P49716 · CEBPD_HUMAN
- ProteinCCAAT/enhancer-binding protein delta
- GeneCEBPD
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids269 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs2154496127 | 2 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000008.11:g.47738117T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738117T>C Locations: - p.Ser2Gly (Ensembl:ENST00000408965) - c.4A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1260540790 | 3 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000008.11:g.47738114C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738114C>T Locations: - p.Ala3Thr (Ensembl:ENST00000408965) - c.7G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086288514 | 5 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47738107A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738107A>C Locations: - p.Leu5Arg (Ensembl:ENST00000408965) - c.14T>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs917551401 | 9 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47738095T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738095T>C Locations: - p.Asp9Gly (Ensembl:ENST00000408965) - c.26A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2154496126 | 9 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47738096C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738096C>G Locations: - p.Asp9His (Ensembl:ENST00000408965) - c.25G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs917551401 | 9 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47738095T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738095T>A Locations: - p.Asp9Val (Ensembl:ENST00000408965) - c.26A>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1474825509 | 10 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47738093C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738093C>G Locations: - p.Gly10Arg (Ensembl:ENST00000408965) - c.28G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1474825509 | 10 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47738093C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738093C>T Locations: - p.Gly10Ser (Ensembl:ENST00000408965) - c.28G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1277789151 | 11 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000008.11:g.47738089G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738089G>A Locations: - p.Pro11Leu (Ensembl:ENST00000408965) - c.32C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1277789151 | 11 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000008.11:g.47738089G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738089G>T Locations: - p.Pro11Gln (Ensembl:ENST00000408965) - c.32C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1277789151 | 11 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000008.11:g.47738089G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738089G>C Locations: - p.Pro11Arg (Ensembl:ENST00000408965) - c.32C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1308681703 | 11 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000008.11:g.47738090G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738090G>A Locations: - p.Pro11Ser (Ensembl:ENST00000408965) - c.31C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1399322864 | 12 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000008.11:g.47738086G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738086G>T Locations: - p.Ala12Glu (Ensembl:ENST00000408965) - c.35C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1159379401 | 12 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000008.11:g.47738087C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738087C>G Locations: - p.Ala12Pro (Ensembl:ENST00000408965) - c.34G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1159379401 | 12 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000008.11:g.47738087C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738087C>T Locations: - p.Ala12Thr (Ensembl:ENST00000408965) - c.34G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086288042 | 13 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47738084G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738084G>A Locations: - p.Arg13Cys (Ensembl:ENST00000408965) - c.37C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs957008954 | 14 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.461) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000008.11:g.47738080C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738080C>T Locations: - p.Gly14Asp (Ensembl:ENST00000408965) - c.41G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1384444271 | 14 | G>S | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.26) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000008.11:g.47738081C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738081C>T Locations: - p.Gly14Ser (Ensembl:ENST00000408965) - c.40G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs979647367 | 15 | A>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000008.11:g.47738077G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738077G>T Locations: - p.Ala15Glu (Ensembl:ENST00000408965) - c.44C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs925511420 | 15 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000008.11:g.47738078C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738078C>T Locations: - p.Ala15Thr (Ensembl:ENST00000408965) - c.43G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086287626 | 16 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000008.11:g.47738075G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738075G>C Locations: - p.Pro16Ala (Ensembl:ENST00000408965) - c.46C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1228404379 | 17 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47738072A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738072A>G Locations: - p.Trp17Arg (Ensembl:ENST00000408965) - c.49T>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086287567 | 18 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.47738068G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738068G>A Locations: - p.Pro18Leu (Ensembl:ENST00000408965) - c.53C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086287438 | 20 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47738061C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738061C>G Locations: - p.Glu20Asp (Ensembl:ENST00000408965) - c.60G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1259820944 | 21 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47738059G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738059G>T Locations: - p.Pro21His (Ensembl:ENST00000408965) - c.62C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1259820944 | 21 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47738059G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738059G>A Locations: - p.Pro21Leu (Ensembl:ENST00000408965) - c.62C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086287415 | 21 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47738060G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738060G>T Locations: - p.Pro21Thr (Ensembl:ENST00000408965) - c.61C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086287356 | 22 | A>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47738056G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738056G>T Locations: - p.Ala22Glu (Ensembl:ENST00000408965) - c.65C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1348043111 | 22 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000008.11:g.47738057C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738057C>T Locations: - p.Ala22Thr (Ensembl:ENST00000408965) - c.64G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1202019771 | 23 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47738053G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738053G>A Locations: - p.Pro23Leu (Ensembl:ENST00000408965) - c.68C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1348129683 | 24 | F>L | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47738049G>C, NC_000008.11:g.47738049G>T Codon: TTC/TTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738049G>C, NC_000008.11:g.47738049G>T Locations: - p.Phe24Leu (Ensembl:ENST00000408965) - c.72C>G (Ensembl:ENST00000408965) - c.72C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1185690258 | 25 | Y>H | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47738048A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738048A>G Locations: - p.Tyr25His (Ensembl:ENST00000408965) - c.73T>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1185690258 | 25 | Y>N | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47738048A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738048A>T Locations: - p.Tyr25Asn (Ensembl:ENST00000408965) - c.73T>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1396471451 | 26 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000008.11:g.47738043T>A, NC_000008.11:g.47738043T>G Codon: GAA/GAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738043T>A, NC_000008.11:g.47738043T>G Locations: - p.Glu26Asp (Ensembl:ENST00000408965) - c.78A>T (Ensembl:ENST00000408965) - c.78A>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1478176647 | 26 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47738045C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738045C>G Locations: - p.Glu26Gln (Ensembl:ENST00000408965) - c.76G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1191233059 | 27 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000008.11:g.47738042G>C Codon: CCG/GCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738042G>C Locations: - p.Pro27Ala (Ensembl:ENST00000408965) - c.79C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086287072 | 27 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000008.11:g.47738041G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738041G>A Locations: - p.Pro27Leu (Ensembl:ENST00000408965) - c.80C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1174749920 | 28 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000008.11:g.47738039C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738039C>T Locations: - p.Gly28Ser (Ensembl:ENST00000408965) - c.82G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1305404791 | 29 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000008.11:g.47738036G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738036G>C Locations: - p.Arg29Gly (Ensembl:ENST00000408965) - c.85C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs767801847 | 29 | R>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.121) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000008.11:g.47738035C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738035C>G Locations: - p.Arg29Pro (Ensembl:ENST00000408965) - c.86G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs767801847 | 29 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000008.11:g.47738035C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738035C>T Locations: - p.Arg29Gln (Ensembl:ENST00000408965) - c.86G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs955361294 | 30 | A>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000008.11:g.47738032G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738032G>T Locations: - p.Ala30Glu (Ensembl:ENST00000408965) - c.89C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086286836 | 31 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000008.11:g.47738029C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738029C>G Locations: - p.Gly31Ala (Ensembl:ENST00000408965) - c.92G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086286794 | 32 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000008.11:g.47738027T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738027T>C Locations: - p.Lys32Glu (Ensembl:ENST00000408965) - c.94A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086286774 | 32 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000008.11:g.47738026T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738026T>C Locations: - p.Lys32Arg (Ensembl:ENST00000408965) - c.95A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1445195276 | 33 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.193) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47738023G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738023G>A Locations: - p.Pro33Leu (Ensembl:ENST00000408965) - c.98C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2154496118 | 33 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47738024G>T Codon: CCG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738024G>T Locations: - p.Pro33Thr (Ensembl:ENST00000408965) - c.97C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1200786028 | 35 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.168) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000008.11:g.47738017C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738017C>T Locations: - p.Arg35His (Ensembl:ENST00000408965) - c.104G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086286571 | 36 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000008.11:g.47738015C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738015C>G Locations: - p.Gly36Arg (Ensembl:ENST00000408965) - c.106G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
TCGA novel | 37 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000008.11:g.47738012C>T Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738012C>T Locations: - c.109G>A (NCI-TCGA:ENST00000408965) - p.A37T (NCI-TCGA:ENST00000408965) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1278396646 | 38 | E>K | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000008.11:g.47738009C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738009C>T Locations: - p.Glu38Lys (Ensembl:ENST00000408965) - c.112G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1278396646 | 38 | E>Q | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000008.11:g.47738009C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738009C>G Locations: - p.Glu38Gln (Ensembl:ENST00000408965) - c.112G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs771129835 | 39 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000008.11:g.47738006G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738006G>C Locations: - p.Pro39Ala (Ensembl:ENST00000408965) - c.115C>G (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs771129835 | 39 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000008.11:g.47738006G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738006G>A Locations: - p.Pro39Ser (Ensembl:ENST00000408965) - c.115C>T (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1299906984 | 41 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47738000C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47738000C>A Locations: - p.Ala41Ser (Ensembl:ENST00000408965) - c.121G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
COSV99854781 | 43 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000008.11:g.47737994C>A Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737994C>A Locations: - c.127G>T (NCI-TCGA:ENST00000408965) - p.G43C (NCI-TCGA:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs897771140 | 43 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000008.11:g.47737993C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737993C>A Locations: - p.Gly43Val (Ensembl:ENST00000408965) - c.128G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1346895662 | 45 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000008.11:g.47737988G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737988G>C Locations: - p.Pro45Ala (Ensembl:ENST00000408965) - c.133C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs776719265 | 45 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000008.11:g.47737987G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737987G>A Locations: - p.Pro45Leu (Ensembl:ENST00000408965) - c.134C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1346895662 | 45 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000008.11:g.47737988G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737988G>A Locations: - p.Pro45Ser (Ensembl:ENST00000408965) - c.133C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1038005895 | 46 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.206) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000008.11:g.47737984C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737984C>A Locations: - p.Gly46Val (Ensembl:ENST00000408965) - c.137G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086286142 | 47 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000008.11:g.47737981G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737981G>A Locations: - p.Ala47Val (Ensembl:ENST00000408965) - c.140C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1006074015 | 48 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000008.11:g.47737979C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737979C>A Locations: - p.Ala48Ser (Ensembl:ENST00000408965) - c.142G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1196506671 | 49 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47737976C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737976C>G Locations: - p.Ala49Pro (Ensembl:ENST00000408965) - c.145G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1433711208 | 49 | A>V | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47737975G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737975G>A Locations: - p.Ala49Val (Ensembl:ENST00000408965) - c.146C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1390310839 | 50 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47737972G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737972G>A Locations: - p.Pro50Leu (Ensembl:ENST00000408965) - c.149C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs746849673 | 51 | A>S | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47737970C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737970C>A Locations: - p.Ala51Ser (Ensembl:ENST00000408965) - c.151G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs746849673 | 51 | A>T | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737970C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737970C>T Locations: - p.Ala51Thr (Ensembl:ENST00000408965) - c.151G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086285680 | 52 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737966A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737966A>G Locations: - p.Met52Thr (Ensembl:ENST00000408965) - c.155T>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs779666696 | 52 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47737967T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737967T>C Locations: - p.Met52Val (Ensembl:ENST00000408965) - c.154A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs778466561 | 55 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47737956G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737956G>C Locations: - p.Asp55Glu (Ensembl:ENST00000408965) - c.165C>G (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs199808557 | 55 | D>N | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000008.11:g.47737958C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737958C>T Locations: - p.Asp55Asn (Ensembl:ENST00000408965) - c.163G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1172114609 | 57 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737950G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737950G>C Locations: - p.Ser57Arg (Ensembl:ENST00000408965) - c.171C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2154496105 | 57 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737952T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737952T>G Locations: - p.Ser57Arg (Ensembl:ENST00000408965) - c.169A>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs756747948 | 58 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000008.11:g.47737949C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737949C>A Locations: - p.Ala58Ser (Ensembl:ENST00000408965) - c.172G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs764590968 | 59 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737944G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737944G>C Locations: - p.Ile59Met (Ensembl:ENST00000408965) - c.177C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086285441 | 59 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737946T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737946T>C Locations: - p.Ile59Val (Ensembl:ENST00000408965) - c.175A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs201314130 | 61 | F>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737938G>T, NC_000008.11:g.47737938G>C Codon: TTC/TTA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737938G>T, NC_000008.11:g.47737938G>C Locations: - p.Phe61Leu (Ensembl:ENST00000408965) - c.183C>A (Ensembl:ENST00000408965) - c.183C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1373002475 | 61 | F>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47737939A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737939A>T Locations: - p.Phe61Tyr (Ensembl:ENST00000408965) - c.182T>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1339334572 | 62 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47737937T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737937T>G Locations: - p.Ser62Arg (Ensembl:ENST00000408965) - c.184A>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs753152361 | 63 | A>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47737934C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737934C>A Locations: - p.Ala63Ser (Ensembl:ENST00000408965) - c.187G>T (Ensembl:ENST00000408965) Source type: large scale study | |||||||
TCGA novel | 64 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737930T>C Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737930T>C Locations: - c.191A>G (NCI-TCGA:ENST00000408965) - p.Y64C (NCI-TCGA:ENST00000408965) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2086285101 | 66 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737924T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737924T>G Locations: - p.Asp66Ala (Ensembl:ENST00000408965) - c.197A>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1418806628 | 67 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737921G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737921G>C Locations: - p.Ser67Cys (Ensembl:ENST00000408965) - c.200C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs759869157 | 68 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47737917C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737917C>T Locations: - p.Met68Ile (Ensembl:ENST00000408965) - c.204G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs767741238 | 68 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47737918A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737918A>G Locations: - p.Met68Thr (Ensembl:ENST00000408965) - c.203T>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
COSV99855753 | 68 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000008.11:g.47737919T>C Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737919T>C Locations: - c.202A>G (NCI-TCGA:ENST00000408965) - p.M68V (NCI-TCGA:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1413840250 | 69 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.97) Somatic: No Accession: NC_000008.11:g.47737916C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737916C>A Locations: - p.Ala69Ser (Ensembl:ENST00000408965) - c.205G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
COSV52390057 | 69 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000008.11:g.47737915G>A Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737915G>A Locations: - c.206C>T (NCI-TCGA:ENST00000408965) - p.A69V (NCI-TCGA:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086284843 | 70 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.674) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47737912G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737912G>A Locations: - p.Ala70Val (Ensembl:ENST00000408965) - c.209C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1171941084 | 71 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737910C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737910C>A Locations: - p.Val71Leu (Ensembl:ENST00000408965) - c.211G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs766647478 | 72 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737906G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737906G>C Locations: - p.Pro72Arg (Ensembl:ENST00000408965) - c.215C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs768658871 | 75 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737896C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737896C>G Locations: - p.Glu75Asp (Ensembl:ENST00000408965) - c.225G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1255205792 | 75 | E>G | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737897T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737897T>C Locations: - p.Glu75Gly (Ensembl:ENST00000408965) - c.224A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086284522 | 75 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737898C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737898C>T Locations: - p.Glu75Lys (Ensembl:ENST00000408965) - c.223G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086284192 | 79 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737886C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737886C>T Locations: - p.Asp79Asn (Ensembl:ENST00000408965) - c.235G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1254841579 | 80 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737883C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737883C>T Locations: - p.Glu80Lys (Ensembl:ENST00000408965) - c.238G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086284040 | 81 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737879A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737879A>G Locations: - p.Leu81Pro (Ensembl:ENST00000408965) - c.242T>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs925575519 | 82 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737876A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737876A>G Locations: - p.Phe82Ser (Ensembl:ENST00000408965) - c.245T>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1226589852 | 83 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47737874C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737874C>T Locations: - p.Ala83Thr (Ensembl:ENST00000408965) - c.247G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs368052819 | 84 | D>N | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737871C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737871C>T Locations: - p.Asp84Asn (Ensembl:ENST00000408965) - c.250G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086283557 | 87 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000008.11:g.47737861T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737861T>C Locations: - p.Asn87Ser (Ensembl:ENST00000408965) - c.260A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs374295029 | 89 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000008.11:g.47737855T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737855T>C Locations: - p.Asn89Ser (Ensembl:ENST00000408965) - c.266A>G (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1229348269 | 90 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.274) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000008.11:g.47737851G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737851G>C Locations: - p.His90Gln (Ensembl:ENST00000408965) - c.270C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs113725090 | 91 | K>N | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.213) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47737848C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737848C>G Locations: - p.Lys91Asn (Ensembl:ENST00000408965) - c.273G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1253896255 | 91 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000008.11:g.47737849T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737849T>C Locations: - p.Lys91Arg (Ensembl:ENST00000408965) - c.272A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1439396246 | 92 | A>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000008.11:g.47737846G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737846G>T Locations: - p.Ala92Glu (Ensembl:ENST00000408965) - c.275C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1439396246 | 92 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000008.11:g.47737846G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737846G>C Locations: - p.Ala92Gly (Ensembl:ENST00000408965) - c.275C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs778550595 | 92 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000008.11:g.47737847C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737847C>T Locations: - p.Ala92Thr (Ensembl:ENST00000408965) - c.274G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1439396246 | 92 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000008.11:g.47737846G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737846G>A Locations: - p.Ala92Val (Ensembl:ENST00000408965) - c.275C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
TCGA novel | 93 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000008.11:g.47737843C>T Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737843C>T Locations: - c.278G>A (NCI-TCGA:ENST00000408965) - p.G93D (NCI-TCGA:ENST00000408965) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs756838044 | 94 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000008.11:g.47737841C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737841C>T Locations: - p.Gly94Ser (Ensembl:ENST00000408965) - c.280G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs777241531 | 95 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000008.11:g.47737838C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737838C>A Locations: - p.Ala95Ser (Ensembl:ENST00000408965) - c.283G>T (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs777241531 | 95 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000008.11:g.47737838C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737838C>T Locations: - p.Ala95Thr (Ensembl:ENST00000408965) - c.283G>A (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs756682812 | 95 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.229) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000008.11:g.47737837G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737837G>A Locations: - p.Ala95Val (Ensembl:ENST00000408965) - c.284C>T (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1393338046 | 96 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000008.11:g.47737834C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737834C>T Locations: - p.Gly96Glu (Ensembl:ENST00000408965) - c.287G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1472764523 | 96 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000008.11:g.47737835C>G, NC_000008.11:g.47737835C>T Codon: GGG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737835C>G, NC_000008.11:g.47737835C>T Locations: - p.Gly96Arg (Ensembl:ENST00000408965) - c.286G>C (Ensembl:ENST00000408965) - c.286G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1225340963 | 97 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000008.11:g.47737831G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737831G>A Locations: - p.Pro97Leu (Ensembl:ENST00000408965) - c.290C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1410445428 | 97 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000008.11:g.47737832G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737832G>A Locations: - p.Pro97Ser (Ensembl:ENST00000408965) - c.289C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1247417793 | 98 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000008.11:g.47737828A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737828A>G Locations: - p.Leu98Pro (Ensembl:ENST00000408965) - c.293T>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1381378978 | 99 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.517) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000008.11:g.47737825T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737825T>C Locations: - p.Glu99Gly (Ensembl:ENST00000408965) - c.296A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs955476252 | 99 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.674) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000008.11:g.47737826C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737826C>G Locations: - p.Glu99Gln (Ensembl:ENST00000408965) - c.295G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086282098 | 100 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000008.11:g.47737823G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737823G>A Locations: - p.Leu100Phe (Ensembl:ENST00000408965) - c.298C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086282045 | 101 | L>F | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000008.11:g.47737820G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737820G>A Locations: - p.Leu101Phe (Ensembl:ENST00000408965) - c.301C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1215601971 | 101 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000008.11:g.47737819A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737819A>C Locations: - p.Leu101Arg (Ensembl:ENST00000408965) - c.302T>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1695588004 | 102 | P>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000008.11:g.47737816G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737816G>T Locations: - p.Pro102His (Ensembl:ENST00000408965) - c.305C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1467549103 | 102 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000008.11:g.47737817G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737817G>A Locations: - p.Pro102Ser (Ensembl:ENST00000408965) - c.304C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs963011722 | 103 | G>D | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47737813C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737813C>T Locations: - p.Gly103Asp (Ensembl:ENST00000408965) - c.308G>A (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1319031887 | 104 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000008.11:g.47737810C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737810C>T Locations: - p.Gly104Asp (Ensembl:ENST00000408965) - c.311G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1319031887 | 104 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000008.11:g.47737810C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737810C>A Locations: - p.Gly104Val (Ensembl:ENST00000408965) - c.311G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs561689866 | 105 | P>L | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000008.11:g.47737807G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737807G>A Locations: - p.Pro105Leu (Ensembl:ENST00000408965) - c.314C>T (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs766735701 | 105 | P>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.458) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000008.11:g.47737808G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737808G>A Locations: - p.Pro105Ser (Ensembl:ENST00000408965) - c.313C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1372123820 | 106 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000008.11:g.47737804G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737804G>A Locations: - p.Ala106Val (Ensembl:ENST00000408965) - c.317C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086281399 | 107 | R>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.47737802G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737802G>A Locations: - p.Arg107Cys (Ensembl:ENST00000408965) - c.319C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086281343 | 107 | R>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.462) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000008.11:g.47737801C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737801C>T Locations: - p.Arg107His (Ensembl:ENST00000408965) - c.320G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1442408595 | 108 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000008.11:g.47737798G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737798G>T Locations: - p.Pro108His (Ensembl:ENST00000408965) - c.323C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1442408595 | 108 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000008.11:g.47737798G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737798G>A Locations: - p.Pro108Leu (Ensembl:ENST00000408965) - c.323C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1325063513 | 111 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000008.11:g.47737789G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737789G>A Locations: - p.Pro111Leu (Ensembl:ENST00000408965) - c.332C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1325063513 | 111 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.338) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000008.11:g.47737789G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737789G>T Locations: - p.Pro111Gln (Ensembl:ENST00000408965) - c.332C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1325063513 | 111 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000008.11:g.47737789G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737789G>C Locations: - p.Pro111Arg (Ensembl:ENST00000408965) - c.332C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1260286682 | 111 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000008.11:g.47737790G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737790G>A Locations: - p.Pro111Ser (Ensembl:ENST00000408965) - c.331C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086281040 | 112 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.647) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000008.11:g.47737786C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737786C>T Locations: - p.Gly112Asp (Ensembl:ENST00000408965) - c.335G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086280881 | 113 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000008.11:g.47737783G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737783G>C Locations: - p.Pro113Arg (Ensembl:ENST00000408965) - c.338C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs759331352 | 115 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000008.11:g.47737778C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737778C>A Locations: - p.Ala115Ser (Ensembl:ENST00000408965) - c.343G>T (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs759331352 | 115 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.363) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000008.11:g.47737778C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737778C>T Locations: - p.Ala115Thr (Ensembl:ENST00000408965) - c.343G>A (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs549496037 | 116 | P>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000008.11:g.47737775G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737775G>C Locations: - p.Pro116Ala (Ensembl:ENST00000408965) - c.346C>G (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1381307615 | 117 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.47737772G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737772G>A Locations: - p.Arg117Cys (Ensembl:ENST00000408965) - c.349C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1381307615 | 117 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000008.11:g.47737772G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737772G>C Locations: - p.Arg117Gly (Ensembl:ENST00000408965) - c.349C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2154496077 | 118 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000008.11:g.47737768A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737768A>G Locations: - p.Leu118Pro (Ensembl:ENST00000408965) - c.353T>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086280225 | 119 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.362) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47737765A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737765A>C Locations: - p.Leu119Arg (Ensembl:ENST00000408965) - c.356T>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs770594712 | 121 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.581) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737760G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737760G>A Locations: - p.Arg121Cys (Ensembl:ENST00000408965) - c.361C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs770594712 | 121 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.47737760G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737760G>C Locations: - p.Arg121Gly (Ensembl:ENST00000408965) - c.361C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1252923377 | 122 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.47737757C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737757C>A Locations: - p.Glu122Ter (Ensembl:ENST00000408965) - c.364G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1189850742 | 122 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47737755C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737755C>A Locations: - p.Glu122Asp (Ensembl:ENST00000408965) - c.366G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1252923377 | 122 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47737757C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737757C>T Locations: - p.Glu122Lys (Ensembl:ENST00000408965) - c.364G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1013357162 | 123 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000008.11:g.47737754G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737754G>C Locations: - p.Pro123Ala (Ensembl:ENST00000408965) - c.367C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1013357162 | 123 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000008.11:g.47737754G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737754G>A Locations: - p.Pro123Ser (Ensembl:ENST00000408965) - c.367C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086279834 | 124 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000008.11:g.47737749G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737749G>C Locations: - p.Asp124Glu (Ensembl:ENST00000408965) - c.372C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086279890 | 124 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47737751C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737751C>G Locations: - p.Asp124His (Ensembl:ENST00000408965) - c.370G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs896261144 | 125 | W>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000008.11:g.47737748A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737748A>C Locations: - p.Trp125Gly (Ensembl:ENST00000408965) - c.373T>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1186674184 | 128 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.98) Somatic: No Accession: NC_000008.11:g.47737739C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737739C>T Locations: - p.Gly128Ser (Ensembl:ENST00000408965) - c.382G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1052588734 | 129 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000008.11:g.47737734G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737734G>C Locations: - p.Asp129Glu (Ensembl:ENST00000408965) - c.387C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs531462162 | 129 | D>H | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.47737736C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737736C>G Locations: - p.Asp129His (Ensembl:ENST00000408965) - c.385G>C (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1215474358 | 130 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000008.11:g.47737733C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737733C>T Locations: - p.Ala130Thr (Ensembl:ENST00000408965) - c.388G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs935024096 | 130 | A>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000008.11:g.47737732G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737732G>A Locations: - p.Ala130Val (Ensembl:ENST00000408965) - c.389C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1202956802 | 131 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47737729G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737729G>T Locations: - p.Pro131His (Ensembl:ENST00000408965) - c.392C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1202956802 | 131 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.47737729G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737729G>A Locations: - p.Pro131Leu (Ensembl:ENST00000408965) - c.392C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1259183702 | 131 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.96) Somatic: No Accession: NC_000008.11:g.47737730G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737730G>A Locations: - p.Pro131Ser (Ensembl:ENST00000408965) - c.391C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1473958515 | 132 | G>D | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000008.11:g.47737726C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737726C>T Locations: - p.Gly132Asp (Ensembl:ENST00000408965) - c.395G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1399728714 | 135 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47737716C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737716C>A Locations: - p.Leu135Phe (Ensembl:ENST00000408965) - c.405G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086278574 | 136 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.47737714G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737714G>T Locations: - p.Pro136His (Ensembl:ENST00000408965) - c.407C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1368236994 | 136 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47737715G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737715G>A Locations: - p.Pro136Ser (Ensembl:ENST00000408965) - c.406C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1360675738 | 137 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.181) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47737711G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737711G>A Locations: - p.Ala137Val (Ensembl:ENST00000408965) - c.410C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1281328750 | 143 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737694C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737694C>A Locations: - p.Ala143Ser (Ensembl:ENST00000408965) - c.427G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1563717001 | 145 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737687G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737687G>C Locations: - p.Thr145Ser (Ensembl:ENST00000408965) - c.434C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1452722828 | 148 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.731) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47737678C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737678C>A Locations: - p.Ser148Ile (Ensembl:ENST00000408965) - c.443G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1376305340 | 152 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000008.11:g.47737667C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737667C>T Locations: - p.Ala152Thr (Ensembl:ENST00000408965) - c.454G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086277372 | 153 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000008.11:g.47737663C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737663C>T Locations: - p.Gly153Glu (Ensembl:ENST00000408965) - c.458G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086277372 | 153 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47737663C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737663C>A Locations: - p.Gly153Val (Ensembl:ENST00000408965) - c.458G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086277334 | 155 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.47737658G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737658G>A Locations: - p.Pro155Ser (Ensembl:ENST00000408965) - c.463C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086277334 | 155 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000008.11:g.47737658G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737658G>T Locations: - p.Pro155Thr (Ensembl:ENST00000408965) - c.463C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086277295 | 156 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000008.11:g.47737654G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737654G>C Locations: - p.Thr156Ser (Ensembl:ENST00000408965) - c.467C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1280269497 | 157 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737651G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737651G>A Locations: - p.Pro157Leu (Ensembl:ENST00000408965) - c.470C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086277222 | 157 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47737652G>T Codon: CCG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737652G>T Locations: - p.Pro157Thr (Ensembl:ENST00000408965) - c.469C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs918699325 | 158 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47737648G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737648G>A Locations: - p.Pro158Leu (Ensembl:ENST00000408965) - c.473C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2154496057 | 161 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.47737640G>T Codon: CCG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737640G>T Locations: - p.Pro161Thr (Ensembl:ENST00000408965) - c.481C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2154496055 | 162 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000008.11:g.47737636T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737636T>C Locations: - p.Glu162Gly (Ensembl:ENST00000408965) - c.485A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1469365596 | 162 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000008.11:g.47737637C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737637C>T Locations: - p.Glu162Lys (Ensembl:ENST00000408965) - c.484G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs545658644 | 163 | P>L | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47737633G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737633G>A Locations: - p.Pro163Leu (Ensembl:ENST00000408965) - c.488C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs545658644 | 163 | P>R | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47737633G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737633G>C Locations: - p.Pro163Arg (Ensembl:ENST00000408965) - c.488C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1589675070 | 163 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000008.11:g.47737634G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737634G>A Locations: - p.Pro163Ser (Ensembl:ENST00000408965) - c.487C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs973201486 | 164 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000008.11:g.47737630G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737630G>A Locations: - p.Pro164Leu (Ensembl:ENST00000408965) - c.491C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs973201486 | 164 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.463) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000008.11:g.47737630G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737630G>T Locations: - p.Pro164Gln (Ensembl:ENST00000408965) - c.491C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs973201486 | 164 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.463) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000008.11:g.47737630G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737630G>C Locations: - p.Pro164Arg (Ensembl:ENST00000408965) - c.491C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs962752316 | 165 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47737628G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737628G>A Locations: - p.Arg165Cys (Ensembl:ENST00000408965) - c.493C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086276576 | 166 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000008.11:g.47737624C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737624C>T Locations: - p.Ser166Asn (Ensembl:ENST00000408965) - c.497G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086276533 | 167 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000008.11:g.47737622T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737622T>C Locations: - p.Ser167Gly (Ensembl:ENST00000408965) - c.499A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1017310803 | 167 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.568) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47737621C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737621C>A Locations: - p.Ser167Ile (Ensembl:ENST00000408965) - c.500G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1017310803 | 167 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000008.11:g.47737621C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737621C>T Locations: - p.Ser167Asn (Ensembl:ENST00000408965) - c.500G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086276533 | 167 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.645) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000008.11:g.47737622T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737622T>G Locations: - p.Ser167Arg (Ensembl:ENST00000408965) - c.499A>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086276423 | 167 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.645) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000008.11:g.47737620G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737620G>T Locations: - p.Ser167Arg (Ensembl:ENST00000408965) - c.501C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs867621033 | 168 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.266) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000008.11:g.47737619G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737619G>C Locations: - p.Pro168Ala (Ensembl:ENST00000408965) - c.502C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs867621033 | 168 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47737619G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737619G>A Locations: - p.Pro168Ser (Ensembl:ENST00000408965) - c.502C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs777407313 | 169 | R>G | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000008.11:g.47737616T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737616T>C Locations: - p.Arg169Gly (Ensembl:ENST00000408965) - c.505A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1431514229 | 170 | Q>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47737613G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737613G>T Locations: - p.Gln170Lys (Ensembl:ENST00000408965) - c.508C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1171195316 | 170 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000008.11:g.47737612T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737612T>C Locations: - p.Gln170Arg (Ensembl:ENST00000408965) - c.509A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs769172758 | 171 | T>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000008.11:g.47737609G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737609G>A Locations: - p.Thr171Ile (Ensembl:ENST00000408965) - c.512C>T (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs769172758 | 171 | T>N | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000008.11:g.47737609G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737609G>T Locations: - p.Thr171Asn (Ensembl:ENST00000408965) - c.512C>A (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1296699986 | 172 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000008.11:g.47737607G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737607G>A Locations: - p.Pro172Ser (Ensembl:ENST00000408965) - c.514C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1186313238 | 173 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000008.11:g.47737604C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737604C>G Locations: - p.Ala173Pro (Ensembl:ENST00000408965) - c.517G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs578188520 | 173 | A>V | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000008.11:g.47737603G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737603G>A Locations: - p.Ala173Val (Ensembl:ENST00000408965) - c.518C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1212650949 | 174 | P>A | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000008.11:g.47737601G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737601G>C Locations: - p.Pro174Ala (Ensembl:ENST00000408965) - c.520C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1303094726 | 174 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000008.11:g.47737600G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737600G>A Locations: - p.Pro174Leu (Ensembl:ENST00000408965) - c.521C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1212650949 | 174 | P>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000008.11:g.47737601G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737601G>T Locations: - p.Pro174Thr (Ensembl:ENST00000408965) - c.520C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1345266281 | 175 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000008.11:g.47737597C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737597C>T Locations: - p.Gly175Asp (Ensembl:ENST00000408965) - c.524G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086275764 | 175 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000008.11:g.47737598C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737598C>G Locations: - p.Gly175Arg (Ensembl:ENST00000408965) - c.523G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1023496807 | 176 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000008.11:g.47737594G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737594G>A Locations: - p.Pro176Leu (Ensembl:ENST00000408965) - c.527C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs200641900 | 177 | A>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47737591G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737591G>C Locations: - p.Ala177Gly (Ensembl:ENST00000408965) - c.530C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1460189350 | 177 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000008.11:g.47737592C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737592C>T Locations: - p.Ala177Thr (Ensembl:ENST00000408965) - c.529G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs751992177 | 178 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000008.11:g.47737588C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737588C>T Locations: - p.Arg178Gln (Ensembl:ENST00000408965) - c.533G>A (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs2086275397 | 179 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000008.11:g.47737585T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737585T>G Locations: - p.Glu179Ala (Ensembl:ENST00000408965) - c.536A>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1309209595 | 179 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000008.11:g.47737586C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737586C>T Locations: - p.Glu179Lys (Ensembl:ENST00000408965) - c.535G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1309209595 | 179 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.47737586C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737586C>G Locations: - p.Glu179Gln (Ensembl:ENST00000408965) - c.535G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086275351 | 180 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000008.11:g.47737582T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737582T>C Locations: - p.Lys180Arg (Ensembl:ENST00000408965) - c.539A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1254515068 | 181 | S>C | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47737580T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737580T>A Locations: - p.Ser181Cys (Ensembl:ENST00000408965) - c.541A>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1254515068 | 181 | S>G | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000008.11:g.47737580T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737580T>C Locations: - p.Ser181Gly (Ensembl:ENST00000408965) - c.541A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs780541037 | 181 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000008.11:g.47737579C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737579C>T Locations: - p.Ser181Asn (Ensembl:ENST00000408965) - c.542G>A (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs780541037 | 181 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000008.11:g.47737579C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737579C>G Locations: - p.Ser181Thr (Ensembl:ENST00000408965) - c.542G>C (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs2154496050 | 182 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000008.11:g.47737577C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737577C>A Locations: - p.Ala182Ser (Ensembl:ENST00000408965) - c.544G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs750673306 | 183 | G>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737574C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737574C>A Locations: - p.Gly183Cys (Ensembl:ENST00000408965) - c.547G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs750673306 | 183 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737574C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737574C>G Locations: - p.Gly183Arg (Ensembl:ENST00000408965) - c.547G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs750673306 | 183 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.304) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000008.11:g.47737574C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737574C>T Locations: - p.Gly183Ser (Ensembl:ENST00000408965) - c.547G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086275079 | 184 | K>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47737571T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737571T>G Locations: - p.Lys184Gln (Ensembl:ENST00000408965) - c.550A>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1355920699 | 184 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737570T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737570T>C Locations: - p.Lys184Arg (Ensembl:ENST00000408965) - c.551A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1314471971 | 186 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000008.11:g.47737565C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737565C>A Locations: - p.Gly186Cys (Ensembl:ENST00000408965) - c.556G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs761817545 | 186 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000008.11:g.47737564C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737564C>T Locations: - p.Gly186Asp (Ensembl:ENST00000408965) - c.557G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs761817545 | 186 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000008.11:g.47737564C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737564C>A Locations: - p.Gly186Val (Ensembl:ENST00000408965) - c.557G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1375037543 | 187 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000008.11:g.47737561G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737561G>A Locations: - p.Pro187Leu (Ensembl:ENST00000408965) - c.560C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
TCGA novel | 188 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47737558T>C Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737558T>C Locations: - c.563A>G (NCI-TCGA:ENST00000408965) - p.D188G (NCI-TCGA:ENST00000408965) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2086274713 | 189 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737556G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737556G>A Locations: - p.Arg189Cys (Ensembl:ENST00000408965) - c.565C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs767389697 | 190 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000008.11:g.47737553C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737553C>G Locations: - p.Gly190Arg (Ensembl:ENST00000408965) - c.568G>C (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs767389697 | 190 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000008.11:g.47737553C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737553C>T Locations: - p.Gly190Ser (Ensembl:ENST00000408965) - c.568G>A (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs759423146 | 191 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737550T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737550T>C Locations: - p.Ser191Gly (Ensembl:ENST00000408965) - c.571A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs770705158 | 195 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737537C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737537C>A Locations: - p.Arg195Leu (Ensembl:ENST00000408965) - c.584G>T (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs770705158 | 195 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.47737537C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737537C>G Locations: - p.Arg195Pro (Ensembl:ENST00000408965) - c.584G>C (Ensembl:ENST00000408965) Source type: large scale study | |||||||
COSV99854014 rs770705158 | 195 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000004347 (gnomAD) Accession: NC_000008.11:g.47737537C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737537C>T Locations: - p.R195Q (NCI-TCGA:ENST00000408965) - p.Arg195Gln (Ensembl:ENST00000408965) - c.584G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1256303661 | 197 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737531C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737531C>T Locations: - p.Arg197Gln (Ensembl:ENST00000408965) - c.590G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086274250 | 197 | R>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737532G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737532G>A Locations: - p.Arg197Trp (Ensembl:ENST00000408965) - c.589C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs772748708 | 199 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737524C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737524C>G Locations: - p.Glu199Asp (Ensembl:ENST00000408965) - c.597G>C (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1168596386 | 199 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737526C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737526C>T Locations: - p.Glu199Lys (Ensembl:ENST00000408965) - c.595G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1441914974 | 200 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737523G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737523G>A Locations: - p.Arg200Cys (Ensembl:ENST00000408965) - c.598C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs541685864 | 203 | I>V | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.51) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000008.11:g.47737514T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737514T>C Locations: - p.Ile203Val (Ensembl:ENST00000408965) - c.607A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1335366163 | 206 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737504C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737504C>T Locations: - p.Arg206His (Ensembl:ENST00000408965) - c.617G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs371024952 | 207 | K>* | ESP TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.47737502T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737502T>A Locations: - p.Lys207Ter (Ensembl:ENST00000408965) - c.619A>T (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs769334462 | 207 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737501T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737501T>C Locations: - p.Lys207Arg (Ensembl:ENST00000408965) - c.620A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs747489027 | 208 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737498C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737498C>T Locations: - p.Ser208Asn (Ensembl:ENST00000408965) - c.623G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1274471352 | 210 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737493C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737493C>G Locations: - p.Asp210His (Ensembl:ENST00000408965) - c.628G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs746185483 | 211 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.47737489T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737489T>C Locations: - p.Lys211Arg (Ensembl:ENST00000408965) - c.632A>G (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1462467757 | 212 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.47737487C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737487C>T Locations: - p.Ala212Thr (Ensembl:ENST00000408965) - c.634G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1397276773 | 212 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737486G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737486G>A Locations: - p.Ala212Val (Ensembl:ENST00000408965) - c.635C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs779011097 | 214 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737481G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737481G>A Locations: - p.Arg214Trp (Ensembl:ENST00000408965) - c.640C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1475050615 | 215 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737477C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737477C>T Locations: - p.Arg215His (Ensembl:ENST00000408965) - c.644G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs757464546 | 216 | N>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737474T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737474T>A Locations: - p.Asn216Ile (Ensembl:ENST00000408965) - c.647A>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1420486078 | 217 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.492) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000008.11:g.47737472G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737472G>C Locations: - p.Gln217Glu (Ensembl:ENST00000408965) - c.649C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs11539254 | 217 | Q>L | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47737471T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737471T>A Locations: - p.Gln217Leu (Ensembl:ENST00000408965) - c.650A>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs11539254 | 217 | Q>R | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.596) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47737471T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737471T>C Locations: - p.Gln217Arg (Ensembl:ENST00000408965) - c.650A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1247859798 | 218 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.662) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737468T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737468T>G Locations: - p.Glu218Ala (Ensembl:ENST00000408965) - c.653A>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1191684134 | 218 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000008.11:g.47737467C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737467C>A Locations: - p.Glu218Asp (Ensembl:ENST00000408965) - c.654G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
TCGA novel | 218 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.69) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737469C>G Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737469C>G Locations: - c.652G>C (NCI-TCGA:ENST00000408965) - p.E218Q (NCI-TCGA:ENST00000408965) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs754972536 | 219 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737464C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737464C>T Locations: - p.Met219Ile (Ensembl:ENST00000408965) - c.657G>A (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs764213974 | 219 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.797) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737466T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737466T>C Locations: - p.Met219Val (Ensembl:ENST00000408965) - c.655A>G (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs751481924 | 220 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737463G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737463G>C Locations: - p.Gln220Glu (Ensembl:ENST00000408965) - c.658C>G (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs2086272192 | 220 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737462T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737462T>G Locations: - p.Gln220Pro (Ensembl:ENST00000408965) - c.659A>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1002469612 | 221 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737460G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737460G>C Locations: - p.Gln221Glu (Ensembl:ENST00000408965) - c.661C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1279912228 | 221 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000008.11:g.47737458C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737458C>G Locations: - p.Gln221His (Ensembl:ENST00000408965) - c.663G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs766243018 | 221 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47737459T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737459T>C Locations: - p.Gln221Arg (Ensembl:ENST00000408965) - c.662A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086271921 | 222 | K>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737457T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737457T>G Locations: - p.Lys222Gln (Ensembl:ENST00000408965) - c.664A>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1306429358 | 224 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.464) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000008.11:g.47737450A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737450A>G Locations: - p.Val224Ala (Ensembl:ENST00000408965) - c.671T>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1306429358 | 224 | V>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.861) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737450A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737450A>T Locations: - p.Val224Glu (Ensembl:ENST00000408965) - c.671T>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1334174773 | 224 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47737451C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737451C>G Locations: - p.Val224Leu (Ensembl:ENST00000408965) - c.670G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1334174773 | 224 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.753) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000008.11:g.47737451C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737451C>T Locations: - p.Val224Met (Ensembl:ENST00000408965) - c.670G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1441668542 | 225 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737447T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737447T>A Locations: - p.Glu225Val (Ensembl:ENST00000408965) - c.674A>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086271410 | 228 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000008.11:g.47737439C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737439C>T Locations: - p.Ala228Thr (Ensembl:ENST00000408965) - c.682G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1373843175 | 229 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.609) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000008.11:g.47737434C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737434C>A Locations: - p.Glu229Asp (Ensembl:ENST00000408965) - c.687G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1272509153 | 231 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000008.11:g.47737428C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737428C>G Locations: - p.Glu231Asp (Ensembl:ENST00000408965) - c.693G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1466922393 | 231 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737430C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737430C>T Locations: - p.Glu231Lys (Ensembl:ENST00000408965) - c.691G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1461374113 | 234 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000008.11:g.47737420T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737420T>C Locations: - p.His234Arg (Ensembl:ENST00000408965) - c.701A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1160631093 | 235 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47737418G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737418G>T Locations: - p.Gln235Lys (Ensembl:ENST00000408965) - c.703C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086270845 | 236 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47737415G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737415G>A Locations: - p.Arg236Cys (Ensembl:ENST00000408965) - c.706C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs372603656 | 236 | R>H | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000008.11:g.47737414C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737414C>T Locations: - p.Arg236His (Ensembl:ENST00000408965) - c.707G>A (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1177485963 | 238 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.925) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737408T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737408T>C Locations: - p.Glu238Gly (Ensembl:ENST00000408965) - c.713A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086270655 | 238 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737409C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737409C>T Locations: - p.Glu238Lys (Ensembl:ENST00000408965) - c.712G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs776042936 | 239 | Q>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.47737406G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737406G>A Locations: - p.Gln239Ter (Ensembl:ENST00000408965) - c.715C>T (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs776042936 | 239 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.684) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737406G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737406G>C Locations: - p.Gln239Glu (Ensembl:ENST00000408965) - c.715C>G (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs747578653 | 239 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000008.11:g.47737404C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737404C>G Locations: - p.Gln239His (Ensembl:ENST00000408965) - c.717G>C (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1450942929 | 240 | L>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737402A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737402A>T Locations: - p.Leu240His (Ensembl:ENST00000408965) - c.719T>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs776154073 | 240 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737403G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737403G>C Locations: - p.Leu240Val (Ensembl:ENST00000408965) - c.718C>G (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs2086270255 | 242 | R>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737397G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737397G>A Locations: - p.Arg242Trp (Ensembl:ENST00000408965) - c.724C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1206635286 | 243 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737394C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737394C>G Locations: - p.Asp243His (Ensembl:ENST00000408965) - c.727G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1206635286 | 243 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737394C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737394C>T Locations: - p.Asp243Asn (Ensembl:ENST00000408965) - c.727G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1206635286 | 243 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737394C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737394C>A Locations: - p.Asp243Tyr (Ensembl:ENST00000408965) - c.727G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1249733434 | 244 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737391G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737391G>C Locations: - p.Leu244Val (Ensembl:ENST00000408965) - c.730C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs746253683 | 246 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47737384C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737384C>T Locations: - p.Gly246Asp (Ensembl:ENST00000408965) - c.737G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1235117737 | 246 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.9) - PolyPhen: benign (0) - SIFT: tolerated (0.98) Somatic: No Population frequencies: - MAF: 0.000004503 (gnomAD) Accession: NC_000008.11:g.47737385C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737385C>T Locations: - p.G246S (NCI-TCGA:ENST00000408965) - p.Gly246Ser (Ensembl:ENST00000408965) - c.736G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1301321465 | 248 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737378C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737378C>T Locations: - p.Arg248Gln (Ensembl:ENST00000408965) - c.743G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
VAR_037087 rs34948549 | 248 | R>W | Variant of uncertain significance (Ensembl) | UniProt TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Accession: NC_000008.11:g.47737379G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737379G>A Locations: - p.Arg248Trp (UniProt:P49716) Source type: mixed | |||||||
rs779290520 | 249 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000008.11:g.47737375T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737375T>C Locations: - p.Gln249Arg (Ensembl:ENST00000408965) - c.746A>G (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1297920264 | 252 | K>E | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000008.11:g.47737367T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737367T>C Locations: - p.Lys252Glu (Ensembl:ENST00000408965) - c.754A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1380835375 | 252 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737365C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737365C>A Locations: - p.Lys252Asn (Ensembl:ENST00000408965) - c.756G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs757472292 | 252 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000008.11:g.47737366T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737366T>C Locations: - p.Lys252Arg (Ensembl:ENST00000408965) - c.755A>G (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs749518684 | 253 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.47737362C>A, NC_000008.11:g.47737362C>G Codon: CAG/CAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737362C>A, NC_000008.11:g.47737362C>G Locations: - p.Gln253His (Ensembl:ENST00000408965) - c.759G>T (Ensembl:ENST00000408965) - c.759G>C (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs537387769 | 254 | L>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000008.11:g.47737361G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737361G>T Locations: - p.Leu254Met (Ensembl:ENST00000408965) - c.760C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1370665503 | 255 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737358G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737358G>C Locations: - p.Pro255Ala (Ensembl:ENST00000408965) - c.763C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
TCGA novel | 255 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737357G>A Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737357G>A Locations: - c.764C>T (NCI-TCGA:ENST00000408965) - p.P255L (NCI-TCGA:ENST00000408965) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2086268939 | 255 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737357G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737357G>C Locations: - p.Pro255Arg (Ensembl:ENST00000408965) - c.764C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1370665503 | 255 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737358G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737358G>A Locations: - p.Pro255Ser (Ensembl:ENST00000408965) - c.763C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs752703091 | 256 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000008.11:g.47737355T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737355T>C Locations: - p.Ser256Gly (Ensembl:ENST00000408965) - c.766A>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs766334986 | 256 | S>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47737354C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737354C>A Locations: - p.Ser256Ile (Ensembl:ENST00000408965) - c.767G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs752703091 | 256 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000008.11:g.47737355T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737355T>G Locations: - p.Ser256Arg (Ensembl:ENST00000408965) - c.766A>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs758306982 | 256 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000008.11:g.47737353G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737353G>C Locations: - p.Ser256Arg (Ensembl:ENST00000408965) - c.768C>G (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1484117605 | 257 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47737352G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737352G>A Locations: - p.Pro257Ser (Ensembl:ENST00000408965) - c.769C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs750232943 | 258 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.581) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737348G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737348G>T Locations: - p.Pro258His (Ensembl:ENST00000408965) - c.773C>A (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs918710392 | 258 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47737349G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737349G>A Locations: - p.Pro258Ser (Ensembl:ENST00000408965) - c.772C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs765048834 | 261 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47737339G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737339G>A Locations: - p.Pro261Leu (Ensembl:ENST00000408965) - c.782C>T (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs765048834 | 261 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000008.11:g.47737339G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737339G>C Locations: - p.Pro261Arg (Ensembl:ENST00000408965) - c.782C>G (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs1211937785 | 263 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000008.11:g.47737334C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737334C>A Locations: - p.Ala263Ser (Ensembl:ENST00000408965) - c.787G>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1211937785 | 263 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000008.11:g.47737334C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737334C>T Locations: - p.Ala263Thr (Ensembl:ENST00000408965) - c.787G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs776334795 | 263 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000008.11:g.47737333G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737333G>A Locations: - p.Ala263Val (Ensembl:ENST00000408965) - c.788C>T (Ensembl:ENST00000408965) Source type: large scale study | |||||||
rs2154496019 | 266 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000008.11:g.47737325C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737325C>T Locations: - p.Ala266Thr (Ensembl:ENST00000408965) - c.796G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086267964 | 266 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000008.11:g.47737324G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737324G>A Locations: - p.Ala266Val (Ensembl:ENST00000408965) - c.797C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs775104747 | 267 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737322C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737322C>G Locations: - p.Asp267His (Ensembl:ENST00000408965) - c.799G>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1280978984 | 268 | C>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.47737317G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737317G>T Locations: - p.Cys268Ter (Ensembl:ENST00000408965) - c.804C>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs970005166 | 269 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737315C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737315C>T Locations: - p.Arg269Gln (Ensembl:ENST00000408965) - c.806G>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs1225873890 | 269 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47737316G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737316G>A Locations: - p.Arg269Trp (Ensembl:ENST00000408965) - c.805C>T (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086267581 | 270 | *>K | TOPMed | ||||
Consequence: stop lost Somatic: No Accession: NC_000008.11:g.47737313A>T Codon: TAA/AAA Consequence type: stop lost Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737313A>T Locations: - p.Ter270LysextTer61 (Ensembl:ENST00000408965) - c.808T>A (Ensembl:ENST00000408965) Source type: large scale study Cross-references: | |||||||
rs2086267581 | 270 | *>Q | TOPMed | ||||
Consequence: stop lost Somatic: No Accession: NC_000008.11:g.47737313A>G Codon: TAA/CAA Consequence type: stop lost Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47737313A>G Locations: - p.Ter270GlnextTer61 (Ensembl:ENST00000408965) - c.808T>C (Ensembl:ENST00000408965) Source type: large scale study Cross-references: |