P42574 · CASP3_HUMAN
- ProteinCaspase-3
- GeneCASP3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids277 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV57724835 | 1 | M>? | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184638451C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184638451C>T Locations: - p.Met1? (cosmic curated:ENST00000523916) - c.3G>A (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs749601817 | 3 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000004.12:g.184638445G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638445G>T Locations: - p.Asn3Lys (Ensembl:ENST00000308394) - c.9C>A (Ensembl:ENST00000308394) - p.Asn3Lys (Ensembl:ENST00000523916) - c.9C>A (Ensembl:ENST00000523916) - p.Asn3Lys (Ensembl:ENST00000700100) - c.9C>A (Ensembl:ENST00000700100) - p.Asn3Lys (Ensembl:ENST00000700101) - c.9C>A (Ensembl:ENST00000700101) Source type: large scale study | |||||||
rs1459765876 | 4 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000004.12:g.184638444T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638444T>C Locations: - p.Thr4Ala (Ensembl:ENST00000700100) - c.10A>G (Ensembl:ENST00000700100) - p.Thr4Ala (Ensembl:ENST00000523916) - c.10A>G (Ensembl:ENST00000523916) - p.Thr4Ala (Ensembl:ENST00000308394) - c.10A>G (Ensembl:ENST00000308394) - p.Thr4Ala (Ensembl:ENST00000700101) - c.10A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1472060631 | 4 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000004.12:g.184638443G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638443G>A Locations: - p.Thr4Ile (Ensembl:ENST00000308394) - c.11C>T (Ensembl:ENST00000308394) - p.Thr4Ile (Ensembl:ENST00000523916) - c.11C>T (Ensembl:ENST00000523916) - p.Thr4Ile (Ensembl:ENST00000700100) - c.11C>T (Ensembl:ENST00000700100) - p.Thr4Ile (Ensembl:ENST00000700101) - c.11C>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1459765876 | 4 | T>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000004.12:g.184638444T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638444T>G Locations: - p.Thr4Pro (Ensembl:ENST00000308394) - c.10A>C (Ensembl:ENST00000308394) - p.Thr4Pro (Ensembl:ENST00000700100) - c.10A>C (Ensembl:ENST00000700100) - p.Thr4Pro (Ensembl:ENST00000523916) - c.10A>C (Ensembl:ENST00000523916) - p.Thr4Pro (Ensembl:ENST00000700101) - c.10A>C (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV108156640 rs773595817 | 5 | E>* | cosmic curated ExAC | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184638441C>A Codon: GAA/TAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638441C>A Locations: - p.Glu5Ter (Ensembl:ENST00000523916) - c.13G>T (Ensembl:ENST00000523916) - p.Glu5Ter (Ensembl:ENST00000700101) - c.13G>T (Ensembl:ENST00000700101) - p.Glu5Ter (Ensembl:ENST00000308394) - c.13G>T (Ensembl:ENST00000308394) - p.Glu5Ter (Ensembl:ENST00000700100) - c.13G>T (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1325011265 | 7 | S>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.184638434G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638434G>A Locations: - p.Ser7Leu (Ensembl:ENST00000700101) - c.20C>T (Ensembl:ENST00000700101) - p.Ser7Leu (Ensembl:ENST00000700100) - c.20C>T (Ensembl:ENST00000700100) - p.Ser7Leu (Ensembl:ENST00000523916) - c.20C>T (Ensembl:ENST00000523916) - p.Ser7Leu (Ensembl:ENST00000308394) - c.20C>T (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs950745993 | 8 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000004.12:g.184638432C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638432C>G Locations: - p.Val8Leu (Ensembl:ENST00000308394) - c.22G>C (Ensembl:ENST00000308394) - p.Val8Leu (Ensembl:ENST00000523916) - c.22G>C (Ensembl:ENST00000523916) - p.Val8Leu (Ensembl:ENST00000700101) - c.22G>C (Ensembl:ENST00000700101) - p.Val8Leu (Ensembl:ENST00000700100) - c.22G>C (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs950745993 | 8 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.184638432C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638432C>T Locations: - p.Val8Met (Ensembl:ENST00000308394) - c.22G>A (Ensembl:ENST00000308394) - p.Val8Met (Ensembl:ENST00000523916) - c.22G>A (Ensembl:ENST00000523916) - p.Val8Met (Ensembl:ENST00000700100) - c.22G>A (Ensembl:ENST00000700100) - p.Val8Met (Ensembl:ENST00000700101) - c.22G>A (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1194930579 | 9 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.432) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184638427A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638427A>C Locations: - p.Asp9Glu (Ensembl:ENST00000700100) - c.27T>G (Ensembl:ENST00000700100) - p.Asp9Glu (Ensembl:ENST00000308394) - c.27T>G (Ensembl:ENST00000308394) - p.Asp9Glu (Ensembl:ENST00000523916) - c.27T>G (Ensembl:ENST00000523916) - p.Asp9Glu (Ensembl:ENST00000700101) - c.27T>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1436898555 | 11 | K>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.819) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184638422T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638422T>A Locations: - p.Lys11Ile (Ensembl:ENST00000523916) - c.32A>T (Ensembl:ENST00000523916) - p.Lys11Ile (Ensembl:ENST00000700101) - c.32A>T (Ensembl:ENST00000700101) - p.Lys11Ile (Ensembl:ENST00000700100) - c.32A>T (Ensembl:ENST00000700100) - p.Lys11Ile (Ensembl:ENST00000308394) - c.32A>T (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
COSV100395069 | 12 | S>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184638420A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184638420A>C Locations: - p.Ser12Ala (cosmic curated:ENST00000523916) - c.34T>G (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs201285392 | 13 | I>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.184638416A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638416A>C Locations: - p.Ile13Ser (Ensembl:ENST00000308394) - c.38T>G (Ensembl:ENST00000308394) - p.Ile13Ser (Ensembl:ENST00000523916) - c.38T>G (Ensembl:ENST00000523916) - p.Ile13Ser (Ensembl:ENST00000700100) - c.38T>G (Ensembl:ENST00000700100) - p.Ile13Ser (Ensembl:ENST00000700101) - c.38T>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1489468017 | 13 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.184638417T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638417T>C Locations: - p.Ile13Val (Ensembl:ENST00000308394) - c.37A>G (Ensembl:ENST00000308394) - p.Ile13Val (Ensembl:ENST00000523916) - c.37A>G (Ensembl:ENST00000523916) - p.Ile13Val (Ensembl:ENST00000700101) - c.37A>G (Ensembl:ENST00000700101) - p.Ile13Val (Ensembl:ENST00000700100) - c.37A>G (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
COSV57724870 rs747108081 | 18 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000004.12:g.184638401G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638401G>A Locations: - p.Pro18Leu (Ensembl:ENST00000308394) - c.53C>T (Ensembl:ENST00000308394) - p.Pro18Leu (Ensembl:ENST00000523916) - c.53C>T (Ensembl:ENST00000523916) - p.Pro18Leu (Ensembl:ENST00000700100) - c.53C>T (Ensembl:ENST00000700100) - p.Pro18Leu (Ensembl:ENST00000700101) - c.53C>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV57725511 rs755080452 | 18 | P>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.76) Somatic: Yes Accession: NC_000004.12:g.184638402G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638402G>A Locations: - p.Pro18Ser (Ensembl:ENST00000308394) - c.52C>T (Ensembl:ENST00000308394) - p.Pro18Ser (Ensembl:ENST00000700100) - c.52C>T (Ensembl:ENST00000700100) - p.Pro18Ser (Ensembl:ENST00000700101) - c.52C>T (Ensembl:ENST00000700101) - p.Pro18Ser (Ensembl:ENST00000523916) - c.52C>T (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs755080452 | 18 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.184638402G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184638402G>T Locations: - p.Pro18Thr (Ensembl:ENST00000700100) - c.52C>A (Ensembl:ENST00000700100) - p.Pro18Thr (Ensembl:ENST00000308394) - c.52C>A (Ensembl:ENST00000308394) - p.Pro18Thr (Ensembl:ENST00000700101) - c.52C>A (Ensembl:ENST00000700101) - p.Pro18Thr (Ensembl:ENST00000523916) - c.52C>A (Ensembl:ENST00000523916) Source type: large scale study | |||||||
rs527460051 | 19 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.184635416T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635416T>C Locations: - p.Lys19Arg (Ensembl:ENST00000308394) - c.56A>G (Ensembl:ENST00000308394) - p.Lys19Arg (Ensembl:ENST00000523916) - c.56A>G (Ensembl:ENST00000523916) - p.Lys19Arg (Ensembl:ENST00000700100) - c.56A>G (Ensembl:ENST00000700100) - p.Lys19Arg (Ensembl:ENST00000700101) - c.56A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs2149971525 | 20 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000004.12:g.184635414T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635414T>G Locations: - p.Ile20Leu (Ensembl:ENST00000523916) - c.58A>C (Ensembl:ENST00000523916) - p.Ile20Leu (Ensembl:ENST00000700101) - c.58A>C (Ensembl:ENST00000700101) - p.Ile20Leu (Ensembl:ENST00000700100) - c.58A>C (Ensembl:ENST00000700100) - p.Ile20Leu (Ensembl:ENST00000308394) - c.58A>C (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs770128758 | 20 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000004.12:g.184635412G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635412G>C Locations: - p.Ile20Met (Ensembl:ENST00000700101) - c.60C>G (Ensembl:ENST00000700101) - p.Ile20Met (Ensembl:ENST00000308394) - c.60C>G (Ensembl:ENST00000308394) - p.Ile20Met (Ensembl:ENST00000700100) - c.60C>G (Ensembl:ENST00000700100) - p.Ile20Met (Ensembl:ENST00000523916) - c.60C>G (Ensembl:ENST00000523916) Source type: large scale study | |||||||
COSV108156630 | 20 | I>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184635414T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184635414T>C Locations: - p.Ile20Val (cosmic curated:ENST00000523916) - c.58A>G (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1293102297 | 21 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000004.12:g.184635411T>G Codon: ATA/CTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635411T>G Locations: - p.Ile21Leu (Ensembl:ENST00000308394) - c.61A>C (Ensembl:ENST00000308394) - p.Ile21Leu (Ensembl:ENST00000700100) - c.61A>C (Ensembl:ENST00000700100) - p.Ile21Leu (Ensembl:ENST00000523916) - c.61A>C (Ensembl:ENST00000523916) - p.Ile21Leu (Ensembl:ENST00000700101) - c.61A>C (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
VAR_048616 rs35578277 | 22 | H>R | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000004.12:g.184635407T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635407T>C Locations: - p.His22Arg (UniProt:P42574) Source type: mixed Cross-references: | |||||||
rs867332762 | 23 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184635405C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635405C>T Locations: - p.Gly23Arg (Ensembl:ENST00000700100) - c.67G>A (Ensembl:ENST00000700100) - p.Gly23Arg (Ensembl:ENST00000700101) - c.67G>A (Ensembl:ENST00000700101) - p.Gly23Arg (Ensembl:ENST00000308394) - c.67G>A (Ensembl:ENST00000308394) - p.Gly23Arg (Ensembl:ENST00000523916) - c.67G>A (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV100395013 rs776881401 | 25 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Population frequencies: - MAF: 0.00006788 (gnomAD) Accession: NC_000004.12:g.184635399C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635399C>T Locations: - p.E25K (NCI-TCGA:ENST00000308394) - p.E25K (NCI-TCGA:ENST00000523916) - p.Glu25Lys (Ensembl:ENST00000700101) - c.73G>A (Ensembl:ENST00000700101) - p.Glu25Lys (Ensembl:ENST00000308394) - c.73G>A (Ensembl:ENST00000308394) - p.Glu25Lys (Ensembl:ENST00000700100) - c.73G>A (Ensembl:ENST00000700100) - p.Glu25Lys (Ensembl:ENST00000523916) - c.73G>A (Ensembl:ENST00000523916) Source type: large scale study | |||||||
rs776881401 | 25 | E>Q | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.184635399C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635399C>G Locations: - p.Glu25Gln (Ensembl:ENST00000700101) - c.73G>C (Ensembl:ENST00000700101) - p.Glu25Gln (Ensembl:ENST00000308394) - c.73G>C (Ensembl:ENST00000308394) - p.Glu25Gln (Ensembl:ENST00000523916) - c.73G>C (Ensembl:ENST00000523916) - p.Glu25Gln (Ensembl:ENST00000700100) - c.73G>C (Ensembl:ENST00000700100) Source type: large scale study | |||||||
rs201867896 | 27 | M>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000004.12:g.184635393T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635393T>C Locations: - p.Met27Val (Ensembl:ENST00000523916) - c.79A>G (Ensembl:ENST00000523916) - p.Met27Val (Ensembl:ENST00000308394) - c.79A>G (Ensembl:ENST00000308394) - p.Met27Val (Ensembl:ENST00000700100) - c.79A>G (Ensembl:ENST00000700100) - p.Met27Val (Ensembl:ENST00000700101) - c.79A>G (Ensembl:ENST00000700101) Source type: large scale study | |||||||
rs747072648 | 29 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.423) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184635386G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635386G>A Locations: - p.Ser29Phe (Ensembl:ENST00000700100) - c.86C>T (Ensembl:ENST00000700100) - p.Ser29Phe (Ensembl:ENST00000700101) - c.86C>T (Ensembl:ENST00000700101) - p.Ser29Phe (Ensembl:ENST00000523916) - c.86C>T (Ensembl:ENST00000523916) - p.Ser29Phe (Ensembl:ENST00000308394) - c.86C>T (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1742230025 | 32 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000004.12:g.184635377G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635377G>A Locations: - p.Ser32Phe (Ensembl:ENST00000523916) - c.95C>T (Ensembl:ENST00000523916) - p.Ser32Phe (Ensembl:ENST00000308394) - c.95C>T (Ensembl:ENST00000308394) - p.Ser32Phe (Ensembl:ENST00000700101) - c.95C>T (Ensembl:ENST00000700101) - p.Ser32Phe (Ensembl:ENST00000700100) - c.95C>T (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1281685754 | 32 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000004.12:g.184635378A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635378A>G Locations: - p.Ser32Pro (Ensembl:ENST00000700101) - c.94T>C (Ensembl:ENST00000700101) - p.Ser32Pro (Ensembl:ENST00000523916) - c.94T>C (Ensembl:ENST00000523916) - p.Ser32Pro (Ensembl:ENST00000308394) - c.94T>C (Ensembl:ENST00000308394) - p.Ser32Pro (Ensembl:ENST00000700100) - c.94T>C (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1742229467 | 34 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184635371T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635371T>G Locations: - p.Asp34Ala (Ensembl:ENST00000308394) - c.101A>C (Ensembl:ENST00000308394) - p.Asp34Ala (Ensembl:ENST00000523916) - c.101A>C (Ensembl:ENST00000523916) - p.Asp34Ala (Ensembl:ENST00000700100) - c.101A>C (Ensembl:ENST00000700100) - p.Asp34Ala (Ensembl:ENST00000700101) - c.101A>C (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV100394926 | 34 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000004.12:g.184635372C>T Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635372C>T Locations: - c.100G>A (NCI-TCGA:ENST00000308394) - p.D34N (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1742229236 | 35 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000004.12:g.184635368T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635368T>C Locations: - p.Asn35Ser (Ensembl:ENST00000700101) - c.104A>G (Ensembl:ENST00000700101) - p.Asn35Ser (Ensembl:ENST00000523916) - c.104A>G (Ensembl:ENST00000523916) - p.Asn35Ser (Ensembl:ENST00000308394) - c.104A>G (Ensembl:ENST00000308394) - p.Asn35Ser (Ensembl:ENST00000700100) - c.104A>G (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs368927854 | 38 | K>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000004.12:g.184635358T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635358T>G Locations: - p.Lys38Asn (Ensembl:ENST00000308394) - c.114A>C (Ensembl:ENST00000308394) - p.Lys38Asn (Ensembl:ENST00000523916) - c.114A>C (Ensembl:ENST00000523916) - p.Lys38Asn (Ensembl:ENST00000700101) - c.114A>C (Ensembl:ENST00000700101) - p.Lys38Asn (Ensembl:ENST00000700100) - c.114A>C (Ensembl:ENST00000700100) Source type: large scale study | |||||||
rs1742228517 | 38 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000004.12:g.184635359T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635359T>C Locations: - p.Lys38Arg (Ensembl:ENST00000523916) - c.113A>G (Ensembl:ENST00000523916) - p.Lys38Arg (Ensembl:ENST00000308394) - c.113A>G (Ensembl:ENST00000308394) - p.Lys38Arg (Ensembl:ENST00000700100) - c.113A>G (Ensembl:ENST00000700100) - p.Lys38Arg (Ensembl:ENST00000700101) - c.113A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1006886327 | 39 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.694) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184635355C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635355C>A Locations: - p.Met39Ile (Ensembl:ENST00000700101) - c.117G>T (Ensembl:ENST00000700101) - p.Met39Ile (Ensembl:ENST00000700100) - c.117G>T (Ensembl:ENST00000700100) - p.Met39Ile (Ensembl:ENST00000523916) - c.117G>T (Ensembl:ENST00000523916) - p.Met39Ile (Ensembl:ENST00000308394) - c.117G>T (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1170107091 | 42 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184635347G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635347G>A Locations: - p.Pro42Leu (Ensembl:ENST00000523916) - c.125C>T (Ensembl:ENST00000523916) - p.Pro42Leu (Ensembl:ENST00000308394) - c.125C>T (Ensembl:ENST00000308394) - p.Pro42Leu (Ensembl:ENST00000700100) - c.125C>T (Ensembl:ENST00000700100) - p.Pro42Leu (Ensembl:ENST00000700101) - c.125C>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs954215970 | 43 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000004.12:g.184635343C>A, NC_000004.12:g.184635343C>G Codon: GAG/GAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635343C>A, NC_000004.12:g.184635343C>G Locations: - p.Glu43Asp (Ensembl:ENST00000523916) - c.129G>T (Ensembl:ENST00000523916) - p.Glu43Asp (Ensembl:ENST00000308394) - c.129G>T (Ensembl:ENST00000308394) - p.Glu43Asp (Ensembl:ENST00000700101) - c.129G>T (Ensembl:ENST00000700101) - p.Glu43Asp (Ensembl:ENST00000700100) - c.129G>T (Ensembl:ENST00000700100) - c.129G>C (Ensembl:ENST00000523916) - c.129G>C (Ensembl:ENST00000308394) - c.129G>C (Ensembl:ENST00000700101) - c.129G>C (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1411451236 | 43 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000004.12:g.184635345C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635345C>T Locations: - p.Glu43Lys (Ensembl:ENST00000700101) - c.127G>A (Ensembl:ENST00000700101) - p.Glu43Lys (Ensembl:ENST00000700100) - c.127G>A (Ensembl:ENST00000700100) - p.Glu43Lys (Ensembl:ENST00000308394) - c.127G>A (Ensembl:ENST00000308394) - p.Glu43Lys (Ensembl:ENST00000523916) - c.127G>A (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1742226682 | 44 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000004.12:g.184635340C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635340C>T Locations: - p.Met44Ile (Ensembl:ENST00000700101) - c.132G>A (Ensembl:ENST00000700101) - p.Met44Ile (Ensembl:ENST00000308394) - c.132G>A (Ensembl:ENST00000308394) - p.Met44Ile (Ensembl:ENST00000523916) - c.132G>A (Ensembl:ENST00000523916) - p.Met44Ile (Ensembl:ENST00000700100) - c.132G>A (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs548379586 | 44 | M>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000004.12:g.184635341A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635341A>C Locations: - p.Met44Arg (Ensembl:ENST00000308394) - c.131T>G (Ensembl:ENST00000308394) - p.Met44Arg (Ensembl:ENST00000700100) - c.131T>G (Ensembl:ENST00000700100) - p.Met44Arg (Ensembl:ENST00000700101) - c.131T>G (Ensembl:ENST00000700101) - p.Met44Arg (Ensembl:ENST00000523916) - c.131T>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs749226798 | 47 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184635332C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635332C>T Locations: - p.Cys47Tyr (Ensembl:ENST00000523916) - c.140G>A (Ensembl:ENST00000523916) - p.Cys47Tyr (Ensembl:ENST00000700100) - c.140G>A (Ensembl:ENST00000700100) - p.Cys47Tyr (Ensembl:ENST00000700101) - c.140G>A (Ensembl:ENST00000700101) - p.Cys47Tyr (Ensembl:ENST00000308394) - c.140G>A (Ensembl:ENST00000308394) Source type: large scale study | |||||||
rs1742225815 | 48 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.184635328T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635328T>C Locations: - p.Ile48Met (Ensembl:ENST00000700101) - c.144A>G (Ensembl:ENST00000700101) - p.Ile48Met (Ensembl:ENST00000308394) - c.144A>G (Ensembl:ENST00000308394) - p.Ile48Met (Ensembl:ENST00000523916) - c.144A>G (Ensembl:ENST00000523916) - p.Ile48Met (Ensembl:ENST00000700100) - c.144A>G (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs139792606 | 48 | I>V | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000004.12:g.184635330T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635330T>C Locations: - p.Ile48Val (Ensembl:ENST00000700100) - c.142A>G (Ensembl:ENST00000700100) - p.Ile48Val (Ensembl:ENST00000523916) - c.142A>G (Ensembl:ENST00000523916) - p.Ile48Val (Ensembl:ENST00000308394) - c.142A>G (Ensembl:ENST00000308394) - p.Ile48Val (Ensembl:ENST00000700101) - c.142A>G (Ensembl:ENST00000700101) Source type: large scale study | |||||||
rs146079573 | 50 | I>L | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184635324T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635324T>G Locations: - p.Ile50Leu (Ensembl:ENST00000523916) - c.148A>C (Ensembl:ENST00000523916) - p.Ile50Leu (Ensembl:ENST00000700101) - c.148A>C (Ensembl:ENST00000700101) - p.Ile50Leu (Ensembl:ENST00000308394) - c.148A>C (Ensembl:ENST00000308394) - p.Ile50Leu (Ensembl:ENST00000700100) - c.148A>C (Ensembl:ENST00000700100) Source type: large scale study | |||||||
rs752593076 | 51 | N>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184635321T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635321T>G Locations: - p.Asn51His (Ensembl:ENST00000700100) - c.151A>C (Ensembl:ENST00000700100) - p.Asn51His (Ensembl:ENST00000523916) - c.151A>C (Ensembl:ENST00000523916) - p.Asn51His (Ensembl:ENST00000308394) - c.151A>C (Ensembl:ENST00000308394) - p.Asn51His (Ensembl:ENST00000700101) - c.151A>C (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1742224066 COSV57725371 | 53 | K>N | TOPMed cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.184635313C>G, NC_000004.12:g.184635313C>A Codon: AAG/AAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635313C>G, NC_000004.12:g.184635313C>A Locations: - p.Lys53Asn (Ensembl:ENST00000700100) - c.159G>C (Ensembl:ENST00000700100) - p.Lys53Asn (Ensembl:ENST00000523916) - c.159G>C (Ensembl:ENST00000523916) - p.Lys53Asn (Ensembl:ENST00000308394) - c.159G>C (Ensembl:ENST00000308394) - p.Lys53Asn (Ensembl:ENST00000700101) - c.159G>C (Ensembl:ENST00000700101) - p.Lys53Asn (cosmic curated:ENST00000523916) - c.159G>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs780844343 | 58 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000004.12:g.184635299C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184635299C>T Locations: - p.Ser58Asn (Ensembl:ENST00000700101) - c.173G>A (Ensembl:ENST00000700101) - p.Ser58Asn (Ensembl:ENST00000700100) - c.173G>A (Ensembl:ENST00000700100) - p.Ser58Asn (Ensembl:ENST00000523916) - c.173G>A (Ensembl:ENST00000523916) - p.Ser58Asn (Ensembl:ENST00000308394) - c.173G>A (Ensembl:ENST00000308394) Source type: large scale study | |||||||
rs1742084689 | 61 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184632394T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632394T>C Locations: - p.Met61Val (Ensembl:ENST00000700100) - c.181A>G (Ensembl:ENST00000700100) - p.Met61Val (Ensembl:ENST00000523916) - c.181A>G (Ensembl:ENST00000523916) - p.Met61Val (Ensembl:ENST00000700101) - c.181A>G (Ensembl:ENST00000700101) - p.Met61Val (Ensembl:ENST00000308394) - c.181A>G (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
COSV100395064 rs1579186922 | 62 | T>A | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.76) Somatic: Yes Accession: NC_000004.12:g.184632391T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632391T>C Locations: - p.Thr62Ala (Ensembl:ENST00000308394) - c.184A>G (Ensembl:ENST00000308394) - p.Thr62Ala (Ensembl:ENST00000523916) - c.184A>G (Ensembl:ENST00000523916) - p.Thr62Ala (Ensembl:ENST00000700100) - c.184A>G (Ensembl:ENST00000700100) - p.Thr62Ala (Ensembl:ENST00000700101) - c.184A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV57724916 rs762383029 | 63 | S>F | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.72) Somatic: Yes Accession: NC_000004.12:g.184632387G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632387G>A Locations: - p.Ser63Phe (Ensembl:ENST00000700100) - c.188C>T (Ensembl:ENST00000700100) - p.Ser63Phe (Ensembl:ENST00000308394) - c.188C>T (Ensembl:ENST00000308394) - p.Ser63Phe (Ensembl:ENST00000523916) - c.188C>T (Ensembl:ENST00000523916) - p.Ser63Phe (Ensembl:ENST00000700101) - c.188C>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV57725776 rs747930965 | 64 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.000003998 (gnomAD) Accession: NC_000004.12:g.184632384C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632384C>T Locations: - p.R64Q (NCI-TCGA:ENST00000308394) - p.R64Q (NCI-TCGA:ENST00000523916) - p.Arg64Gln (Ensembl:ENST00000523916) - c.191G>A (Ensembl:ENST00000523916) - p.Arg64Gln (Ensembl:ENST00000700101) - c.191G>A (Ensembl:ENST00000700101) - p.Arg64Gln (Ensembl:ENST00000700100) - c.191G>A (Ensembl:ENST00000700100) - p.Arg64Gln (Ensembl:ENST00000308394) - c.191G>A (Ensembl:ENST00000308394) Source type: large scale study | |||||||
rs769869735 | 64 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184632385G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632385G>A Locations: - p.Arg64Trp (Ensembl:ENST00000308394) - c.190C>T (Ensembl:ENST00000308394) - p.Arg64Trp (Ensembl:ENST00000523916) - c.190C>T (Ensembl:ENST00000523916) - p.Arg64Trp (Ensembl:ENST00000700101) - c.190C>T (Ensembl:ENST00000700101) - p.Arg64Trp (Ensembl:ENST00000700100) - c.190C>T (Ensembl:ENST00000700100) Source type: large scale study | |||||||
rs1446038442 | 66 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184632378C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632378C>T Locations: - p.Gly66Asp (Ensembl:ENST00000700101) - c.197G>A (Ensembl:ENST00000700101) - p.Gly66Asp (Ensembl:ENST00000523916) - c.197G>A (Ensembl:ENST00000523916) - p.Gly66Asp (Ensembl:ENST00000308394) - c.197G>A (Ensembl:ENST00000308394) - p.Gly66Asp (Ensembl:ENST00000700100) - c.197G>A (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
COSV57725812 | 66 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184632378C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184632378C>A Locations: - p.Gly66Val (cosmic curated:ENST00000523916) - c.197G>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs958101906 | 68 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184632373C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632373C>T Locations: - p.Asp68Asn (Ensembl:ENST00000523916) - c.202G>A (Ensembl:ENST00000523916) - p.Asp68Asn (Ensembl:ENST00000700100) - c.202G>A (Ensembl:ENST00000700100) - p.Asp68Asn (Ensembl:ENST00000700101) - c.202G>A (Ensembl:ENST00000700101) - p.Asp68Asn (Ensembl:ENST00000308394) - c.202G>A (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1354854000 | 69 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.742) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000004.12:g.184632369A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632369A>G Locations: - p.Val69Ala (Ensembl:ENST00000700101) - c.206T>C (Ensembl:ENST00000700101) - p.Val69Ala (Ensembl:ENST00000308394) - c.206T>C (Ensembl:ENST00000308394) - p.Val69Ala (Ensembl:ENST00000700100) - c.206T>C (Ensembl:ENST00000700100) - p.Val69Ala (Ensembl:ENST00000523916) - c.206T>C (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs754598802 | 69 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.184632370C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632370C>T Locations: - p.Val69Ile (Ensembl:ENST00000700100) - c.205G>A (Ensembl:ENST00000700100) - p.Val69Ile (Ensembl:ENST00000523916) - c.205G>A (Ensembl:ENST00000523916) - p.Val69Ile (Ensembl:ENST00000308394) - c.205G>A (Ensembl:ENST00000308394) - p.Val69Ile (Ensembl:ENST00000700101) - c.205G>A (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1333458950 | 70 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184632367C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632367C>T Locations: - p.Asp70Asn (Ensembl:ENST00000700101) - c.208G>A (Ensembl:ENST00000700101) - p.Asp70Asn (Ensembl:ENST00000700100) - c.208G>A (Ensembl:ENST00000700100) - p.Asp70Asn (Ensembl:ENST00000523916) - c.208G>A (Ensembl:ENST00000523916) - p.Asp70Asn (Ensembl:ENST00000308394) - c.208G>A (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1306969965 | 71 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.573) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184632363G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632363G>A Locations: - p.Ala71Val (Ensembl:ENST00000308394) - c.212C>T (Ensembl:ENST00000308394) - p.Ala71Val (Ensembl:ENST00000523916) - c.212C>T (Ensembl:ENST00000523916) - p.Ala71Val (Ensembl:ENST00000700100) - c.212C>T (Ensembl:ENST00000700100) - p.Ala71Val (Ensembl:ENST00000700101) - c.212C>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1742082049 | 72 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.36) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184632361C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632361C>T Locations: - p.Ala72Thr (Ensembl:ENST00000308394) - c.214G>A (Ensembl:ENST00000308394) - p.Ala72Thr (Ensembl:ENST00000700100) - c.214G>A (Ensembl:ENST00000700100) - p.Ala72Thr (Ensembl:ENST00000700101) - c.214G>A (Ensembl:ENST00000700101) - p.Ala72Thr (Ensembl:ENST00000523916) - c.214G>A (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV100395101 | 74 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000004.12:g.184632355G>T Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632355G>T Locations: - c.220C>A (NCI-TCGA:ENST00000308394) - p.L74I (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs751157550 | 76 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.184632349C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632349C>G Locations: - p.Glu76Gln (Ensembl:ENST00000700100) - c.226G>C (Ensembl:ENST00000700100) - p.Glu76Gln (Ensembl:ENST00000308394) - c.226G>C (Ensembl:ENST00000308394) - p.Glu76Gln (Ensembl:ENST00000700101) - c.226G>C (Ensembl:ENST00000700101) - p.Glu76Gln (Ensembl:ENST00000523916) - c.226G>C (Ensembl:ENST00000523916) Source type: large scale study | |||||||
rs537053227 | 78 | F>L | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184632341G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632341G>T Locations: - p.Phe78Leu (Ensembl:ENST00000308394) - c.234C>A (Ensembl:ENST00000308394) - p.Phe78Leu (Ensembl:ENST00000523916) - c.234C>A (Ensembl:ENST00000523916) - p.Phe78Leu (Ensembl:ENST00000700100) - c.234C>A (Ensembl:ENST00000700100) - p.Phe78Leu (Ensembl:ENST00000700101) - c.234C>A (Ensembl:ENST00000700101) Source type: large scale study | |||||||
COSV107344691 rs757872342 | 79 | R>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: tolerated (0.84) Somatic: Yes Accession: NC_000004.12:g.184632338T>A Codon: AGA/AGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632338T>A Locations: - p.Arg79Ser (Ensembl:ENST00000700100) - c.237A>T (Ensembl:ENST00000700100) - p.Arg79Ser (Ensembl:ENST00000523916) - c.237A>T (Ensembl:ENST00000523916) - p.Arg79Ser (Ensembl:ENST00000308394) - c.237A>T (Ensembl:ENST00000308394) - p.Arg79Ser (Ensembl:ENST00000700101) - c.237A>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs201901370 | 80 | N>D | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000004.12:g.184632337T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632337T>C Locations: - p.Asn80Asp (Ensembl:ENST00000700100) - c.238A>G (Ensembl:ENST00000700100) - p.Asn80Asp (Ensembl:ENST00000700101) - c.238A>G (Ensembl:ENST00000700101) - p.Asn80Asp (Ensembl:ENST00000308394) - c.238A>G (Ensembl:ENST00000308394) - p.Asn80Asp (Ensembl:ENST00000523916) - c.238A>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs199988965 | 80 | N>S | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000004.12:g.184632336T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632336T>C Locations: - p.Asn80Ser (Ensembl:ENST00000523916) - c.239A>G (Ensembl:ENST00000523916) - p.Asn80Ser (Ensembl:ENST00000308394) - c.239A>G (Ensembl:ENST00000308394) - p.Asn80Ser (Ensembl:ENST00000700100) - c.239A>G (Ensembl:ENST00000700100) - p.Asn80Ser (Ensembl:ENST00000700101) - c.239A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs749985298 | 83 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184632327T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632327T>C Locations: - p.Tyr83Cys (Ensembl:ENST00000308394) - c.248A>G (Ensembl:ENST00000308394) - p.Tyr83Cys (Ensembl:ENST00000523916) - c.248A>G (Ensembl:ENST00000523916) - p.Tyr83Cys (Ensembl:ENST00000700100) - c.248A>G (Ensembl:ENST00000700100) - p.Tyr83Cys (Ensembl:ENST00000700101) - c.248A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV57724710 | 83 | Y>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184632328A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184632328A>C Locations: - p.Tyr83Asp (cosmic curated:ENST00000523916) - c.247T>G (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs988311277 | 85 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.184632321A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632321A>G Locations: - p.Val85Ala (Ensembl:ENST00000523916) - c.254T>C (Ensembl:ENST00000523916) - p.Val85Ala (Ensembl:ENST00000700101) - c.254T>C (Ensembl:ENST00000700101) - p.Val85Ala (Ensembl:ENST00000308394) - c.254T>C (Ensembl:ENST00000308394) - p.Val85Ala (Ensembl:ENST00000700100) - c.254T>C (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1363258170 | 85 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.327) - SIFT: tolerated (0.11) - PolyPhen: benign (0.083) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0.000003981 (gnomAD) Accession: NC_000004.12:g.184632322C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632322C>T Locations: - p.V85I (NCI-TCGA:ENST00000308394) - p.V85I (NCI-TCGA:ENST00000523916) - p.Val85Ile (Ensembl:ENST00000700100) - c.253G>A (Ensembl:ENST00000700100) - p.Val85Ile (Ensembl:ENST00000523916) - c.253G>A (Ensembl:ENST00000523916) - p.Val85Ile (Ensembl:ENST00000700101) - c.253G>A (Ensembl:ENST00000700101) - p.Val85Ile (Ensembl:ENST00000308394) - c.253G>A (Ensembl:ENST00000308394) Source type: large scale study | |||||||
rs1181026854 | 86 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.184632319T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632319T>C Locations: - p.Arg86Gly (Ensembl:ENST00000700101) - c.256A>G (Ensembl:ENST00000700101) - p.Arg86Gly (Ensembl:ENST00000523916) - c.256A>G (Ensembl:ENST00000523916) - p.Arg86Gly (Ensembl:ENST00000308394) - c.256A>G (Ensembl:ENST00000308394) - p.Arg86Gly (Ensembl:ENST00000700100) - c.256A>G (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1424266770 | 90 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184632307C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632307C>G Locations: - p.Asp90His (Ensembl:ENST00000523916) - c.268G>C (Ensembl:ENST00000523916) - p.Asp90His (Ensembl:ENST00000700100) - c.268G>C (Ensembl:ENST00000700100) - p.Asp90His (Ensembl:ENST00000700101) - c.268G>C (Ensembl:ENST00000700101) - p.Asp90His (Ensembl:ENST00000308394) - c.268G>C (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
COSV57724572 | 90 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.184632307C>A Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632307C>A Locations: - c.268G>T (NCI-TCGA:ENST00000308394) - p.D90Y (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
COSV100395076 | 91 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.366) - SIFT: tolerated (0.28) Somatic: Yes Accession: NC_000004.12:g.184632304G>A Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632304G>A Locations: - c.271C>T (NCI-TCGA:ENST00000308394) - p.L91F (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs111512673 | 91 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184632303A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632303A>G Locations: - p.Leu91Pro (Ensembl:ENST00000308394) - c.272T>C (Ensembl:ENST00000308394) - p.Leu91Pro (Ensembl:ENST00000523916) - c.272T>C (Ensembl:ENST00000523916) - p.Leu91Pro (Ensembl:ENST00000700101) - c.272T>C (Ensembl:ENST00000700101) - p.Leu91Pro (Ensembl:ENST00000700100) - c.272T>C (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
COSV57725021 rs1258017334 | 93 | R>C | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.65) Somatic: Yes Accession: NC_000004.12:g.184632298G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632298G>A Locations: - p.Arg93Cys (Ensembl:ENST00000308394) - c.277C>T (Ensembl:ENST00000308394) - p.Arg93Cys (Ensembl:ENST00000700101) - c.277C>T (Ensembl:ENST00000700101) - p.Arg93Cys (Ensembl:ENST00000523916) - c.277C>T (Ensembl:ENST00000523916) - p.Arg93Cys (Ensembl:ENST00000700100) - c.277C>T (Ensembl:ENST00000700100) Source type: large scale study | |||||||
COSV57724950 rs1185617085 | 93 | R>H | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.55) Somatic: Yes Accession: NC_000004.12:g.184632297C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632297C>T Locations: - p.Arg93His (Ensembl:ENST00000700100) - c.278G>A (Ensembl:ENST00000700100) - p.Arg93His (Ensembl:ENST00000523916) - c.278G>A (Ensembl:ENST00000523916) - p.Arg93His (Ensembl:ENST00000700101) - c.278G>A (Ensembl:ENST00000700101) - p.Arg93His (Ensembl:ENST00000308394) - c.278G>A (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1185617085 | 93 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.367) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000004.12:g.184632297C>A Codon: CGT/CTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632297C>A Locations: - p.Arg93Leu (Ensembl:ENST00000523916) - c.278G>T (Ensembl:ENST00000523916) - p.Arg93Leu (Ensembl:ENST00000700100) - c.278G>T (Ensembl:ENST00000700100) - p.Arg93Leu (Ensembl:ENST00000308394) - c.278G>T (Ensembl:ENST00000308394) - p.Arg93Leu (Ensembl:ENST00000700101) - c.278G>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV57724950 COSV57724950,COSV57725479 COSV57725479 | 93 | R>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.463) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000004.12:g.184632297C>G Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632297C>G Locations: - c.278G>C (NCI-TCGA:ENST00000308394) - p.R93P (NCI-TCGA:ENST00000308394) Source type: large scale study | |||||||
rs1286350834 | 95 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184632291T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632291T>C Locations: - p.Glu95Gly (Ensembl:ENST00000308394) - c.284A>G (Ensembl:ENST00000308394) - p.Glu95Gly (Ensembl:ENST00000523916) - c.284A>G (Ensembl:ENST00000523916) - p.Glu95Gly (Ensembl:ENST00000700100) - c.284A>G (Ensembl:ENST00000700100) - p.Glu95Gly (Ensembl:ENST00000700101) - c.284A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1742077369 | 97 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000004.12:g.184632286C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632286C>T Locations: - p.Val97Met (Ensembl:ENST00000523916) - c.289G>A (Ensembl:ENST00000523916) - p.Val97Met (Ensembl:ENST00000700101) - c.289G>A (Ensembl:ENST00000700101) - p.Val97Met (Ensembl:ENST00000700100) - c.289G>A (Ensembl:ENST00000700100) - p.Val97Met (Ensembl:ENST00000308394) - c.289G>A (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1742077155 | 98 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000004.12:g.184632282T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632282T>C Locations: - p.Glu98Gly (Ensembl:ENST00000700100) - c.293A>G (Ensembl:ENST00000700100) - p.Glu98Gly (Ensembl:ENST00000523916) - c.293A>G (Ensembl:ENST00000523916) - p.Glu98Gly (Ensembl:ENST00000700101) - c.293A>G (Ensembl:ENST00000700101) - p.Glu98Gly (Ensembl:ENST00000308394) - c.293A>G (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
COSV57725326 | 99 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184632280A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184632280A>T Locations: - p.Leu99Met (cosmic curated:ENST00000523916) - c.295T>A (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs139516222 | 100 | M>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184632277T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632277T>C Locations: - p.Met100Val (Ensembl:ENST00000700101) - c.298A>G (Ensembl:ENST00000700101) - p.Met100Val (Ensembl:ENST00000308394) - c.298A>G (Ensembl:ENST00000308394) - p.Met100Val (Ensembl:ENST00000700100) - c.298A>G (Ensembl:ENST00000700100) - p.Met100Val (Ensembl:ENST00000523916) - c.298A>G (Ensembl:ENST00000523916) Source type: large scale study | |||||||
COSV57725046 rs567223280 | 101 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.12) - PolyPhen: benign (0.138) - SIFT: tolerated (0.24) Somatic: Yes Population frequencies: - MAF: 0.00001997 (gnomAD) Accession: NC_000004.12:g.184632274G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632274G>A Locations: - p.R101C (NCI-TCGA:ENST00000308394) - p.R101C (NCI-TCGA:ENST00000523916) - p.Arg101Cys (Ensembl:ENST00000523916) - c.301C>T (Ensembl:ENST00000523916) - p.Arg101Cys (Ensembl:ENST00000700101) - c.301C>T (Ensembl:ENST00000700101) - p.Arg101Cys (Ensembl:ENST00000700100) - c.301C>T (Ensembl:ENST00000700100) - p.Arg101Cys (Ensembl:ENST00000308394) - c.301C>T (Ensembl:ENST00000308394) Source type: large scale study | |||||||
rs567223280 | 101 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000004.12:g.184632274G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632274G>C Locations: - p.Arg101Gly (Ensembl:ENST00000700100) - c.301C>G (Ensembl:ENST00000700100) - p.Arg101Gly (Ensembl:ENST00000700101) - c.301C>G (Ensembl:ENST00000700101) - p.Arg101Gly (Ensembl:ENST00000308394) - c.301C>G (Ensembl:ENST00000308394) - p.Arg101Gly (Ensembl:ENST00000523916) - c.301C>G (Ensembl:ENST00000523916) Source type: large scale study | |||||||
RCV000897175 rs146285839 | 101 | R>H | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.56) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000004.12:g.184632273C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184632273C>T Locations: - p.Arg101His (Ensembl:ENST00000700100) - c.302G>A (Ensembl:ENST00000700100) - p.Arg101His (Ensembl:ENST00000700101) - c.302G>A (Ensembl:ENST00000700101) - p.Arg101His (Ensembl:ENST00000308394) - c.302G>A (Ensembl:ENST00000308394) - p.Arg101His (Ensembl:ENST00000523916) - c.302G>A (Ensembl:ENST00000523916) Source type: large scale study | |||||||
rs1280426773 | 105 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000004.12:g.184631935T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631935T>C Locations: - p.Lys105Glu (Ensembl:ENST00000700101) - c.313A>G (Ensembl:ENST00000700101) - p.Lys105Glu (Ensembl:ENST00000700100) - c.313A>G (Ensembl:ENST00000700100) - p.Lys105Glu (Ensembl:ENST00000308394) - c.313A>G (Ensembl:ENST00000308394) - p.Lys105Glu (Ensembl:ENST00000523916) - c.313A>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV107344685 | 106 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631932C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631932C>A Locations: - p.Glu106Ter (cosmic curated:ENST00000523916) - c.316G>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs776636041 | 106 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.533) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184631932C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631932C>T Locations: - p.Glu106Lys (Ensembl:ENST00000700100) - c.316G>A (Ensembl:ENST00000700100) - p.Glu106Lys (Ensembl:ENST00000700101) - c.316G>A (Ensembl:ENST00000700101) - p.Glu106Lys (Ensembl:ENST00000308394) - c.316G>A (Ensembl:ENST00000308394) - p.Glu106Lys (Ensembl:ENST00000523916) - c.316G>A (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs776636041 | 106 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.311) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.184631932C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631932C>G Locations: - p.Glu106Gln (Ensembl:ENST00000700101) - c.316G>C (Ensembl:ENST00000700101) - p.Glu106Gln (Ensembl:ENST00000308394) - c.316G>C (Ensembl:ENST00000308394) - p.Glu106Gln (Ensembl:ENST00000523916) - c.316G>C (Ensembl:ENST00000523916) - p.Glu106Gln (Ensembl:ENST00000700100) - c.316G>C (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1289153828 | 107 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631928T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631928T>C Locations: - p.Asp107Gly (Ensembl:ENST00000700100) - c.320A>G (Ensembl:ENST00000700100) - p.Asp107Gly (Ensembl:ENST00000523916) - c.320A>G (Ensembl:ENST00000523916) - p.Asp107Gly (Ensembl:ENST00000308394) - c.320A>G (Ensembl:ENST00000308394) - p.Asp107Gly (Ensembl:ENST00000700101) - c.320A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1326139353 | 107 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631929C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631929C>G Locations: - p.Asp107His (Ensembl:ENST00000308394) - c.319G>C (Ensembl:ENST00000308394) - p.Asp107His (Ensembl:ENST00000700100) - c.319G>C (Ensembl:ENST00000700100) - p.Asp107His (Ensembl:ENST00000523916) - c.319G>C (Ensembl:ENST00000523916) - p.Asp107His (Ensembl:ENST00000700101) - c.319G>C (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV100394885 | 108 | H>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.184631926G>T Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631926G>T Locations: - c.322C>A (NCI-TCGA:ENST00000308394) - p.H108N (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1742057238 | 108 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631924G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631924G>C Locations: - p.His108Gln (Ensembl:ENST00000700100) - c.324C>G (Ensembl:ENST00000700100) - p.His108Gln (Ensembl:ENST00000308394) - c.324C>G (Ensembl:ENST00000308394) - p.His108Gln (Ensembl:ENST00000523916) - c.324C>G (Ensembl:ENST00000523916) - p.His108Gln (Ensembl:ENST00000700101) - c.324C>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV100395062 | 111 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.777) - SIFT: tolerated (0.29) Somatic: Yes Accession: NC_000004.12:g.184631916C>T Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631916C>T Locations: - c.332G>A (NCI-TCGA:ENST00000308394) - p.R111K (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1487994914 | 111 | R>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.184631916C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631916C>A Locations: - p.Arg111Met (Ensembl:ENST00000523916) - c.332G>T (Ensembl:ENST00000523916) - p.Arg111Met (Ensembl:ENST00000700101) - c.332G>T (Ensembl:ENST00000700101) - p.Arg111Met (Ensembl:ENST00000700100) - c.332G>T (Ensembl:ENST00000700100) - p.Arg111Met (Ensembl:ENST00000308394) - c.332G>T (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1742056787 | 111 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.708) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000004.12:g.184631915C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631915C>A Locations: - p.Arg111Ser (Ensembl:ENST00000700101) - c.333G>T (Ensembl:ENST00000700101) - p.Arg111Ser (Ensembl:ENST00000523916) - c.333G>T (Ensembl:ENST00000523916) - p.Arg111Ser (Ensembl:ENST00000308394) - c.333G>T (Ensembl:ENST00000308394) - p.Arg111Ser (Ensembl:ENST00000700100) - c.333G>T (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1742056552 | 112 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631914T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631914T>A Locations: - p.Ser112Cys (Ensembl:ENST00000700101) - c.334A>T (Ensembl:ENST00000700101) - p.Ser112Cys (Ensembl:ENST00000700100) - c.334A>T (Ensembl:ENST00000700100) - p.Ser112Cys (Ensembl:ENST00000523916) - c.334A>T (Ensembl:ENST00000523916) - p.Ser112Cys (Ensembl:ENST00000308394) - c.334A>T (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs758078619 | 112 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: tolerated (0.25) - PolyPhen: benign (0.039) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0.000004139 (gnomAD) Accession: NC_000004.12:g.184631913C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631913C>T Locations: - p.S112N (NCI-TCGA:ENST00000308394) - p.S112N (NCI-TCGA:ENST00000523916) - p.Ser112Asn (Ensembl:ENST00000700101) - c.335G>A (Ensembl:ENST00000700101) - p.Ser112Asn (Ensembl:ENST00000700100) - c.335G>A (Ensembl:ENST00000700100) - p.Ser112Asn (Ensembl:ENST00000523916) - c.335G>A (Ensembl:ENST00000523916) - p.Ser112Asn (Ensembl:ENST00000308394) - c.335G>A (Ensembl:ENST00000308394) Source type: large scale study | |||||||
COSV104413505 | 113 | S>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631911T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631911T>C Locations: - p.Ser113Gly (cosmic curated:ENST00000523916) - c.337A>G (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1742055681 | 114 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184631906A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631906A>C Locations: - p.Phe114Leu (Ensembl:ENST00000700100) - c.342T>G (Ensembl:ENST00000700100) - p.Phe114Leu (Ensembl:ENST00000700101) - c.342T>G (Ensembl:ENST00000700101) - p.Phe114Leu (Ensembl:ENST00000523916) - c.342T>G (Ensembl:ENST00000523916) - p.Phe114Leu (Ensembl:ENST00000308394) - c.342T>G (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
COSV57725288 | 114 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000004.12:g.184631908A>C Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631908A>C Locations: - c.340T>G (NCI-TCGA:ENST00000308394) - p.F114V (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1205494037 | 114 | F>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184631907A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631907A>T Locations: - p.Phe114Tyr (Ensembl:ENST00000523916) - c.341T>A (Ensembl:ENST00000523916) - p.Phe114Tyr (Ensembl:ENST00000700100) - c.341T>A (Ensembl:ENST00000700100) - p.Phe114Tyr (Ensembl:ENST00000308394) - c.341T>A (Ensembl:ENST00000308394) - p.Phe114Tyr (Ensembl:ENST00000700101) - c.341T>A (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV57725667 rs371766825 | 115 | V>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.184631905C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631905C>A Locations: - p.V115F (NCI-TCGA:ENST00000308394) - p.V115F (NCI-TCGA:ENST00000523916) - p.Val115Phe (Ensembl:ENST00000700101) - c.343G>T (Ensembl:ENST00000700101) - p.Val115Phe (Ensembl:ENST00000308394) - c.343G>T (Ensembl:ENST00000308394) - p.Val115Phe (Ensembl:ENST00000700100) - c.343G>T (Ensembl:ENST00000700100) - p.Val115Phe (Ensembl:ENST00000523916) - c.343G>T (Ensembl:ENST00000523916) Source type: large scale study | |||||||
rs371766825 | 115 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000004.12:g.184631905C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631905C>T Locations: - p.Val115Ile (Ensembl:ENST00000700101) - c.343G>A (Ensembl:ENST00000700101) - p.Val115Ile (Ensembl:ENST00000308394) - c.343G>A (Ensembl:ENST00000308394) - p.Val115Ile (Ensembl:ENST00000700100) - c.343G>A (Ensembl:ENST00000700100) - p.Val115Ile (Ensembl:ENST00000523916) - c.343G>A (Ensembl:ENST00000523916) Source type: large scale study | |||||||
rs778409347 | 116 | C>R | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631902A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631902A>G Locations: - p.Cys116Arg (Ensembl:ENST00000523916) - c.346T>C (Ensembl:ENST00000523916) - p.Cys116Arg (Ensembl:ENST00000700101) - c.346T>C (Ensembl:ENST00000700101) - p.Cys116Arg (Ensembl:ENST00000700100) - c.346T>C (Ensembl:ENST00000700100) - p.Cys116Arg (Ensembl:ENST00000308394) - c.346T>C (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs367650105 | 116 | C>W | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631900A>C Codon: TGT/TGG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631900A>C Locations: - p.Cys116Trp (Ensembl:ENST00000523916) - c.348T>G (Ensembl:ENST00000523916) - p.Cys116Trp (Ensembl:ENST00000308394) - c.348T>G (Ensembl:ENST00000308394) - p.Cys116Trp (Ensembl:ENST00000700100) - c.348T>G (Ensembl:ENST00000700100) - p.Cys116Trp (Ensembl:ENST00000700101) - c.348T>G (Ensembl:ENST00000700101) Source type: large scale study | |||||||
COSV57725330 | 116 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.184631901C>T Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631901C>T Locations: - c.347G>A (NCI-TCGA:ENST00000308394) - p.C116Y (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs78678473 | 117 | V>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000004.12:g.184631898A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631898A>G Locations: - p.Val117Ala (Ensembl:ENST00000523916) - c.350T>C (Ensembl:ENST00000523916) - p.Val117Ala (Ensembl:ENST00000308394) - c.350T>C (Ensembl:ENST00000308394) - p.Val117Ala (Ensembl:ENST00000700101) - c.350T>C (Ensembl:ENST00000700101) - p.Val117Ala (Ensembl:ENST00000700100) - c.350T>C (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs78678473 | 117 | V>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184631898A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631898A>C Locations: - p.Val117Gly (Ensembl:ENST00000700100) - c.350T>G (Ensembl:ENST00000700100) - p.Val117Gly (Ensembl:ENST00000308394) - c.350T>G (Ensembl:ENST00000308394) - p.Val117Gly (Ensembl:ENST00000523916) - c.350T>G (Ensembl:ENST00000523916) - p.Val117Gly (Ensembl:ENST00000700101) - c.350T>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs754299277 | 118 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.184631896G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631896G>A Locations: - p.Leu118Phe (Ensembl:ENST00000700101) - c.352C>T (Ensembl:ENST00000700101) - p.Leu118Phe (Ensembl:ENST00000308394) - c.352C>T (Ensembl:ENST00000308394) - p.Leu118Phe (Ensembl:ENST00000700100) - c.352C>T (Ensembl:ENST00000700100) - p.Leu118Phe (Ensembl:ENST00000523916) - c.352C>T (Ensembl:ENST00000523916) Source type: large scale study | |||||||
COSV57724588 rs754299277 | 118 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.7) - PolyPhen: benign (0.095) - SIFT: tolerated (0.3) Somatic: Yes Population frequencies: - MAF: 0.00001627 (gnomAD) Accession: NC_000004.12:g.184631896G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631896G>T Locations: - p.L118I (NCI-TCGA:ENST00000308394) - p.L118I (NCI-TCGA:ENST00000523916) - p.Leu118Ile (Ensembl:ENST00000700101) - c.352C>A (Ensembl:ENST00000700101) - p.Leu118Ile (Ensembl:ENST00000308394) - c.352C>A (Ensembl:ENST00000308394) - p.Leu118Ile (Ensembl:ENST00000523916) - c.352C>A (Ensembl:ENST00000523916) - p.Leu118Ile (Ensembl:ENST00000700100) - c.352C>A (Ensembl:ENST00000700100) Source type: large scale study | |||||||
rs1742053469 | 121 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184631886T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631886T>C Locations: - p.His121Arg (Ensembl:ENST00000523916) - c.362A>G (Ensembl:ENST00000523916) - p.His121Arg (Ensembl:ENST00000308394) - c.362A>G (Ensembl:ENST00000308394) - p.His121Arg (Ensembl:ENST00000700100) - c.362A>G (Ensembl:ENST00000700100) - p.His121Arg (Ensembl:ENST00000700101) - c.362A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs2149966220 | 123 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184631881C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631881C>T Locations: - p.Glu123Lys (Ensembl:ENST00000523916) - c.367G>A (Ensembl:ENST00000523916) - p.Glu123Lys (Ensembl:ENST00000700100) - c.367G>A (Ensembl:ENST00000700100) - p.Glu123Lys (Ensembl:ENST00000308394) - c.367G>A (Ensembl:ENST00000308394) - p.Glu123Lys (Ensembl:ENST00000700101) - c.367G>A (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1742052642 | 124 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000004.12:g.184631876T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631876T>G Locations: - p.Glu124Asp (Ensembl:ENST00000308394) - c.372A>C (Ensembl:ENST00000308394) - p.Glu124Asp (Ensembl:ENST00000523916) - c.372A>C (Ensembl:ENST00000523916) - p.Glu124Asp (Ensembl:ENST00000700100) - c.372A>C (Ensembl:ENST00000700100) - p.Glu124Asp (Ensembl:ENST00000700101) - c.372A>C (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV57724921 | 124 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631878C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631878C>T Locations: - p.Glu124Lys (cosmic curated:ENST00000523916) - c.370G>A (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1169496054 | 124 | E>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631877T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631877T>A Locations: - p.Glu124Val (Ensembl:ENST00000523916) - c.371A>T (Ensembl:ENST00000523916) - p.Glu124Val (Ensembl:ENST00000700100) - c.371A>T (Ensembl:ENST00000700100) - p.Glu124Val (Ensembl:ENST00000700101) - c.371A>T (Ensembl:ENST00000700101) - p.Glu124Val (Ensembl:ENST00000308394) - c.371A>T (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1742052403 | 126 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.184631872T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631872T>C Locations: - p.Ile126Val (Ensembl:ENST00000523916) - c.376A>G (Ensembl:ENST00000523916) - p.Ile126Val (Ensembl:ENST00000700101) - c.376A>G (Ensembl:ENST00000700101) - p.Ile126Val (Ensembl:ENST00000700100) - c.376A>G (Ensembl:ENST00000700100) - p.Ile126Val (Ensembl:ENST00000308394) - c.376A>G (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
COSV57725878 rs753131848 | 127 | I>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.469) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000004.12:g.184631869T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631869T>G Locations: - p.Ile127Leu (Ensembl:ENST00000700101) - c.379A>C (Ensembl:ENST00000700101) - p.Ile127Leu (Ensembl:ENST00000700100) - c.379A>C (Ensembl:ENST00000700100) - p.Ile127Leu (Ensembl:ENST00000308394) - c.379A>C (Ensembl:ENST00000308394) - p.Ile127Leu (Ensembl:ENST00000523916) - c.379A>C (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs753131848 | 127 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.627) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184631869T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631869T>C Locations: - p.Ile127Val (Ensembl:ENST00000700101) - c.379A>G (Ensembl:ENST00000700101) - p.Ile127Val (Ensembl:ENST00000700100) - c.379A>G (Ensembl:ENST00000700100) - p.Ile127Val (Ensembl:ENST00000523916) - c.379A>G (Ensembl:ENST00000523916) - p.Ile127Val (Ensembl:ENST00000308394) - c.379A>G (Ensembl:ENST00000308394) Source type: large scale study | |||||||
rs767803653 | 128 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184631864A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631864A>C Locations: - p.Phe128Leu (Ensembl:ENST00000308394) - c.384T>G (Ensembl:ENST00000308394) - p.Phe128Leu (Ensembl:ENST00000700100) - c.384T>G (Ensembl:ENST00000700100) - p.Phe128Leu (Ensembl:ENST00000700101) - c.384T>G (Ensembl:ENST00000700101) - p.Phe128Leu (Ensembl:ENST00000523916) - c.384T>G (Ensembl:ENST00000523916) Source type: large scale study | |||||||
COSV57725282 | 129 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631863C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631863C>A Locations: - p.Gly129Ter (cosmic curated:ENST00000523916) - c.385G>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV105157440 | 132 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631854C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631854C>A Locations: - p.Gly132Ter (cosmic curated:ENST00000523916) - c.394G>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs200935460 | 133 | P>S | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000004.12:g.184631851G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631851G>A Locations: - p.Pro133Ser (Ensembl:ENST00000700100) - c.397C>T (Ensembl:ENST00000700100) - p.Pro133Ser (Ensembl:ENST00000700101) - c.397C>T (Ensembl:ENST00000700101) - p.Pro133Ser (Ensembl:ENST00000308394) - c.397C>T (Ensembl:ENST00000308394) - p.Pro133Ser (Ensembl:ENST00000523916) - c.397C>T (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV57725378 | 134 | V>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631847A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631847A>G Locations: - p.Val134Ala (cosmic curated:ENST00000523916) - c.401T>C (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV57725253 | 134 | V>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631848C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631848C>A Locations: - p.Val134Phe (cosmic curated:ENST00000523916) - c.400G>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1742050438 | 134 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000004.12:g.184631848C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631848C>T Locations: - p.Val134Ile (Ensembl:ENST00000308394) - c.400G>A (Ensembl:ENST00000308394) - p.Val134Ile (Ensembl:ENST00000523916) - c.400G>A (Ensembl:ENST00000523916) - p.Val134Ile (Ensembl:ENST00000700100) - c.400G>A (Ensembl:ENST00000700100) - p.Val134Ile (Ensembl:ENST00000700101) - c.400G>A (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1742050145 | 135 | D>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184631845C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631845C>G Locations: - p.Asp135His (Ensembl:ENST00000308394) - c.403G>C (Ensembl:ENST00000308394) - p.Asp135His (Ensembl:ENST00000523916) - c.403G>C (Ensembl:ENST00000523916) - p.Asp135His (Ensembl:ENST00000700100) - c.403G>C (Ensembl:ENST00000700100) - p.Asp135His (Ensembl:ENST00000700101) - c.403G>C (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1742050145 | 135 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000004.12:g.184631845C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631845C>T Locations: - p.Asp135Asn (Ensembl:ENST00000308394) - c.403G>A (Ensembl:ENST00000308394) - p.Asp135Asn (Ensembl:ENST00000523916) - c.403G>A (Ensembl:ENST00000523916) - p.Asp135Asn (Ensembl:ENST00000700101) - c.403G>A (Ensembl:ENST00000700101) - p.Asp135Asn (Ensembl:ENST00000700100) - c.403G>A (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs763157710 | 136 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631841A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631841A>G Locations: - p.Leu136Pro (Ensembl:ENST00000700101) - c.407T>C (Ensembl:ENST00000700101) - p.Leu136Pro (Ensembl:ENST00000700100) - c.407T>C (Ensembl:ENST00000700100) - p.Leu136Pro (Ensembl:ENST00000523916) - c.407T>C (Ensembl:ENST00000523916) - p.Leu136Pro (Ensembl:ENST00000308394) - c.407T>C (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs776400130 | 137 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000004.12:g.184631839T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631839T>C Locations: - p.Lys137Glu (Ensembl:ENST00000700100) - c.409A>G (Ensembl:ENST00000700100) - p.Lys137Glu (Ensembl:ENST00000700101) - c.409A>G (Ensembl:ENST00000700101) - p.Lys137Glu (Ensembl:ENST00000308394) - c.409A>G (Ensembl:ENST00000308394) - p.Lys137Glu (Ensembl:ENST00000523916) - c.409A>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV57724679 COSV57724692 | 139 | I>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | cosmic curated NCI-TCGA Cosmic | |||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631839T>, NC_000004.12:g.184631833del Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631839T>, NC_000004.12:g.184631833del Locations: - p.Ile139Ter (cosmic curated:ENST00000523916) - c.415del (cosmic curated:ENST00000523916) - c.415del (NCI-TCGA:ENST00000308394) - p.I139* (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1194497709 | 139 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.184631833T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631833T>A Locations: - p.Ile139Leu (Ensembl:ENST00000700100) - c.415A>T (Ensembl:ENST00000700100) - p.Ile139Leu (Ensembl:ENST00000700101) - c.415A>T (Ensembl:ENST00000700101) - p.Ile139Leu (Ensembl:ENST00000308394) - c.415A>T (Ensembl:ENST00000308394) - p.Ile139Leu (Ensembl:ENST00000523916) - c.415A>T (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
TCGA novel | 139 | I>N | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000004.12:g.184631832_184631833insT Consequence type: frameshift Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631832_184631833insT Locations: - c.415dup (NCI-TCGA:ENST00000308394) - p.I139Nfs*11 (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV57724692 rs1194497709 | 139 | I>V | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.184631833T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631833T>C Locations: - p.Ile139Val (Ensembl:ENST00000700101) - c.415A>G (Ensembl:ENST00000700101) - p.Ile139Val (Ensembl:ENST00000308394) - c.415A>G (Ensembl:ENST00000308394) - p.Ile139Val (Ensembl:ENST00000523916) - c.415A>G (Ensembl:ENST00000523916) - p.Ile139Val (Ensembl:ENST00000700100) - c.415A>G (Ensembl:ENST00000700100) Source type: large scale study | |||||||
rs574650765 | 140 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000004.12:g.184631830T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631830T>C Locations: - p.Thr140Ala (Ensembl:ENST00000700101) - c.418A>G (Ensembl:ENST00000700101) - p.Thr140Ala (Ensembl:ENST00000700100) - c.418A>G (Ensembl:ENST00000700100) - p.Thr140Ala (Ensembl:ENST00000308394) - c.418A>G (Ensembl:ENST00000308394) - p.Thr140Ala (Ensembl:ENST00000523916) - c.418A>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs768687549 | 141 | N>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.184631827T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631827T>C Locations: - p.Asn141Asp (Ensembl:ENST00000700100) - c.421A>G (Ensembl:ENST00000700100) - p.Asn141Asp (Ensembl:ENST00000700101) - c.421A>G (Ensembl:ENST00000700101) - p.Asn141Asp (Ensembl:ENST00000308394) - c.421A>G (Ensembl:ENST00000308394) - p.Asn141Asp (Ensembl:ENST00000523916) - c.421A>G (Ensembl:ENST00000523916) Source type: large scale study | |||||||
rs1025496516 | 141 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000004.12:g.184631825G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631825G>C Locations: - p.Asn141Lys (Ensembl:ENST00000308394) - c.423C>G (Ensembl:ENST00000308394) - p.Asn141Lys (Ensembl:ENST00000700101) - c.423C>G (Ensembl:ENST00000700101) - p.Asn141Lys (Ensembl:ENST00000700100) - c.423C>G (Ensembl:ENST00000700100) - p.Asn141Lys (Ensembl:ENST00000523916) - c.423C>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs768687549 | 141 | N>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184631827T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631827T>A Locations: - p.Asn141Tyr (Ensembl:ENST00000700101) - c.421A>T (Ensembl:ENST00000700101) - p.Asn141Tyr (Ensembl:ENST00000523916) - c.421A>T (Ensembl:ENST00000523916) - p.Asn141Tyr (Ensembl:ENST00000700100) - c.421A>T (Ensembl:ENST00000700100) - p.Asn141Tyr (Ensembl:ENST00000308394) - c.421A>T (Ensembl:ENST00000308394) Source type: large scale study | |||||||
TCGA novel | 143 | F>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631820A>G Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631820A>G Locations: - c.428T>C (NCI-TCGA:ENST00000308394) - p.F143S (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1368903886 | 145 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631814C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631814C>T Locations: - p.Gly145Glu (Ensembl:ENST00000308394) - c.434G>A (Ensembl:ENST00000308394) - p.Gly145Glu (Ensembl:ENST00000523916) - c.434G>A (Ensembl:ENST00000523916) - p.Gly145Glu (Ensembl:ENST00000700100) - c.434G>A (Ensembl:ENST00000700100) - p.Gly145Glu (Ensembl:ENST00000700101) - c.434G>A (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV57724877 rs1457645538 | 147 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.24) - PolyPhen: benign (0.206) - SIFT: tolerated (0.32) Somatic: Yes Accession: NC_000004.12:g.184631809G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631809G>A Locations: - p.R147C (NCI-TCGA:ENST00000308394) - p.R147C (NCI-TCGA:ENST00000523916) - p.Arg147Cys (Ensembl:ENST00000308394) - c.439C>T (Ensembl:ENST00000308394) - p.Arg147Cys (Ensembl:ENST00000523916) - c.439C>T (Ensembl:ENST00000523916) - p.Arg147Cys (Ensembl:ENST00000700101) - c.439C>T (Ensembl:ENST00000700101) - p.Arg147Cys (Ensembl:ENST00000700100) - c.439C>T (Ensembl:ENST00000700100) Source type: large scale study | |||||||
COSV100394963 rs577739464 | 147 | R>H | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.27) Somatic: Yes Accession: NC_000004.12:g.184631808C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631808C>T Locations: - p.Arg147His (Ensembl:ENST00000523916) - c.440G>A (Ensembl:ENST00000523916) - p.Arg147His (Ensembl:ENST00000308394) - c.440G>A (Ensembl:ENST00000308394) - p.Arg147His (Ensembl:ENST00000700101) - c.440G>A (Ensembl:ENST00000700101) - p.Arg147His (Ensembl:ENST00000700100) - c.440G>A (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1380983370 | 148 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631806A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631806A>G Locations: - p.Cys148Arg (Ensembl:ENST00000700101) - c.442T>C (Ensembl:ENST00000700101) - p.Cys148Arg (Ensembl:ENST00000523916) - c.442T>C (Ensembl:ENST00000523916) - p.Cys148Arg (Ensembl:ENST00000700100) - c.442T>C (Ensembl:ENST00000700100) - p.Cys148Arg (Ensembl:ENST00000308394) - c.442T>C (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1742046442 | 150 | S>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631799C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631799C>A Locations: - p.Ser150Ile (Ensembl:ENST00000700101) - c.449G>T (Ensembl:ENST00000700101) - p.Ser150Ile (Ensembl:ENST00000700100) - c.449G>T (Ensembl:ENST00000700100) - p.Ser150Ile (Ensembl:ENST00000523916) - c.449G>T (Ensembl:ENST00000523916) - p.Ser150Ile (Ensembl:ENST00000308394) - c.449G>T (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs771653561 | 151 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184631797G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631797G>C Locations: - p.Leu151Val (Ensembl:ENST00000700101) - c.451C>G (Ensembl:ENST00000700101) - p.Leu151Val (Ensembl:ENST00000308394) - c.451C>G (Ensembl:ENST00000308394) - p.Leu151Val (Ensembl:ENST00000523916) - c.451C>G (Ensembl:ENST00000523916) - p.Leu151Val (Ensembl:ENST00000700100) - c.451C>G (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs745505513 | 152 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.372) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.184631793G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631793G>C Locations: - p.Thr152Ser (Ensembl:ENST00000308394) - c.455C>G (Ensembl:ENST00000308394) - p.Thr152Ser (Ensembl:ENST00000523916) - c.455C>G (Ensembl:ENST00000523916) - p.Thr152Ser (Ensembl:ENST00000700101) - c.455C>G (Ensembl:ENST00000700101) - p.Thr152Ser (Ensembl:ENST00000700100) - c.455C>G (Ensembl:ENST00000700100) Source type: large scale study | |||||||
COSV100395107 rs1742045527 | 153 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.962) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000004.12:g.184631790C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631790C>T Locations: - p.G153E (NCI-TCGA:ENST00000308394) - p.G153E (NCI-TCGA:ENST00000523916) - p.Gly153Glu (Ensembl:ENST00000308394) - c.458G>A (Ensembl:ENST00000308394) - p.Gly153Glu (Ensembl:ENST00000700101) - c.458G>A (Ensembl:ENST00000700101) - p.Gly153Glu (Ensembl:ENST00000700100) - c.458G>A (Ensembl:ENST00000700100) - p.Gly153Glu (Ensembl:ENST00000523916) - c.458G>A (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV104611315 rs778601566 | 156 | K>R | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.184631781T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631781T>C Locations: - p.Lys156Arg (Ensembl:ENST00000700100) - c.467A>G (Ensembl:ENST00000700100) - p.Lys156Arg (Ensembl:ENST00000700101) - c.467A>G (Ensembl:ENST00000700101) - p.Lys156Arg (Ensembl:ENST00000308394) - c.467A>G (Ensembl:ENST00000308394) - p.Lys156Arg (Ensembl:ENST00000523916) - c.467A>G (Ensembl:ENST00000523916) Source type: large scale study | |||||||
rs1026750296 | 158 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631776A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631776A>G Locations: - p.Phe158Leu (Ensembl:ENST00000308394) - c.472T>C (Ensembl:ENST00000308394) - p.Phe158Leu (Ensembl:ENST00000523916) - c.472T>C (Ensembl:ENST00000523916) - p.Phe158Leu (Ensembl:ENST00000700100) - c.472T>C (Ensembl:ENST00000700100) - p.Phe158Leu (Ensembl:ENST00000700101) - c.472T>C (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1742044819 | 160 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.34) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184631770T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631770T>C Locations: - p.Ile160Val (Ensembl:ENST00000700100) - c.478A>G (Ensembl:ENST00000700100) - p.Ile160Val (Ensembl:ENST00000700101) - c.478A>G (Ensembl:ENST00000700101) - p.Ile160Val (Ensembl:ENST00000523916) - c.478A>G (Ensembl:ENST00000523916) - p.Ile160Val (Ensembl:ENST00000308394) - c.478A>G (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
COSV57725963 | 161 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631767G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631767G>A Locations: - p.Gln161Ter (cosmic curated:ENST00000523916) - c.481C>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV57725696 | 161 | Q>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.184631766T>A Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631766T>A Locations: - c.482A>T (NCI-TCGA:ENST00000308394) - p.Q161L (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs748702509 | 162 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184631156G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631156G>C Locations: - p.Ala162Gly (Ensembl:ENST00000523916) - c.485C>G (Ensembl:ENST00000523916) - p.Ala162Gly (Ensembl:ENST00000700100) - c.485C>G (Ensembl:ENST00000700100) - p.Ala162Gly (Ensembl:ENST00000700101) - c.485C>G (Ensembl:ENST00000700101) - p.Ala162Gly (Ensembl:ENST00000308394) - c.485C>G (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs777345631 | 163 | C>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631152G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631152G>C Locations: - p.Cys163Trp (Ensembl:ENST00000700101) - c.489C>G (Ensembl:ENST00000700101) - p.Cys163Trp (Ensembl:ENST00000523916) - c.489C>G (Ensembl:ENST00000523916) - p.Cys163Trp (Ensembl:ENST00000700100) - c.489C>G (Ensembl:ENST00000700100) - p.Cys163Trp (Ensembl:ENST00000308394) - c.489C>G (Ensembl:ENST00000308394) Source type: large scale study | |||||||
rs770145611 | 164 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184631151G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631151G>A Locations: - p.Arg164Cys (Ensembl:ENST00000700100) - c.490C>T (Ensembl:ENST00000700100) - p.Arg164Cys (Ensembl:ENST00000700101) - c.490C>T (Ensembl:ENST00000700101) - p.Arg164Cys (Ensembl:ENST00000308394) - c.490C>T (Ensembl:ENST00000308394) - p.Arg164Cys (Ensembl:ENST00000523916) - c.490C>T (Ensembl:ENST00000523916) Source type: large scale study | |||||||
COSV57724847 rs1217567390 | 164 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.000004068 (gnomAD) Accession: NC_000004.12:g.184631150C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631150C>T Locations: - p.R164H (NCI-TCGA:ENST00000308394) - p.R164H (NCI-TCGA:ENST00000523916) - p.Arg164His (Ensembl:ENST00000523916) - c.491G>A (Ensembl:ENST00000523916) - p.Arg164His (Ensembl:ENST00000700101) - c.491G>A (Ensembl:ENST00000700101) - p.Arg164His (Ensembl:ENST00000700100) - c.491G>A (Ensembl:ENST00000700100) - p.Arg164His (Ensembl:ENST00000308394) - c.491G>A (Ensembl:ENST00000308394) Source type: large scale study | |||||||
COSV57724548 | 164 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631151G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631151G>T Locations: - p.Arg164Ser (cosmic curated:ENST00000523916) - c.490C>A (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV100394978 | 165 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.184631147C>T Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631147C>T Locations: - c.494G>A (NCI-TCGA:ENST00000308394) - p.G165D (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs748655755 | 169 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631135T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631135T>C Locations: - p.Asp169Gly (Ensembl:ENST00000700100) - c.506A>G (Ensembl:ENST00000700100) - p.Asp169Gly (Ensembl:ENST00000523916) - c.506A>G (Ensembl:ENST00000523916) - p.Asp169Gly (Ensembl:ENST00000308394) - c.506A>G (Ensembl:ENST00000308394) - p.Asp169Gly (Ensembl:ENST00000700101) - c.506A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV100394980 | 170 | C>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.51) Somatic: Yes Accession: NC_000004.12:g.184631133A>G Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631133A>G Locations: - c.508T>C (NCI-TCGA:ENST00000308394) - p.C170R (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
COSV57725362 | 171 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631130C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631130C>A Locations: - p.Gly171Cys (cosmic curated:ENST00000523916) - c.511G>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs781782069 | 171 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631129C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631129C>T Locations: - p.Gly171Asp (Ensembl:ENST00000700100) - c.512G>A (Ensembl:ENST00000700100) - p.Gly171Asp (Ensembl:ENST00000523916) - c.512G>A (Ensembl:ENST00000523916) - p.Gly171Asp (Ensembl:ENST00000308394) - c.512G>A (Ensembl:ENST00000308394) - p.Gly171Asp (Ensembl:ENST00000700101) - c.512G>A (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1284696202 | 172 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184631126A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631126A>G Locations: - p.Ile172Thr (Ensembl:ENST00000700101) - c.515T>C (Ensembl:ENST00000700101) - p.Ile172Thr (Ensembl:ENST00000523916) - c.515T>C (Ensembl:ENST00000523916) - p.Ile172Thr (Ensembl:ENST00000308394) - c.515T>C (Ensembl:ENST00000308394) - p.Ile172Thr (Ensembl:ENST00000700100) - c.515T>C (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs578008889 | 172 | I>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000004.12:g.184631127T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631127T>C Locations: - p.Ile172Val (Ensembl:ENST00000523916) - c.514A>G (Ensembl:ENST00000523916) - p.Ile172Val (Ensembl:ENST00000700101) - c.514A>G (Ensembl:ENST00000700101) - p.Ile172Val (Ensembl:ENST00000308394) - c.514A>G (Ensembl:ENST00000308394) - p.Ile172Val (Ensembl:ENST00000700100) - c.514A>G (Ensembl:ENST00000700100) Source type: large scale study | |||||||
COSV57724975 | 173 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: tolerated (0.37) Somatic: Yes Accession: NC_000004.12:g.184631124C>G Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631124C>G Locations: - c.517G>C (NCI-TCGA:ENST00000308394) - p.E173Q (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
COSV108156631 | 174 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631120G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631120G>A Locations: - p.Thr174Ile (cosmic curated:ENST00000523916) - c.521C>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1416442983 | 174 | T>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.572) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631120G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631120G>C Locations: - p.Thr174Arg (Ensembl:ENST00000308394) - c.521C>G (Ensembl:ENST00000308394) - p.Thr174Arg (Ensembl:ENST00000700101) - c.521C>G (Ensembl:ENST00000700101) - p.Thr174Arg (Ensembl:ENST00000700100) - c.521C>G (Ensembl:ENST00000700100) - p.Thr174Arg (Ensembl:ENST00000523916) - c.521C>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1353298938 | 176 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.407) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184631115T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631115T>C Locations: - p.Ser176Gly (Ensembl:ENST00000700101) - c.526A>G (Ensembl:ENST00000700101) - p.Ser176Gly (Ensembl:ENST00000308394) - c.526A>G (Ensembl:ENST00000308394) - p.Ser176Gly (Ensembl:ENST00000523916) - c.526A>G (Ensembl:ENST00000523916) - p.Ser176Gly (Ensembl:ENST00000700100) - c.526A>G (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
RCV001092653 rs1741990588 | 176 | S>missing | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | |||
Consequence: inframe deletion Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000004.12:g.184631113_184631115del Consequence type: inframe deletion Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631113_184631115del Locations: - p.Ser176del (ClinVar:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs2149964406 | 176 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631114C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631114C>A Locations: - p.Ser176Ile (Ensembl:ENST00000700100) - c.527G>T (Ensembl:ENST00000700100) - p.Ser176Ile (Ensembl:ENST00000308394) - c.527G>T (Ensembl:ENST00000308394) - p.Ser176Ile (Ensembl:ENST00000523916) - c.527G>T (Ensembl:ENST00000523916) - p.Ser176Ile (Ensembl:ENST00000700101) - c.527G>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1400180838 | 179 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000004.12:g.184631105T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631105T>A Locations: - p.Asp179Val (Ensembl:ENST00000700100) - c.536A>T (Ensembl:ENST00000700100) - p.Asp179Val (Ensembl:ENST00000523916) - c.536A>T (Ensembl:ENST00000523916) - p.Asp179Val (Ensembl:ENST00000308394) - c.536A>T (Ensembl:ENST00000308394) - p.Asp179Val (Ensembl:ENST00000700101) - c.536A>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV57725313 | 180 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.286) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.184631103C>G Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631103C>G Locations: - c.538G>C (NCI-TCGA:ENST00000308394) - p.D180H (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
COSV57724960 | 181 | D>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631099T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631099T>G Locations: - p.Asp181Ala (cosmic curated:ENST00000523916) - c.542A>C (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1320816017 | 182 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000004.12:g.184631095C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631095C>T Locations: - p.Met182Ile (Ensembl:ENST00000700101) - c.546G>A (Ensembl:ENST00000700101) - p.Met182Ile (Ensembl:ENST00000523916) - c.546G>A (Ensembl:ENST00000523916) - p.Met182Ile (Ensembl:ENST00000308394) - c.546G>A (Ensembl:ENST00000308394) - p.Met182Ile (Ensembl:ENST00000700100) - c.546G>A (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1156238121 | 182 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000004.12:g.184631097T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631097T>A Locations: - p.Met182Leu (Ensembl:ENST00000523916) - c.544A>T (Ensembl:ENST00000523916) - p.Met182Leu (Ensembl:ENST00000308394) - c.544A>T (Ensembl:ENST00000308394) - p.Met182Leu (Ensembl:ENST00000700100) - c.544A>T (Ensembl:ENST00000700100) - p.Met182Leu (Ensembl:ENST00000700101) - c.544A>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1741989298 | 182 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000004.12:g.184631096A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631096A>G Locations: - p.Met182Thr (Ensembl:ENST00000700100) - c.545T>C (Ensembl:ENST00000700100) - p.Met182Thr (Ensembl:ENST00000700101) - c.545T>C (Ensembl:ENST00000700101) - p.Met182Thr (Ensembl:ENST00000308394) - c.545T>C (Ensembl:ENST00000308394) - p.Met182Thr (Ensembl:ENST00000523916) - c.545T>C (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1156238121 | 182 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000004.12:g.184631097T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631097T>C Locations: - p.Met182Val (Ensembl:ENST00000523916) - c.544A>G (Ensembl:ENST00000523916) - p.Met182Val (Ensembl:ENST00000700100) - c.544A>G (Ensembl:ENST00000700100) - p.Met182Val (Ensembl:ENST00000700101) - c.544A>G (Ensembl:ENST00000700101) - p.Met182Val (Ensembl:ENST00000308394) - c.544A>G (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs80000647 | 183 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000004.12:g.184631093G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631093G>A Locations: - p.Ala183Val (Ensembl:ENST00000700101) - c.548C>T (Ensembl:ENST00000700101) - p.Ala183Val (Ensembl:ENST00000523916) - c.548C>T (Ensembl:ENST00000523916) - p.Ala183Val (Ensembl:ENST00000308394) - c.548C>T (Ensembl:ENST00000308394) - p.Ala183Val (Ensembl:ENST00000700100) - c.548C>T (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
COSV107344672 rs750412530 | 184 | C>Y | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000004.12:g.184631090C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631090C>T Locations: - p.Cys184Tyr (Ensembl:ENST00000308394) - c.551G>A (Ensembl:ENST00000308394) - p.Cys184Tyr (Ensembl:ENST00000700100) - c.551G>A (Ensembl:ENST00000700100) - p.Cys184Tyr (Ensembl:ENST00000700101) - c.551G>A (Ensembl:ENST00000700101) - p.Cys184Tyr (Ensembl:ENST00000523916) - c.551G>A (Ensembl:ENST00000523916) Source type: large scale study | |||||||
rs765345221 | 185 | H>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184631088G>T Codon: CAT/AAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631088G>T Locations: - p.His185Asn (Ensembl:ENST00000700100) - c.553C>A (Ensembl:ENST00000700100) - p.His185Asn (Ensembl:ENST00000308394) - c.553C>A (Ensembl:ENST00000308394) - p.His185Asn (Ensembl:ENST00000523916) - c.553C>A (Ensembl:ENST00000523916) - p.His185Asn (Ensembl:ENST00000700101) - c.553C>A (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1208064959 | 185 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.184631087T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631087T>C Locations: - p.His185Arg (Ensembl:ENST00000523916) - c.554A>G (Ensembl:ENST00000523916) - p.His185Arg (Ensembl:ENST00000308394) - c.554A>G (Ensembl:ENST00000308394) - p.His185Arg (Ensembl:ENST00000700100) - c.554A>G (Ensembl:ENST00000700100) - p.His185Arg (Ensembl:ENST00000700101) - c.554A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV57725910 | 186 | K>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631085T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631085T>A Locations: - p.Lys186Ter (cosmic curated:ENST00000523916) - c.556A>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1741987368 | 186 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184631083T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631083T>G Locations: - p.Lys186Asn (Ensembl:ENST00000700100) - c.558A>C (Ensembl:ENST00000700100) - p.Lys186Asn (Ensembl:ENST00000523916) - c.558A>C (Ensembl:ENST00000523916) - p.Lys186Asn (Ensembl:ENST00000308394) - c.558A>C (Ensembl:ENST00000308394) - p.Lys186Asn (Ensembl:ENST00000700101) - c.558A>C (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV100394998 rs1246331686 | 188 | P>Q | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.184631078G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631078G>T Locations: - p.Pro188Gln (Ensembl:ENST00000700101) - c.563C>A (Ensembl:ENST00000700101) - p.Pro188Gln (Ensembl:ENST00000700100) - c.563C>A (Ensembl:ENST00000700100) - p.Pro188Gln (Ensembl:ENST00000523916) - c.563C>A (Ensembl:ENST00000523916) - p.Pro188Gln (Ensembl:ENST00000308394) - c.563C>A (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1247443028 | 188 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631079G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631079G>T Locations: - p.Pro188Thr (Ensembl:ENST00000523916) - c.562C>A (Ensembl:ENST00000523916) - p.Pro188Thr (Ensembl:ENST00000700100) - c.562C>A (Ensembl:ENST00000700100) - p.Pro188Thr (Ensembl:ENST00000700101) - c.562C>A (Ensembl:ENST00000700101) - p.Pro188Thr (Ensembl:ENST00000308394) - c.562C>A (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1741986599 | 189 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631075A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631075A>G Locations: - p.Val189Ala (Ensembl:ENST00000308394) - c.566T>C (Ensembl:ENST00000308394) - p.Val189Ala (Ensembl:ENST00000523916) - c.566T>C (Ensembl:ENST00000523916) - p.Val189Ala (Ensembl:ENST00000700101) - c.566T>C (Ensembl:ENST00000700101) - p.Val189Ala (Ensembl:ENST00000700100) - c.566T>C (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1417526600 | 189 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631076C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631076C>T Locations: - p.Val189Met (Ensembl:ENST00000700101) - c.565G>A (Ensembl:ENST00000700101) - p.Val189Met (Ensembl:ENST00000523916) - c.565G>A (Ensembl:ENST00000523916) - p.Val189Met (Ensembl:ENST00000700100) - c.565G>A (Ensembl:ENST00000700100) - p.Val189Met (Ensembl:ENST00000308394) - c.565G>A (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
VAR_001401 rs1049210 | 190 | E>D | UniProt TOPMed dbSNP | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631071C>G, NC_000004.12:g.184631071C>A Codon: GAG/GAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631071C>G, NC_000004.12:g.184631071C>A Locations: - p.Glu190Asp (UniProt:P42574) - p.Glu190Asp (Ensembl:ENST00000308394) - c.570G>T (Ensembl:ENST00000308394) - p.Glu190Asp (Ensembl:ENST00000523916) - c.570G>T (Ensembl:ENST00000523916) - p.Glu190Asp (Ensembl:ENST00000700100) - c.570G>T (Ensembl:ENST00000700100) - p.Glu190Asp (Ensembl:ENST00000700101) - c.570G>T (Ensembl:ENST00000700101) Source type: mixed | |||||||
rs761945673 | 190 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184631072T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631072T>C Locations: - p.Glu190Gly (Ensembl:ENST00000700101) - c.569A>G (Ensembl:ENST00000700101) - p.Glu190Gly (Ensembl:ENST00000523916) - c.569A>G (Ensembl:ENST00000523916) - p.Glu190Gly (Ensembl:ENST00000308394) - c.569A>G (Ensembl:ENST00000308394) - p.Glu190Gly (Ensembl:ENST00000700100) - c.569A>G (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs752598551 | 191 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.184631069G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631069G>A Locations: - p.Ala191Val (Ensembl:ENST00000700101) - c.572C>T (Ensembl:ENST00000700101) - p.Ala191Val (Ensembl:ENST00000308394) - c.572C>T (Ensembl:ENST00000308394) - p.Ala191Val (Ensembl:ENST00000700100) - c.572C>T (Ensembl:ENST00000700100) - p.Ala191Val (Ensembl:ENST00000523916) - c.572C>T (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV100395047 | 192 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.184631065G>T Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631065G>T Locations: - c.576C>A (NCI-TCGA:ENST00000308394) - p.D192E (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
COSV57724582 rs543443896 | 192 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0.03) - PolyPhen: possibly damaging (0.789) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000004.12:g.184631067C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631067C>T Locations: - p.D192N (NCI-TCGA:ENST00000308394) - p.D192N (NCI-TCGA:ENST00000523916) - p.Asp192Asn (Ensembl:ENST00000700100) - c.574G>A (Ensembl:ENST00000700100) - p.Asp192Asn (Ensembl:ENST00000308394) - c.574G>A (Ensembl:ENST00000308394) - p.Asp192Asn (Ensembl:ENST00000523916) - c.574G>A (Ensembl:ENST00000523916) - p.Asp192Asn (Ensembl:ENST00000700101) - c.574G>A (Ensembl:ENST00000700101) Source type: large scale study | |||||||
rs1741984853 | 193 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184631062G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631062G>T Locations: - p.Phe193Leu (Ensembl:ENST00000523916) - c.579C>A (Ensembl:ENST00000523916) - p.Phe193Leu (Ensembl:ENST00000700100) - c.579C>A (Ensembl:ENST00000700100) - p.Phe193Leu (Ensembl:ENST00000700101) - c.579C>A (Ensembl:ENST00000700101) - p.Phe193Leu (Ensembl:ENST00000308394) - c.579C>A (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1579184919 | 194 | L>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.184631060A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631060A>T Locations: - p.Leu194Ter (Ensembl:ENST00000700101) - c.581T>A (Ensembl:ENST00000700101) - p.Leu194Ter (Ensembl:ENST00000700100) - c.581T>A (Ensembl:ENST00000700100) - p.Leu194Ter (Ensembl:ENST00000308394) - c.581T>A (Ensembl:ENST00000308394) - p.Leu194Ter (Ensembl:ENST00000523916) - c.581T>A (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs759274147 | 194 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631059C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631059C>G Locations: - p.Leu194Phe (Ensembl:ENST00000700101) - c.582G>C (Ensembl:ENST00000700101) - p.Leu194Phe (Ensembl:ENST00000700100) - c.582G>C (Ensembl:ENST00000700100) - p.Leu194Phe (Ensembl:ENST00000308394) - c.582G>C (Ensembl:ENST00000308394) - p.Leu194Phe (Ensembl:ENST00000523916) - c.582G>C (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV104611324 | 196 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631055C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631055C>A Locations: - p.Ala196Ser (cosmic curated:ENST00000523916) - c.586G>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV107344693 | 198 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184631048G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184631048G>A Locations: - p.Ser198Phe (cosmic curated:ENST00000523916) - c.593C>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs143138537 | 199 | T>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184631045G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184631045G>A Locations: - p.Thr199Ile (Ensembl:ENST00000700100) - c.596C>T (Ensembl:ENST00000700100) - p.Thr199Ile (Ensembl:ENST00000523916) - c.596C>T (Ensembl:ENST00000523916) - p.Thr199Ile (Ensembl:ENST00000308394) - c.596C>T (Ensembl:ENST00000308394) - p.Thr199Ile (Ensembl:ENST00000700101) - c.596C>T (Ensembl:ENST00000700101) Source type: large scale study | |||||||
rs1467034287 | 202 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184629501C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629501C>T Locations: - p.Gly202Asp (Ensembl:ENST00000700101) - c.605G>A (Ensembl:ENST00000700101) - p.Gly202Asp (Ensembl:ENST00000523916) - c.605G>A (Ensembl:ENST00000523916) - p.Gly202Asp (Ensembl:ENST00000308394) - c.605G>A (Ensembl:ENST00000308394) - p.Gly202Asp (Ensembl:ENST00000700100) - c.605G>A (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
COSV104611326 | 203 | Y>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184629499A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184629499A>C Locations: - p.Tyr203Asp (cosmic curated:ENST00000523916) - c.607T>G (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1741899334 | 204 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629496A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629496A>G Locations: - p.Tyr204His (Ensembl:ENST00000700101) - c.610T>C (Ensembl:ENST00000700101) - p.Tyr204His (Ensembl:ENST00000523916) - c.610T>C (Ensembl:ENST00000523916) - p.Tyr204His (Ensembl:ENST00000308394) - c.610T>C (Ensembl:ENST00000308394) - p.Tyr204His (Ensembl:ENST00000700100) - c.610T>C (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1741899078 | 205 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629492G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629492G>C Locations: - p.Ser205Cys (Ensembl:ENST00000523916) - c.614C>G (Ensembl:ENST00000523916) - p.Ser205Cys (Ensembl:ENST00000308394) - c.614C>G (Ensembl:ENST00000308394) - p.Ser205Cys (Ensembl:ENST00000700100) - c.614C>G (Ensembl:ENST00000700100) - p.Ser205Cys (Ensembl:ENST00000700101) - c.614C>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1741899078 | 205 | S>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629492G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629492G>T Locations: - p.Ser205Tyr (Ensembl:ENST00000308394) - c.614C>A (Ensembl:ENST00000308394) - p.Ser205Tyr (Ensembl:ENST00000523916) - c.614C>A (Ensembl:ENST00000523916) - p.Ser205Tyr (Ensembl:ENST00000700100) - c.614C>A (Ensembl:ENST00000700100) - p.Ser205Tyr (Ensembl:ENST00000700101) - c.614C>A (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV57725725 rs757302190 | 207 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001205 (gnomAD) Accession: NC_000004.12:g.184629487G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629487G>A Locations: - p.R207* (NCI-TCGA:ENST00000308394) - p.R207* (NCI-TCGA:ENST00000523916) - p.Arg207Ter (Ensembl:ENST00000700100) - c.619C>T (Ensembl:ENST00000700100) - p.Arg207Ter (Ensembl:ENST00000700101) - c.619C>T (Ensembl:ENST00000700101) - p.Arg207Ter (Ensembl:ENST00000308394) - c.619C>T (Ensembl:ENST00000308394) - p.Arg207Ter (Ensembl:ENST00000523916) - c.619C>T (Ensembl:ENST00000523916) Source type: large scale study | |||||||
rs149499063 | 207 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184629486C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629486C>T Locations: - p.Arg207Gln (Ensembl:ENST00000308394) - c.620G>A (Ensembl:ENST00000308394) - p.Arg207Gln (Ensembl:ENST00000523916) - c.620G>A (Ensembl:ENST00000523916) - p.Arg207Gln (Ensembl:ENST00000700100) - c.620G>A (Ensembl:ENST00000700100) - p.Arg207Gln (Ensembl:ENST00000700101) - c.620G>A (Ensembl:ENST00000700101) Source type: large scale study | |||||||
rs1741898436 | 208 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629482A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629482A>C Locations: - p.Asn208Lys (Ensembl:ENST00000700101) - c.624T>G (Ensembl:ENST00000700101) - p.Asn208Lys (Ensembl:ENST00000700100) - c.624T>G (Ensembl:ENST00000700100) - p.Asn208Lys (Ensembl:ENST00000308394) - c.624T>G (Ensembl:ENST00000308394) - p.Asn208Lys (Ensembl:ENST00000523916) - c.624T>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1309003064 | 211 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000004.12:g.184629475C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629475C>T Locations: - p.Asp211Asn (Ensembl:ENST00000523916) - c.631G>A (Ensembl:ENST00000523916) - p.Asp211Asn (Ensembl:ENST00000308394) - c.631G>A (Ensembl:ENST00000308394) - p.Asp211Asn (Ensembl:ENST00000700100) - c.631G>A (Ensembl:ENST00000700100) - p.Asp211Asn (Ensembl:ENST00000700101) - c.631G>A (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs867056418 | 213 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629468G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629468G>A Locations: - p.Ser213Phe (Ensembl:ENST00000700100) - c.638C>T (Ensembl:ENST00000700100) - p.Ser213Phe (Ensembl:ENST00000523916) - c.638C>T (Ensembl:ENST00000523916) - p.Ser213Phe (Ensembl:ENST00000308394) - c.638C>T (Ensembl:ENST00000308394) - p.Ser213Phe (Ensembl:ENST00000700101) - c.638C>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs754910045 | 217 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629455C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629455C>A Locations: - p.Gln217His (Ensembl:ENST00000700101) - c.651G>T (Ensembl:ENST00000700101) - p.Gln217His (Ensembl:ENST00000700100) - c.651G>T (Ensembl:ENST00000700100) - p.Gln217His (Ensembl:ENST00000523916) - c.651G>T (Ensembl:ENST00000523916) - p.Gln217His (Ensembl:ENST00000308394) - c.651G>T (Ensembl:ENST00000308394) Source type: large scale study | |||||||
rs371145290 | 218 | S>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.625) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629453G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629453G>A Locations: - p.Ser218Leu (Ensembl:ENST00000308394) - c.653C>T (Ensembl:ENST00000308394) - p.Ser218Leu (Ensembl:ENST00000523916) - c.653C>T (Ensembl:ENST00000523916) - p.Ser218Leu (Ensembl:ENST00000700100) - c.653C>T (Ensembl:ENST00000700100) - p.Ser218Leu (Ensembl:ENST00000700101) - c.653C>T (Ensembl:ENST00000700101) Source type: large scale study | |||||||
COSV57724630 | 221 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184629445C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184629445C>T Locations: - p.Ala221Thr (cosmic curated:ENST00000523916) - c.661G>A (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1741896317 | 222 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.184629440C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629440C>T Locations: - p.Met222Ile (Ensembl:ENST00000700101) - c.666G>A (Ensembl:ENST00000700101) - p.Met222Ile (Ensembl:ENST00000308394) - c.666G>A (Ensembl:ENST00000308394) - p.Met222Ile (Ensembl:ENST00000700100) - c.666G>A (Ensembl:ENST00000700100) - p.Met222Ile (Ensembl:ENST00000523916) - c.666G>A (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1209850813 | 222 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184629441A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629441A>G Locations: - p.Met222Thr (Ensembl:ENST00000308394) - c.665T>C (Ensembl:ENST00000308394) - p.Met222Thr (Ensembl:ENST00000523916) - c.665T>C (Ensembl:ENST00000523916) - p.Met222Thr (Ensembl:ENST00000700101) - c.665T>C (Ensembl:ENST00000700101) - p.Met222Thr (Ensembl:ENST00000700100) - c.665T>C (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs1438069348 | 222 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000004.12:g.184629442T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629442T>C Locations: - p.Met222Val (Ensembl:ENST00000700101) - c.664A>G (Ensembl:ENST00000700101) - p.Met222Val (Ensembl:ENST00000308394) - c.664A>G (Ensembl:ENST00000308394) - p.Met222Val (Ensembl:ENST00000700100) - c.664A>G (Ensembl:ENST00000700100) - p.Met222Val (Ensembl:ENST00000523916) - c.664A>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
TCGA novel | 225 | Q>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000004.12:g.184629430_184629432ACT>CG Consequence type: frameshift Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629430_184629432ACT>CG Locations: - c.674_676delinsCG (NCI-TCGA:ENST00000308394) - p.Q225Pfs*100 (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs762726706 | 225 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000004.12:g.184629432T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629432T>C Locations: - p.Gln225Arg (Ensembl:ENST00000700100) - c.674A>G (Ensembl:ENST00000700100) - p.Gln225Arg (Ensembl:ENST00000700101) - c.674A>G (Ensembl:ENST00000700101) - p.Gln225Arg (Ensembl:ENST00000308394) - c.674A>G (Ensembl:ENST00000308394) - p.Gln225Arg (Ensembl:ENST00000523916) - c.674A>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs137982553 | 226 | Y>H | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.329) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000004.12:g.184629430A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629430A>G Locations: - p.Tyr226His (Ensembl:ENST00000523916) - c.676T>C (Ensembl:ENST00000523916) - p.Tyr226His (Ensembl:ENST00000700101) - c.676T>C (Ensembl:ENST00000700101) - p.Tyr226His (Ensembl:ENST00000700100) - c.676T>C (Ensembl:ENST00000700100) - p.Tyr226His (Ensembl:ENST00000308394) - c.676T>C (Ensembl:ENST00000308394) Source type: large scale study | |||||||
COSV107344676 | 227 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184629427C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184629427C>T Locations: - p.Ala227Thr (cosmic curated:ENST00000523916) - c.679G>A (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs772892566 | 227 | A>V | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184629426G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629426G>A Locations: - p.Ala227Val (Ensembl:ENST00000700100) - c.680C>T (Ensembl:ENST00000700100) - p.Ala227Val (Ensembl:ENST00000523916) - c.680C>T (Ensembl:ENST00000523916) - p.Ala227Val (Ensembl:ENST00000700101) - c.680C>T (Ensembl:ENST00000700101) - p.Ala227Val (Ensembl:ENST00000308394) - c.680C>T (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1021939847 | 228 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000004.12:g.184629422G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629422G>C Locations: - p.Asp228Glu (Ensembl:ENST00000308394) - c.684C>G (Ensembl:ENST00000308394) - p.Asp228Glu (Ensembl:ENST00000700101) - c.684C>G (Ensembl:ENST00000700101) - p.Asp228Glu (Ensembl:ENST00000700100) - c.684C>G (Ensembl:ENST00000700100) - p.Asp228Glu (Ensembl:ENST00000523916) - c.684C>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs146955836 | 228 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.14) - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000004.12:g.184629424C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629424C>T Locations: - p.D228N (NCI-TCGA:ENST00000308394) - p.D228N (NCI-TCGA:ENST00000523916) - p.Asp228Asn (Ensembl:ENST00000523916) - c.682G>A (Ensembl:ENST00000523916) - p.Asp228Asn (Ensembl:ENST00000700100) - c.682G>A (Ensembl:ENST00000700100) - p.Asp228Asn (Ensembl:ENST00000700101) - c.682G>A (Ensembl:ENST00000700101) - p.Asp228Asn (Ensembl:ENST00000308394) - c.682G>A (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs930423115 | 229 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184629419C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629419C>G Locations: - p.Lys229Asn (Ensembl:ENST00000308394) - c.687G>C (Ensembl:ENST00000308394) - p.Lys229Asn (Ensembl:ENST00000700100) - c.687G>C (Ensembl:ENST00000700100) - p.Lys229Asn (Ensembl:ENST00000700101) - c.687G>C (Ensembl:ENST00000700101) - p.Lys229Asn (Ensembl:ENST00000523916) - c.687G>C (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
TCGA novel | 229 | K>S | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000004.12:g.184629420del Consequence type: frameshift Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629420del Locations: - c.686del (NCI-TCGA:ENST00000308394) - p.K229Sfs*96 (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV57725273 | 231 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.184629415C>G Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629415C>G Locations: - c.691G>C (NCI-TCGA:ENST00000308394) - p.E231Q (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs776313562 | 233 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184629407C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629407C>T Locations: - p.Met233Ile (Ensembl:ENST00000700100) - c.699G>A (Ensembl:ENST00000700100) - p.Met233Ile (Ensembl:ENST00000308394) - c.699G>A (Ensembl:ENST00000308394) - p.Met233Ile (Ensembl:ENST00000700101) - c.699G>A (Ensembl:ENST00000700101) - p.Met233Ile (Ensembl:ENST00000523916) - c.699G>A (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1415201058 | 233 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184629408A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629408A>G Locations: - p.Met233Thr (Ensembl:ENST00000700100) - c.698T>C (Ensembl:ENST00000700100) - p.Met233Thr (Ensembl:ENST00000523916) - c.698T>C (Ensembl:ENST00000523916) - p.Met233Thr (Ensembl:ENST00000308394) - c.698T>C (Ensembl:ENST00000308394) - p.Met233Thr (Ensembl:ENST00000700101) - c.698T>C (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1170037815 | 233 | M>V | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.184629409T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629409T>C Locations: - p.Met233Val (Ensembl:ENST00000700100) - c.697A>G (Ensembl:ENST00000700100) - p.Met233Val (Ensembl:ENST00000308394) - c.697A>G (Ensembl:ENST00000308394) - p.Met233Val (Ensembl:ENST00000700101) - c.697A>G (Ensembl:ENST00000700101) - p.Met233Val (Ensembl:ENST00000523916) - c.697A>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV57725540 rs964440992 | 234 | H>Q | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000004.12:g.184629404G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629404G>T Locations: - p.His234Gln (Ensembl:ENST00000523916) - c.702C>A (Ensembl:ENST00000523916) - p.His234Gln (Ensembl:ENST00000700100) - c.702C>A (Ensembl:ENST00000700100) - p.His234Gln (Ensembl:ENST00000700101) - c.702C>A (Ensembl:ENST00000700101) - p.His234Gln (Ensembl:ENST00000308394) - c.702C>A (Ensembl:ENST00000308394) Source type: large scale study | |||||||
rs2149961679 | 234 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.201) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184629405T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629405T>C Locations: - p.His234Arg (Ensembl:ENST00000700100) - c.701A>G (Ensembl:ENST00000700100) - p.His234Arg (Ensembl:ENST00000523916) - c.701A>G (Ensembl:ENST00000523916) - p.His234Arg (Ensembl:ENST00000308394) - c.701A>G (Ensembl:ENST00000308394) - p.His234Arg (Ensembl:ENST00000700101) - c.701A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1741893497 | 235 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.546) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184629403T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629403T>C Locations: - p.Ile235Val (Ensembl:ENST00000700101) - c.703A>G (Ensembl:ENST00000700101) - p.Ile235Val (Ensembl:ENST00000308394) - c.703A>G (Ensembl:ENST00000308394) - p.Ile235Val (Ensembl:ENST00000700100) - c.703A>G (Ensembl:ENST00000700100) - p.Ile235Val (Ensembl:ENST00000523916) - c.703A>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1036029017 | 237 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629396G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629396G>T Locations: - p.Thr237Asn (Ensembl:ENST00000523916) - c.710C>A (Ensembl:ENST00000523916) - p.Thr237Asn (Ensembl:ENST00000308394) - c.710C>A (Ensembl:ENST00000308394) - p.Thr237Asn (Ensembl:ENST00000700101) - c.710C>A (Ensembl:ENST00000700101) - p.Thr237Asn (Ensembl:ENST00000700100) - c.710C>A (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
COSV57724643 | 237 | T>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184629397T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184629397T>A Locations: - p.Thr237Ser (cosmic curated:ENST00000523916) - c.709A>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs747505178 | 238 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.184629393C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629393C>T Locations: - p.Arg238Gln (Ensembl:ENST00000523916) - c.713G>A (Ensembl:ENST00000523916) - p.Arg238Gln (Ensembl:ENST00000308394) - c.713G>A (Ensembl:ENST00000308394) - p.Arg238Gln (Ensembl:ENST00000700101) - c.713G>A (Ensembl:ENST00000700101) - p.Arg238Gln (Ensembl:ENST00000700100) - c.713G>A (Ensembl:ENST00000700100) Source type: large scale study | |||||||
COSV57725091 rs917537082 | 238 | R>W | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.184629394G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629394G>A Locations: - p.Arg238Trp (Ensembl:ENST00000308394) - c.712C>T (Ensembl:ENST00000308394) - p.Arg238Trp (Ensembl:ENST00000700100) - c.712C>T (Ensembl:ENST00000700100) - p.Arg238Trp (Ensembl:ENST00000523916) - c.712C>T (Ensembl:ENST00000523916) - p.Arg238Trp (Ensembl:ENST00000700101) - c.712C>T (Ensembl:ENST00000700101) Source type: large scale study | |||||||
COSV57726025 rs1429740601 | 239 | V>I | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.799) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000004.12:g.184629391C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629391C>T Locations: - p.Val239Ile (Ensembl:ENST00000700101) - c.715G>A (Ensembl:ENST00000700101) - p.Val239Ile (Ensembl:ENST00000700100) - c.715G>A (Ensembl:ENST00000700100) - p.Val239Ile (Ensembl:ENST00000308394) - c.715G>A (Ensembl:ENST00000308394) - p.Val239Ile (Ensembl:ENST00000523916) - c.715G>A (Ensembl:ENST00000523916) Source type: large scale study | |||||||
COSV57724767 rs370247095 | 241 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000004.12:g.184629385G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629385G>A Locations: - p.R241* (NCI-TCGA:ENST00000308394) - p.R241* (NCI-TCGA:ENST00000523916) - p.Arg241Ter (Ensembl:ENST00000523916) - c.721C>T (Ensembl:ENST00000523916) - p.Arg241Ter (Ensembl:ENST00000700100) - c.721C>T (Ensembl:ENST00000700100) - p.Arg241Ter (Ensembl:ENST00000700101) - c.721C>T (Ensembl:ENST00000700101) - p.Arg241Ter (Ensembl:ENST00000308394) - c.721C>T (Ensembl:ENST00000308394) Source type: large scale study | |||||||
rs746265920 | 241 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000004.12:g.184629384C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629384C>A Locations: - p.Arg241Leu (Ensembl:ENST00000700100) - c.722G>T (Ensembl:ENST00000700100) - p.Arg241Leu (Ensembl:ENST00000523916) - c.722G>T (Ensembl:ENST00000523916) - p.Arg241Leu (Ensembl:ENST00000700101) - c.722G>T (Ensembl:ENST00000700101) - p.Arg241Leu (Ensembl:ENST00000308394) - c.722G>T (Ensembl:ENST00000308394) Source type: large scale study | |||||||
rs746265920 | 241 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000004.12:g.184629384C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629384C>T Locations: - p.Arg241Gln (Ensembl:ENST00000700101) - c.722G>A (Ensembl:ENST00000700101) - p.Arg241Gln (Ensembl:ENST00000700100) - c.722G>A (Ensembl:ENST00000700100) - p.Arg241Gln (Ensembl:ENST00000523916) - c.722G>A (Ensembl:ENST00000523916) - p.Arg241Gln (Ensembl:ENST00000308394) - c.722G>A (Ensembl:ENST00000308394) Source type: large scale study | |||||||
rs1741891453 | 242 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629382T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629382T>C Locations: - p.Lys242Glu (Ensembl:ENST00000523916) - c.724A>G (Ensembl:ENST00000523916) - p.Lys242Glu (Ensembl:ENST00000700101) - c.724A>G (Ensembl:ENST00000700101) - p.Lys242Glu (Ensembl:ENST00000308394) - c.724A>G (Ensembl:ENST00000308394) - p.Lys242Glu (Ensembl:ENST00000700100) - c.724A>G (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
COSV57725074 | 244 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000004.12:g.184629376C>T Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629376C>T Locations: - c.730G>A (NCI-TCGA:ENST00000308394) - p.A244T (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs757499609 | 244 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184629375G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629375G>A Locations: - p.Ala244Val (Ensembl:ENST00000308394) - c.731C>T (Ensembl:ENST00000308394) - p.Ala244Val (Ensembl:ENST00000700100) - c.731C>T (Ensembl:ENST00000700100) - p.Ala244Val (Ensembl:ENST00000700101) - c.731C>T (Ensembl:ENST00000700101) - p.Ala244Val (Ensembl:ENST00000523916) - c.731C>T (Ensembl:ENST00000523916) Source type: large scale study | |||||||
rs749295788 | 246 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.451) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184629370C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629370C>T Locations: - p.Glu246Lys (Ensembl:ENST00000700100) - c.736G>A (Ensembl:ENST00000700100) - p.Glu246Lys (Ensembl:ENST00000523916) - c.736G>A (Ensembl:ENST00000523916) - p.Glu246Lys (Ensembl:ENST00000308394) - c.736G>A (Ensembl:ENST00000308394) - p.Glu246Lys (Ensembl:ENST00000700101) - c.736G>A (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV100394950 | 249 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000004.12:g.184629360G>A Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629360G>A Locations: - c.746C>T (NCI-TCGA:ENST00000308394) - p.S249F (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs79348369 | 249 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629360G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629360G>T Locations: - p.Ser249Tyr (Ensembl:ENST00000523916) - c.746C>A (Ensembl:ENST00000523916) - p.Ser249Tyr (Ensembl:ENST00000700101) - c.746C>A (Ensembl:ENST00000700101) - p.Ser249Tyr (Ensembl:ENST00000700100) - c.746C>A (Ensembl:ENST00000700100) - p.Ser249Tyr (Ensembl:ENST00000308394) - c.746C>A (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1393598499 | 254 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184629346C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629346C>T Locations: - p.Ala254Thr (Ensembl:ENST00000700100) - c.760G>A (Ensembl:ENST00000700100) - p.Ala254Thr (Ensembl:ENST00000700101) - c.760G>A (Ensembl:ENST00000700101) - p.Ala254Thr (Ensembl:ENST00000308394) - c.760G>A (Ensembl:ENST00000308394) - p.Ala254Thr (Ensembl:ENST00000523916) - c.760G>A (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1560876508 | 255 | T>I | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184629342G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629342G>A Locations: - p.Thr255Ile (Ensembl:ENST00000700101) - c.764C>T (Ensembl:ENST00000700101) - p.Thr255Ile (Ensembl:ENST00000700100) - c.764C>T (Ensembl:ENST00000700100) - p.Thr255Ile (Ensembl:ENST00000523916) - c.764C>T (Ensembl:ENST00000523916) - p.Thr255Ile (Ensembl:ENST00000308394) - c.764C>T (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs751514857 | 255 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.828) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.184629343T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629343T>G Locations: - p.Thr255Pro (Ensembl:ENST00000308394) - c.763A>C (Ensembl:ENST00000308394) - p.Thr255Pro (Ensembl:ENST00000700101) - c.763A>C (Ensembl:ENST00000700101) - p.Thr255Pro (Ensembl:ENST00000523916) - c.763A>C (Ensembl:ENST00000523916) - p.Thr255Pro (Ensembl:ENST00000700100) - c.763A>C (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
TCGA novel | 256 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.232) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000004.12:g.184629338A>C Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629338A>C Locations: - c.768T>G (NCI-TCGA:ENST00000308394) - p.F256L (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1741888527 | 257 | H>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.345) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184629336T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629336T>A Locations: - p.His257Leu (Ensembl:ENST00000308394) - c.770A>T (Ensembl:ENST00000308394) - p.His257Leu (Ensembl:ENST00000523916) - c.770A>T (Ensembl:ENST00000523916) - p.His257Leu (Ensembl:ENST00000700100) - c.770A>T (Ensembl:ENST00000700100) - p.His257Leu (Ensembl:ENST00000700101) - c.770A>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV105823715 | 257 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184629337G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184629337G>A Locations: - p.His257Tyr (cosmic curated:ENST00000523916) - c.769C>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1741887993 | 259 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629331T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629331T>C Locations: - p.Lys259Glu (Ensembl:ENST00000308394) - c.775A>G (Ensembl:ENST00000308394) - p.Lys259Glu (Ensembl:ENST00000523916) - c.775A>G (Ensembl:ENST00000523916) - p.Lys259Glu (Ensembl:ENST00000700100) - c.775A>G (Ensembl:ENST00000700100) - p.Lys259Glu (Ensembl:ENST00000700101) - c.775A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
TCGA novel | 259 | K>H | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000004.12:g.184629307_184629338del Consequence type: frameshift Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629307_184629338del Locations: - c.768_799del (NCI-TCGA:ENST00000308394) - p.K259Hfs*19 (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV104413494 | 259 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184629329C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184629329C>A Locations: - p.Lys259Asn (cosmic curated:ENST00000523916) - c.777G>T (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs761562836 | 262 | I>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.923) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629322T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629322T>A Locations: - p.Ile262Phe (Ensembl:ENST00000308394) - c.784A>T (Ensembl:ENST00000308394) - p.Ile262Phe (Ensembl:ENST00000523916) - c.784A>T (Ensembl:ENST00000523916) - p.Ile262Phe (Ensembl:ENST00000700100) - c.784A>T (Ensembl:ENST00000700100) - p.Ile262Phe (Ensembl:ENST00000700101) - c.784A>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs761562836 | 262 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.184629322T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629322T>C Locations: - p.Ile262Val (Ensembl:ENST00000308394) - c.784A>G (Ensembl:ENST00000308394) - p.Ile262Val (Ensembl:ENST00000523916) - c.784A>G (Ensembl:ENST00000523916) - p.Ile262Val (Ensembl:ENST00000700100) - c.784A>G (Ensembl:ENST00000700100) - p.Ile262Val (Ensembl:ENST00000700101) - c.784A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
TCGA novel | 263 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629318G>A Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629318G>A Locations: - c.788C>T (NCI-TCGA:ENST00000308394) - p.P263L (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 263 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629319G>A Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629319G>A Locations: - c.787C>T (NCI-TCGA:ENST00000308394) - p.P263S (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1380940766 | 264 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.184629316A>T Codon: TGT/AGT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629316A>T Locations: - p.Cys264Ser (Ensembl:ENST00000523916) - c.790T>A (Ensembl:ENST00000523916) - p.Cys264Ser (Ensembl:ENST00000308394) - c.790T>A (Ensembl:ENST00000308394) - p.Cys264Ser (Ensembl:ENST00000700101) - c.790T>A (Ensembl:ENST00000700101) - p.Cys264Ser (Ensembl:ENST00000700100) - c.790T>A (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs200883856 | 266 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.184629310C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629310C>T Locations: - p.Val266Ile (Ensembl:ENST00000700101) - c.796G>A (Ensembl:ENST00000700101) - p.Val266Ile (Ensembl:ENST00000700100) - c.796G>A (Ensembl:ENST00000700100) - p.Val266Ile (Ensembl:ENST00000523916) - c.796G>A (Ensembl:ENST00000523916) - p.Val266Ile (Ensembl:ENST00000308394) - c.796G>A (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs372434595 | 268 | M>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629302C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629302C>T Locations: - p.Met268Ile (Ensembl:ENST00000700101) - c.804G>A (Ensembl:ENST00000700101) - p.Met268Ile (Ensembl:ENST00000700100) - c.804G>A (Ensembl:ENST00000700100) - p.Met268Ile (Ensembl:ENST00000308394) - c.804G>A (Ensembl:ENST00000308394) - p.Met268Ile (Ensembl:ENST00000523916) - c.804G>A (Ensembl:ENST00000523916) Source type: large scale study | |||||||
rs1741886644 | 268 | M>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.184629303A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629303A>C Locations: - p.Met268Arg (Ensembl:ENST00000308394) - c.803T>G (Ensembl:ENST00000308394) - p.Met268Arg (Ensembl:ENST00000700101) - c.803T>G (Ensembl:ENST00000700101) - p.Met268Arg (Ensembl:ENST00000700100) - c.803T>G (Ensembl:ENST00000700100) - p.Met268Arg (Ensembl:ENST00000523916) - c.803T>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1741886824 | 268 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629304T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629304T>C Locations: - p.Met268Val (Ensembl:ENST00000700100) - c.802A>G (Ensembl:ENST00000700100) - p.Met268Val (Ensembl:ENST00000308394) - c.802A>G (Ensembl:ENST00000308394) - p.Met268Val (Ensembl:ENST00000700101) - c.802A>G (Ensembl:ENST00000700101) - p.Met268Val (Ensembl:ENST00000523916) - c.802A>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1741886082 | 270 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629298T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629298T>C Locations: - p.Thr270Ala (Ensembl:ENST00000308394) - c.808A>G (Ensembl:ENST00000308394) - p.Thr270Ala (Ensembl:ENST00000700100) - c.808A>G (Ensembl:ENST00000700100) - p.Thr270Ala (Ensembl:ENST00000523916) - c.808A>G (Ensembl:ENST00000523916) - p.Thr270Ala (Ensembl:ENST00000700101) - c.808A>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
rs1741885814 | 270 | T>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629297G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629297G>T Locations: - p.Thr270Lys (Ensembl:ENST00000700101) - c.809C>A (Ensembl:ENST00000700101) - p.Thr270Lys (Ensembl:ENST00000700100) - c.809C>A (Ensembl:ENST00000700100) - p.Thr270Lys (Ensembl:ENST00000523916) - c.809C>A (Ensembl:ENST00000523916) - p.Thr270Lys (Ensembl:ENST00000308394) - c.809C>A (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1741885814 | 270 | T>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.184629297G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629297G>C Locations: - p.Thr270Arg (Ensembl:ENST00000308394) - c.809C>G (Ensembl:ENST00000308394) - p.Thr270Arg (Ensembl:ENST00000700101) - c.809C>G (Ensembl:ENST00000700101) - p.Thr270Arg (Ensembl:ENST00000700100) - c.809C>G (Ensembl:ENST00000700100) - p.Thr270Arg (Ensembl:ENST00000523916) - c.809C>G (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs1741885435 | 271 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629293T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629293T>A Locations: - p.Lys271Asn (Ensembl:ENST00000700100) - c.813A>T (Ensembl:ENST00000700100) - p.Lys271Asn (Ensembl:ENST00000700101) - c.813A>T (Ensembl:ENST00000700101) - p.Lys271Asn (Ensembl:ENST00000308394) - c.813A>T (Ensembl:ENST00000308394) - p.Lys271Asn (Ensembl:ENST00000523916) - c.813A>T (Ensembl:ENST00000523916) Source type: large scale study Cross-references: | |||||||
COSV57724864 rs1037653105 | 272 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184629292C>A Codon: GAA/TAA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629292C>A Locations: - p.E272* (NCI-TCGA:ENST00000308394) - p.E272* (NCI-TCGA:ENST00000523916) - p.Glu272Ter (Ensembl:ENST00000523916) - c.814G>T (Ensembl:ENST00000523916) - p.Glu272Ter (Ensembl:ENST00000700101) - c.814G>T (Ensembl:ENST00000700101) - p.Glu272Ter (Ensembl:ENST00000308394) - c.814G>T (Ensembl:ENST00000308394) - p.Glu272Ter (Ensembl:ENST00000700100) - c.814G>T (Ensembl:ENST00000700100) Source type: large scale study | |||||||
rs1012893902 | 272 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000004.12:g.184629290T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629290T>G Locations: - p.Glu272Asp (Ensembl:ENST00000700100) - c.816A>C (Ensembl:ENST00000700100) - p.Glu272Asp (Ensembl:ENST00000523916) - c.816A>C (Ensembl:ENST00000523916) - p.Glu272Asp (Ensembl:ENST00000700101) - c.816A>C (Ensembl:ENST00000700101) - p.Glu272Asp (Ensembl:ENST00000308394) - c.816A>C (Ensembl:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs1741884818 | 272 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.184629291T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629291T>C Locations: - p.Glu272Gly (Ensembl:ENST00000308394) - c.815A>G (Ensembl:ENST00000308394) - p.Glu272Gly (Ensembl:ENST00000523916) - c.815A>G (Ensembl:ENST00000523916) - p.Glu272Gly (Ensembl:ENST00000700101) - c.815A>G (Ensembl:ENST00000700101) - p.Glu272Gly (Ensembl:ENST00000700100) - c.815A>G (Ensembl:ENST00000700100) Source type: large scale study Cross-references: | |||||||
rs760142031 | 274 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.184629284A>C Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629284A>C Locations: - p.Tyr274Ter (Ensembl:ENST00000700100) - c.822T>G (Ensembl:ENST00000700100) - p.Tyr274Ter (Ensembl:ENST00000523916) - c.822T>G (Ensembl:ENST00000523916) - p.Tyr274Ter (Ensembl:ENST00000308394) - c.822T>G (Ensembl:ENST00000308394) - p.Tyr274Ter (Ensembl:ENST00000700101) - c.822T>G (Ensembl:ENST00000700101) Source type: large scale study Cross-references: | |||||||
COSV57725564 | 275 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.184629281A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000004.12:g.184629281A>T Locations: - p.Phe275Leu (cosmic curated:ENST00000523916) - c.825T>A (cosmic curated:ENST00000523916) Source type: large scale study Cross-references: | |||||||
rs369841492 | 276 | Y>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000004.12:g.184629280A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629280A>G Locations: - p.Tyr276His (Ensembl:ENST00000700100) - c.826T>C (Ensembl:ENST00000700100) - p.Tyr276His (Ensembl:ENST00000308394) - c.826T>C (Ensembl:ENST00000308394) - p.Tyr276His (Ensembl:ENST00000700101) - c.826T>C (Ensembl:ENST00000700101) - p.Tyr276His (Ensembl:ENST00000523916) - c.826T>C (Ensembl:ENST00000523916) Source type: large scale study | |||||||
COSV57725598 | 277 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000004.12:g.184629275G>C Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629275G>C Locations: - c.831C>G (NCI-TCGA:ENST00000308394) - p.H277Q (NCI-TCGA:ENST00000308394) Source type: large scale study Cross-references: | |||||||
rs147767351 | 277 | H>Y | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000004.12:g.184629277G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 4q35.1 Genomic location: NC_000004.12:g.184629277G>A Locations: - p.His277Tyr (Ensembl:ENST00000700100) - c.829C>T (Ensembl:ENST00000700100) - p.His277Tyr (Ensembl:ENST00000523916) - c.829C>T (Ensembl:ENST00000523916) - p.His277Tyr (Ensembl:ENST00000308394) - c.829C>T (Ensembl:ENST00000308394) - p.His277Tyr (Ensembl:ENST00000700101) - c.829C>T (Ensembl:ENST00000700101) Source type: large scale study Cross-references: |