A0A494C114 · A0A494C114_HUMAN
- ProteinNeuregulin 1
- GeneNRG1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids207 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs750882750 | 2 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548731C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548731C>G Locations: - p.Ser2Cys (Ensembl:ENST00000650967) - c.5C>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs867811897 | 3 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.32548733G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548733G>T Locations: - p.Glu3Ter (Ensembl:ENST00000650967) - c.7G>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1366669535 | 3 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000008.11:g.32548735G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548735G>C Locations: - p.Glu3Asp (Ensembl:ENST00000650967) - c.9G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs867811897 | 3 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548733G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548733G>C Locations: - p.Glu3Gln (Ensembl:ENST00000650967) - c.7G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs947807518 | 4 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548736C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548736C>T Locations: - p.Arg4Cys (Ensembl:ENST00000650967) - c.10C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs868078016 | 4 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548737G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548737G>A Locations: - p.Arg4His (Ensembl:ENST00000650967) - c.11G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs149698443 | 6 | E>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548742G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548742G>A Locations: - p.Glu6Lys (Ensembl:ENST00000650967) - c.16G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs149698443 | 6 | E>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548742G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548742G>C Locations: - p.Glu6Gln (Ensembl:ENST00000650967) - c.16G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1305077997 | 8 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.99) Somatic: No Accession: NC_000008.11:g.32548749G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548749G>A Locations: - p.Arg8Lys (Ensembl:ENST00000650967) - c.23G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1833456682 | 8 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548750A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548750A>T Locations: - p.Arg8Ser (Ensembl:ENST00000650967) - c.24A>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1305077997 | 8 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548749G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548749G>C Locations: - p.Arg8Thr (Ensembl:ENST00000650967) - c.23G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1366426588 | 9 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548751G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548751G>C Locations: - p.Gly9Arg (Ensembl:ENST00000650967) - c.25G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1366426588 | 9 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000008.11:g.32548751G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548751G>A Locations: - p.Gly9Ser (Ensembl:ENST00000650967) - c.25G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs145494159 | 10 | K>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548754A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548754A>G Locations: - p.Lys10Glu (Ensembl:ENST00000650967) - c.28A>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
CA225649 RCV000084681 rs367543159 | 10 | K>N | ClinGen ClinVar TOPMed dbSNP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000008.11:g.32548756A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548756A>C Locations: - p.Lys10Asn (Ensembl:ENST00000650967) - c.30A>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV55154873 rs755224827 | 11 | G>E | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32548758G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548758G>A Locations: - p.Gly11Glu (Ensembl:ENST00000650967) - c.32G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1375896341 | 11 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.32548757G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548757G>A Locations: - p.Gly11Arg (Ensembl:ENST00000650967) - c.31G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs755224827 | 11 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548758G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548758G>T Locations: - p.Gly11Val (Ensembl:ENST00000650967) - c.32G>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs777747873 | 12 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548760A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548760A>G Locations: - p.Lys12Glu (Ensembl:ENST00000650967) - c.34A>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs749066061 | 12 | K>N | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548762G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548762G>T Locations: - p.Lys12Asn (Ensembl:ENST00000650967) - c.36G>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs777747873 | 12 | K>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548760A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548760A>C Locations: - p.Lys12Gln (Ensembl:ENST00000650967) - c.34A>C (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1833461481 | 12 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548761A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548761A>C Locations: - p.Lys12Thr (Ensembl:ENST00000650967) - c.35A>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1020474765 | 15 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548771G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548771G>T Locations: - p.Lys15Asn (Ensembl:ENST00000650967) - c.45G>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1479355558 | 16 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548774G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548774G>T Locations: - p.Lys16Asn (Ensembl:ENST00000650967) - c.48G>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs778722814 | 18 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548778C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548778C>G Locations: - p.Arg18Gly (Ensembl:ENST00000650967) - c.52C>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1234290009 | 18 | R>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.32548779G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548779G>C Locations: - p.Arg18Pro (Ensembl:ENST00000650967) - c.53G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs967578792 | 19 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548782G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548782G>C Locations: - p.Gly19Ala (Ensembl:ENST00000650967) - c.56G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs967578792 | 19 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548782G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548782G>A Locations: - p.Gly19Asp (Ensembl:ENST00000650967) - c.56G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs745817489 | 19 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548781G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548781G>C Locations: - p.Gly19Arg (Ensembl:ENST00000650967) - c.55G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs745817489 | 19 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548781G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548781G>A Locations: - p.Gly19Ser (Ensembl:ENST00000650967) - c.55G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1181116588 | 20 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548785C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548785C>G Locations: - p.Ser20Cys (Ensembl:ENST00000650967) - c.59C>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs774960072 | 21 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000008.11:g.32548788G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548788G>C Locations: - p.Gly21Ala (Ensembl:ENST00000650967) - c.62G>C (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs774960072 | 21 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.32548788G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548788G>A Locations: - p.Gly21Asp (Ensembl:ENST00000650967) - c.62G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs367872093 | 21 | G>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000008.11:g.32548787G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548787G>A Locations: - p.Gly21Ser (Ensembl:ENST00000650967) - c.61G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1385878351 | 22 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.32548792G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548792G>C Locations: - p.Lys22Asn (Ensembl:ENST00000650967) - c.66G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs760361259 | 23 | K>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548794A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548794A>C Locations: - p.Lys23Thr (Ensembl:ENST00000650967) - c.68A>C (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs997488097 | 24 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.32548797C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548797C>T Locations: - p.Pro24Leu (Ensembl:ENST00000650967) - c.71C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1833473584 | 25 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000008.11:g.32548799G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548799G>C Locations: - p.Glu25Gln (Ensembl:ENST00000650967) - c.73G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1833475271 | 26 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000008.11:g.32548802T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548802T>C Locations: - p.Ser26Pro (Ensembl:ENST00000650967) - c.76T>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs867284920 | 26 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548803C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548803C>A Locations: - p.Ser26Tyr (Ensembl:ENST00000650967) - c.77C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV105851032 rs1443353672 | 27 | A>E | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000008.11:g.32548806C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548806C>A Locations: - p.Ala27Glu (Ensembl:ENST00000650967) - c.80C>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1443353672 | 27 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548806C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548806C>T Locations: - p.Ala27Val (Ensembl:ENST00000650967) - c.80C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV106377111 rs1833480271 | 28 | A>V | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.304) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000008.11:g.32548809C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548809C>T Locations: - p.Ala28Val (Ensembl:ENST00000650967) - c.83C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1454997414 | 29 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.297) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.32548812G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548812G>A Locations: - p.Gly29Asp (Ensembl:ENST00000650967) - c.86G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1381218746 | 29 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.32548811G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548811G>A Locations: - p.Gly29Ser (Ensembl:ENST00000650967) - c.85G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1454997414 | 29 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.371) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548812G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548812G>T Locations: - p.Gly29Val (Ensembl:ENST00000650967) - c.86G>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs978995453 | 30 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.32548815G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548815G>T Locations: - p.Ser30Ile (Ensembl:ENST00000650967) - c.89G>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1316358388 | 30 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.32548814A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548814A>C Locations: - p.Ser30Arg (Ensembl:ENST00000650967) - c.88A>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs762097528 | 30 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.32548816C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548816C>A Locations: - p.Ser30Arg (Ensembl:ENST00000650967) - c.90C>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1833484624 | 31 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000008.11:g.32548817C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548817C>A Locations: - p.Gln31Lys (Ensembl:ENST00000650967) - c.91C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs765569877 | 32 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000008.11:g.32548820A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548820A>G Locations: - p.Ser32Gly (Ensembl:ENST00000650967) - c.94A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs750959316 | 32 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548821G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548821G>T Locations: - p.Ser32Ile (Ensembl:ENST00000650967) - c.95G>T (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs750959316 | 32 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.173) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548821G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548821G>A Locations: - p.Ser32Asn (Ensembl:ENST00000650967) - c.95G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs763502608 | 33 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32548824C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32548824C>T Locations: - p.Pro33Leu (Ensembl:ENST00000650967) - c.98C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs768095816 | 37 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595836C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595836C>T Locations: - p.Pro37Ser (Ensembl:ENST00000650967) - c.109C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs3924999 | 38 | R>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595840G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595840G>C Locations: - p.Arg38Pro (Ensembl:ENST00000650967) - c.113G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
VAR_009307 COSV55177787 rs3924999 | 38 | R>Q | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.32595840G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595840G>A Locations: - p.Arg38Gln (UniProt:Q02297) - p.Arg38Gln (Ensembl:ENST00000650967) - c.113G>A (Ensembl:ENST00000650967) Source type: mixed | |||||||
rs1426481442 | 41 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595848G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595848G>A Locations: - p.Glu41Lys (Ensembl:ENST00000650967) - c.121G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1017227480 | 42 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595853G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595853G>T Locations: - p.Met42Ile (Ensembl:ENST00000650967) - c.126G>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1843254262 | 42 | M>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.32595851A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595851A>T Locations: - p.Met42Leu (Ensembl:ENST00000650967) - c.124A>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1280914511 | 44 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595857A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595857A>T Locations: - p.Ser44Cys (Ensembl:ENST00000650967) - c.130A>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs752061693 | 46 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595864A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595864A>G Locations: - p.Glu46Gly (Ensembl:ENST00000650967) - c.137A>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
CA225651 COSV55163583 RCV000084682 rs367543160 | 47 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00003195 (gnomAD) - MAF: 0.00004 (ClinVar) Accession: NC_000008.11:g.32595867C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595867C>T Locations: - p.S47L (NCI-TCGA:ENST00000650967) - p.Ser47Leu (Ensembl:ENST00000650967) - c.140C>T (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1225335457 | 48 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000008.11:g.32595869G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595869G>A Locations: - p.Ala48Thr (Ensembl:ENST00000650967) - c.142G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs79674486 | 53 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595885T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595885T>C Locations: - p.Leu53Pro (Ensembl:ENST00000650967) - c.158T>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1260703394 | 54 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.654) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595888T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595888T>C Locations: - p.Val54Ala (Ensembl:ENST00000650967) - c.161T>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV55157563 rs764980982 | 54 | V>F | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.876) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32595887G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595887G>T Locations: - p.Val54Phe (Ensembl:ENST00000650967) - c.160G>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs764980982 | 54 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595887G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595887G>A Locations: - p.Val54Ile (Ensembl:ENST00000650967) - c.160G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs764980982 | 54 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.571) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595887G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595887G>C Locations: - p.Val54Leu (Ensembl:ENST00000650967) - c.160G>C (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1843262282 | 55 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.763) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595890C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595890C>T Locations: - p.Leu55Phe (Ensembl:ENST00000650967) - c.163C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs369794181 | 56 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.63) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595894G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595894G>T Locations: - p.Arg56Leu (Ensembl:ENST00000650967) - c.167G>T (Ensembl:ENST00000650967) Source type: large scale study | |||||||
COSV106376756 rs369794181 | 56 | R>Q | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.339) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32595894G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595894G>A Locations: - p.Arg56Gln (Ensembl:ENST00000650967) - c.167G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV55168583 rs750264919 | 56 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001195 (gnomAD) Accession: NC_000008.11:g.32595893C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595893C>T Locations: - p.R56W (NCI-TCGA:ENST00000650967) - p.Arg56Trp (Ensembl:ENST00000650967) - c.166C>T (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1843263568 | 57 | C>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.32595898T>A Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595898T>A Locations: - p.Cys57Ter (Ensembl:ENST00000650967) - c.171T>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1468926264 | 59 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595902A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595902A>G Locations: - p.Thr59Ala (Ensembl:ENST00000650967) - c.175A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1468926264 | 59 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595902A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595902A>C Locations: - p.Thr59Pro (Ensembl:ENST00000650967) - c.175A>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1225726919 | 59 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595903C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595903C>G Locations: - p.Thr59Ser (Ensembl:ENST00000650967) - c.176C>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs746880551 | 60 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.67) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.32595906G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595906G>T Locations: - p.Ser60Ile (Ensembl:ENST00000650967) - c.179G>T (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs746880551 | 60 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.797) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595906G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595906G>A Locations: - p.Ser60Asn (Ensembl:ENST00000650967) - c.179G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1046905011 | 61 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595909C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595909C>T Locations: - p.Ser61Phe (Ensembl:ENST00000650967) - c.182C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1404215322 | 62 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595911G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595911G>A Locations: - p.Glu62Lys (Ensembl:ENST00000650967) - c.184G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1300788636 | 64 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595918C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595918C>T Locations: - p.Ser64Phe (Ensembl:ENST00000650967) - c.191C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1004956712 | 65 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.777) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595921C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595921C>G Locations: - p.Ser65Cys (Ensembl:ENST00000650967) - c.194C>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1004956712 | 65 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.721) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.32595921C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595921C>T Locations: - p.Ser65Phe (Ensembl:ENST00000650967) - c.194C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs780739877 | 66 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595923C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595923C>T Locations: - p.Leu66Phe (Ensembl:ENST00000650967) - c.196C>T (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs780739877 | 66 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595923C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595923C>G Locations: - p.Leu66Val (Ensembl:ENST00000650967) - c.196C>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs866533828 | 67 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.73) Somatic: No Accession: NC_000008.11:g.32595927G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595927G>A Locations: - p.Arg67Lys (Ensembl:ENST00000650967) - c.200G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs747804470 | 69 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.742) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595932A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595932A>C Locations: - p.Lys69Gln (Ensembl:ENST00000650967) - c.205A>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs769452176 | 69 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.32595933A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595933A>G Locations: - p.Lys69Arg (Ensembl:ENST00000650967) - c.206A>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1444140488 | 70 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595937G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595937G>T Locations: - p.Trp70Cys (Ensembl:ENST00000650967) - c.210G>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs112121976 | 71 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.493) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595938T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595938T>C Locations: - p.Phe71Leu (Ensembl:ENST00000650967) - c.211T>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1245337405 | 73 | N>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595944A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595944A>C Locations: - p.Asn73His (Ensembl:ENST00000650967) - c.217A>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs772695622 | 73 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595946T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595946T>G Locations: - p.Asn73Lys (Ensembl:ENST00000650967) - c.219T>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs749690045 | 75 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000008.11:g.32595951A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595951A>G Locations: - p.Asn75Ser (Ensembl:ENST00000650967) - c.224A>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs548188155 | 77 | L>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595957T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595957T>C Locations: - p.Leu77Ser (Ensembl:ENST00000650967) - c.230T>C (Ensembl:ENST00000650967) Source type: large scale study | |||||||
COSV105850980 RCV000999022 RCV004030248 rs201451670 | 78 | N>I | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000008.11:g.32595960A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595960A>T Locations: - p.Asn78Ile (Ensembl:ENST00000650967) - c.233A>T (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs201451670 | 78 | N>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000008.11:g.32595960A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595960A>G Locations: - p.Asn78Ser (Ensembl:ENST00000650967) - c.233A>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1184480658 | 79 | R>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.32595962C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595962C>T Locations: - p.Arg79Ter (Ensembl:ENST00000650967) - c.235C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV55153761 rs1233929760 | 79 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.237) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32595963G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595963G>A Locations: - p.R79Q (NCI-TCGA:ENST00000650967) - p.Arg79Gln (Ensembl:ENST00000650967) - c.236G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1161118182 | 81 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595970C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595970C>A Locations: - p.Asn81Lys (Ensembl:ENST00000650967) - c.243C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1843279782 | 83 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595974C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595974C>A Locations: - p.Pro83Thr (Ensembl:ENST00000650967) - c.247C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1563732607 | 85 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595980A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595980A>G Locations: - p.Asn85Asp (Ensembl:ENST00000650967) - c.253A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1466376427 | 86 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595983A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595983A>C Locations: - p.Ile86Leu (Ensembl:ENST00000650967) - c.256A>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1386498009 | 86 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.652) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595984T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595984T>C Locations: - p.Ile86Thr (Ensembl:ENST00000650967) - c.257T>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1424748851 | 88 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32595991A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595991A>G Locations: - p.Ile88Met (Ensembl:ENST00000650967) - c.264A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1168732910 | 89 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000008.11:g.32595993A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595993A>G Locations: - p.Gln89Arg (Ensembl:ENST00000650967) - c.266A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs775609145 | 91 | K>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.32595998A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595998A>T Locations: - p.Lys91Ter (Ensembl:ENST00000650967) - c.271A>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs879244332 | 91 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000008.11:g.32595999A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32595999A>G Locations: - p.Lys91Arg (Ensembl:ENST00000650967) - c.272A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1256549150 | 92 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32596001C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32596001C>T Locations: - p.Pro92Ser (Ensembl:ENST00000650967) - c.274C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1188246088 | 93 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32596005G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32596005G>A Locations: - p.Gly93Glu (Ensembl:ENST00000650967) - c.278G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1203746025 | 94 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605564A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605564A>C Locations: - p.Lys94Thr (Ensembl:ENST00000650967) - c.281A>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs764015527 | 96 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000003987 (gnomAD) Accession: NC_000008.11:g.32605571A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605571A>C Locations: - p.E96D (NCI-TCGA:ENST00000650967) - p.Glu96Asp (Ensembl:ENST00000650967) - c.288A>C (Ensembl:ENST00000650967) Source type: large scale study | |||||||
COSV55167026 COSV55174404 rs146885321 | 98 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA Cosmic ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00005184 (gnomAD) Accession: NC_000008.11:g.32605575C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605575C>T Locations: - p.R98C (NCI-TCGA:ENST00000650967) - p.Arg98Cys (Ensembl:ENST00000650967) - c.292C>T (Ensembl:ENST00000650967) Source type: large scale study | |||||||
COSV55170695 rs762008628 | 98 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.000003988 (gnomAD) Accession: NC_000008.11:g.32605576G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605576G>A Locations: - p.R98H (NCI-TCGA:ENST00000650967) - p.Arg98His (Ensembl:ENST00000650967) - c.293G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs762008628 | 98 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.32605576G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605576G>T Locations: - p.Arg98Leu (Ensembl:ENST00000650967) - c.293G>T (Ensembl:ENST00000650967) Source type: large scale study | |||||||
COSV55174404 rs146885321 | 98 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.513) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32605575C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605575C>A Locations: - p.R98S (NCI-TCGA:ENST00000650967) - p.Arg98Ser (Ensembl:ENST00000650967) - c.292C>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1845128166 | 99 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.562) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605578A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605578A>G Locations: - p.Ile99Val (Ensembl:ENST00000650967) - c.295A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs148350929 | 102 | A>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605587G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605587G>A Locations: - p.Ala102Thr (Ensembl:ENST00000650967) - c.304G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs752516072 | 103 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000008.11:g.32605590T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605590T>A Locations: - p.Ser103Thr (Ensembl:ENST00000650967) - c.307T>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1845130760 | 105 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.32605596G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605596G>A Locations: - p.Ala105Thr (Ensembl:ENST00000650967) - c.313G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs866780402 | 105 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605597C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605597C>T Locations: - p.Ala105Val (Ensembl:ENST00000650967) - c.314C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1157465580 | 109 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605610G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605610G>C Locations: - p.Glu109Asp (Ensembl:ENST00000650967) - c.327G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
RCV001376152 rs777137810 | 111 | M>T | Hereditary spastic paraplegia (ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000008.11:g.32605615T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605615T>C Locations: - p.Met111Thr (Ensembl:ENST00000650967) - c.332T>C (Ensembl:ENST00000650967) Disease association: - Hereditary spastic paraplegia Source type: large scale study Cross-references: | |||||||
rs1845132849 | 113 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000008.11:g.32605621A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605621A>G Locations: - p.Lys113Arg (Ensembl:ENST00000650967) - c.338A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1845133262 | 114 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.211) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605624T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605624T>G Locations: - p.Val114Gly (Ensembl:ENST00000650967) - c.341T>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1845133638 | 116 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605631C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605631C>A Locations: - p.Ser116Arg (Ensembl:ENST00000650967) - c.348C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1428189069 | 119 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605639G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605639G>A Locations: - p.Gly119Glu (Ensembl:ENST00000650967) - c.356G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1845134322 | 120 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605641A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605641A>G Locations: - p.Asn120Asp (Ensembl:ENST00000650967) - c.358A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs868780278 | 123 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605650G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605650G>T Locations: - p.Ala123Ser (Ensembl:ENST00000650967) - c.367G>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs868780278 | 123 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.32605650G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605650G>A Locations: - p.Ala123Thr (Ensembl:ENST00000650967) - c.367G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs750894809 | 125 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605657C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605657C>T Locations: - p.Ala125Val (Ensembl:ENST00000650967) - c.374C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs200936130 | 126 | N>S | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.32605660A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605660A>G Locations: - p.Asn126Ser (Ensembl:ENST00000650967) - c.377A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1845137117 | 127 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605662A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605662A>G Locations: - p.Ile127Val (Ensembl:ENST00000650967) - c.379A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs753596475 | 128 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605666C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605666C>A Locations: - p.Thr128Asn (Ensembl:ENST00000650967) - c.383C>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs150434062 | 129 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605668A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605668A>G Locations: - p.Ile129Val (Ensembl:ENST00000650967) - c.385A>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
COSV99828919 rs372445359 | 130 | V>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32605671G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605671G>A Locations: - p.Val130Met (Ensembl:ENST00000650967) - c.388G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1345163148 | 131 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32605675A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605675A>C Locations: - p.Glu131Ala (Ensembl:ENST00000650967) - c.392A>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV55157810 rs1845139426 | 131 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32605674G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605674G>A Locations: - p.E131K (NCI-TCGA:ENST00000650967) - p.Glu131Lys (Ensembl:ENST00000650967) - c.391G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV55171785 rs374418193 | 133 | N>K | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32605682C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605682C>A Locations: - p.Asn133Lys (Ensembl:ENST00000650967) - c.399C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
CM133118 COSV55155207 rs78513616 rs78513616,CM133118 | 134 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA cosmic curated ESP TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001199 (gnomAD) Accession: NC_000008.11:g.32605683G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32605683G>A Locations: - p.A134T (NCI-TCGA:ENST00000650967) - p.Ala134Thr (Ensembl:ENST00000650967) - c.400G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: - NCI-TCGA: CM133118 | |||||||
rs1589448464 | 135 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.331) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000008.11:g.32727951A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727951A>G Locations: - p.Thr135Ala (Ensembl:ENST00000650967) - c.403A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV99827983 rs76810404 | 136 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32727955C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727955C>A Locations: - p.S136Y (NCI-TCGA:ENST00000650967) - p.Ser136Tyr (Ensembl:ENST00000650967) - c.407C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1259295131 | 137 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.742) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.32727957A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727957A>G Locations: - p.Thr137Ala (Ensembl:ENST00000650967) - c.409A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV55152517 rs947907187 | 137 | T>I | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32727958C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727958C>T Locations: - p.Thr137Ile (Ensembl:ENST00000650967) - c.410C>T (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs779965848 | 138 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32727961C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727961C>T Locations: - p.Ser138Phe (Ensembl:ENST00000650967) - c.413C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs779965848 | 138 | S>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.657) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32727961C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727961C>A Locations: - p.Ser138Tyr (Ensembl:ENST00000650967) - c.413C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs746763346 | 139 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32727963A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727963A>G Locations: - p.Thr139Ala (Ensembl:ENST00000650967) - c.415A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs868515602 | 139 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32727964C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727964C>T Locations: - p.Thr139Ile (Ensembl:ENST00000650967) - c.416C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs371167537 | 140 | T>I | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.32727967C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727967C>T Locations: - p.Thr140Ile (Ensembl:ENST00000650967) - c.419C>T (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs371167537 | 140 | T>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000008.11:g.32727967C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727967C>G Locations: - p.Thr140Ser (Ensembl:ENST00000650967) - c.419C>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
COSV55175783 rs1157109442 | 141 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32727970G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727970G>A Locations: - p.G141E (NCI-TCGA:ENST00000650967) - p.Gly141Glu (Ensembl:ENST00000650967) - c.422G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
COSV55157135 rs555525050 | 141 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.67) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32727969G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727969G>A Locations: - p.G141R (NCI-TCGA:ENST00000650967) - p.Gly141Arg (Ensembl:ENST00000650967) - c.421G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1478691742 | 142 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.000003979 (gnomAD) Accession: NC_000008.11:g.32727972A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727972A>G Locations: - p.T142A (NCI-TCGA:ENST00000650967) - p.Thr142Ala (Ensembl:ENST00000650967) - c.424A>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1194265763 | 142 | T>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32727973C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727973C>A Locations: - p.Thr142Lys (Ensembl:ENST00000650967) - c.425C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs115604365 | 144 | H>Q | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32727980T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727980T>G Locations: - p.His144Gln (Ensembl:ENST00000650967) - c.432T>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs935253685 | 144 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32727979A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727979A>G Locations: - p.His144Arg (Ensembl:ENST00000650967) - c.431A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1465600959 | 149 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.143) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32727994C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727994C>A Locations: - p.Ala149Glu (Ensembl:ENST00000650967) - c.446C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV99828750 rs1822655447 | 150 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32727996G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32727996G>A Locations: - p.E150K (NCI-TCGA:ENST00000650967) - p.Glu150Lys (Ensembl:ENST00000650967) - c.448G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs958835742 | 154 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.32728008A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728008A>G Locations: - p.Thr154Ala (Ensembl:ENST00000650967) - c.460A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV99828994 rs769339572 | 156 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32728015G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728015G>T Locations: - p.C156F (NCI-TCGA:ENST00000650967) - p.Cys156Phe (Ensembl:ENST00000650967) - c.467G>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs769339572 | 156 | C>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32728015G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728015G>C Locations: - p.Cys156Ser (Ensembl:ENST00000650967) - c.467G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs539540040 | 157 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32728018T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728018T>C Locations: - p.Val157Ala (Ensembl:ENST00000650967) - c.470T>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1338840122 | 157 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.56) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32728017G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728017G>C Locations: - p.Val157Leu (Ensembl:ENST00000650967) - c.469G>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1822663492 | 159 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32728023G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728023G>A Locations: - p.Gly159Arg (Ensembl:ENST00000650967) - c.475G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1331104094 | 162 | C>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32728034C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728034C>G Locations: - p.Cys162Trp (Ensembl:ENST00000650967) - c.486C>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1345145720 | 164 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000008.11:g.32728040G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728040G>A Locations: - p.Met164Ile (Ensembl:ENST00000650967) - c.492G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1257176232 | 164 | M>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32728038A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728038A>C Locations: - p.Met164Leu (Ensembl:ENST00000650967) - c.490A>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV99829297 rs762642443 | 165 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000007956 (gnomAD) Accession: NC_000008.11:g.32728041G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728041G>T Locations: - p.V165L (NCI-TCGA:ENST00000650967) - p.Val165Leu (Ensembl:ENST00000650967) - c.493G>T (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs762642443 | 165 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32728041G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728041G>A Locations: - p.Val165Met (Ensembl:ENST00000650967) - c.493G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1052316840 | 167 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.797) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32728049C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728049C>A Locations: - p.Asp167Glu (Ensembl:ENST00000650967) - c.501C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs149003552 | 168 | L>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.203) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32728050C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728050C>G Locations: - p.Leu168Val (Ensembl:ENST00000650967) - c.502C>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1283496484 | 169 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32728053T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728053T>C Locations: - p.Ser169Pro (Ensembl:ENST00000650967) - c.505T>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV107289799 rs868640249 | 170 | N>H | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32728056A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728056A>C Locations: - p.Asn170His (Ensembl:ENST00000650967) - c.508A>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1822675890 | 170 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32728058C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728058C>G Locations: - p.Asn170Lys (Ensembl:ENST00000650967) - c.510C>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs765324170 | 172 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.502) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001592 (gnomAD) Accession: NC_000008.11:g.32728063C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728063C>T Locations: - p.S172L (NCI-TCGA:ENST00000650967) - p.Ser172Leu (Ensembl:ENST00000650967) - c.515C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs765324170 | 172 | S>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32728063C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728063C>G Locations: - p.Ser172Trp (Ensembl:ENST00000650967) - c.515C>G (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs1822683224 | 177 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.32728078A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32728078A>G Locations: - p.Lys177Arg (Ensembl:ENST00000650967) - c.530A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs756105629 | 180 | N>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742682A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742682A>C Locations: - p.Asn180His (Ensembl:ENST00000650967) - c.538A>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1053672648 | 180 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.366) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742683A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742683A>G Locations: - p.Asn180Ser (Ensembl:ENST00000650967) - c.539A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs777521831 | 183 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742692C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742692C>T Locations: - p.Thr183Ile (Ensembl:ENST00000650967) - c.548C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs777521831 | 183 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742692C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742692C>G Locations: - p.Thr183Ser (Ensembl:ENST00000650967) - c.548C>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV55165835 rs1255610781 | 184 | G>S | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32742694G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742694G>A Locations: - p.Gly184Ser (Ensembl:ENST00000650967) - c.550G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
COSV55160573 rs2129040224 | 186 | R>C | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32742700C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742700C>T Locations: - p.Arg186Cys (Ensembl:ENST00000650967) - c.556C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV55159804 rs1482364979 | 186 | R>H | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32742701G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742701G>A Locations: - p.Arg186His (Ensembl:ENST00000650967) - c.557G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs2129040237 | 187 | C>* | Ensembl | ||||
Consequence: missense Somatic: No Accession: NC_000008.11:g.32742705C>A Codon: TGC/TGA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742705C>A Locations: - p.Cys187Ter (Ensembl:ENST00000650967) - c.561C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs2129040235 | 187 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742704G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742704G>A Locations: - p.Cys187Tyr (Ensembl:ENST00000650967) - c.560G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs770361611 | 190 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742712T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742712T>C Locations: - p.Tyr190His (Ensembl:ENST00000650967) - c.568T>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1826633217 | 191 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.462) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742716T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742716T>C Locations: - p.Val191Ala (Ensembl:ENST00000650967) - c.572T>C (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV55149762 rs745499338 | 191 | V>I | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.409) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32742715G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742715G>A Locations: - p.Val191Ile (Ensembl:ENST00000650967) - c.571G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs2129040261 | 193 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742722C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742722C>A Locations: - p.Ala193Asp (Ensembl:ENST00000650967) - c.578C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV104600314 rs772466472 | 193 | A>T | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.397) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32742721G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742721G>A Locations: - p.Ala193Thr (Ensembl:ENST00000650967) - c.577G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs775956667 | 195 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.592) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742729C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742729C>G Locations: - p.Phe195Leu (Ensembl:ENST00000650967) - c.585C>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs2129040280 | 196 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.32742732C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742732C>A Locations: - p.Tyr196Ter (Ensembl:ENST00000650967) - c.588C>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs760901346 | 196 | Y>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742730T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742730T>A Locations: - p.Tyr196Asn (Ensembl:ENST00000650967) - c.586T>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1168488500 | 197 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.32742733A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742733A>G Locations: - p.Ser197Gly (Ensembl:ENST00000650967) - c.589A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs2129040289 | 197 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.32742734G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742734G>A Locations: - p.Ser197Asn (Ensembl:ENST00000650967) - c.590G>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV55174615 rs764678705 | 198 | T>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32742737C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742737C>T Locations: - p.Thr198Met (Ensembl:ENST00000650967) - c.593C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1467203084 | 199 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742740C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742740C>T Locations: - p.Ser199Phe (Ensembl:ENST00000650967) - c.596C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1051730009 | 200 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742742A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742742A>G Locations: - p.Thr200Ala (Ensembl:ENST00000650967) - c.598A>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1313134472 | 200 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742743C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742743C>T Locations: - p.Thr200Ile (Ensembl:ENST00000650967) - c.599C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs1339572843 | 201 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.32742745C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742745C>G Locations: - p.Pro201Ala (Ensembl:ENST00000650967) - c.601C>G (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
COSV55170332 rs1339572843 | 201 | P>T | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.32742745C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742745C>A Locations: - p.Pro201Thr (Ensembl:ENST00000650967) - c.601C>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs776939550 | 202 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742750T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742750T>A Locations: - p.Phe202Leu (Ensembl:ENST00000650967) - c.606T>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs762055402 | 204 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742754T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742754T>A Locations: - p.Ser204Thr (Ensembl:ENST00000650967) - c.610T>A (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs2129040340 | 206 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742761C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742761C>T Locations: - p.Pro206Leu (Ensembl:ENST00000650967) - c.617C>T (Ensembl:ENST00000650967) Source type: large scale study Cross-references: | |||||||
rs765398697 | 207 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742763G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742763G>A Locations: - p.Glu207Lys (Ensembl:ENST00000650967) - c.619G>A (Ensembl:ENST00000650967) Source type: large scale study | |||||||
rs765398697 | 207 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.32742763G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 8p12 Genomic location: NC_000008.11:g.32742763G>C Locations: - p.Glu207Gln (Ensembl:ENST00000650967) - c.619G>C (Ensembl:ENST00000650967) Source type: large scale study |