Q8N972 · ZN709_HUMAN
- ProteinZinc finger protein 709
- GeneZNF709
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids641 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs200400466 | 3 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.12466847A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466847A>G Locations: - p.Ser3Pro (Ensembl:ENST00000397732) - c.7T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs370702942 | 5 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.12466841C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466841C>T Locations: - p.Val5Ile (Ensembl:ENST00000397732) - c.13G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV101172052 | 7 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000019.10:g.12466833C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466833C>A Locations: - c.21G>T (NCI-TCGA:ENST00000397732) - p.E7D (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970575230 | 8 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12466831T>G Codon: GAT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466831T>G Locations: - p.Asp8Ala (Ensembl:ENST00000397732) - c.23A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1185210832 | 8 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12466830A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466830A>T Locations: - p.Asp8Glu (Ensembl:ENST00000397732) - c.24T>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172136 | 8 | D>G | 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_000019.10:g.12466831T>C Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466831T>C Locations: - c.23A>G (NCI-TCGA:ENST00000397732) - p.D8G (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs751906106 | 11 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12466822A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466822A>C Locations: - p.Val11Gly (Ensembl:ENST00000397732) - c.32T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1242962818 | 12 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12466820T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466820T>C Locations: - p.Asn12Asp (Ensembl:ENST00000397732) - c.34A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970575098 | 12 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.133) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12466818G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466818G>T Locations: - p.Asn12Lys (Ensembl:ENST00000397732) - c.36C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1198747234 | 12 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.221) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12466819T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466819T>C Locations: - p.Asn12Ser (Ensembl:ENST00000397732) - c.35A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs780318375 | 13 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12466817A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466817A>G Locations: - p.Phe13Leu (Ensembl:ENST00000397732) - c.37T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1289442929 | 13 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12466815G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466815G>C Locations: - p.Phe13Leu (Ensembl:ENST00000397732) - c.39C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs758938347 | 15 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000019.10:g.12466809C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466809C>G Locations: - p.Gln15His (Ensembl:ENST00000397732) - c.45G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194096 | 16 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.12466808C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466808C>T Locations: - c.46G>A (NCI-TCGA:ENST00000397732) - p.E16K (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194304 COSV67196188 | 18 | W>C | 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_000019.10:g.12466800C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466800C>A Locations: - c.54G>T (NCI-TCGA:ENST00000397732) - p.W18C (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1599632034 | 18 | W>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12466802A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466802A>C Locations: - p.Trp18Gly (Ensembl:ENST00000397732) - c.52T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs763681269 | 19 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12466799C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466799C>A Locations: - p.Ala19Ser (Ensembl:ENST00000397732) - c.55G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970574799 | 23 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.12466787G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466787G>A Locations: - p.Pro23Ser (Ensembl:ENST00000397732) - c.67C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172277 rs1363601768 | 24 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000007959 (gnomAD) Accession: NC_000019.10:g.12466783G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466783G>C Locations: - p.S24C (NCI-TCGA:ENST00000397732) - p.Ser24Cys (Ensembl:ENST00000397732) - c.71C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs767139615 | 25 | Q>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12466781G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466781G>A Locations: - p.Gln25Ter (Ensembl:ENST00000397732) - c.73C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs759132117 | 26 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.12466777T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466777T>C Locations: - p.Lys26Arg (Ensembl:ENST00000397732) - c.77A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1343116032 | 27 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12466775T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466775T>C Locations: - p.Lys27Glu (Ensembl:ENST00000397732) - c.79A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1343116032 | 27 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.341) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12466775T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466775T>G Locations: - p.Lys27Gln (Ensembl:ENST00000397732) - c.79A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1425838270 | 29 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12466768T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466768T>C Locations: - p.Tyr29Cys (Ensembl:ENST00000397732) - c.86A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195774 COSV67196069 rs1970574499 | 29 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.05) - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12466769A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466769A>G Locations: - p.Y29H (NCI-TCGA:ENST00000397732) - p.Tyr29His (Ensembl:ENST00000397732) - c.85T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1354525264 | 30 | R>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12466766T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466766T>A Locations: - p.Arg30Ter (Ensembl:ENST00000397732) - c.88A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs201452321 | 33 | M>T | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12466756A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466756A>G Locations: - p.Met33Thr (Ensembl:ENST00000397732) - c.98T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs374856504 | 34 | Q>R | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.95) Somatic: No Accession: NC_000019.10:g.12466753T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466753T>C Locations: - p.Gln34Arg (Ensembl:ENST00000397732) - c.101A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67194676 | 35 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000019.10:g.12466751C>A Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466751C>A Locations: - c.103G>T (NCI-TCGA:ENST00000397732) - p.E35* (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970574324 | 36 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.299) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.12466747G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466747G>A Locations: - p.Thr36Ile (Ensembl:ENST00000397732) - c.107C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1198994008 | 37 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12466744A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466744A>C Locations: - p.Phe37Cys (Ensembl:ENST00000397732) - c.110T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 38 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12466741A>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466741A>G Locations: - c.113T>C (NCI-TCGA:ENST00000397732) - p.V38A (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV67196006 | 39 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.12466739T>C Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466739T>C Locations: - c.115A>G (NCI-TCGA:ENST00000397732) - p.N39D (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194665 | 39 | N>K | 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_000019.10:g.12466737G>C Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466737G>C Locations: - c.117C>G (NCI-TCGA:ENST00000397732) - p.N39K (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 41 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.12466732G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466732G>A Locations: - c.122C>T (NCI-TCGA:ENST00000397732) - p.A41V (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1271135884 | 42 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.798) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12466729G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466729G>A Locations: - p.Ser42Phe (Ensembl:ENST00000397732) - c.125C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1200304777 | 43 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000019.10:g.12466727T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466727T>C Locations: - p.Ile43Val (Ensembl:ENST00000397732) - c.127A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1197937491 | 44 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.44) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12466519C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466519C>T Locations: - p.Gly44Glu (Ensembl:ENST00000397732) - c.131G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs766156715 | 45 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12466517C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466517C>T Locations: - p.Glu45Lys (Ensembl:ENST00000397732) - c.133G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs762668403 | 48 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000019.10:g.12466508C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466508C>T Locations: - p.Glu48Lys (Ensembl:ENST00000397732) - c.142G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs773002452 | 49 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12466503C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466503C>A Locations: - p.Glu49Asp (Ensembl:ENST00000397732) - c.147G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs769667285 | 50 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.12466502T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466502T>C Locations: - p.Lys50Glu (Ensembl:ENST00000397732) - c.148A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs369856675 | 51 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.12466498T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466498T>C Locations: - p.Asn51Ser (Ensembl:ENST00000397732) - c.152A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1336461551 | 52 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.215) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12466494A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466494A>C Locations: - p.Ile52Met (Ensembl:ENST00000397732) - c.156T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1403189250 | 52 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12466496T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466496T>C Locations: - p.Ile52Val (Ensembl:ENST00000397732) - c.154A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970572075 | 54 | D>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.487) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12466489T>G Codon: GAT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466489T>G Locations: - p.Asp54Ala (Ensembl:ENST00000397732) - c.161A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs201272425 | 54 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000019.10:g.12466488A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466488A>C Locations: - p.Asp54Glu (Ensembl:ENST00000397732) - c.162T>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs747244733 | 55 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.12466485G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466485G>C Locations: - p.His55Gln (Ensembl:ENST00000397732) - c.165C>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs377706378 | 56 | K>E | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12466484T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466484T>C Locations: - p.Lys56Glu (Ensembl:ENST00000397732) - c.166A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs775924854 | 56 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12466482T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466482T>A Locations: - p.Lys56Asn (Ensembl:ENST00000397732) - c.168A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs867788993 | 57 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12466480T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466480T>G Locations: - p.Asn57Thr (Ensembl:ENST00000397732) - c.170A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1599631869 | 58 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.284) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.12466478G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466478G>C Locations: - p.Gln58Glu (Ensembl:ENST00000397732) - c.172C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1362144958 | 58 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.458) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.12466477T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466477T>C Locations: - p.Gln58Arg (Ensembl:ENST00000397732) - c.173A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs746179893 | 61 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000019.10:g.12466467C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466467C>A Locations: - p.Lys61Asn (Ensembl:ENST00000397732) - c.183G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1568245887 | 61 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000019.10:g.12466468T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466468T>C Locations: - p.Lys61Arg (Ensembl:ENST00000397732) - c.182A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970571557 | 62 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.663) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.12466465A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12466465A>G Locations: - p.Leu62Pro (Ensembl:ENST00000397732) - c.185T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs761784362 | 64 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12465732T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465732T>C Locations: - p.Ser64Gly (Ensembl:ENST00000397732) - c.190A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1283322174 | 65 | H>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12465729G>T Codon: CAT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465729G>T Locations: - p.His65Asn (Ensembl:ENST00000397732) - c.193C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970564656 | 67 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000019.10:g.12465723C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465723C>T Locations: - p.Val67Ile (Ensembl:ENST00000397732) - c.199G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970564630 | 68 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12465720C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465720C>G Locations: - p.Glu68Gln (Ensembl:ENST00000397732) - c.202G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970564594 | 69 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465717T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465717T>C Locations: - p.Arg69Gly (Ensembl:ENST00000397732) - c.205A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs776494996 | 69 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465715C>G Codon: AGG/AGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465715C>G Locations: - p.Arg69Ser (Ensembl:ENST00000397732) - c.207G>C (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1970564527 | 70 | L>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.291) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000019.10:g.12465714G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465714G>T Locations: - p.Leu70Ile (Ensembl:ENST00000397732) - c.208C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs201224320 | 71 | C>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.12465711A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465711A>G Locations: - p.Cys71Arg (Ensembl:ENST00000397732) - c.211T>C (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs760608136 | 73 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000019.10:g.12465705T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465705T>C Locations: - p.Arg73Gly (Ensembl:ENST00000397732) - c.217A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970564336 | 73 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12465703C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465703C>A Locations: - p.Arg73Ser (Ensembl:ENST00000397732) - c.219G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs775728551 | 74 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.12465701T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465701T>C Locations: - p.Lys74Arg (Ensembl:ENST00000397732) - c.221A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 75 | E>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.437) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465698T>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465698T>G Locations: - c.224A>C (NCI-TCGA:ENST00000397732) - p.E75A (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs772372675 | 79 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465685A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465685A>C Locations: - p.Phe79Leu (Ensembl:ENST00000397732) - c.237T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs2144987228 | 80 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12465683C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465683C>T Locations: - p.Gly80Glu (Ensembl:ENST00000397732) - c.239G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 83 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12465675T>C Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465675T>C Locations: - c.247A>G (NCI-TCGA:ENST00000397732) - p.I83V (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1970564181 | 84 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12465672T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465672T>C Locations: - p.Ser84Gly (Ensembl:ENST00000397732) - c.250A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1298036195 | 84 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12465671C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465671C>A Locations: - p.Ser84Ile (Ensembl:ENST00000397732) - c.251G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1710211818 | 85 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000019.10:g.12465668T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465668T>C Locations: - p.Gln85Arg (Ensembl:ENST00000397732) - c.254A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs202008806 | 86 | T>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.12465666T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465666T>A Locations: - p.Thr86Ser (Ensembl:ENST00000397732) - c.256A>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1568245685 | 87 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12465662G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465662G>A Locations: - p.Pro87Leu (Ensembl:ENST00000397732) - c.260C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1344980470 | 88 | N>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.12465660T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465660T>G Locations: - p.Asn88His (Ensembl:ENST00000397732) - c.262A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs567117663 | 90 | K>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.12465652T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465652T>G Locations: - p.Lys90Asn (Ensembl:ENST00000397732) - c.270A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs749797361 | 91 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465651G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465651G>C Locations: - p.Pro91Ala (Ensembl:ENST00000397732) - c.271C>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1392856542 TCGA novel | 91 | P>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | TOPMed gnomAD NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12465650G>A, NC_000019.10:g.12465632_12465650del Codon: CCA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465650G>A, NC_000019.10:g.12465632_12465650del Locations: - p.Pro91Leu (Ensembl:ENST00000397732) - c.272C>T (Ensembl:ENST00000397732) - c.272_290del (NCI-TCGA:ENST00000397732) - p.P91Lfs*3 (NCI-TCGA:ENST00000397732) Source type: large scale study | |||||||
rs749797361 | 91 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.12465651G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465651G>A Locations: - p.Pro91Ser (Ensembl:ENST00000397732) - c.271C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
TCGA novel | 92 | N>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.12465647T>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465647T>G Locations: - c.275A>C (NCI-TCGA:ENST00000397732) - p.N92T (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 93 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465643C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465643C>A Locations: - c.279G>T (NCI-TCGA:ENST00000397732) - p.K93N (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1599631562 | 93 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465644T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465644T>C Locations: - p.Lys93Arg (Ensembl:ENST00000397732) - c.278A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs552007338 | 95 | T>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.12465639T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465639T>C Locations: - p.Thr95Ala (Ensembl:ENST00000397732) - c.283A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs756656156 | 95 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.12465638G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465638G>A Locations: - p.Thr95Ile (Ensembl:ENST00000397732) - c.284C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs746471677 | 97 | T>A | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000019.10:g.12465633T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465633T>C Locations: - p.Thr97Ala (Ensembl:ENST00000397732) - c.289A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs746471677 | 97 | T>S | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000019.10:g.12465633T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465633T>A Locations: - p.Thr97Ser (Ensembl:ENST00000397732) - c.289A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970563663 | 98 | R>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12465629C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465629C>A Locations: - p.Arg98Ile (Ensembl:ENST00000397732) - c.293G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1172393631 | 100 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465622T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465622T>G Locations: - p.Lys100Asn (Ensembl:ENST00000397732) - c.300A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970563570 | 101 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12465620G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465620G>A Locations: - p.Pro101Leu (Ensembl:ENST00000397732) - c.302C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970563522 | 103 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.668) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465614T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465614T>G Locations: - p.Glu103Ala (Ensembl:ENST00000397732) - c.308A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1443209099 | 103 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.12465615C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465615C>T Locations: - p.Glu103Lys (Ensembl:ENST00000397732) - c.307G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs930447266 | 105 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12465609T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465609T>C Locations: - p.Ser105Gly (Ensembl:ENST00000397732) - c.313A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1267556111 | 106 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.12465606C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465606C>T Locations: - p.Val106Met (Ensembl:ENST00000397732) - c.316G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1599631541 | 110 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.12465594C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465594C>T Locations: - p.Asp110Asn (Ensembl:ENST00000397732) - c.328G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs188565094 | 111 | Y>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.791) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465590T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465590T>C Locations: - p.Tyr111Cys (Ensembl:ENST00000397732) - c.332A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs745881161 | 112 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000019.10:g.12465586C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465586C>T Locations: - p.Met112Ile (Ensembl:ENST00000397732) - c.336G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs921781632 | 112 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000019.10:g.12465588T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465588T>C Locations: - p.Met112Val (Ensembl:ENST00000397732) - c.334A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172325 | 113 | C>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000019.10:g.12465585A>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465585A>G Locations: - c.337T>C (NCI-TCGA:ENST00000397732) - p.C113R (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1379802739 | 114 | H>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.12465581T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465581T>A Locations: - p.His114Leu (Ensembl:ENST00000397732) - c.341A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1440510363 | 115 | S>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12465578G>T Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465578G>T Locations: - p.Ser115Ter (Ensembl:ENST00000397732) - c.344C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1160704845 | 116 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12465575G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465575G>A Locations: - p.Ser116Phe (Ensembl:ENST00000397732) - c.347C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs781441952 | 116 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465576A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465576A>G Locations: - p.Ser116Pro (Ensembl:ENST00000397732) - c.346T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 119 | R>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000019.10:g.12465566C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465566C>A Locations: - c.356G>T (NCI-TCGA:ENST00000397732) - p.R119M (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1970563076 | 120 | H>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465563T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465563T>G Locations: - p.His120Pro (Ensembl:ENST00000397732) - c.359A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs765071473 | 121 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.12465561T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465561T>G Locations: - p.Met121Leu (Ensembl:ENST00000397732) - c.361A>C (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1253231439 | 121 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.12465560A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465560A>G Locations: - p.Met121Thr (Ensembl:ENST00000397732) - c.362T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs765071473 | 121 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000019.10:g.12465561T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465561T>C Locations: - p.Met121Val (Ensembl:ENST00000397732) - c.361A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67195997 rs757070588 | 122 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.21) - PolyPhen: benign (0.171) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.12465557C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465557C>T Locations: - p.R122K (NCI-TCGA:ENST00000397732) - p.Arg122Lys (Ensembl:ENST00000397732) - c.365G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172242 rs947999836 | 123 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.26) - PolyPhen: benign (0.033) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000019.10:g.12465554G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465554G>C Locations: - p.S123C (NCI-TCGA:ENST00000397732) - p.Ser123Cys (Ensembl:ENST00000397732) - c.368C>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs947999836 | 123 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.12465554G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465554G>A Locations: - p.Ser123Phe (Ensembl:ENST00000397732) - c.368C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172242 | 123 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000019.10:g.12465554G>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465554G>T Locations: - c.368C>A (NCI-TCGA:ENST00000397732) - p.S123Y (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs753675343 | 125 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12465549T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465549T>C Locations: - p.Thr125Ala (Ensembl:ENST00000397732) - c.373A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs763882660 | 125 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.12465548G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465548G>A Locations: - p.Thr125Ile (Ensembl:ENST00000397732) - c.374C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970562745 | 129 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000019.10:g.12465537A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465537A>C Locations: - p.Ser129Ala (Ensembl:ENST00000397732) - c.385T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs878920513 | 132 | Y>F | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.12465527T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465527T>A Locations: - p.Tyr132Phe (Ensembl:ENST00000397732) - c.395A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs752785395 | 133 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12465523G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465523G>T Locations: - p.His133Gln (Ensembl:ENST00000397732) - c.399C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970562637 | 133 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12465524T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465524T>C Locations: - p.His133Arg (Ensembl:ENST00000397732) - c.398A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1568245626 | 136 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.261) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12465516C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465516C>T Locations: - p.Gly136Arg (Ensembl:ENST00000397732) - c.406G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1390549323 | 136 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465515C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465515C>A Locations: - p.Gly136Val (Ensembl:ENST00000397732) - c.407G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172202 COSV67194587 rs899117848 | 137 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.1) - PolyPhen: benign (0.041) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.000004071 (gnomAD) Accession: NC_000019.10:g.12465511C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465511C>A Locations: - p.E137D (NCI-TCGA:ENST00000397732) - p.Glu137Asp (Ensembl:ENST00000397732) - c.411G>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1394079903 | 137 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12465513C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465513C>T Locations: - p.Glu137Lys (Ensembl:ENST00000397732) - c.409G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs376497348 | 139 | S>A | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465507A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465507A>C Locations: - p.Ser139Ala (Ensembl:ENST00000397732) - c.415T>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs2144986925 | 139 | S>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.12465506G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465506G>A Locations: - p.Ser139Leu (Ensembl:ENST00000397732) - c.416C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1189735355 | 140 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12465503T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465503T>C Locations: - p.Tyr140Cys (Ensembl:ENST00000397732) - c.419A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 141 | E>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12465500T>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465500T>G Locations: - c.422A>C (NCI-TCGA:ENST00000397732) - p.E141A (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1970562080 | 141 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.12465501C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465501C>G Locations: - p.Glu141Gln (Ensembl:ENST00000397732) - c.421G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs771188520 | 142 | C>F | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465497C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465497C>A Locations: - p.Cys142Phe (Ensembl:ENST00000397732) - c.425G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970561993 | 142 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.201) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465498A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465498A>G Locations: - p.Cys142Arg (Ensembl:ENST00000397732) - c.424T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs771188520 | 142 | C>S | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465497C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465497C>G Locations: - p.Cys142Ser (Ensembl:ENST00000397732) - c.425G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs2144986874 | 143 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.12465495T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465495T>C Locations: - p.Lys143Glu (Ensembl:ENST00000397732) - c.427A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs369579383 | 148 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious (0.02) - PolyPhen: benign (0.082) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00001222 (gnomAD) Accession: NC_000019.10:g.12465479C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465479C>A Locations: - p.R148I (NCI-TCGA:ENST00000397732) - p.Arg148Ile (Ensembl:ENST00000397732) - c.443G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1436367447 | 149 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12465475G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465475G>C Locations: - p.Phe149Leu (Ensembl:ENST00000397732) - c.447C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194142 rs773646499 | 152 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001624 (gnomAD) Accession: NC_000019.10:g.12465468G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465468G>A Locations: - p.R152* (NCI-TCGA:ENST00000397732) - p.Arg152Ter (Ensembl:ENST00000397732) - c.454C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1199728286 | 152 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000019.10:g.12465467C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465467C>T Locations: - p.Arg152Gln (Ensembl:ENST00000397732) - c.455G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs770157844 | 153 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.12465464C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465464C>T Locations: - p.Ser153Asn (Ensembl:ENST00000397732) - c.458G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs371379809 | 156 | R>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12465456G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465456G>A Locations: - p.Arg156Ter (Ensembl:ENST00000397732) - c.466C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67194117 rs779513337 | 156 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (1) - PolyPhen: benign (0.142) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.00002435 (gnomAD) Accession: NC_000019.10:g.12465455C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465455C>T Locations: - p.R156Q (NCI-TCGA:ENST00000397732) - p.Arg156Gln (Ensembl:ENST00000397732) - c.467G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1345820683 | 157 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000019.10:g.12465452A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465452A>G Locations: - p.Ile157Thr (Ensembl:ENST00000397732) - c.470T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970561229 | 158 | H>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465450G>T Codon: CAT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465450G>T Locations: - p.His158Asn (Ensembl:ENST00000397732) - c.472C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs771624762 | 158 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.248) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465449T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465449T>C Locations: - p.His158Arg (Ensembl:ENST00000397732) - c.473A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195331 | 160 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000019.10:g.12465443C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465443C>A Locations: - c.479G>T (NCI-TCGA:ENST00000397732) - p.R160I (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs562857083 | 161 | T>S | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.277) - SIFT: tolerated (0.27) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.12465440G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465440G>C Locations: - p.Thr161Ser (Ensembl:ENST00000397732) - c.482C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs747167268 | 162 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465437T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465437T>G Locations: - p.His162Pro (Ensembl:ENST00000397732) - c.485A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1311147057 | 169 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12465417T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465417T>C Locations: - p.Lys169Glu (Ensembl:ENST00000397732) - c.505A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970560702 | 170 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465414A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465414A>G Locations: - p.Cys170Arg (Ensembl:ENST00000397732) - c.508T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs758676680 | 172 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12465408G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465408G>A Locations: - p.Gln172Ter (Ensembl:ENST00000397732) - c.514C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs2144986708 | 173 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465405A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465405A>G Locations: - p.Cys173Arg (Ensembl:ENST00000397732) - c.517T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1203397797 | 174 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12465402C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465402C>T Locations: - p.Gly174Ser (Ensembl:ENST00000397732) - c.520G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970560460 | 174 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465401C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465401C>A Locations: - p.Gly174Val (Ensembl:ENST00000397732) - c.521G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970560425 | 175 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.776) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465399T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465399T>C Locations: - p.Lys175Glu (Ensembl:ENST00000397732) - c.523A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs777657184 | 176 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.472) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.12465395G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465395G>A Locations: - p.Ala176Val (Ensembl:ENST00000397732) - c.527C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs374882516 | 177 | F>L | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.557) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12465391G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465391G>C Locations: - p.Phe177Leu (Ensembl:ENST00000397732) - c.531C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1157554503 | 178 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000019.10:g.12465389C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465389C>A Locations: - p.Ser178Ile (Ensembl:ENST00000397732) - c.533G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1162402979 | 178 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000019.10:g.12465390T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465390T>G Locations: - p.Ser178Arg (Ensembl:ENST00000397732) - c.532A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1157554503 | 178 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000019.10:g.12465389C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465389C>G Locations: - p.Ser178Thr (Ensembl:ENST00000397732) - c.533G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970560175 | 179 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12465385C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465385C>T Locations: - p.Trp179Ter (Ensembl:ENST00000397732) - c.537G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs752731920 | 180 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000019.10:g.12465384G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465384G>A Locations: - p.Pro180Ser (Ensembl:ENST00000397732) - c.538C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs752731920 | 180 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000019.10:g.12465384G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465384G>T Locations: - p.Pro180Thr (Ensembl:ENST00000397732) - c.538C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1179607027 | 181 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.12465380C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465380C>T Locations: - p.Ser181Asn (Ensembl:ENST00000397732) - c.542G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1281939154 | 185 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000019.10:g.12465368A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465368A>G Locations: - p.Ile185Thr (Ensembl:ENST00000397732) - c.554T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970560011 | 185 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000019.10:g.12465369T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465369T>C Locations: - p.Ile185Val (Ensembl:ENST00000397732) - c.553A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1212514835 | 186 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465365T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465365T>C Locations: - p.His186Arg (Ensembl:ENST00000397732) - c.557A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172108 COSV67194776 COSV67194861 | 187 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12465363C>A Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465363C>A Locations: - c.559G>T (NCI-TCGA:ENST00000397732) - p.E187* (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172108 COSV67194776 COSV67194861 rs944461274 | 187 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.39) - PolyPhen: benign (0.001) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000019.10:g.12465363C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465363C>T Locations: - p.E187K (NCI-TCGA:ENST00000397732) - p.Glu187Lys (Ensembl:ENST00000397732) - c.559G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV101172108 COSV67194776 COSV67194861 | 187 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.12465363C>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465363C>G Locations: - c.559G>C (NCI-TCGA:ENST00000397732) - p.E187Q (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194825 rs759621924 | 188 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: tolerated (0.15) - PolyPhen: benign (0.39) - SIFT: tolerated (0.17) Somatic: No Population frequencies: - MAF: 0.000016 (gnomAD) Accession: NC_000019.10:g.12465359C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465359C>A Locations: - p.R188I (NCI-TCGA:ENST00000397732) - p.Arg188Ile (Ensembl:ENST00000397732) - c.563G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs911555397 | 189 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000019.10:g.12465356G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465356G>A Locations: - p.Thr189Ile (Ensembl:ENST00000397732) - c.566C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172203 | 193 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.261) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000019.10:g.12465343C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465343C>A Locations: - c.579G>T (NCI-TCGA:ENST00000397732) - p.E193D (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs550923838 | 193 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.352) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.12465345C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465345C>T Locations: - p.Glu193Lys (Ensembl:ENST00000397732) - c.577G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs550923838 | 193 | E>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.12465345C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465345C>G Locations: - p.Glu193Gln (Ensembl:ENST00000397732) - c.577G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194598 | 195 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.613) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000019.10:g.12465338G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465338G>A Locations: - c.584C>T (NCI-TCGA:ENST00000397732) - p.P195L (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs753172455 | 195 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465339G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465339G>A Locations: - p.Pro195Ser (Ensembl:ENST00000397732) - c.583C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1240546407 | 198 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465329C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465329C>T Locations: - p.Cys198Tyr (Ensembl:ENST00000397732) - c.593G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs763264478 | 199 | K>Q | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12465327T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465327T>G Locations: - p.Lys199Gln (Ensembl:ENST00000397732) - c.595A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs773414903 | 199 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465326T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465326T>G Locations: - p.Lys199Thr (Ensembl:ENST00000397732) - c.596A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195373 | 200 | E>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000019.10:g.12465323T>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465323T>G Locations: - c.599A>C (NCI-TCGA:ENST00000397732) - p.E200A (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195404 | 202 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.12465317C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465317C>A Locations: - c.605G>T (NCI-TCGA:ENST00000397732) - p.G202V (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195088 | 205 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000019.10:g.12465309A>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465309A>G Locations: - c.613T>C (NCI-TCGA:ENST00000397732) - p.F205L (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1332855283 | 207 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000019.10:g.12465302T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465302T>C Locations: - p.Tyr207Cys (Ensembl:ENST00000397732) - c.620A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs537621032 | 212 | R>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12465288G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465288G>A Locations: - p.Arg212Ter (Ensembl:ENST00000397732) - c.634C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs762291246 | 212 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000019.10:g.12465287C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465287C>A Locations: - p.Arg212Leu (Ensembl:ENST00000397732) - c.635G>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
TCGA novel | 212 | R>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.403) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465287C>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465287C>G Locations: - c.635G>C (NCI-TCGA:ENST00000397732) - p.R212P (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs762291246 | 212 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.99) - PolyPhen: benign (0.068) - SIFT: tolerated (0.95) Somatic: No Population frequencies: - MAF: 0.000008019 (gnomAD) Accession: NC_000019.10:g.12465287C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465287C>T Locations: - p.R212Q (NCI-TCGA:ENST00000397732) - p.Arg212Gln (Ensembl:ENST00000397732) - c.635G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1449769454 | 213 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000019.10:g.12465285C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465285C>T Locations: - p.Gly213Arg (Ensembl:ENST00000397732) - c.637G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1272573251 | 214 | H>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465281T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465281T>A Locations: - p.His214Leu (Ensembl:ENST00000397732) - c.641A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs769159349 | 215 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious (0.05) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000019.10:g.12465279T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465279T>G Locations: - p.Met215Leu (Ensembl:ENST00000397732) - c.643A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs769159349 | 215 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000019.10:g.12465279T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465279T>C Locations: - p.Met215Val (Ensembl:ENST00000397732) - c.643A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172206 COSV67194211 | 216 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.12465275C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465275C>A Locations: - c.647G>T (NCI-TCGA:ENST00000397732) - p.R216I (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172206 COSV67194211 | 216 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.67) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.12465275C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465275C>T Locations: - c.647G>A (NCI-TCGA:ENST00000397732) - p.R216K (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 216 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12465274T>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465274T>A Locations: - c.648A>T (NCI-TCGA:ENST00000397732) - p.R216S (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1398482487 | 216 | R>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465275C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465275C>G Locations: - p.Arg216Thr (Ensembl:ENST00000397732) - c.647G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195938 | 217 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: Yes Accession: NC_000019.10:g.12465271C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465271C>T Locations: - c.651G>A (NCI-TCGA:ENST00000397732) - p.M217I (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1568245536 | 217 | M>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465273T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465273T>A Locations: - p.Met217Leu (Ensembl:ENST00000397732) - c.649A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs745326480 | 217 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12465272A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465272A>G Locations: - p.Met217Thr (Ensembl:ENST00000397732) - c.650T>C (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1970558942 | 219 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465266G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465266G>A Locations: - p.Thr219Ile (Ensembl:ENST00000397732) - c.656C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970558942 | 219 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465266G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465266G>C Locations: - p.Thr219Arg (Ensembl:ENST00000397732) - c.656C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs778510510 | 221 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.558) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465261C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465261C>G Locations: - p.Glu221Gln (Ensembl:ENST00000397732) - c.661G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970558761 | 223 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12465255G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465255G>A Locations: - p.Pro223Ser (Ensembl:ENST00000397732) - c.667C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970558694 | 225 | K>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465248T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465248T>A Locations: - p.Lys225Ile (Ensembl:ENST00000397732) - c.674A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs770452098 | 225 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.12465249T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465249T>G Locations: - p.Lys225Gln (Ensembl:ENST00000397732) - c.673A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1568245520 | 226 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465245C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465245C>T Locations: - p.Cys226Tyr (Ensembl:ENST00000397732) - c.677G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs376255683 | 228 | E>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12465238T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465238T>G Locations: - p.Glu228Asp (Ensembl:ENST00000397732) - c.684A>C (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs749011851 | 228 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12465240C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465240C>G Locations: - p.Glu228Gln (Ensembl:ENST00000397732) - c.682G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs7259240 | 229 | C>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12465235G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465235G>T Locations: - p.Cys229Ter (Ensembl:ENST00000397732) - c.687C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970558271 | 230 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465233C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465233C>G Locations: - p.Gly230Ala (Ensembl:ENST00000397732) - c.689G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs752544330 | 230 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000007984 (gnomAD) Accession: NC_000019.10:g.12465234C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465234C>T Locations: - p.G230R (NCI-TCGA:ENST00000397732) - p.Gly230Arg (Ensembl:ENST00000397732) - c.688G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs781217705 | 232 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465227G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465227G>A Locations: - p.Thr232Met (Ensembl:ENST00000397732) - c.695C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs758523865 | 234 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.449) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000019.10:g.12465222T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465222T>C Locations: - p.Ser234Gly (Ensembl:ENST00000397732) - c.700A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1599631269 | 234 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000019.10:g.12465221C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465221C>A Locations: - p.Ser234Ile (Ensembl:ENST00000397732) - c.701G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1269251232 | 237 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.12465212C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465212C>G Locations: - p.Ser237Thr (Ensembl:ENST00000397732) - c.710G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195905 rs750712959 | 240 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000003994 (gnomAD) Accession: NC_000019.10:g.12465204G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465204G>A Locations: - p.R240* (NCI-TCGA:ENST00000397732) - p.Arg240Ter (Ensembl:ENST00000397732) - c.718C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194255 rs970181772 | 240 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.65) - PolyPhen: benign (0.018) - SIFT: tolerated (0.77) Somatic: No Population frequencies: - MAF: 0.00001198 (gnomAD) Accession: NC_000019.10:g.12465203C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465203C>T Locations: - p.R240Q (NCI-TCGA:ENST00000397732) - p.Arg240Gln (Ensembl:ENST00000397732) - c.719G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1599631259 | 241 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.549) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000019.10:g.12465201T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465201T>G Locations: - p.Asn241His (Ensembl:ENST00000397732) - c.721A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970557826 | 241 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000019.10:g.12465199A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465199A>T Locations: - p.Asn241Lys (Ensembl:ENST00000397732) - c.723T>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs765577750 | 242 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.693) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465198G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465198G>A Locations: - p.His242Tyr (Ensembl:ENST00000397732) - c.724C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67194643 rs762103376 | 244 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: deleterious (0.05) - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.000003995 (gnomAD) Accession: NC_000019.10:g.12465191C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465191C>A Locations: - p.R244I (NCI-TCGA:ENST00000397732) - p.Arg244Ile (Ensembl:ENST00000397732) - c.731G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194292 | 246 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.649) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.12465184G>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465184G>T Locations: - c.738C>A (NCI-TCGA:ENST00000397732) - p.H246Q (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs375309574 | 248 | G>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465179C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465179C>A Locations: - p.Gly248Val (Ensembl:ENST00000397732) - c.743G>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67194923 | 251 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.652) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000019.10:g.12465171G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465171G>A Locations: - c.751C>T (NCI-TCGA:ENST00000397732) - p.P251S (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1167304307 | 252 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465167T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465167T>C Locations: - p.Tyr252Cys (Ensembl:ENST00000397732) - c.755A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970557631 | 252 | Y>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465168A>C Codon: TAT/GAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465168A>C Locations: - p.Tyr252Asp (Ensembl:ENST00000397732) - c.754T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 253 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465163T>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465163T>G Locations: - c.759A>C (NCI-TCGA:ENST00000397732) - p.E253D (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs764537968 | 254 | C>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465162A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465162A>C Locations: - p.Cys254Gly (Ensembl:ENST00000397732) - c.760T>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs764537968 | 254 | C>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465162A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465162A>G Locations: - p.Cys254Arg (Ensembl:ENST00000397732) - c.760T>C (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1414117159 | 256 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12465156G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465156G>A Locations: - p.Gln256Ter (Ensembl:ENST00000397732) - c.766C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1419016150 | 258 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465150C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465150C>T Locations: - p.Gly258Arg (Ensembl:ENST00000397732) - c.772G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs202019372 | 259 | K>R | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465146T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465146T>C Locations: - p.Lys259Arg (Ensembl:ENST00000397732) - c.776A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV101172204 | 260 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000019.10:g.12465143G>C Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465143G>C Locations: - c.779C>G (NCI-TCGA:ENST00000397732) - p.A260G (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs761205362 | 260 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12465144C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465144C>T Locations: - p.Ala260Thr (Ensembl:ENST00000397732) - c.778G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs770525980 | 262 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.135) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12465136T>G, NC_000019.10:g.12465136T>A Codon: AGA/AGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465136T>G, NC_000019.10:g.12465136T>A Locations: - p.Arg262Ser (Ensembl:ENST00000397732) - c.786A>C (Ensembl:ENST00000397732) - c.786A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs748880063 | 263 | Y>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.447) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000019.10:g.12465135A>T Codon: TAT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465135A>T Locations: - p.Tyr263Asn (Ensembl:ENST00000397732) - c.787T>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs769584310 | 264 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000019.10:g.12465132A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465132A>G Locations: - p.Tyr264His (Ensembl:ENST00000397732) - c.790T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970557176 | 265 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000019.10:g.12465128T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465128T>C Locations: - p.Gln265Arg (Ensembl:ENST00000397732) - c.794A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1322118361 | 266 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12465125G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465125G>A Locations: - p.Thr266Ile (Ensembl:ENST00000397732) - c.797C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1322118361 | 266 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12465125G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465125G>C Locations: - p.Thr266Ser (Ensembl:ENST00000397732) - c.797C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194524 | 268 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000019.10:g.12465120G>A Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465120G>A Locations: - c.802C>T (NCI-TCGA:ENST00000397732) - p.Q268* (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs754932447 | 269 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000019.10:g.12465117T>G, NC_000019.10:g.12465117T>A Codon: ATA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465117T>G, NC_000019.10:g.12465117T>A Locations: - p.Ile269Leu (Ensembl:ENST00000397732) - c.805A>C (Ensembl:ENST00000397732) - c.805A>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs754932447 | 269 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000019.10:g.12465117T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465117T>C Locations: - p.Ile269Val (Ensembl:ENST00000397732) - c.805A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67195002 rs1970557029 | 272 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: tolerated (0.09) - PolyPhen: probably damaging (0.974) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000019.10:g.12465107C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465107C>T Locations: - p.R272K (NCI-TCGA:ENST00000397732) - p.Arg272Lys (Ensembl:ENST00000397732) - c.815G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67195002 | 272 | R>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.12465107C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465107C>A Locations: - c.815G>T (NCI-TCGA:ENST00000397732) - p.R272M (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs747013708 | 273 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.61) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000019.10:g.12465104G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465104G>A Locations: - p.Thr273Ile (Ensembl:ENST00000397732) - c.818C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs779981155 | 275 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.289) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465099T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465099T>C Locations: - p.Thr275Ala (Ensembl:ENST00000397732) - c.823A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1342567510 | 275 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.371) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465098G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465098G>T Locations: - p.Thr275Asn (Ensembl:ENST00000397732) - c.824C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194193 COSV67194671 | 277 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12465093C>A Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465093C>A Locations: - c.829G>T (NCI-TCGA:ENST00000397732) - p.E277* (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1319173487 | 277 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465092T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465092T>C Locations: - p.Glu277Gly (Ensembl:ENST00000397732) - c.830A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194193 COSV67194671 rs148352272 | 277 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000019.10:g.12465093C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465093C>T Locations: - p.E277K (NCI-TCGA:ENST00000397732) - p.Glu277Lys (Ensembl:ENST00000397732) - c.829G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1970556718 | 278 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465088T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465088T>G Locations: - p.Lys278Asn (Ensembl:ENST00000397732) - c.834A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs183502634 | 281 | Q>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.752) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00235479 (1000Genomes) Accession: NC_000019.10:g.12465080T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465080T>G Locations: - p.Gln281Pro (Ensembl:ENST00000397732) - c.842A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs183502634 | 281 | Q>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00235479 (1000Genomes) Accession: NC_000019.10:g.12465080T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465080T>C Locations: - p.Gln281Arg (Ensembl:ENST00000397732) - c.842A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs765389353 | 282 | C>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465078A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465078A>G Locations: - p.Cys282Arg (Ensembl:ENST00000397732) - c.844T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1354322021 | 283 | K>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.686) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465074T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465074T>A Locations: - p.Lys283Met (Ensembl:ENST00000397732) - c.848A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs200179001 | 284 | Q>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000019.10:g.12465072G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465072G>C Locations: - p.Gln284Glu (Ensembl:ENST00000397732) - c.850C>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1599631197 | 285 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465069A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465069A>G Locations: - p.Cys285Arg (Ensembl:ENST00000397732) - c.853T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1424670021 | 286 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465066C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465066C>A Locations: - p.Gly286Cys (Ensembl:ENST00000397732) - c.856G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970556339 | 288 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465059G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465059G>C Locations: - p.Ala288Gly (Ensembl:ENST00000397732) - c.863C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs370467287 | 288 | A>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12465060C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465060C>T Locations: - p.Ala288Thr (Ensembl:ENST00000397732) - c.862G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
TCGA novel | 291 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000019.10:g.12465050C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465050C>A Locations: - c.872G>T (NCI-TCGA:ENST00000397732) - p.C291F (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1970556254 | 291 | C>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000019.10:g.12465051A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465051A>C Locations: - p.Cys291Gly (Ensembl:ENST00000397732) - c.871T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs192754953 | 292 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.68) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000019.10:g.12465047G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465047G>A Locations: - p.Pro292Leu (Ensembl:ENST00000397732) - c.875C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970556170 | 293 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.12465045T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465045T>C Locations: - p.Thr293Ala (Ensembl:ENST00000397732) - c.877A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970556138 | 293 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.12465044G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465044G>A Locations: - p.Thr293Ile (Ensembl:ENST00000397732) - c.878C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172192 | 293 | T>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000019.10:g.12465045T>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465045T>A Locations: - c.877A>T (NCI-TCGA:ENST00000397732) - p.T293S (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172227 | 294 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.791) - SIFT: tolerated (0.38) Somatic: Yes Accession: NC_000019.10:g.12465041G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465041G>A Locations: - c.881C>T (NCI-TCGA:ENST00000397732) - p.S294F (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1275956430 | 294 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12465042A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465042A>G Locations: - p.Ser294Pro (Ensembl:ENST00000397732) - c.880T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195698 rs1262248584 | 296 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12465036G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465036G>A Locations: - p.R296* (NCI-TCGA:ENST00000397732) - p.Arg296Ter (Ensembl:ENST00000397732) - c.886C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194996 rs765803971 | 296 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.247) - SIFT: tolerated (0.94) - PolyPhen: benign (0.424) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.00001611 (gnomAD) Accession: NC_000019.10:g.12465035C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465035C>T Locations: - p.R296Q (NCI-TCGA:ENST00000397732) - p.Arg296Gln (Ensembl:ENST00000397732) - c.887G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970555917 | 297 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.51) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000019.10:g.12465032C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465032C>T Locations: - p.Ser297Asn (Ensembl:ENST00000397732) - c.890G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970555890 | 298 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465030G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465030G>A Locations: - p.His298Tyr (Ensembl:ENST00000397732) - c.892C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs762466645 | 300 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465024T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465024T>C Locations: - p.Arg300Gly (Ensembl:ENST00000397732) - c.898A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 300 | R>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12465023C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465023C>A Locations: - c.899G>T (NCI-TCGA:ENST00000397732) - p.R300M (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1465110206 | 301 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12465020A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465020A>G Locations: - p.Ile301Thr (Ensembl:ENST00000397732) - c.902T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs772871511 | 303 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.433) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465015T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465015T>C Locations: - p.Thr303Ala (Ensembl:ENST00000397732) - c.907A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1172725012 | 303 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465014G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465014G>A Locations: - p.Thr303Ile (Ensembl:ENST00000397732) - c.908C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs370178228 | 304 | G>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12465011C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465011C>T Locations: - p.Gly304Glu (Ensembl:ENST00000397732) - c.911G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV101172051 | 305 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000019.10:g.12465009C>A Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465009C>A Locations: - c.913G>T (NCI-TCGA:ENST00000397732) - p.E305* (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs747841809 | 305 | E>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465008T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465008T>G Locations: - p.Glu305Ala (Ensembl:ENST00000397732) - c.914A>C (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs866934047 | 305 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.237) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.12465009C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465009C>T Locations: - p.Glu305Lys (Ensembl:ENST00000397732) - c.913G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs866535592 | 306 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12465006T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465006T>C Locations: - p.Lys306Glu (Ensembl:ENST00000397732) - c.916A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs776541778 | 307 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12465003G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12465003G>T Locations: - p.Pro307Thr (Ensembl:ENST00000397732) - c.919C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970555496 | 308 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464999T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464999T>C Locations: - p.Tyr308Cys (Ensembl:ENST00000397732) - c.923A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172050 | 309 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.576) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000019.10:g.12464996T>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464996T>G Locations: - c.926A>C (NCI-TCGA:ENST00000397732) - p.K309T (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs768627385 | 310 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464993C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464993C>T Locations: - p.Cys310Tyr (Ensembl:ENST00000397732) - c.929G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1568245424 | 311 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464991T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464991T>C Locations: - p.Lys311Glu (Ensembl:ENST00000397732) - c.931A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs746911952 | 311 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.12464990T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464990T>C Locations: - p.Lys311Arg (Ensembl:ENST00000397732) - c.932A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194537 | 311 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000019.10:g.12464990T>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464990T>G Locations: - c.932A>C (NCI-TCGA:ENST00000397732) - p.K311T (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs867607403 | 312 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000019.10:g.12464988T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464988T>C Locations: - p.Lys312Glu (Ensembl:ENST00000397732) - c.934A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 312 | K>N | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000019.10:g.12464986del Consequence type: frameshift Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464986del Locations: - c.936del (NCI-TCGA:ENST00000397732) - p.K312Nfs*44 (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1341548133 | 313 | C>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464984C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464984C>A Locations: - p.Cys313Phe (Ensembl:ENST00000397732) - c.938G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1297928849 | 313 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464985A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464985A>G Locations: - p.Cys313Arg (Ensembl:ENST00000397732) - c.937T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1341548133 | 313 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464984C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464984C>T Locations: - p.Cys313Tyr (Ensembl:ENST00000397732) - c.938G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs201288232 | 314 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464981C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464981C>T Locations: - p.Gly314Glu (Ensembl:ENST00000397732) - c.941G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs767262465 | 315 | K>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464978T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464978T>A Locations: - p.Lys315Ile (Ensembl:ENST00000397732) - c.944A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1449518976 | 316 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12464975G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464975G>C Locations: - p.Ala316Gly (Ensembl:ENST00000397732) - c.947C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 316 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12464976C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464976C>A Locations: - c.946G>T (NCI-TCGA:ENST00000397732) - p.A316S (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1401253781 | 318 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464970T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464970T>C Locations: - p.Ser318Gly (Ensembl:ENST00000397732) - c.952A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970554999 | 320 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000019.10:g.12464963G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464963G>C Locations: - p.Pro320Arg (Ensembl:ENST00000397732) - c.959C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194926 rs1336335600 | 320 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.46) - PolyPhen: benign (0.019) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000019.10:g.12464964G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464964G>A Locations: - p.P320S (NCI-TCGA:ENST00000397732) - p.Pro320Ser (Ensembl:ENST00000397732) - c.958C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs758285983 | 321 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.659) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.12464959A>T Codon: AGT/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464959A>T Locations: - p.Ser321Arg (Ensembl:ENST00000397732) - c.963T>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194471 | 322 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000019.10:g.12464957G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464957G>A Locations: - c.965C>T (NCI-TCGA:ENST00000397732) - p.S322F (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970554910 | 323 | F>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464954A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464954A>C Locations: - p.Phe323Cys (Ensembl:ENST00000397732) - c.968T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1176952052 | 326 | H>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464945T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464945T>G Locations: - p.His326Pro (Ensembl:ENST00000397732) - c.977A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs745915577 | 326 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464944A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464944A>C Locations: - p.His326Gln (Ensembl:ENST00000397732) - c.978T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970554870 | 326 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464946G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464946G>A Locations: - p.His326Tyr (Ensembl:ENST00000397732) - c.976C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs201182032 | 328 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: tolerated (0.05) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000019.10:g.12464939C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464939C>A Locations: - p.R328I (NCI-TCGA:ENST00000397732) - p.Arg328Ile (Ensembl:ENST00000397732) - c.983G>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs2144985867 | 329 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464936A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464936A>G Locations: - p.Ile329Thr (Ensembl:ENST00000397732) - c.986T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs2144985857 | 332 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464927C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464927C>G Locations: - p.Gly332Ala (Ensembl:ENST00000397732) - c.995G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs754110213 | 335 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464918G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464918G>A Locations: - p.Pro335Leu (Ensembl:ENST00000397732) - c.1004C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs754110213 | 335 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464918G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464918G>C Locations: - p.Pro335Arg (Ensembl:ENST00000397732) - c.1004C>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs778098951 | 336 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.739) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464915T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464915T>C Locations: - p.Tyr336Cys (Ensembl:ENST00000397732) - c.1007A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1257233275 | 337 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464911A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464911A>T Locations: - p.Asp337Glu (Ensembl:ENST00000397732) - c.1011T>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970554604 | 339 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.44) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464907T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464907T>C Locations: - p.Lys339Glu (Ensembl:ENST00000397732) - c.1015A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1287577387 | 340 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.87) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000019.10:g.12464904C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464904C>T Locations: - p.Glu340Lys (Ensembl:ENST00000397732) - c.1018G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970554520 | 341 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464900C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464900C>T Locations: - p.Cys341Tyr (Ensembl:ENST00000397732) - c.1022G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs374665299 | 342 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464898C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464898C>T Locations: - p.Gly342Arg (Ensembl:ENST00000397732) - c.1024G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1284543795 | 345 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12464889A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464889A>G Locations: - p.Phe345Leu (Ensembl:ENST00000397732) - c.1033T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs372591892 | 345 | F>L | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12464887G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464887G>C Locations: - p.Phe345Leu (Ensembl:ENST00000397732) - c.1035C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1242694738 | 346 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.12464884A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464884A>C Locations: - p.Ile346Met (Ensembl:ENST00000397732) - c.1038T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1314869884 | 347 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (1) - PolyPhen: benign (0.048) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000003992 (gnomAD) Accession: NC_000019.10:g.12464882G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464882G>T Locations: - p.S347Y (NCI-TCGA:ENST00000397732) - p.Ser347Tyr (Ensembl:ENST00000397732) - c.1040C>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs759990833 | 350 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.12464874T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464874T>A Locations: - p.Ser350Cys (Ensembl:ENST00000397732) - c.1048A>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs759990833 | 350 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.433) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.12464874T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464874T>C Locations: - p.Ser350Gly (Ensembl:ENST00000397732) - c.1048A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs201572415 | 350 | S>N | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.12464873C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464873C>T Locations: - p.Ser350Asn (Ensembl:ENST00000397732) - c.1049G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1970554039 | 351 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.756) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464870T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464870T>C Locations: - p.Tyr351Cys (Ensembl:ENST00000397732) - c.1052A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1453179041 | 351 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.672) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464871A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464871A>G Locations: - p.Tyr351His (Ensembl:ENST00000397732) - c.1051T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs988597668 | 352 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464868G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464868G>A Locations: - p.Arg352Ter (Ensembl:ENST00000397732) - c.1054C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194065 rs764885852 | 352 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.9) - PolyPhen: benign (0.069) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.00001196 (gnomAD) Accession: NC_000019.10:g.12464867C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464867C>T Locations: - p.R352Q (NCI-TCGA:ENST00000397732) - p.Arg352Gln (Ensembl:ENST00000397732) - c.1055G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs776489888 | 355 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12464857C>A, NC_000019.10:g.12464857C>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464857C>A, NC_000019.10:g.12464857C>T Locations: - p.Met355Ile (Ensembl:ENST00000397732) - c.1065G>T (Ensembl:ENST00000397732) - c.1065G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs761542188 | 355 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000019.10:g.12464858A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464858A>G Locations: - p.Met355Thr (Ensembl:ENST00000397732) - c.1064T>C (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs768195372 | 356 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.399) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12464856T>G Codon: ATA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464856T>G Locations: - p.Ile356Leu (Ensembl:ENST00000397732) - c.1066A>C (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs768195372 | 356 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12464856T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464856T>C Locations: - p.Ile356Val (Ensembl:ENST00000397732) - c.1066A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs760464242 | 357 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12464853T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464853T>A Locations: - p.Met357Leu (Ensembl:ENST00000397732) - c.1069A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1421669369 | 357 | M>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12464852A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464852A>C Locations: - p.Met357Arg (Ensembl:ENST00000397732) - c.1070T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs760464242 | 357 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12464853T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464853T>C Locations: - p.Met357Val (Ensembl:ENST00000397732) - c.1069A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970553566 | 358 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.872) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464849T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464849T>C Locations: - p.His358Arg (Ensembl:ENST00000397732) - c.1073A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1722505119 | 360 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.667) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464843C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464843C>G Locations: - p.Gly360Ala (Ensembl:ENST00000397732) - c.1079G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1722505119 | 360 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464843C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464843C>A Locations: - p.Gly360Val (Ensembl:ENST00000397732) - c.1079G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1437386519 | 361 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464839A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464839A>C Locations: - p.Asn361Lys (Ensembl:ENST00000397732) - c.1083T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs775174007 | 361 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464840T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464840T>C Locations: - p.Asn361Ser (Ensembl:ENST00000397732) - c.1082A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1181896497 | 364 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12464832A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464832A>G Locations: - p.Tyr364His (Ensembl:ENST00000397732) - c.1090T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 365 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464828T>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464828T>G Locations: - c.1094A>C (NCI-TCGA:ENST00000397732) - p.K365T (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs772008229 | 366 | C>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464824G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464824G>T Locations: - p.Cys366Ter (Ensembl:ENST00000397732) - c.1098C>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs772008229 | 366 | C>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464824G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464824G>C Locations: - p.Cys366Trp (Ensembl:ENST00000397732) - c.1098C>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1261572703 | 368 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.76) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12464819T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464819T>G Locations: - p.Glu368Ala (Ensembl:ENST00000397732) - c.1103A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel rs745848959 | 372 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464807G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464807G>T Locations: - p.A372D (NCI-TCGA:ENST00000397732) - p.Ala372Asp (Ensembl:ENST00000397732) - c.1115C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs745848959 | 372 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12464807G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464807G>C Locations: - p.Ala372Gly (Ensembl:ENST00000397732) - c.1115C>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67195436 | 372 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.422) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000019.10:g.12464808C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464808C>T Locations: - c.1114G>A (NCI-TCGA:ENST00000397732) - p.A372T (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs745848959 | 372 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.338) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.12464807G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464807G>A Locations: - p.Ala372Val (Ensembl:ENST00000397732) - c.1115C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1970552924 | 375 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000019.10:g.12464798C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464798C>A Locations: - p.Cys375Phe (Ensembl:ENST00000397732) - c.1124G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs970340135 | 375 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000019.10:g.12464799A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464799A>G Locations: - p.Cys375Arg (Ensembl:ENST00000397732) - c.1123T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs2144985587 | 378 | S>T | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12464790A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464790A>T Locations: - p.Ser378Thr (Ensembl:ENST00000397732) - c.1132T>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 380 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464784G>A Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464784G>A Locations: - c.1138C>T (NCI-TCGA:ENST00000397732) - p.Q380* (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs749507729 | 381 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000019.10:g.12464781T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464781T>C Locations: - p.Ile381Val (Ensembl:ENST00000397732) - c.1141A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1381656887 | 382 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464778G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464778G>A Locations: - p.His382Tyr (Ensembl:ENST00000397732) - c.1144C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1300195363 | 383 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464774T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464774T>C Locations: - p.Glu383Gly (Ensembl:ENST00000397732) - c.1148A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs753066210 | 384 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464772G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464772G>A Locations: - p.Arg384Ter (Ensembl:ENST00000397732) - c.1150C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67194696 rs1305665047 | 384 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464771C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464771C>T Locations: - p.R384Q (NCI-TCGA:ENST00000397732) - p.Arg384Gln (Ensembl:ENST00000397732) - c.1151G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970552463 | 389 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464756T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464756T>C Locations: - p.Glu389Gly (Ensembl:ENST00000397732) - c.1166A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs755487038 | 392 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464747T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464747T>C Locations: - p.Tyr392Cys (Ensembl:ENST00000397732) - c.1175A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs781448024 | 392 | Y>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464748A>T Codon: TAT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464748A>T Locations: - p.Tyr392Asn (Ensembl:ENST00000397732) - c.1174T>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67194183 | 393 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000019.10:g.12464745C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464745C>T Locations: - c.1177G>A (NCI-TCGA:ENST00000397732) - p.E393K (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1456229123 | 394 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464742A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464742A>G Locations: - p.Cys394Arg (Ensembl:ENST00000397732) - c.1180T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1388565957 | 395 | K>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464739T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464739T>A Locations: - p.Lys395Ter (Ensembl:ENST00000397732) - c.1183A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs752167853 | 395 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464738T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464738T>G Locations: - p.Lys395Thr (Ensembl:ENST00000397732) - c.1184A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970552003 | 396 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12464734C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464734C>G Locations: - p.Gln396His (Ensembl:ENST00000397732) - c.1188G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs764832853 | 399 | K>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464727T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464727T>A Locations: - p.Lys399Ter (Ensembl:ENST00000397732) - c.1195A>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1260388146 | 399 | K>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464726T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464726T>A Locations: - p.Lys399Ile (Ensembl:ENST00000397732) - c.1196A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1260388146 | 399 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464726T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464726T>C Locations: - p.Lys399Arg (Ensembl:ENST00000397732) - c.1196A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs761336029 | 400 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464723G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464723G>C Locations: - p.Ala400Gly (Ensembl:ENST00000397732) - c.1199C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1195273743 | 400 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.12464724C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464724C>T Locations: - p.Ala400Thr (Ensembl:ENST00000397732) - c.1198G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1476472698 | 402 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.438) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.12464718T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464718T>C Locations: - p.Ser402Gly (Ensembl:ENST00000397732) - c.1204A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1240900749 | 402 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.12464717C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464717C>T Locations: - p.Ser402Asn (Ensembl:ENST00000397732) - c.1205G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1476472698 | 402 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000019.10:g.12464718T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464718T>G Locations: - p.Ser402Arg (Ensembl:ENST00000397732) - c.1204A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970551591 | 403 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000019.10:g.12464714C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464714C>A Locations: - p.Cys403Phe (Ensembl:ENST00000397732) - c.1208G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194408 COSV67195198 rs753408363 | 404 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.315) - SIFT: tolerated (0.69) - PolyPhen: benign (0.145) - SIFT: tolerated (0.67) Somatic: No Population frequencies: - MAF: 0.000003987 (gnomAD) Accession: NC_000019.10:g.12464711G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464711G>A Locations: - p.S404F (NCI-TCGA:ENST00000397732) - p.Ser404Phe (Ensembl:ENST00000397732) - c.1211C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1947589261 | 405 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464708C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464708C>T Locations: - p.Ser405Asn (Ensembl:ENST00000397732) - c.1214G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970551528 | 407 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464703A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464703A>C Locations: - p.Phe407Val (Ensembl:ENST00000397732) - c.1219T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194352 rs763757874 | 408 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001196 (gnomAD) Accession: NC_000019.10:g.12464700G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464700G>A Locations: - p.R408* (NCI-TCGA:ENST00000397732) - p.Arg408Ter (Ensembl:ENST00000397732) - c.1222C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs760281021 | 408 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464699C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464699C>A Locations: - p.Arg408Leu (Ensembl:ENST00000397732) - c.1223G>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67196102 rs760281021 | 408 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated (0.93) - PolyPhen: benign (0.307) - SIFT: tolerated (0.83) Somatic: No Population frequencies: - MAF: 0.000003988 (gnomAD) Accession: NC_000019.10:g.12464699C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464699C>T Locations: - p.R408Q (NCI-TCGA:ENST00000397732) - p.Arg408Gln (Ensembl:ENST00000397732) - c.1223G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970551294 | 409 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000019.10:g.12464695C>G, NC_000019.10:g.12464695C>T Codon: ATG/ATC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464695C>G, NC_000019.10:g.12464695C>T Locations: - p.Met409Ile (Ensembl:ENST00000397732) - c.1227G>C (Ensembl:ENST00000397732) - c.1227G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs993022375 | 409 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000019.10:g.12464697T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464697T>C Locations: - p.Met409Val (Ensembl:ENST00000397732) - c.1225A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970551249 | 410 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464693T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464693T>C Locations: - p.His410Arg (Ensembl:ENST00000397732) - c.1229A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1226966147 | 411 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464689T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464689T>G Locations: - p.Glu411Asp (Ensembl:ENST00000397732) - c.1233A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs775327070 | 411 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.12464690T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464690T>C Locations: - p.Glu411Gly (Ensembl:ENST00000397732) - c.1232A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67194133 rs771815283 | 412 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: deleterious (0.04) - PolyPhen: possibly damaging (0.592) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.000007971 (gnomAD) Accession: NC_000019.10:g.12464687C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464687C>A Locations: - p.R412I (NCI-TCGA:ENST00000397732) - p.Arg412Ile (Ensembl:ENST00000397732) - c.1235G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970551059 | 413 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000019.10:g.12464684G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464684G>A Locations: - p.Thr413Ile (Ensembl:ENST00000397732) - c.1238C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1568245291 | 414 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464680G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464680G>T Locations: - p.His414Gln (Ensembl:ENST00000397732) - c.1242C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1280150427 | 415 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464679T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464679T>C Locations: - p.Thr415Ala (Ensembl:ENST00000397732) - c.1243A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs759457940 | 415 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464678G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464678G>T Locations: - p.Thr415Asn (Ensembl:ENST00000397732) - c.1244C>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs759457940 | 415 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464678G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464678G>C Locations: - p.Thr415Ser (Ensembl:ENST00000397732) - c.1244C>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs770860310 | 416 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.12464675C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464675C>T Locations: - p.Gly416Glu (Ensembl:ENST00000397732) - c.1247G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs770025244 | 419 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464666G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464666G>T Locations: - p.Pro419His (Ensembl:ENST00000397732) - c.1256C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs770025244 | 419 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464666G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464666G>A Locations: - p.Pro419Leu (Ensembl:ENST00000397732) - c.1256C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs200490873 | 420 | H>Y | Likely benign (Ensembl) | ESP ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464664G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464664G>A Locations: - p.His420Tyr (Ensembl:ENST00000397732) - c.1258C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67194424 COSV67196094 | 422 | C>Y | 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_000019.10:g.12464657C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464657C>T Locations: - c.1265G>A (NCI-TCGA:ENST00000397732) - p.C422Y (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1293953688 | 423 | K>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464655T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464655T>A Locations: - p.Lys423Ter (Ensembl:ENST00000397732) - c.1267A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs747378370 | 424 | Q>* | ExAC | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464652G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464652G>A Locations: - p.Gln424Ter (Ensembl:ENST00000397732) - c.1270C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1464757164 | 425 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464649A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464649A>G Locations: - p.Cys425Arg (Ensembl:ENST00000397732) - c.1273T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1684987470 | 426 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464645C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464645C>T Locations: - p.Gly426Asp (Ensembl:ENST00000397732) - c.1277G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172114 | 426 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.91) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000019.10:g.12464646C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464646C>T Locations: - c.1276G>A (NCI-TCGA:ENST00000397732) - p.G426S (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1375773200 | 428 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.763) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464639G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464639G>C Locations: - p.Ala428Gly (Ensembl:ENST00000397732) - c.1283C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1421071317 | 428 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464640C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464640C>T Locations: - p.Ala428Thr (Ensembl:ENST00000397732) - c.1282G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs780645277 | 430 | S>C | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.79) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.12464634T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464634T>A Locations: - p.Ser430Cys (Ensembl:ENST00000397732) - c.1288A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs879021396 | 430 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.5) - PolyPhen: benign (0.026) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000019.10:g.12464633C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464633C>A Locations: - p.S430I (NCI-TCGA:ENST00000397732) - p.Ser430Ile (Ensembl:ENST00000397732) - c.1289G>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs780645277 | 430 | S>R | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.8) Somatic: No Accession: NC_000019.10:g.12464634T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464634T>G Locations: - p.Ser430Arg (Ensembl:ENST00000397732) - c.1288A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195743 | 431 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.7) Somatic: Yes Accession: NC_000019.10:g.12464630C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464630C>A Locations: - c.1292G>T (NCI-TCGA:ENST00000397732) - p.C431F (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs758999654 | 431 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464630C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464630C>T Locations: - p.Cys431Tyr (Ensembl:ENST00000397732) - c.1292G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV101172319 | 433 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.12464625T>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464625T>A Locations: - c.1297A>T (NCI-TCGA:ENST00000397732) - p.S433C (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs2144985183 | 433 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000019.10:g.12464624C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464624C>G Locations: - p.Ser433Thr (Ensembl:ENST00000397732) - c.1298G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195935 | 434 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.65) Somatic: Yes Accession: NC_000019.10:g.12464621G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464621G>A Locations: - c.1301C>T (NCI-TCGA:ENST00000397732) - p.S434F (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs879106672 | 435 | V>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000019.10:g.12464619C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464619C>A Locations: - p.Val435Phe (Ensembl:ENST00000397732) - c.1303G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194639 COSV67194910 rs1599630912 | 436 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464616G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464616G>A Locations: - p.R436* (NCI-TCGA:ENST00000397732) - p.Arg436Ter (Ensembl:ENST00000397732) - c.1306C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs879183015 | 436 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464615C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464615C>A Locations: - p.Arg436Leu (Ensembl:ENST00000397732) - c.1307G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs879183015 | 436 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464615C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464615C>G Locations: - p.Arg436Pro (Ensembl:ENST00000397732) - c.1307G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs879183015 | 436 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.424) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464615C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464615C>T Locations: - p.Arg436Gln (Ensembl:ENST00000397732) - c.1307G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs753363052 | 437 | I>L | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000019.10:g.12464613T>G Codon: ATA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464613T>G Locations: - p.Ile437Leu (Ensembl:ENST00000397732) - c.1309A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970549566 | 437 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000019.10:g.12464611T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464611T>C Locations: - p.Ile437Met (Ensembl:ENST00000397732) - c.1311A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1377499502 | 439 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464607C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464607C>G Locations: - p.Glu439Gln (Ensembl:ENST00000397732) - c.1315G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194206 | 440 | R>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000019.10:g.12464603C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464603C>A Locations: - c.1319G>T (NCI-TCGA:ENST00000397732) - p.R440M (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs878980641 | 440 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464602C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464602C>A Locations: - p.Arg440Ser (Ensembl:ENST00000397732) - c.1320G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1435494942 | 441 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000019.10:g.12464600G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464600G>A Locations: - p.Thr441Ile (Ensembl:ENST00000397732) - c.1322C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 444 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464592C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464592C>T Locations: - c.1330G>A (NCI-TCGA:ENST00000397732) - p.G444R (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1197440027 | 448 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464579T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464579T>C Locations: - p.Tyr448Cys (Ensembl:ENST00000397732) - c.1343A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1456588957 | 448 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464580A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464580A>G Locations: - p.Tyr448His (Ensembl:ENST00000397732) - c.1342T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs888409894 | 449 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464577C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464577C>G Locations: - p.Glu449Gln (Ensembl:ENST00000397732) - c.1345G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172084 | 450 | C>F | 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_000019.10:g.12464573C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464573C>A Locations: - c.1349G>T (NCI-TCGA:ENST00000397732) - p.C450F (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970549065 | 451 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464571T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464571T>C Locations: - p.Lys451Glu (Ensembl:ENST00000397732) - c.1351A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs755771829 | 452 | Q>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000019.10:g.12464568G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464568G>T Locations: - p.Gln452Lys (Ensembl:ENST00000397732) - c.1354C>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs752352311 | 452 | Q>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464567T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464567T>A Locations: - p.Gln452Leu (Ensembl:ENST00000397732) - c.1355A>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs767342111 | 454 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.12464562C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464562C>T Locations: - p.Gly454Ser (Ensembl:ENST00000397732) - c.1360G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970548709 | 456 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464555G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464555G>T Locations: - p.Ala456Asp (Ensembl:ENST00000397732) - c.1367C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs773050940 | 456 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464556C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464556C>T Locations: - p.Ala456Thr (Ensembl:ENST00000397732) - c.1366G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs879220196 | 458 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464550T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464550T>A Locations: - p.Ser458Cys (Ensembl:ENST00000397732) - c.1372A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs142653737 | 458 | S>I | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: tolerated (0.3) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.12464549C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464549C>A Locations: - p.Ser458Ile (Ensembl:ENST00000397732) - c.1373G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs142653737 | 458 | S>T | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.34) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.12464549C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464549C>G Locations: - p.Ser458Thr (Ensembl:ENST00000397732) - c.1373G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs773317419 | 459 | C>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000019.10:g.12464546C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464546C>A Locations: - p.Cys459Phe (Ensembl:ENST00000397732) - c.1376G>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs372887774 | 460 | S>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000019.10:g.12464543G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464543G>A Locations: - p.Ser460Phe (Ensembl:ENST00000397732) - c.1379C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1446018787 | 461 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12464540C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464540C>T Locations: - p.Ser461Asn (Ensembl:ENST00000397732) - c.1382G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs371859756 | 464 | R>* | ESP ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464532G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464532G>A Locations: - p.Arg464Ter (Ensembl:ENST00000397732) - c.1390C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV67194120 COSV67194449 | 464 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464531C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464531C>A Locations: - c.1391G>T (NCI-TCGA:ENST00000397732) - p.R464L (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194120 COSV67194449 rs776648817 | 464 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.424) - SIFT: tolerated (0.9) - PolyPhen: possibly damaging (0.622) - SIFT: tolerated (0.81) Somatic: No Population frequencies: - MAF: 0.00002002 (gnomAD) Accession: NC_000019.10:g.12464531C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464531C>T Locations: - p.R464Q (NCI-TCGA:ENST00000397732) - p.Arg464Gln (Ensembl:ENST00000397732) - c.1391G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
TCGA novel | 467 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.237) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000019.10:g.12464523C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464523C>T Locations: - c.1399G>A (NCI-TCGA:ENST00000397732) - p.E467K (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV67194130 | 468 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000019.10:g.12464519C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464519C>A Locations: - c.1403G>T (NCI-TCGA:ENST00000397732) - p.R468I (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs878940953 | 469 | I>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.12464516A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464516A>C Locations: - p.Ile469Ser (Ensembl:ENST00000397732) - c.1406T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs878940953 | 469 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464516A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464516A>G Locations: - p.Ile469Thr (Ensembl:ENST00000397732) - c.1406T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970547942 | 470 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464514G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464514G>A Locations: - p.His470Tyr (Ensembl:ENST00000397732) - c.1408C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs769009430 | 471 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464510G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464510G>A Locations: - p.Thr471Ile (Ensembl:ENST00000397732) - c.1412C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs769009430 | 471 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.615) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464510G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464510G>T Locations: - p.Thr471Asn (Ensembl:ENST00000397732) - c.1412C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172098 rs780599968 | 475 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.626) - SIFT: tolerated (0.08) - PolyPhen: possibly damaging (0.694) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000003997 (gnomAD) Accession: NC_000019.10:g.12464498G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464498G>A Locations: - p.P475L (NCI-TCGA:ENST00000397732) - p.Pro475Leu (Ensembl:ENST00000397732) - c.1424C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194872 | 475 | P>S | 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_000019.10:g.12464499G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464499G>A Locations: - c.1423C>T (NCI-TCGA:ENST00000397732) - p.P475S (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1240199108 | 476 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464495T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464495T>C Locations: - p.Tyr476Cys (Ensembl:ENST00000397732) - c.1427A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs878962853 | 476 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464496A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464496A>G Locations: - p.Tyr476His (Ensembl:ENST00000397732) - c.1426T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195844 | 477 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000019.10:g.12464493C>A Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464493C>A Locations: - c.1429G>T (NCI-TCGA:ENST00000397732) - p.E477* (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194685 | 479 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.12464487T>C Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464487T>C Locations: - c.1435A>G (NCI-TCGA:ENST00000397732) - p.K479E (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs761513042 | 481 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464481A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464481A>G Locations: - p.Cys481Arg (Ensembl:ENST00000397732) - c.1441T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1599630806 | 484 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.12464472C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464472C>T Locations: - p.Ala484Thr (Ensembl:ENST00000397732) - c.1450G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1261531592 | 485 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464467A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464467A>C Locations: - p.Phe485Leu (Ensembl:ENST00000397732) - c.1455T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs879167991 | 487 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.12464462A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464462A>C Locations: - p.Phe487Cys (Ensembl:ENST00000397732) - c.1460T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs746415202 | 488 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000019.10:g.12464459G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464459G>A Locations: - p.Ser488Phe (Ensembl:ENST00000397732) - c.1463C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1346986451 | 488 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000019.10:g.12464460A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464460A>G Locations: - p.Ser488Pro (Ensembl:ENST00000397732) - c.1462T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs746415202 | 488 | S>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464459G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464459G>T Locations: - p.Ser488Tyr (Ensembl:ENST00000397732) - c.1463C>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs981646295 | 489 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.264) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464456C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464456C>A Locations: - p.Ser489Ile (Ensembl:ENST00000397732) - c.1466G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs2144984851 | 491 | F>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464450A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464450A>C Locations: - p.Phe491Cys (Ensembl:ENST00000397732) - c.1472T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs368016211 | 492 | R>L | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464447C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464447C>A Locations: - p.Arg492Leu (Ensembl:ENST00000397732) - c.1475G>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs368016211 | 492 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.98) - PolyPhen: benign (0.165) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.00001203 (gnomAD) Accession: NC_000019.10:g.12464447C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464447C>T Locations: - p.R492Q (NCI-TCGA:ENST00000397732) - p.Arg492Gln (Ensembl:ENST00000397732) - c.1475G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195900 rs777327200 | 492 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000008013 (gnomAD) Accession: NC_000019.10:g.12464448G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464448G>A Locations: - p.R492W (NCI-TCGA:ENST00000397732) - p.Arg492Trp (Ensembl:ENST00000397732) - c.1474C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs879117838 | 493 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000019.10:g.12464443C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464443C>T Locations: - p.Met493Ile (Ensembl:ENST00000397732) - c.1479G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1359945252 | 493 | M>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000019.10:g.12464445T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464445T>A Locations: - p.Met493Leu (Ensembl:ENST00000397732) - c.1477A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970547001 | 494 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464441T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464441T>G Locations: - p.His494Pro (Ensembl:ENST00000397732) - c.1481A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1331591091 | 494 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464440A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464440A>C Locations: - p.His494Gln (Ensembl:ENST00000397732) - c.1482T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970547033 | 494 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464442G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464442G>A Locations: - p.His494Tyr (Ensembl:ENST00000397732) - c.1480C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970546910 | 495 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464438T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464438T>G Locations: - p.Glu495Ala (Ensembl:ENST00000397732) - c.1484A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970546942 | 495 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000019.10:g.12464439C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464439C>T Locations: - p.Glu495Lys (Ensembl:ENST00000397732) - c.1483G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs752256879 | 496 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464434C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464434C>A Locations: - p.Arg496Ser (Ensembl:ENST00000397732) - c.1488G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970546809 | 497 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000019.10:g.12464432G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464432G>A Locations: - p.Thr497Ile (Ensembl:ENST00000397732) - c.1490C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs767021744 | 497 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.172) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.12464433T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464433T>A Locations: - p.Thr497Ser (Ensembl:ENST00000397732) - c.1489A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1158590418 | 498 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464428G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464428G>C Locations: - p.His498Gln (Ensembl:ENST00000397732) - c.1494C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs767486818 | 499 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.727) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12464427T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464427T>A Locations: - p.Thr499Ser (Ensembl:ENST00000397732) - c.1495A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs878879631 | 501 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464420T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464420T>A Locations: - p.Glu501Val (Ensembl:ENST00000397732) - c.1502A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 502 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464416T>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464416T>G Locations: - c.1506A>C (NCI-TCGA:ENST00000397732) - p.K502N (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs751322509 | 503 | P>L | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464414G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464414G>A Locations: - p.Pro503Leu (Ensembl:ENST00000397732) - c.1508C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs535335320 | 504 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464411T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464411T>C Locations: - p.Tyr504Cys (Ensembl:ENST00000397732) - c.1511A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1272090752 | 504 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464412A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464412A>G Locations: - p.Tyr504His (Ensembl:ENST00000397732) - c.1510T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1314449058 | 505 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.82) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464407T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464407T>G Locations: - p.Glu505Asp (Ensembl:ENST00000397732) - c.1515A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970546509 | 507 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464403T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464403T>C Locations: - p.Lys507Glu (Ensembl:ENST00000397732) - c.1519A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 508 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.12464398T>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464398T>G Locations: - c.1524A>C (NCI-TCGA:ENST00000397732) - p.Q508H (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV101172176 | 509 | C>R | 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_000019.10:g.12464397A>G Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464397A>G Locations: - c.1525T>C (NCI-TCGA:ENST00000397732) - p.C509R (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs879002444 | 510 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464393C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464393C>T Locations: - p.Gly510Asp (Ensembl:ENST00000397732) - c.1529G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs944518672 | 512 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.823) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464387G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464387G>C Locations: - p.Ala512Gly (Ensembl:ENST00000397732) - c.1535C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970546378 | 512 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.181) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12464388C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464388C>T Locations: - p.Ala512Thr (Ensembl:ENST00000397732) - c.1534G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1364637653 | 514 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.572) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000019.10:g.12464382T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464382T>C Locations: - p.Ser514Gly (Ensembl:ENST00000397732) - c.1540A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1159677641 | 514 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000019.10:g.12464381C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464381C>A Locations: - p.Ser514Ile (Ensembl:ENST00000397732) - c.1541G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1472572994 | 515 | C>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000019.10:g.12464378C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464378C>A Locations: - p.Cys515Phe (Ensembl:ENST00000397732) - c.1544G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1472572994 | 515 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464378C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464378C>T Locations: - p.Cys515Tyr (Ensembl:ENST00000397732) - c.1544G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1235976424 | 517 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.587) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464372C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464372C>A Locations: - p.Ser517Ile (Ensembl:ENST00000397732) - c.1550G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs878931955 | 517 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12464373T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464373T>G Locations: - p.Ser517Arg (Ensembl:ENST00000397732) - c.1549A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs762863425 | 518 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.12464369G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464369G>C Locations: - p.Ser518Cys (Ensembl:ENST00000397732) - c.1553C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1395798765 | 519 | F>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.12464367A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464367A>T Locations: - p.Phe519Ile (Ensembl:ENST00000397732) - c.1555T>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1700683578 | 519 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464365A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464365A>T Locations: - p.Phe519Leu (Ensembl:ENST00000397732) - c.1557T>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1395798765 | 519 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.12464367A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464367A>C Locations: - p.Phe519Val (Ensembl:ENST00000397732) - c.1555T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194456 rs1258055711 | 520 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000004005 (gnomAD) Accession: NC_000019.10:g.12464364G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464364G>A Locations: - p.R520* (NCI-TCGA:ENST00000397732) - p.Arg520Ter (Ensembl:ENST00000397732) - c.1558C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs371387854 | 520 | R>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464363C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464363C>G Locations: - p.Arg520Pro (Ensembl:ENST00000397732) - c.1559G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs371387854 | 520 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (1) - PolyPhen: benign (0.38) - SIFT: tolerated (0.88) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000019.10:g.12464363C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464363C>T Locations: - p.R520Q (NCI-TCGA:ENST00000397732) - p.Arg520Gln (Ensembl:ENST00000397732) - c.1559G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs879005463 | 521 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000019.10:g.12464359C>G, NC_000019.10:g.12464359C>T Codon: ATG/ATC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464359C>G, NC_000019.10:g.12464359C>T Locations: - p.Met521Ile (Ensembl:ENST00000397732) - c.1563G>C (Ensembl:ENST00000397732) - c.1563G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1164521346 | 521 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000019.10:g.12464360A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464360A>G Locations: - p.Met521Thr (Ensembl:ENST00000397732) - c.1562T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1351498639 | 522 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464357T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464357T>C Locations: - p.His522Arg (Ensembl:ENST00000397732) - c.1565A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970545679 | 523 | E>A | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464358_12464361dup Codon: ATGCATGAA/ATGCATGCATGAA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464358_12464361dup Locations: - p.Glu523AlafsTer2 (Ensembl:ENST00000397732) - c.1567_1568insCATG (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs187680484 | 523 | E>G | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.12464354T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464354T>C Locations: - p.Glu523Gly (Ensembl:ENST00000397732) - c.1568A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs761738257 | 524 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464350C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464350C>A Locations: - p.Arg524Ser (Ensembl:ENST00000397732) - c.1572G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs879122626 | 525 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.12464348G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464348G>A Locations: - p.Thr525Ile (Ensembl:ENST00000397732) - c.1574C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs369223808 | 525 | T>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.447) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.12464349T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464349T>A Locations: - p.Thr525Ser (Ensembl:ENST00000397732) - c.1573A>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs776791257 | 526 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464345T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464345T>C Locations: - p.His526Arg (Ensembl:ENST00000397732) - c.1577A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1355163896 | 526 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464346G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464346G>A Locations: - p.His526Tyr (Ensembl:ENST00000397732) - c.1576C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1449512591 | 527 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464343T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464343T>C Locations: - p.Thr527Ala (Ensembl:ENST00000397732) - c.1579A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs768962711 | 527 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464342G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464342G>A Locations: - p.Thr527Ile (Ensembl:ENST00000397732) - c.1580C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs768962711 | 527 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464342G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464342G>T Locations: - p.Thr527Asn (Ensembl:ENST00000397732) - c.1580C>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs768962711 | 527 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12464342G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464342G>C Locations: - p.Thr527Ser (Ensembl:ENST00000397732) - c.1580C>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1217041079 | 529 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.12464337C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464337C>G Locations: - p.Glu529Gln (Ensembl:ENST00000397732) - c.1585G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs775980012 | 532 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.12464327T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464327T>C Locations: - p.Tyr532Cys (Ensembl:ENST00000397732) - c.1595A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs772626484 | 533 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.156) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000019.10:g.12464325C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464325C>T Locations: - p.Glu533Lys (Ensembl:ENST00000397732) - c.1597G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1023084631 | 534 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464322A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464322A>G Locations: - p.Cys534Arg (Ensembl:ENST00000397732) - c.1600T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs202242871 | 540 | A>E | Variant of uncertain significance (Ensembl) | 1000Genomes ESP 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_000019.10:g.12464303G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464303G>T Locations: - p.Ala540Glu (Ensembl:ENST00000397732) - c.1619C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs202242871 | 540 | A>G | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.663) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.12464303G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464303G>C Locations: - p.Ala540Gly (Ensembl:ENST00000397732) - c.1619C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1469791430 | 540 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464304C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464304C>A Locations: - p.Ala540Ser (Ensembl:ENST00000397732) - c.1618G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1469791430 | 540 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464304C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464304C>T Locations: - p.Ala540Thr (Ensembl:ENST00000397732) - c.1618G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs202242871 | 540 | A>V | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.12464303G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464303G>A Locations: - p.Ala540Val (Ensembl:ENST00000397732) - c.1619C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1318789340 | 542 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000019.10:g.12464298T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464298T>A Locations: - p.Ser542Cys (Ensembl:ENST00000397732) - c.1624A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970544599 | 542 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000019.10:g.12464297C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464297C>T Locations: - p.Ser542Asn (Ensembl:ENST00000397732) - c.1625G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1422990131 | 543 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000019.10:g.12464294C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464294C>G Locations: - p.Cys543Ser (Ensembl:ENST00000397732) - c.1628G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1042766209 | 545 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.12464288C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464288C>T Locations: - p.Ser545Asn (Ensembl:ENST00000397732) - c.1634G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970544421 | 545 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.12464289T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464289T>G Locations: - p.Ser545Arg (Ensembl:ENST00000397732) - c.1633A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67196171 | 546 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.438) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000019.10:g.12464285G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464285G>A Locations: - c.1637C>T (NCI-TCGA:ENST00000397732) - p.S546F (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs879245144 | 547 | I>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000019.10:g.12464283T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464283T>A Locations: - p.Ile547Phe (Ensembl:ENST00000397732) - c.1639A>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1229470055 | 547 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.253) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464282A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464282A>G Locations: - p.Ile547Thr (Ensembl:ENST00000397732) - c.1640T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs879245144 | 547 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464283T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464283T>C Locations: - p.Ile547Val (Ensembl:ENST00000397732) - c.1639A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194576 rs754601314 | 548 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001251 (gnomAD) Accession: NC_000019.10:g.12464280G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464280G>A Locations: - p.R548* (NCI-TCGA:ENST00000397732) - p.Arg548Ter (Ensembl:ENST00000397732) - c.1642C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194248 rs1970544213 | 548 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (1) - PolyPhen: benign (0.215) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000019.10:g.12464279C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464279C>T Locations: - p.R548Q (NCI-TCGA:ENST00000397732) - p.Arg548Gln (Ensembl:ENST00000397732) - c.1643G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs200898191 | 549 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000019.10:g.12464275T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464275T>C Locations: - p.Ile549Met (Ensembl:ENST00000397732) - c.1647A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970544181 | 549 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000019.10:g.12464277T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464277T>C Locations: - p.Ile549Val (Ensembl:ENST00000397732) - c.1645A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970544080 | 550 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464273T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464273T>C Locations: - p.His550Arg (Ensembl:ENST00000397732) - c.1649A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172248 | 550 | H>Y | 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_000019.10:g.12464274G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464274G>A Locations: - c.1648C>T (NCI-TCGA:ENST00000397732) - p.H550Y (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 551 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000019.10:g.12464271C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464271C>T Locations: - c.1651G>A (NCI-TCGA:ENST00000397732) - p.E551K (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV67195835 | 552 | R>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000019.10:g.12464267C>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464267C>A Locations: - c.1655G>T (NCI-TCGA:ENST00000397732) - p.R552M (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1287223830 | 553 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464265T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464265T>C Locations: - p.Thr553Ala (Ensembl:ENST00000397732) - c.1657A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172157 | 554 | H>D | 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_000019.10:g.12464262G>C Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464262G>C Locations: - c.1660C>G (NCI-TCGA:ENST00000397732) - p.H554D (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1229674416 | 554 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464262G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464262G>A Locations: - p.His554Tyr (Ensembl:ENST00000397732) - c.1660C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1292395566 | 557 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464252T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464252T>C Locations: - p.Glu557Gly (Ensembl:ENST00000397732) - c.1670A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172055 | 557 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.218) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000019.10:g.12464253C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464253C>T Locations: - c.1669G>A (NCI-TCGA:ENST00000397732) - p.E557K (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970543883 | 559 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464247G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464247G>C Locations: - p.Pro559Ala (Ensembl:ENST00000397732) - c.1675C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67196002 | 559 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.492) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000019.10:g.12464246G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464246G>A Locations: - c.1676C>T (NCI-TCGA:ENST00000397732) - p.P559L (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970543761 | 562 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464238A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464238A>G Locations: - p.Cys562Arg (Ensembl:ENST00000397732) - c.1684T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1216287697 | 567 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464221C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464221C>G Locations: - p.Lys567Asn (Ensembl:ENST00000397732) - c.1701G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs200051842 | 569 | F>S | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464216A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464216A>G Locations: - p.Phe569Ser (Ensembl:ENST00000397732) - c.1706T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs751271124 | 569 | F>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464217A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464217A>C Locations: - p.Phe569Val (Ensembl:ENST00000397732) - c.1705T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1299353444 | 570 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000019.10:g.12464213C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464213C>T Locations: - p.Ser570Asn (Ensembl:ENST00000397732) - c.1709G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1368928375 | 571 | C>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000019.10:g.12464210C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464210C>A Locations: - p.Cys571Phe (Ensembl:ENST00000397732) - c.1712G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1436117238 | 572 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.231) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464207G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464207G>T Locations: - p.Ser572Tyr (Ensembl:ENST00000397732) - c.1715C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1005213970 | 573 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.12464204C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464204C>G Locations: - p.Ser573Thr (Ensembl:ENST00000397732) - c.1718G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1406151693 | 575 | V>F | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000019.10:g.12464199C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464199C>A Locations: - p.Val575Phe (Ensembl:ENST00000397732) - c.1723G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172295 rs1399894184 | 576 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000004598 (gnomAD) Accession: NC_000019.10:g.12464196G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464196G>A Locations: - p.R576* (NCI-TCGA:ENST00000397732) - p.Arg576Ter (Ensembl:ENST00000397732) - c.1726C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs779818482 | 576 | R>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.12464195C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464195C>A Locations: - p.Arg576Leu (Ensembl:ENST00000397732) - c.1727G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs779818482 | 576 | R>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464195C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464195C>G Locations: - p.Arg576Pro (Ensembl:ENST00000397732) - c.1727G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195303 rs779818482 | 576 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.94) - PolyPhen: benign (0.048) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000004615 (gnomAD) Accession: NC_000019.10:g.12464195C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464195C>T Locations: - p.R576Q (NCI-TCGA:ENST00000397732) - p.Arg576Gln (Ensembl:ENST00000397732) - c.1727G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs750242333 | 577 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000019.10:g.12464191C>G, NC_000019.10:g.12464191C>T Codon: ATG/ATC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464191C>G, NC_000019.10:g.12464191C>T Locations: - p.Met577Ile (Ensembl:ENST00000397732) - c.1731G>C (Ensembl:ENST00000397732) - c.1731G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs758119467 | 577 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000019.10:g.12464193T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464193T>C Locations: - p.Met577Val (Ensembl:ENST00000397732) - c.1729A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs765033792 | 578 | H>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464189T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464189T>G Locations: - p.His578Pro (Ensembl:ENST00000397732) - c.1733A>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs960165471 | 578 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464188A>T Codon: CAT/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464188A>T Locations: - p.His578Gln (Ensembl:ENST00000397732) - c.1734T>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194624 | 580 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.228) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000019.10:g.12464183C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464183C>T Locations: - c.1739G>A (NCI-TCGA:ENST00000397732) - p.R580K (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs763013437 | 581 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000019.10:g.12464180G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464180G>A Locations: - p.Thr581Ile (Ensembl:ENST00000397732) - c.1742C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs763013437 | 581 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.602) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.12464180G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464180G>C Locations: - p.Thr581Ser (Ensembl:ENST00000397732) - c.1742C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1568244980 | 582 | H>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464178G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464178G>T Locations: - p.His582Asn (Ensembl:ENST00000397732) - c.1744C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs761837845 | 583 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464175T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464175T>C Locations: - p.Thr583Ala (Ensembl:ENST00000397732) - c.1747A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1468609356 | 583 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464174G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464174G>A Locations: - p.Thr583Ile (Ensembl:ENST00000397732) - c.1748C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970542795 | 584 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464172C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464172C>T Locations: - p.Gly584Arg (Ensembl:ENST00000397732) - c.1750G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs200288099 | 585 | V>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464168A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464168A>T Locations: - p.Val585Glu (Ensembl:ENST00000397732) - c.1754T>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs753834244 | 585 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464169C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464169C>T Locations: - p.Val585Met (Ensembl:ENST00000397732) - c.1753G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs775606084 | 586 | K>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464165T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464165T>C Locations: - p.Lys586Arg (Ensembl:ENST00000397732) - c.1757A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs952866478 | 588 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464159T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464159T>C Locations: - p.Tyr588Cys (Ensembl:ENST00000397732) - c.1763A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970542491 | 590 | C>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464154A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464154A>C Locations: - p.Cys590Gly (Ensembl:ENST00000397732) - c.1768T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172159 rs1970542334 | 593 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.12464144C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464144C>T Locations: - p.C593Y (NCI-TCGA:ENST00000397732) - p.Cys593Tyr (Ensembl:ENST00000397732) - c.1778G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1329581724 | 594 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464141T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464141T>C Locations: - p.Asp594Gly (Ensembl:ENST00000397732) - c.1781A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
TCGA novel | 596 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464135G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464135G>A Locations: - c.1787C>T (NCI-TCGA:ENST00000397732) - p.A596V (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1970542209 | 597 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.12464133A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464133A>G Locations: - p.Phe597Leu (Ensembl:ENST00000397732) - c.1789T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1401119224 | 597 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.12464131G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464131G>T Locations: - p.Phe597Leu (Ensembl:ENST00000397732) - c.1791C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1442449988 | 598 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000019.10:g.12464128A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464128A>C Locations: - p.Ser598Arg (Ensembl:ENST00000397732) - c.1794T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1175526355 | 598 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000019.10:g.12464129C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464129C>G Locations: - p.Ser598Thr (Ensembl:ENST00000397732) - c.1793G>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1413819940 | 599 | C>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000019.10:g.12464127A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464127A>C Locations: - p.Cys599Gly (Ensembl:ENST00000397732) - c.1795T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1599630568 | 600 | S>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000019.10:g.12464123G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464123G>A Locations: - p.Ser600Leu (Ensembl:ENST00000397732) - c.1799C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1423011640 | 601 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.449) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464121G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464121G>A Locations: - p.Arg601Cys (Ensembl:ENST00000397732) - c.1801C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67194976 COSV67195829 rs551968485 | 601 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.272) - SIFT: deleterious (0.03) - PolyPhen: benign (0.268) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000019.10:g.12464120C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464120C>T Locations: - p.R601H (NCI-TCGA:ENST00000397732) - p.Arg601His (Ensembl:ENST00000397732) - c.1802G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1423011640 | 601 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464121G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464121G>T Locations: - p.Arg601Ser (Ensembl:ENST00000397732) - c.1801C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970541860 | 602 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.12464117G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464117G>C Locations: - p.Ser602Cys (Ensembl:ENST00000397732) - c.1805C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67196194 | 602 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.5) Somatic: Yes Accession: NC_000019.10:g.12464117G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464117G>A Locations: - c.1805C>T (NCI-TCGA:ENST00000397732) - p.S602F (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970541890 | 602 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.12464118A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464118A>G Locations: - p.Ser602Pro (Ensembl:ENST00000397732) - c.1804T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970541805 | 603 | F>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.12464115A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464115A>T Locations: - p.Phe603Ile (Ensembl:ENST00000397732) - c.1807T>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1267423371 | 603 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.683) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464114A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464114A>G Locations: - p.Phe603Ser (Ensembl:ENST00000397732) - c.1808T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1454559603 | 604 | R>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464112G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464112G>A Locations: - p.Arg604Ter (Ensembl:ENST00000397732) - c.1810C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs202113977 | 604 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.94) Somatic: No Accession: NC_000019.10:g.12464111C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464111C>T Locations: - p.Arg604Gln (Ensembl:ENST00000397732) - c.1811G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1458855780 | 605 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000019.10:g.12464107G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464107G>C Locations: - p.Ile605Met (Ensembl:ENST00000397732) - c.1815C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1176387110 | 605 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000019.10:g.12464109T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464109T>C Locations: - p.Ile605Val (Ensembl:ENST00000397732) - c.1813A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs771304417 | 606 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464105T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464105T>C Locations: - p.His606Arg (Ensembl:ENST00000397732) - c.1817A>G (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs1310921645 | 608 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | 1000Genomes dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000005717 (gnomAD) Accession: NC_000019.10:g.12464100G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464100G>A Locations: - p.R608* (NCI-TCGA:ENST00000397732) - p.Arg608Ter (Ensembl:ENST00000397732) - c.1822C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs374319425 | 608 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464099C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464099C>A Locations: - p.Arg608Leu (Ensembl:ENST00000397732) - c.1823G>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs374319425 | 608 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.05) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000009912 (gnomAD) Accession: NC_000019.10:g.12464099C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464099C>T Locations: - p.R608Q (NCI-TCGA:ENST00000397732) - p.Arg608Gln (Ensembl:ENST00000397732) - c.1823G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs997336502 | 611 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.463) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464091T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464091T>C Locations: - p.Thr611Ala (Ensembl:ENST00000397732) - c.1831A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs2144984050 | 611 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.768) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464090G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464090G>A Locations: - p.Thr611Ile (Ensembl:ENST00000397732) - c.1832C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970541328 | 612 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464087C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464087C>T Locations: - p.Gly612Glu (Ensembl:ENST00000397732) - c.1835G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV101172113 | 615 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.12464079G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464079G>A Locations: - c.1843C>T (NCI-TCGA:ENST00000397732) - p.P615S (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970541155 | 616 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464075T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464075T>C Locations: - p.Tyr616Cys (Ensembl:ENST00000397732) - c.1847A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs947050050 | 616 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464076A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464076A>G Locations: - p.Tyr616His (Ensembl:ENST00000397732) - c.1846T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1302294928 | 617 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464072G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464072G>T Locations: - p.Ala617Glu (Ensembl:ENST00000397732) - c.1850C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970541059 | 617 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.12464073C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464073C>T Locations: - p.Ala617Thr (Ensembl:ENST00000397732) - c.1849G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67195780 | 617 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000019.10:g.12464072G>A Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464072G>A Locations: - c.1850C>T (NCI-TCGA:ENST00000397732) - p.A617V (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970540972 | 618 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464069C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464069C>T Locations: - p.Cys618Tyr (Ensembl:ENST00000397732) - c.1853G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1445940279 | 619 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.12464067G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464067G>C Locations: - p.Gln619Glu (Ensembl:ENST00000397732) - c.1855C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1445940279 | 619 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464067G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464067G>T Locations: - p.Gln619Lys (Ensembl:ENST00000397732) - c.1855C>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970540901 | 620 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.12464064G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464064G>A Locations: - p.Gln620Ter (Ensembl:ENST00000397732) - c.1858C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970540826 | 622 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.12464058C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464058C>T Locations: - p.Gly622Ser (Ensembl:ENST00000397732) - c.1864G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1017447014 | 624 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464051G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464051G>C Locations: - p.Ala624Gly (Ensembl:ENST00000397732) - c.1871C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1008777422 | 625 | F>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464048A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464048A>C Locations: - p.Phe625Cys (Ensembl:ENST00000397732) - c.1874T>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1008777422 | 625 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464048A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464048A>G Locations: - p.Phe625Ser (Ensembl:ENST00000397732) - c.1874T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs201836293 | 626 | K>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.54) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.12464045T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464045T>C Locations: - p.Lys626Arg (Ensembl:ENST00000397732) - c.1877A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1471685161 | 627 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000019.10:g.12464043A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464043A>G Locations: - p.Cys627Arg (Ensembl:ENST00000397732) - c.1879T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs753888196 | 627 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.12464042C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464042C>T Locations: - p.Cys627Tyr (Ensembl:ENST00000397732) - c.1880G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs764268558 | 629 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.349) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.12464037G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464037G>A Locations: - p.Arg629Cys (Ensembl:ENST00000397732) - c.1885C>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs183982301 | 629 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.12464036C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464036C>T Locations: - p.Arg629His (Ensembl:ENST00000397732) - c.1886G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs183982301 | 629 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.12464036C>A Codon: CGT/CTT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464036C>A Locations: - p.Arg629Leu (Ensembl:ENST00000397732) - c.1886G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs376984613 | 632 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000005671 (gnomAD) Accession: NC_000019.10:g.12464028G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464028G>A Locations: - p.R632* (NCI-TCGA:ENST00000397732) - p.Arg632Ter (Ensembl:ENST00000397732) - c.1894C>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs199608463 | 632 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.95) Somatic: No Accession: NC_000019.10:g.12464027C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464027C>T Locations: - p.Arg632Gln (Ensembl:ENST00000397732) - c.1895G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs774556256 | 633 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000019.10:g.12464024A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464024A>G Locations: - p.Ile633Thr (Ensembl:ENST00000397732) - c.1898T>C (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970540360 | 633 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000019.10:g.12464025T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464025T>C Locations: - p.Ile633Val (Ensembl:ENST00000397732) - c.1897A>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs2144983861 | 634 | H>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.12464022G>C Codon: CAT/GAT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464022G>C Locations: - p.His634Asp (Ensembl:ENST00000397732) - c.1900C>G (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
COSV67196260 | 635 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (0.53) Somatic: Yes Accession: NC_000019.10:g.12464019C>T Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464019C>T Locations: - c.1903G>A (NCI-TCGA:ENST00000397732) - p.E635K (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1410122557 | 636 | R>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464015C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464015C>A Locations: - p.Arg636Ile (Ensembl:ENST00000397732) - c.1907G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs773300615 COSV67194817 | 636 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.452) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000019.10:g.12464014T>G, NC_000019.10:g.12464014T>A Codon: AGA/AGC Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464014T>G, NC_000019.10:g.12464014T>A Locations: - p.Arg636Ser (Ensembl:ENST00000397732) - c.1908A>C (Ensembl:ENST00000397732) - c.1908A>T (NCI-TCGA:ENST00000397732) - p.R636S (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs148951852 | 637 | V>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.31) Somatic: No Population frequencies: - MAF: 0.00156986 (1000Genomes) Accession: NC_000019.10:g.12464013C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464013C>T Locations: - p.Val637Ile (Ensembl:ENST00000397732) - c.1909G>A (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs1970540146 | 639 | S>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464006C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464006C>A Locations: - p.Ser639Ile (Ensembl:ENST00000397732) - c.1916G>T (Ensembl:ENST00000397732) Source type: large scale study Cross-references: | |||||||
rs773640894 | 640 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464003C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464003C>T Locations: - p.Gly640Glu (Ensembl:ENST00000397732) - c.1919G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs368416605 | 640 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.12464004C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464004C>T Locations: - p.Gly640Arg (Ensembl:ENST00000397732) - c.1918G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs773640894 | 640 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.423) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.12464003C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464003C>A Locations: - p.Gly640Val (Ensembl:ENST00000397732) - c.1919G>T (Ensembl:ENST00000397732) Source type: large scale study | |||||||
rs770296077 | 641 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.12464001C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12464001C>T Locations: - p.Glu641Lys (Ensembl:ENST00000397732) - c.1921G>A (Ensembl:ENST00000397732) Source type: large scale study | |||||||
COSV101172240 | 642 | *>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop retained Somatic: Yes Accession: NC_000019.10:g.12463996T>C Consequence type: stop retained Cytogenetic band: 19p13.2 Genomic location: NC_000019.10:g.12463996T>C Locations: - c.1926A>G (NCI-TCGA:ENST00000397732) - p.*642= (NCI-TCGA:ENST00000397732) Source type: large scale study Cross-references: |