I3L300 · I3L300_HUMAN
- ProteinAdenylate cyclase 9
- GeneADCY9
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids215 (go to sequence)
- Protein existencePredicted
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs2056221415 | 2 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.282) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.3988997T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3988997T>G Locations: - p.Glu2Asp (Ensembl:ENST00000576936) - c.6A>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056221367 | 3 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3988995T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3988995T>C Locations: - p.Glu3Gly (Ensembl:ENST00000576936) - c.8A>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs774854321 | 3 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3988996C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3988996C>T Locations: - p.Glu3Lys (Ensembl:ENST00000576936) - c.7G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs751329610 | 4 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983440C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983440C>T Locations: - p.Val4Ile (Ensembl:ENST00000576936) - c.10G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs760570249 | 5 | I>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000016.10:g.3983436A>T Codon: ATA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983436A>T Locations: - p.Ile5Lys (Ensembl:ENST00000576936) - c.14T>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs760570249 | 5 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000016.10:g.3983436A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983436A>G Locations: - p.Ile5Thr (Ensembl:ENST00000576936) - c.14T>C (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs768361177 | 5 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000016.10:g.3983437T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983437T>C Locations: - p.Ile5Val (Ensembl:ENST00000576936) - c.13A>G (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs2056163193 | 6 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000016.10:g.3983434T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983434T>C Locations: - p.Lys6Glu (Ensembl:ENST00000576936) - c.16A>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1438743877 | 7 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.3983429G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983429G>C Locations: - p.Asn7Lys (Ensembl:ENST00000576936) - c.21C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056163157 | 7 | N>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.3983430T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983430T>G Locations: - p.Asn7Thr (Ensembl:ENST00000576936) - c.20A>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
COSV53573473 rs1367661195 | 8 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.471) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000004323 (gnomAD) Accession: NC_000016.10:g.3983427G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983427G>A Locations: - p.S8F (NCI-TCGA:ENST00000576936) - p.Ser8Phe (Ensembl:ENST00000576936) - c.23C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1367661195 | 8 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.568) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983427G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983427G>T Locations: - p.Ser8Tyr (Ensembl:ENST00000576936) - c.23C>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1434109826 | 9 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.31) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000016.10:g.3983425G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983425G>C Locations: - p.Pro9Ala (Ensembl:ENST00000576936) - c.25C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1386171256 | 9 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3983424G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983424G>A Locations: - p.P9L (NCI-TCGA:ENST00000576936) - p.Pro9Leu (Ensembl:ENST00000576936) - c.26C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1386171256 | 9 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3983424G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983424G>C Locations: - p.Pro9Arg (Ensembl:ENST00000576936) - c.26C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1434109826 | 9 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.531) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.3983425G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983425G>A Locations: - p.Pro9Ser (Ensembl:ENST00000576936) - c.25C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs374735605 | 10 | V>M | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3983422C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983422C>T Locations: - p.Val10Met (Ensembl:ENST00000576936) - c.28G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs748969774 | 12 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983416T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983416T>C Locations: - p.Thr12Ala (Ensembl:ENST00000576936) - c.34A>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1170328809 | 12 | T>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3983415G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983415G>A Locations: - p.Thr12Met (Ensembl:ENST00000576936) - c.35C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056162760 | 13 | F>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983412A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983412A>C Locations: - p.Phe13Cys (Ensembl:ENST00000576936) - c.38T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1421051771 | 15 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3983406C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983406C>T Locations: - p.Ser15Asn (Ensembl:ENST00000576936) - c.44G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1187522586 | 17 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.664) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983401T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983401T>C Locations: - p.Thr17Ala (Ensembl:ENST00000576936) - c.49A>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1435893894 | 18 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983397A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983397A>G Locations: - p.Phe18Ser (Ensembl:ENST00000576936) - c.53T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1212916667 | 19 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3983395T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983395T>C Locations: - p.Ser19Gly (Ensembl:ENST00000576936) - c.55A>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1313318580 | 19 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983394C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983394C>A Locations: - p.Ser19Ile (Ensembl:ENST00000576936) - c.56G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1313318580 | 19 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983394C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983394C>G Locations: - p.Ser19Thr (Ensembl:ENST00000576936) - c.56G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs922260415 | 20 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983391G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983391G>A Locations: - p.Ser20Phe (Ensembl:ENST00000576936) - c.59C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1567422183 | 21 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3983389G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983389G>A Locations: - p.Leu21Phe (Ensembl:ENST00000576936) - c.61C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs759028302 | 23 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983383C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983383C>G Locations: - p.Asp23His (Ensembl:ENST00000576936) - c.67G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs759028302 | 23 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983383C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983383C>T Locations: - p.Asp23Asn (Ensembl:ENST00000576936) - c.67G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs759028302 | 23 | D>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983383C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983383C>A Locations: - p.Asp23Tyr (Ensembl:ENST00000576936) - c.67G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1221654127 | 27 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.841) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3983371A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983371A>G Locations: - p.Ser27Pro (Ensembl:ENST00000576936) - c.79T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1221654127 | 27 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.259) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3983371A>T Codon: TCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983371A>T Locations: - p.Ser27Thr (Ensembl:ENST00000576936) - c.79T>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056162123 | 29 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000016.10:g.3983365T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983365T>C Locations: - p.Thr29Ala (Ensembl:ENST00000576936) - c.85A>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1448423965 | 30 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983362C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983362C>A Locations: - p.Val30Leu (Ensembl:ENST00000576936) - c.88G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs753842503 | 33 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3983352G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983352G>A Locations: - p.Thr33Met (Ensembl:ENST00000576936) - c.98C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs2056162008 | 35 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983346G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983346G>A Locations: - p.Ser35Phe (Ensembl:ENST00000576936) - c.104C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1597143694 | 36 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983344T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983344T>G Locations: - p.Thr36Pro (Ensembl:ENST00000576936) - c.106A>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1167617329 | 38 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983338A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983338A>G Locations: - p.Cys38Arg (Ensembl:ENST00000576936) - c.112T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056161886 | 38 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.836) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3983337C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983337C>G Locations: - p.Cys38Ser (Ensembl:ENST00000576936) - c.113G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056161886 | 38 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983337C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983337C>T Locations: - p.Cys38Tyr (Ensembl:ENST00000576936) - c.113G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1183996465 | 40 | L>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983331A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983331A>T Locations: - p.Leu40Gln (Ensembl:ENST00000576936) - c.119T>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs985777337 | 41 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.3983329T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983329T>C Locations: - p.Lys41Glu (Ensembl:ENST00000576936) - c.121A>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1481740999 | 41 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000016.10:g.3983328T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983328T>C Locations: - p.Lys41Arg (Ensembl:ENST00000576936) - c.122A>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs201102758 | 42 | Y>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.3983325T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983325T>C Locations: - p.Tyr42Cys (Ensembl:ENST00000576936) - c.125A>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs186527865 | 43 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.94) Somatic: No Accession: NC_000016.10:g.3983323C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983323C>T Locations: - p.Glu43Lys (Ensembl:ENST00000576936) - c.127G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs186527865 | 43 | E>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000016.10:g.3983323C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983323C>G Locations: - p.Glu43Gln (Ensembl:ENST00000576936) - c.127G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1352626603 | 44 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000016.10:g.3983320C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983320C>A Locations: - p.Ala44Ser (Ensembl:ENST00000576936) - c.130G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs372048350 | 44 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3983319G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983319G>A Locations: - p.Ala44Val (Ensembl:ENST00000576936) - c.131C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1228010830 | 45 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3983317C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983317C>T Locations: - p.Ala45Thr (Ensembl:ENST00000576936) - c.133G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
COSV99570865 rs1306009113 | 45 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Population frequencies: - MAF: 0.00001091 (gnomAD) Accession: NC_000016.10:g.3983316G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983316G>A Locations: - p.A45V (NCI-TCGA:ENST00000576936) - p.Ala45Val (Ensembl:ENST00000576936) - c.134C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs777113575 | 46 | T>A | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.83) Somatic: No Accession: NC_000016.10:g.3983314T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983314T>C Locations: - p.Thr46Ala (Ensembl:ENST00000576936) - c.136A>G (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs777113575 | 46 | T>P | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000016.10:g.3983314T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983314T>G Locations: - p.Thr46Pro (Ensembl:ENST00000576936) - c.136A>C (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs2056161354 | 46 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.81) Somatic: No Accession: NC_000016.10:g.3983313G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983313G>C Locations: - p.Thr46Ser (Ensembl:ENST00000576936) - c.137C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs145223924 | 47 | V>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000016.10:g.3983311C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983311C>G Locations: - p.Val47Leu (Ensembl:ENST00000576936) - c.139G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs145223924 | 47 | V>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000016.10:g.3983311C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983311C>T Locations: - p.Val47Met (Ensembl:ENST00000576936) - c.139G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1002199492 | 49 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3983304G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983304G>T Locations: - p.Pro49His (Ensembl:ENST00000576936) - c.146C>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1002199492 | 49 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3983304G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983304G>C Locations: - p.Pro49Arg (Ensembl:ENST00000576936) - c.146C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs750993435 | 49 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.3983305G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983305G>A Locations: - p.Pro49Ser (Ensembl:ENST00000576936) - c.145C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs750993435 | 49 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.3983305G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983305G>T Locations: - p.Pro49Thr (Ensembl:ENST00000576936) - c.145C>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs367822989 | 50 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.3983301G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983301G>A Locations: - p.Pro50Leu (Ensembl:ENST00000576936) - c.149C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs2056161116 | 51 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.206) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.3983299G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983299G>A Locations: - p.Pro51Ser (Ensembl:ENST00000576936) - c.151C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs764068928 | 52 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000016.10:g.3983296C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983296C>G Locations: - p.Ala52Pro (Ensembl:ENST00000576936) - c.154G>C (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs764068928 | 52 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.3983296C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983296C>T Locations: - p.Ala52Thr (Ensembl:ENST00000576936) - c.154G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs767330823 | 53 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.432) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3983292G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983292G>C Locations: - p.Ala53Gly (Ensembl:ENST00000576936) - c.158C>G (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs752796119 | 53 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.3983293C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983293C>A Locations: - p.Ala53Ser (Ensembl:ENST00000576936) - c.157G>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs752796119 | 53 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.3983293C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983293C>T Locations: - p.Ala53Thr (Ensembl:ENST00000576936) - c.157G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs767330823 | 53 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.3983292G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983292G>A Locations: - p.Ala53Val (Ensembl:ENST00000576936) - c.158C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs558610583 | 55 | A>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000016.10:g.3983286G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983286G>C Locations: - p.Ala55Gly (Ensembl:ENST00000576936) - c.164C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056160906 | 55 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000016.10:g.3983287C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983287C>A Locations: - p.Ala55Ser (Ensembl:ENST00000576936) - c.163G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056160906 | 55 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000016.10:g.3983287C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983287C>T Locations: - p.Ala55Thr (Ensembl:ENST00000576936) - c.163G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs558610583 | 55 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.79) Somatic: No Accession: NC_000016.10:g.3983286G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983286G>A Locations: - p.Ala55Val (Ensembl:ENST00000576936) - c.164C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056160836 | 56 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.3983284C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983284C>T Locations: - p.Val56Ile (Ensembl:ENST00000576936) - c.166G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs766342969 | 58 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3983277C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983277C>T Locations: - p.Ser58Asn (Ensembl:ENST00000576936) - c.173G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs766342969 | 58 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000016.10:g.3983277C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983277C>G Locations: - p.Ser58Thr (Ensembl:ENST00000576936) - c.173G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056160721 | 59 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.3983274G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983274G>C Locations: - p.Ala59Gly (Ensembl:ENST00000576936) - c.176C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs777128676 | 59 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000016.10:g.3983275C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983275C>T Locations: - p.Ala59Thr (Ensembl:ENST00000576936) - c.175G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1046996697 | 60 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3983272C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983272C>A Locations: - p.Ala60Ser (Ensembl:ENST00000576936) - c.178G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1291186470 | 60 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.351) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3983271G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983271G>A Locations: - p.Ala60Val (Ensembl:ENST00000576936) - c.179C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056160606 | 61 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000016.10:g.3983269G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983269G>C Locations: - p.Leu61Val (Ensembl:ENST00000576936) - c.181C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs929877484 | 63 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983263G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983263G>T Locations: - p.Leu63Met (Ensembl:ENST00000576936) - c.187C>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs929877484 | 63 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.771) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3983263G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983263G>C Locations: - p.Leu63Val (Ensembl:ENST00000576936) - c.187C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs922314244 | 64 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3983260C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983260C>A Locations: - p.Glu64Ter (Ensembl:ENST00000576936) - c.190G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs922314244 | 64 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.79) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3983260C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983260C>T Locations: - p.Glu64Lys (Ensembl:ENST00000576936) - c.190G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs922314244 | 64 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.3983260C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983260C>G Locations: - p.Glu64Gln (Ensembl:ENST00000576936) - c.190G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1597143538 | 65 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000016.10:g.3983256A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983256A>G Locations: - p.Val65Ala (Ensembl:ENST00000576936) - c.194T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1597143538 | 65 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.3983256A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983256A>C Locations: - p.Val65Gly (Ensembl:ENST00000576936) - c.194T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1293822996 | 65 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.97) Somatic: No Accession: NC_000016.10:g.3983257C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983257C>A Locations: - p.Val65Leu (Ensembl:ENST00000576936) - c.193G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1293822996 | 65 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.3983257C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983257C>T Locations: - p.Val65Met (Ensembl:ENST00000576936) - c.193G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs766810277 | 66 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3983253A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983253A>G Locations: - p.Leu66Pro (Ensembl:ENST00000576936) - c.197T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056160276 | 67 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.882) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3983250G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983250G>C Locations: - p.Ser67Cys (Ensembl:ENST00000576936) - c.200C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1459120707 | 68 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983248G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983248G>A Locations: - p.Leu68Phe (Ensembl:ENST00000576936) - c.202C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1417470406 | 69 | A>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.3983244G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983244G>T Locations: - p.Ala69Glu (Ensembl:ENST00000576936) - c.206C>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1181701464 | 69 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.193) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3983245C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983245C>G Locations: - p.Ala69Pro (Ensembl:ENST00000576936) - c.205G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1181701464 | 69 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.3983245C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983245C>T Locations: - p.Ala69Thr (Ensembl:ENST00000576936) - c.205G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1417470406 | 69 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3983244G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983244G>A Locations: - p.Ala69Val (Ensembl:ENST00000576936) - c.206C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs776102254 | 72 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.678) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983234G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983234G>C Locations: - p.Ile72Met (Ensembl:ENST00000576936) - c.216C>G (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs2056159965 | 73 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3983232C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983232C>G Locations: - p.Arg73Thr (Ensembl:ENST00000576936) - c.218G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs187903829 | 75 | V>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3979270A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979270A>G Locations: - p.Val75Ala (Ensembl:ENST00000576936) - c.224T>C (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs2056120168 | 75 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979271C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979271C>T Locations: - p.Val75Met (Ensembl:ENST00000576936) - c.223G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1186780237 | 76 | F>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.618) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979267A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979267A>T Locations: - p.Phe76Tyr (Ensembl:ENST00000576936) - c.227T>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs900818550 | 78 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.776) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3979262G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979262G>C Locations: - p.Leu78Val (Ensembl:ENST00000576936) - c.232C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1450302468 | 80 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.3979255T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979255T>G Locations: - p.Asp80Ala (Ensembl:ENST00000576936) - c.239A>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs375674603 | 81 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001594 (gnomAD) Accession: NC_000016.10:g.3979253C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979253C>T Locations: - p.V81I (NCI-TCGA:ENST00000576936) - p.Val81Ile (Ensembl:ENST00000576936) - c.241G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs766162854 | 83 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.538) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000016.10:g.3979247C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979247C>G Locations: - p.Ala83Pro (Ensembl:ENST00000576936) - c.247G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs758085762 | 84 | C>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3979243C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979243C>A Locations: - p.Cys84Phe (Ensembl:ENST00000576936) - c.251G>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs758085762 | 84 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3979243C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979243C>T Locations: - p.Cys84Tyr (Ensembl:ENST00000576936) - c.251G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs750213995 | 87 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.671) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.3979235G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979235G>A Locations: - p.Arg87Cys (Ensembl:ENST00000576936) - c.259C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs750213995 | 87 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000016.10:g.3979235G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979235G>C Locations: - p.Arg87Gly (Ensembl:ENST00000576936) - c.259C>G (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs142198070 | 87 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.47) Somatic: No Population frequencies: - MAF: 0.0000199 (gnomAD) Accession: NC_000016.10:g.3979234C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979234C>T Locations: - p.R87H (NCI-TCGA:ENST00000576936) - p.Arg87His (Ensembl:ENST00000576936) - c.260G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs142198070 | 87 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.477) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000016.10:g.3979234C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979234C>A Locations: - p.Arg87Leu (Ensembl:ENST00000576936) - c.260G>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs760409676 | 91 | W>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.3979221C>G Codon: TGG/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979221C>G Locations: - p.Trp91Cys (Ensembl:ENST00000576936) - c.273G>C (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1267974635 | 91 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.812) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.3979223A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979223A>G Locations: - p.Trp91Arg (Ensembl:ENST00000576936) - c.271T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs545216961 | 93 | A>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3979217C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979217C>A Locations: - p.Ala93Ser (Ensembl:ENST00000576936) - c.277G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
COSV104396401 rs545216961 | 93 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000016.10:g.3979217C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979217C>T Locations: - p.A93T (NCI-TCGA:ENST00000576936) - p.Ala93Thr (Ensembl:ENST00000576936) - c.277G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs763275318 | 94 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.828) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3979214C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979214C>T Locations: - p.Gly94Ser (Ensembl:ENST00000576936) - c.280G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1373761894 | 95 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979209C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979209C>A Locations: - p.Trp95Cys (Ensembl:ENST00000576936) - c.285G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056119366 | 96 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000016.10:g.3979208G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979208G>C Locations: - p.Leu96Val (Ensembl:ENST00000576936) - c.286C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1004277264 | 97 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.653) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.3979205G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979205G>C Locations: - p.Pro97Ala (Ensembl:ENST00000576936) - c.289C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs773593169 | 98 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979202G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979202G>A Locations: - p.Arg98Cys (Ensembl:ENST00000576936) - c.292C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs770270080 | 98 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.329) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00000398 (gnomAD) Accession: NC_000016.10:g.3979201C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979201C>T Locations: - p.R98H (NCI-TCGA:ENST00000576936) - p.Arg98His (Ensembl:ENST00000576936) - c.293G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs773593169 | 98 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979202G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979202G>T Locations: - p.Arg98Ser (Ensembl:ENST00000576936) - c.292C>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs910937151 | 99 | H>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979198T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979198T>A Locations: - p.His99Leu (Ensembl:ENST00000576936) - c.296A>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056119186 | 100 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3979196A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979196A>G Locations: - p.Cys100Arg (Ensembl:ENST00000576936) - c.298T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs748638309 | 101 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3979193T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979193T>G Locations: - p.Ile101Leu (Ensembl:ENST00000576936) - c.301A>C (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1473692140 | 102 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979190C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979190C>T Locations: - p.Gly102Arg (Ensembl:ENST00000576936) - c.304G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs747260152 | 104 | I>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.3979184T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979184T>G Locations: - p.Ile104Leu (Ensembl:ENST00000576936) - c.310A>C (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs149616013 | 106 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979178C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979178C>G Locations: - p.Val106Leu (Ensembl:ENST00000576936) - c.316G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs149616013 | 106 | V>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3979178C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979178C>T Locations: - p.Val106Met (Ensembl:ENST00000576936) - c.316G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs755239155 | 107 | S>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979174G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979174G>A Locations: - p.Ser107Leu (Ensembl:ENST00000576936) - c.320C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1026739385 | 109 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979168G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979168G>C Locations: - p.Pro109Arg (Ensembl:ENST00000576936) - c.326C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs144986362 | 110 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.05) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000016.10:g.3979166C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979166C>T Locations: - p.A110T (NCI-TCGA:ENST00000576936) - p.Ala110Thr (Ensembl:ENST00000576936) - c.328G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs145252548 | 110 | A>V | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3979165G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979165G>A Locations: - p.Ala110Val (Ensembl:ENST00000576936) - c.329C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1290685591 | 112 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.3979159G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979159G>A Locations: - p.Ala112Val (Ensembl:ENST00000576936) - c.335C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs377240633 | 113 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000016.10:g.3979157C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979157C>T Locations: - p.V113I (NCI-TCGA:ENST00000576936) - p.Val113Ile (Ensembl:ENST00000576936) - c.337G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1567419589 | 114 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3979152G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979152G>T Locations: - p.Tyr114Ter (Ensembl:ENST00000576936) - c.342C>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056118458 | 115 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.67) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3979151A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979151A>C Locations: - p.Ser115Ala (Ensembl:ENST00000576936) - c.343T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs959451403 | 115 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979150G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979150G>T Locations: - p.Ser115Tyr (Ensembl:ENST00000576936) - c.344C>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs767115758 | 116 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.549) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979147T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979147T>C Locations: - p.His116Arg (Ensembl:ENST00000576936) - c.347A>G (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1303982675 | 118 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.695) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3979141G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979141G>A Locations: - p.Thr118Ile (Ensembl:ENST00000576936) - c.353C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1567419574 | 118 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.261) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.3979142T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979142T>A Locations: - p.Thr118Ser (Ensembl:ENST00000576936) - c.352A>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056118281 | 119 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.236) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.3979139A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979139A>C Locations: - p.Ser119Ala (Ensembl:ENST00000576936) - c.355T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs770135718 | 120 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3979136C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979136C>T Locations: - p.Glu120Lys (Ensembl:ENST00000576936) - c.358G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs770135718 | 120 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3979136C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979136C>G Locations: - p.Glu120Gln (Ensembl:ENST00000576936) - c.358G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1182795178 | 121 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3979133A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979133A>G Locations: - p.Tyr121His (Ensembl:ENST00000576936) - c.361T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056118124 | 122 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.3979128C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979128C>A Locations: - p.Glu122Asp (Ensembl:ENST00000576936) - c.366G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056118099 | 123 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.338) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.3979126G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979126G>A Locations: - p.Thr123Ile (Ensembl:ENST00000576936) - c.368C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs372821407 | 124 | N>D | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000016.10:g.3979124T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979124T>C Locations: - p.Asn124Asp (Ensembl:ENST00000576936) - c.370A>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs777080266 | 125 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3979120A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979120A>G Locations: - p.Ile125Thr (Ensembl:ENST00000576936) - c.374T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1202549975 | 125 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.3979121T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979121T>C Locations: - p.Ile125Val (Ensembl:ENST00000576936) - c.373A>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs768742360 | 126 | H>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.795) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3979118G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979118G>C Locations: - p.His126Asp (Ensembl:ENST00000576936) - c.376C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056117899 | 126 | H>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3979117T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979117T>A Locations: - p.His126Leu (Ensembl:ENST00000576936) - c.377A>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs768742360 | 126 | H>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.3979118G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979118G>T Locations: - p.His126Asn (Ensembl:ENST00000576936) - c.376C>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056117899 | 126 | H>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3979117T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3979117T>G Locations: - p.His126Pro (Ensembl:ENST00000576936) - c.377A>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1251094400 | 127 | F>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3977630A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977630A>T Locations: - p.Phe127Ile (Ensembl:ENST00000576936) - c.379T>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056104340 | 128 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3977626G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977626G>A Locations: - p.Pro128Leu (Ensembl:ENST00000576936) - c.383C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs550558850 | 129 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3977623A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977623A>G Locations: - p.Val129Ala (Ensembl:ENST00000576936) - c.386T>C (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs550558850 | 129 | V>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977623A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977623A>C Locations: - p.Val129Gly (Ensembl:ENST00000576936) - c.386T>G (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs764388635 | 129 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.3977624C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977624C>G Locations: - p.Val129Leu (Ensembl:ENST00000576936) - c.385G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs764388635 | 129 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3977624C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977624C>T Locations: - p.Val129Met (Ensembl:ENST00000576936) - c.385G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1439383555 | 130 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3977621A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977621A>C Locations: - p.Phe130Val (Ensembl:ENST00000576936) - c.388T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs776026141 | 131 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.3977618T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977618T>C Locations: - p.Thr131Ala (Ensembl:ENST00000576936) - c.391A>G (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs759712460 | 131 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000016.10:g.3977617G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977617G>A Locations: - p.Thr131Ile (Ensembl:ENST00000576936) - c.392C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs759712460 | 131 | T>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.317) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977617G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977617G>C Locations: - p.Thr131Arg (Ensembl:ENST00000576936) - c.392C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1359591767 | 132 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3977614C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977614C>G Locations: - p.Gly132Ala (Ensembl:ENST00000576936) - c.395G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1359591767 | 132 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977614C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977614C>T Locations: - p.Gly132Asp (Ensembl:ENST00000576936) - c.395G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1359591767 | 132 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.291) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977614C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977614C>A Locations: - p.Gly132Val (Ensembl:ENST00000576936) - c.395G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs771344306 | 133 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977611G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977611G>A Locations: - p.Ser133Leu (Ensembl:ENST00000576936) - c.398C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1597139296 | 134 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3977608G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977608G>A Locations: - p.Ala134Val (Ensembl:ENST00000576936) - c.401C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs147280539 | 135 | A>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.34) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977606C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977606C>G Locations: - p.Ala135Pro (Ensembl:ENST00000576936) - c.403G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs147280539 | 135 | A>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3977606C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977606C>A Locations: - p.Ala135Ser (Ensembl:ENST00000576936) - c.403G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs147280539 | 135 | A>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000016.10:g.3977606C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977606C>T Locations: - p.Ala135Thr (Ensembl:ENST00000576936) - c.403G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
COSV53578739 rs912752455 | 135 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3977605G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977605G>A Locations: - p.A135V (NCI-TCGA:ENST00000576936) - p.Ala135Val (Ensembl:ENST00000576936) - c.404C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs779529291 | 136 | L>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977603G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977603G>T Locations: - p.Leu136Met (Ensembl:ENST00000576936) - c.406C>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs2056103791 | 136 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3977602A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977602A>G Locations: - p.Leu136Pro (Ensembl:ENST00000576936) - c.407T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1597139260 | 138 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3977596G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977596G>A Locations: - p.Ala138Val (Ensembl:ENST00000576936) - c.413C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs150826321 | 139 | V>F | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3977594C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977594C>A Locations: - p.Val139Phe (Ensembl:ENST00000576936) - c.415G>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs2141683155 | 139 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977593A>C Codon: GTC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977593A>C Locations: - p.Val139Gly (Ensembl:ENST00000576936) - c.416T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs150826321 | 139 | V>I | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3977594C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977594C>T Locations: - p.Val139Ile (Ensembl:ENST00000576936) - c.415G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs756453051 | 140 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977591C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977591C>T Locations: - p.Val140Met (Ensembl:ENST00000576936) - c.418G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs2056103524 | 141 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3977588G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977588G>A Locations: - p.His141Tyr (Ensembl:ENST00000576936) - c.421C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs905073122 | 142 | Y>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.236) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.3977584T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977584T>A Locations: - p.Tyr142Phe (Ensembl:ENST00000576936) - c.425A>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1457319401 | 142 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977585A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977585A>G Locations: - p.Tyr142His (Ensembl:ENST00000576936) - c.424T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs905073122 | 142 | Y>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977584T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977584T>G Locations: - p.Tyr142Ser (Ensembl:ENST00000576936) - c.425A>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1045137938 | 143 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977582A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977582A>G Locations: - p.Cys143Arg (Ensembl:ENST00000576936) - c.427T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1045137938 | 143 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3977582A>T Codon: TGT/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977582A>T Locations: - p.Cys143Ser (Ensembl:ENST00000576936) - c.427T>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1252168727 | 143 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977581C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977581C>T Locations: - p.Cys143Tyr (Ensembl:ENST00000576936) - c.428G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1204091731 | 145 | F>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977576A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977576A>T Locations: - p.Phe145Ile (Ensembl:ENST00000576936) - c.433T>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056103270 | 147 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3977570G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977570G>A Locations: - p.Gln147Ter (Ensembl:ENST00000576936) - c.439C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs752983999 | 148 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977567G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977567G>A Locations: - p.Leu148Phe (Ensembl:ENST00000576936) - c.442C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056103209 | 148 | L>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977566A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977566A>T Locations: - p.Leu148His (Ensembl:ENST00000576936) - c.443T>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1310659602 | 151 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977558A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977558A>G Locations: - p.Trp151Arg (Ensembl:ENST00000576936) - c.451T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
COSV99569440 rs2056103155 | 152 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.609) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000016.10:g.3977553C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977553C>T Locations: - p.M152I (NCI-TCGA:ENST00000576936) - p.Met152Ile (Ensembl:ENST00000576936) - c.456G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs759954267 | 153 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977551C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977551C>T Locations: - p.Arg153Lys (Ensembl:ENST00000576936) - c.458G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs759954267 | 153 | R>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977551C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977551C>A Locations: - p.Arg153Met (Ensembl:ENST00000576936) - c.458G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1464029468 | 154 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977549A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977549A>C Locations: - p.Ser154Ala (Ensembl:ENST00000576936) - c.460T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1329834891 | 154 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3977548G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977548G>A Locations: - p.Ser154Phe (Ensembl:ENST00000576936) - c.461C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs751717694 | 156 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.3977543G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977543G>A Locations: - p.Leu156Phe (Ensembl:ENST00000576936) - c.466C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs763272036 | 157 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3977540C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977540C>A Locations: - p.Ala157Ser (Ensembl:ENST00000576936) - c.469G>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs763272036 | 157 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977540C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977540C>T Locations: - p.Ala157Thr (Ensembl:ENST00000576936) - c.469G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1167591871 | 159 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.311) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000016.10:g.3977533A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977533A>G Locations: - p.Val159Ala (Ensembl:ENST00000576936) - c.476T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs776256089 | 159 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000016.10:g.3977534C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977534C>T Locations: - p.Val159Ile (Ensembl:ENST00000576936) - c.475G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs779548082 | 160 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977531C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977531C>A Locations: - p.Val160Leu (Ensembl:ENST00000576936) - c.478G>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
COSV53582340 rs779548082 | 160 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000009044 (gnomAD) Accession: NC_000016.10:g.3977531C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977531C>T Locations: - p.V160M (NCI-TCGA:ENST00000576936) - p.Val160Met (Ensembl:ENST00000576936) - c.478G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs144319192 | 162 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.3977525C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977525C>T Locations: - p.Ala162Thr (Ensembl:ENST00000576936) - c.484G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs753174574 | 163 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3977521C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977521C>G Locations: - p.Gly163Ala (Ensembl:ENST00000576936) - c.488G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs753174574 | 163 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3977521C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977521C>T Locations: - p.Gly163Glu (Ensembl:ENST00000576936) - c.488G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1214446616 | 163 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.247) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977522C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977522C>T Locations: - p.Gly163Arg (Ensembl:ENST00000576936) - c.487G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
COSV53574819 rs2056102426 | 164 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000016.10:g.3977518G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977518G>A Locations: - p.P164L (NCI-TCGA:ENST00000576936) - p.Pro164Leu (Ensembl:ENST00000576936) - c.491C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs374631917 | 164 | P>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977519G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977519G>A Locations: - p.Pro164Ser (Ensembl:ENST00000576936) - c.490C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs2056102362 | 165 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3977515A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977515A>G Locations: - p.Leu165Pro (Ensembl:ENST00000576936) - c.494T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1646744104 | 166 | L>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000016.10:g.3977513G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977513G>T Locations: - p.Leu166Ile (Ensembl:ENST00000576936) - c.496C>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1190816780 | 166 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977512A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977512A>G Locations: - p.Leu166Pro (Ensembl:ENST00000576936) - c.497T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1262881841 | 168 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3977507G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977507G>A Locations: - p.Leu168Phe (Ensembl:ENST00000576936) - c.502C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs750505834 | 169 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.3977503T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977503T>C Locations: - p.Tyr169Cys (Ensembl:ENST00000576936) - c.506A>G (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1169192126 | 169 | Y>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977504A>C Codon: TAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977504A>C Locations: - p.Tyr169Asp (Ensembl:ENST00000576936) - c.505T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1169192126 | 169 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.553) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.3977504A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977504A>G Locations: - p.Tyr169His (Ensembl:ENST00000576936) - c.505T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs374209133 | 170 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000016.10:g.3977501C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977501C>T Locations: - p.Val170Ile (Ensembl:ENST00000576936) - c.508G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1347599961 | 171 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977497G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977497G>A Locations: - p.Ser171Phe (Ensembl:ENST00000576936) - c.512C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1347599961 | 171 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977497G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977497G>T Locations: - p.Ser171Tyr (Ensembl:ENST00000576936) - c.512C>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs768273214 | 172 | L>P | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000016.10:g.3977494A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977494A>G Locations: - p.Leu172Pro (Ensembl:ENST00000576936) - c.515T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056102050 | 172 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.444) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.3977495G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977495G>C Locations: - p.Leu172Val (Ensembl:ENST00000576936) - c.514C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1176556124 | 174 | P>A | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3977489G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977489G>C Locations: - p.Pro174Ala (Ensembl:ENST00000576936) - c.520C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1039087539 | 174 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.236) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3977488G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3977488G>A Locations: - p.Pro174Leu (Ensembl:ENST00000576936) - c.521C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs200807161 | 178 | V>L | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000016.10:g.3974706C>A Codon: GTA/TTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974706C>A Locations: - p.Val178Leu (Ensembl:ENST00000576936) - c.532G>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs780559235 | 180 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000016.10:g.3974700T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974700T>C Locations: - p.Thr180Ala (Ensembl:ENST00000576936) - c.538A>G (Ensembl:ENST00000576936) Source type: large scale study | |||||||
COSV99570732 rs758989525 | 180 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000016.10:g.3974699G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974699G>A Locations: - p.T180I (NCI-TCGA:ENST00000576936) - p.Thr180Ile (Ensembl:ENST00000576936) - c.539C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs758989525 | 180 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000016.10:g.3974699G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974699G>C Locations: - p.Thr180Ser (Ensembl:ENST00000576936) - c.539C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
COSV53571472 rs779084996 | 181 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.18) Somatic: No Population frequencies: - MAF: 0.000007966 (gnomAD) Accession: NC_000016.10:g.3974696G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974696G>A Locations: - p.S181L (NCI-TCGA:ENST00000576936) - p.Ser181Leu (Ensembl:ENST00000576936) - c.542C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1044390225 | 182 | P>A | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000016.10:g.3974694G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974694G>C Locations: - p.Pro182Ala (Ensembl:ENST00000576936) - c.544C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056079351 | 183 | L>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.694) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.3974690A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974690A>C Locations: - p.Leu183Arg (Ensembl:ENST00000576936) - c.548T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056079315 | 184 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3974688C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974688C>A Locations: - p.Asp184Tyr (Ensembl:ENST00000576936) - c.550G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs756325728 | 185 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000016.10:g.3974685C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974685C>T Locations: - p.Ala185Thr (Ensembl:ENST00000576936) - c.553G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs950171987 | 186 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000016.10:g.3974682C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974682C>T Locations: - p.Val186Ile (Ensembl:ENST00000576936) - c.556G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs950171987 | 186 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000016.10:g.3974682C>G Codon: GTA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974682C>G Locations: - p.Val186Leu (Ensembl:ENST00000576936) - c.556G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1434141802 | 187 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.3974679G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974679G>T Locations: - p.Gln187Lys (Ensembl:ENST00000576936) - c.559C>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2056079141 | 188 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.686) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3974674A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974674A>C Locations: - p.Asn188Lys (Ensembl:ENST00000576936) - c.564T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2141679924 | 189 | F>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.3974672A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3974672A>G Locations: - p.F189S (NCI-TCGA:ENST00000576936) - p.Phe189Ser (Ensembl:ENST00000576936) - c.566T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1029333832 | 190 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3953516T>A Codon: AGA/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953516T>A Locations: - p.Arg190Ser (Ensembl:ENST00000576936) - c.570A>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1171645019 | 191 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000016.10:g.3953514C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953514C>T Locations: - p.Arg191Lys (Ensembl:ENST00000576936) - c.572G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs997742731 | 192 | R>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3953512G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953512G>A Locations: - p.Arg192Ter (Ensembl:ENST00000576936) - c.574C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs997742731 | 192 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.3953512G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953512G>C Locations: - p.Arg192Gly (Ensembl:ENST00000576936) - c.574C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs761784973 | 192 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.3953511C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953511C>T Locations: - p.Arg192Gln (Ensembl:ENST00000576936) - c.575G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2055892402 | 194 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.3953505G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953505G>C Locations: - p.Pro194Arg (Ensembl:ENST00000576936) - c.581C>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1036642388 | 195 | C>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3953502C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953502C>A Locations: - p.Cys195Phe (Ensembl:ENST00000576936) - c.584G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1036642388 | 195 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.728) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000016.10:g.3953502C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953502C>G Locations: - p.Cys195Ser (Ensembl:ENST00000576936) - c.584G>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1052532857 | 197 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000016.10:g.3953495C>G, NC_000016.10:g.3953495C>A Codon: GAG/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953495C>G, NC_000016.10:g.3953495C>A Locations: - p.Glu197Asp (Ensembl:ENST00000576936) - c.591G>C (Ensembl:ENST00000576936) - c.591G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1597124566 | 199 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3953490T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953490T>C Locations: - p.Asp199Gly (Ensembl:ENST00000576936) - c.596A>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2141660085 | 199 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000016.10:g.3953491C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953491C>T Locations: - p.Asp199Asn (Ensembl:ENST00000576936) - c.595G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1597124559 | 200 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000016.10:g.3953488A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953488A>G Locations: - p.Ser200Pro (Ensembl:ENST00000576936) - c.598T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2055892319 | 203 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3953479G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953479G>T Locations: - p.Pro203Thr (Ensembl:ENST00000576936) - c.607C>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2055892274 | 204 | F>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000016.10:g.3953475A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953475A>C Locations: - p.Phe204Cys (Ensembl:ENST00000576936) - c.611T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2055892287 | 204 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000016.10:g.3953476A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953476A>G Locations: - p.Phe204Leu (Ensembl:ENST00000576936) - c.610T>C (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1168023502 | 205 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.206) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3953471A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953471A>C Locations: - p.Ser205Arg (Ensembl:ENST00000576936) - c.615T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs570887157 | 207 | Q>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3953467G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953467G>A Locations: - p.Gln207Ter (Ensembl:ENST00000576936) - c.619C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs2055892213 | 208 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000016.10:g.3953464C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953464C>T Locations: - p.Glu208Lys (Ensembl:ENST00000576936) - c.622G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1220892590 | 209 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000016.10:g.3953459C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953459C>A Locations: - p.Glu209Asp (Ensembl:ENST00000576936) - c.627G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2055892196 | 209 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000016.10:g.3953461C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953461C>T Locations: - p.Glu209Lys (Ensembl:ENST00000576936) - c.625G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1457754288 | 211 | C>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.92) Somatic: No Accession: NC_000016.10:g.3953455A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953455A>C Locations: - p.Cys211Gly (Ensembl:ENST00000576936) - c.631T>G (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs569524471 | 212 | R>C | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.262) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3953452G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953452G>A Locations: - p.Arg212Cys (Ensembl:ENST00000576936) - c.634C>T (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs569524471 | 212 | R>G | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3953452G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953452G>C Locations: - p.Arg212Gly (Ensembl:ENST00000576936) - c.634C>G (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs182711672 | 212 | R>H | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3953451C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953451C>T Locations: - p.Arg212His (Ensembl:ENST00000576936) - c.635G>A (Ensembl:ENST00000576936) Source type: large scale study | |||||||
rs1487476668 | 213 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.78) Somatic: No Accession: NC_000016.10:g.3953448G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953448G>A Locations: - p.Ala213Val (Ensembl:ENST00000576936) - c.638C>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs2055892050 | 214 | G>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3953446C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953446C>A Locations: - p.Gly214Ter (Ensembl:ENST00000576936) - c.640G>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs928605978 | 214 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3953445C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953445C>T Locations: - p.Gly214Glu (Ensembl:ENST00000576936) - c.641G>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs1373338735 | 215 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000016.10:g.3953442G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953442G>T Locations: - p.Ala215Asp (Ensembl:ENST00000576936) - c.644C>A (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
rs971280207 | 216 | *>Y | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000016.10:g.3953438T>A Codon: TAA/TAT Consequence type: stop lost Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3953438T>A Locations: - p.Ter216TyrextTer2 (Ensembl:ENST00000576936) - c.648A>T (Ensembl:ENST00000576936) Source type: large scale study Cross-references: | |||||||
VAR_023750 rs2230739 | 772 | I>M | found in 37.5% of the Asian population, in 30% of the Caucasian population and in 16.3% of the African-American population; reduced adenylyl cyclase activity in response to stimulation of the beta-adregnergic receptor by Mn(2+) agonists isoproteronol and NaF; increased albuterol-stimulated adenylyl cyclase activity in the presence of corticosteroid (UniProt) | Benign (UniProt) | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000016.10:g.3983435T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3983435T>C Locations: - p.Ile772Met (UniProt:O60503) - p.Ile5Met (Ensembl:ENST00000576936) - c.15A>G (Ensembl:ENST00000576936) Source type: mixed Cross-references: |