Q9UFW8 · CGBP1_HUMAN
- ProteinCGG triplet repeat-binding protein 1
- GeneCGGBP1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids167 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV58852424 | 3 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055970G>A Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055970G>A Locations: - p.R3* (NCI-TCGA:ENST00000309534) - p.Arg3Ter (cosmic curated:ENST00000309534) - c.7C>T (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1706532143 | 3 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.88055970G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055970G>C Locations: - p.Arg3Gly (Ensembl:ENST00000309534) - c.7C>G (Ensembl:ENST00000309534) - p.Arg3Gly (Ensembl:ENST00000482016) - c.7C>G (Ensembl:ENST00000482016) - p.Arg3Gly (Ensembl:ENST00000462901) - c.7C>G (Ensembl:ENST00000462901) - p.Arg3Gly (Ensembl:ENST00000398392) - c.7C>G (Ensembl:ENST00000398392) - p.Arg3Gly (Ensembl:ENST00000675130) - c.7C>G (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs779164321 | 3 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000003.12:g.88055969C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055969C>T Locations: - p.Arg3Gln (Ensembl:ENST00000675130) - c.8G>A (Ensembl:ENST00000675130) - p.Arg3Gln (Ensembl:ENST00000482016) - c.8G>A (Ensembl:ENST00000482016) - p.Arg3Gln (Ensembl:ENST00000398392) - c.8G>A (Ensembl:ENST00000398392) - p.Arg3Gln (Ensembl:ENST00000309534) - c.8G>A (Ensembl:ENST00000309534) - p.Arg3Gln (Ensembl:ENST00000462901) - c.8G>A (Ensembl:ENST00000462901) Source type: large scale study | |||||||
rs1233568629 | 4 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000003.12:g.88055965A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055965A>C Locations: - p.Phe4Leu (Ensembl:ENST00000482016) - c.12T>G (Ensembl:ENST00000482016) - p.Phe4Leu (Ensembl:ENST00000309534) - c.12T>G (Ensembl:ENST00000309534) - p.Phe4Leu (Ensembl:ENST00000675130) - c.12T>G (Ensembl:ENST00000675130) - p.Phe4Leu (Ensembl:ENST00000462901) - c.12T>G (Ensembl:ENST00000462901) - p.Phe4Leu (Ensembl:ENST00000398392) - c.12T>G (Ensembl:ENST00000398392) Source type: large scale study Cross-references: | |||||||
rs1328024237 | 6 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000003.12:g.88055961C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055961C>T Locations: - p.Val6Ile (Ensembl:ENST00000482016) - c.16G>A (Ensembl:ENST00000482016) - p.Val6Ile (Ensembl:ENST00000675130) - c.16G>A (Ensembl:ENST00000675130) - p.Val6Ile (Ensembl:ENST00000462901) - c.16G>A (Ensembl:ENST00000462901) - p.Val6Ile (Ensembl:ENST00000309534) - c.16G>A (Ensembl:ENST00000309534) - p.Val6Ile (Ensembl:ENST00000398392) - c.16G>A (Ensembl:ENST00000398392) Source type: large scale study Cross-references: | |||||||
COSV100531925 | 8 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.79) Somatic: Yes Accession: NC_000003.12:g.88055955C>T Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055955C>T Locations: - p.A8T (NCI-TCGA:ENST00000309534) - p.Ala8Thr (cosmic curated:ENST00000309534) - c.22G>A (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs2107559010 | 9 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000003.12:g.88055951G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055951G>A Locations: - p.Pro9Leu (Ensembl:ENST00000675130) - c.26C>T (Ensembl:ENST00000675130) - p.Pro9Leu (Ensembl:ENST00000462901) - c.26C>T (Ensembl:ENST00000462901) - p.Pro9Leu (Ensembl:ENST00000398392) - c.26C>T (Ensembl:ENST00000398392) - p.Pro9Leu (Ensembl:ENST00000482016) - c.26C>T (Ensembl:ENST00000482016) - p.Pro9Leu (Ensembl:ENST00000309534) - c.26C>T (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1336879219 | 9 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000003.12:g.88055952G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055952G>A Locations: - p.Pro9Ser (Ensembl:ENST00000398392) - c.25C>T (Ensembl:ENST00000398392) - p.Pro9Ser (Ensembl:ENST00000675130) - c.25C>T (Ensembl:ENST00000675130) - p.Pro9Ser (Ensembl:ENST00000462901) - c.25C>T (Ensembl:ENST00000462901) - p.Pro9Ser (Ensembl:ENST00000482016) - c.25C>T (Ensembl:ENST00000482016) - p.Pro9Ser (Ensembl:ENST00000309534) - c.25C>T (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1357405838 | 10 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000003.12:g.88055949G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055949G>A Locations: - p.Pro10Ser (Ensembl:ENST00000462901) - c.28C>T (Ensembl:ENST00000462901) - p.Pro10Ser (Ensembl:ENST00000675130) - c.28C>T (Ensembl:ENST00000675130) - p.Pro10Ser (Ensembl:ENST00000398392) - c.28C>T (Ensembl:ENST00000398392) - p.Pro10Ser (Ensembl:ENST00000482016) - c.28C>T (Ensembl:ENST00000482016) - p.Pro10Ser (Ensembl:ENST00000309534) - c.28C>T (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1706531582 | 11 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000003.12:g.88055946C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055946C>G Locations: - p.Ala11Pro (Ensembl:ENST00000462901) - c.31G>C (Ensembl:ENST00000462901) - p.Ala11Pro (Ensembl:ENST00000675130) - c.31G>C (Ensembl:ENST00000675130) - p.Ala11Pro (Ensembl:ENST00000398392) - c.31G>C (Ensembl:ENST00000398392) - p.Ala11Pro (Ensembl:ENST00000482016) - c.31G>C (Ensembl:ENST00000482016) - p.Ala11Pro (Ensembl:ENST00000309534) - c.31G>C (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
COSV58852517 rs955367173 | 12 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.3) Somatic: Yes Accession: NC_000003.12:g.88055942C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055942C>T Locations: - p.R12Q (NCI-TCGA:ENST00000398392) - p.R12Q (NCI-TCGA:ENST00000482016) - p.R12Q (NCI-TCGA:ENST00000309534) - p.R12Q (NCI-TCGA:ENST00000462901) - p.R12Q (NCI-TCGA:ENST00000675130) - p.Arg12Gln (Ensembl:ENST00000675130) - c.35G>A (Ensembl:ENST00000675130) - p.Arg12Gln (Ensembl:ENST00000398392) - c.35G>A (Ensembl:ENST00000398392) - p.Arg12Gln (Ensembl:ENST00000482016) - c.35G>A (Ensembl:ENST00000482016) - p.Arg12Gln (Ensembl:ENST00000462901) - c.35G>A (Ensembl:ENST00000462901) - p.Arg12Gln (Ensembl:ENST00000309534) - c.35G>A (Ensembl:ENST00000309534) Source type: large scale study | |||||||
rs1385585373 | 14 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000003.12:g.88055937G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055937G>A Locations: - p.Arg14Cys (Ensembl:ENST00000482016) - c.40C>T (Ensembl:ENST00000482016) - p.Arg14Cys (Ensembl:ENST00000398392) - c.40C>T (Ensembl:ENST00000398392) - p.Arg14Cys (Ensembl:ENST00000309534) - c.40C>T (Ensembl:ENST00000309534) - p.Arg14Cys (Ensembl:ENST00000675130) - c.40C>T (Ensembl:ENST00000675130) - p.Arg14Cys (Ensembl:ENST00000462901) - c.40C>T (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
COSV58853047 | 14 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000003.12:g.88055937G>C Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055937G>C Locations: - p.R14G (NCI-TCGA:ENST00000309534) - p.Arg14Gly (cosmic curated:ENST00000309534) - c.40C>G (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1706531324 | 15 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.88055933G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055933G>C Locations: - p.Ser15Cys (Ensembl:ENST00000462901) - c.44C>G (Ensembl:ENST00000462901) - p.Ser15Cys (Ensembl:ENST00000309534) - c.44C>G (Ensembl:ENST00000309534) - p.Ser15Cys (Ensembl:ENST00000482016) - c.44C>G (Ensembl:ENST00000482016) - p.Ser15Cys (Ensembl:ENST00000675130) - c.44C>G (Ensembl:ENST00000675130) - p.Ser15Cys (Ensembl:ENST00000398392) - c.44C>G (Ensembl:ENST00000398392) Source type: large scale study Cross-references: | |||||||
COSV58852344 | 15 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055933G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055933G>A Locations: - p.Ser15Phe (cosmic curated:ENST00000482016) - c.44C>T (cosmic curated:ENST00000482016) - p.Ser15Phe (cosmic curated:ENST00000462901) - c.44C>T (cosmic curated:ENST00000462901) - p.Ser15Phe (cosmic curated:ENST00000309534) - c.44C>T (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 16 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.88055931T>C Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055931T>C Locations: - c.46A>G (NCI-TCGA:ENST00000309534) - p.K16E (NCI-TCGA:ENST00000309534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV106434507 | 16 | K>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055931T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055931T>G Locations: - p.Lys16Gln (cosmic curated:ENST00000482016) - c.46A>C (cosmic curated:ENST00000482016) - p.Lys16Gln (cosmic curated:ENST00000462901) - c.46A>C (cosmic curated:ENST00000462901) - p.Lys16Gln (cosmic curated:ENST00000309534) - c.46A>C (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
COSV58851812 COSV58851812,COSV58852235 COSV58852235 | 18 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000003.12:g.88055924G>T Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055924G>T Locations: - p.A18D (NCI-TCGA:ENST00000309534) - p.Ala18Asp (cosmic curated:ENST00000309534) - c.53C>A (cosmic curated:ENST00000309534) Source type: large scale study | |||||||
COSV58852235 | 18 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055924G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055924G>A Locations: - p.Ala18Val (cosmic curated:ENST00000309534) - c.53C>T (cosmic curated:ENST00000309534) - p.Ala18Val (cosmic curated:ENST00000482016) - c.53C>T (cosmic curated:ENST00000482016) - p.Ala18Val (cosmic curated:ENST00000462901) - c.53C>T (cosmic curated:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs756382459 | 23 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: tolerated (1) Somatic: No Accession: NC_000003.12:g.88055910G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055910G>C Locations: - p.Pro23Ala (Ensembl:ENST00000462901) - c.67C>G (Ensembl:ENST00000462901) - p.Pro23Ala (Ensembl:ENST00000675130) - c.67C>G (Ensembl:ENST00000675130) - p.Pro23Ala (Ensembl:ENST00000398392) - c.67C>G (Ensembl:ENST00000398392) - p.Pro23Ala (Ensembl:ENST00000482016) - c.67C>G (Ensembl:ENST00000482016) - p.Pro23Ala (Ensembl:ENST00000309534) - c.67C>G (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
COSV58851714 | 23 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055910G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055910G>A Locations: - p.Pro23Ser (cosmic curated:ENST00000482016) - c.67C>T (cosmic curated:ENST00000482016) - p.Pro23Ser (cosmic curated:ENST00000462901) - c.67C>T (cosmic curated:ENST00000462901) - p.Pro23Ser (cosmic curated:ENST00000309534) - c.67C>T (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs771064069 | 25 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000003.12:g.88055902A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055902A>T Locations: - p.Asp25Glu (Ensembl:ENST00000482016) - c.75T>A (Ensembl:ENST00000482016) - p.Asp25Glu (Ensembl:ENST00000675130) - c.75T>A (Ensembl:ENST00000675130) - p.Asp25Glu (Ensembl:ENST00000398392) - c.75T>A (Ensembl:ENST00000398392) - p.Asp25Glu (Ensembl:ENST00000309534) - c.75T>A (Ensembl:ENST00000309534) - p.Asp25Glu (Ensembl:ENST00000462901) - c.75T>A (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
COSV58851749 | 25 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055904C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055904C>A Locations: - p.Asp25Tyr (cosmic curated:ENST00000309534) - c.73G>T (cosmic curated:ENST00000309534) - p.Asp25Tyr (cosmic curated:ENST00000482016) - c.73G>T (cosmic curated:ENST00000482016) - p.Asp25Tyr (cosmic curated:ENST00000462901) - c.73G>T (cosmic curated:ENST00000462901) Source type: large scale study Cross-references: | |||||||
TCGA novel | 26 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.88055901G>A Consequence type: stop gained Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055901G>A Locations: - c.76C>T (NCI-TCGA:ENST00000309534) - p.R26* (NCI-TCGA:ENST00000309534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 29 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.329) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000003.12:g.88055892C>T Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055892C>T Locations: - c.85G>A (NCI-TCGA:ENST00000309534) - p.E29K (NCI-TCGA:ENST00000309534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1161498412 | 32 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000003.12:g.88055882C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055882C>T Locations: - p.Gly32Asp (Ensembl:ENST00000462901) - c.95G>A (Ensembl:ENST00000462901) - p.Gly32Asp (Ensembl:ENST00000675130) - c.95G>A (Ensembl:ENST00000675130) - p.Gly32Asp (Ensembl:ENST00000398392) - c.95G>A (Ensembl:ENST00000398392) - p.Gly32Asp (Ensembl:ENST00000482016) - c.95G>A (Ensembl:ENST00000482016) - p.Gly32Asp (Ensembl:ENST00000309534) - c.95G>A (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1490110977 | 32 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000003.12:g.88055883C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055883C>T Locations: - p.Gly32Ser (Ensembl:ENST00000398392) - c.94G>A (Ensembl:ENST00000398392) - p.Gly32Ser (Ensembl:ENST00000675130) - c.94G>A (Ensembl:ENST00000675130) - p.Gly32Ser (Ensembl:ENST00000309534) - c.94G>A (Ensembl:ENST00000309534) - p.Gly32Ser (Ensembl:ENST00000482016) - c.94G>A (Ensembl:ENST00000482016) - p.Gly32Ser (Ensembl:ENST00000462901) - c.94G>A (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs1706530553 | 35 | H>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.88055874G>C Codon: CAT/GAT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055874G>C Locations: - p.His35Asp (Ensembl:ENST00000482016) - c.103C>G (Ensembl:ENST00000482016) - p.His35Asp (Ensembl:ENST00000675130) - c.103C>G (Ensembl:ENST00000675130) - p.His35Asp (Ensembl:ENST00000309534) - c.103C>G (Ensembl:ENST00000309534) - p.His35Asp (Ensembl:ENST00000462901) - c.103C>G (Ensembl:ENST00000462901) - p.His35Asp (Ensembl:ENST00000398392) - c.103C>G (Ensembl:ENST00000398392) Source type: large scale study Cross-references: | |||||||
rs1364324411 | 35 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0.05) Somatic: No Population frequencies: - MAF: 0.000004007 (gnomAD) Accession: NC_000003.12:g.88055873T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055873T>C Locations: - p.H35R (NCI-TCGA:ENST00000398392) - p.H35R (NCI-TCGA:ENST00000482016) - p.H35R (NCI-TCGA:ENST00000309534) - p.H35R (NCI-TCGA:ENST00000462901) - p.H35R (NCI-TCGA:ENST00000675130) - p.His35Arg (Ensembl:ENST00000309534) - c.104A>G (Ensembl:ENST00000309534) - p.His35Arg (Ensembl:ENST00000482016) - c.104A>G (Ensembl:ENST00000482016) - p.His35Arg (Ensembl:ENST00000398392) - c.104A>G (Ensembl:ENST00000398392) - p.His35Arg (Ensembl:ENST00000675130) - c.104A>G (Ensembl:ENST00000675130) - p.His35Arg (Ensembl:ENST00000462901) - c.104A>G (Ensembl:ENST00000462901) Source type: large scale study | |||||||
COSV105178475 | 36 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055871C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055871C>T Locations: - p.Glu36Lys (cosmic curated:ENST00000482016) - c.106G>A (cosmic curated:ENST00000482016) - p.Glu36Lys (cosmic curated:ENST00000309534) - c.106G>A (cosmic curated:ENST00000309534) - p.Glu36Lys (cosmic curated:ENST00000462901) - c.106G>A (cosmic curated:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs747262023 | 37 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000003.12:g.88055866A>C, NC_000003.12:g.88055866A>T Codon: GAT/GAG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055866A>C, NC_000003.12:g.88055866A>T Locations: - p.Asp37Glu (Ensembl:ENST00000482016) - c.111T>G (Ensembl:ENST00000482016) - p.Asp37Glu (Ensembl:ENST00000675130) - c.111T>G (Ensembl:ENST00000675130) - p.Asp37Glu (Ensembl:ENST00000309534) - c.111T>G (Ensembl:ENST00000309534) - p.Asp37Glu (Ensembl:ENST00000398392) - c.111T>G (Ensembl:ENST00000398392) - p.Asp37Glu (Ensembl:ENST00000462901) - c.111T>G (Ensembl:ENST00000462901) - c.111T>A (Ensembl:ENST00000462901) - c.111T>A (Ensembl:ENST00000675130) - c.111T>A (Ensembl:ENST00000398392) - c.111T>A (Ensembl:ENST00000482016) - c.111T>A (Ensembl:ENST00000309534) Source type: large scale study | |||||||
TCGA novel | 37 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000003.12:g.88055868C>T Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055868C>T Locations: - c.109G>A (NCI-TCGA:ENST00000309534) - p.D37N (NCI-TCGA:ENST00000309534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1449787475 | 38 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000003.12:g.88055864C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055864C>G Locations: - p.Gly38Ala (Ensembl:ENST00000309534) - c.113G>C (Ensembl:ENST00000309534) - p.Gly38Ala (Ensembl:ENST00000462901) - c.113G>C (Ensembl:ENST00000462901) - p.Gly38Ala (Ensembl:ENST00000675130) - c.113G>C (Ensembl:ENST00000675130) - p.Gly38Ala (Ensembl:ENST00000398392) - c.113G>C (Ensembl:ENST00000398392) - p.Gly38Ala (Ensembl:ENST00000482016) - c.113G>C (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
COSV107368771 rs1706530192 | 38 | G>R | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000003.12:g.88055865C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055865C>T Locations: - p.Gly38Arg (Ensembl:ENST00000462901) - c.112G>A (Ensembl:ENST00000462901) - p.Gly38Arg (Ensembl:ENST00000309534) - c.112G>A (Ensembl:ENST00000309534) - p.Gly38Arg (Ensembl:ENST00000398392) - c.112G>A (Ensembl:ENST00000398392) - p.Gly38Arg (Ensembl:ENST00000482016) - c.112G>A (Ensembl:ENST00000482016) - p.Gly38Arg (Ensembl:ENST00000675130) - c.112G>A (Ensembl:ENST00000675130) Source type: large scale study | |||||||
COSV58851418 | 39 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055861C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055861C>T Locations: - p.Gly39Glu (cosmic curated:ENST00000462901) - c.116G>A (cosmic curated:ENST00000462901) - p.Gly39Glu (cosmic curated:ENST00000309534) - c.116G>A (cosmic curated:ENST00000309534) - p.Gly39Glu (cosmic curated:ENST00000482016) - c.116G>A (cosmic curated:ENST00000482016) Source type: large scale study Cross-references: | |||||||
COSV58851609 | 41 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055856G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055856G>A Locations: - p.Leu41Phe (cosmic curated:ENST00000309534) - c.121C>T (cosmic curated:ENST00000309534) - p.Leu41Phe (cosmic curated:ENST00000462901) - c.121C>T (cosmic curated:ENST00000462901) - p.Leu41Phe (cosmic curated:ENST00000482016) - c.121C>T (cosmic curated:ENST00000482016) Source type: large scale study Cross-references: | |||||||
rs762659986 | 42 | F>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.88055853A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055853A>T Locations: - p.Phe42Ile (Ensembl:ENST00000398392) - c.124T>A (Ensembl:ENST00000398392) - p.Phe42Ile (Ensembl:ENST00000675130) - c.124T>A (Ensembl:ENST00000675130) - p.Phe42Ile (Ensembl:ENST00000462901) - c.124T>A (Ensembl:ENST00000462901) - p.Phe42Ile (Ensembl:ENST00000309534) - c.124T>A (Ensembl:ENST00000309534) - p.Phe42Ile (Ensembl:ENST00000482016) - c.124T>A (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
TCGA novel | 45 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000003.12:g.88055844A>G Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055844A>G Locations: - c.133T>C (NCI-TCGA:ENST00000309534) - p.S45P (NCI-TCGA:ENST00000309534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV58851801 rs1368532496 | 45 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000003.12:g.88055843G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055843G>T Locations: - p.S45Y (NCI-TCGA:ENST00000398392) - p.S45Y (NCI-TCGA:ENST00000482016) - p.S45Y (NCI-TCGA:ENST00000309534) - p.S45Y (NCI-TCGA:ENST00000462901) - p.S45Y (NCI-TCGA:ENST00000675130) - p.Ser45Tyr (Ensembl:ENST00000675130) - c.134C>A (Ensembl:ENST00000675130) - p.Ser45Tyr (Ensembl:ENST00000462901) - c.134C>A (Ensembl:ENST00000462901) - p.Ser45Tyr (Ensembl:ENST00000482016) - c.134C>A (Ensembl:ENST00000482016) - p.Ser45Tyr (Ensembl:ENST00000309534) - c.134C>A (Ensembl:ENST00000309534) - p.Ser45Tyr (Ensembl:ENST00000398392) - c.134C>A (Ensembl:ENST00000398392) Source type: large scale study | |||||||
rs775196022 | 47 | N>S | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000003.12:g.88055837T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055837T>C Locations: - p.Asn47Ser (Ensembl:ENST00000482016) - c.140A>G (Ensembl:ENST00000482016) - p.Asn47Ser (Ensembl:ENST00000675130) - c.140A>G (Ensembl:ENST00000675130) - p.Asn47Ser (Ensembl:ENST00000309534) - c.140A>G (Ensembl:ENST00000309534) - p.Asn47Ser (Ensembl:ENST00000398392) - c.140A>G (Ensembl:ENST00000398392) - p.Asn47Ser (Ensembl:ENST00000462901) - c.140A>G (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
COSV104622237 | 51 | N>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055825T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055825T>C Locations: - p.Asn51Ser (cosmic curated:ENST00000482016) - c.152A>G (cosmic curated:ENST00000482016) - p.Asn51Ser (cosmic curated:ENST00000309534) - c.152A>G (cosmic curated:ENST00000309534) - p.Asn51Ser (cosmic curated:ENST00000462901) - c.152A>G (cosmic curated:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs1473605334 | 52 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000003.12:g.88055821A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055821A>C Locations: - p.His52Gln (Ensembl:ENST00000398392) - c.156T>G (Ensembl:ENST00000398392) - p.His52Gln (Ensembl:ENST00000309534) - c.156T>G (Ensembl:ENST00000309534) - p.His52Gln (Ensembl:ENST00000482016) - c.156T>G (Ensembl:ENST00000482016) - p.His52Gln (Ensembl:ENST00000462901) - c.156T>G (Ensembl:ENST00000462901) - p.His52Gln (Ensembl:ENST00000675130) - c.156T>G (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs1706529371 | 53 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000003.12:g.88055820C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055820C>G Locations: - p.Val53Leu (Ensembl:ENST00000482016) - c.157G>C (Ensembl:ENST00000482016) - p.Val53Leu (Ensembl:ENST00000398392) - c.157G>C (Ensembl:ENST00000398392) - p.Val53Leu (Ensembl:ENST00000675130) - c.157G>C (Ensembl:ENST00000675130) - p.Val53Leu (Ensembl:ENST00000309534) - c.157G>C (Ensembl:ENST00000309534) - p.Val53Leu (Ensembl:ENST00000462901) - c.157G>C (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
COSV58851580 rs1350839978 | 54 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.1) Somatic: Yes Population frequencies: - MAF: 0.000004007 (gnomAD) Accession: NC_000003.12:g.88055817G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055817G>A Locations: - p.R54C (NCI-TCGA:ENST00000398392) - p.R54C (NCI-TCGA:ENST00000482016) - p.R54C (NCI-TCGA:ENST00000309534) - p.R54C (NCI-TCGA:ENST00000462901) - p.R54C (NCI-TCGA:ENST00000675130) - p.Arg54Cys (Ensembl:ENST00000675130) - c.160C>T (Ensembl:ENST00000675130) - p.Arg54Cys (Ensembl:ENST00000482016) - c.160C>T (Ensembl:ENST00000482016) - p.Arg54Cys (Ensembl:ENST00000398392) - c.160C>T (Ensembl:ENST00000398392) - p.Arg54Cys (Ensembl:ENST00000462901) - c.160C>T (Ensembl:ENST00000462901) - p.Arg54Cys (Ensembl:ENST00000309534) - c.160C>T (Ensembl:ENST00000309534) Source type: large scale study | |||||||
rs1273731367 | 54 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.88055816C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055816C>T Locations: - p.Arg54His (Ensembl:ENST00000482016) - c.161G>A (Ensembl:ENST00000482016) - p.Arg54His (Ensembl:ENST00000462901) - c.161G>A (Ensembl:ENST00000462901) - p.Arg54His (Ensembl:ENST00000675130) - c.161G>A (Ensembl:ENST00000675130) - p.Arg54His (Ensembl:ENST00000398392) - c.161G>A (Ensembl:ENST00000398392) - p.Arg54His (Ensembl:ENST00000309534) - c.161G>A (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs759189344 | 55 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000003.12:g.88055813T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055813T>C Locations: - p.Lys55Arg (Ensembl:ENST00000309534) - c.164A>G (Ensembl:ENST00000309534) - p.Lys55Arg (Ensembl:ENST00000482016) - c.164A>G (Ensembl:ENST00000482016) - p.Lys55Arg (Ensembl:ENST00000462901) - c.164A>G (Ensembl:ENST00000462901) - p.Lys55Arg (Ensembl:ENST00000675130) - c.164A>G (Ensembl:ENST00000675130) - p.Lys55Arg (Ensembl:ENST00000398392) - c.164A>G (Ensembl:ENST00000398392) Source type: large scale study Cross-references: | |||||||
rs1706528805 | 59 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000003.12:g.88055801C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055801C>G Locations: - p.Ser59Thr (Ensembl:ENST00000309534) - c.176G>C (Ensembl:ENST00000309534) - p.Ser59Thr (Ensembl:ENST00000398392) - c.176G>C (Ensembl:ENST00000398392) - p.Ser59Thr (Ensembl:ENST00000675130) - c.176G>C (Ensembl:ENST00000675130) - p.Ser59Thr (Ensembl:ENST00000462901) - c.176G>C (Ensembl:ENST00000462901) - p.Ser59Thr (Ensembl:ENST00000482016) - c.176G>C (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
TCGA novel | 60 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000003.12:g.88055797G>C Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055797G>C Locations: - c.180C>G (NCI-TCGA:ENST00000309534) - p.D60E (NCI-TCGA:ENST00000309534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100532084 | 62 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000003.12:g.88055793G>A Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055793G>A Locations: - p.L62F (NCI-TCGA:ENST00000309534) - p.Leu62Phe (cosmic curated:ENST00000309534) - c.184C>T (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
COSV105178464 | 62 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055793G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055793G>T Locations: - p.Leu62Ile (cosmic curated:ENST00000309534) - c.184C>A (cosmic curated:ENST00000309534) - p.Leu62Ile (cosmic curated:ENST00000462901) - c.184C>A (cosmic curated:ENST00000462901) - p.Leu62Ile (cosmic curated:ENST00000482016) - c.184C>A (cosmic curated:ENST00000482016) Source type: large scale study Cross-references: | |||||||
rs1386733615 | 66 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000003.12:g.88055781T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055781T>C Locations: - p.Thr66Ala (Ensembl:ENST00000482016) - c.196A>G (Ensembl:ENST00000482016) - p.Thr66Ala (Ensembl:ENST00000398392) - c.196A>G (Ensembl:ENST00000398392) - p.Thr66Ala (Ensembl:ENST00000675130) - c.196A>G (Ensembl:ENST00000675130) - p.Thr66Ala (Ensembl:ENST00000462901) - c.196A>G (Ensembl:ENST00000462901) - p.Thr66Ala (Ensembl:ENST00000309534) - c.196A>G (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 68 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000003.12:g.88055774G>A Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055774G>A Locations: - c.203C>T (NCI-TCGA:ENST00000309534) - p.T68I (NCI-TCGA:ENST00000309534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs770764837 | 68 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000003.12:g.88055775T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055775T>G Locations: - p.Thr68Pro (Ensembl:ENST00000309534) - c.202A>C (Ensembl:ENST00000309534) - p.Thr68Pro (Ensembl:ENST00000482016) - c.202A>C (Ensembl:ENST00000482016) - p.Thr68Pro (Ensembl:ENST00000398392) - c.202A>C (Ensembl:ENST00000398392) - p.Thr68Pro (Ensembl:ENST00000675130) - c.202A>C (Ensembl:ENST00000675130) - p.Thr68Pro (Ensembl:ENST00000462901) - c.202A>C (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs2107558824 | 70 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000003.12:g.88055768C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055768C>T Locations: - p.Arg70Lys (Ensembl:ENST00000309534) - c.209G>A (Ensembl:ENST00000309534) - p.Arg70Lys (Ensembl:ENST00000462901) - c.209G>A (Ensembl:ENST00000462901) - p.Arg70Lys (Ensembl:ENST00000675130) - c.209G>A (Ensembl:ENST00000675130) - p.Arg70Lys (Ensembl:ENST00000398392) - c.209G>A (Ensembl:ENST00000398392) - p.Arg70Lys (Ensembl:ENST00000482016) - c.209G>A (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
TCGA novel | 71 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.88055764C>G Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055764C>G Locations: - c.213G>C (NCI-TCGA:ENST00000309534) - p.K71N (NCI-TCGA:ENST00000309534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1401489177 | 71 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000003.12:g.88055765T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055765T>C Locations: - p.Lys71Arg (Ensembl:ENST00000309534) - c.212A>G (Ensembl:ENST00000309534) - p.Lys71Arg (Ensembl:ENST00000675130) - c.212A>G (Ensembl:ENST00000675130) - p.Lys71Arg (Ensembl:ENST00000462901) - c.212A>G (Ensembl:ENST00000462901) - p.Lys71Arg (Ensembl:ENST00000482016) - c.212A>G (Ensembl:ENST00000482016) - p.Lys71Arg (Ensembl:ENST00000398392) - c.212A>G (Ensembl:ENST00000398392) Source type: large scale study Cross-references: | |||||||
COSV58851535 | 72 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055762G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055762G>A Locations: - p.Ala72Val (cosmic curated:ENST00000309534) - c.215C>T (cosmic curated:ENST00000309534) - p.Ala72Val (cosmic curated:ENST00000462901) - c.215C>T (cosmic curated:ENST00000462901) - p.Ala72Val (cosmic curated:ENST00000482016) - c.215C>T (cosmic curated:ENST00000482016) Source type: large scale study Cross-references: | |||||||
rs1401669894 | 73 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000003.12:g.88055759T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055759T>G Locations: - p.Glu73Ala (Ensembl:ENST00000462901) - c.218A>C (Ensembl:ENST00000462901) - p.Glu73Ala (Ensembl:ENST00000675130) - c.218A>C (Ensembl:ENST00000675130) - p.Glu73Ala (Ensembl:ENST00000398392) - c.218A>C (Ensembl:ENST00000398392) - p.Glu73Ala (Ensembl:ENST00000482016) - c.218A>C (Ensembl:ENST00000482016) - p.Glu73Ala (Ensembl:ENST00000309534) - c.218A>C (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
COSV58852052 | 75 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000003.12:g.88055754C>T Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055754C>T Locations: - p.E75K (NCI-TCGA:ENST00000309534) - p.Glu75Lys (cosmic curated:ENST00000309534) - c.223G>A (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1425866449 | 77 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000003.12:g.88055747T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055747T>C Locations: - p.Gln77Arg (Ensembl:ENST00000675130) - c.230A>G (Ensembl:ENST00000675130) - p.Gln77Arg (Ensembl:ENST00000398392) - c.230A>G (Ensembl:ENST00000398392) - p.Gln77Arg (Ensembl:ENST00000482016) - c.230A>G (Ensembl:ENST00000482016) - p.Gln77Arg (Ensembl:ENST00000309534) - c.230A>G (Ensembl:ENST00000309534) - p.Gln77Arg (Ensembl:ENST00000462901) - c.230A>G (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs778934633 | 78 | N>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000003.12:g.88055745T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055745T>G Locations: - p.Asn78His (Ensembl:ENST00000398392) - c.232A>C (Ensembl:ENST00000398392) - p.Asn78His (Ensembl:ENST00000482016) - c.232A>C (Ensembl:ENST00000482016) - p.Asn78His (Ensembl:ENST00000462901) - c.232A>C (Ensembl:ENST00000462901) - p.Asn78His (Ensembl:ENST00000309534) - c.232A>C (Ensembl:ENST00000309534) - p.Asn78His (Ensembl:ENST00000675130) - c.232A>C (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs1945653580 | 78 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000003.12:g.88055744T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055744T>C Locations: - p.Asn78Ser (Ensembl:ENST00000462901) - c.233A>G (Ensembl:ENST00000462901) - p.Asn78Ser (Ensembl:ENST00000309534) - c.233A>G (Ensembl:ENST00000309534) - p.Asn78Ser (Ensembl:ENST00000482016) - c.233A>G (Ensembl:ENST00000482016) - p.Asn78Ser (Ensembl:ENST00000398392) - c.233A>G (Ensembl:ENST00000398392) - p.Asn78Ser (Ensembl:ENST00000675130) - c.233A>G (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs1706528017 | 80 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000003.12:g.88055738C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055738C>T Locations: - p.Arg80Lys (Ensembl:ENST00000675130) - c.239G>A (Ensembl:ENST00000675130) - p.Arg80Lys (Ensembl:ENST00000398392) - c.239G>A (Ensembl:ENST00000398392) - p.Arg80Lys (Ensembl:ENST00000482016) - c.239G>A (Ensembl:ENST00000482016) - p.Arg80Lys (Ensembl:ENST00000309534) - c.239G>A (Ensembl:ENST00000309534) - p.Arg80Lys (Ensembl:ENST00000462901) - c.239G>A (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs1396768537 | 82 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000003.12:g.88055732T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055732T>C Locations: - p.Lys82Arg (Ensembl:ENST00000398392) - c.245A>G (Ensembl:ENST00000398392) - p.Lys82Arg (Ensembl:ENST00000675130) - c.245A>G (Ensembl:ENST00000675130) - p.Lys82Arg (Ensembl:ENST00000462901) - c.245A>G (Ensembl:ENST00000462901) - p.Lys82Arg (Ensembl:ENST00000309534) - c.245A>G (Ensembl:ENST00000309534) - p.Lys82Arg (Ensembl:ENST00000482016) - c.245A>G (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
COSV58852298 | 84 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055725C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055725C>A Locations: - p.Arg84Ser (cosmic curated:ENST00000462901) - c.252G>T (cosmic curated:ENST00000462901) - p.Arg84Ser (cosmic curated:ENST00000482016) - c.252G>T (cosmic curated:ENST00000482016) - p.Arg84Ser (cosmic curated:ENST00000309534) - c.252G>T (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1299357473 | 85 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000003.12:g.88055723G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055723G>A Locations: - p.Pro85Leu (Ensembl:ENST00000309534) - c.254C>T (Ensembl:ENST00000309534) - p.Pro85Leu (Ensembl:ENST00000482016) - c.254C>T (Ensembl:ENST00000482016) - p.Pro85Leu (Ensembl:ENST00000398392) - c.254C>T (Ensembl:ENST00000398392) - p.Pro85Leu (Ensembl:ENST00000462901) - c.254C>T (Ensembl:ENST00000462901) - p.Pro85Leu (Ensembl:ENST00000675130) - c.254C>T (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
COSV58853291 rs780098553 | 85 | P>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.39) Somatic: Yes Accession: NC_000003.12:g.88055724G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055724G>A Locations: - p.Pro85Ser (Ensembl:ENST00000462901) - c.253C>T (Ensembl:ENST00000462901) - p.Pro85Ser (Ensembl:ENST00000675130) - c.253C>T (Ensembl:ENST00000675130) - p.Pro85Ser (Ensembl:ENST00000398392) - c.253C>T (Ensembl:ENST00000398392) - p.Pro85Ser (Ensembl:ENST00000482016) - c.253C>T (Ensembl:ENST00000482016) - p.Pro85Ser (Ensembl:ENST00000309534) - c.253C>T (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs780098553 | 85 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000003.12:g.88055724G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055724G>T Locations: - p.Pro85Thr (Ensembl:ENST00000462901) - c.253C>A (Ensembl:ENST00000462901) - p.Pro85Thr (Ensembl:ENST00000675130) - c.253C>A (Ensembl:ENST00000675130) - p.Pro85Thr (Ensembl:ENST00000398392) - c.253C>A (Ensembl:ENST00000398392) - p.Pro85Thr (Ensembl:ENST00000482016) - c.253C>A (Ensembl:ENST00000482016) - p.Pro85Thr (Ensembl:ENST00000309534) - c.253C>A (Ensembl:ENST00000309534) Source type: large scale study | |||||||
rs750695344 | 87 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000003.12:g.88055717G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055717G>A Locations: - p.Thr87Ile (Ensembl:ENST00000398392) - c.260C>T (Ensembl:ENST00000398392) - p.Thr87Ile (Ensembl:ENST00000309534) - c.260C>T (Ensembl:ENST00000309534) - p.Thr87Ile (Ensembl:ENST00000675130) - c.260C>T (Ensembl:ENST00000675130) - p.Thr87Ile (Ensembl:ENST00000462901) - c.260C>T (Ensembl:ENST00000462901) - p.Thr87Ile (Ensembl:ENST00000482016) - c.260C>T (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
rs781749484 | 88 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000003.12:g.88055715C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055715C>T Locations: - p.Ala88Thr (Ensembl:ENST00000398392) - c.262G>A (Ensembl:ENST00000398392) - p.Ala88Thr (Ensembl:ENST00000675130) - c.262G>A (Ensembl:ENST00000675130) - p.Ala88Thr (Ensembl:ENST00000482016) - c.262G>A (Ensembl:ENST00000482016) - p.Ala88Thr (Ensembl:ENST00000309534) - c.262G>A (Ensembl:ENST00000309534) - p.Ala88Thr (Ensembl:ENST00000462901) - c.262G>A (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs1350715971 | 89 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000003.12:g.88055711G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055711G>C Locations: - p.Ser89Cys (Ensembl:ENST00000398392) - c.266C>G (Ensembl:ENST00000398392) - p.Ser89Cys (Ensembl:ENST00000482016) - c.266C>G (Ensembl:ENST00000482016) - p.Ser89Cys (Ensembl:ENST00000462901) - c.266C>G (Ensembl:ENST00000462901) - p.Ser89Cys (Ensembl:ENST00000675130) - c.266C>G (Ensembl:ENST00000675130) - p.Ser89Cys (Ensembl:ENST00000309534) - c.266C>G (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
COSV58851770 | 91 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055706G>A Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055706G>A Locations: - p.Q91* (NCI-TCGA:ENST00000309534) - p.Gln91Ter (cosmic curated:ENST00000309534) - c.271C>T (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs751152101 | 92 | C>G | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000003.12:g.88055703A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055703A>C Locations: - p.Cys92Gly (Ensembl:ENST00000482016) - c.274T>G (Ensembl:ENST00000482016) - p.Cys92Gly (Ensembl:ENST00000309534) - c.274T>G (Ensembl:ENST00000309534) - p.Cys92Gly (Ensembl:ENST00000462901) - c.274T>G (Ensembl:ENST00000462901) - p.Cys92Gly (Ensembl:ENST00000398392) - c.274T>G (Ensembl:ENST00000398392) - p.Cys92Gly (Ensembl:ENST00000675130) - c.274T>G (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs763673047 | 92 | C>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000003.12:g.88055702C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055702C>G Locations: - p.Cys92Ser (Ensembl:ENST00000309534) - c.275G>C (Ensembl:ENST00000309534) - p.Cys92Ser (Ensembl:ENST00000398392) - c.275G>C (Ensembl:ENST00000398392) - p.Cys92Ser (Ensembl:ENST00000482016) - c.275G>C (Ensembl:ENST00000482016) - p.Cys92Ser (Ensembl:ENST00000462901) - c.275G>C (Ensembl:ENST00000462901) - p.Cys92Ser (Ensembl:ENST00000675130) - c.275G>C (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs1272282193 | 93 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: tolerated (1) Somatic: No Accession: NC_000003.12:g.88055698G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055698G>T Locations: - p.Asn93Lys (Ensembl:ENST00000675130) - c.279C>A (Ensembl:ENST00000675130) - p.Asn93Lys (Ensembl:ENST00000398392) - c.279C>A (Ensembl:ENST00000398392) - p.Asn93Lys (Ensembl:ENST00000482016) - c.279C>A (Ensembl:ENST00000482016) - p.Asn93Lys (Ensembl:ENST00000309534) - c.279C>A (Ensembl:ENST00000309534) - p.Asn93Lys (Ensembl:ENST00000462901) - c.279C>A (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs1398690425 | 93 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000003.12:g.88055699T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055699T>C Locations: - p.Asn93Ser (Ensembl:ENST00000462901) - c.278A>G (Ensembl:ENST00000462901) - p.Asn93Ser (Ensembl:ENST00000398392) - c.278A>G (Ensembl:ENST00000398392) - p.Asn93Ser (Ensembl:ENST00000309534) - c.278A>G (Ensembl:ENST00000309534) - p.Asn93Ser (Ensembl:ENST00000675130) - c.278A>G (Ensembl:ENST00000675130) - p.Asn93Ser (Ensembl:ENST00000482016) - c.278A>G (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
rs1431797785 | 94 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (1) Somatic: No Accession: NC_000003.12:g.88055696C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055696C>G Locations: - p.Ser94Thr (Ensembl:ENST00000462901) - c.281G>C (Ensembl:ENST00000462901) - p.Ser94Thr (Ensembl:ENST00000482016) - c.281G>C (Ensembl:ENST00000482016) - p.Ser94Thr (Ensembl:ENST00000398392) - c.281G>C (Ensembl:ENST00000398392) - p.Ser94Thr (Ensembl:ENST00000675130) - c.281G>C (Ensembl:ENST00000675130) - p.Ser94Thr (Ensembl:ENST00000309534) - c.281G>C (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs752401994 | 95 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000003.12:g.88055693G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055693G>A Locations: - p.Thr95Ile (Ensembl:ENST00000462901) - c.284C>T (Ensembl:ENST00000462901) - p.Thr95Ile (Ensembl:ENST00000675130) - c.284C>T (Ensembl:ENST00000675130) - p.Thr95Ile (Ensembl:ENST00000398392) - c.284C>T (Ensembl:ENST00000398392) - p.Thr95Ile (Ensembl:ENST00000309534) - c.284C>T (Ensembl:ENST00000309534) - p.Thr95Ile (Ensembl:ENST00000482016) - c.284C>T (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
COSV107368776 | 96 | A>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055690G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055690G>T Locations: - p.Ala96Glu (cosmic curated:ENST00000482016) - c.287C>A (cosmic curated:ENST00000482016) - p.Ala96Glu (cosmic curated:ENST00000309534) - c.287C>A (cosmic curated:ENST00000309534) - p.Ala96Glu (cosmic curated:ENST00000462901) - c.287C>A (cosmic curated:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs1706525921 | 96 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000003.12:g.88055691C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055691C>A Locations: - p.Ala96Ser (Ensembl:ENST00000482016) - c.286G>T (Ensembl:ENST00000482016) - p.Ala96Ser (Ensembl:ENST00000398392) - c.286G>T (Ensembl:ENST00000398392) - p.Ala96Ser (Ensembl:ENST00000675130) - c.286G>T (Ensembl:ENST00000675130) - p.Ala96Ser (Ensembl:ENST00000462901) - c.286G>T (Ensembl:ENST00000462901) - p.Ala96Ser (Ensembl:ENST00000309534) - c.286G>T (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
COSV105178476 | 96 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055691C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055691C>T Locations: - p.Ala96Thr (cosmic curated:ENST00000462901) - c.286G>A (cosmic curated:ENST00000462901) - p.Ala96Thr (cosmic curated:ENST00000309534) - c.286G>A (cosmic curated:ENST00000309534) - p.Ala96Thr (cosmic curated:ENST00000482016) - c.286G>A (cosmic curated:ENST00000482016) Source type: large scale study Cross-references: | |||||||
COSV104398773 rs764743017 | 96 | A>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000003.12:g.88055690G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055690G>A Locations: - p.Ala96Val (Ensembl:ENST00000309534) - c.287C>T (Ensembl:ENST00000309534) - p.Ala96Val (Ensembl:ENST00000482016) - c.287C>T (Ensembl:ENST00000482016) - p.Ala96Val (Ensembl:ENST00000398392) - c.287C>T (Ensembl:ENST00000398392) - p.Ala96Val (Ensembl:ENST00000462901) - c.287C>T (Ensembl:ENST00000462901) - p.Ala96Val (Ensembl:ENST00000675130) - c.287C>T (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs1706525535 | 101 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000003.12:g.88055675A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055675A>G Locations: - p.Val101Ala (Ensembl:ENST00000462901) - c.302T>C (Ensembl:ENST00000462901) - p.Val101Ala (Ensembl:ENST00000675130) - c.302T>C (Ensembl:ENST00000675130) - p.Val101Ala (Ensembl:ENST00000482016) - c.302T>C (Ensembl:ENST00000482016) - p.Val101Ala (Ensembl:ENST00000309534) - c.302T>C (Ensembl:ENST00000309534) - p.Val101Ala (Ensembl:ENST00000398392) - c.302T>C (Ensembl:ENST00000398392) Source type: large scale study Cross-references: | |||||||
rs776286556 | 101 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000003.12:g.88055676C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055676C>G Locations: - p.Val101Leu (Ensembl:ENST00000675130) - c.301G>C (Ensembl:ENST00000675130) - p.Val101Leu (Ensembl:ENST00000309534) - c.301G>C (Ensembl:ENST00000309534) - p.Val101Leu (Ensembl:ENST00000482016) - c.301G>C (Ensembl:ENST00000482016) - p.Val101Leu (Ensembl:ENST00000462901) - c.301G>C (Ensembl:ENST00000462901) - p.Val101Leu (Ensembl:ENST00000398392) - c.301G>C (Ensembl:ENST00000398392) Source type: large scale study | |||||||
rs1429026856 | 102 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000003.12:g.88055673T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055673T>C Locations: - p.Ser102Gly (Ensembl:ENST00000675130) - c.304A>G (Ensembl:ENST00000675130) - p.Ser102Gly (Ensembl:ENST00000398392) - c.304A>G (Ensembl:ENST00000398392) - p.Ser102Gly (Ensembl:ENST00000309534) - c.304A>G (Ensembl:ENST00000309534) - p.Ser102Gly (Ensembl:ENST00000482016) - c.304A>G (Ensembl:ENST00000482016) - p.Ser102Gly (Ensembl:ENST00000462901) - c.304A>G (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
COSV58851462 rs766345098 | 102 | S>N | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: Yes Accession: NC_000003.12:g.88055672C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055672C>T Locations: - p.Ser102Asn (Ensembl:ENST00000482016) - c.305G>A (Ensembl:ENST00000482016) - p.Ser102Asn (Ensembl:ENST00000462901) - c.305G>A (Ensembl:ENST00000462901) - p.Ser102Asn (Ensembl:ENST00000675130) - c.305G>A (Ensembl:ENST00000675130) - p.Ser102Asn (Ensembl:ENST00000398392) - c.305G>A (Ensembl:ENST00000398392) - p.Ser102Asn (Ensembl:ENST00000309534) - c.305G>A (Ensembl:ENST00000309534) Source type: large scale study | |||||||
COSV58851462 COSV58851462,COSV58853025 COSV58853025 | 102 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.86) Somatic: Yes Accession: NC_000003.12:g.88055672C>G Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055672C>G Locations: - p.S102T (NCI-TCGA:ENST00000309534) - p.Ser102Thr (cosmic curated:ENST00000309534) - c.305G>C (cosmic curated:ENST00000309534) Source type: large scale study | |||||||
rs1236490927 | 104 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000003.12:g.88055666A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055666A>G Locations: - p.Ile104Thr (Ensembl:ENST00000398392) - c.311T>C (Ensembl:ENST00000398392) - p.Ile104Thr (Ensembl:ENST00000462901) - c.311T>C (Ensembl:ENST00000462901) - p.Ile104Thr (Ensembl:ENST00000309534) - c.311T>C (Ensembl:ENST00000309534) - p.Ile104Thr (Ensembl:ENST00000482016) - c.311T>C (Ensembl:ENST00000482016) - p.Ile104Thr (Ensembl:ENST00000675130) - c.311T>C (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs1475549013 | 104 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000003.12:g.88055667T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055667T>C Locations: - p.Ile104Val (Ensembl:ENST00000462901) - c.310A>G (Ensembl:ENST00000462901) - p.Ile104Val (Ensembl:ENST00000675130) - c.310A>G (Ensembl:ENST00000675130) - p.Ile104Val (Ensembl:ENST00000482016) - c.310A>G (Ensembl:ENST00000482016) - p.Ile104Val (Ensembl:ENST00000309534) - c.310A>G (Ensembl:ENST00000309534) - p.Ile104Val (Ensembl:ENST00000398392) - c.310A>G (Ensembl:ENST00000398392) Source type: large scale study Cross-references: | |||||||
rs760585998 | 105 | Q>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000003.12:g.88055662C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055662C>G Locations: - p.Gln105His (Ensembl:ENST00000398392) - c.315G>C (Ensembl:ENST00000398392) - p.Gln105His (Ensembl:ENST00000482016) - c.315G>C (Ensembl:ENST00000482016) - p.Gln105His (Ensembl:ENST00000675130) - c.315G>C (Ensembl:ENST00000675130) - p.Gln105His (Ensembl:ENST00000462901) - c.315G>C (Ensembl:ENST00000462901) - p.Gln105His (Ensembl:ENST00000309534) - c.315G>C (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1486333730 | 106 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000003.12:g.88055661C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055661C>G Locations: - p.Asp106His (Ensembl:ENST00000309534) - c.316G>C (Ensembl:ENST00000309534) - p.Asp106His (Ensembl:ENST00000482016) - c.316G>C (Ensembl:ENST00000482016) - p.Asp106His (Ensembl:ENST00000398392) - c.316G>C (Ensembl:ENST00000398392) - p.Asp106His (Ensembl:ENST00000462901) - c.316G>C (Ensembl:ENST00000462901) - p.Asp106His (Ensembl:ENST00000675130) - c.316G>C (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs1240528644 | 107 | F>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.88055657A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055657A>C Locations: - p.Phe107Cys (Ensembl:ENST00000675130) - c.320T>G (Ensembl:ENST00000675130) - p.Phe107Cys (Ensembl:ENST00000462901) - c.320T>G (Ensembl:ENST00000462901) - p.Phe107Cys (Ensembl:ENST00000398392) - c.320T>G (Ensembl:ENST00000398392) - p.Phe107Cys (Ensembl:ENST00000482016) - c.320T>G (Ensembl:ENST00000482016) - p.Phe107Cys (Ensembl:ENST00000309534) - c.320T>G (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1706524780 | 112 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000003.12:g.88055643G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055643G>C Locations: - p.Leu112Val (Ensembl:ENST00000675130) - c.334C>G (Ensembl:ENST00000675130) - p.Leu112Val (Ensembl:ENST00000462901) - c.334C>G (Ensembl:ENST00000462901) - p.Leu112Val (Ensembl:ENST00000482016) - c.334C>G (Ensembl:ENST00000482016) - p.Leu112Val (Ensembl:ENST00000309534) - c.334C>G (Ensembl:ENST00000309534) - p.Leu112Val (Ensembl:ENST00000398392) - c.334C>G (Ensembl:ENST00000398392) Source type: large scale study Cross-references: | |||||||
rs1706524646 | 113 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000003.12:g.88055639T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055639T>C Locations: - p.Glu113Gly (Ensembl:ENST00000309534) - c.338A>G (Ensembl:ENST00000309534) - p.Glu113Gly (Ensembl:ENST00000398392) - c.338A>G (Ensembl:ENST00000398392) - p.Glu113Gly (Ensembl:ENST00000675130) - c.338A>G (Ensembl:ENST00000675130) - p.Glu113Gly (Ensembl:ENST00000462901) - c.338A>G (Ensembl:ENST00000462901) - p.Glu113Gly (Ensembl:ENST00000482016) - c.338A>G (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
COSV58851376 | 114 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000003.12:g.88055636G>C Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055636G>C Locations: - p.A114G (NCI-TCGA:ENST00000309534) - p.Ala114Gly (cosmic curated:ENST00000309534) - c.341C>G (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs773086452 | 114 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000003.12:g.88055636G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055636G>A Locations: - p.Ala114Val (Ensembl:ENST00000398392) - c.341C>T (Ensembl:ENST00000398392) - p.Ala114Val (Ensembl:ENST00000462901) - c.341C>T (Ensembl:ENST00000462901) - p.Ala114Val (Ensembl:ENST00000482016) - c.341C>T (Ensembl:ENST00000482016) - p.Ala114Val (Ensembl:ENST00000309534) - c.341C>T (Ensembl:ENST00000309534) - p.Ala114Val (Ensembl:ENST00000675130) - c.341C>T (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs768752645 | 115 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000003.12:g.88055632G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055632G>T Locations: - p.Asn115Lys (Ensembl:ENST00000398392) - c.345C>A (Ensembl:ENST00000398392) - p.Asn115Lys (Ensembl:ENST00000482016) - c.345C>A (Ensembl:ENST00000482016) - p.Asn115Lys (Ensembl:ENST00000309534) - c.345C>A (Ensembl:ENST00000309534) - p.Asn115Lys (Ensembl:ENST00000462901) - c.345C>A (Ensembl:ENST00000462901) - p.Asn115Lys (Ensembl:ENST00000675130) - c.345C>A (Ensembl:ENST00000675130) Source type: large scale study | |||||||
rs1706524469 | 115 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000003.12:g.88055633T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055633T>C Locations: - p.Asn115Ser (Ensembl:ENST00000675130) - c.344A>G (Ensembl:ENST00000675130) - p.Asn115Ser (Ensembl:ENST00000398392) - c.344A>G (Ensembl:ENST00000398392) - p.Asn115Ser (Ensembl:ENST00000462901) - c.344A>G (Ensembl:ENST00000462901) - p.Asn115Ser (Ensembl:ENST00000309534) - c.344A>G (Ensembl:ENST00000309534) - p.Asn115Ser (Ensembl:ENST00000482016) - c.344A>G (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
TCGA novel | 120 | K>S | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000003.12:g.88055617_88055618del Consequence type: frameshift Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055617_88055618del Locations: - c.359_360del (NCI-TCGA:ENST00000309534) - p.K120Sfs*2 (NCI-TCGA:ENST00000309534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV58852716 | 121 | A>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055615G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055615G>T Locations: - p.Ala121Asp (cosmic curated:ENST00000462901) - c.362C>A (cosmic curated:ENST00000462901) - p.Ala121Asp (cosmic curated:ENST00000482016) - c.362C>A (cosmic curated:ENST00000482016) - p.Ala121Asp (cosmic curated:ENST00000309534) - c.362C>A (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
COSV58851651 | 122 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000003.12:g.88055613C>T Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055613C>T Locations: - p.D122N (NCI-TCGA:ENST00000309534) - p.Asp122Asn (cosmic curated:ENST00000309534) - c.364G>A (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1706523866 | 124 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000003.12:g.88055606G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055606G>C Locations: - p.Pro124Arg (Ensembl:ENST00000309534) - c.371C>G (Ensembl:ENST00000309534) - p.Pro124Arg (Ensembl:ENST00000462901) - c.371C>G (Ensembl:ENST00000462901) - p.Pro124Arg (Ensembl:ENST00000482016) - c.371C>G (Ensembl:ENST00000482016) - p.Pro124Arg (Ensembl:ENST00000675130) - c.371C>G (Ensembl:ENST00000675130) - p.Pro124Arg (Ensembl:ENST00000398392) - c.371C>G (Ensembl:ENST00000398392) Source type: large scale study Cross-references: | |||||||
rs375999163 | 125 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000003.12:g.88055604C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055604C>T Locations: - p.Ala125Thr (Ensembl:ENST00000309534) - c.373G>A (Ensembl:ENST00000309534) - p.Ala125Thr (Ensembl:ENST00000462901) - c.373G>A (Ensembl:ENST00000462901) - p.Ala125Thr (Ensembl:ENST00000398392) - c.373G>A (Ensembl:ENST00000398392) - p.Ala125Thr (Ensembl:ENST00000482016) - c.373G>A (Ensembl:ENST00000482016) - p.Ala125Thr (Ensembl:ENST00000675130) - c.373G>A (Ensembl:ENST00000675130) Source type: large scale study | |||||||
rs781376365 | 126 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.88055600A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055600A>G Locations: - p.Val126Ala (Ensembl:ENST00000462901) - c.377T>C (Ensembl:ENST00000462901) - p.Val126Ala (Ensembl:ENST00000675130) - c.377T>C (Ensembl:ENST00000675130) - p.Val126Ala (Ensembl:ENST00000398392) - c.377T>C (Ensembl:ENST00000398392) - p.Val126Ala (Ensembl:ENST00000309534) - c.377T>C (Ensembl:ENST00000309534) - p.Val126Ala (Ensembl:ENST00000482016) - c.377T>C (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
rs2107558539 | 126 | V>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.88055601C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055601C>A Locations: - p.Val126Phe (Ensembl:ENST00000309534) - c.376G>T (Ensembl:ENST00000309534) - p.Val126Phe (Ensembl:ENST00000482016) - c.376G>T (Ensembl:ENST00000482016) - p.Val126Phe (Ensembl:ENST00000462901) - c.376G>T (Ensembl:ENST00000462901) - p.Val126Phe (Ensembl:ENST00000398392) - c.376G>T (Ensembl:ENST00000398392) - p.Val126Phe (Ensembl:ENST00000675130) - c.376G>T (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
COSV58853241 | 126 | V>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.851) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000003.12:g.88055600A>C Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055600A>C Locations: - p.V126G (NCI-TCGA:ENST00000309534) - p.Val126Gly (cosmic curated:ENST00000309534) - c.377T>G (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
COSV100532097 COSV100532097,COSV58853150 COSV58853150 | 127 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000003.12:g.88055598G>A Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055598G>A Locations: - p.R127C (NCI-TCGA:ENST00000309534) - p.Arg127Cys (cosmic curated:ENST00000309534) - c.379C>T (cosmic curated:ENST00000309534) Source type: large scale study | |||||||
COSV100532097 | 127 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055598G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055598G>T Locations: - p.Arg127Ser (cosmic curated:ENST00000309534) - c.379C>A (cosmic curated:ENST00000309534) - p.Arg127Ser (cosmic curated:ENST00000462901) - c.379C>A (cosmic curated:ENST00000462901) - p.Arg127Ser (cosmic curated:ENST00000482016) - c.379C>A (cosmic curated:ENST00000482016) Source type: large scale study Cross-references: | |||||||
rs1412633285 | 132 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.12) Somatic: No Population frequencies: - MAF: 0.000008035 (gnomAD) Accession: NC_000003.12:g.88055583G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055583G>A Locations: - p.R132C (NCI-TCGA:ENST00000398392) - p.R132C (NCI-TCGA:ENST00000482016) - p.R132C (NCI-TCGA:ENST00000309534) - p.R132C (NCI-TCGA:ENST00000462901) - p.R132C (NCI-TCGA:ENST00000675130) - p.Arg132Cys (Ensembl:ENST00000398392) - c.394C>T (Ensembl:ENST00000398392) - p.Arg132Cys (Ensembl:ENST00000309534) - c.394C>T (Ensembl:ENST00000309534) - p.Arg132Cys (Ensembl:ENST00000675130) - c.394C>T (Ensembl:ENST00000675130) - p.Arg132Cys (Ensembl:ENST00000482016) - c.394C>T (Ensembl:ENST00000482016) - p.Arg132Cys (Ensembl:ENST00000462901) - c.394C>T (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs371413877 | 132 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000003.12:g.88055582C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055582C>T Locations: - p.Arg132His (Ensembl:ENST00000675130) - c.395G>A (Ensembl:ENST00000675130) - p.Arg132His (Ensembl:ENST00000398392) - c.395G>A (Ensembl:ENST00000398392) - p.Arg132His (Ensembl:ENST00000462901) - c.395G>A (Ensembl:ENST00000462901) - p.Arg132His (Ensembl:ENST00000309534) - c.395G>A (Ensembl:ENST00000309534) - p.Arg132His (Ensembl:ENST00000482016) - c.395G>A (Ensembl:ENST00000482016) Source type: large scale study | |||||||
COSV58851912 rs371413877 | 132 | R>L | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000003.12:g.88055582C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055582C>A Locations: - p.Arg132Leu (Ensembl:ENST00000675130) - c.395G>T (Ensembl:ENST00000675130) - p.Arg132Leu (Ensembl:ENST00000398392) - c.395G>T (Ensembl:ENST00000398392) - p.Arg132Leu (Ensembl:ENST00000309534) - c.395G>T (Ensembl:ENST00000309534) - p.Arg132Leu (Ensembl:ENST00000482016) - c.395G>T (Ensembl:ENST00000482016) - p.Arg132Leu (Ensembl:ENST00000462901) - c.395G>T (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs757999456 | 138 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000003.12:g.88055565C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055565C>T Locations: - p.Gly138Ser (Ensembl:ENST00000675130) - c.412G>A (Ensembl:ENST00000675130) - p.Gly138Ser (Ensembl:ENST00000482016) - c.412G>A (Ensembl:ENST00000482016) - p.Gly138Ser (Ensembl:ENST00000398392) - c.412G>A (Ensembl:ENST00000398392) - p.Gly138Ser (Ensembl:ENST00000462901) - c.412G>A (Ensembl:ENST00000462901) - p.Gly138Ser (Ensembl:ENST00000309534) - c.412G>A (Ensembl:ENST00000309534) Source type: large scale study | |||||||
rs752139703 | 138 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000003.12:g.88055564C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055564C>A Locations: - p.Gly138Val (Ensembl:ENST00000398392) - c.413G>T (Ensembl:ENST00000398392) - p.Gly138Val (Ensembl:ENST00000482016) - c.413G>T (Ensembl:ENST00000482016) - p.Gly138Val (Ensembl:ENST00000309534) - c.413G>T (Ensembl:ENST00000309534) - p.Gly138Val (Ensembl:ENST00000675130) - c.413G>T (Ensembl:ENST00000675130) - p.Gly138Val (Ensembl:ENST00000462901) - c.413G>T (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
TCGA novel | 139 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.682) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000003.12:g.88055562A>T Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055562A>T Locations: - c.415T>A (NCI-TCGA:ENST00000309534) - p.S139T (NCI-TCGA:ENST00000309534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs765011889 | 142 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000003.12:g.88055553T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055553T>C Locations: - p.Lys142Glu (Ensembl:ENST00000462901) - c.424A>G (Ensembl:ENST00000462901) - p.Lys142Glu (Ensembl:ENST00000309534) - c.424A>G (Ensembl:ENST00000309534) - p.Lys142Glu (Ensembl:ENST00000675130) - c.424A>G (Ensembl:ENST00000675130) - p.Lys142Glu (Ensembl:ENST00000482016) - c.424A>G (Ensembl:ENST00000482016) - p.Lys142Glu (Ensembl:ENST00000398392) - c.424A>G (Ensembl:ENST00000398392) Source type: large scale study Cross-references: | |||||||
rs551414611 | 143 | S>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000003.12:g.88055550A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055550A>C Locations: - p.Ser143Ala (Ensembl:ENST00000309534) - c.427T>G (Ensembl:ENST00000309534) - p.Ser143Ala (Ensembl:ENST00000462901) - c.427T>G (Ensembl:ENST00000462901) - p.Ser143Ala (Ensembl:ENST00000675130) - c.427T>G (Ensembl:ENST00000675130) - p.Ser143Ala (Ensembl:ENST00000398392) - c.427T>G (Ensembl:ENST00000398392) - p.Ser143Ala (Ensembl:ENST00000482016) - c.427T>G (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
rs1706522138 | 144 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000003.12:g.88055546T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055546T>C Locations: - p.Asp144Gly (Ensembl:ENST00000309534) - c.431A>G (Ensembl:ENST00000309534) - p.Asp144Gly (Ensembl:ENST00000398392) - c.431A>G (Ensembl:ENST00000398392) - p.Asp144Gly (Ensembl:ENST00000482016) - c.431A>G (Ensembl:ENST00000482016) - p.Asp144Gly (Ensembl:ENST00000462901) - c.431A>G (Ensembl:ENST00000462901) - p.Asp144Gly (Ensembl:ENST00000675130) - c.431A>G (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs753716488 | 145 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000003.12:g.88055544G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055544G>C Locations: - p.Gln145Glu (Ensembl:ENST00000309534) - c.433C>G (Ensembl:ENST00000309534) - p.Gln145Glu (Ensembl:ENST00000398392) - c.433C>G (Ensembl:ENST00000398392) - p.Gln145Glu (Ensembl:ENST00000482016) - c.433C>G (Ensembl:ENST00000482016) - p.Gln145Glu (Ensembl:ENST00000462901) - c.433C>G (Ensembl:ENST00000462901) - p.Gln145Glu (Ensembl:ENST00000675130) - c.433C>G (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs1313148412 | 147 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000003.12:g.88055537C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055537C>T Locations: - p.Arg147Gln (Ensembl:ENST00000482016) - c.440G>A (Ensembl:ENST00000482016) - p.Arg147Gln (Ensembl:ENST00000398392) - c.440G>A (Ensembl:ENST00000398392) - p.Arg147Gln (Ensembl:ENST00000462901) - c.440G>A (Ensembl:ENST00000462901) - p.Arg147Gln (Ensembl:ENST00000675130) - c.440G>A (Ensembl:ENST00000675130) - p.Arg147Gln (Ensembl:ENST00000309534) - c.440G>A (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
COSV100532110 rs1287836989 | 147 | R>W | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000003.12:g.88055538G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055538G>A Locations: - p.Arg147Trp (Ensembl:ENST00000462901) - c.439C>T (Ensembl:ENST00000462901) - p.Arg147Trp (Ensembl:ENST00000482016) - c.439C>T (Ensembl:ENST00000482016) - p.Arg147Trp (Ensembl:ENST00000309534) - c.439C>T (Ensembl:ENST00000309534) - p.Arg147Trp (Ensembl:ENST00000398392) - c.439C>T (Ensembl:ENST00000398392) - p.Arg147Trp (Ensembl:ENST00000675130) - c.439C>T (Ensembl:ENST00000675130) Source type: large scale study | |||||||
rs773137250 | 148 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000003.12:g.88055534C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055534C>T Locations: - p.Arg148Lys (Ensembl:ENST00000398392) - c.443G>A (Ensembl:ENST00000398392) - p.Arg148Lys (Ensembl:ENST00000482016) - c.443G>A (Ensembl:ENST00000482016) - p.Arg148Lys (Ensembl:ENST00000309534) - c.443G>A (Ensembl:ENST00000309534) - p.Arg148Lys (Ensembl:ENST00000675130) - c.443G>A (Ensembl:ENST00000675130) - p.Arg148Lys (Ensembl:ENST00000462901) - c.443G>A (Ensembl:ENST00000462901) Source type: large scale study Cross-references: | |||||||
rs773137250 | 148 | R>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.88055534C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055534C>G Locations: - p.Arg148Thr (Ensembl:ENST00000398392) - c.443G>C (Ensembl:ENST00000398392) - p.Arg148Thr (Ensembl:ENST00000482016) - c.443G>C (Ensembl:ENST00000482016) - p.Arg148Thr (Ensembl:ENST00000309534) - c.443G>C (Ensembl:ENST00000309534) - p.Arg148Thr (Ensembl:ENST00000462901) - c.443G>C (Ensembl:ENST00000462901) - p.Arg148Thr (Ensembl:ENST00000675130) - c.443G>C (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
COSV58852572 | 151 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000003.12:g.88055526G>A Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055526G>A Locations: - p.L151F (NCI-TCGA:ENST00000309534) - p.Leu151Phe (cosmic curated:ENST00000309534) - c.451C>T (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
TCGA novel | 152 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000003.12:g.88055523G>T Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055523G>T Locations: - c.454C>A (NCI-TCGA:ENST00000309534) - p.P152T (NCI-TCGA:ENST00000309534) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100532045 | 153 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000003.12:g.88055520C>G Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055520C>G Locations: - p.D153H (NCI-TCGA:ENST00000309534) - p.Asp153His (cosmic curated:ENST00000309534) - c.457G>C (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
COSV100532045 | 153 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000003.12:g.88055520C>T Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055520C>T Locations: - c.457G>A (NCI-TCGA:ENST00000309534) - p.D153N (NCI-TCGA:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1403040860 COSV58851888 | 156 | E>D | TOPMed gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: Yes Accession: NC_000003.12:g.88055509C>G, NC_000003.12:g.88055509C>A Codon: GAG/GAC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055509C>G, NC_000003.12:g.88055509C>A Locations: - p.Glu156Asp (Ensembl:ENST00000398392) - c.468G>C (Ensembl:ENST00000398392) - p.Glu156Asp (Ensembl:ENST00000462901) - c.468G>C (Ensembl:ENST00000462901) - p.Glu156Asp (Ensembl:ENST00000675130) - c.468G>C (Ensembl:ENST00000675130) - p.Glu156Asp (Ensembl:ENST00000482016) - c.468G>C (Ensembl:ENST00000482016) - p.Glu156Asp (Ensembl:ENST00000309534) - c.468G>C (Ensembl:ENST00000309534) - p.Glu156Asp (cosmic curated:ENST00000309534) - c.468G>T (cosmic curated:ENST00000309534) - p.Glu156Asp (cosmic curated:ENST00000462901) - c.468G>T (cosmic curated:ENST00000462901) - p.Glu156Asp (cosmic curated:ENST00000482016) - c.468G>T (cosmic curated:ENST00000482016) Source type: large scale study | |||||||
rs1462733720 COSV100531845 | 158 | E>D | gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000003.12:g.88055503C>G, NC_000003.12:g.88055503C>A Codon: GAG/GAC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055503C>G, NC_000003.12:g.88055503C>A Locations: - p.Glu158Asp (Ensembl:ENST00000309534) - c.474G>C (Ensembl:ENST00000309534) - p.Glu158Asp (Ensembl:ENST00000398392) - c.474G>C (Ensembl:ENST00000398392) - p.Glu158Asp (Ensembl:ENST00000462901) - c.474G>C (Ensembl:ENST00000462901) - p.Glu158Asp (Ensembl:ENST00000482016) - c.474G>C (Ensembl:ENST00000482016) - p.Glu158Asp (Ensembl:ENST00000675130) - c.474G>C (Ensembl:ENST00000675130) - p.Glu158Asp (cosmic curated:ENST00000482016) - c.474G>T (cosmic curated:ENST00000482016) - p.Glu158Asp (cosmic curated:ENST00000309534) - c.474G>T (cosmic curated:ENST00000309534) - p.Glu158Asp (cosmic curated:ENST00000462901) - c.474G>T (cosmic curated:ENST00000462901) Source type: large scale study Cross-references: | |||||||
COSV58852967 | 161 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055496G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055496G>A Locations: - p.Leu161Phe (cosmic curated:ENST00000462901) - c.481C>T (cosmic curated:ENST00000462901) - p.Leu161Phe (cosmic curated:ENST00000482016) - c.481C>T (cosmic curated:ENST00000482016) - p.Leu161Phe (cosmic curated:ENST00000309534) - c.481C>T (cosmic curated:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1706520973 | 161 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.153) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000003.12:g.88055495A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055495A>C Locations: - p.Leu161Arg (Ensembl:ENST00000482016) - c.482T>G (Ensembl:ENST00000482016) - p.Leu161Arg (Ensembl:ENST00000398392) - c.482T>G (Ensembl:ENST00000398392) - p.Leu161Arg (Ensembl:ENST00000462901) - c.482T>G (Ensembl:ENST00000462901) - p.Leu161Arg (Ensembl:ENST00000309534) - c.482T>G (Ensembl:ENST00000309534) - p.Leu161Arg (Ensembl:ENST00000675130) - c.482T>G (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs763151271 | 162 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000003.12:g.88055493G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055493G>A Locations: - p.Leu162Phe (Ensembl:ENST00000462901) - c.484C>T (Ensembl:ENST00000462901) - p.Leu162Phe (Ensembl:ENST00000675130) - c.484C>T (Ensembl:ENST00000675130) - p.Leu162Phe (Ensembl:ENST00000398392) - c.484C>T (Ensembl:ENST00000398392) - p.Leu162Phe (Ensembl:ENST00000309534) - c.484C>T (Ensembl:ENST00000309534) - p.Leu162Phe (Ensembl:ENST00000482016) - c.484C>T (Ensembl:ENST00000482016) Source type: large scale study Cross-references: | |||||||
rs1397790146 | 162 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.88055492A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055492A>G Locations: - p.Leu162Pro (Ensembl:ENST00000398392) - c.485T>C (Ensembl:ENST00000398392) - p.Leu162Pro (Ensembl:ENST00000462901) - c.485T>C (Ensembl:ENST00000462901) - p.Leu162Pro (Ensembl:ENST00000482016) - c.485T>C (Ensembl:ENST00000482016) - p.Leu162Pro (Ensembl:ENST00000309534) - c.485T>C (Ensembl:ENST00000309534) - p.Leu162Pro (Ensembl:ENST00000675130) - c.485T>C (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
rs372685478 | 163 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000003.12:g.88055489T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055489T>C Locations: - p.Asn163Ser (Ensembl:ENST00000675130) - c.488A>G (Ensembl:ENST00000675130) - p.Asn163Ser (Ensembl:ENST00000398392) - c.488A>G (Ensembl:ENST00000398392) - p.Asn163Ser (Ensembl:ENST00000462901) - c.488A>G (Ensembl:ENST00000462901) - p.Asn163Ser (Ensembl:ENST00000482016) - c.488A>G (Ensembl:ENST00000482016) - p.Asn163Ser (Ensembl:ENST00000309534) - c.488A>G (Ensembl:ENST00000309534) Source type: large scale study | |||||||
rs1706520482 | 165 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.88055484G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055484G>A Locations: - p.Gln165Ter (Ensembl:ENST00000675130) - c.493C>T (Ensembl:ENST00000675130) - p.Gln165Ter (Ensembl:ENST00000462901) - c.493C>T (Ensembl:ENST00000462901) - p.Gln165Ter (Ensembl:ENST00000309534) - c.493C>T (Ensembl:ENST00000309534) - p.Gln165Ter (Ensembl:ENST00000482016) - c.493C>T (Ensembl:ENST00000482016) - p.Gln165Ter (Ensembl:ENST00000398392) - c.493C>T (Ensembl:ENST00000398392) Source type: large scale study Cross-references: | |||||||
rs1488425035 | 165 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000003.12:g.88055483T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055483T>A Locations: - p.Gln165Leu (Ensembl:ENST00000398392) - c.494A>T (Ensembl:ENST00000398392) - p.Gln165Leu (Ensembl:ENST00000482016) - c.494A>T (Ensembl:ENST00000482016) - p.Gln165Leu (Ensembl:ENST00000675130) - c.494A>T (Ensembl:ENST00000675130) - p.Gln165Leu (Ensembl:ENST00000462901) - c.494A>T (Ensembl:ENST00000462901) - p.Gln165Leu (Ensembl:ENST00000309534) - c.494A>T (Ensembl:ENST00000309534) Source type: large scale study Cross-references: | |||||||
rs1382379618 | 166 | D>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious (0) Somatic: No Accession: NC_000003.12:g.88055480T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 3p11.1 Genomic location: NC_000003.12:g.88055480T>A Locations: - p.Asp166Val (Ensembl:ENST00000462901) - c.497A>T (Ensembl:ENST00000462901) - p.Asp166Val (Ensembl:ENST00000398392) - c.497A>T (Ensembl:ENST00000398392) - p.Asp166Val (Ensembl:ENST00000482016) - c.497A>T (Ensembl:ENST00000482016) - p.Asp166Val (Ensembl:ENST00000309534) - c.497A>T (Ensembl:ENST00000309534) - p.Asp166Val (Ensembl:ENST00000675130) - c.497A>T (Ensembl:ENST00000675130) Source type: large scale study Cross-references: | |||||||
COSV58852483 | 167 | C>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000003.12:g.88055478A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000003.12:g.88055478A>G Locations: - p.Cys167Arg (cosmic curated:ENST00000482016) - c.499T>C (cosmic curated:ENST00000482016) - p.Cys167Arg (cosmic curated:ENST00000309534) - c.499T>C (cosmic curated:ENST00000309534) - p.Cys167Arg (cosmic curated:ENST00000462901) - c.499T>C (cosmic curated:ENST00000462901) Source type: large scale study Cross-references: |