J3KP90 · J3KP90_HUMAN
- ProteinCyclin-C
- GeneCCNC
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids282 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV100412619 rs1201923177 | 3 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.204) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.99568520C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99568520C>T Locations: - p.G3E (NCI-TCGA:ENST00000369220) - p.Gly3Glu (Ensembl:ENST00000369220) - c.8G>A (Ensembl:ENST00000369220) Source type: large scale study | |||||||
rs79162773 | 4 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.99568518T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99568518T>C Locations: - p.Asn4Asp (Ensembl:ENST00000369220) - c.10A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1769257784 | 4 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.486) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000006.12:g.99568517T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99568517T>C Locations: - p.Asn4Ser (Ensembl:ENST00000369220) - c.11A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV105220993 | 6 | W>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99568510C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99568510C>T Locations: - p.Trp6Ter (cosmic curated:ENST00000369220) - c.18G>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412608 | 8 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99568505C>T Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99568505C>T Locations: - p.S8N (NCI-TCGA:ENST00000369220) - p.Ser8Asn (cosmic curated:ENST00000369220) - c.23G>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs2114402362 | 12 | L>V | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000006.12:g.99562947A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562947A>C Locations: - p.Leu12Val (Ensembl:ENST00000369220) - c.34T>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1768915374 | 13 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.99562944G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562944G>A Locations: - p.Gln13Ter (Ensembl:ENST00000369220) - c.37C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1471940594 | 15 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000006.12:g.99562936A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562936A>C Locations: - p.Ile15Met (Ensembl:ENST00000369220) - c.45T>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs745828562 | 15 | I>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.557) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99562937A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562937A>C Locations: - p.Ile15Ser (Ensembl:ENST00000369220) - c.44T>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV105220986 | 15 | I>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99562938T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99562938T>C Locations: - p.Ile15Val (cosmic curated:ENST00000369220) - c.43A>G (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1251893221 | 19 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99562925T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562925T>C Locations: - p.Gln19Arg (Ensembl:ENST00000369220) - c.56A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs772424516 | 20 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000006.12:g.99562921A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562921A>C Locations: - p.Asp20Glu (Ensembl:ENST00000369220) - c.60T>G (Ensembl:ENST00000369220) Source type: large scale study | |||||||
COSV58334212 | 22 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99562915C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99562915C>G Locations: - p.Leu22Phe (cosmic curated:ENST00000369220) - c.66G>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1260195663 | 24 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.99562910T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562910T>C Locations: - p.Glu24Gly (Ensembl:ENST00000369220) - c.71A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1314175799 | 25 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.99562908G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562908G>A Locations: - p.Arg25Cys (Ensembl:ENST00000369220) - c.73C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334319 rs755107219 | 25 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.328) - SIFT: deleterious (0.04) Somatic: Yes Population frequencies: - MAF: 0.00001632 (gnomAD) Accession: NC_000006.12:g.99562907C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562907C>T Locations: - p.R25H (NCI-TCGA:ENST00000369220) - p.Arg25His (Ensembl:ENST00000369220) - c.74G>A (Ensembl:ENST00000369220) Source type: large scale study | |||||||
rs755107219 | 25 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.99562907C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562907C>G Locations: - p.Arg25Pro (Ensembl:ENST00000369220) - c.74G>C (Ensembl:ENST00000369220) Source type: large scale study | |||||||
COSV105220984 | 29 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99562896A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99562896A>T Locations: - p.Leu29Ile (cosmic curated:ENST00000369220) - c.85T>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334029 | 31 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99562890A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99562890A>G Locations: - p.Phe31Leu (cosmic curated:ENST00000369220) - c.91T>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334159 | 32 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99562887G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99562887G>C Locations: - p.Leu32Val (cosmic curated:ENST00000369220) - c.94C>G (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412603 COSV100412603,COSV58335002 COSV58335002 | 33 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99562883G>T Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562883G>T Locations: - p.S33* (NCI-TCGA:ENST00000369220) - p.Ser33Ter (cosmic curated:ENST00000369220) - c.98C>A (cosmic curated:ENST00000369220) Source type: large scale study | |||||||
COSV100412603 COSV100412603,COSV58335002 COSV58335002 | 33 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99562883G>A Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562883G>A Locations: - p.S33L (NCI-TCGA:ENST00000369220) - p.Ser33Leu (cosmic curated:ENST00000369220) - c.98C>T (cosmic curated:ENST00000369220) Source type: large scale study | |||||||
rs1290270634 | 33 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.99562884A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562884A>G Locations: - p.Ser33Pro (Ensembl:ENST00000369220) - c.97T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802841391 | 35 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.99562877T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562877T>C Locations: - p.Glu35Gly (Ensembl:ENST00000369220) - c.104A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs796471188 | 37 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.744) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99562871T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562871T>C Locations: - p.Tyr37Cys (Ensembl:ENST00000369220) - c.110A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1302071936 | 38 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000006.12:g.99562869A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562869A>G Locations: - p.Trp38Arg (Ensembl:ENST00000369220) - c.112T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1156589568 | 43 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99562853A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562853A>C Locations: - p.Phe43Cys (Ensembl:ENST00000369220) - c.128T>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs766105726 | 43 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.347) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.99562854A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562854A>G Locations: - p.Phe43Leu (Ensembl:ENST00000369220) - c.127T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs147364472 | 46 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.99562844T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99562844T>C Locations: - p.Asn46Ser (Ensembl:ENST00000369220) - c.137A>G (Ensembl:ENST00000369220) Source type: large scale study | |||||||
rs1208140816 | 47 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.563) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99561681A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561681A>G Locations: - p.Val47Ala (Ensembl:ENST00000369220) - c.140T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412625 | 47 | V>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99562842C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99562842C>A Locations: - p.Val47Phe (cosmic curated:ENST00000369220) - c.139G>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs764780094 | 48 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000006.12:g.99561677G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561677G>C Locations: - p.Ile48Met (Ensembl:ENST00000369220) - c.144C>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802787380 | 50 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000006.12:g.99561673C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561673C>T Locations: - p.Ala50Thr (Ensembl:ENST00000369220) - c.148G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802787202 | 53 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000006.12:g.99561663T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561663T>C Locations: - p.Glu53Gly (Ensembl:ENST00000369220) - c.158A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs756854853 | 54 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000006.12:g.99561661G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561661G>A Locations: - p.His54Tyr (Ensembl:ENST00000369220) - c.160C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs763638199 | 60 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.327) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99561643G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561643G>C Locations: - p.Gln60Glu (Ensembl:ENST00000369220) - c.178C>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs761299038 | 62 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.828) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.99561636A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561636A>G Locations: - p.Ile62Thr (Ensembl:ENST00000369220) - c.185T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs776112779 | 63 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.614) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99561634C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561634C>T Locations: - p.Ala63Thr (Ensembl:ENST00000369220) - c.187G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802785989 | 63 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.36) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99561633G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561633G>A Locations: - p.Ala63Val (Ensembl:ENST00000369220) - c.188C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58333685 rs756503282 | 66 | T>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000006.12:g.99561624G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561624G>A Locations: - p.Thr66Met (Ensembl:ENST00000369220) - c.197C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs771063204 | 67 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.99561622C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561622C>T Locations: - p.Val67Ile (Ensembl:ENST00000369220) - c.199G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802785205 | 68 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.99561617A>C Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561617A>C Locations: - p.Tyr68Ter (Ensembl:ENST00000369220) - c.204T>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334396 | 69 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99561614G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99561614G>T Locations: - p.Phe69Leu (cosmic curated:ENST00000369220) - c.207C>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1369197453 | 70 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.277) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99561613T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561613T>G Locations: - p.Lys70Gln (Ensembl:ENST00000369220) - c.208A>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334124 | 71 | R>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99561609C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99561609C>A Locations: - p.Arg71Ile (cosmic curated:ENST00000369220) - c.212G>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs749471346 | 72 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.99561607A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561607A>G Locations: - p.Phe72Leu (Ensembl:ENST00000369220) - c.214T>C (Ensembl:ENST00000369220) Source type: large scale study | |||||||
rs749471346 | 72 | F>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99561607A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561607A>C Locations: - p.Phe72Val (Ensembl:ENST00000369220) - c.214T>G (Ensembl:ENST00000369220) Source type: large scale study | |||||||
rs769823983 | 73 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.99561603T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561603T>C Locations: - p.Tyr73Cys (Ensembl:ENST00000369220) - c.218A>G (Ensembl:ENST00000369220) Source type: large scale study | |||||||
rs1197099039 | 74 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000006.12:g.99561601C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561601C>A Locations: - p.Ala74Ser (Ensembl:ENST00000369220) - c.220G>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334993 | 75 | R>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99561597C>A Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561597C>A Locations: - p.R75M (NCI-TCGA:ENST00000369220) - p.Arg75Met (cosmic curated:ENST00000369220) - c.224G>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs2114390526 | 76 | Y>F | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000006.12:g.99561434T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561434T>A Locations: - p.Tyr76Phe (Ensembl:ENST00000369220) - c.227A>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1394118423 | 79 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000006.12:g.99561425T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561425T>C Locations: - p.Lys79Arg (Ensembl:ENST00000369220) - c.236A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1201688903 | 80 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.99561422C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561422C>A Locations: - p.Ser80Ile (Ensembl:ENST00000369220) - c.239G>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1471688151 | 80-81 | SI>TI | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.99561420_99561421insGTAAAATTAATAAATGGT Codon: ATA/ACCATTTATTAATTTTACATA Consequence type: stop gained Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561420_99561421insGTAAAATTAATAAATGGT Locations: - p.Ser80_Ile81insThrIleTyrTer (Ensembl:ENST00000369220) - c.241_242insCCATTTATTAATTTTACA (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802774753 | 81 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99561419A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561419A>G Locations: - p.Ile81Thr (Ensembl:ENST00000369220) - c.242T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334668 | 83 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99561413G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99561413G>T Locations: - p.Pro83His (cosmic curated:ENST00000369220) - c.248C>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334691 | 84 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99561410A>G Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561410A>G Locations: - p.V84A (NCI-TCGA:ENST00000369220) - p.Val84Ala (cosmic curated:ENST00000369220) - c.251T>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV105220987 | 85 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99561408A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99561408A>T Locations: - p.Leu85Ile (cosmic curated:ENST00000369220) - c.253T>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1251149886 | 87 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.99561402C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561402C>A Locations: - p.Ala87Ser (Ensembl:ENST00000369220) - c.259G>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334167 rs1251149886 | 87 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000006.12:g.99561402C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561402C>T Locations: - p.A87T (NCI-TCGA:ENST00000369220) - p.Ala87Thr (Ensembl:ENST00000369220) - c.259G>A (Ensembl:ENST00000369220) Source type: large scale study | |||||||
rs1562494037 | 88 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99561399G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561399G>A Locations: - p.Pro88Ser (Ensembl:ENST00000369220) - c.262C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412539 | 90 | C>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99561393A>G Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561393A>G Locations: - p.C90R (NCI-TCGA:ENST00000369220) - p.Cys90Arg (cosmic curated:ENST00000369220) - c.268T>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334590 | 91 | V>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99561389A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99561389A>T Locations: - p.Val91Glu (cosmic curated:ENST00000369220) - c.272T>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs77717928 | 93 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.99561382C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99561382C>A Locations: - p.Leu93Phe (Ensembl:ENST00000369220) - c.279G>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58335102 | 93 | L>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99561383A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99561383A>C Locations: - p.Leu93Trp (cosmic curated:ENST00000369220) - c.278T>G (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs376395442 | 100 | F>S | ESP | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.99558544A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99558544A>G Locations: - p.Phe100Ser (Ensembl:ENST00000369220) - c.299T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334116 | 101 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99558542C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99558542C>T Locations: - p.Gly101Arg (cosmic curated:ENST00000369220) - c.301G>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334556 | 106 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99558526G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99558526G>A Locations: - p.Thr106Ile (cosmic curated:ENST00000369220) - c.317C>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58333623 | 107 | R>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99558524T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99558524T>A Locations: - p.Arg107Ter (cosmic curated:ENST00000369220) - c.319A>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV108155272 rs1353473261 | 108 | L>S | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.99558520A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99558520A>G Locations: - p.Leu108Ser (Ensembl:ENST00000369220) - c.323T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1562492796 | 109 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.538) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.99558517A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99558517A>G Locations: - p.Ile109Thr (Ensembl:ENST00000369220) - c.326T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs780791977 | 111 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.000004078 (gnomAD) Accession: NC_000006.12:g.99558511G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99558511G>A Locations: - p.A111V (NCI-TCGA:ENST00000369220) - p.Ala111Val (Ensembl:ENST00000369220) - c.332C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412714 | 112 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99558508G>T Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99558508G>T Locations: - p.A112D (NCI-TCGA:ENST00000369220) - p.Ala112Asp (cosmic curated:ENST00000369220) - c.335C>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412717 | 112 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99558509C>T Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99558509C>T Locations: - p.A112T (NCI-TCGA:ENST00000369220) - p.Ala112Thr (cosmic curated:ENST00000369220) - c.334G>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs941457310 | 113 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.239) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000006.12:g.99558505G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99558505G>T Locations: - p.Thr113Asn (Ensembl:ENST00000369220) - c.338C>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs766693480 | 115 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000006.12:g.99558499A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99558499A>G Locations: - p.Val115Ala (Ensembl:ENST00000369220) - c.344T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58333691 rs752067009 | 115 | V>I | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000006.12:g.99558500C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99558500C>T Locations: - p.Val115Ile (Ensembl:ENST00000369220) - c.343G>A (Ensembl:ENST00000369220) Source type: large scale study | |||||||
COSV58334325 | 120 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99551883A>C Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551883A>C Locations: - p.F120C (NCI-TCGA:ENST00000369220) - p.Phe120Cys (cosmic curated:ENST00000369220) - c.359T>G (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802314045 | 121 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000006.12:g.99551881A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551881A>C Locations: - p.Ser121Ala (Ensembl:ENST00000369220) - c.361T>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1180711158 | 125 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000006.12:g.99551868G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551868G>A Locations: - p.Pro125Leu (Ensembl:ENST00000369220) - c.374C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412528 rs1270401879 | 125 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.16) Somatic: Yes Population frequencies: - MAF: 0.000005608 (gnomAD) Accession: NC_000006.12:g.99551869G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551869G>A Locations: - p.P125S (NCI-TCGA:ENST00000369220) - p.Pro125Ser (Ensembl:ENST00000369220) - c.373C>T (Ensembl:ENST00000369220) Source type: large scale study | |||||||
COSV107361847 | 127 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99551863C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99551863C>G Locations: - p.Glu127Gln (cosmic curated:ENST00000369220) - c.379G>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1482997458 | 129 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000006.12:g.99551857G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551857G>A Locations: - p.Pro129Ser (Ensembl:ENST00000369220) - c.385C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1233851060 | 132 | M>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000006.12:g.99551848T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551848T>A Locations: - p.Met132Leu (Ensembl:ENST00000369220) - c.394A>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1045292995 | 132 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000006.12:g.99551847A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551847A>G Locations: - p.Met132Thr (Ensembl:ENST00000369220) - c.395T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334647 | 134 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99551842G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99551842G>A Locations: - p.His134Tyr (cosmic curated:ENST00000369220) - c.400C>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1562489259 | 135 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.154) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000006.12:g.99551028T>G Codon: ATA/CTA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551028T>G Locations: - p.Ile135Leu (Ensembl:ENST00000369220) - c.403A>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1462789406 | 136 | L>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.857) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.99551024A>G Codon: TTA/TCA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551024A>G Locations: - p.Leu136Ser (Ensembl:ENST00000369220) - c.407T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs910135708 | 137 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.99551020T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551020T>A Locations: - p.Glu137Asp (Ensembl:ENST00000369220) - c.411A>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802273954 | 138 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99551018C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551018C>T Locations: - p.Cys138Tyr (Ensembl:ENST00000369220) - c.413G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334062 | 140 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99551011G>T Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551011G>T Locations: - p.F140L (NCI-TCGA:ENST00000369220) - p.Phe140Leu (cosmic curated:ENST00000369220) - c.420C>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1023945530 | 141 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.377) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.99551009T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99551009T>C Locations: - p.Tyr141Cys (Ensembl:ENST00000369220) - c.422A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334575 | 145 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99550998G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99550998G>C Locations: - p.Leu145Val (cosmic curated:ENST00000369220) - c.433C>G (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334431 | 148 | C>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99550304A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99550304A>T Locations: - p.Cys148Ter (cosmic curated:ENST00000369220) - c.444T>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802236161 | 148 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99550305C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550305C>T Locations: - p.Cys148Tyr (Ensembl:ENST00000369220) - c.443G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412571 | 149 | C>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99550301G>T Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550301G>T Locations: - p.C149* (NCI-TCGA:ENST00000369220) - p.Cys149Ter (cosmic curated:ENST00000369220) - c.447C>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs771528577 | 152 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99550293A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550293A>G Locations: - p.Val152Ala (Ensembl:ENST00000369220) - c.455T>C (Ensembl:ENST00000369220) Source type: large scale study | |||||||
rs1802236032 | 152 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.409) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.99550294C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550294C>T Locations: - p.Val152Met (Ensembl:ENST00000369220) - c.454G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412587 | 153 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99550290T>C Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550290T>C Locations: - p.Y153C (NCI-TCGA:ENST00000369220) - p.Tyr153Cys (cosmic curated:ENST00000369220) - c.458A>G (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58335055 | 155 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99550285G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99550285G>A Locations: - p.Pro155Ser (cosmic curated:ENST00000369220) - c.463C>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334090 rs1362091998 | 156 | Y>C | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.99550281T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550281T>C Locations: - p.Tyr156Cys (Ensembl:ENST00000369220) - c.467A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs746412454 | 157 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99550278C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550278C>T Locations: - p.Arg157Lys (Ensembl:ENST00000369220) - c.470G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs926414039 | 158 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99550275G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550275G>A Locations: - p.Pro158Leu (Ensembl:ENST00000369220) - c.473C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs970158250 | 162 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.99550264A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550264A>G Locations: - p.Tyr162His (Ensembl:ENST00000369220) - c.484T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs779382674 | 163 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000006.12:g.99550261C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550261C>G Locations: - p.Val163Leu (Ensembl:ENST00000369220) - c.487G>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412664 | 164 | Q>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99550257T>G Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550257T>G Locations: - p.Q164P (NCI-TCGA:ENST00000369220) - p.Gln164Pro (cosmic curated:ENST00000369220) - c.491A>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs369260892 | 167 | G>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.143) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.99550248C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550248C>T Locations: - p.Gly167Asp (Ensembl:ENST00000369220) - c.500G>A (Ensembl:ENST00000369220) Source type: large scale study | |||||||
COSV105220990 | 169 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99550243C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99550243C>G Locations: - p.Glu169Gln (cosmic curated:ENST00000369220) - c.505G>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802234145 | 171 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000006.12:g.99550235C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550235C>T Locations: - p.Met171Ile (Ensembl:ENST00000369220) - c.513G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1263983869 | 171 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000006.12:g.99550236A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99550236A>G Locations: - p.Met171Thr (Ensembl:ENST00000369220) - c.512T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV107361959 | 177 | W>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99549572C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99549572C>G Locations: - p.Trp177Cys (cosmic curated:ENST00000369220) - c.531G>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1048560072 | 178 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.99549570A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549570A>G Locations: - p.Ile178Thr (Ensembl:ENST00000369220) - c.533T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1174052252 | 179 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.99549568C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549568C>T Locations: - p.Val179Met (Ensembl:ENST00000369220) - c.535G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334813 | 181 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99549562C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99549562C>T Locations: - p.Asp181Asn (cosmic curated:ENST00000369220) - c.541G>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1480190290 | 182 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.99549559T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549559T>C Locations: - p.Thr182Ala (Ensembl:ENST00000369220) - c.544A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs371333092 | 182 | T>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.99549558G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549558G>A Locations: - p.Thr182Ile (Ensembl:ENST00000369220) - c.545C>T (Ensembl:ENST00000369220) Source type: large scale study | |||||||
rs948885477 | 183 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99549555T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549555T>C Locations: - p.Tyr183Cys (Ensembl:ENST00000369220) - c.548A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58333922 | 184 | R>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99549553T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99549553T>C Locations: - p.Arg184Gly (cosmic curated:ENST00000369220) - c.550A>G (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs940563658 | 185 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.74) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.99549549G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549549G>A Locations: - p.Thr185Met (Ensembl:ENST00000369220) - c.554C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334803 | 186 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99549547C>G Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549547C>G Locations: - p.D186H (NCI-TCGA:ENST00000369220) - p.Asp186His (cosmic curated:ENST00000369220) - c.556G>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1221793267 | 187 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.27) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99549544G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549544G>A Locations: - p.Leu187Phe (Ensembl:ENST00000369220) - c.559C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58333941 | 187 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99549544G>T Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549544G>T Locations: - p.L187I (NCI-TCGA:ENST00000369220) - p.Leu187Ile (cosmic curated:ENST00000369220) - c.559C>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1194951623 | 189 | L>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.99549538G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549538G>T Locations: - p.Leu189Ile (Ensembl:ENST00000369220) - c.565C>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334071 | 193 | P>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99549526G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99549526G>C Locations: - p.Pro193Ala (cosmic curated:ENST00000369220) - c.577C>G (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1470337889 | 194 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.99549522A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549522A>G Locations: - p.Phe194Ser (Ensembl:ENST00000369220) - c.581T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412740 | 195 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99549518C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99549518C>A Locations: - p.Met195Ile (cosmic curated:ENST00000369220) - c.585G>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1159479551 | 196 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.99549516A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549516A>G Locations: - p.Ile196Thr (Ensembl:ENST00000369220) - c.587T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334848 | 197 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99549513G>A Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99549513G>A Locations: - p.A197V (NCI-TCGA:ENST00000369220) - p.Ala197Val (cosmic curated:ENST00000369220) - c.590C>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1264065358 | 199 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000006.12:g.99546474G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546474G>C Locations: - p.Ala199Gly (Ensembl:ENST00000369220) - c.596C>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334281 | 201 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99546468A>G Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546468A>G Locations: - p.L201P (NCI-TCGA:ENST00000369220) - p.Leu201Pro (cosmic curated:ENST00000369220) - c.602T>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802074119 | 202 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000006.12:g.99546465T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546465T>C Locations: - p.His202Arg (Ensembl:ENST00000369220) - c.605A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs781634701 | 204 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.458) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99546460C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546460C>T Locations: - p.Ala204Thr (Ensembl:ENST00000369220) - c.610G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1478905490 | 205 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.99546457A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546457A>G Locations: - p.Cys205Arg (Ensembl:ENST00000369220) - c.613T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334265 | 208 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99546448G>A Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546448G>A Locations: - p.Q208* (NCI-TCGA:ENST00000369220) - p.Gln208Ter (cosmic curated:ENST00000369220) - c.622C>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58333970 | 209 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99546445G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99546445G>A Locations: - p.Gln209Ter (cosmic curated:ENST00000369220) - c.625C>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1433139486 | 210 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.346) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.99546440T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546440T>G Locations: - p.Lys210Asn (Ensembl:ENST00000369220) - c.630A>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs61753659 | 210 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000006.12:g.99546441T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546441T>C Locations: - p.Lys210Arg (Ensembl:ENST00000369220) - c.629A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58333957 | 211 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99546439C>G Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546439C>G Locations: - p.D211H (NCI-TCGA:ENST00000369220) - p.Asp211His (cosmic curated:ENST00000369220) - c.631G>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334413 rs1802073023 | 212 | A>T | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.24) Somatic: Yes Accession: NC_000006.12:g.99546436C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546436C>T Locations: - p.Ala212Thr (Ensembl:ENST00000369220) - c.634G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802072341 | 222 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.378) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.99546405T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546405T>C Locations: - p.Asp222Gly (Ensembl:ENST00000369220) - c.665A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs747179991 | 223 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.386) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000006.12:g.99546403T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546403T>C Locations: - p.Met223Val (Ensembl:ENST00000369220) - c.667A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802071619 | 225 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99546396T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99546396T>G Locations: - p.Lys225Thr (Ensembl:ENST00000369220) - c.674A>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412634 | 230 | I>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99545217A>C Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545217A>C Locations: - p.I230S (NCI-TCGA:ENST00000369220) - p.Ile230Ser (cosmic curated:ENST00000369220) - c.689T>G (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802024175 | 230 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: tolerated (0.9) Somatic: No Accession: NC_000006.12:g.99545217A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545217A>G Locations: - p.Ile230Thr (Ensembl:ENST00000369220) - c.689T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58333806 | 230 | I>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99545218T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99545218T>C Locations: - p.Ile230Val (cosmic curated:ENST00000369220) - c.688A>G (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1165185165 | 232 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000006.12:g.99545212C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545212C>A Locations: - p.Val232Phe (Ensembl:ENST00000369220) - c.694G>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1165185165 | 232 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000006.12:g.99545212C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545212C>T Locations: - p.Val232Ile (Ensembl:ENST00000369220) - c.694G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs777157075 | 233 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.99545209T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545209T>C Locations: - p.Ile233Val (Ensembl:ENST00000369220) - c.697A>G (Ensembl:ENST00000369220) Source type: large scale study | |||||||
COSV104637876 rs1802023607 | 238 | E>K | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000006.12:g.99545194C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545194C>T Locations: - p.Glu238Lys (Ensembl:ENST00000369220) - c.712G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334965 | 238 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99545194C>G Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545194C>G Locations: - p.E238Q (NCI-TCGA:ENST00000369220) - p.Glu238Gln (cosmic curated:ENST00000369220) - c.712G>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58333664 | 239 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99545189C>G Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545189C>G Locations: - p.Q239H (NCI-TCGA:ENST00000369220) - p.Gln239His (cosmic curated:ENST00000369220) - c.717G>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1168128649 | 240 | W>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000006.12:g.99545187C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545187C>A Locations: - p.Trp240Leu (Ensembl:ENST00000369220) - c.719G>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334240 rs747673155 | 242 | N>D | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000006.12:g.99545182T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545182T>C Locations: - p.Asn242Asp (Ensembl:ENST00000369220) - c.724A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs374888747 | 244 | D>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000006.12:g.99545174A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545174A>C Locations: - p.Asp244Glu (Ensembl:ENST00000369220) - c.732T>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs745941649 | 244 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.99545176C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545176C>T Locations: - p.Asp244Asn (Ensembl:ENST00000369220) - c.730G>A (Ensembl:ENST00000369220) Source type: large scale study | |||||||
rs745941649 | 244 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99545176C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545176C>A Locations: - p.Asp244Tyr (Ensembl:ENST00000369220) - c.730G>T (Ensembl:ENST00000369220) Source type: large scale study | |||||||
COSV105885597 | 247 | K>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99545166T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99545166T>G Locations: - p.Lys247Thr (cosmic curated:ENST00000369220) - c.740A>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802022413 | 249 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.99545159C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545159C>T Locations: - p.Met249Ile (Ensembl:ENST00000369220) - c.747G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412554 | 250 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99545158C>T Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545158C>T Locations: - p.A250T (NCI-TCGA:ENST00000369220) - p.Ala250Thr (cosmic curated:ENST00000369220) - c.748G>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV105885594 | 250 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99545157G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99545157G>A Locations: - p.Ala250Val (cosmic curated:ENST00000369220) - c.749C>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1202801256 | 251 | T>A | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.99545155T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545155T>C Locations: - p.Thr251Ala (Ensembl:ENST00000369220) - c.751A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1319094771 | 251 | T>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000006.12:g.99545154G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545154G>T Locations: - p.Thr251Asn (Ensembl:ENST00000369220) - c.752C>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs781010184 | 252 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.99545150A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545150A>C Locations: - p.Ile252Met (Ensembl:ENST00000369220) - c.756T>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs748037864 | 252 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.557) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99545151A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545151A>G Locations: - p.Ile252Thr (Ensembl:ENST00000369220) - c.755T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1208527532 | 255 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.342) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000006.12:g.99545142T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545142T>C Locations: - p.Lys255Arg (Ensembl:ENST00000369220) - c.764A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334383 | 256 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99545138C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99545138C>T Locations: - p.Met256Ile (cosmic curated:ENST00000369220) - c.768G>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1257397839 | 256 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99545139A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545139A>G Locations: - p.Met256Thr (Ensembl:ENST00000369220) - c.767T>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs2128866774 | 257 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.99545137G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545137G>C Locations: - p.Pro257Ala (Ensembl:ENST00000369220) - c.769C>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs781390814 | 259 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.291) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.99545131G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545131G>A Locations: - p.Pro259Ser (Ensembl:ENST00000369220) - c.775C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1222846498 | 261 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000006.12:g.99545125G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545125G>A Locations: - p.Pro261Ser (Ensembl:ENST00000369220) - c.781C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1316505751 | 262 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.99545121G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545121G>A Locations: - p.Pro262Leu (Ensembl:ENST00000369220) - c.785C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58333641 | 263 | P>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99545119G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99545119G>C Locations: - p.Pro263Ala (cosmic curated:ENST00000369220) - c.787C>G (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334292 | 263 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99545118G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99545118G>T Locations: - p.Pro263Gln (cosmic curated:ENST00000369220) - c.788C>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1802021203 | 263 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.99545119G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545119G>A Locations: - p.Pro263Ser (Ensembl:ENST00000369220) - c.787C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1346004412 | 264 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.99545116T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545116T>C Locations: - p.Asn264Asp (Ensembl:ENST00000369220) - c.790A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1346004412 | 264 | N>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.243) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000006.12:g.99545116T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99545116T>G Locations: - p.Asn264His (Ensembl:ENST00000369220) - c.790A>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58334286 | 264 | N>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99545114G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99545114G>T Locations: - p.Asn264Lys (cosmic curated:ENST00000369220) - c.792C>A (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV58335011 | 267 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99543605C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99543605C>A Locations: - p.Gly267Ter (cosmic curated:ENST00000369220) - c.799G>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs779837777 | 269 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000006.12:g.99543599G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543599G>C Locations: - p.Gln269Glu (Ensembl:ENST00000369220) - c.805C>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1801956385 | 270 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000006.12:g.99543595C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543595C>A Locations: - p.Gly270Val (Ensembl:ENST00000369220) - c.809G>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1801956236 | 271 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000006.12:g.99543593G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543593G>A Locations: - p.Pro271Ser (Ensembl:ENST00000369220) - c.811C>T (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs750048355 | 272 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000006.12:g.99543590T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543590T>C Locations: - p.Asn272Asp (Ensembl:ENST00000369220) - c.814A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1801955931 | 272 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.99543588A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543588A>C Locations: - p.Asn272Lys (Ensembl:ENST00000369220) - c.816T>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412532 | 273 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99543587C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99543587C>A Locations: - p.Gly273Ter (cosmic curated:ENST00000369220) - c.817G>T (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1353652632 | 274 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000006.12:g.99543583C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543583C>G Locations: - p.Ser274Thr (Ensembl:ENST00000369220) - c.821G>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412502 | 277 | S>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99543575-99543576AG> Consequence type: missense Cytogenetic band: Genomic location: NC_000006.12:g.99543575-99543576AG> Locations: - p.Ser277Ter (cosmic curated:ENST00000369220) - c.830_831del (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1266323637 | 278 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.393) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000006.12:g.99543571C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543571C>T Locations: - p.Ser278Asn (Ensembl:ENST00000369220) - c.833G>A (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1266323637 | 278 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000006.12:g.99543571C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543571C>G Locations: - p.Ser278Thr (Ensembl:ENST00000369220) - c.833G>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1801955052 | 279 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000006.12:g.99543568T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543568T>C Locations: - p.Tyr279Cys (Ensembl:ENST00000369220) - c.836A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1380766885 | 280 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000006.12:g.99543566T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543566T>C Locations: - p.Ser280Gly (Ensembl:ENST00000369220) - c.838A>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs1358174702 | 280 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000006.12:g.99543565C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543565C>G Locations: - p.Ser280Thr (Ensembl:ENST00000369220) - c.839G>C (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs2128865315 | 281 | Q>E | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.99543563G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543563G>C Locations: - p.Gln281Glu (Ensembl:ENST00000369220) - c.841C>G (Ensembl:ENST00000369220) Source type: large scale study Cross-references: | |||||||
COSV100412720 | 281 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000006.12:g.99543561T>G Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543561T>G Locations: - p.Q281H (NCI-TCGA:ENST00000369220) - p.Gln281His (cosmic curated:ENST00000369220) - c.843A>C (cosmic curated:ENST00000369220) Source type: large scale study Cross-references: | |||||||
rs754453163 | 282 | S>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.99543560A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 6q16.2 Genomic location: NC_000006.12:g.99543560A>G Locations: - p.Ser282Pro (Ensembl:ENST00000369220) - c.844T>C (Ensembl:ENST00000369220) Source type: large scale study |