P21709 · EPHA1_HUMAN
- ProteinEphrin type-A receptor 1
- GeneEPHA1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids976 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1805636910 | 3 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143408798C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408798C>T Locations: - p.Arg3Gln (Ensembl:ENST00000275815) - c.8G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805637071 | 3 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143408799G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408799G>A Locations: - p.Arg3Trp (Ensembl:ENST00000275815) - c.7C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805636800 | 4 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143408795C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408795C>A Locations: - p.Arg4Leu (Ensembl:ENST00000275815) - c.11G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1409667882 | 5 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143408792C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408792C>T Locations: - p.Trp5Ter (Ensembl:ENST00000275815) - c.14G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1191226865 | 5 | W>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143408793A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408793A>C Locations: - p.Trp5Gly (Ensembl:ENST00000275815) - c.13T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116647507 | 10 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000007.14:g.143408777C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408777C>A Locations: - p.Gly10Val (Ensembl:ENST00000275815) - c.29G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116647488 | 12 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143408772C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408772C>A Locations: - p.Val12Leu (Ensembl:ENST00000275815) - c.34G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805635665 | 14 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143408765A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408765A>G Locations: - p.Leu14Pro (Ensembl:ENST00000275815) - c.41T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805635582 | 15 | L>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143408763G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408763G>C Locations: - p.Leu15Val (Ensembl:ENST00000275815) - c.43C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1343287730 | 17 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000007.14:g.143408757C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408757C>T Locations: - p.Ala17Thr (Ensembl:ENST00000275815) - c.49G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805634837 | 18 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000007.14:g.143408753G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408753G>A Locations: - p.Pro18Leu (Ensembl:ENST00000275815) - c.53C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs896909240 | 18 | P>S | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000007.14:g.143408754G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408754G>A Locations: - p.Pro18Ser (Ensembl:ENST00000275815) - c.52C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1462823087 | 20 | P>H | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000007.14:g.143408747G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408747G>T Locations: - p.Pro20His (Ensembl:ENST00000275815) - c.59C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1462823087 | 20 | P>L | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000007.14:g.143408747G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408747G>A Locations: - p.Pro20Leu (Ensembl:ENST00000275815) - c.59C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805634512 | 20 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000007.14:g.143408748G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408748G>A Locations: - p.Pro20Ser (Ensembl:ENST00000275815) - c.58C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805634253 | 21 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000007.14:g.143408745G>C Codon: CCG/GCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408745G>C Locations: - p.Pro21Ala (Ensembl:ENST00000275815) - c.61C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805634253 | 21 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000007.14:g.143408745G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408745G>A Locations: - p.Pro21Ser (Ensembl:ENST00000275815) - c.61C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1038171832 | 23 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143408739C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408739C>G Locations: - p.Ala23Pro (Ensembl:ENST00000275815) - c.67G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
RCV000950730 rs79587607 | 24 | R>H | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.08606 (ClinVar) - MAF: 0.080259 (1000Genomes) Accession: NC_000007.14:g.143408735C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408735C>T Locations: - p.Arg24His (Ensembl:ENST00000275815) - c.71G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs79587607 | 24 | R>P | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.23) Somatic: No Population frequencies: - MAF: 0.080259 (1000Genomes) Accession: NC_000007.14:g.143408735C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408735C>G Locations: - p.Arg24Pro (Ensembl:ENST00000275815) - c.71G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116647348 | 24 | R>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.143408736G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408736G>T Locations: - p.Arg24Ser (Ensembl:ENST00000275815) - c.70C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1467190935 | 25 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143408733C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408733C>G Locations: - p.Ala25Pro (Ensembl:ENST00000275815) - c.73G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1467190935 | 25 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000007.14:g.143408733C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408733C>A Locations: - p.Ala25Ser (Ensembl:ENST00000275815) - c.73G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1273047972 | 26 | K>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143408730T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408730T>A Locations: - p.Lys26Ter (Ensembl:ENST00000275815) - c.76A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1273047972 | 26 | K>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143408730T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143408730T>G Locations: - p.Lys26Gln (Ensembl:ENST00000275815) - c.76A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 29 | T>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.743) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000007.14:g.143407675G>T Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407675G>T Locations: - c.86C>A (NCI-TCGA:ENST00000275815) - p.T29N (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs889892936 | 30 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143407672A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407672A>G Locations: - p.Leu30Pro (Ensembl:ENST00000275815) - c.89T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51971551 | 31 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.143407668C>T Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407668C>T Locations: - c.93G>A (NCI-TCGA:ENST00000275815) - p.M31I (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1342428064 | 31 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143407669A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407669A>G Locations: - p.Met31Thr (Ensembl:ENST00000275815) - c.92T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1050291925 | 32 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143407666T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407666T>C Locations: - p.Asp32Gly (Ensembl:ENST00000275815) - c.95A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99313562 | 32 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143407667C>T Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407667C>T Locations: - c.94G>A (NCI-TCGA:ENST00000275815) - p.D32N (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs774079359 | 34 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.462) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.143407660C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407660C>T Locations: - p.Ser34Asn (Ensembl:ENST00000275815) - c.101G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1000636068 | 35 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143407656C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407656C>G Locations: - p.Lys35Asn (Ensembl:ENST00000275815) - c.105G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314304 | 36 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.397) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000007.14:g.143407655C>T Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407655C>T Locations: - c.106G>A (NCI-TCGA:ENST00000275815) - p.A36T (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs768501447 | 38 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.555) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143407649C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407649C>T Locations: - p.Gly38Arg (Ensembl:ENST00000275815) - c.112G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs779885990 | 39 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.143407644C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407644C>G Locations: - p.Glu39Asp (Ensembl:ENST00000275815) - c.117G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs934062647 | 40 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143407642A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407642A>G Locations: - p.Leu40Pro (Ensembl:ENST00000275815) - c.119T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805591242 | 41 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143407639C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407639C>G Locations: - p.Gly41Ala (Ensembl:ENST00000275815) - c.122G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1389840241 | 41 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000003991 (gnomAD) Accession: NC_000007.14:g.143407640C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407640C>T Locations: - p.G41S (NCI-TCGA:ENST00000275815) - p.Gly41Ser (Ensembl:ENST00000275815) - c.121G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs755797395 | 45 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000007.14:g.143407628C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407628C>G Locations: - p.Asp45His (Ensembl:ENST00000275815) - c.133G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51974380 COSV51977249 rs571770871 | 46 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.06) - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000007.14:g.143407625G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407625G>A Locations: - p.P46S (NCI-TCGA:ENST00000275815) - p.Pro46Ser (Ensembl:ENST00000275815) - c.136C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805590949 | 47 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000007.14:g.143407621G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407621G>C Locations: - p.Pro47Arg (Ensembl:ENST00000275815) - c.140C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1188031745 | 48 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143407617T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407617T>A Locations: - p.Lys48Asn (Ensembl:ENST00000275815) - c.144A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1037157442 | 49 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000007.14:g.143407615T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407615T>C Locations: - p.Asp49Gly (Ensembl:ENST00000275815) - c.146A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314700 | 49 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000007.14:g.143407615T>A Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407615T>A Locations: - c.146A>T (NCI-TCGA:ENST00000275815) - p.D49V (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs780744262 | 50 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143407612C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143407612C>G Locations: - p.Gly50Ala (Ensembl:ENST00000275815) - c.149G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs2116632000 | 53 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.695) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000007.14:g.143401599C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401599C>G Locations: - p.Glu53Gln (Ensembl:ENST00000275815) - c.157G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805423738 | 55 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143401593G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401593G>T Locations: - p.Gln55Lys (Ensembl:ENST00000275815) - c.163C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1470179846 | 56 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.562) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000007.14:g.143401590G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401590G>T Locations: - p.Gln56Lys (Ensembl:ENST00000275815) - c.166C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51975758 rs2116631952 | 57 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.72) - PolyPhen: benign (0.056) - SIFT: tolerated (0.61) Somatic: Yes Accession: NC_000007.14:g.143401585T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401585T>C Locations: - p.I57M (NCI-TCGA:ENST00000275815) - p.Ile57Met (Ensembl:ENST00000275815) - c.171A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs769627585 | 57 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.746) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000007.14:g.143401586A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401586A>G Locations: - p.Ile57Thr (Ensembl:ENST00000275815) - c.170T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1224513857 | 60 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143401578C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401578C>T Locations: - p.Gly60Arg (Ensembl:ENST00000275815) - c.178G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116631911 | 61 | T>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401574G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401574G>C Locations: - p.Thr61Arg (Ensembl:ENST00000275815) - c.182C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805422631 | 61 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.498) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143401575T>A Codon: ACA/TCA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401575T>A Locations: - p.Thr61Ser (Ensembl:ENST00000275815) - c.181A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs139238731 | 62 | P>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000007.14:g.143401572G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401572G>A Locations: - p.Pro62Ser (Ensembl:ENST00000275815) - c.184C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs139238731 | 62 | P>T | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143401572G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401572G>T Locations: - p.Pro62Thr (Ensembl:ENST00000275815) - c.184C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs778371838 | 63 | L>M | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143401569G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401569G>T Locations: - p.Leu63Met (Ensembl:ENST00000275815) - c.187C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1414693803 | 64 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401565T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401565T>C Locations: - p.Tyr64Cys (Ensembl:ENST00000275815) - c.191A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1319809963 | 65 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000007.14:g.143401561C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401561C>T Locations: - p.Met65Ile (Ensembl:ENST00000275815) - c.195G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805421696 | 65 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143401562A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401562A>G Locations: - p.Met65Thr (Ensembl:ENST00000275815) - c.194T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs376995026 | 65 | M>V | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143401563T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401563T>C Locations: - p.Met65Val (Ensembl:ENST00000275815) - c.193A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs758867460 | 67 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143401557G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401557G>A Locations: - p.Gln67Ter (Ensembl:ENST00000275815) - c.199C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51970609 | 67 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143401555C>A Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401555C>A Locations: - c.201G>T (NCI-TCGA:ENST00000275815) - p.Q67H (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1346434969 | 68 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143401554C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401554C>T Locations: - p.Asp68Asn (Ensembl:ENST00000275815) - c.202G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116631813 | 68 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143401553T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401553T>A Locations: - p.Asp68Val (Ensembl:ENST00000275815) - c.203A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1346434969 | 68 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143401554C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401554C>A Locations: - p.Asp68Tyr (Ensembl:ENST00000275815) - c.202G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 70 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143401548G>A Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401548G>A Locations: - c.208C>T (NCI-TCGA:ENST00000275815) - p.P70S (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs118129834 | 71 | M>I | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143401543C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401543C>A Locations: - p.Met71Ile (Ensembl:ENST00000275815) - c.213G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805421137 | 71 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401544A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401544A>G Locations: - p.Met71Thr (Ensembl:ENST00000275815) - c.212T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116631774 | 72 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143401542G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401542G>A Locations: - p.Gln72Ter (Ensembl:ENST00000275815) - c.214C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805420933 | 72 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.143401540T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401540T>G Locations: - p.Gln72His (Ensembl:ENST00000275815) - c.216A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116631764 | 72 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000007.14:g.143401541T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401541T>A Locations: - p.Gln72Leu (Ensembl:ENST00000275815) - c.215A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116631764 | 72 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000007.14:g.143401541T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401541T>C Locations: - p.Gln72Arg (Ensembl:ENST00000275815) - c.215A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs373319975 | 73 | G>R | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143401539C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401539C>T Locations: - p.Gly73Arg (Ensembl:ENST00000275815) - c.217G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51974471 COSV51977919 rs755258725 | 74 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.376) - SIFT: deleterious (0.01) - PolyPhen: benign (0.371) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00003198 (gnomAD) Accession: NC_000007.14:g.143401536G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401536G>A Locations: - p.R74C (NCI-TCGA:ENST00000275815) - p.Arg74Cys (Ensembl:ENST00000275815) - c.220C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs755258725 | 74 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000007.14:g.143401536G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401536G>C Locations: - p.Arg74Gly (Ensembl:ENST00000275815) - c.220C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs535622332 | 74 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143401535C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401535C>T Locations: - p.Arg74His (Ensembl:ENST00000275815) - c.221G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs535622332 | 74 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143401535C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401535C>A Locations: - p.Arg74Leu (Ensembl:ENST00000275815) - c.221G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1254092990 | 75 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000007.14:g.143401532C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401532C>T Locations: - p.Arg75Lys (Ensembl:ENST00000275815) - c.224G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs766451992 | 75 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000007.14:g.143401531T>G Codon: AGA/AGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401531T>G Locations: - p.Arg75Ser (Ensembl:ENST00000275815) - c.225A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1563119657 | 77 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.394) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143401527T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401527T>C Locations: - p.Thr77Ala (Ensembl:ENST00000275815) - c.229A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs760843035 | 77 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143401526G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401526G>A Locations: - p.Thr77Ile (Ensembl:ENST00000275815) - c.230C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs760843035 | 77 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.9) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143401526G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401526G>T Locations: - p.Thr77Asn (Ensembl:ENST00000275815) - c.230C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs2116631691 | 80 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143401516C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401516C>T Locations: - p.Trp80Ter (Ensembl:ENST00000275815) - c.240G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs773136368 | 80 | W>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143401517C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401517C>T Locations: - p.Trp80Ter (Ensembl:ENST00000275815) - c.239G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51971522 rs74721927 | 82 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000007.14:g.143401512G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401512G>A Locations: - p.R82C (NCI-TCGA:ENST00000275815) - p.Arg82Cys (Ensembl:ENST00000275815) - c.244C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51970732 rs1029805928 | 82 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143401511C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401511C>T Locations: - p.R82H (NCI-TCGA:ENST00000275815) - p.Arg82His (Ensembl:ENST00000275815) - c.245G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1029805928 | 82 | R>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143401511C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401511C>A Locations: - p.Arg82Leu (Ensembl:ENST00000275815) - c.245G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1372113896 | 83 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143401509A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401509A>T Locations: - p.Ser83Thr (Ensembl:ENST00000275815) - c.247T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1296665931 | 84 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143401506T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401506T>C Locations: - p.Asn84Asp (Ensembl:ENST00000275815) - c.250A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs142191815 | 84 | N>I | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000007.14:g.143401505T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401505T>A Locations: - p.Asn84Ile (Ensembl:ENST00000275815) - c.251A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs961514735 | 84 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401504A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401504A>C Locations: - p.Asn84Lys (Ensembl:ENST00000275815) - c.252T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs142191815 | 84 | N>S | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.1) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000007.14:g.143401505T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401505T>C Locations: - p.Asn84Ser (Ensembl:ENST00000275815) - c.251A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1364023704 | 85 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401503A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401503A>G Locations: - p.Trp85Arg (Ensembl:ENST00000275815) - c.253T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs769720234 | 85 | W>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401502C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401502C>G Locations: - p.Trp85Ser (Ensembl:ENST00000275815) - c.254G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805418104 | 86 | I>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401500T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401500T>G Locations: - p.Ile86Leu (Ensembl:ENST00000275815) - c.256A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1478817861 | 86 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401498G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401498G>C Locations: - p.Ile86Met (Ensembl:ENST00000275815) - c.258C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805418032 | 86 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401499A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401499A>G Locations: - p.Ile86Thr (Ensembl:ENST00000275815) - c.257T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1194676814 | 87 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143401495G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401495G>T Locations: - p.Tyr87Ter (Ensembl:ENST00000275815) - c.261C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116631573 | 87 | Y>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.819) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.143401496T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401496T>A Locations: - p.Tyr87Phe (Ensembl:ENST00000275815) - c.260A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs759350123 | 88 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401494G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401494G>A Locations: - p.Arg88Cys (Ensembl:ENST00000275815) - c.262C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs148653512 | 88 | R>H | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401493C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401493C>T Locations: - p.Arg88His (Ensembl:ENST00000275815) - c.263G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs148653512 | 88 | R>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401493C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401493C>A Locations: - p.Arg88Leu (Ensembl:ENST00000275815) - c.263G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
TCGA novel | 88 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143401494G>T Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401494G>T Locations: - c.262C>A (NCI-TCGA:ENST00000275815) - p.R88S (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs772621246 | 89 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143401490C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401490C>T Locations: - p.Gly89Glu (Ensembl:ENST00000275815) - c.266G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs144146635 | 89 | G>R | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000007.14:g.143401491C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401491C>T Locations: - p.Gly89Arg (Ensembl:ENST00000275815) - c.265G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs144146635 | 89 | G>W | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401491C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401491C>A Locations: - p.Gly89Trp (Ensembl:ENST00000275815) - c.265G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805416951 | 90 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.804) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.143401488C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401488C>T Locations: - p.Glu90Lys (Ensembl:ENST00000275815) - c.268G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1486155232 | 91 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.31) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000007.14:g.143401483C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401483C>G Locations: - p.Glu91Asp (Ensembl:ENST00000275815) - c.273G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs748648935 | 91 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000007.14:g.143401485C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401485C>T Locations: - p.Glu91Lys (Ensembl:ENST00000275815) - c.271G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805416620 | 92 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143401482C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401482C>T Locations: - p.Ala92Thr (Ensembl:ENST00000275815) - c.274G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116631473 | 92 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143401481G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401481G>A Locations: - p.Ala92Val (Ensembl:ENST00000275815) - c.275C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51977051 | 93 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000007.14:g.143401478G>A Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401478G>A Locations: - c.278C>T (NCI-TCGA:ENST00000275815) - p.S93F (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116631453 | 93 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.635) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143401479A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401479A>G Locations: - p.Ser93Pro (Ensembl:ENST00000275815) - c.277T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51969737 rs755348512 | 94 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002392 (gnomAD) Accession: NC_000007.14:g.143401476G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401476G>A Locations: - p.R94C (NCI-TCGA:ENST00000275815) - p.Arg94Cys (Ensembl:ENST00000275815) - c.280C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs755348512 | 94 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401476G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401476G>C Locations: - p.Arg94Gly (Ensembl:ENST00000275815) - c.280C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51977736 rs45447297 | 94 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000007.14:g.143401475C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401475C>T Locations: - p.R94H (NCI-TCGA:ENST00000275815) - p.Arg94His (Ensembl:ENST00000275815) - c.281G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs45447297 | 94 | R>L | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143401475C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401475C>A Locations: - p.Arg94Leu (Ensembl:ENST00000275815) - c.281G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs201228574 | 95 | V>I | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000007.14:g.143401473C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401473C>T Locations: - p.Val95Ile (Ensembl:ENST00000275815) - c.283G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs201228574 | 95 | V>L | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143401473C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401473C>G Locations: - p.Val95Leu (Ensembl:ENST00000275815) - c.283G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs752699309 | 97 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.287) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143401466A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401466A>G Locations: - p.Val97Ala (Ensembl:ENST00000275815) - c.290T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs761922296 | 97 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143401467C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401467C>A Locations: - p.Val97Leu (Ensembl:ENST00000275815) - c.289G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs761922296 | 97 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.68) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401467C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401467C>T Locations: - p.Val97Met (Ensembl:ENST00000275815) - c.289G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs147254019 | 99 | L>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143401461G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401461G>T Locations: - p.Leu99Met (Ensembl:ENST00000275815) - c.295C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs143810053 | 100 | Q>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143401456C>A, NC_000007.14:g.143401456C>G Codon: CAG/CAT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401456C>A, NC_000007.14:g.143401456C>G Locations: - p.Gln100His (Ensembl:ENST00000275815) - c.300G>T (Ensembl:ENST00000275815) - c.300G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs924106822 | 100 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.79) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401457T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401457T>G Locations: - p.Gln100Pro (Ensembl:ENST00000275815) - c.299A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805414436 | 102 | T>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401451G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401451G>T Locations: - p.Thr102Asn (Ensembl:ENST00000275815) - c.305C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs760227816 | 103 | V>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.143401449C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401449C>G Locations: - p.Val103Leu (Ensembl:ENST00000275815) - c.307G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs760227816 | 103 | V>M | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143401449C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401449C>T Locations: - p.Val103Met (Ensembl:ENST00000275815) - c.307G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs369887921 | 104 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401445C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401445C>A Locations: - p.Arg104Leu (Ensembl:ENST00000275815) - c.311G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs369887921 | 104 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401445C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401445C>T Locations: - p.Arg104Gln (Ensembl:ENST00000275815) - c.311G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs201546539 | 104 | R>W | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401446G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401446G>A Locations: - p.Arg104Trp (Ensembl:ENST00000275815) - c.310C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805413410 | 105 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401441G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401441G>C Locations: - p.Asp105Glu (Ensembl:ENST00000275815) - c.315C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1460792502 | 105 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401442T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401442T>C Locations: - p.Asp105Gly (Ensembl:ENST00000275815) - c.314A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116631238 | 106 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401439C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401439C>T Locations: - p.Cys106Tyr (Ensembl:ENST00000275815) - c.317G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs749711811 | 107 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401437T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401437T>C Locations: - p.Lys107Glu (Ensembl:ENST00000275815) - c.319A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs780269428 | 107 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143401435C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401435C>G Locations: - p.Lys107Asn (Ensembl:ENST00000275815) - c.321G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1053367957 | 109 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401430A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401430A>G Locations: - p.Phe109Ser (Ensembl:ENST00000275815) - c.326T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51970681 | 110 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.143401428G>A Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401428G>A Locations: - c.328C>T (NCI-TCGA:ENST00000275815) - p.P110S (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs756424890 | 111 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401424C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401424C>T Locations: - p.Gly111Glu (Ensembl:ENST00000275815) - c.332G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805412828 | 111 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143401425C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401425C>T Locations: - p.Gly111Arg (Ensembl:ENST00000275815) - c.331G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs756424890 | 111 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401424C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401424C>A Locations: - p.Gly111Val (Ensembl:ENST00000275815) - c.332G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51970381 COSV51976424 rs781509885 | 112 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (1) - PolyPhen: benign (0.01) - SIFT: tolerated (0.39) Somatic: No Population frequencies: - MAF: 0.000007975 (gnomAD) Accession: NC_000007.14:g.143401421C>T, NC_000007.14:g.143401421del Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401421C>T, NC_000007.14:g.143401421del Locations: - p.G112E (NCI-TCGA:ENST00000275815) - p.Gly112Glu (Ensembl:ENST00000275815) - c.335G>A (Ensembl:ENST00000275815) - c.335del (NCI-TCGA:ENST00000275815) - p.G112Efs*34 (NCI-TCGA:ENST00000275815) Source type: large scale study | |||||||
rs1475628798 | 113 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000007.14:g.143401419C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401419C>A Locations: - p.Ala113Ser (Ensembl:ENST00000275815) - c.337G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1475628798 | 113 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143401419C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401419C>T Locations: - p.Ala113Thr (Ensembl:ENST00000275815) - c.337G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116631153 | 113 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000007.14:g.143401418G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401418G>A Locations: - p.Ala113Val (Ensembl:ENST00000275815) - c.338C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs530283884 | 114 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143401416C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401416C>T Locations: - p.Gly114Arg (Ensembl:ENST00000275815) - c.340G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs759367292 | 115 | P>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.143401413G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401413G>A Locations: - p.Pro115Ser (Ensembl:ENST00000275815) - c.343C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1563119463 | 116 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143401409A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401409A>G Locations: - p.Leu116Pro (Ensembl:ENST00000275815) - c.347T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs972897874 | 117 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143401407C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401407C>G Locations: - p.Gly117Arg (Ensembl:ENST00000275815) - c.349G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs972897874 | 117 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.294) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143401407C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401407C>T Locations: - p.Gly117Ser (Ensembl:ENST00000275815) - c.349G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1233382933 | 118 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401403C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401403C>T Locations: - p.Cys118Tyr (Ensembl:ENST00000275815) - c.353G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs961153147 | 119 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143401400T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401400T>C Locations: - p.Lys119Arg (Ensembl:ENST00000275815) - c.356A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1349425480 | 120 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401398C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401398C>T Locations: - p.Glu120Lys (Ensembl:ENST00000275815) - c.358G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs760451814 | 121 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401394G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401394G>T Locations: - p.Thr121Asn (Ensembl:ENST00000275815) - c.362C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs772864439 | 122 | F>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401392A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401392A>T Locations: - p.Phe122Ile (Ensembl:ENST00000275815) - c.364T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs764543064 | 123 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401388T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401388T>G Locations: - p.Asn123Thr (Ensembl:ENST00000275815) - c.368A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1375957847 | 124 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401386G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401386G>A Locations: - p.Leu124Phe (Ensembl:ENST00000275815) - c.370C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1299141462 | 125 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401382A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401382A>G Locations: - p.Leu125Pro (Ensembl:ENST00000275815) - c.374T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1299141462 | 125 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401382A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401382A>T Locations: - p.Leu125Gln (Ensembl:ENST00000275815) - c.374T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1392943742 | 126 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401379T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401379T>C Locations: - p.Tyr126Cys (Ensembl:ENST00000275815) - c.377A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1392943742 | 126 | Y>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.143401379T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401379T>A Locations: - p.Tyr126Phe (Ensembl:ENST00000275815) - c.377A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51970291 rs111858878 | 127 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: tolerated (0.29) - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000007.14:g.143401375C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401375C>T Locations: - p.M127I (NCI-TCGA:ENST00000275815) - p.Met127Ile (Ensembl:ENST00000275815) - c.381G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs767106252 | 127 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000007.14:g.143401377T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401377T>G Locations: - p.Met127Leu (Ensembl:ENST00000275815) - c.379A>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs767106252 | 127 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000007.14:g.143401377T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401377T>C Locations: - p.Met127Val (Ensembl:ENST00000275815) - c.379A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs761342435 | 128 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401373T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401373T>G Locations: - p.Glu128Ala (Ensembl:ENST00000275815) - c.383A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1586585702 | 130 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.745) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143401368C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401368C>T Locations: - p.Asp130Asn (Ensembl:ENST00000275815) - c.388G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314655 | 132 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000007.14:g.143401360A>C Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401360A>C Locations: - c.396T>G (NCI-TCGA:ENST00000275815) - p.D132E (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1287337651 | 133 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143401358A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401358A>C Locations: - p.Val133Gly (Ensembl:ENST00000275815) - c.398T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51970621 | 133 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.7) Somatic: Yes Accession: NC_000007.14:g.143401359C>A Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401359C>A Locations: - c.397G>T (NCI-TCGA:ENST00000275815) - p.V133L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs773830927 | 133 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143401359C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401359C>T Locations: - p.Val133Met (Ensembl:ENST00000275815) - c.397G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1158975064 | 135 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.143401353T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401353T>G Locations: - p.Ile135Leu (Ensembl:ENST00000275815) - c.403A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805408917 | 137 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143401347G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401347G>A Locations: - p.Leu137Phe (Ensembl:ENST00000275815) - c.409C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51971793 rs1421157458 | 138 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000008034 (gnomAD) Accession: NC_000007.14:g.143401344G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401344G>A Locations: - p.R138* (NCI-TCGA:ENST00000275815) - p.Arg138Ter (Ensembl:ENST00000275815) - c.412C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs190437539 | 138 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.143401343C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401343C>T Locations: - p.Arg138Gln (Ensembl:ENST00000275815) - c.413G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51970809 COSV51975526 | 139 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143401340C>A Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401340C>A Locations: - c.416G>T (NCI-TCGA:ENST00000275815) - p.R139L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs770072024 | 139 | R>P | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143401340C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401340C>G Locations: - p.Arg139Pro (Ensembl:ENST00000275815) - c.416G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51970809 COSV51975526 rs770072024 | 139 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.05) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001608 (gnomAD) Accession: NC_000007.14:g.143401340C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401340C>T Locations: - p.R139Q (NCI-TCGA:ENST00000275815) - p.Arg139Gln (Ensembl:ENST00000275815) - c.416G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs551009816 | 139 | R>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143401341G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401341G>A Locations: - p.Arg139Trp (Ensembl:ENST00000275815) - c.415C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 140 | P>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000007.14:g.143401337G>C Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401337G>C Locations: - c.419C>G (NCI-TCGA:ENST00000275815) - p.P140R (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 142 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143401332A>G Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143401332A>G Locations: - c.424T>C (NCI-TCGA:ENST00000275815) - p.F142L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs746261846 | 145 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.639) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143400052A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400052A>G Locations: - p.Val145Ala (Ensembl:ENST00000275815) - c.434T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs770297450 | 145 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (1) - PolyPhen: benign (0.067) - SIFT: tolerated (0.84) Somatic: No Population frequencies: - MAF: 0.00001252 (gnomAD) Accession: NC_000007.14:g.143400053C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400053C>T Locations: - p.V145I (NCI-TCGA:ENST00000275815) - p.Val145Ile (Ensembl:ENST00000275815) - c.433G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314785 | 146 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143400049G>A Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400049G>A Locations: - c.437C>T (NCI-TCGA:ENST00000275815) - p.T146I (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs776751373 | 146 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000007.14:g.143400049G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400049G>T Locations: - p.Thr146Asn (Ensembl:ENST00000275815) - c.437C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs542068127 | 147 | T>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143400046G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400046G>A Locations: - p.Thr147Met (Ensembl:ENST00000275815) - c.440C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs542068127 | 147 | T>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143400046G>C Codon: ACG/AGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400046G>C Locations: - p.Thr147Arg (Ensembl:ENST00000275815) - c.440C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 148 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143400043A>G Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400043A>G Locations: - c.443T>C (NCI-TCGA:ENST00000275815) - p.V148A (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1805377471 | 148 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143400043A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400043A>C Locations: - p.Val148Gly (Ensembl:ENST00000275815) - c.443T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1181973754 | 148 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143400044C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400044C>T Locations: - p.Val148Met (Ensembl:ENST00000275815) - c.442G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 149 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143400040G>T Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400040G>T Locations: - c.446C>A (NCI-TCGA:ENST00000275815) - p.A149D (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1365141935 | 149 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143400041C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400041C>T Locations: - p.Ala149Thr (Ensembl:ENST00000275815) - c.445G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1316251675 | 152 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143400032G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400032G>A Locations: - p.Gln152Ter (Ensembl:ENST00000275815) - c.454C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1362684299 | 152 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143400030C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400030C>G Locations: - p.Gln152His (Ensembl:ENST00000275815) - c.456G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1384001533 | 153 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143400028C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400028C>T Locations: - p.Ser153Asn (Ensembl:ENST00000275815) - c.458G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs372053514 | 154 | F>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000007.14:g.143400025A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400025A>G Locations: - p.Phe154Ser (Ensembl:ENST00000275815) - c.461T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs150426007 | 155 | T>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143400023T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400023T>C Locations: - p.Thr155Ala (Ensembl:ENST00000275815) - c.463A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805376601 | 156 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000007.14:g.143400020T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400020T>C Locations: - p.Ile156Val (Ensembl:ENST00000275815) - c.466A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs141528182 | 157 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001205 (gnomAD) Accession: NC_000007.14:g.143400017G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400017G>A Locations: - p.R157* (NCI-TCGA:ENST00000275815) - p.Arg157Ter (Ensembl:ENST00000275815) - c.469C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs779885233 | 157 | R>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143400016C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400016C>G Locations: - p.Arg157Pro (Ensembl:ENST00000275815) - c.470G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs779885233 | 157 | R>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143400016C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400016C>T Locations: - p.Arg157Gln (Ensembl:ENST00000275815) - c.470G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805376267 | 158 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143400012G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400012G>T Locations: - p.Asp158Glu (Ensembl:ENST00000275815) - c.474C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1174065751 | 158 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143400014C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400014C>A Locations: - p.Asp158Tyr (Ensembl:ENST00000275815) - c.472G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs966013135 | 159 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.706) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.143400011G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400011G>A Locations: - p.Leu159Phe (Ensembl:ENST00000275815) - c.475C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
VAR_028265 rs4725617 | 160 | V>A | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000007.14:g.143400007A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400007A>G Locations: - p.Val160Ala (UniProt:P21709) Source type: mixed Cross-references: | |||||||
rs4725617 | 160 | V>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000007.14:g.143400007A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400007A>T Locations: - p.Val160Glu (Ensembl:ENST00000275815) - c.479T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs4725617 | 160 | V>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000007.14:g.143400007A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400007A>C Locations: - p.Val160Gly (Ensembl:ENST00000275815) - c.479T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1008484548 | 161 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143400004G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400004G>C Locations: - p.Ser161Cys (Ensembl:ENST00000275815) - c.482C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805375532 | 162 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000007.14:g.143400002C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400002C>T Locations: - p.Gly162Ser (Ensembl:ENST00000275815) - c.484G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1194610095 | 162 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.143400001C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 7q35 Genomic location: NC_000007.14:g.143400001C>A Locations: - p.Gly162Val (Ensembl:ENST00000275815) - c.485G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 163 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.143399998G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399998G>A Locations: - c.488C>T (NCI-TCGA:ENST00000275815) - p.S163F (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs751226403 | 164 | V>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143399995A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399995A>G Locations: - p.Val164Ala (Ensembl:ENST00000275815) - c.491T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs143405612 | 164 | V>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.36) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399996C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399996C>A Locations: - p.Val164Leu (Ensembl:ENST00000275815) - c.490G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs143405612 | 164 | V>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.81) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399996C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399996C>T Locations: - p.Val164Met (Ensembl:ENST00000275815) - c.490G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs982934449 | 166 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399989A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399989A>G Locations: - p.Leu166Pro (Ensembl:ENST00000275815) - c.497T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs763757809 | 167 | N>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399987T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399987T>G Locations: - p.Asn167His (Ensembl:ENST00000275815) - c.499A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs762406186 | 167 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399985A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399985A>C Locations: - p.Asn167Lys (Ensembl:ENST00000275815) - c.501T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805374686 | 169 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399979C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399979C>A Locations: - p.Glu169Asp (Ensembl:ENST00000275815) - c.507G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs373364271 | 169 | E>K | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399981C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399981C>T Locations: - p.Glu169Lys (Ensembl:ENST00000275815) - c.505G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51969266 rs199931138 | 170 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.745) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.741) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00006401 (gnomAD) Accession: NC_000007.14:g.143399978G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399978G>A Locations: - p.R170C (NCI-TCGA:ENST00000275815) - p.Arg170Cys (Ensembl:ENST00000275815) - c.508C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs199931138 | 170 | R>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143399978G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399978G>C Locations: - p.Arg170Gly (Ensembl:ENST00000275815) - c.508C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs777199962 | 170 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.07) - PolyPhen: benign (0.007) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.00004403 (gnomAD) Accession: NC_000007.14:g.143399977C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399977C>T Locations: - p.R170H (NCI-TCGA:ENST00000275815) - p.Arg170His (Ensembl:ENST00000275815) - c.509G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs199931138 | 170 | R>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143399978G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399978G>T Locations: - p.Arg170Ser (Ensembl:ENST00000275815) - c.508C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs141275729 | 171 | C>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.143399973G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399973G>C Locations: - p.Cys171Trp (Ensembl:ENST00000275815) - c.513C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116628550 | 172 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399971G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399971G>C Locations: - p.Ser172Cys (Ensembl:ENST00000275815) - c.515C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1586584699 | 173 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399968A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399968A>C Locations: - p.Leu173Arg (Ensembl:ENST00000275815) - c.518T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1377529661 | 175 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.655) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399963G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399963G>A Locations: - p.Arg175Cys (Ensembl:ENST00000275815) - c.523C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs760180128 | 175 | R>H | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143399962C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399962C>T Locations: - p.Arg175His (Ensembl:ENST00000275815) - c.524G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs760180128 | 175 | R>P | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.278) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143399962C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399962C>G Locations: - p.Arg175Pro (Ensembl:ENST00000275815) - c.524G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs779038165 | 176 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399960G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399960G>C Locations: - p.Leu176Val (Ensembl:ENST00000275815) - c.526C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs769688423 | 177 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399957T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399957T>G Locations: - p.Thr177Pro (Ensembl:ENST00000275815) - c.529A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51971697 rs745810214 | 178 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.813) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00005625 (gnomAD) Accession: NC_000007.14:g.143399954G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399954G>A Locations: - p.R178C (NCI-TCGA:ENST00000275815) - p.Arg178Cys (Ensembl:ENST00000275815) - c.532C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs141392438 | 178 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399953C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399953C>T Locations: - p.Arg178His (Ensembl:ENST00000275815) - c.533G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs141392438 | 178 | R>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399953C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399953C>G Locations: - p.Arg178Pro (Ensembl:ENST00000275815) - c.533G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs540355150 | 179 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399951G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399951G>A Locations: - p.Arg179Cys (Ensembl:ENST00000275815) - c.535C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs572755645 | 179 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399950C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399950C>T Locations: - p.Arg179His (Ensembl:ENST00000275815) - c.536G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 179 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399950C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399950C>A Locations: - c.536G>T (NCI-TCGA:ENST00000275815) - p.R179L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs540355150 | 179 | R>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399951G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399951G>T Locations: - p.Arg179Ser (Ensembl:ENST00000275815) - c.535C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1475956163 | 181 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143399945G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399945G>A Locations: - p.Leu181Phe (Ensembl:ENST00000275815) - c.541C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs752203488 | 182 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399941T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399941T>C Locations: - p.Tyr182Cys (Ensembl:ENST00000275815) - c.545A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1437597746 | 183 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399938A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399938A>G Locations: - p.Leu183Pro (Ensembl:ENST00000275815) - c.548T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51968479 rs1805372916 | 184 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143399936C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399936C>T Locations: - p.A184T (NCI-TCGA:ENST00000275815) - p.Ala184Thr (Ensembl:ENST00000275815) - c.550G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805372845 | 184 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399935G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399935G>A Locations: - p.Ala184Val (Ensembl:ENST00000275815) - c.551C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805372781 | 185 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399931G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399931G>T Locations: - p.Phe185Leu (Ensembl:ENST00000275815) - c.555C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1198043030 | 187 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399926T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399926T>C Locations: - p.Asn187Ser (Ensembl:ENST00000275815) - c.560A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs766943140 | 188 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000007.14:g.143399923G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399923G>A Locations: - p.Pro188Leu (Ensembl:ENST00000275815) - c.563C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs766943140 | 188 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399923G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399923G>T Locations: - p.Pro188Gln (Ensembl:ENST00000275815) - c.563C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs375516618 | 189 | G>A | 1000Genomes ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399920C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399920C>G Locations: - p.Gly189Ala (Ensembl:ENST00000275815) - c.566G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs375516618 | 189 | G>D | 1000Genomes ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399920C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399920C>T Locations: - p.Gly189Asp (Ensembl:ENST00000275815) - c.566G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1294128583 | 190 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.748) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399917G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399917G>T Locations: - p.Ala190Asp (Ensembl:ENST00000275815) - c.569C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1423610614 | 191 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399914C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399914C>T Locations: - p.Cys191Tyr (Ensembl:ENST00000275815) - c.572G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1441823997 | 192 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399911A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399911A>G Locations: - p.Val192Ala (Ensembl:ENST00000275815) - c.575T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1441823997 | 192 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399911A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399911A>C Locations: - p.Val192Gly (Ensembl:ENST00000275815) - c.575T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51974539 | 193 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.143399909C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399909C>T Locations: - c.577G>A (NCI-TCGA:ENST00000275815) - p.A193T (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805371888 | 194 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399905A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399905A>G Locations: - p.Leu194Pro (Ensembl:ENST00000275815) - c.581T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs774371662 | 195 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399902A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399902A>G Locations: - p.Val195Ala (Ensembl:ENST00000275815) - c.584T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV99314154 rs1162100202 | 197 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399897C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399897C>T Locations: - p.V197I (NCI-TCGA:ENST00000275815) - p.Val197Ile (Ensembl:ENST00000275815) - c.589G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs781143121 | 198 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399893C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399893C>T Locations: - p.Arg198Gln (Ensembl:ENST00000275815) - c.593G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs749318217 | 198 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399894G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399894G>A Locations: - p.Arg198Trp (Ensembl:ENST00000275815) - c.592C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs2116628305 | 199 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399890A>C Codon: GTC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399890A>C Locations: - p.Val199Gly (Ensembl:ENST00000275815) - c.596T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805371266 | 199 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143399891C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399891C>T Locations: - p.Val199Ile (Ensembl:ENST00000275815) - c.595G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805371207 | 200 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399887A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399887A>G Locations: - p.Phe200Ser (Ensembl:ENST00000275815) - c.599T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1231495693 | 201 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143399883G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399883G>T Locations: - p.Tyr201Ter (Ensembl:ENST00000275815) - c.603C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs557273137 | 201 | Y>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399884T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399884T>C Locations: - p.Tyr201Cys (Ensembl:ENST00000275815) - c.602A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs557273137 | 201 | Y>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399884T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399884T>G Locations: - p.Tyr201Ser (Ensembl:ENST00000275815) - c.602A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1212476853 | 202 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143399881T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399881T>A Locations: - p.Gln202Leu (Ensembl:ENST00000275815) - c.605A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs746832004 | 203 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143399879G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399879G>A Locations: - p.Arg203Cys (Ensembl:ENST00000275815) - c.607C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs373761584 | 203 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143399878C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399878C>T Locations: - p.Arg203His (Ensembl:ENST00000275815) - c.608G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs746832004 | 203 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.144) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000007.14:g.143399879G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399879G>T Locations: - p.Arg203Ser (Ensembl:ENST00000275815) - c.607C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805370683 | 206 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143399870C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399870C>A Locations: - p.Glu206Ter (Ensembl:ENST00000275815) - c.616G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805370683 | 206 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.143399870C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399870C>T Locations: - p.Glu206Lys (Ensembl:ENST00000275815) - c.616G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1337019566 | 209 | N>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143399861T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399861T>A Locations: - p.Asn209Tyr (Ensembl:ENST00000275815) - c.625A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805370142 | 210 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399857C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399857C>G Locations: - p.Gly210Ala (Ensembl:ENST00000275815) - c.629G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs201944315 | 210 | G>S | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.75) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399858C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399858C>T Locations: - p.Gly210Ser (Ensembl:ENST00000275815) - c.628G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs778367248 | 212 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399852C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399852C>A Locations: - p.Ala212Ser (Ensembl:ENST00000275815) - c.634G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1281021546 | 212 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399851G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399851G>A Locations: - p.Ala212Val (Ensembl:ENST00000275815) - c.635C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs931862837 | 213 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000007.14:g.143399848T>G Codon: CAA/CCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399848T>G Locations: - p.Gln213Pro (Ensembl:ENST00000275815) - c.638A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs754557302 | 216 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399840C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399840C>G Locations: - p.Asp216His (Ensembl:ENST00000275815) - c.646G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs754557302 | 216 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143399840C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399840C>T Locations: - p.Asp216Asn (Ensembl:ENST00000275815) - c.646G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1421420411 | 218 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399833A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399833A>G Locations: - p.Leu218Pro (Ensembl:ENST00000275815) - c.653T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1323793671 | 219 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143399831G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399831G>A Locations: - p.Pro219Ser (Ensembl:ENST00000275815) - c.655C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 221 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143399824G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399824G>A Locations: - c.662C>T (NCI-TCGA:ENST00000275815) - p.P221L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs753358941 | 221 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) - PolyPhen: benign (0) - SIFT: tolerated (0.89) Somatic: No Population frequencies: - MAF: 0.00000419 (gnomAD) Accession: NC_000007.14:g.143399825G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399825G>A Locations: - p.P221S (NCI-TCGA:ENST00000275815) - p.Pro221Ser (Ensembl:ENST00000275815) - c.661C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs756665403 | 222 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.85) Somatic: No Accession: NC_000007.14:g.143399822C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399822C>A Locations: - p.Ala222Ser (Ensembl:ENST00000275815) - c.664G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51971665 rs756665403 | 222 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Population frequencies: - MAF: 0.00001255 (gnomAD) Accession: NC_000007.14:g.143399822C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399822C>T Locations: - p.A222T (NCI-TCGA:ENST00000275815) - p.Ala222Thr (Ensembl:ENST00000275815) - c.664G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805369232 | 223 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.487) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143399818C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399818C>T Locations: - p.Gly223Glu (Ensembl:ENST00000275815) - c.668G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1563118730 | 226 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399809T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399809T>G Locations: - p.Glu226Ala (Ensembl:ENST00000275815) - c.677A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs921315527 | 226 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399808T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399808T>G Locations: - p.Glu226Asp (Ensembl:ENST00000275815) - c.678A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1563118730 | 226 | E>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399809T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399809T>A Locations: - p.Glu226Val (Ensembl:ENST00000275815) - c.677A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1398546577 | 227 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399806A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399806A>G Locations: - p.Val227Ala (Ensembl:ENST00000275815) - c.680T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1314564039 | 227 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399807C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399807C>T Locations: - p.Val227Met (Ensembl:ENST00000275815) - c.679G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1409728916 | 228 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000007.14:g.143399804C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399804C>A Locations: - p.Ala228Ser (Ensembl:ENST00000275815) - c.682G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314567 | 228 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000007.14:g.143399804C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399804C>T Locations: - c.682G>A (NCI-TCGA:ENST00000275815) - p.A228T (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs750821899 | 228 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.143399803G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399803G>A Locations: - p.Ala228Val (Ensembl:ENST00000275815) - c.683C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs762026258 | 229 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399800C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399800C>T Locations: - p.Gly229Glu (Ensembl:ENST00000275815) - c.686G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs199988413 | 230 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000007.14:g.143399798T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399798T>C Locations: - p.Thr230Ala (Ensembl:ENST00000275815) - c.688A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs199988413 | 230 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.858) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399798T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399798T>G Locations: - p.Thr230Pro (Ensembl:ENST00000275815) - c.688A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs780968060 | 233 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143399789G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399789G>T Locations: - p.Pro233Thr (Ensembl:ENST00000275815) - c.697C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1215181856 | 234 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143399786G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399786G>T Locations: - p.His234Asn (Ensembl:ENST00000275815) - c.700C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1445436832 | 234 | H>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399785T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399785T>G Locations: - p.His234Pro (Ensembl:ENST00000275815) - c.701A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs200473622 | 234 | H>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399784G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399784G>T Locations: - p.His234Gln (Ensembl:ENST00000275815) - c.702C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1215181856 | 234 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143399786G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399786G>A Locations: - p.His234Tyr (Ensembl:ENST00000275815) - c.700C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs770915770 | 235 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399782G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399782G>T Locations: - p.Ala235Glu (Ensembl:ENST00000275815) - c.704C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs3812408 | 235 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399783C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399783C>G Locations: - p.Ala235Pro (Ensembl:ENST00000275815) - c.703G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs3812408 | 235 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399783C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399783C>T Locations: - p.Ala235Thr (Ensembl:ENST00000275815) - c.703G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51976174 rs770915770 | 235 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000008495 (gnomAD) Accession: NC_000007.14:g.143399782G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399782G>A Locations: - p.A235V (NCI-TCGA:ENST00000275815) - p.Ala235Val (Ensembl:ENST00000275815) - c.704C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs747845357 | 236 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143399779C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399779C>G Locations: - p.Arg236Pro (Ensembl:ENST00000275815) - c.707G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs747845357 | 236 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000007.14:g.143399779C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399779C>T Locations: - p.Arg236Gln (Ensembl:ENST00000275815) - c.707G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs201188496 | 236 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.232) - SIFT: deleterious (0.03) - PolyPhen: benign (0.229) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000007.14:g.143399780G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399780G>A Locations: - p.R236W (NCI-TCGA:ENST00000275815) - p.Arg236Trp (Ensembl:ENST00000275815) - c.706C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1586584398 | 237 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143399777C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399777C>G Locations: - p.Ala237Pro (Ensembl:ENST00000275815) - c.709G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs754645542 | 239 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.143399771G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399771G>C Locations: - p.Pro239Ala (Ensembl:ENST00000275815) - c.715C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805367092 | 239 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143399770G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399770G>A Locations: - p.Pro239Leu (Ensembl:ENST00000275815) - c.716C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805366945 | 241 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143399765G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399765G>A Locations: - p.Pro241Ser (Ensembl:ENST00000275815) - c.721C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs779696210 | 242 | S>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000007.14:g.143399762A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399762A>C Locations: - p.Ser242Ala (Ensembl:ENST00000275815) - c.724T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs912785967 | 243 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000007.14:g.143399758C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399758C>G Locations: - p.Gly243Ala (Ensembl:ENST00000275815) - c.728G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs912785967 | 243 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000007.14:g.143399758C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399758C>T Locations: - p.Gly243Asp (Ensembl:ENST00000275815) - c.728G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs912785967 | 243 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143399758C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399758C>A Locations: - p.Gly243Val (Ensembl:ENST00000275815) - c.728G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs369211431 | 245 | P>H | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.789) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399752G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399752G>T Locations: - p.Pro245His (Ensembl:ENST00000275815) - c.734C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1455925427 | 246 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399750G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399750G>A Locations: - p.Arg246Cys (Ensembl:ENST00000275815) - c.736C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51974273 rs200235266 | 246 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious (0.03) - PolyPhen: possibly damaging (0.787) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00006016 (gnomAD) Accession: NC_000007.14:g.143399749C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399749C>T Locations: - p.R246H (NCI-TCGA:ENST00000275815) - p.Arg246His (Ensembl:ENST00000275815) - c.737G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs200235266 | 246 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143399749C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399749C>A Locations: - p.Arg246Leu (Ensembl:ENST00000275815) - c.737G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1455925427 | 246 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.854) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143399750G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399750G>T Locations: - p.Arg246Ser (Ensembl:ENST00000275815) - c.736C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs750956234 | 247 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000007.14:g.143399745C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399745C>T Locations: - p.Met247Ile (Ensembl:ENST00000275815) - c.741G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1412768892 | 249 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399741A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399741A>G Locations: - p.Cys249Arg (Ensembl:ENST00000275815) - c.745T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs751843044 | 252 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000007.14:g.143399730A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399730A>C Locations: - p.Asp252Glu (Ensembl:ENST00000275815) - c.756T>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs763151811 | 253 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399728C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399728C>G Locations: - p.Gly253Ala (Ensembl:ENST00000275815) - c.758G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs763151811 | 253 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399728C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399728C>A Locations: - p.Gly253Val (Ensembl:ENST00000275815) - c.758G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs549085590 | 254 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143399726C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399726C>T Locations: - p.Glu254Lys (Ensembl:ENST00000275815) - c.760G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs963454089 | 255 | W>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399721C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399721C>A Locations: - p.Trp255Cys (Ensembl:ENST00000275815) - c.765G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805364365 | 255 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399723A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399723A>G Locations: - p.Trp255Arg (Ensembl:ENST00000275815) - c.763T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs201380861 | 257 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399716A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399716A>C Locations: - p.Val257Gly (Ensembl:ENST00000275815) - c.770T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs771860596 | 258 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399714G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399714G>C Locations: - p.Pro258Ala (Ensembl:ENST00000275815) - c.772C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805363595 | 258 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399713G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399713G>C Locations: - p.Pro258Arg (Ensembl:ENST00000275815) - c.773C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs771860596 | 258 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399714G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399714G>A Locations: - p.Pro258Ser (Ensembl:ENST00000275815) - c.772C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs748014434 | 259 | V>G | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.731) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399710A>C Codon: GTA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399710A>C Locations: - p.Val259Gly (Ensembl:ENST00000275815) - c.776T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805363372 | 259 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.225) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000007.14:g.143399711C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399711C>T Locations: - p.Val259Ile (Ensembl:ENST00000275815) - c.775G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1390169786 | 260 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399707C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399707C>T Locations: - p.Gly260Glu (Ensembl:ENST00000275815) - c.779G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51973006 | 261 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000007.14:g.143399704C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399704C>A Locations: - c.782G>T (NCI-TCGA:ENST00000275815) - p.R261L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs201209720 | 261 | R>P | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.338) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399704C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399704C>G Locations: - p.Arg261Pro (Ensembl:ENST00000275815) - c.782G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs201209720 | 261 | R>Q | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143399704C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399704C>T Locations: - p.Arg261Gln (Ensembl:ENST00000275815) - c.782G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs140233341 | 261 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.425) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.604) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00009213 (gnomAD) Accession: NC_000007.14:g.143399705G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399705G>A Locations: - p.R261W (NCI-TCGA:ENST00000275815) - p.Arg261Trp (Ensembl:ENST00000275815) - c.781C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1586584265 | 262 | C>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399702A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399702A>C Locations: - p.Cys262Gly (Ensembl:ENST00000275815) - c.784T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1586584265 | 262 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399702A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399702A>G Locations: - p.Cys262Arg (Ensembl:ENST00000275815) - c.784T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314950 | 262 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.613) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143399701C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399701C>T Locations: - c.785G>A (NCI-TCGA:ENST00000275815) - p.C262Y (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1270306538 | 263 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000007.14:g.143399697G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399697G>C Locations: - p.His263Gln (Ensembl:ENST00000275815) - c.789C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805362436 | 263 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000007.14:g.143399698T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399698T>C Locations: - p.His263Arg (Ensembl:ENST00000275815) - c.788A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1266044572 | 265 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143399692T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399692T>C Locations: - p.Glu265Gly (Ensembl:ENST00000275815) - c.794A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1353200268 | 265 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143399693C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399693C>T Locations: - p.Glu265Lys (Ensembl:ENST00000275815) - c.793G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs748954306 | 266 | P>L | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143399689G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399689G>A Locations: - p.Pro266Leu (Ensembl:ENST00000275815) - c.797C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs768480626 | 266 | P>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.569) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143399690G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399690G>A Locations: - p.Pro266Ser (Ensembl:ENST00000275815) - c.796C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs779796093 | 267 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399686C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399686C>T Locations: - p.Gly267Asp (Ensembl:ENST00000275815) - c.800G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805361597 | 267 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399687C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399687C>T Locations: - p.Gly267Ser (Ensembl:ENST00000275815) - c.799G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314464 | 268 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143399683T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399683T>C Locations: - c.803A>G (NCI-TCGA:ENST00000275815) - p.Y268C (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs755673712 | 268 | Y>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.857) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399684A>C Codon: TAT/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399684A>C Locations: - p.Tyr268Asp (Ensembl:ENST00000275815) - c.802T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1450812457 | 269 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399680T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399680T>C Locations: - p.Glu269Gly (Ensembl:ENST00000275815) - c.806A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1189757406 | 269 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399681C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399681C>T Locations: - p.Glu269Lys (Ensembl:ENST00000275815) - c.805G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1450812457 | 269 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399680T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399680T>A Locations: - p.Glu269Val (Ensembl:ENST00000275815) - c.806A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51976216 rs745331095 | 270 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.21) - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.27) Somatic: No Population frequencies: - MAF: 0.000004001 (gnomAD) Accession: NC_000007.14:g.143399678C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399678C>T Locations: - p.E270K (NCI-TCGA:ENST00000275815) - p.Glu270Lys (Ensembl:ENST00000275815) - c.808G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1264578895 | 271 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000007.14:g.143399674C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399674C>T Locations: - p.Gly271Asp (Ensembl:ENST00000275815) - c.812G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs781744273 | 272 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000007.14:g.143399671C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399671C>T Locations: - p.Gly272Asp (Ensembl:ENST00000275815) - c.815G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs757685325 | 274 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143399666C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399666C>T Locations: - p.Gly274Ser (Ensembl:ENST00000275815) - c.820G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51970988 rs778110783 | 275 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) - PolyPhen: benign (0.017) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.000004008 (gnomAD) Accession: NC_000007.14:g.143399663C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399663C>T Locations: - p.E275K (NCI-TCGA:ENST00000275815) - p.Glu275Lys (Ensembl:ENST00000275815) - c.823G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs2116627508 | 276 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000007.14:g.143399659G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399659G>C Locations: - p.Ala276Gly (Ensembl:ENST00000275815) - c.827C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1190425377 | 277 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399657A>T Codon: TGT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399657A>T Locations: - p.Cys277Ser (Ensembl:ENST00000275815) - c.829T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs998751117 | 278 | V>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399654C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399654C>A Locations: - p.Val278Phe (Ensembl:ENST00000275815) - c.832G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs754006853 | 279 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143399413G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399413G>A Locations: - p.Ala279Val (Ensembl:ENST00000275815) - c.836C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1222426721 | 281 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000007.14:g.143399408G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399408G>A Locations: - p.Pro281Ser (Ensembl:ENST00000275815) - c.841C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 282 | S>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000007.14:g.143399406del Consequence type: frameshift Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399406del Locations: - c.843del (NCI-TCGA:ENST00000275815) - p.S282Afs*58 (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1047186045 | 283 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143399401C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399401C>T Locations: - p.Gly283Asp (Ensembl:ENST00000275815) - c.848G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs760751325 | 283 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399402C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399402C>T Locations: - p.Gly283Ser (Ensembl:ENST00000275815) - c.847G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1047186045 | 283 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.341) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399401C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399401C>A Locations: - p.Gly283Val (Ensembl:ENST00000275815) - c.848G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs751565118 | 284 | S>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000007.14:g.143399398G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399398G>T Locations: - p.Ser284Tyr (Ensembl:ENST00000275815) - c.851C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs764084713 | 285 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399396A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399396A>G Locations: - p.Tyr285His (Ensembl:ENST00000275815) - c.853T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs149680322 | 286 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399393G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399393G>C Locations: - p.Arg286Gly (Ensembl:ENST00000275815) - c.856C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV99313977 rs759111320 | 286 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00001716 (gnomAD) Accession: NC_000007.14:g.143399392C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399392C>T Locations: - p.R286Q (NCI-TCGA:ENST00000275815) - p.Arg286Gln (Ensembl:ENST00000275815) - c.857G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs149680322 | 286 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399393G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399393G>A Locations: - p.Arg286Trp (Ensembl:ENST00000275815) - c.856C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51968603 | 287 | M>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000007.14:g.143399390T>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399390T>A Locations: - c.859A>T (NCI-TCGA:ENST00000275815) - p.M287L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116626971 | 287 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.143399389A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399389A>G Locations: - p.Met287Thr (Ensembl:ENST00000275815) - c.860T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1586583888 | 288 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143399386T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399386T>C Locations: - p.Asp288Gly (Ensembl:ENST00000275815) - c.863A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs139580332 | 289 | M>I | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143399382C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399382C>T Locations: - p.Met289Ile (Ensembl:ENST00000275815) - c.867G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1420650893 | 289 | M>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.143399383A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399383A>T Locations: - p.Met289Lys (Ensembl:ENST00000275815) - c.866T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs931346217 | 289 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143399384T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399384T>C Locations: - p.Met289Val (Ensembl:ENST00000275815) - c.865A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs376356192 | 292 | P>L | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000007.14:g.143399374G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399374G>A Locations: - p.Pro292Leu (Ensembl:ENST00000275815) - c.875C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs201804057 | 292 | P>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000007.14:g.143399375G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399375G>A Locations: - p.Pro292Ser (Ensembl:ENST00000275815) - c.874C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs201804057 | 292 | P>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000007.14:g.143399375G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399375G>T Locations: - p.Pro292Thr (Ensembl:ENST00000275815) - c.874C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805352648 | 294 | C>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399368C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399368C>A Locations: - p.Cys294Phe (Ensembl:ENST00000275815) - c.881G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs372725643 | 294 | C>R | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399369A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399369A>G Locations: - p.Cys294Arg (Ensembl:ENST00000275815) - c.880T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
TCGA novel | 294 | C>V | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000007.14:g.143399369del Consequence type: frameshift Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399369del Locations: - c.880del (NCI-TCGA:ENST00000275815) - p.C294Vfs*46 (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1805352648 | 294 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399368C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399368C>T Locations: - p.Cys294Tyr (Ensembl:ENST00000275815) - c.881G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1209926212 | 295 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.143399366G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399366G>A Locations: - p.Leu295Phe (Ensembl:ENST00000275815) - c.883C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99313825 | 295 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000007.14:g.143399366G>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399366G>C Locations: - c.883C>G (NCI-TCGA:ENST00000275815) - p.L295V (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs749818737 | 296 | T>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143399362G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399362G>A Locations: - p.Thr296Met (Ensembl:ENST00000275815) - c.887C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116626902 | 296 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000007.14:g.143399363T>G Codon: ACG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399363T>G Locations: - p.Thr296Pro (Ensembl:ENST00000275815) - c.886A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs779130970 | 299 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143399354G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399354G>A Locations: - p.Gln299Ter (Ensembl:ENST00000275815) - c.895C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1433233682 | 299 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000007.14:g.143399353T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399353T>A Locations: - p.Gln299Leu (Ensembl:ENST00000275815) - c.896A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1234156393 | 300 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143399351G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399351G>A Locations: - p.Gln300Ter (Ensembl:ENST00000275815) - c.898C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51976949 COSV99314294 | 300 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143399349C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399349C>A Locations: - c.900G>T (NCI-TCGA:ENST00000275815) - p.Q300H (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1234156393 | 300 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143399351G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399351G>T Locations: - p.Gln300Lys (Ensembl:ENST00000275815) - c.898C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1269104175 | 301 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399347C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399347C>A Locations: - p.Ser301Ile (Ensembl:ENST00000275815) - c.902G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1179553928 | 301 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399346G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399346G>T Locations: - p.Ser301Arg (Ensembl:ENST00000275815) - c.903C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1369463541 | 302 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000007.14:g.143399345T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399345T>C Locations: - p.Thr302Ala (Ensembl:ENST00000275815) - c.904A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1305651240 | 303 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000007.14:g.143399342C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399342C>T Locations: - p.Ala303Thr (Ensembl:ENST00000275815) - c.907G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805351654 | 306 | E>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143399333C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399333C>A Locations: - p.Glu306Ter (Ensembl:ENST00000275815) - c.916G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs755294761 | 307 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399330C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399330C>T Locations: - p.Gly307Arg (Ensembl:ENST00000275815) - c.919G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV99314239 rs1287321074 | 308 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.06) - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143399327C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399327C>T Locations: - p.A308T (NCI-TCGA:ENST00000275815) - p.Ala308Thr (Ensembl:ENST00000275815) - c.922G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs150974578 | 308 | A>V | 1000Genomes ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000007.14:g.143399326G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399326G>A Locations: - p.Ala308Val (Ensembl:ENST00000275815) - c.923C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs749476007 | 309 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.423) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.143399324T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399324T>C Locations: - p.Thr309Ala (Ensembl:ENST00000275815) - c.925A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805351077 | 309 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143399323G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399323G>A Locations: - p.Thr309Ile (Ensembl:ENST00000275815) - c.926C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs368306573 | 310 | I>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000007.14:g.143399321T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399321T>G Locations: - p.Ile310Leu (Ensembl:ENST00000275815) - c.928A>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs368306573 | 310 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000007.14:g.143399321T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399321T>C Locations: - p.Ile310Val (Ensembl:ENST00000275815) - c.928A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1199574359 | 313 | C>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143399311_143399312del Codon: TGTGAG/TGAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399311_143399312del Locations: - p.Cys313Ter (Ensembl:ENST00000275815) - c.939_940del (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs866186417 | 313 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399311C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399311C>A Locations: - p.Cys313Phe (Ensembl:ENST00000275815) - c.938G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805350772 | 313 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399312A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399312A>G Locations: - p.Cys313Arg (Ensembl:ENST00000275815) - c.937T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs55874355 | 314 | E>D | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.143399307C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399307C>G Locations: - p.Glu314Asp (Ensembl:ENST00000275815) - c.942G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs538968659 | 314 | E>K | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.143399309C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399309C>T Locations: - p.Glu314Lys (Ensembl:ENST00000275815) - c.940G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs752606620 | 315 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143399305C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399305C>T Locations: - p.Ser315Asn (Ensembl:ENST00000275815) - c.944G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs769788964 | 315 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143399304G>T, NC_000007.14:g.143399304G>C Codon: AGC/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399304G>T, NC_000007.14:g.143399304G>C Locations: - p.Ser315Arg (Ensembl:ENST00000275815) - c.945C>A (Ensembl:ENST00000275815) - c.945C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs766012017 | 316 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.143399302C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399302C>T Locations: - p.Gly316Asp (Ensembl:ENST00000275815) - c.947G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs776167447 | 316 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143399303C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399303C>T Locations: - p.Gly316Ser (Ensembl:ENST00000275815) - c.946G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1210636799 | 319 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399294T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399294T>C Locations: - p.Arg319Gly (Ensembl:ENST00000275815) - c.955A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1402059738 | 319 | R>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399292T>G Codon: AGA/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399292T>G Locations: - p.Arg319Ser (Ensembl:ENST00000275815) - c.957A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs553135371 | 320 | A>G | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399290G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399290G>C Locations: - p.Ala320Gly (Ensembl:ENST00000275815) - c.959C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1346262028 | 320 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143399291C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399291C>T Locations: - p.Ala320Thr (Ensembl:ENST00000275815) - c.958G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs553135371 | 320 | A>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143399290G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399290G>A Locations: - p.Ala320Val (Ensembl:ENST00000275815) - c.959C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1028814084 | 322 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.816) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143399285C>G, NC_000007.14:g.143399285C>T Codon: GGG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399285C>G, NC_000007.14:g.143399285C>T Locations: - p.Gly322Arg (Ensembl:ENST00000275815) - c.964G>C (Ensembl:ENST00000275815) - c.964G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1341375671 | 323 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143399280C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399280C>G Locations: - p.Glu323Asp (Ensembl:ENST00000275815) - c.969G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 323 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399282C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399282C>T Locations: - c.967G>A (NCI-TCGA:ENST00000275815) - p.E323K (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1805348964 | 325 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.143399276G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399276G>A Locations: - p.Pro325Ser (Ensembl:ENST00000275815) - c.973C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805348666 | 326 | Q>H | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143399271C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399271C>G Locations: - p.Gln326His (Ensembl:ENST00000275815) - c.978G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1563118204 | 326 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143399272T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399272T>G Locations: - p.Gln326Pro (Ensembl:ENST00000275815) - c.977A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs920137837 | 327 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000007.14:g.143399269A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399269A>G Locations: - p.Val327Ala (Ensembl:ENST00000275815) - c.980T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs748648594 | 327 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000007.14:g.143399270C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399270C>T Locations: - p.Val327Met (Ensembl:ENST00000275815) - c.979G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314812 rs1377102797 | 329 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143399263C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399263C>T Locations: - p.C329Y (NCI-TCGA:ENST00000275815) - p.Cys329Tyr (Ensembl:ENST00000275815) - c.986G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1787360676 | 330 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143399260G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399260G>A Locations: - p.Thr330Ile (Ensembl:ENST00000275815) - c.989C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51976747 | 331 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143399258C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399258C>A Locations: - c.991G>T (NCI-TCGA:ENST00000275815) - p.G331C (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1358763630 | 331 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398945C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398945C>T Locations: - p.Gly331Asp (Ensembl:ENST00000275815) - c.992G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51976747 | 331 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000007.14:g.143399258C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143399258C>T Locations: - c.991G>A (NCI-TCGA:ENST00000275815) - p.G331S (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs781511591 | 332 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398943G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398943G>C Locations: - p.Pro332Ala (Ensembl:ENST00000275815) - c.994C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1238073297 | 332 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000007.14:g.143398942G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398942G>A Locations: - p.Pro332Leu (Ensembl:ENST00000275815) - c.995C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs781511591 | 332 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398943G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398943G>A Locations: - p.Pro332Ser (Ensembl:ENST00000275815) - c.994C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs781511591 | 332 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398943G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398943G>T Locations: - p.Pro332Thr (Ensembl:ENST00000275815) - c.994C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs778751497 | 333 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398939G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398939G>A Locations: - p.Pro333Leu (Ensembl:ENST00000275815) - c.998C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1008147879 | 333 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398940G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398940G>A Locations: - p.Pro333Ser (Ensembl:ENST00000275815) - c.997C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs754919004 | 334 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398936G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398936G>A Locations: - p.Ser334Leu (Ensembl:ENST00000275815) - c.1001C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs779818196 | 335 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.143398934C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398934C>G Locations: - p.Ala335Pro (Ensembl:ENST00000275815) - c.1003G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs779818196 | 335 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398934C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398934C>T Locations: - p.Ala335Thr (Ensembl:ENST00000275815) - c.1003G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs755838535 | 335 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143398933G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398933G>A Locations: - p.Ala335Val (Ensembl:ENST00000275815) - c.1004C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1440878134 | 336 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398930G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398930G>T Locations: - p.Pro336His (Ensembl:ENST00000275815) - c.1007C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1440878134 | 336 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398930G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398930G>A Locations: - p.Pro336Leu (Ensembl:ENST00000275815) - c.1007C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1181013168 | 336 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398931G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398931G>A Locations: - p.Pro336Ser (Ensembl:ENST00000275815) - c.1006C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs767116546 | 337 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143398928G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398928G>A Locations: - p.Arg337Ter (Ensembl:ENST00000275815) - c.1009C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs201581948 | 337 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000007.14:g.143398927C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398927C>T Locations: - p.Arg337Gln (Ensembl:ENST00000275815) - c.1010G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805338938 | 338 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.667) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398923G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398923G>T Locations: - p.Asn338Lys (Ensembl:ENST00000275815) - c.1014C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805338699 | 340 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.143398917G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398917G>T Locations: - p.Ser340Arg (Ensembl:ENST00000275815) - c.1020C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs199837219 | 341 | F>C | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: tolerated (0.17) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143398915A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398915A>C Locations: - p.Phe341Cys (Ensembl:ENST00000275815) - c.1022T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs199837219 | 341 | F>S | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: tolerated (0.5) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143398915A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398915A>G Locations: - p.Phe341Ser (Ensembl:ENST00000275815) - c.1022T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs143872412 | 342 | S>C | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398912G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398912G>C Locations: - p.Ser342Cys (Ensembl:ENST00000275815) - c.1025C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805338501 | 342 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000007.14:g.143398913A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398913A>T Locations: - p.Ser342Thr (Ensembl:ENST00000275815) - c.1024T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1204837184 | 344 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000007.14:g.143398907A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398907A>G Locations: - p.Ser344Pro (Ensembl:ENST00000275815) - c.1030T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs763514757 | 346 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000007.14:g.143398901T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398901T>C Locations: - p.Thr346Ala (Ensembl:ENST00000275815) - c.1036A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs776076308 | 346 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398900G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398900G>A Locations: - p.Thr346Ile (Ensembl:ENST00000275815) - c.1037C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs895369223 | 347 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143398898G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398898G>C Locations: - p.Gln347Glu (Ensembl:ENST00000275815) - c.1039C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1240735868 | 347 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.195) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000007.14:g.143398897T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398897T>C Locations: - p.Gln347Arg (Ensembl:ENST00000275815) - c.1040A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314506 rs1370189067 | 348 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398895G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398895G>A Locations: - p.L348F (NCI-TCGA:ENST00000275815) - p.Leu348Phe (Ensembl:ENST00000275815) - c.1042C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1300542881 | 348 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398894A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398894A>G Locations: - p.Leu348Pro (Ensembl:ENST00000275815) - c.1043T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1056746694 | 349 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143398891G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398891G>T Locations: - p.Ser349Tyr (Ensembl:ENST00000275815) - c.1046C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
VAR_042115 rs56006153 | 351 | R>C | UniProt ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000007.14:g.143398886G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398886G>A Locations: - p.Arg351Cys (UniProt:P21709) Source type: mixed Cross-references: | |||||||
rs111641464 | 351 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.143398885C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398885C>T Locations: - p.Arg351His (Ensembl:ENST00000275815) - c.1052G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs111641464 | 351 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.157) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143398885C>A Codon: CGT/CTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398885C>A Locations: - p.Arg351Leu (Ensembl:ENST00000275815) - c.1052G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314529 | 352 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000007.14:g.143398881C>T Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398881C>T Locations: - c.1056G>A (NCI-TCGA:ENST00000275815) - p.W352* (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1398632917 | 352 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398881C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398881C>A Locations: - p.Trp352Cys (Ensembl:ENST00000275815) - c.1056G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs771244062 | 354 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398877G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398877G>T Locations: - p.Pro354Thr (Ensembl:ENST00000275815) - c.1060C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs747104136 | 355 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398874G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398874G>T Locations: - p.Pro355Thr (Ensembl:ENST00000275815) - c.1063C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs777893167 | 356 | A>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.144) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000007.14:g.143398870G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398870G>T Locations: - p.Ala356Glu (Ensembl:ENST00000275815) - c.1067C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51971858 | 357 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000007.14:g.143398866A>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398866A>T Locations: - c.1071T>A (NCI-TCGA:ENST00000275815) - p.D357E (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1192382687 | 357 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398868C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398868C>A Locations: - p.Asp357Tyr (Ensembl:ENST00000275815) - c.1069G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51971846 | 358 | T>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000007.14:g.143398864G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398864G>T Locations: - c.1073C>A (NCI-TCGA:ENST00000275815) - p.T358K (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs370810516 | 358 | T>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.143398864G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398864G>A Locations: - p.Thr358Met (Ensembl:ENST00000275815) - c.1073C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1192707729 | 359 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398861C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398861C>G Locations: - p.Gly359Ala (Ensembl:ENST00000275815) - c.1076G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1192707729 | 359 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398861C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398861C>T Locations: - p.Gly359Glu (Ensembl:ENST00000275815) - c.1076G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99313505 COSV99313676 | 359 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398862C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398862C>T Locations: - c.1075G>A (NCI-TCGA:ENST00000275815) - p.G359R (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs750188342 | 360 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.153) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398858C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398858C>T Locations: - p.Gly360Glu (Ensembl:ENST00000275815) - c.1079G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs139831060 | 360 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.838) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398859C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398859C>T Locations: - p.Gly360Arg (Ensembl:ENST00000275815) - c.1078G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs200253721 | 361 | R>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398856G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398856G>A Locations: - p.Arg361Cys (Ensembl:ENST00000275815) - c.1081C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs144736263 | 361 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001631 (gnomAD) Accession: NC_000007.14:g.143398855C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398855C>T Locations: - p.R361H (NCI-TCGA:ENST00000275815) - p.Arg361His (Ensembl:ENST00000275815) - c.1082G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1367657243 | 362 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143398851C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398851C>G Locations: - p.Gln362His (Ensembl:ENST00000275815) - c.1086G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1220921084 | 362 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143398852T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398852T>G Locations: - p.Gln362Pro (Ensembl:ENST00000275815) - c.1085A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1220921084 | 362 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000007.14:g.143398852T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398852T>C Locations: - p.Gln362Arg (Ensembl:ENST00000275815) - c.1085A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1269108743 | 364 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000007.14:g.143398847C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398847C>T Locations: - p.Val364Ile (Ensembl:ENST00000275815) - c.1090G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1478960763 | 365 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398844T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398844T>C Locations: - p.Arg365Gly (Ensembl:ENST00000275815) - c.1093A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1424510804 | 365 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000007.14:g.143398842T>A, NC_000007.14:g.143398842T>G Codon: AGA/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398842T>A, NC_000007.14:g.143398842T>G Locations: - p.Arg365Ser (Ensembl:ENST00000275815) - c.1095A>T (Ensembl:ENST00000275815) - c.1095A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs751098607 | 366 | Y>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398840T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398840T>A Locations: - p.Tyr366Phe (Ensembl:ENST00000275815) - c.1097A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs965820153 | 366 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398841A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398841A>G Locations: - p.Tyr366His (Ensembl:ENST00000275815) - c.1096T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs763667866 | 367 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143398837C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398837C>G Locations: - p.Ser367Thr (Ensembl:ENST00000275815) - c.1100G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805335025 | 370 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398828C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398828C>T Locations: - p.Cys370Tyr (Ensembl:ENST00000275815) - c.1109G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1420692583 | 371 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143398826A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398826A>C Locations: - p.Ser371Ala (Ensembl:ENST00000275815) - c.1111T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1161570547 | 372 | Q>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398822T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398822T>G Locations: - p.Gln372Pro (Ensembl:ENST00000275815) - c.1115A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1161570547 | 372 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143398822T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398822T>C Locations: - p.Gln372Arg (Ensembl:ENST00000275815) - c.1115A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805334671 | 373 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398819C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398819C>T Locations: - p.Cys373Tyr (Ensembl:ENST00000275815) - c.1118G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs765803133 | 374 | Q>* | ExAC | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143398817G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398817G>A Locations: - p.Gln374Ter (Ensembl:ENST00000275815) - c.1120C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805334538 | 374 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000007.14:g.143398816T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398816T>A Locations: - p.Gln374Leu (Ensembl:ENST00000275815) - c.1121A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51970393 | 375 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000007.14:g.143398814C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398814C>A Locations: - c.1123G>T (NCI-TCGA:ENST00000275815) - p.G375C (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs149370167 | 375 | G>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.462) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000007.14:g.143398814C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398814C>T Locations: - p.Gly375Ser (Ensembl:ENST00000275815) - c.1123G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51970234 | 376 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.77) Somatic: Yes Accession: NC_000007.14:g.143398811T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398811T>C Locations: - c.1126A>G (NCI-TCGA:ENST00000275815) - p.T376A (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1474516797 | 376 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.143398810G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398810G>A Locations: - p.Thr376Ile (Ensembl:ENST00000275815) - c.1127C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805334092 | 378 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143398805G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398805G>A Locations: - p.Gln378Ter (Ensembl:ENST00000275815) - c.1132C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs964228335 | 379 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.572) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143398802C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398802C>T Locations: - p.Asp379Asn (Ensembl:ENST00000275815) - c.1135G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs773238741 | 380 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000007.14:g.143398798C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398798C>T Locations: - p.Gly380Glu (Ensembl:ENST00000275815) - c.1139G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs760945286 | 380 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.314) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143398799C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398799C>T Locations: - p.Gly380Arg (Ensembl:ENST00000275815) - c.1138G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs773238741 | 380 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.594) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143398798C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398798C>A Locations: - p.Gly380Val (Ensembl:ENST00000275815) - c.1139G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1274962847 | 381 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.798) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143398795C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398795C>T Locations: - p.Gly381Glu (Ensembl:ENST00000275815) - c.1142G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805333227 | 381 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.843) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143398796C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398796C>T Locations: - p.Gly381Arg (Ensembl:ENST00000275815) - c.1141G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs57652656 | 382 | P>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.679) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000007.14:g.143398793G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398793G>C Locations: - p.Pro382Ala (Ensembl:ENST00000275815) - c.1144C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs57652656 | 382 | P>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000007.14:g.143398793G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398793G>A Locations: - p.Pro382Ser (Ensembl:ENST00000275815) - c.1144C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1212296171 | 385 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143398784G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398784G>A Locations: - p.Pro385Ser (Ensembl:ENST00000275815) - c.1153C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805332302 | 386 | C>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398779A>C Codon: TGT/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398779A>C Locations: - p.Cys386Trp (Ensembl:ENST00000275815) - c.1158T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314649 rs1034352541 | 387 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.28) - PolyPhen: benign (0.049) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000007.14:g.143398777C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398777C>T Locations: - p.G387E (NCI-TCGA:ENST00000275815) - p.Gly387Glu (Ensembl:ENST00000275815) - c.1160G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs150254405 | 387 | G>R | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.872) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398778C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398778C>T Locations: - p.Gly387Arg (Ensembl:ENST00000275815) - c.1159G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs756937821 | 389 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143398771C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398771C>T Locations: - p.Gly389Asp (Ensembl:ENST00000275815) - c.1166G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs145891509 | 390 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143398769C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398769C>G Locations: - p.Val390Leu (Ensembl:ENST00000275815) - c.1168G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs145891509 | 390 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398769C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398769C>T Locations: - p.Val390Met (Ensembl:ENST00000275815) - c.1168G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs752219228 | 391 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143398765T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398765T>C Locations: - p.His391Arg (Ensembl:ENST00000275815) - c.1172A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1416363336 | 391 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.216) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143398766G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398766G>A Locations: - p.His391Tyr (Ensembl:ENST00000275815) - c.1171C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs765890431 | 393 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.44) - PolyPhen: benign (0.202) - SIFT: tolerated (0.17) Somatic: No Population frequencies: - MAF: 0.00003197 (gnomAD) Accession: NC_000007.14:g.143398759G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398759G>A Locations: - p.S393L (NCI-TCGA:ENST00000275815) - p.Ser393Leu (Ensembl:ENST00000275815) - c.1178C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs140236236 | 394 | P>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.695) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398756G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398756G>A Locations: - p.Pro394Leu (Ensembl:ENST00000275815) - c.1181C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs760889211 | 396 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143398751C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398751C>T Locations: - p.Ala396Thr (Ensembl:ENST00000275815) - c.1186G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs151135649 | 396 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143398750G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398750G>A Locations: - p.Ala396Val (Ensembl:ENST00000275815) - c.1187C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs143087087 | 397 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000007.14:g.143398747C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398747C>T Locations: - p.Arg397Gln (Ensembl:ENST00000275815) - c.1190G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs375682369 | 397 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398748G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398748G>A Locations: - p.Arg397Trp (Ensembl:ENST00000275815) - c.1189C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs769791439 | 399 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398742G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398742G>A Locations: - p.Leu399Phe (Ensembl:ENST00000275815) - c.1195C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314053 rs1483496235 | 400 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.246) - SIFT: tolerated (0.08) - PolyPhen: benign (0.01) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00000797 (gnomAD) Accession: NC_000007.14:g.143398738G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398738G>A Locations: - p.T400I (NCI-TCGA:ENST00000275815) - p.Thr400Ile (Ensembl:ENST00000275815) - c.1199C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51971566 | 400 | T>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.37) Somatic: Yes Accession: NC_000007.14:g.143398739T>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398739T>A Locations: - c.1198A>T (NCI-TCGA:ENST00000275815) - p.T400S (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1041401654 | 401 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143398735G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398735G>A Locations: - p.Thr401Ile (Ensembl:ENST00000275815) - c.1202C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs776377613 | 402 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398732G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398732G>C Locations: - p.Pro402Arg (Ensembl:ENST00000275815) - c.1205C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs745812223 | 402 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.143398733G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398733G>A Locations: - p.Pro402Ser (Ensembl:ENST00000275815) - c.1204C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs745812223 | 402 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143398733G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398733G>T Locations: - p.Pro402Thr (Ensembl:ENST00000275815) - c.1204C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805329865 | 403 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000007.14:g.143398729G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398729G>A Locations: - p.Ala403Val (Ensembl:ENST00000275815) - c.1208C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1258191923 | 404 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143398727C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398727C>A Locations: - p.Val404Leu (Ensembl:ENST00000275815) - c.1210G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805329541 | 405 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143398723T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398723T>G Locations: - p.His405Pro (Ensembl:ENST00000275815) - c.1214A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs373557157 | 405 | H>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000007.14:g.143398722A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398722A>C Locations: - p.His405Gln (Ensembl:ENST00000275815) - c.1215T>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1332253649 | 405 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398724G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398724G>A Locations: - p.His405Tyr (Ensembl:ENST00000275815) - c.1213C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1473289970 | 406 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398720A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398720A>G Locations: - p.Val406Ala (Ensembl:ENST00000275815) - c.1217T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1389778296 | 407 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000007.14:g.143398718T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398718T>C Locations: - p.Asn407Asp (Ensembl:ENST00000275815) - c.1219A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1230393947 | 407 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143398717T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398717T>C Locations: - p.Asn407Ser (Ensembl:ENST00000275815) - c.1220A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51975564 | 408 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.828) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000007.14:g.143398715C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398715C>T Locations: - c.1222G>A (NCI-TCGA:ENST00000275815) - p.G408S (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1412334805 | 412 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143398703A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398703A>G Locations: - p.Tyr412His (Ensembl:ENST00000275815) - c.1234T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs867325911 | 413 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.381) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000007.14:g.143398699G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398699G>A Locations: - p.Ala413Val (Ensembl:ENST00000275815) - c.1238C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116624872 | 414 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398697T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398697T>C Locations: - p.Asn414Asp (Ensembl:ENST00000275815) - c.1240A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805328809 | 416 | T>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398690G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398690G>T Locations: - p.Thr416Asn (Ensembl:ENST00000275815) - c.1247C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs199888663 | 418 | N>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.1) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.143398683A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398683A>C Locations: - p.Asn418Lys (Ensembl:ENST00000275815) - c.1254T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805328525 | 419 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398681A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398681A>G Locations: - p.Val419Ala (Ensembl:ENST00000275815) - c.1256T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1388321070 | 419 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398682C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398682C>T Locations: - p.Val419Met (Ensembl:ENST00000275815) - c.1255G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 420 | E>K | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000007.14:g.143398679del Consequence type: frameshift Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398679del Locations: - c.1258del (NCI-TCGA:ENST00000275815) - p.E420Kfs*34 (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs778558358 | 420 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143398679C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398679C>T Locations: - p.Glu420Lys (Ensembl:ENST00000275815) - c.1258G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs766865327 | 421 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.49) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398675G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398675G>T Locations: - p.Ala421Asp (Ensembl:ENST00000275815) - c.1262C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs754469465 | 421 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398676C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398676C>T Locations: - p.Ala421Thr (Ensembl:ENST00000275815) - c.1261G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs766865327 | 421 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.334) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398675G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398675G>A Locations: - p.Ala421Val (Ensembl:ENST00000275815) - c.1262C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs942524237 | 422 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143398673G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398673G>A Locations: - p.Gln422Ter (Ensembl:ENST00000275815) - c.1264C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs942524237 | 422 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.143398673G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398673G>C Locations: - p.Gln422Glu (Ensembl:ENST00000275815) - c.1264C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs756532762 | 425 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398664C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398664C>T Locations: - p.Val425Met (Ensembl:ENST00000275815) - c.1273G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805328001 | 426 | S>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143398660G>T Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398660G>T Locations: - p.Ser426Ter (Ensembl:ENST00000275815) - c.1277C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs767837551 | 427 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.143398657C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398657C>A Locations: - p.Gly427Val (Ensembl:ENST00000275815) - c.1280G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1212536971 | 428 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143398654A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398654A>T Locations: - p.Leu428Gln (Ensembl:ENST00000275815) - c.1283T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs762019218 | 429 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143398652C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398652C>G Locations: - p.Gly429Arg (Ensembl:ENST00000275815) - c.1285G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs762019218 | 429 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000007.14:g.143398652C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398652C>T Locations: - p.Gly429Ser (Ensembl:ENST00000275815) - c.1285G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1266841388 | 431 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398645G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398645G>C Locations: - p.Ser431Cys (Ensembl:ENST00000275815) - c.1292C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51975802 | 431 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000007.14:g.143398645G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398645G>A Locations: - c.1292C>T (NCI-TCGA:ENST00000275815) - p.S431F (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1203283583 | 431 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000007.14:g.143398646A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398646A>G Locations: - p.Ser431Pro (Ensembl:ENST00000275815) - c.1291T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1322662465 | 432 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000007.14:g.143398642C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398642C>A Locations: - p.Gly432Val (Ensembl:ENST00000275815) - c.1295G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs149068255 | 433 | H>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143398639T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398639T>C Locations: - p.His433Arg (Ensembl:ENST00000275815) - c.1298A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs368513616 | 434 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.143398636G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398636G>A Locations: - p.Ala434Val (Ensembl:ENST00000275815) - c.1301C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1440252878 | 436 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143398631T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398631T>C Locations: - p.Thr436Ala (Ensembl:ENST00000275815) - c.1306A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs763362632 | 436 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143398630G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398630G>A Locations: - p.Thr436Ile (Ensembl:ENST00000275815) - c.1307C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs763362632 | 436 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398630G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398630G>T Locations: - p.Thr436Asn (Ensembl:ENST00000275815) - c.1307C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1440252878 | 436 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143398631T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398631T>G Locations: - p.Thr436Pro (Ensembl:ENST00000275815) - c.1306A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1563117532 | 437 | S>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143398627G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398627G>A Locations: - p.Ser437Leu (Ensembl:ENST00000275815) - c.1310C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs760562408 | 438 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000007.14:g.143398625C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398625C>T Locations: - p.Val438Ile (Ensembl:ENST00000275815) - c.1312G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs772865226 | 442 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000007.14:g.143398613T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398613T>C Locations: - p.Met442Val (Ensembl:ENST00000275815) - c.1324A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805326512 | 443 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143398609C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398609C>T Locations: - p.Gly443Glu (Ensembl:ENST00000275815) - c.1328G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs771914513 | 445 | A>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.573) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398603G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398603G>T Locations: - p.Ala445Glu (Ensembl:ENST00000275815) - c.1334C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1156638928 | 445 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143398604C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398604C>T Locations: - p.Ala445Thr (Ensembl:ENST00000275815) - c.1333G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs747805007 | 446 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143398601C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398601C>T Locations: - p.Glu446Lys (Ensembl:ENST00000275815) - c.1336G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs773138765 | 450 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143398436C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398436C>T Locations: - p.Gly450Asp (Ensembl:ENST00000275815) - c.1349G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805320693 | 450 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.868) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143398437C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398437C>T Locations: - p.Gly450Ser (Ensembl:ENST00000275815) - c.1348G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805320167 | 451 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143398433A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398433A>G Locations: - p.Leu451Pro (Ensembl:ENST00000275815) - c.1352T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs774180152 | 452 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398430G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398430G>C Locations: - p.Ser452Cys (Ensembl:ENST00000275815) - c.1355C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs774180152 | 452 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143398430G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398430G>A Locations: - p.Ser452Phe (Ensembl:ENST00000275815) - c.1355C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs768392833 | 456 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000007.14:g.143398419C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398419C>A Locations: - p.Val456Leu (Ensembl:ENST00000275815) - c.1366G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs748879034 | 457 | K>M | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.741) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143398415T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398415T>A Locations: - p.Lys457Met (Ensembl:ENST00000275815) - c.1370A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805319547 | 457 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143398414C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398414C>A Locations: - p.Lys457Asn (Ensembl:ENST00000275815) - c.1371G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs779424882 | 458 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.331) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143398412T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398412T>G Locations: - p.Lys458Thr (Ensembl:ENST00000275815) - c.1373A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs202178565 | 460 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143398406G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398406G>A Locations: - p.Pro460Leu (Ensembl:ENST00000275815) - c.1379C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805319219 | 460 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.664) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000007.14:g.143398407G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398407G>A Locations: - p.Pro460Ser (Ensembl:ENST00000275815) - c.1378C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1295746198 | 461 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.388) - SIFT: tolerated (0.35) - PolyPhen: benign (0.398) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.143398404T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398404T>C Locations: - p.R461G (NCI-TCGA:ENST00000275815) - p.Arg461Gly (Ensembl:ENST00000275815) - c.1381A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs757242801 | 462 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143398401G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398401G>A Locations: - p.Gln462Ter (Ensembl:ENST00000275815) - c.1384C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805318678 | 462 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398400T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398400T>A Locations: - p.Gln462Leu (Ensembl:ENST00000275815) - c.1385A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805318625 | 464 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.636) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398394T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398394T>C Locations: - p.Glu464Gly (Ensembl:ENST00000275815) - c.1391A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs539891278 | 466 | T>N | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.43) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398388G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398388G>T Locations: - p.Thr466Asn (Ensembl:ENST00000275815) - c.1397C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51972371 | 467 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143398384C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398384C>A Locations: - c.1401G>T (NCI-TCGA:ENST00000275815) - p.W467C (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs751886971 | 467 | W>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398385C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398385C>A Locations: - p.Trp467Leu (Ensembl:ENST00000275815) - c.1400G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs757647389 | 467 | W>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398386A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398386A>G Locations: - p.Trp467Arg (Ensembl:ENST00000275815) - c.1399T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs577729690 | 468 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.262) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.143398382G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398382G>A Locations: - p.Ala468Val (Ensembl:ENST00000275815) - c.1403C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs758540262 | 469 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000007.14:g.143398379C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398379C>T Locations: - p.Gly469Glu (Ensembl:ENST00000275815) - c.1406G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1003754616 | 469 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.143398380C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398380C>T Locations: - p.Gly469Arg (Ensembl:ENST00000275815) - c.1405G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs143535859 | 471 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000007.14:g.143398373C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398373C>T Locations: - p.Arg471Gln (Ensembl:ENST00000275815) - c.1412G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs145268229 | 471 | R>W | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.00156986 (1000Genomes) Accession: NC_000007.14:g.143398374G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398374G>A Locations: - p.Arg471Trp (Ensembl:ENST00000275815) - c.1411C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51976363 rs201944531 | 473 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001591 (gnomAD) Accession: NC_000007.14:g.143398368G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398368G>A Locations: - p.R473* (NCI-TCGA:ENST00000275815) - p.Arg473Ter (Ensembl:ENST00000275815) - c.1417C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs201944531 | 473 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.667) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398368G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398368G>C Locations: - p.Arg473Gly (Ensembl:ENST00000275815) - c.1417C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs147852131 | 473 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143398367C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398367C>A Locations: - p.Arg473Leu (Ensembl:ENST00000275815) - c.1418G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs147852131 | 473 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143398367C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398367C>T Locations: - p.Arg473Gln (Ensembl:ENST00000275815) - c.1418G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1331468050 | 474 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.7) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000007.14:g.143398365T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398365T>G Locations: - p.Ser474Arg (Ensembl:ENST00000275815) - c.1420A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51976657 | 475 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000007.14:g.143398361G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398361G>T Locations: - c.1424C>A (NCI-TCGA:ENST00000275815) - p.P475H (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs187179716 | 475 | P>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.15) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.143398362G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398362G>A Locations: - p.Pro475Ser (Ensembl:ENST00000275815) - c.1423C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1187305212 | 476 | G>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398359C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398359C>A Locations: - p.Gly476Trp (Ensembl:ENST00000275815) - c.1426G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs373049955 | 477 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000007.14:g.143398355G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398355G>A Locations: - p.Ala477Val (Ensembl:ENST00000275815) - c.1430C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs775148876 | 480 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143398346G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398346G>A Locations: - p.Thr480Ile (Ensembl:ENST00000275815) - c.1439C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805316774 | 480 | T>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143398347T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398347T>G Locations: - p.Thr480Pro (Ensembl:ENST00000275815) - c.1438A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs769207409 | 481 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398343T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398343T>C Locations: - p.Tyr481Cys (Ensembl:ENST00000275815) - c.1442A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs73154214 | 484 | H>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.79) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000007.14:g.143398333G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398333G>T Locations: - p.His484Gln (Ensembl:ENST00000275815) - c.1452C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805316262 | 485 | V>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398331A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398331A>T Locations: - p.Val485Glu (Ensembl:ENST00000275815) - c.1454T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs144470322 | 485 | V>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143398332C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398332C>A Locations: - p.Val485Leu (Ensembl:ENST00000275815) - c.1453G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs144470322 | 485 | V>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143398332C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398332C>T Locations: - p.Val485Met (Ensembl:ENST00000275815) - c.1453G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 487 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.258) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143398325T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398325T>C Locations: - c.1460A>G (NCI-TCGA:ENST00000275815) - p.N487S (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs749437637 | 489 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.408) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398070C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398070C>G Locations: - p.Asp489His (Ensembl:ENST00000275815) - c.1465G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs749437637 | 489 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143398070C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398070C>T Locations: - p.Asp489Asn (Ensembl:ENST00000275815) - c.1465G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs749437637 | 489 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398070C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398070C>A Locations: - p.Asp489Tyr (Ensembl:ENST00000275815) - c.1465G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
VAR_028266 rs11768549 | 492 | R>Q | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000007.14:g.143398060C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398060C>T Locations: - p.Arg492Gln (UniProt:P21709) Source type: mixed Cross-references: | |||||||
COSV51973676 rs756203512 | 492 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Population frequencies: - MAF: 0.00001991 (gnomAD) Accession: NC_000007.14:g.143398061G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398061G>A Locations: - p.R492W (NCI-TCGA:ENST00000275815) - p.Arg492Trp (Ensembl:ENST00000275815) - c.1474C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805309396 | 494 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143398055G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398055G>A Locations: - p.Gln494Ter (Ensembl:ENST00000275815) - c.1480C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs375144213 | 494 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000007.14:g.143398053C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398053C>G Locations: - p.Gln494His (Ensembl:ENST00000275815) - c.1482G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
TCGA novel | 494 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.294) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000007.14:g.143398054T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398054T>C Locations: - c.1481A>G (NCI-TCGA:ENST00000275815) - p.Q494R (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs752512314 | 495 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143398051A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398051A>G Locations: - p.Met495Thr (Ensembl:ENST00000275815) - c.1484T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1303820676 | 495 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.96) Somatic: No Accession: NC_000007.14:g.143398052T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398052T>C Locations: - p.Met495Val (Ensembl:ENST00000275815) - c.1483A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs764851795 | 496 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.639) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398048A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398048A>G Locations: - p.Val496Ala (Ensembl:ENST00000275815) - c.1487T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116623305 | 496 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000007.14:g.143398049C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398049C>T Locations: - p.Val496Ile (Ensembl:ENST00000275815) - c.1486G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs759180125 | 497 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.591) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000007.14:g.143398046G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398046G>T Locations: - p.Leu497Ile (Ensembl:ENST00000275815) - c.1489C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs759180125 | 497 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.407) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.143398046G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398046G>C Locations: - p.Leu497Val (Ensembl:ENST00000275815) - c.1489C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1706447180 | 499 | P>L | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143398039G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398039G>A Locations: - p.Pro499Leu (Ensembl:ENST00000275815) - c.1496C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs765891077 | 500 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143398037T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398037T>C Locations: - p.Arg500Gly (Ensembl:ENST00000275815) - c.1498A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs765891077 | 500 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398037T>A Codon: AGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398037T>A Locations: - p.Arg500Trp (Ensembl:ENST00000275815) - c.1498A>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1331331625 | 501 | V>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143398034C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398034C>A Locations: - p.Val501Phe (Ensembl:ENST00000275815) - c.1501G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1399765615 | 507 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143398016G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398016G>A Locations: - p.Gln507Ter (Ensembl:ENST00000275815) - c.1519C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1228564780 | 509 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.143398010C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143398010C>T Locations: - p.Asp509Asn (Ensembl:ENST00000275815) - c.1525G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs773742864 | 513 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000007.14:g.143397998T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397998T>C Locations: - p.Ile513Val (Ensembl:ENST00000275815) - c.1537A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
CM1512490 COSV51973321 rs567483385 | 514 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.11) - PolyPhen: benign (0.015) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000007.14:g.143397995C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397995C>T Locations: - p.V514I (NCI-TCGA:ENST00000275815) - p.Val514Ile (Ensembl:ENST00000275815) - c.1540G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: CM1512490 | |||||||
rs567483385 | 514 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000007.14:g.143397995C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397995C>G Locations: - p.Val514Leu (Ensembl:ENST00000275815) - c.1540G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs774766257 | 515 | R>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143397992T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397992T>A Locations: - p.Arg515Ter (Ensembl:ENST00000275815) - c.1543A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs964910085 | 515 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143397990T>G Codon: AGA/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397990T>G Locations: - p.Arg515Ser (Ensembl:ENST00000275815) - c.1545A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805307392 | 516 | V>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143397989C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397989C>A Locations: - p.Val516Phe (Ensembl:ENST00000275815) - c.1546G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51968826 | 517 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000007.14:g.143397986G>A Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397986G>A Locations: - c.1549C>T (NCI-TCGA:ENST00000275815) - p.R517* (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51970054 rs200836382 | 517 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.38) - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.9) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000007.14:g.143397985C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397985C>T Locations: - p.R517Q (NCI-TCGA:ENST00000275815) - p.Arg517Gln (Ensembl:ENST00000275815) - c.1550G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1193288958 | 518 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.143397982A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397982A>G Locations: - p.Met518Thr (Ensembl:ENST00000275815) - c.1553T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs372088764 | 518 | M>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.143397983T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397983T>C Locations: - p.Met518Val (Ensembl:ENST00000275815) - c.1552A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs2116623121 | 520 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000007.14:g.143397977T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397977T>A Locations: - p.Thr520Ser (Ensembl:ENST00000275815) - c.1558A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs371246344 | 524 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000007.14:g.143397964G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397964G>T Locations: - p.Pro524His (Ensembl:ENST00000275815) - c.1571C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs371246344 | 524 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143397964G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397964G>A Locations: - p.Pro524Leu (Ensembl:ENST00000275815) - c.1571C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805306785 | 524 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.838) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.143397965G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397965G>A Locations: - p.Pro524Ser (Ensembl:ENST00000275815) - c.1570C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs150816053 | 526 | P>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143397958G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397958G>C Locations: - p.Pro526Arg (Ensembl:ENST00000275815) - c.1577C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805306617 | 526 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000007.14:g.143397959G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397959G>A Locations: - p.Pro526Ser (Ensembl:ENST00000275815) - c.1576C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs867003393 | 527 | F>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.612) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143397956A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397956A>T Locations: - p.Phe527Ile (Ensembl:ENST00000275815) - c.1579T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51972873 | 527 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.334) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000007.14:g.143397954G>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397954G>C Locations: - c.1581C>G (NCI-TCGA:ENST00000275815) - p.F527L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51971306 | 528 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.143397952G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397952G>A Locations: - c.1583C>T (NCI-TCGA:ENST00000275815) - p.S528F (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs777617799 | 528 | S>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143397952G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397952G>T Locations: - p.Ser528Tyr (Ensembl:ENST00000275815) - c.1583C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51968414 | 529 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000007.14:g.143397949G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397949G>A Locations: - c.1586C>T (NCI-TCGA:ENST00000275815) - p.P529L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1275810756 | 530 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143397947C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397947C>T Locations: - p.Asp530Asn (Ensembl:ENST00000275815) - c.1588G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1449976693 | 531 | H>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143397944G>T Codon: CAT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397944G>T Locations: - p.His531Asn (Ensembl:ENST00000275815) - c.1591C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1220447296 | 531 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143397943T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397943T>C Locations: - p.His531Arg (Ensembl:ENST00000275815) - c.1592A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1181962967 | 532 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.665) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143397940T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397940T>C Locations: - p.Glu532Gly (Ensembl:ENST00000275815) - c.1595A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs778778160 | 534 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000007.14:g.143397934C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397934C>T Locations: - p.Arg534Gln (Ensembl:ENST00000275815) - c.1601G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs142265364 | 534 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143397935G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397935G>A Locations: - p.Arg534Trp (Ensembl:ENST00000275815) - c.1600C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs765978732 | 536 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.261) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143397928C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397928C>A Locations: - p.Ser536Ile (Ensembl:ENST00000275815) - c.1607G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs765978732 | 536 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.661) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000007.14:g.143397928C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397928C>T Locations: - p.Ser536Asn (Ensembl:ENST00000275815) - c.1607G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51973150 | 537 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.796) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000007.14:g.143397925G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397925G>A Locations: - c.1610C>T (NCI-TCGA:ENST00000275815) - p.P537L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1332849160 | 538 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.484) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000007.14:g.143397923G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397923G>C Locations: - p.Pro538Ala (Ensembl:ENST00000275815) - c.1612C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs760220358 | 538 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000007.14:g.143397922G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397922G>A Locations: - p.Pro538Leu (Ensembl:ENST00000275815) - c.1613C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs760220358 | 538 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.603) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000007.14:g.143397922G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397922G>C Locations: - p.Pro538Arg (Ensembl:ENST00000275815) - c.1613C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1332849160 | 538 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000007.14:g.143397923G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397923G>A Locations: - p.Pro538Ser (Ensembl:ENST00000275815) - c.1612C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 539 | V>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: - Somatic: No Accession: NC_000007.14:g.143397656C>T Consequence type: - Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397656C>T Locations: - c.1617G>A (NCI-TCGA:ENST00000275815) - p.V539= (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1805296522 | 539 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.98) Somatic: No Accession: NC_000007.14:g.143397657A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397657A>G Locations: - p.Val539Ala (Ensembl:ENST00000275815) - c.1616T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs771069813 | 540 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143397655A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397655A>G Locations: - p.Ser540Pro (Ensembl:ENST00000275815) - c.1618T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs774390706 | 542 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000007.14:g.143397648C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397648C>G Locations: - p.Gly542Ala (Ensembl:ENST00000275815) - c.1625G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs747022455 | 542 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000007.14:g.143397649C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397649C>T Locations: - p.Gly542Ser (Ensembl:ENST00000275815) - c.1624G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs774390706 | 542 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143397648C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397648C>A Locations: - p.Gly542Val (Ensembl:ENST00000275815) - c.1625G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1277534592 | 545 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.463) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.143397639C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397639C>G Locations: - p.Gly545Ala (Ensembl:ENST00000275815) - c.1634G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805295704 | 545 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143397640C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397640C>T Locations: - p.Gly545Arg (Ensembl:ENST00000275815) - c.1633G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 547 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143397634C>A Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397634C>A Locations: - c.1639G>T (NCI-TCGA:ENST00000275815) - p.E547* (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs936860521 | 547 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000007.14:g.143397632C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397632C>A Locations: - p.Glu547Asp (Ensembl:ENST00000275815) - c.1641G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805295461 | 547 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000007.14:g.143397634C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397634C>T Locations: - p.Glu547Lys (Ensembl:ENST00000275815) - c.1639G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1298929475 | 548 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000007.14:g.143397630A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397630A>G Locations: - p.Ile548Thr (Ensembl:ENST00000275815) - c.1643T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1381290223 | 549 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.143397627A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397627A>G Locations: - p.Val549Ala (Ensembl:ENST00000275815) - c.1646T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805295088 | 550 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143397625C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397625C>G Locations: - p.Ala550Pro (Ensembl:ENST00000275815) - c.1648G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs779820434 | 550 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.222) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000007.14:g.143397624G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397624G>A Locations: - p.Ala550Val (Ensembl:ENST00000275815) - c.1649C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1357284899 | 551 | V>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143397621A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397621A>T Locations: - p.Val551Asp (Ensembl:ENST00000275815) - c.1652T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs535509887 | 551 | V>I | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000007.14:g.143397622C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397622C>T Locations: - p.Val551Ile (Ensembl:ENST00000275815) - c.1651G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1425152855 | 552 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000007.14:g.143397619T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397619T>C Locations: - p.Ile552Val (Ensembl:ENST00000275815) - c.1654A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs780668174 | 553 | F>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143397615A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397615A>G Locations: - p.Phe553Ser (Ensembl:ENST00000275815) - c.1658T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs780668174 | 553 | F>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.599) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.143397615A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397615A>T Locations: - p.Phe553Tyr (Ensembl:ENST00000275815) - c.1658T>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1207373721 | 555 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143397609A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397609A>C Locations: - p.Leu555Arg (Ensembl:ENST00000275815) - c.1664T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs111778416 | 558 | G>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000007.14:g.143397600C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397600C>G Locations: - p.Gly558Ala (Ensembl:ENST00000275815) - c.1673G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805294004 | 558 | G>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143397601C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397601C>A Locations: - p.Gly558Cys (Ensembl:ENST00000275815) - c.1672G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs111778416 | 558 | G>D | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143397600C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397600C>T Locations: - p.Gly558Asp (Ensembl:ENST00000275815) - c.1673G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805294004 | 558 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143397601C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397601C>T Locations: - p.Gly558Ser (Ensembl:ENST00000275815) - c.1672G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs111778416 | 558 | G>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000007.14:g.143397600C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397600C>A Locations: - p.Gly558Val (Ensembl:ENST00000275815) - c.1673G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1250670366 | 560 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000007.14:g.143397594G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397594G>C Locations: - p.Ala560Gly (Ensembl:ENST00000275815) - c.1679C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1437436171 | 560 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143397595C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397595C>T Locations: - p.Ala560Thr (Ensembl:ENST00000275815) - c.1678G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805293117 | 564 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000007.14:g.143397583C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397583C>T Locations: - p.Gly564Arg (Ensembl:ENST00000275815) - c.1690G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 566 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.143397577G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397577G>T Locations: - c.1696C>A (NCI-TCGA:ENST00000275815) - p.L566I (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV51970638 rs555414886 | 567 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000007.14:g.143397574C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397574C>T Locations: - p.V567I (NCI-TCGA:ENST00000275815) - p.Val567Ile (Ensembl:ENST00000275815) - c.1699G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs555414886 | 567 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.143397574C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397574C>G Locations: - p.Val567Leu (Ensembl:ENST00000275815) - c.1699G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1360684162 | 568 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143397570A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397570A>G Locations: - p.Phe568Ser (Ensembl:ENST00000275815) - c.1703T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs776947009 | 569 | R>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.143397567C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397567C>G Locations: - p.Arg569Pro (Ensembl:ENST00000275815) - c.1706G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51973162 rs776947009 | 569 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: tolerated (0.34) - PolyPhen: benign (0.117) - SIFT: tolerated (0.3) Somatic: No Population frequencies: - MAF: 0.00001194 (gnomAD) Accession: NC_000007.14:g.143397567C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397567C>T Locations: - p.R569Q (NCI-TCGA:ENST00000275815) - p.Arg569Gln (Ensembl:ENST00000275815) - c.1706G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs200212760 | 569 | R>W | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.143397568G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397568G>A Locations: - p.Arg569Trp (Ensembl:ENST00000275815) - c.1705C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs765726381 | 570 | S>F | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000007.14:g.143397564G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397564G>A Locations: - p.Ser570Phe (Ensembl:ENST00000275815) - c.1709C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1365759219 | 571 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143397562T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397562T>C Locations: - p.Arg571Gly (Ensembl:ENST00000275815) - c.1711A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1002258055 | 573 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000007.14:g.143397358C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397358C>T Locations: - p.Ala573Thr (Ensembl:ENST00000275815) - c.1717G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs560427865 | 573 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.5) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143397357G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397357G>A Locations: - p.Ala573Val (Ensembl:ENST00000275815) - c.1718C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1366219382 | 574 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143397355G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397355G>A Locations: - p.Gln574Ter (Ensembl:ENST00000275815) - c.1720C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1366219382 | 574 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143397355G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397355G>C Locations: - p.Gln574Glu (Ensembl:ENST00000275815) - c.1720C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1263031167 | 574 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143397353C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397353C>G Locations: - p.Gln574His (Ensembl:ENST00000275815) - c.1722G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
VAR_042116 rs35719334 | 575 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | UniProt TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001965 (gnomAD) Accession: NC_000007.14:g.143397351C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397351C>T Locations: - p.Arg575Gln (UniProt:P21709) Source type: mixed | |||||||
rs780288031 | 575 | R>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143397352G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397352G>A Locations: - p.Arg575Trp (Ensembl:ENST00000275815) - c.1723C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1301595315 | 576 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000007.14:g.143397347C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397347C>G Locations: - p.Gln576His (Ensembl:ENST00000275815) - c.1728G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314048 | 576 | Q>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: Yes Accession: NC_000007.14:g.143397348T>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397348T>A Locations: - c.1727A>T (NCI-TCGA:ENST00000275815) - p.Q576L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs750667620 | 577 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143397346T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397346T>C Locations: - p.Arg577Gly (Ensembl:ENST00000275815) - c.1729A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1454467110 | 577-578 | RQ>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143397350_143397351insTACCTCTGC Codon: CGGCAGAGG/CGGCAGAGGTAGCAGAGG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397350_143397351insTACCTCTGC Locations: - p.Arg577_Gln578insTer (Ensembl:ENST00000275815) - c.1731_1732insTAGCAGAGG (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805283440 | 578 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143397343G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397343G>A Locations: - p.Gln578Ter (Ensembl:ENST00000275815) - c.1732C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1013254568 | 578 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000007.14:g.143397342T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397342T>C Locations: - p.Gln578Arg (Ensembl:ENST00000275815) - c.1733A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1317538155 | 579 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143397340G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397340G>A Locations: - p.Gln579Ter (Ensembl:ENST00000275815) - c.1735C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1317538155 | 579 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000007.14:g.143397340G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397340G>C Locations: - p.Gln579Glu (Ensembl:ENST00000275815) - c.1735C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1052212564 | 579 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000007.14:g.143397338C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397338C>A Locations: - p.Gln579His (Ensembl:ENST00000275815) - c.1737G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1563116532 | 581 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143397334G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397334G>A Locations: - p.Gln581Ter (Ensembl:ENST00000275815) - c.1741C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs574748801 | 582 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143397331G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397331G>A Locations: - p.Arg582Cys (Ensembl:ENST00000275815) - c.1744C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs555587376 | 582 | R>H | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: tolerated (0.18) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143397330C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397330C>T Locations: - p.Arg582His (Ensembl:ENST00000275815) - c.1745G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 582 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143397330C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397330C>A Locations: - c.1745G>T (NCI-TCGA:ENST00000275815) - p.R582L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1229337821 | 583 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143397328C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397328C>G Locations: - p.Asp583His (Ensembl:ENST00000275815) - c.1747G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs983868627 | 584 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143397325G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397325G>A Locations: - p.Arg584Cys (Ensembl:ENST00000275815) - c.1750C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs765284054 | 584 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143397324C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397324C>T Locations: - p.Arg584His (Ensembl:ENST00000275815) - c.1751G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
VAR_042117 rs34178823 | 585 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | UniProt 1000Genomes TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000007.14:g.143397322C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397322C>T Locations: - p.Ala585Thr (UniProt:P21709) Source type: mixed Cross-references: | |||||||
rs1336834470 | 585 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000007.14:g.143397321G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397321G>A Locations: - p.Ala585Val (Ensembl:ENST00000275815) - c.1754C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 586 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.81) Somatic: No Accession: NC_000007.14:g.143397319T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397319T>C Locations: - c.1756A>G (NCI-TCGA:ENST00000275815) - p.T586A (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1172447950 | 587 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.143397314A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397314A>T Locations: - p.Asp587Glu (Ensembl:ENST00000275815) - c.1761T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs866192433 | 587 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.143397316C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397316C>G Locations: - p.Asp587His (Ensembl:ENST00000275815) - c.1759G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs866192433 | 587 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.143397316C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397316C>T Locations: - p.D587N (NCI-TCGA:ENST00000275815) - p.Asp587Asn (Ensembl:ENST00000275815) - c.1759G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs866192433 | 587 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143397316C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397316C>A Locations: - p.Asp587Tyr (Ensembl:ENST00000275815) - c.1759G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1463832415 | 588 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.143397313C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397313C>T Locations: - p.Val588Met (Ensembl:ENST00000275815) - c.1762G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1374033123 | 589 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000007.14:g.143397309T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397309T>C Locations: - p.Asp589Gly (Ensembl:ENST00000275815) - c.1766A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1033504857 | 589 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000007.14:g.143397310C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397310C>T Locations: - p.Asp589Asn (Ensembl:ENST00000275815) - c.1765G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs776941825 | 590 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143397307G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397307G>A Locations: - p.Arg590Ter (Ensembl:ENST00000275815) - c.1768C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs776941825 | 590 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.352) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000007.14:g.143397307G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397307G>C Locations: - p.Arg590Gly (Ensembl:ENST00000275815) - c.1768C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1052285437 | 590 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000007.14:g.143397306C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143397306C>T Locations: - p.Arg590Gln (Ensembl:ENST00000275815) - c.1769G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1352423458 | 591 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.143396509C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396509C>A Locations: - p.Glu591Asp (Ensembl:ENST00000275815) - c.1773G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 592 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.411) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000007.14:g.143396507T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396507T>C Locations: - c.1775A>G (NCI-TCGA:ENST00000275815) - p.D592G (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs781449260 | 592 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143396508C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396508C>G Locations: - p.Asp592His (Ensembl:ENST00000275815) - c.1774G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs781449260 | 592 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396508C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396508C>A Locations: - p.Asp592Tyr (Ensembl:ENST00000275815) - c.1774G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs369040226 | 593 | K>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.169) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143396503C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396503C>G Locations: - p.Lys593Asn (Ensembl:ENST00000275815) - c.1779G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1221511235 | 594 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.286) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.143396502G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396502G>T Locations: - p.Leu594Met (Ensembl:ENST00000275815) - c.1780C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs764091010 | 596 | L>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143396496G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396496G>T Locations: - p.Leu596Met (Ensembl:ENST00000275815) - c.1786C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805255051 | 597 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396491C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396491C>G Locations: - p.Lys597Asn (Ensembl:ENST00000275815) - c.1791G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs758452852 | 598 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143396490G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396490G>C Locations: - p.Pro598Ala (Ensembl:ENST00000275815) - c.1792C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs753747935 | 599 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143396485A>T Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396485A>T Locations: - p.Tyr599Ter (Ensembl:ENST00000275815) - c.1797T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805254747 | 600 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396484C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396484C>T Locations: - p.Val600Met (Ensembl:ENST00000275815) - c.1798G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805254640 | 601 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396481C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396481C>T Locations: - p.Asp601Asn (Ensembl:ENST00000275815) - c.1801G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805254383 | 603 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.716) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143396473C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396473C>A Locations: - p.Gln603His (Ensembl:ENST00000275815) - c.1809G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1419645656 | 604 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396471G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396471G>T Locations: - p.Ala604Glu (Ensembl:ENST00000275815) - c.1811C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1378490342 | 605 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396469A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396469A>G Locations: - p.Tyr605His (Ensembl:ENST00000275815) - c.1813T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs754397131 | 606 | E>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396466C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396466C>T Locations: - p.Glu606Lys (Ensembl:ENST00000275815) - c.1816G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs146399527 | 607 | D>A | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396462T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396462T>G Locations: - p.Asp607Ala (Ensembl:ENST00000275815) - c.1820A>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1197085174 | 611 | G>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143396451C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396451C>A Locations: - p.Gly611Ter (Ensembl:ENST00000275815) - c.1831G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs376643332 | 612 | A>D | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396447G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396447G>T Locations: - p.Ala612Asp (Ensembl:ENST00000275815) - c.1835C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs376643332 | 612 | A>G | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.723) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396447G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396447G>C Locations: - p.Ala612Gly (Ensembl:ENST00000275815) - c.1835C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs767349665 | 612 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.561) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396448C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396448C>T Locations: - p.Ala612Thr (Ensembl:ENST00000275815) - c.1834G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs10952549 | 613 | L>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.141091 (1000Genomes) Accession: NC_000007.14:g.143396445G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396445G>T Locations: - p.Leu613Met (Ensembl:ENST00000275815) - c.1837C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1678992035 | 613 | L>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143396444A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396444A>C Locations: - p.Leu613Arg (Ensembl:ENST00000275815) - c.1838T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 614 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396442C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396442C>A Locations: - c.1840G>T (NCI-TCGA:ENST00000275815) - p.D614Y (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs768075049 | 616 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396435G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396435G>C Locations: - p.Thr616Ser (Ensembl:ENST00000275815) - c.1847C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs138935836 | 617 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Population frequencies: - MAF: 0.00003988 (gnomAD) Accession: NC_000007.14:g.143396432C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396432C>T Locations: - p.R617Q (NCI-TCGA:ENST00000275815) - p.Arg617Gln (Ensembl:ENST00000275815) - c.1850G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs200018558 | 617 | R>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.42) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396433G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396433G>A Locations: - p.Arg617Trp (Ensembl:ENST00000275815) - c.1849C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1392328745 | 618 | E>Q | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396430C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396430C>G Locations: - p.Glu618Gln (Ensembl:ENST00000275815) - c.1852G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805251041 | 619 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143396427G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396427G>T Locations: - p.Leu619Ile (Ensembl:ENST00000275815) - c.1855C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805251041 | 619 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396427G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396427G>C Locations: - p.Leu619Val (Ensembl:ENST00000275815) - c.1855C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805250826 | 620 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143396423T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396423T>C Locations: - p.Asp620Gly (Ensembl:ENST00000275815) - c.1859A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1284336251 | 620 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000007.14:g.143396424C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396424C>G Locations: - p.Asp620His (Ensembl:ENST00000275815) - c.1858G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1399859924 | 621 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396420G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396420G>A Locations: - p.Pro621Leu (Ensembl:ENST00000275815) - c.1862C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1399859924 | 621 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396420G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396420G>C Locations: - p.Pro621Arg (Ensembl:ENST00000275815) - c.1862C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs200499248 | 622 | A>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143396417G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396417G>T Locations: - p.Ala622Glu (Ensembl:ENST00000275815) - c.1865C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs200499248 | 622 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143396417G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396417G>A Locations: - p.Ala622Val (Ensembl:ENST00000275815) - c.1865C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1316479823 | 624 | L>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396411A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396411A>C Locations: - p.Leu624Arg (Ensembl:ENST00000275815) - c.1871T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1190218089 | 625 | M>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143396408A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396408A>G Locations: - p.Met625Thr (Ensembl:ENST00000275815) - c.1874T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805249902 | 626 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.565) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143396405A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396405A>G Locations: - p.Val626Ala (Ensembl:ENST00000275815) - c.1877T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs747214273 | 627 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143396402T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396402T>C Locations: - p.Asp627Gly (Ensembl:ENST00000275815) - c.1880A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1429662347 | 628 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.69) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396400T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396400T>C Locations: - p.Thr628Ala (Ensembl:ENST00000275815) - c.1882A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805249359 | 628 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396399G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396399G>A Locations: - p.Thr628Ile (Ensembl:ENST00000275815) - c.1883C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805249359 | 628 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.534) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143396399G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396399G>C Locations: - p.Thr628Ser (Ensembl:ENST00000275815) - c.1883C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1196145922 | 629 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396397C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396397C>T Locations: - p.Val629Ile (Ensembl:ENST00000275815) - c.1885G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1476759571 | 630 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396393A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396393A>G Locations: - p.Ile630Thr (Ensembl:ENST00000275815) - c.1889T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805248910 | 630 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143396394T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396394T>C Locations: - p.Ile630Val (Ensembl:ENST00000275815) - c.1888A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805219347 | 633 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395504C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395504C>T Locations: - p.Gly633Glu (Ensembl:ENST00000275815) - c.1898G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs369094884 | 633 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143396385C>T, NC_000007.14:g.143396385C>G Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143396385C>T, NC_000007.14:g.143396385C>G Locations: - p.Gly633Arg (Ensembl:ENST00000275815) - c.1897G>A (Ensembl:ENST00000275815) - c.1897G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
TCGA novel | 634 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143395502C>A Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395502C>A Locations: - c.1900G>T (NCI-TCGA:ENST00000275815) - p.E634* (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs899153539 | 634 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395500C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395500C>A Locations: - p.Glu634Asp (Ensembl:ENST00000275815) - c.1902G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1170878071 | 637 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143395493C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395493C>A Locations: - p.Glu637Ter (Ensembl:ENST00000275815) - c.1909G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1404616704 | 637 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.515) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395492T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395492T>C Locations: - p.Glu637Gly (Ensembl:ENST00000275815) - c.1910A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1383290063 | 638 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395490C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395490C>G Locations: - p.Val638Leu (Ensembl:ENST00000275815) - c.1912G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs544066979 | 639 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.143395486T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395486T>C Locations: - p.Tyr639Cys (Ensembl:ENST00000275815) - c.1916A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs112723648 | 640 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000007.14:g.143395484G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395484G>A Locations: - p.R640* (NCI-TCGA:ENST00000275815) - p.Arg640Ter (Ensembl:ENST00000275815) - c.1918C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs112723648 | 640 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395484G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395484G>C Locations: - p.Arg640Gly (Ensembl:ENST00000275815) - c.1918C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs761006248 | 640 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143395483C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395483C>T Locations: - p.Arg640Gln (Ensembl:ENST00000275815) - c.1919G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs529885927 | 641 | G>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143395481C>T, NC_000007.14:g.143395481C>G Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395481C>T, NC_000007.14:g.143395481C>G Locations: - p.Gly641Arg (Ensembl:ENST00000275815) - c.1921G>A (Ensembl:ENST00000275815) - c.1921G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1586579610 | 642 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143395478T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395478T>G Locations: - p.Thr642Pro (Ensembl:ENST00000275815) - c.1924A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805218153 | 644 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143395471C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395471C>T Locations: - p.Arg644Lys (Ensembl:ENST00000275815) - c.1931G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs772261312 | 645 | L>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000007.14:g.143395469G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395469G>T Locations: - p.Leu645Ile (Ensembl:ENST00000275815) - c.1933C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1586579598 | 645 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143395468A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395468A>G Locations: - p.Leu645Pro (Ensembl:ENST00000275815) - c.1934T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs748417082 | 646 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395465G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395465G>A Locations: - p.Pro646Leu (Ensembl:ENST00000275815) - c.1937C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805217669 | 647 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395462C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395462C>A Locations: - p.Ser647Ile (Ensembl:ENST00000275815) - c.1940G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs768890787 | 648 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143395460G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395460G>A Locations: - p.Gln648Ter (Ensembl:ENST00000275815) - c.1942C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1290195084 | 649 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143395457C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395457C>T Locations: - p.Asp649Asn (Ensembl:ENST00000275815) - c.1945G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1248856138 | 650 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000007.14:g.143395454A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395454A>G Locations: - p.Cys650Arg (Ensembl:ENST00000275815) - c.1948T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs373965465 | 650 | C>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000007.14:g.143395453C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395453C>G Locations: - p.Cys650Ser (Ensembl:ENST00000275815) - c.1949G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs373965465 | 650 | C>Y | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143395453C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395453C>T Locations: - p.Cys650Tyr (Ensembl:ENST00000275815) - c.1949G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs749349744 | 651 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.143395450T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395450T>G Locations: - p.Lys651Thr (Ensembl:ENST00000275815) - c.1952A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116616798 | 652 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143395448T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395448T>C Locations: - p.Thr652Ala (Ensembl:ENST00000275815) - c.1954A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs374663592 | 655 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395437A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395437A>C Locations: - p.Ile655Met (Ensembl:ENST00000275815) - c.1965T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs879098618 | 655 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143395439T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395439T>C Locations: - p.Ile655Val (Ensembl:ENST00000275815) - c.1963A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51972533 rs1805216810 | 658 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143395428T>G, NC_000007.14:g.143395428T>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395428T>G, NC_000007.14:g.143395428T>A Locations: - c.1974A>C (NCI-TCGA:ENST00000275815) - p.L658F (NCI-TCGA:ENST00000275815) - p.Leu658Phe (Ensembl:ENST00000275815) - c.1974A>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs781335770 | 659 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395427T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395427T>C Locations: - p.Lys659Glu (Ensembl:ENST00000275815) - c.1975A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1375790178 | 662 | S>Y | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143395417G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395417G>T Locations: - p.Ser662Tyr (Ensembl:ENST00000275815) - c.1985C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs757213006 | 663 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395414G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395414G>A Locations: - p.Pro663Leu (Ensembl:ENST00000275815) - c.1988C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs751386524 | 664 | G>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395412C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395412C>A Locations: - p.Gly664Cys (Ensembl:ENST00000275815) - c.1990G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs751386524 | 664 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395412C>G Codon: GGT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395412C>G Locations: - p.Gly664Arg (Ensembl:ENST00000275815) - c.1990G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1375071460 | 665 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000007.14:g.143395409C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395409C>T Locations: - p.Gly665Ser (Ensembl:ENST00000275815) - c.1993G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs777636741 | 666 | Q>H | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143395404C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395404C>G Locations: - p.Gln666His (Ensembl:ENST00000275815) - c.1998G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs993369891 | 666 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395405T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395405T>C Locations: - p.Gln666Arg (Ensembl:ENST00000275815) - c.1997A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805216048 | 667 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143395402C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395402C>T Locations: - p.Trp667Ter (Ensembl:ENST00000275815) - c.2000G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805216103 | 667 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143395403A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395403A>G Locations: - p.Trp667Arg (Ensembl:ENST00000275815) - c.1999T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805215988 | 670 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395394A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395394A>G Locations: - p.Phe670Leu (Ensembl:ENST00000275815) - c.2008T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805215813 | 671 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143395391G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395391G>A Locations: - p.Leu671Phe (Ensembl:ENST00000275815) - c.2011C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51976327 | 671 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143395391G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395391G>T Locations: - c.2011C>A (NCI-TCGA:ENST00000275815) - p.L671I (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs758075798 | 672 | R>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143395388G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395388G>A Locations: - p.Arg672Ter (Ensembl:ENST00000275815) - c.2014C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs752373855 | 672 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143395387C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395387C>T Locations: - p.Arg672Gln (Ensembl:ENST00000275815) - c.2015G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1398707074 | 673 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395384T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395384T>C Locations: - p.Glu673Gly (Ensembl:ENST00000275815) - c.2018A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs759092209 | 674 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395382C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395382C>A Locations: - p.Ala674Ser (Ensembl:ENST00000275815) - c.2020G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs759092209 | 674 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000007.14:g.143395382C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395382C>T Locations: - p.A674T (NCI-TCGA:ENST00000275815) - p.Ala674Thr (Ensembl:ENST00000275815) - c.2020G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs753335365 | 677 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395373T>G, NC_000007.14:g.143395373T>A Codon: ATG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395373T>G, NC_000007.14:g.143395373T>A Locations: - p.Met677Leu (Ensembl:ENST00000275815) - c.2029A>C (Ensembl:ENST00000275815) - c.2029A>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs766864547 | 678 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395370C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395370C>G Locations: - p.Gly678Arg (Ensembl:ENST00000275815) - c.2032G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99313652 | 678 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143395369C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395369C>A Locations: - c.2033G>T (NCI-TCGA:ENST00000275815) - p.G678V (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 679 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395365C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395365C>A Locations: - c.2037G>T (NCI-TCGA:ENST00000275815) - p.Q679H (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2116616616 | 681 | S>C | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.655) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000007.14:g.143395361T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395361T>A Locations: - p.Ser681Cys (Ensembl:ENST00000275815) - c.2041A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51975331 | 682 | H>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000007.14:g.143395358G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395358G>T Locations: - c.2044C>A (NCI-TCGA:ENST00000275815) - p.H682N (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs140700329 | 683 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.813) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143395354G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395354G>A Locations: - p.Pro683Leu (Ensembl:ENST00000275815) - c.2048C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs200904525 | 683 | P>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.634) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143395355G>T Codon: CCG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395355G>T Locations: - p.Pro683Thr (Ensembl:ENST00000275815) - c.2047C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs774757061 | 684 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.661) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395351T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395351T>C Locations: - p.His684Arg (Ensembl:ENST00000275815) - c.2051A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1213712645 | 685 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143395349T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395349T>C Locations: - p.Ile685Val (Ensembl:ENST00000275815) - c.2053A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs371479433 | 687 | H>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395342T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395342T>A Locations: - p.His687Leu (Ensembl:ENST00000275815) - c.2060A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs371479433 | 687 | H>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395342T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395342T>G Locations: - p.His687Pro (Ensembl:ENST00000275815) - c.2060A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs371479433 | 687 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143395342T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395342T>C Locations: - p.His687Arg (Ensembl:ENST00000275815) - c.2060A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805214243 | 687 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.636) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395343G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395343G>A Locations: - p.His687Tyr (Ensembl:ENST00000275815) - c.2059C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1343356019 | 688 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395340G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395340G>C Locations: - p.Leu688Val (Ensembl:ENST00000275815) - c.2062C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99313983 | 689 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143395337C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395337C>T Locations: - c.2065G>A (NCI-TCGA:ENST00000275815) - p.E689K (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
RCV000895356 rs145160235 | 691 | V>I | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143395331C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395331C>T Locations: - p.Val691Ile (Ensembl:ENST00000275815) - c.2071G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs758249861 | 692 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143395328C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395328C>T Locations: - p.Val692Ile (Ensembl:ENST00000275815) - c.2074G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51968711 rs747914291 | 695 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000007954 (gnomAD) Accession: NC_000007.14:g.143395319G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395319G>A Locations: - p.R695* (NCI-TCGA:ENST00000275815) - p.Arg695Ter (Ensembl:ENST00000275815) - c.2083C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51970001 | 695 | R>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: - Somatic: Yes Accession: NC_000007.14:g.143395181T>A Consequence type: - Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395181T>A Locations: - c.2085A>T (NCI-TCGA:ENST00000275815) - p.R695= (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805209495 | 697 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143395177G>C Codon: CCG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395177G>C Locations: - p.Pro697Ala (Ensembl:ENST00000275815) - c.2089C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
VAR_042118 rs34372369 | 697 | P>L | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000007.14:g.143395176G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395176G>A Locations: - p.Pro697Leu (UniProt:P21709) Source type: mixed Cross-references: | |||||||
rs752053540 | 699 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395170A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395170A>G Locations: - p.Met699Thr (Ensembl:ENST00000275815) - c.2096T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1364115555 | 701 | I>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395165T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395165T>A Locations: - p.Ile701Phe (Ensembl:ENST00000275815) - c.2101A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1336934305 | 703 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143395157T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395157T>G Locations: - p.Glu703Asp (Ensembl:ENST00000275815) - c.2109A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs764574963 | 703 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395158T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395158T>C Locations: - p.Glu703Gly (Ensembl:ENST00000275815) - c.2108A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
VAR_042119 COSV51972727 | 703 | E>K | a breast pleomorphic lobular carcinoma sample; somatic mutation (UniProt) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (UniProt) | UniProt NCI-TCGA Cosmic | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.875) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143395159C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395159C>T Locations: - c.2107G>A (NCI-TCGA:ENST00000275815) - p.E703K (NCI-TCGA:ENST00000275815) - p.Glu703Lys (UniProt:P21709) Source type: mixed Cross-references: | |||||||
rs763368841 | 705 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395152A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395152A>G Locations: - p.Met705Thr (Ensembl:ENST00000275815) - c.2114T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1445606633 | 705 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143395153T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395153T>C Locations: - p.Met705Val (Ensembl:ENST00000275815) - c.2113A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs375566010 | 706 | E>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143395148C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395148C>A Locations: - p.Glu706Asp (Ensembl:ENST00000275815) - c.2118G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805208756 | 706 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143395149T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395149T>A Locations: - p.Glu706Val (Ensembl:ENST00000275815) - c.2117A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 707 | N>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395146T>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395146T>A Locations: - c.2120A>T (NCI-TCGA:ENST00000275815) - p.N707I (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99314502 | 708 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143395144C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395144C>T Locations: - c.2122G>A (NCI-TCGA:ENST00000275815) - p.G708R (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51974521 | 710 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143395137A>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395137A>G Locations: - c.2129T>C (NCI-TCGA:ENST00000275815) - p.L710P (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 711 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395135C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395135C>T Locations: - c.2131G>A (NCI-TCGA:ENST00000275815) - p.D711N (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 713 | F>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395128A>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395128A>G Locations: - c.2138T>C (NCI-TCGA:ENST00000275815) - p.F713S (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1294092057 | 715 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395123T>A Codon: AGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395123T>A Locations: - p.Arg715Trp (Ensembl:ENST00000275815) - c.2143A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs147817243 | 716 | E>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: tolerated (0.42) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.143395014C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395014C>T Locations: - p.Glu716Lys (Ensembl:ENST00000275815) - c.2146G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1222747501 | 717 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.144) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143395011G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395011G>C Locations: - p.Arg717Gly (Ensembl:ENST00000275815) - c.2149C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs144535927 | 717 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143395010C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395010C>A Locations: - p.Arg717Leu (Ensembl:ENST00000275815) - c.2150G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs144535927 | 717 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143395010C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395010C>T Locations: - p.Arg717Gln (Ensembl:ENST00000275815) - c.2150G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1222747501 | 717 | R>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395011G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395011G>A Locations: - p.Arg717Trp (Ensembl:ENST00000275815) - c.2149C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs758879954 | 718 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.872) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143395006C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395006C>A Locations: - p.Glu718Asp (Ensembl:ENST00000275815) - c.2154G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1362250559 | 718 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.875) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395008C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395008C>T Locations: - p.Glu718Lys (Ensembl:ENST00000275815) - c.2152G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116615669 | 719 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.393) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143395005C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395005C>T Locations: - p.Asp719Asn (Ensembl:ENST00000275815) - c.2155G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs548151465 | 720 | Q>* | 1000Genomes ExAC | ||||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143395002G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143395002G>A Locations: - p.Gln720Ter (Ensembl:ENST00000275815) - c.2158C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs149121680 | 724 | G>E | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143394989C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394989C>T Locations: - p.Gly724Glu (Ensembl:ENST00000275815) - c.2171G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs760710752 | 725 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394985C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394985C>G Locations: - p.Gln725His (Ensembl:ENST00000275815) - c.2175G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1204021687 | 725 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.354) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394986T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394986T>C Locations: - p.Gln725Arg (Ensembl:ENST00000275815) - c.2174A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs774312704 | 727 | V>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394980A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394980A>T Locations: - p.Val727Glu (Ensembl:ENST00000275815) - c.2180T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs768560146 | 729 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143394973C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394973C>T Locations: - p.Met729Ile (Ensembl:ENST00000275815) - c.2187G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1177683199 | 729 | M>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394974A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394974A>C Locations: - p.Met729Arg (Ensembl:ENST00000275815) - c.2186T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1283061958 | 731 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143394969G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394969G>T Locations: - p.Gln731Lys (Ensembl:ENST00000275815) - c.2191C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs775145198 | 733 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394961T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394961T>C Locations: - p.Ile733Met (Ensembl:ENST00000275815) - c.2199A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805203620 | 733 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394962A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394962A>G Locations: - p.Ile733Thr (Ensembl:ENST00000275815) - c.2198T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805203677 | 733 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143394963T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394963T>C Locations: - p.Ile733Val (Ensembl:ENST00000275815) - c.2197A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1367983073 | 734 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394960C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394960C>T Locations: - p.Ala734Thr (Ensembl:ENST00000275815) - c.2200G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs553708553 | 737 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394949C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394949C>T Locations: - p.Met737Ile (Ensembl:ENST00000275815) - c.2211G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs915206166 | 739 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143394943G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394943G>T Locations: - p.Tyr739Ter (Ensembl:ENST00000275815) - c.2217C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805203133 | 739 | Y>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.605) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394944T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394944T>A Locations: - p.Tyr739Phe (Ensembl:ENST00000275815) - c.2216A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1563115168 | 739 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.372) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143394945A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394945A>G Locations: - p.Tyr739His (Ensembl:ENST00000275815) - c.2215T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs964365496 | 741 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143394938C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394938C>T Locations: - p.Ser741Asn (Ensembl:ENST00000275815) - c.2222G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51972514 | 741 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143394939T>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394939T>G Locations: - c.2221A>C (NCI-TCGA:ENST00000275815) - p.S741R (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805202930 | 742 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143394935T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394935T>C Locations: - p.Asn742Ser (Ensembl:ENST00000275815) - c.2225A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1160462380 | 743 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143394933G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394933G>A Locations: - p.His743Tyr (Ensembl:ENST00000275815) - c.2227C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1454514009 | 744 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143394930T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394930T>C Locations: - p.Asn744Asp (Ensembl:ENST00000275815) - c.2230A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1428259311 | 744 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000007.14:g.143394929T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394929T>C Locations: - p.Asn744Ser (Ensembl:ENST00000275815) - c.2231A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805202609 | 747 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394921G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394921G>A Locations: - p.His747Tyr (Ensembl:ENST00000275815) - c.2239C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs145070507 | 748 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394918G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394918G>C Locations: - p.Arg748Gly (Ensembl:ENST00000275815) - c.2242C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs376954641 | 748 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394917C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394917C>T Locations: - p.Arg748Gln (Ensembl:ENST00000275815) - c.2243G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs145070507 | 748 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394918G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394918G>A Locations: - p.Arg748Trp (Ensembl:ENST00000275815) - c.2242C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs778478420 | 749 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394915C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394915C>G Locations: - p.Asp749His (Ensembl:ENST00000275815) - c.2245G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs758966764 | 749 | D>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394914T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394914T>A Locations: - p.Asp749Val (Ensembl:ENST00000275815) - c.2246A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1205296887 | 751 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394909C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394909C>T Locations: - p.Ala751Thr (Ensembl:ENST00000275815) - c.2251G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1307412502 | 757 | V>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394890A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394890A>T Locations: - p.Val757Glu (Ensembl:ENST00000275815) - c.2270T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1347822108 | 757 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394891C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394891C>T Locations: - p.Val757Met (Ensembl:ENST00000275815) - c.2269G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116615370 | 758 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143394887T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394887T>G Locations: - p.Asn758Thr (Ensembl:ENST00000275815) - c.2273A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805201406 | 759 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143394885G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394885G>A Locations: - p.Gln759Ter (Ensembl:ENST00000275815) - c.2275C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314391 | 759 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000007.14:g.143394885G>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394885G>C Locations: - c.2275C>G (NCI-TCGA:ENST00000275815) - p.Q759E (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805201342 | 760 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143394880G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394880G>T Locations: - p.Asn760Lys (Ensembl:ENST00000275815) - c.2280C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805201208 | 761 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394878A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394878A>T Locations: - p.Leu761Gln (Ensembl:ENST00000275815) - c.2282T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805201071 | 763 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394873A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394873A>G Locations: - p.Cys763Arg (Ensembl:ENST00000275815) - c.2287T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1758168775 | 763 | C>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394871G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394871G>C Locations: - p.Cys763Trp (Ensembl:ENST00000275815) - c.2289C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs756235783 | 763 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394872C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394872C>T Locations: - p.Cys763Tyr (Ensembl:ENST00000275815) - c.2288G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs750490381 | 764 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394870T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394870T>C Locations: - p.Lys764Glu (Ensembl:ENST00000275815) - c.2290A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs73726637 | 764 | K>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00117739 (1000Genomes) Accession: NC_000007.14:g.143394869T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394869T>A Locations: - p.Lys764Met (Ensembl:ENST00000275815) - c.2291A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs73726637 | 764 | K>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00117739 (1000Genomes) Accession: NC_000007.14:g.143394869T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394869T>G Locations: - p.Lys764Thr (Ensembl:ENST00000275815) - c.2291A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1470816324 | 765 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394867C>G, NC_000007.14:g.143394867C>A Codon: GTG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394867C>G, NC_000007.14:g.143394867C>A Locations: - p.Val765Leu (Ensembl:ENST00000275815) - c.2293G>C (Ensembl:ENST00000275815) - c.2293G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1425649832 | 766 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143394864A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394864A>T Locations: - p.Ser766Thr (Ensembl:ENST00000275815) - c.2296T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs775447726 | 767 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394860T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394860T>C Locations: - p.Asp767Gly (Ensembl:ENST00000275815) - c.2300A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1167212623 | 767 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394861C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394861C>T Locations: - p.Asp767Asn (Ensembl:ENST00000275815) - c.2299G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs764971738 | 768 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394857A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394857A>G Locations: - p.Phe768Ser (Ensembl:ENST00000275815) - c.2303T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs146094673 | 771 | T>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143394848G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394848G>C Locations: - p.Thr771Ser (Ensembl:ENST00000275815) - c.2312C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1197422509 | 772 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394846G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394846G>A Locations: - p.Arg772Cys (Ensembl:ENST00000275815) - c.2314C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1197422509 | 772 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143394846G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394846G>C Locations: - p.Arg772Gly (Ensembl:ENST00000275815) - c.2314C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs550789024 | 772 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.143394845C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394845C>T Locations: - p.Arg772His (Ensembl:ENST00000275815) - c.2315G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1012896062 | 773 | L>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.858) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394842A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394842A>T Locations: - p.Leu773His (Ensembl:ENST00000275815) - c.2318T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs144262121 | 775 | D>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.247) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394836T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394836T>C Locations: - p.Asp775Gly (Ensembl:ENST00000275815) - c.2324A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs771554580 | 777 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.371) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143394830A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394830A>C Locations: - p.Phe777Cys (Ensembl:ENST00000275815) - c.2330T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs771554580 | 777 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000007.14:g.143394830A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394830A>G Locations: - p.Phe777Ser (Ensembl:ENST00000275815) - c.2330T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs757458618 | 778 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143394826A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394826A>C Locations: - p.Asp778Glu (Ensembl:ENST00000275815) - c.2334T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs748628634 | 778 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394828C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394828C>A Locations: - p.Asp778Tyr (Ensembl:ENST00000275815) - c.2332G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs749718342 | 779 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394824C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394824C>T Locations: - p.Gly779Asp (Ensembl:ENST00000275815) - c.2336G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs373447921 | 779 | G>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394825C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394825C>T Locations: - p.Gly779Ser (Ensembl:ENST00000275815) - c.2335G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs749718342 | 779 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394824C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394824C>A Locations: - p.Gly779Val (Ensembl:ENST00000275815) - c.2336G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs755342811 | 781 | Y>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143394817G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394817G>C Locations: - p.Tyr781Ter (Ensembl:ENST00000275815) - c.2343C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1382179005 | 781 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394819A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394819A>G Locations: - p.Tyr781His (Ensembl:ENST00000275815) - c.2341T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1382179005 | 781 | Y>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394819A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394819A>T Locations: - p.Tyr781Asn (Ensembl:ENST00000275815) - c.2341T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51969779 rs1454804041 | 782 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143394816C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394816C>T Locations: - p.E782K (NCI-TCGA:ENST00000275815) - p.Glu782Lys (Ensembl:ENST00000275815) - c.2344G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs549847780 | 785 | G>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143394343C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394343C>A Locations: - p.Gly785Ter (Ensembl:ENST00000275815) - c.2353G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1490332858 | 786 | G>A | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394339C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394339C>G Locations: - p.Gly786Ala (Ensembl:ENST00000275815) - c.2357G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs754947166 | 787 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394336T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394336T>C Locations: - p.Lys787Arg (Ensembl:ENST00000275815) - c.2360A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805180693 | 789 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394330G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394330G>A Locations: - p.Pro789Leu (Ensembl:ENST00000275815) - c.2366C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs753768975 | 790 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394327A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394327A>G Locations: - p.Ile790Thr (Ensembl:ENST00000275815) - c.2369T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs766301333 | 791 | R>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394325G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394325G>A Locations: - p.Arg791Cys (Ensembl:ENST00000275815) - c.2371C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs139711610 | 791 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394324C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394324C>T Locations: - p.Arg791His (Ensembl:ENST00000275815) - c.2372G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs139711610 | 791 | R>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394324C>G Codon: CGT/CCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394324C>G Locations: - p.Arg791Pro (Ensembl:ENST00000275815) - c.2372G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51970419 | 791 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143394325G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394325G>T Locations: - c.2371C>A (NCI-TCGA:ENST00000275815) - p.R791S (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116614034 | 792 | W>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394320C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394320C>A Locations: - p.Trp792Cys (Ensembl:ENST00000275815) - c.2376G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805179812 | 793 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394319T>G Codon: ACA/CCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394319T>G Locations: - p.Thr793Pro (Ensembl:ENST00000275815) - c.2377A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805179502 | 794 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394315G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394315G>C Locations: - p.Ala794Gly (Ensembl:ENST00000275815) - c.2381C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805179605 | 794 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394316C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394316C>A Locations: - p.Ala794Ser (Ensembl:ENST00000275815) - c.2380G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805179290 | 795 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394313G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394313G>A Locations: - p.Pro795Ser (Ensembl:ENST00000275815) - c.2383C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51971779 | 796 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143394310C>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394310C>G Locations: - c.2386G>C (NCI-TCGA:ENST00000275815) - p.E796Q (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99313599 | 797 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143394307C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394307C>T Locations: - c.2389G>A (NCI-TCGA:ENST00000275815) - p.A797T (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805179198 | 797 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394306G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394306G>A Locations: - p.Ala797Val (Ensembl:ENST00000275815) - c.2390C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs767987164 | 798 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394304T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394304T>C Locations: - p.Ile798Val (Ensembl:ENST00000275815) - c.2392A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805178890 | 800 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.204) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394297T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394297T>C Locations: - p.His800Arg (Ensembl:ENST00000275815) - c.2399A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs775933608 | 801 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394295G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394295G>C Locations: - p.Arg801Gly (Ensembl:ENST00000275815) - c.2401C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs770181636 | 801 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143394294C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394294C>T Locations: - p.Arg801Gln (Ensembl:ENST00000275815) - c.2402G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs775933608 | 801 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002784 (gnomAD) Accession: NC_000007.14:g.143394295G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394295G>A Locations: - p.R801W (NCI-TCGA:ENST00000275815) - p.Arg801Trp (Ensembl:ENST00000275815) - c.2401C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1156441347 | 803 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394288A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394288A>C Locations: - p.Phe803Cys (Ensembl:ENST00000275815) - c.2408T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs991771396 | 804 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.442) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143394286T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394286T>C Locations: - p.Thr804Ala (Ensembl:ENST00000275815) - c.2410A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805177911 | 805 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.635) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394282G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394282G>A Locations: - p.Thr805Ile (Ensembl:ENST00000275815) - c.2414C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs781323096 | 806 | A>V | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394279G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394279G>A Locations: - p.Ala806Val (Ensembl:ENST00000275815) - c.2417C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs771180177 | 807 | S>C | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394277T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394277T>A Locations: - p.Ser807Cys (Ensembl:ENST00000275815) - c.2419A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51977341 | 807 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143394277T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394277T>C Locations: - c.2419A>G (NCI-TCGA:ENST00000275815) - p.S807G (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
VAR_042120 rs56244405 | 807 | S>R | UniProt TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000007.14:g.143394275G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394275G>T Locations: - p.Ser807Arg (UniProt:P21709) Source type: mixed | |||||||
COSV51970251 rs747132712 | 808 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000007.14:g.143394274C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394274C>T Locations: - p.D808N (NCI-TCGA:ENST00000275815) - p.Asp808Asn (Ensembl:ENST00000275815) - c.2422G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805177081 | 809 | V>M | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394271C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394271C>T Locations: - p.Val809Met (Ensembl:ENST00000275815) - c.2425G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1193453669 | 810 | W>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143394266C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394266C>T Locations: - p.Trp810Ter (Ensembl:ENST00000275815) - c.2430G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs372075941 | 810 | W>* | ESP ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143394267C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394267C>T Locations: - p.Trp810Ter (Ensembl:ENST00000275815) - c.2429G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV99313943 | 810 | W>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143394267C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394267C>A Locations: - c.2429G>T (NCI-TCGA:ENST00000275815) - p.W810L (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1488827817 | 813 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394259C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394259C>T Locations: - p.Gly813Arg (Ensembl:ENST00000275815) - c.2437G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805176623 | 814 | I>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.612) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394256T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394256T>A Locations: - p.Ile814Phe (Ensembl:ENST00000275815) - c.2440A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs758500982 | 816 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143394248C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394248C>T Locations: - p.Met816Ile (Ensembl:ENST00000275815) - c.2448G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs753859464 | 817 | W>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143394246C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394246C>T Locations: - p.Trp817Ter (Ensembl:ENST00000275815) - c.2450G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 818 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394242C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394242C>A Locations: - c.2454G>T (NCI-TCGA:ENST00000275815) - p.E818D (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 818 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394244C>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394244C>G Locations: - c.2452G>C (NCI-TCGA:ENST00000275815) - p.E818Q (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1586578240 | 819 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394240A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394240A>C Locations: - p.Val819Gly (Ensembl:ENST00000275815) - c.2456T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs780109666 | 819 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394241C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394241C>T Locations: - p.Val819Met (Ensembl:ENST00000275815) - c.2455G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1209190903 | 820 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394237A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394237A>G Locations: - p.Leu820Pro (Ensembl:ENST00000275815) - c.2459T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805175758 | 821 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143394235T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394235T>C Locations: - p.Ser821Gly (Ensembl:ENST00000275815) - c.2461A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs750219974 | 823 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394229C>T, NC_000007.14:g.143394229C>G Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394229C>T, NC_000007.14:g.143394229C>G Locations: - p.Gly823Arg (Ensembl:ENST00000275815) - c.2467G>A (Ensembl:ENST00000275815) - c.2467G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1186505049 | 824 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143394224G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394224G>C Locations: - p.Asp824Glu (Ensembl:ENST00000275815) - c.2472C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs761535126 | 826 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394219G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394219G>A Locations: - p.Pro826Leu (Ensembl:ENST00000275815) - c.2477C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs767146354 | 826 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394220G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394220G>A Locations: - p.Pro826Ser (Ensembl:ENST00000275815) - c.2476C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs767146354 | 826 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394220G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394220G>T Locations: - p.Pro826Thr (Ensembl:ENST00000275815) - c.2476C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs190709674 | 828 | G>V | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143394213C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394213C>A Locations: - p.Gly828Val (Ensembl:ENST00000275815) - c.2483G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1426261434 | 828 | G>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143394214C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394214C>A Locations: - p.Gly828Trp (Ensembl:ENST00000275815) - c.2482G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs763688617 | 830 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394206C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394206C>T Locations: - p.Met830Ile (Ensembl:ENST00000275815) - c.2490G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1164168455 | 830 | M>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394207A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394207A>C Locations: - p.Met830Arg (Ensembl:ENST00000275815) - c.2489T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1164168455 | 830 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394207A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394207A>G Locations: - p.Met830Thr (Ensembl:ENST00000275815) - c.2489T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1175311514 | 831 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143394204C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394204C>T Locations: - p.Ser831Asn (Ensembl:ENST00000275815) - c.2492G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1388224522 | 832 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143394201T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394201T>C Locations: - p.Asn832Ser (Ensembl:ENST00000275815) - c.2495A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1563114662 | 833 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143394199G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394199G>A Locations: - p.Gln833Ter (Ensembl:ENST00000275815) - c.2497C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805173824 | 834 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143394196C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143394196C>T Locations: - p.Glu834Lys (Ensembl:ENST00000275815) - c.2500G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805163746 | 836 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393860A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393860A>G Locations: - p.Met836Thr (Ensembl:ENST00000275815) - c.2507T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99313574 | 837 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.349) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000007.14:g.143393856C>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393856C>G Locations: - c.2511G>C (NCI-TCGA:ENST00000275815) - p.K837N (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1008251277 | 838 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393855T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393855T>C Locations: - p.Ser838Gly (Ensembl:ENST00000275815) - c.2512A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1008251277 | 838 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393855T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393855T>G Locations: - p.Ser838Arg (Ensembl:ENST00000275815) - c.2512A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1362271571 | 839 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393851A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393851A>G Locations: - p.Ile839Thr (Ensembl:ENST00000275815) - c.2516T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51968149 | 840 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000007.14:g.143393849C>A Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393849C>A Locations: - c.2518G>T (NCI-TCGA:ENST00000275815) - p.E840* (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1390900021 | 840 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143393849C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393849C>T Locations: - p.Glu840Lys (Ensembl:ENST00000275815) - c.2518G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs951430650 | 841 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.764) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393846C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393846C>T Locations: - p.Asp841Asn (Ensembl:ENST00000275815) - c.2521G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs764660537 | 842 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000007.14:g.143393842C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393842C>G Locations: - p.Gly842Ala (Ensembl:ENST00000275815) - c.2525G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs764660537 | 842 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393842C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393842C>T Locations: - p.Gly842Glu (Ensembl:ENST00000275815) - c.2525G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51975121 rs766796352 | 844 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00006656 (gnomAD) Accession: NC_000007.14:g.143393836C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393836C>T Locations: - p.R844Q (NCI-TCGA:ENST00000275815) - p.Arg844Gln (Ensembl:ENST00000275815) - c.2531G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51975463 rs753822753 | 844 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00003996 (gnomAD) Accession: NC_000007.14:g.143393837G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393837G>A Locations: - p.R844W (NCI-TCGA:ENST00000275815) - p.Arg844Trp (Ensembl:ENST00000275815) - c.2530C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1213536991 | 846 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393830G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393830G>A Locations: - p.Pro846Leu (Ensembl:ENST00000275815) - c.2537C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs555934791 | 847 | P>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143393827G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393827G>C Locations: - p.Pro847Arg (Ensembl:ENST00000275815) - c.2540C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51975199 | 847 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000007.14:g.143393828G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393828G>A Locations: - c.2539C>T (NCI-TCGA:ENST00000275815) - p.P847S (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs772410524 | 849 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143393822C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393822C>T Locations: - p.Val849Met (Ensembl:ENST00000275815) - c.2545G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805162328 | 852 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393813G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393813G>C Locations: - p.Pro852Ala (Ensembl:ENST00000275815) - c.2554C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs748306167 | 853 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.143393810C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393810C>T Locations: - p.Ala853Thr (Ensembl:ENST00000275815) - c.2557G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs768802916 | 854 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143393806G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393806G>A Locations: - p.Pro854Leu (Ensembl:ENST00000275815) - c.2561C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs774581597 | 854 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143393807G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393807G>A Locations: - p.Pro854Ser (Ensembl:ENST00000275815) - c.2560C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116612768 | 856 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143393801A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393801A>G Locations: - p.Tyr856His (Ensembl:ENST00000275815) - c.2566T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1433805900 | 859 | M>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393791A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393791A>C Locations: - p.Met859Arg (Ensembl:ENST00000275815) - c.2576T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1433805900 | 859 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393791A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393791A>G Locations: - p.Met859Thr (Ensembl:ENST00000275815) - c.2576T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1270475638 | 860 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143393787C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393787C>A Locations: - p.Lys860Asn (Ensembl:ENST00000275815) - c.2580G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs780958221 | 861 | N>K | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143393784G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393784G>C Locations: - p.Asn861Lys (Ensembl:ENST00000275815) - c.2583C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51974550 | 864 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000007.14:g.143393776G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393776G>A Locations: - c.2591C>T (NCI-TCGA:ENST00000275815) - p.A864V (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805161267 | 865 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143393772A>T, NC_000007.14:g.143393772A>C Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393772A>T, NC_000007.14:g.143393772A>C Locations: - p.Tyr865Ter (Ensembl:ENST00000275815) - c.2595T>A (Ensembl:ENST00000275815) - c.2595T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1586577733 | 866 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.289) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393770T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393770T>G Locations: - p.Asp866Ala (Ensembl:ENST00000275815) - c.2597A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99314972 | 866 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.426) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000007.14:g.143393770T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393770T>C Locations: - c.2597A>G (NCI-TCGA:ENST00000275815) - p.D866G (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs199929557 | 867 | R>C | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.173) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143393768G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393768G>A Locations: - p.Arg867Cys (Ensembl:ENST00000275815) - c.2599C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs766464624 | 867 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.686) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143393767C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393767C>T Locations: - p.Arg867His (Ensembl:ENST00000275815) - c.2600G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs766464624 | 867 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393767C>G Codon: CGT/CCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393767C>G Locations: - p.Arg867Pro (Ensembl:ENST00000275815) - c.2600G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1371180068 | 868 | A>D | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143393764G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393764G>T Locations: - p.Ala868Asp (Ensembl:ENST00000275815) - c.2603C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1371180068 | 868 | A>G | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143393764G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393764G>C Locations: - p.Ala868Gly (Ensembl:ENST00000275815) - c.2603C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs758050233 | 869 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143393762G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393762G>A Locations: - p.Arg869Cys (Ensembl:ENST00000275815) - c.2605C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1055875730 | 869 | R>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143393761C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393761C>T Locations: - p.Arg869His (Ensembl:ENST00000275815) - c.2606G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs146374704 | 870 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393758C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393758C>A Locations: - p.Arg870Leu (Ensembl:ENST00000275815) - c.2609G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs146374704 | 870 | R>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393758C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393758C>G Locations: - p.Arg870Pro (Ensembl:ENST00000275815) - c.2609G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs146374704 | 870 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393758C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393758C>T Locations: - p.Arg870Gln (Ensembl:ENST00000275815) - c.2609G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs374097841 | 870 | R>W | Variant of uncertain significance (Ensembl) | ESP TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393759G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393759G>A Locations: - p.Arg870Trp (Ensembl:ENST00000275815) - c.2608C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs56124846 | 872 | H>Q | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.143393751G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393751G>C Locations: - p.His872Gln (Ensembl:ENST00000275815) - c.2616C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1418235400 | 873 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393750A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393750A>G Locations: - p.Phe873Leu (Ensembl:ENST00000275815) - c.2617T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1248159907 | 874 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000007.14:g.143393746T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393746T>C Locations: - p.Gln874Arg (Ensembl:ENST00000275815) - c.2621A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1207144543 | 875 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000007.14:g.143393744T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393744T>C Locations: - p.Lys875Glu (Ensembl:ENST00000275815) - c.2623A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1483335998 | 876 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393741G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393741G>A Locations: - p.Leu876Phe (Ensembl:ENST00000275815) - c.2626C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1483335998 | 876 | L>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143393741G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393741G>T Locations: - p.Leu876Ile (Ensembl:ENST00000275815) - c.2626C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs754403787 | 878 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393734G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393734G>T Locations: - p.Ala878Glu (Ensembl:ENST00000275815) - c.2633C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805159716 | 878 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143393735C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393735C>T Locations: - p.Ala878Thr (Ensembl:ENST00000275815) - c.2632G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs754411170 | 882 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143393723G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393723G>A Locations: - p.Gln882Ter (Ensembl:ENST00000275815) - c.2644C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs891269774 | 884 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393717G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393717G>A Locations: - p.Leu884Phe (Ensembl:ENST00000275815) - c.2650C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs891269774 | 884 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.83) Somatic: No Accession: NC_000007.14:g.143393717G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393717G>T Locations: - p.Leu884Ile (Ensembl:ENST00000275815) - c.2650C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51969801 | 885 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.143393713G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393713G>A Locations: - c.2654C>T (NCI-TCGA:ENST00000275815) - p.A885V (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs537988053 | 888 | H>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000007.14:g.143393705G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393705G>C Locations: - p.His888Asp (Ensembl:ENST00000275815) - c.2662C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99313528 | 888 | H>T | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: frameshift Somatic: Yes Accession: NC_000007.14:g.143393705_143393706insT Consequence type: frameshift Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393705_143393706insT Locations: - c.2661_2662insA (NCI-TCGA:ENST00000275815) - p.H888Tfs*10 (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs537988053 | 888 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143393705G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393705G>A Locations: - p.His888Tyr (Ensembl:ENST00000275815) - c.2662C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs761160914 | 889 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143393701G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393701G>A Locations: - p.Ser889Phe (Ensembl:ENST00000275815) - c.2666C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs372390038 | 889 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143393702A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393702A>G Locations: - p.Ser889Pro (Ensembl:ENST00000275815) - c.2665T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs370603321 | 890 | L>P | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393698A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393698A>G Locations: - p.Leu890Pro (Ensembl:ENST00000275815) - c.2669T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs762143229 | 891 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393695C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393695C>T Locations: - p.Arg891Gln (Ensembl:ENST00000275815) - c.2672G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs767930814 | 891 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0001315 (gnomAD) Accession: NC_000007.14:g.143393696G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393696G>A Locations: - p.R891W (NCI-TCGA:ENST00000275815) - p.Arg891Trp (Ensembl:ENST00000275815) - c.2671C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs148388192 | 892 | T>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143393692G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393692G>A Locations: - p.Thr892Ile (Ensembl:ENST00000275815) - c.2675C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs138978752 | 893 | I>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143393689A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393689A>G Locations: - p.Ile893Thr (Ensembl:ENST00000275815) - c.2678T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1164006815 | 893 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000007.14:g.143393690T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393690T>C Locations: - p.Ile893Val (Ensembl:ENST00000275815) - c.2677A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1362341860 | 894 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143393687C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393687C>A Locations: - p.Ala894Ser (Ensembl:ENST00000275815) - c.2680G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1362341860 | 894 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393687C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393687C>T Locations: - p.Ala894Thr (Ensembl:ENST00000275815) - c.2680G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs776685006 | 895 | N>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.517) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143393684T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393684T>G Locations: - p.Asn895His (Ensembl:ENST00000275815) - c.2683A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs770766668 | 896 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143393679A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393679A>C Locations: - p.Phe896Leu (Ensembl:ENST00000275815) - c.2688T>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1472820846 | 896 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143393681A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393681A>C Locations: - p.Phe896Val (Ensembl:ENST00000275815) - c.2686T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1586577581 | 896 | F>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393680A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393680A>T Locations: - p.Phe896Tyr (Ensembl:ENST00000275815) - c.2687T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs746892705 | 897 | D>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393678C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393678C>A Locations: - p.Asp897Tyr (Ensembl:ENST00000275815) - c.2689G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs777558068 | 898 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143393674G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393674G>T Locations: - p.Pro898His (Ensembl:ENST00000275815) - c.2693C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1248591499 | 898 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143393675G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393675G>A Locations: - p.Pro898Ser (Ensembl:ENST00000275815) - c.2692C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1764865478 | 899 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143393672T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143393672T>C Locations: - p.Arg899Gly (Ensembl:ENST00000275815) - c.2695A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs778597320 | 899 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.749) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143391775C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391775C>A Locations: - p.Arg899Ser (Ensembl:ENST00000275815) - c.2697G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1405011301 | 900 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143391772C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391772C>T Locations: - p.Met900Ile (Ensembl:ENST00000275815) - c.2700G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs6967117 | 900 | M>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.0400314 (1000Genomes) Accession: NC_000007.14:g.143391774T>G, NC_000007.14:g.143391774T>A Codon: ATG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391774T>G, NC_000007.14:g.143391774T>A Locations: - p.Met900Leu (Ensembl:ENST00000275815) - c.2698A>C (Ensembl:ENST00000275815) - c.2698A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
VAR_028267 rs6967117 | 900 | M>V | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0400314 (1000Genomes) Accession: NC_000007.14:g.143391774T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391774T>C Locations: - p.Met900Val (UniProt:P21709) Source type: mixed Cross-references: | |||||||
rs1586575815 | 901 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143391771T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391771T>G Locations: - p.Thr901Pro (Ensembl:ENST00000275815) - c.2701A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 902 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.95) Somatic: No Accession: NC_000007.14:g.143391768G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391768G>T Locations: - c.2704C>A (NCI-TCGA:ENST00000275815) - p.L902I (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs748905712 | 903 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391765G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391765G>A Locations: - p.Arg903Cys (Ensembl:ENST00000275815) - c.2707C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs200265062 | 903 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143391764C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391764C>T Locations: - p.Arg903His (Ensembl:ENST00000275815) - c.2708G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs748905712 | 903 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391765G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391765G>T Locations: - p.Arg903Ser (Ensembl:ENST00000275815) - c.2707C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1167311375 | 906 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391754G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391754G>T Locations: - p.Ser906Arg (Ensembl:ENST00000275815) - c.2718C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1425745397 | 906 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391755C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391755C>G Locations: - p.Ser906Thr (Ensembl:ENST00000275815) - c.2717G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805094085 | 907 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143391752A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391752A>G Locations: - p.Leu907Pro (Ensembl:ENST00000275815) - c.2720T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1474111055 | 908 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143391750T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391750T>C Locations: - p.Ser908Gly (Ensembl:ENST00000275815) - c.2722A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1391513028 | 908 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143391749C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391749C>T Locations: - p.Ser908Asn (Ensembl:ENST00000275815) - c.2723G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 909 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143391746C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391746C>T Locations: - c.2726G>A (NCI-TCGA:ENST00000275815) - p.G909D (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1188722292 | 912 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391738C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391738C>T Locations: - p.Gly912Arg (Ensembl:ENST00000275815) - c.2734G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs755605986 | 913 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000007.14:g.143391735T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391735T>C Locations: - p.Ile913Val (Ensembl:ENST00000275815) - c.2737A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51974221 rs751001344 | 914 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.575) - SIFT: tolerated (0.05) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00002391 (gnomAD) Accession: NC_000007.14:g.143391731G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391731G>A Locations: - p.P914L (NCI-TCGA:ENST00000275815) - p.Pro914Leu (Ensembl:ENST00000275815) - c.2741C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs751001344 | 914 | P>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391731G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391731G>C Locations: - p.Pro914Arg (Ensembl:ENST00000275815) - c.2741C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805093585 | 914 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143391732G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391732G>A Locations: - p.Pro914Ser (Ensembl:ENST00000275815) - c.2740C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs541812228 | 916 | R>* | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143391726G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391726G>A Locations: - p.Arg916Ter (Ensembl:ENST00000275815) - c.2746C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs541812228 | 916 | R>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143391726G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391726G>C Locations: - p.Arg916Gly (Ensembl:ENST00000275815) - c.2746C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs919532275 | 916 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143391725C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391725C>T Locations: - p.Arg916Gln (Ensembl:ENST00000275815) - c.2747G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99313474 | 917 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143391723T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391723T>C Locations: - c.2749A>G (NCI-TCGA:ENST00000275815) - p.T917A (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 918 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.371) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143391719A>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391719A>G Locations: - c.2753T>C (NCI-TCGA:ENST00000275815) - p.V918A (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV51969852 COSV99314669 rs530042951 | 918 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.12) - PolyPhen: benign (0.118) - SIFT: tolerated (0.14) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000007.14:g.143391720C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391720C>T Locations: - p.V918I (NCI-TCGA:ENST00000275815) - p.Val918Ile (Ensembl:ENST00000275815) - c.2752G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs759578750 | 920 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143391712C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391712C>G Locations: - p.Glu920Asp (Ensembl:ENST00000275815) - c.2760G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs146963652 | 920 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000007963 (gnomAD) Accession: NC_000007.14:g.143391714C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391714C>T Locations: - p.E920K (NCI-TCGA:ENST00000275815) - p.Glu920Lys (Ensembl:ENST00000275815) - c.2758G>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs773180572 | 921 | W>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391709C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391709C>A Locations: - p.Trp921Cys (Ensembl:ENST00000275815) - c.2763G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1554446949 | 923 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.698) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391704T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391704T>G Locations: - p.Glu923Ala (Ensembl:ENST00000275815) - c.2768A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1554446949 | 923 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143391704T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391704T>C Locations: - p.Glu923Gly (Ensembl:ENST00000275815) - c.2768A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs141196081 | 923 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.698) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143391705C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391705C>T Locations: - p.Glu923Lys (Ensembl:ENST00000275815) - c.2767G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs141196081 | 923 | E>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143391705C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391705C>G Locations: - p.Glu923Gln (Ensembl:ENST00000275815) - c.2767G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs748919069 | 924 | S>A | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.143391702A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391702A>C Locations: - p.Ser924Ala (Ensembl:ENST00000275815) - c.2770T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs2116607287 | 925 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143391697T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391697T>C Locations: - p.Ile925Met (Ensembl:ENST00000275815) - c.2775A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1371801556 | 925 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391698A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391698A>G Locations: - p.Ile925Thr (Ensembl:ENST00000275815) - c.2774T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1427742183 | 925 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143391699T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391699T>C Locations: - p.Ile925Val (Ensembl:ENST00000275815) - c.2773A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs138715519 | 926 | R>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391696G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391696G>A Locations: - p.Arg926Cys (Ensembl:ENST00000275815) - c.2776C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
CM1512494 COSV51971277 rs138715519 | 926 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA NCI-TCGA Cosmic ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.9) - SIFT: tolerated (0.13) - PolyPhen: possibly damaging (0.907) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391696G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391696G>C Locations: - p.R926G (NCI-TCGA:ENST00000275815) - p.Arg926Gly (Ensembl:ENST00000275815) - c.2776C>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: CM1512494 | |||||||
rs201517649 | 926 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143391695C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391695C>T Locations: - p.Arg926His (Ensembl:ENST00000275815) - c.2777G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs201517649 | 926 | R>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143391695C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391695C>G Locations: - p.Arg926Pro (Ensembl:ENST00000275815) - c.2777G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs138715519 | 926 | R>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.876) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143391696G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391696G>T Locations: - p.Arg926Ser (Ensembl:ENST00000275815) - c.2776C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs745352332 | 927 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391693T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391693T>C Locations: - p.Met927Val (Ensembl:ENST00000275815) - c.2779A>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805090487 | 928 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000007.14:g.143391690T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391690T>C Locations: - p.Lys928Glu (Ensembl:ENST00000275815) - c.2782A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1586575626 | 928 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.143391688T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391688T>G Locations: - p.Lys928Asn (Ensembl:ENST00000275815) - c.2784A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51969426 rs781780617 | 929 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00004394 (gnomAD) Accession: NC_000007.14:g.143391687G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391687G>A Locations: - p.R929C (NCI-TCGA:ENST00000275815) - p.Arg929Cys (Ensembl:ENST00000275815) - c.2785C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs201365734 | 929 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.143391686C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391686C>T Locations: - p.Arg929His (Ensembl:ENST00000275815) - c.2786G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99313516 | 930 | Y>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000007.14:g.143391682G>T Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391682G>T Locations: - c.2790C>A (NCI-TCGA:ENST00000275815) - p.Y930* (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 930 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143391683T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391683T>C Locations: - c.2789A>G (NCI-TCGA:ENST00000275815) - p.Y930C (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs747457918 | 931 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000007.14:g.143391681T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391681T>G Locations: - p.Ile931Leu (Ensembl:ENST00000275815) - c.2791A>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1805089338 | 934 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391671A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391671A>G Locations: - p.Phe934Ser (Ensembl:ENST00000275815) - c.2801T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1277477714 | 934 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391672A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391672A>C Locations: - p.Phe934Val (Ensembl:ENST00000275815) - c.2800T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51977309 | 934 | F>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143391671A>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391671A>T Locations: - c.2801T>A (NCI-TCGA:ENST00000275815) - p.F934Y (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs752900413 | 935 | H>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000007.14:g.143391667G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391667G>C Locations: - p.His935Gln (Ensembl:ENST00000275815) - c.2805C>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs765474060 | 936 | S>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143391665G>T Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391665G>T Locations: - p.Ser936Ter (Ensembl:ENST00000275815) - c.2807C>A (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1287929809 | 936 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: tolerated (0.94) Somatic: No Accession: NC_000007.14:g.143391666A>C Codon: TCG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391666A>C Locations: - p.Ser936Ala (Ensembl:ENST00000275815) - c.2806T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51972385 rs765474060 | 936 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.12) - PolyPhen: possibly damaging (0.583) - SIFT: tolerated (0.27) Somatic: No Population frequencies: - MAF: 0.00002389 (gnomAD) Accession: NC_000007.14:g.143391665G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391665G>A Locations: - p.S936L (NCI-TCGA:ENST00000275815) - p.Ser936Leu (Ensembl:ENST00000275815) - c.2807C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1287929809 | 936 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143391666A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391666A>G Locations: - p.Ser936Pro (Ensembl:ENST00000275815) - c.2806T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV99313595 | 937 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.355) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000007.14:g.143391662G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391662G>A Locations: - c.2810C>T (NCI-TCGA:ENST00000275815) - p.A937V (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1407825756 | 938 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391659C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391659C>T Locations: - p.Gly938Glu (Ensembl:ENST00000275815) - c.2813G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805088030 | 938 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391660C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391660C>T Locations: - p.Gly938Arg (Ensembl:ENST00000275815) - c.2812G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1472955372 | 942 | M>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391647A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391647A>T Locations: - p.Met942Lys (Ensembl:ENST00000275815) - c.2825T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1472955372 | 942 | M>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391647A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391647A>C Locations: - p.Met942Arg (Ensembl:ENST00000275815) - c.2825T>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs753912953 | 942 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143391648T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391648T>C Locations: - p.Met942Val (Ensembl:ENST00000275815) - c.2824A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805087262 | 943 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.143391643C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391643C>G Locations: - p.Glu943Asp (Ensembl:ENST00000275815) - c.2829G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1162277611 | 943 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143391645C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391645C>G Locations: - p.Glu943Gln (Ensembl:ENST00000275815) - c.2827G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1308613660 | 944 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.143391642A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391642A>G Locations: - p.Cys944Arg (Ensembl:ENST00000275815) - c.2830T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1423404234 | 944 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143391641C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391641C>T Locations: - p.Cys944Tyr (Ensembl:ENST00000275815) - c.2831G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs146015036 | 945 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143391639C>A, NC_000007.14:g.143391639C>G Codon: GTG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391639C>A, NC_000007.14:g.143391639C>G Locations: - p.Val945Leu (Ensembl:ENST00000275815) - c.2833G>T (Ensembl:ENST00000275815) - c.2833G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1166389916 | 947 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000007.14:g.143391631C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391631C>A Locations: - p.Glu947Asp (Ensembl:ENST00000275815) - c.2841G>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805086597 | 947 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.624) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143391633C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391633C>G Locations: - p.Glu947Gln (Ensembl:ENST00000275815) - c.2839G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs774299123 | 948 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391629A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391629A>G Locations: - p.Leu948Pro (Ensembl:ENST00000275815) - c.2843T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs775057203 | 950 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000007.14:g.143391623G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391623G>T Locations: - p.Ala950Asp (Ensembl:ENST00000275815) - c.2849C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs762781363 | 950 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000007.14:g.143391624C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391624C>G Locations: - p.Ala950Pro (Ensembl:ENST00000275815) - c.2848G>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs762781363 | 950 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.495) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000007.14:g.143391624C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391624C>A Locations: - p.Ala950Ser (Ensembl:ENST00000275815) - c.2848G>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV51968574 rs762781363 | 950 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.75) - PolyPhen: benign (0.071) - SIFT: tolerated (0.64) Somatic: No Population frequencies: - MAF: 0.00001992 (gnomAD) Accession: NC_000007.14:g.143391624C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391624C>T Locations: - p.A950T (NCI-TCGA:ENST00000275815) - p.Ala950Thr (Ensembl:ENST00000275815) - c.2848G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805085858 | 951 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391620T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391620T>C Locations: - p.Glu951Gly (Ensembl:ENST00000275815) - c.2852A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805085919 | 951 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391621C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391621C>T Locations: - p.Glu951Lys (Ensembl:ENST00000275815) - c.2851G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805085919 | 951 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391621C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391621C>G Locations: - p.Glu951Gln (Ensembl:ENST00000275815) - c.2851G>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs760208570 | 952 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391533T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391533T>C Locations: - p.Asp952Gly (Ensembl:ENST00000275815) - c.2855A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs760208570 | 952 | D>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391533T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391533T>A Locations: - p.Asp952Val (Ensembl:ENST00000275815) - c.2855A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs773648089 | 953 | L>Q | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391530A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391530A>T Locations: - p.Leu953Gln (Ensembl:ENST00000275815) - c.2858T>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs748538824 | 954 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.408) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143391527G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391527G>A Locations: - p.Thr954Met (Ensembl:ENST00000275815) - c.2861C>T (Ensembl:ENST00000275815) Source type: large scale study | |||||||
COSV99313397 | 955 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000007.14:g.143391525G>A Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391525G>A Locations: - c.2863C>T (NCI-TCGA:ENST00000275815) - p.Q955* (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 955 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.143391523C>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391523C>G Locations: - c.2865G>C (NCI-TCGA:ENST00000275815) - p.Q955H (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs142650387 | 957 | G>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000007.14:g.143391518C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391518C>T Locations: - p.Gly957Glu (Ensembl:ENST00000275815) - c.2870G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs768961042 | 957 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391519C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391519C>T Locations: - p.Gly957Arg (Ensembl:ENST00000275815) - c.2869G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs61732998 | 959 | T>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.143391512G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391512G>A Locations: - p.Thr959Ile (Ensembl:ENST00000275815) - c.2876C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs61732998 | 959 | T>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.838) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.143391512G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391512G>T Locations: - p.Thr959Lys (Ensembl:ENST00000275815) - c.2876C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805080374 | 961 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.775) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391506G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391506G>A Locations: - p.Pro961Leu (Ensembl:ENST00000275815) - c.2882C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs368297501 | 962 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002785 (gnomAD) Accession: NC_000007.14:g.143391504C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391504C>T Locations: - p.G962R (NCI-TCGA:ENST00000275815) - p.Gly962Arg (Ensembl:ENST00000275815) - c.2884G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805079999 | 963 | H>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391501G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391501G>T Locations: - p.His963Asn (Ensembl:ENST00000275815) - c.2887C>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805079688 | 965 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391494T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391494T>C Locations: - p.Lys965Arg (Ensembl:ENST00000275815) - c.2894A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51975038 rs753594142 | 966 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000007957 (gnomAD) Accession: NC_000007.14:g.143391492G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391492G>A Locations: - p.R966C (NCI-TCGA:ENST00000275815) - p.Arg966Cys (Ensembl:ENST00000275815) - c.2896C>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs139482378 | 966 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000007.14:g.143391491C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391491C>T Locations: - p.Arg966His (Ensembl:ENST00000275815) - c.2897G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1186849061 | 967 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391488A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391488A>G Locations: - p.Ile967Thr (Ensembl:ENST00000275815) - c.2900T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805079387 | 967 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143391489T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391489T>C Locations: - p.Ile967Val (Ensembl:ENST00000275815) - c.2899A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
TCGA novel | 968 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.779) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000007.14:g.143391486G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391486G>T Locations: - c.2902C>A (NCI-TCGA:ENST00000275815) - p.L968I (NCI-TCGA:ENST00000275815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs139639220 | 968 | L>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.143391485A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391485A>G Locations: - p.Leu968Pro (Ensembl:ENST00000275815) - c.2903T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs61732993 | 969 | C>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.647) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.143391483A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391483A>C Locations: - p.Cys969Gly (Ensembl:ENST00000275815) - c.2905T>G (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs61732993 | 969 | C>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143391483A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391483A>G Locations: - p.Cys969Arg (Ensembl:ENST00000275815) - c.2905T>C (Ensembl:ENST00000275815) Source type: large scale study | |||||||
rs1199635094 | 971 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391476A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391476A>G Locations: - p.Ile971Thr (Ensembl:ENST00000275815) - c.2912T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
COSV51970668 rs771427284 | 973 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003979 (gnomAD) Accession: NC_000007.14:g.143391471C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391471C>T Locations: - p.G973R (NCI-TCGA:ENST00000275815) - p.Gly973Arg (Ensembl:ENST00000275815) - c.2917G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1247231278 | 975 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391465T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391465T>C Locations: - p.Lys975Glu (Ensembl:ENST00000275815) - c.2923A>G (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1482180615 | 975 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391464T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391464T>G Locations: - p.Lys975Thr (Ensembl:ENST00000275815) - c.2924A>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805078324 | 976 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.547) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143391462C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391462C>T Locations: - p.Asp976Asn (Ensembl:ENST00000275815) - c.2926G>A (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1257638818 | 977 | *>C | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000007.14:g.143391457T>A Codon: TGA/TGT Consequence type: stop lost Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391457T>A Locations: - p.Ter977CysextTer64 (Ensembl:ENST00000275815) - c.2931A>T (Ensembl:ENST00000275815) Source type: large scale study Cross-references: | |||||||
rs1805078241 | 977 | *>R | Ensembl | ||||
Consequence: stop lost Somatic: No Accession: NC_000007.14:g.143391459A>G Codon: TGA/CGA Consequence type: stop lost Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143391459A>G Locations: - p.Ter977ArgextTer64 (Ensembl:ENST00000275815) - c.2929T>C (Ensembl:ENST00000275815) Source type: large scale study Cross-references: |