Q5SVM7 · Q5SVM7_HUMAN
- ProteinRibosomal protein S6 kinase A1
- GeneRPS6KA1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids115 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1486225212 | 1 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NW_009646195.1:g.59888A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.59888A>G Locations: - p.Asn1Asp (Ensembl:ENST00000629099) - c.1A>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1486225212 | 1 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.26572271A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26572271A>G Locations: - p.Asn1Ser (Ensembl:ENST00000438977) - c.2A>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs2076256131 | 2 | T>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.59892C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.59892C>G Locations: - p.Thr2Arg (Ensembl:ENST00000629099) - c.5C>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1340418455 | 5 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NW_009646195.1:g.59901A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.59901A>C Locations: - p.Glu5Ala (Ensembl:ENST00000629099) - c.14A>C (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1340418455 | 5 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000001.11:g.26572284G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26572284G>C Locations: - p.Glu5Asp (Ensembl:ENST00000438977) - c.15G>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs752298424 | 7 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.59907C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.59907C>T Locations: - p.Ala7Val (Ensembl:ENST00000629099) - c.20C>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1447746026 | 9 | D>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60843A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60843A>T Locations: - p.Asp9Val (Ensembl:ENST00000629099) - c.26A>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1195660868 | 10 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60846T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60846T>A Locations: - p.Leu10Gln (Ensembl:ENST00000629099) - c.29T>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1218791323 | 12 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NW_009646195.1:g.60852C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60852C>G Locations: - p.Ser12Cys (Ensembl:ENST00000629099) - c.35C>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs779938878 | 12 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573234C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573234C>T Locations: - p.Ser12Phe (Ensembl:ENST00000438977) - c.35C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1218791323 | 12 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60852C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60852C>T Locations: - p.Ser12Phe (Ensembl:ENST00000629099) - c.35C>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1266669401 | 13 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.518) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60854A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60854A>G Locations: - p.Lys13Glu (Ensembl:ENST00000629099) - c.37A>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs751125853 | 13 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.388) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60856G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60856G>T Locations: - p.Lys13Asn (Ensembl:ENST00000629099) - c.39G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1266669401 | 13 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000001.11:g.26573237A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573237A>G Locations: - p.Lys13Arg (Ensembl:ENST00000438977) - c.38A>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs751125853 | 14 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573239A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573239A>T Locations: - p.Met14Leu (Ensembl:ENST00000438977) - c.40A>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1198213895 | 15 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60861T>G Codon: CTA/CGA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60861T>G Locations: - p.Leu15Arg (Ensembl:ENST00000629099) - c.44T>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs80024567 | 16 | H>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60864A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60864A>T Locations: - p.His16Leu (Ensembl:ENST00000629099) - c.47A>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs780609834 | 16 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60865C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60865C>A Locations: - p.His16Gln (Ensembl:ENST00000629099) - c.48C>A (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs780609834 | 17 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573248G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573248G>A Locations: - p.Val17Met (Ensembl:ENST00000438977) - c.49G>A (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs1157234373 | 18 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573251G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573251G>T Locations: - p.Asp18Tyr (Ensembl:ENST00000438977) - c.52G>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs368282746 | 19 | P>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60872C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60872C>G Locations: - p.Pro19Ala (Ensembl:ENST00000629099) - c.55C>G (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs1420676511 | 19 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60873C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60873C>T Locations: - p.Pro19Leu (Ensembl:ENST00000629099) - c.56C>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs368282746 | 19 | P>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573255C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573255C>G Locations: - p.Pro19Arg (Ensembl:ENST00000438977) - c.56C>G (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs1467555231 | 20 | H>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NW_009646195.1:g.60876A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60876A>T Locations: - p.His20Leu (Ensembl:ENST00000629099) - c.59A>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs769437929 | 21 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.421) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60880G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60880G>T Locations: - p.Gln21His (Ensembl:ENST00000629099) - c.63G>T (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs769437929 | 22 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573263C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573263C>T Locations: - p.Arg22Cys (Ensembl:ENST00000438977) - c.64C>T (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs778048097 | 22 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573264G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573264G>A Locations: - p.R22H (NCI-TCGA:ENST00000438977) - p.Arg22His (Ensembl:ENST00000438977) - c.65G>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs778048097 | 22 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573264G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573264G>C Locations: - p.Arg22Pro (Ensembl:ENST00000438977) - c.65G>C (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs778048097 | 22 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60881C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60881C>A Locations: - p.Arg22Ser (Ensembl:ENST00000629099) - c.64C>A (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs1385761210 | 23 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.425) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573266C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573266C>T Locations: - p.Leu23Phe (Ensembl:ENST00000438977) - c.67C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs749631549 | 27 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60898G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60898G>T Locations: - p.Gln27His (Ensembl:ENST00000629099) - c.81G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2076266258 | 28 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60900T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60900T>C Locations: - p.Val28Ala (Ensembl:ENST00000629099) - c.83T>C (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs749631549 | 28 | V>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573281G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573281G>T Locations: - p.Val28Phe (Ensembl:ENST00000438977) - c.82G>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1444039702 | 29 | L>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60903T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60903T>A Locations: - p.Leu29Gln (Ensembl:ENST00000629099) - c.86T>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs771632302 | 30 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000001.11:g.26573289G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573289G>T Locations: - p.Gln30His (Ensembl:ENST00000438977) - c.90G>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs774988036 | 30 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NW_009646195.1:g.60907G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60907G>T Locations: - p.Gln30His (Ensembl:ENST00000629099) - c.90G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs771632302 | 30 | Q>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60906A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60906A>T Locations: - p.Gln30Leu (Ensembl:ENST00000629099) - c.89A>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs774988036 | 31 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573290C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573290C>T Locations: - p.His31Tyr (Ensembl:ENST00000438977) - c.91C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1363450306 | 32 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.472) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NW_009646195.1:g.60912C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60912C>G Locations: - p.Pro32Arg (Ensembl:ENST00000629099) - c.95C>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs760064215 | 33 | W>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NW_009646195.1:g.60916G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NW_009646195.1:g.60916G>A Locations: - p.Trp33Ter (Ensembl:ENST00000629099) - c.99G>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs772282737 | 34 | V>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60918T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60918T>A Locations: - p.Val34Asp (Ensembl:ENST00000629099) - c.101T>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs760064215 | 34 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000001.11:g.26573299G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573299G>A Locations: - p.Val34Ile (Ensembl:ENST00000438977) - c.100G>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs775600827 | 35 | T>A | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000001.11:g.26573302A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573302A>G Locations: - p.Thr35Ala (Ensembl:ENST00000438977) - c.103A>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1304632639 | 37 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NW_009646195.1:g.60927A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60927A>G Locations: - p.Lys37Arg (Ensembl:ENST00000629099) - c.110A>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1355505330 | 39 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NW_009646195.1:g.60932A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60932A>G Locations: - p.Lys39Glu (Ensembl:ENST00000629099) - c.115A>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1355505330 | 39 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000001.11:g.26573315A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573315A>G Locations: - p.Lys39Arg (Ensembl:ENST00000438977) - c.116A>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
COSV65176538 rs2076266580 | 41 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: tolerated - low confidence (0.2) Somatic: Yes Accession: NC_000001.11:g.26573320C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573320C>T Locations: - p.P41S (NCI-TCGA:ENST00000438977) - p.Pro41Ser (Ensembl:ENST00000438977) - c.121C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1209342166 | 42 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.26573323C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573323C>G Locations: - p.Gln42Glu (Ensembl:ENST00000438977) - c.124C>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs145893180 | 42 | Q>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NW_009646195.1:g.60942A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60942A>G Locations: - p.Gln42Arg (Ensembl:ENST00000629099) - c.125A>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1156504247 | 43 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NW_009646195.1:g.60944A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60944A>T Locations: - p.Ser43Cys (Ensembl:ENST00000629099) - c.127A>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2076266725 | 43 | S>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.388) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60945G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60945G>T Locations: - p.Ser43Ile (Ensembl:ENST00000629099) - c.128G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1156504247 | 43 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.388) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573327G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573327G>T Locations: - p.Ser43Ile (Ensembl:ENST00000438977) - c.128G>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1156504247 | 43 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NW_009646195.1:g.60944A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60944A>C Locations: - p.Ser43Arg (Ensembl:ENST00000629099) - c.127A>C (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1156504247 | 43 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.26573327G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573327G>C Locations: - p.Ser43Thr (Ensembl:ENST00000438977) - c.128G>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs2124675346 | 44 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000001.11:g.26573331G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573331G>T Locations: - p.Gln44His (Ensembl:ENST00000438977) - c.132G>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs2124675346 | 44 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60948A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60948A>T Locations: - p.Gln44Leu (Ensembl:ENST00000629099) - c.131A>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2076266754 | 45 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60951T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60951T>A Locations: - p.Leu45Gln (Ensembl:ENST00000629099) - c.134T>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
COSV65177867 rs918527886 | 46 | S>F | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000001.11:g.26573336C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573336C>T Locations: - p.Ser46Phe (Ensembl:ENST00000438977) - c.137C>T (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs1453397392 | 46 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.331) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NW_009646195.1:g.60954C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60954C>A Locations: - p.Ser46Tyr (Ensembl:ENST00000629099) - c.137C>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1177066870 | 47 | H>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60957A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60957A>T Locations: - p.His47Leu (Ensembl:ENST00000629099) - c.140A>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2076266837 | 47 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.26573338C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573338C>T Locations: - p.His47Tyr (Ensembl:ENST00000438977) - c.139C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs2076266889 | 51 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NW_009646195.1:g.60968C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NW_009646195.1:g.60968C>T Locations: - p.Gln51Ter (Ensembl:ENST00000629099) - c.151C>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1440739807 | 51 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NW_009646195.1:g.60970G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60970G>T Locations: - p.Gln51His (Ensembl:ENST00000629099) - c.153G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2076266889 | 51 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573351A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573351A>T Locations: - p.Gln51Leu (Ensembl:ENST00000438977) - c.152A>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1440739807 | 52 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573353C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573353C>T Locations: - p.Leu52Phe (Ensembl:ENST00000438977) - c.154C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs764359092 | 52 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573354T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573354T>C Locations: - p.Leu52Pro (Ensembl:ENST00000438977) - c.155T>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1351556822 | 53 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573356G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573356G>A Locations: - p.Val53Met (Ensembl:ENST00000438977) - c.157G>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs2076267002 | 54 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.60977A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.60977A>G Locations: - p.Lys54Glu (Ensembl:ENST00000629099) - c.160A>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2076267002 | 54 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26573360A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26573360A>G Locations: - p.Lys54Arg (Ensembl:ENST00000438977) - c.161A>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs776922261 | 55 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.576) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574080G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574080G>A Locations: - p.Gly55Glu (Ensembl:ENST00000438977) - c.164G>A (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs1169296919 | 55 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.674) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574079G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574079G>A Locations: - p.Gly55Arg (Ensembl:ENST00000438977) - c.163G>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs776922261 | 55 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.674) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61697G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61697G>A Locations: - p.Gly55Arg (Ensembl:ENST00000629099) - c.163G>A (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs761951863 | 56 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574082G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574082G>T Locations: - p.Ala56Ser (Ensembl:ENST00000438977) - c.166G>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs2124676509 | 57 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61705G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61705G>C Locations: - p.Met57Ile (Ensembl:ENST00000629099) - c.171G>C (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1300709842 | 57 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NW_009646195.1:g.61703A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61703A>C Locations: - p.Met57Leu (Ensembl:ENST00000629099) - c.169A>C (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1300709842 | 57 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574086T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574086T>C Locations: - p.Met57Thr (Ensembl:ENST00000438977) - c.170T>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1181574632 | 57 | M>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000001.11:g.26574085A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574085A>G Locations: - p.Met57Val (Ensembl:ENST00000438977) - c.169A>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs2124676509 | 58 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574088G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574088G>C Locations: - p.Ala58Pro (Ensembl:ENST00000438977) - c.172G>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs201125214 | 60 | T>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61713C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61713C>A Locations: - p.Thr60Lys (Ensembl:ENST00000629099) - c.179C>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
COSV65176897 rs367842246 | 60 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001594 (gnomAD) Accession: NC_000001.11:g.26574095C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574095C>T Locations: - p.T60M (NCI-TCGA:ENST00000438977) - p.Thr60Met (Ensembl:ENST00000438977) - c.179C>T (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs367842246 | 60 | T>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61712A>T Codon: ACG/TCG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61712A>T Locations: - p.Thr60Ser (Ensembl:ENST00000629099) - c.178A>T (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs144389719 | 62 | S>F | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NW_009646195.1:g.61719C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61719C>T Locations: - p.Ser62Phe (Ensembl:ENST00000629099) - c.185C>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs752215544 | 63 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61722C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61722C>G Locations: - p.Ala63Gly (Ensembl:ENST00000629099) - c.188C>G (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs2076275063 | 63 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574104C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574104C>G Locations: - p.Ala63Gly (Ensembl:ENST00000438977) - c.188C>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs767456589 | 63 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574103G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574103G>C Locations: - p.Ala63Pro (Ensembl:ENST00000438977) - c.187G>C (Ensembl:ENST00000438977) Source type: large scale study | |||||||
COSV65177985 rs767456589 | 63 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001195 (gnomAD) Accession: NC_000001.11:g.26574103G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574103G>A Locations: - p.A63T (NCI-TCGA:ENST00000438977) - p.Ala63Thr (Ensembl:ENST00000438977) - c.187G>A (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs752215544 | 63 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.837) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NW_009646195.1:g.61722C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61722C>T Locations: - p.Ala63Val (Ensembl:ENST00000629099) - c.188C>T (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs1277578498 | 64 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574106C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574106C>T Locations: - p.Leu64Phe (Ensembl:ENST00000438977) - c.190C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs755636493 | 65 | N>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NW_009646195.1:g.61727A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61727A>G Locations: - p.Asn65Asp (Ensembl:ENST00000629099) - c.193A>G (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs2076275222 | 65 | N>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61728A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61728A>T Locations: - p.Asn65Ile (Ensembl:ENST00000629099) - c.194A>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs755636493 | 65 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000001.11:g.26574110A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574110A>G Locations: - p.Asn65Ser (Ensembl:ENST00000438977) - c.194A>G (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs2076275357 | 66 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61731G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61731G>T Locations: - p.Ser66Ile (Ensembl:ENST00000629099) - c.197G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1483158021 | 66 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NW_009646195.1:g.61732C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61732C>G Locations: - p.Ser66Arg (Ensembl:ENST00000629099) - c.198C>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs763455950 | 66 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000001.11:g.26574112A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574112A>C Locations: - p.Ser66Arg (Ensembl:ENST00000438977) - c.196A>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs753545251 | 66 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NW_009646195.1:g.61730A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61730A>C Locations: - p.Ser66Arg (Ensembl:ENST00000629099) - c.196A>C (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs753545251 | 66 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000001.11:g.26574113G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574113G>C Locations: - p.Ser66Thr (Ensembl:ENST00000438977) - c.197G>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1483158021 | 67 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000001.11:g.26574115T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574115T>G Locations: - p.Ser67Ala (Ensembl:ENST00000438977) - c.199T>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs2076275412 | 67 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61734C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61734C>T Locations: - p.Ser67Phe (Ensembl:ENST00000629099) - c.200C>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1201358764 | 68 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NW_009646195.1:g.61736A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61736A>C Locations: - p.Lys68Gln (Ensembl:ENST00000629099) - c.202A>C (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1201358764 | 68 | K>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000001.11:g.26574119A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574119A>C Locations: - p.Lys68Thr (Ensembl:ENST00000438977) - c.203A>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1570469675 | 69 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574121C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574121C>A Locations: - p.Pro69Thr (Ensembl:ENST00000438977) - c.205C>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1570469682 | 70 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000001.11:g.26574124A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574124A>G Locations: - p.Thr70Ala (Ensembl:ENST00000438977) - c.208A>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs756931289 | 70 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.26574125C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574125C>T Locations: - p.Thr70Ile (Ensembl:ENST00000438977) - c.209C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs756931289 | 70 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574125C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574125C>A Locations: - p.Thr70Asn (Ensembl:ENST00000438977) - c.209C>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
COSV65176628 rs1570469682 | 70 | T>P | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.17) Somatic: Yes Accession: NC_000001.11:g.26574124A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574124A>C Locations: - p.Thr70Pro (Ensembl:ENST00000438977) - c.208A>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs756931289 | 70 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NW_009646195.1:g.61742A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61742A>T Locations: - p.Thr70Ser (Ensembl:ENST00000629099) - c.208A>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs779444095 | 71 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61745C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61745C>G Locations: - p.Pro71Ala (Ensembl:ENST00000629099) - c.211C>G (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs2229713 | 71 | P>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61746C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61746C>A Locations: - p.Pro71His (Ensembl:ENST00000629099) - c.212C>A (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs2229713 | 71 | P>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.529) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61746C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61746C>G Locations: - p.Pro71Arg (Ensembl:ENST00000629099) - c.212C>G (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs779444095 | 71 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.529) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574128C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574128C>G Locations: - p.Pro71Arg (Ensembl:ENST00000438977) - c.212C>G (Ensembl:ENST00000438977) Source type: large scale study | |||||||
COSV65176304 rs922297352 | 71 | P>S | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000001.11:g.26574127C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574127C>T Locations: - p.Pro71Ser (Ensembl:ENST00000438977) - c.211C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs922297352 | 71 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.576) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574127C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574127C>A Locations: - p.Pro71Thr (Ensembl:ENST00000438977) - c.211C>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
COSV107477975 rs559733751 | 72 | Q>* | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.26574130C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574130C>T Locations: - p.Gln72Ter (Ensembl:ENST00000438977) - c.214C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs559733751 | 72 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.62) Somatic: No Accession: NC_000001.11:g.26574130C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574130C>G Locations: - p.Gln72Glu (Ensembl:ENST00000438977) - c.214C>G (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs768781742 | 72 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NW_009646195.1:g.61750G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61750G>T Locations: - p.Gln72His (Ensembl:ENST00000629099) - c.216G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs559733751 | 72 | Q>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000001.11:g.26574130C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574130C>A Locations: - p.Gln72Lys (Ensembl:ENST00000438977) - c.214C>A (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs2076275800 | 72 | Q>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574131A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574131A>C Locations: - p.Gln72Pro (Ensembl:ENST00000438977) - c.215A>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs768781742 | 73 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574133C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574133C>G Locations: - p.Leu73Val (Ensembl:ENST00000438977) - c.217C>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs748389071 | 74 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574138G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574138G>C Locations: - p.Lys74Asn (Ensembl:ENST00000438977) - c.222G>C (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs748389071 | 74 | K>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61755A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61755A>C Locations: - p.Lys74Thr (Ensembl:ENST00000629099) - c.221A>C (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs1304319911 | 75 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61758C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61758C>T Locations: - p.Pro75Leu (Ensembl:ENST00000629099) - c.224C>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs769980803 | 76 | I>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61761T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61761T>A Locations: - p.Ile76Asn (Ensembl:ENST00000629099) - c.227T>A (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs529084159 | 77 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000001.11:g.26574145G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574145G>A Locations: - p.Glu77Lys (Ensembl:ENST00000438977) - c.229G>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs529084159 | 77 | E>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000001.11:g.26574145G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574145G>C Locations: - p.Glu77Gln (Ensembl:ENST00000438977) - c.229G>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs759321221 | 81 | L>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61776T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61776T>A Locations: - p.Leu81Gln (Ensembl:ENST00000629099) - c.242T>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2076276094 | 83 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.26574163C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574163C>T Locations: - p.Gln83Ter (Ensembl:ENST00000438977) - c.247C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs767412087 | 83 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61783G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61783G>T Locations: - p.Gln83His (Ensembl:ENST00000629099) - c.249G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs775512830 | 84 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574167G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574167G>T Locations: - p.Arg84Leu (Ensembl:ENST00000438977) - c.251G>T (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs775512830 | 84 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574167G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574167G>A Locations: - p.Arg84Gln (Ensembl:ENST00000438977) - c.251G>A (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs775512830 | 84 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61784C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61784C>T Locations: - p.Arg84Trp (Ensembl:ENST00000629099) - c.250C>T (Ensembl:ENST00000629099) Source type: large scale study | |||||||
COSV65176200 rs767412087 | 84 | R>W | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000001.11:g.26574166C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574166C>T Locations: - p.Arg84Trp (Ensembl:ENST00000438977) - c.250C>T (Ensembl:ENST00000438977) Source type: large scale study | |||||||
COSV65176367 rs1299522537 | 85 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000001.11:g.26574170G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574170G>A Locations: - p.R85Q (NCI-TCGA:ENST00000438977) - p.Arg85Gln (Ensembl:ENST00000438977) - c.254G>A (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs763692710 | 87 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000001.11:g.26574176G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574176G>A Locations: - p.R87K (NCI-TCGA:ENST00000438977) - p.Arg87Lys (Ensembl:ENST00000438977) - c.260G>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1487597422 | 89 | L>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NW_009646195.1:g.61800T>A Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NW_009646195.1:g.61800T>A Locations: - p.Leu89Ter (Ensembl:ENST00000629099) - c.266T>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs753351089 | 89 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.761) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NW_009646195.1:g.61801G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61801G>T Locations: - p.Leu89Phe (Ensembl:ENST00000629099) - c.267G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs757022971 | 90 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574185C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574185C>T Locations: - p.Pro90Leu (Ensembl:ENST00000438977) - c.269C>T (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs757022971 | 90 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.342) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574185C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574185C>A Locations: - p.Pro90Gln (Ensembl:ENST00000438977) - c.269C>A (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs2076276374 | 90 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61803C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61803C>G Locations: - p.Pro90Arg (Ensembl:ENST00000629099) - c.269C>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs753351089 | 90 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000001.11:g.26574184C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574184C>T Locations: - p.Pro90Ser (Ensembl:ENST00000438977) - c.268C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs757022971 | 90 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NW_009646195.1:g.61802C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61802C>T Locations: - p.Pro90Ser (Ensembl:ENST00000629099) - c.268C>T (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs757022971 | 90 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NW_009646195.1:g.61802C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61802C>A Locations: - p.Pro90Thr (Ensembl:ENST00000629099) - c.268C>A (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs2076276403 | 91 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61806C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61806C>T Locations: - p.Ser91Phe (Ensembl:ENST00000629099) - c.272C>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2124676727 | 92 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61808A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61808A>G Locations: - p.Thr92Ala (Ensembl:ENST00000629099) - c.274A>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1486583804 | 92 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61809C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61809C>T Locations: - p.Thr92Ile (Ensembl:ENST00000629099) - c.275C>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2124676727 | 92 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.835) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574191C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574191C>G Locations: - p.Thr92Ser (Ensembl:ENST00000438977) - c.275C>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1049253429 | 93 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.9) Somatic: No Accession: NW_009646195.1:g.61812C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61812C>G Locations: - p.Thr93Ser (Ensembl:ENST00000629099) - c.278C>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1188906980 | 94 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61815T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61815T>C Locations: - p.Leu94Pro (Ensembl:ENST00000629099) - c.281T>C (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1188906980 | 94 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61815T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61815T>A Locations: - p.Leu94Gln (Ensembl:ENST00000629099) - c.281T>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs760686788 | 95 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.26574380G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574380G>A Locations: - p.Met95Ile (Ensembl:ENST00000438977) - c.285G>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs768457197 | 95 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NW_009646195.1:g.61998G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61998G>T Locations: - p.Met95Ile (Ensembl:ENST00000629099) - c.285G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs760686788 | 95 | M>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.61997T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.61997T>A Locations: - p.Met95Lys (Ensembl:ENST00000629099) - c.284T>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2076278258 | 95 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.26574378A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574378A>G Locations: - p.Met95Val (Ensembl:ENST00000438977) - c.283A>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs111709494 | 96 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NW_009646195.1:g.62001C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62001C>G Locations: - p.Asp96Glu (Ensembl:ENST00000629099) - c.288C>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs768457197 | 96 | D>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000001.11:g.26574381G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574381G>T Locations: - p.Asp96Tyr (Ensembl:ENST00000438977) - c.286G>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs111709494 | 97 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000001.11:g.26574384T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574384T>G Locations: - p.Ser97Ala (Ensembl:ENST00000438977) - c.289T>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs776324092 | 98 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000001.11:g.26574388C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574388C>T Locations: - p.Ser98Phe (Ensembl:ENST00000438977) - c.293C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs372547001 | 99 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000001.11:g.26574391G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574391G>T Locations: - p.Arg99Leu (Ensembl:ENST00000438977) - c.296G>T (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs372547001 | 99 | R>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000001.11:g.26574391G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574391G>C Locations: - p.Arg99Pro (Ensembl:ENST00000438977) - c.296G>C (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs372547001 | 99 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000001.11:g.26574391G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574391G>A Locations: - p.Arg99Gln (Ensembl:ENST00000438977) - c.296G>A (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs372547001 | 99 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NW_009646195.1:g.62008C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62008C>T Locations: - p.Arg99Trp (Ensembl:ENST00000629099) - c.295C>T (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs1374897764 | 99 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000001.11:g.26574390C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574390C>T Locations: - p.Arg99Trp (Ensembl:ENST00000438977) - c.295C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs765045089 | 101 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.26574396A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574396A>G Locations: - p.Arg101Gly (Ensembl:ENST00000438977) - c.301A>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1570470173 | 101 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.9) Somatic: No Accession: NC_000001.11:g.26574397G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574397G>A Locations: - p.Arg101Lys (Ensembl:ENST00000438977) - c.302G>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1227169309 | 101 | R>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.62015G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62015G>T Locations: - p.Arg101Met (Ensembl:ENST00000629099) - c.302G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1227169309 | 101 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.26574398G>T, NC_000001.11:g.26574398G>C Codon: AGG/AGT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574398G>T, NC_000001.11:g.26574398G>C Locations: - p.Arg101Ser (Ensembl:ENST00000438977) - c.303G>T (Ensembl:ENST00000438977) - c.303G>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1227169309 | 101 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NW_009646195.1:g.62015G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62015G>C Locations: - p.Arg101Thr (Ensembl:ENST00000629099) - c.302G>C (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1322949552 | 102 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.62018T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62018T>G Locations: - p.Leu102Arg (Ensembl:ENST00000629099) - c.305T>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2076278593 | 103 | C>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NW_009646195.1:g.62021G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62021G>T Locations: - p.Cys103Phe (Ensembl:ENST00000629099) - c.308G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1570470189 | 103 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NW_009646195.1:g.62020T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62020T>A Locations: - p.Cys103Ser (Ensembl:ENST00000629099) - c.307T>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs1570470189 | 103 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000001.11:g.26574403G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574403G>A Locations: - p.Cys103Tyr (Ensembl:ENST00000438977) - c.308G>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs377553777 | 104 | W>* | ESP gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NW_009646195.1:g.62024G>A, NC_000001.11:g.26574407G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 1p36.11 Genomic location: NW_009646195.1:g.62024G>A, NC_000001.11:g.26574407G>A Locations: - p.Trp104Ter (Ensembl:ENST00000629099) - c.311G>A (Ensembl:ENST00000629099) - p.Trp104Ter (Ensembl:ENST00000438977) - c.312G>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1289771861 | 104 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574405T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574405T>C Locations: - p.Trp104Arg (Ensembl:ENST00000438977) - c.310T>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1214987697 | 105 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NW_009646195.1:g.62027G>A, NC_000001.11:g.26574410G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 1p36.11 Genomic location: NW_009646195.1:g.62027G>A, NC_000001.11:g.26574410G>A Locations: - p.Trp105Ter (Ensembl:ENST00000629099) - c.314G>A (Ensembl:ENST00000629099) - p.Trp105Ter (Ensembl:ENST00000438977) - c.315G>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1214987697 | 105 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574410G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574410G>T Locations: - p.Trp105Cys (Ensembl:ENST00000438977) - c.315G>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1214987697 | 105 | W>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NW_009646195.1:g.62027G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62027G>T Locations: - p.Trp105Leu (Ensembl:ENST00000629099) - c.314G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs762469570 | 107 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.62033C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62033C>A Locations: - p.Ala107Glu (Ensembl:ENST00000629099) - c.320C>A (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs573306741 | 107 | A>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NW_009646195.1:g.62032G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62032G>T Locations: - p.Ala107Ser (Ensembl:ENST00000629099) - c.319G>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs573306741 | 107 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.26574415C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574415C>T Locations: - p.Ala107Val (Ensembl:ENST00000438977) - c.320C>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs762469570 | 107 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NW_009646195.1:g.62033C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62033C>T Locations: - p.Ala107Val (Ensembl:ENST00000629099) - c.320C>T (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs2076278758 | 108 | I>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000001.11:g.26574417A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574417A>T Locations: - p.Ile108Phe (Ensembl:ENST00000438977) - c.322A>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1570470231 | 108 | I>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000001.11:g.26574418T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574418T>A Locations: - p.Ile108Asn (Ensembl:ENST00000438977) - c.323T>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs766786231 | 109 | H>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NW_009646195.1:g.62038C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62038C>G Locations: - p.His109Asp (Ensembl:ENST00000629099) - c.325C>G (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs1234330703 | 109 | H>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.62039A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62039A>T Locations: - p.His109Leu (Ensembl:ENST00000629099) - c.326A>T (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs751845077 | 109 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NW_009646195.1:g.62040C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62040C>A Locations: - p.His109Gln (Ensembl:ENST00000629099) - c.327C>A (Ensembl:ENST00000629099) Source type: large scale study | |||||||
rs766786231 | 109 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000001.11:g.26574421A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574421A>G Locations: - p.His109Arg (Ensembl:ENST00000438977) - c.326A>G (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs1414401259 | 110 | C>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.26574425T>A Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574425T>A Locations: - p.Cys110Ter (Ensembl:ENST00000438977) - c.330T>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs755547404 | 110 | C>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NW_009646195.1:g.62041T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62041T>C Locations: - p.Cys110Arg (Ensembl:ENST00000629099) - c.328T>C (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs755547404 | 110 | C>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NW_009646195.1:g.62041T>A, NC_000001.11:g.26574424G>C Codon: TGT/AGT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NW_009646195.1:g.62041T>A, NC_000001.11:g.26574424G>C Locations: - p.Cys110Ser (Ensembl:ENST00000629099) - c.328T>A (Ensembl:ENST00000629099) - p.Cys110Ser (Ensembl:ENST00000438977) - c.329G>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs751845077 | 110 | C>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000001.11:g.26574423T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574423T>A Locations: - p.Cys110Ser (Ensembl:ENST00000438977) - c.328T>A (Ensembl:ENST00000438977) Source type: large scale study | |||||||
rs1414401259 | 110 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NW_009646195.1:g.62042G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62042G>C Locations: - p.Cys110Ser (Ensembl:ENST00000629099) - c.329G>C (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs781660914 | 110 | C>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NW_009646195.1:g.62043T>G Codon: TGT/TGG Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62043T>G Locations: - p.Cys110Trp (Ensembl:ENST00000629099) - c.330T>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs755547404 | 110 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000001.11:g.26574424G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574424G>A Locations: - p.Cys110Tyr (Ensembl:ENST00000438977) - c.329G>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1414401259 | 110 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NW_009646195.1:g.62042G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62042G>A Locations: - p.Cys110Tyr (Ensembl:ENST00000629099) - c.329G>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs781660914 | 111 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574426A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574426A>G Locations: - p.Ile111Val (Ensembl:ENST00000438977) - c.331A>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs2076278982 | 112 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.62047A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62047A>G Locations: - p.Asn112Asp (Ensembl:ENST00000629099) - c.334A>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs12118436 | 112 | N>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574429A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574429A>C Locations: - p.Asn112His (Ensembl:ENST00000438977) - c.334A>C (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs2076278982 | 112 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574430A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574430A>G Locations: - p.Asn112Ser (Ensembl:ENST00000438977) - c.335A>G (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs12118436 | 112 | N>Y | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.26574429A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574429A>T Locations: - p.Asn112Tyr (Ensembl:ENST00000438977) - c.334A>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs1398389378 | 114 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NW_009646195.1:g.62054T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62054T>C Locations: - p.Phe114Ser (Ensembl:ENST00000629099) - c.341T>C (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs751286481 | 115 | L>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.26574439T>A Codon: TTA/TAA Consequence type: stop gained Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574439T>A Locations: - p.Leu115Ter (Ensembl:ENST00000438977) - c.344T>A (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs2076279103 | 115 | L>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NW_009646195.1:g.62057T>G Codon: TTA/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NW_009646195.1:g.62057T>G Locations: - p.Leu115Ter (Ensembl:ENST00000629099) - c.344T>G (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs751286481 | 115 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NW_009646195.1:g.62056T>A Codon: TTA/ATA Consequence type: missense Cytogenetic band: Genomic location: NW_009646195.1:g.62056T>A Locations: - p.Leu115Ile (Ensembl:ENST00000629099) - c.343T>A (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2076279127 | 116 | *>G | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NW_009646195.1:g.62059delinsGG Codon: TGA/GGGA Consequence type: stop lost Cytogenetic band: Genomic location: NW_009646195.1:g.62059delinsGG Locations: - p.Ter116GlyfsTer32 (Ensembl:ENST00000629099) - c.346delinsGG (Ensembl:ENST00000629099) Source type: large scale study Cross-references: | |||||||
rs2124677160 | 116 | *>L | Ensembl | ||||
Consequence: stop lost Somatic: No Accession: NC_000001.11:g.26574442G>T Codon: TGA/TTA Consequence type: stop lost Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574442G>T Locations: - p.Ter116LeuextTer78 (Ensembl:ENST00000438977) - c.347G>T (Ensembl:ENST00000438977) Source type: large scale study Cross-references: | |||||||
rs2076279127 | 116 | *>W | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000001.11:g.26574442dup Codon: TGA/TGGA Consequence type: stop lost Cytogenetic band: 1p36.11 Genomic location: NC_000001.11:g.26574442dup Locations: - p.Ter116TrpfsTer32 (Ensembl:ENST00000438977) - c.347dup (Ensembl:ENST00000438977) Source type: large scale study Cross-references: |