P01562 · IFNA1_HUMAN
- ProteinInterferon alpha-1/13
- GeneIFNA1; IFNA13
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids189 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs777711363 | 2 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440512C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440512C>A Locations: - p.Ala2Asp (Ensembl:ENST00000276927) - c.5C>A (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs777711363 | 2 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440512C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440512C>T Locations: - p.Ala2Val (Ensembl:ENST00000276927) - c.5C>T (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs368175141 | 3 | S>L | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440515C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440515C>T Locations: - p.Ser3Leu (Ensembl:ENST00000276927) - c.8C>T (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs371365536 | 4 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000009.12:g.21440518C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440518C>T Locations: - p.Pro4Leu (Ensembl:ENST00000276927) - c.11C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818358901 | 4 | P>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000009.12:g.21440517C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440517C>T Locations: - p.Pro4Ser (Ensembl:ENST00000276927) - c.10C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs769348542 | 5 | F>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000009.12:g.21440520T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440520T>G Locations: - p.Phe5Val (Ensembl:ENST00000276927) - c.13T>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs775164820 | 8 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440530T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440530T>G Locations: - p.Leu8Arg (Ensembl:ENST00000276927) - c.23T>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs139957144 | 9 | M>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.21440534G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440534G>A Locations: - p.Met9Ile (Ensembl:ENST00000276927) - c.27G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1299636544 | 9 | M>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000009.12:g.21440532A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440532A>C Locations: - p.Met9Leu (Ensembl:ENST00000276927) - c.25A>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
VAR_024508 RCV000950424 rs1758567 | 10 | V>A | Benign (Ensembl, ClinVar) | UniProt ClinVar 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.04718 (ClinVar) Accession: NC_000009.12:g.21440536T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440536T>C Locations: - p.Val10Ala (UniProt:P01562) Source type: mixed Cross-references: | |||||||
rs1818359277 | 12 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000009.12:g.21440541G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440541G>C Locations: - p.Val12Leu (Ensembl:ENST00000276927) - c.34G>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818359308 | 13 | V>M | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000009.12:g.21440544G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440544G>A Locations: - p.Val13Met (Ensembl:ENST00000276927) - c.37G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1384039953 | 15 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.21440551G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440551G>A Locations: - p.Ser15Asn (Ensembl:ENST00000276927) - c.44G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1291194173 | 16 | C>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.21440555C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440555C>A Locations: - p.Cys16Ter (Ensembl:ENST00000276927) - c.48C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs766623046 | 16 | C>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000009.12:g.21440553T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440553T>G Locations: - p.Cys16Gly (Ensembl:ENST00000276927) - c.46T>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1818359593 | 18 | S>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.21440560C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440560C>T Locations: - p.Ser18Leu (Ensembl:ENST00000276927) - c.53C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs753978720 | 18 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000009.12:g.21440559T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440559T>C Locations: - p.Ser18Pro (Ensembl:ENST00000276927) - c.52T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1192106363 | 19 | S>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.82) Somatic: No Accession: NC_000009.12:g.21440563G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440563G>T Locations: - p.Ser19Ile (Ensembl:ENST00000276927) - c.56G>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1192106363 | 19 | S>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000009.12:g.21440563G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440563G>A Locations: - p.Ser19Asn (Ensembl:ENST00000276927) - c.56G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1445241381 | 20 | C>W | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440567C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440567C>G Locations: - p.Cys20Trp (Ensembl:ENST00000276927) - c.60C>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs759593798 | 22 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440571C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440571C>G Locations: - p.Leu22Val (Ensembl:ENST00000276927) - c.64C>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs148836775 | 23 | G>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.21440575G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440575G>A Locations: - p.Gly23Asp (Ensembl:ENST00000276927) - c.68G>A (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs375932242 | 25 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious (0.03) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000003986 (gnomAD) Accession: NC_000009.12:g.21440581A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440581A>G Locations: - p.D25G (NCI-TCGA:ENST00000276927) - p.Asp25Gly (Ensembl:ENST00000276927) - c.74A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818359783 | 25 | D>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.21440580G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440580G>A Locations: - p.Asp25Asn (Ensembl:ENST00000276927) - c.73G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV99439815 | 26 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.21440583C>T Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440583C>T Locations: - c.76C>T (NCI-TCGA:ENST00000276927) - p.L26F (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs529771499 | 27 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000009.12:g.21440587C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440587C>T Locations: - p.Pro27Leu (Ensembl:ENST00000276927) - c.80C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs757177156 | 30 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440596A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440596A>G Locations: - p.His30Arg (Ensembl:ENST00000276927) - c.89A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818360007 | 31 | S>I | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000009.12:g.21440599G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440599G>T Locations: - p.Ser31Ile (Ensembl:ENST00000276927) - c.92G>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV52806435 | 31 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.59) Somatic: Yes Accession: NC_000009.12:g.21440599G>A Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440599G>A Locations: - c.92G>A (NCI-TCGA:ENST00000276927) - p.S31N (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV52806812 | 32 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000009.12:g.21440601C>A Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440601C>A Locations: - c.94C>A (NCI-TCGA:ENST00000276927) - p.L32M (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1393640446 | 33 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440606T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440606T>A Locations: - p.Asp33Glu (Ensembl:ENST00000276927) - c.99T>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1162910378 | 34 | N>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000009.12:g.21440608A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440608A>G Locations: - p.Asn34Ser (Ensembl:ENST00000276927) - c.101A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs745379720 | 36 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000009.12:g.21440614G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440614G>A Locations: - p.Arg36Lys (Ensembl:ENST00000276927) - c.107G>A (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1818360304 | 37 | T>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440616A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440616A>G Locations: - p.Thr37Ala (Ensembl:ENST00000276927) - c.109A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818360397 | 39 | M>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000009.12:g.21440624G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440624G>A Locations: - p.Met39Ile (Ensembl:ENST00000276927) - c.117G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818360361 | 39 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.71) Somatic: No Accession: NC_000009.12:g.21440622A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440622A>G Locations: - p.Met39Val (Ensembl:ENST00000276927) - c.115A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs755614242 | 40 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000009.12:g.21440625C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440625C>T Locations: - p.Leu40Phe (Ensembl:ENST00000276927) - c.118C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs755614242 | 40 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000009.12:g.21440625C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440625C>G Locations: - p.Leu40Val (Ensembl:ENST00000276927) - c.118C>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs144037511 | 41 | L>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440629T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440629T>A Locations: - p.Leu41Gln (Ensembl:ENST00000276927) - c.122T>A (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1818360564 | 43 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000009.12:g.21440634C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440634C>A Locations: - p.Gln43Lys (Ensembl:ENST00000276927) - c.127C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818360677 | 44 | M>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440639G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440639G>T Locations: - p.Met44Ile (Ensembl:ENST00000276927) - c.132G>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1212309223 | 44 | M>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440638T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440638T>C Locations: - p.Met44Thr (Ensembl:ENST00000276927) - c.131T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs748950872 | 44 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440637A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440637A>G Locations: - p.Met44Val (Ensembl:ENST00000276927) - c.130A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1270613031 | 45 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440641G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440641G>A Locations: - p.Ser45Asn (Ensembl:ENST00000276927) - c.134G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
TCGA novel | 46 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000009.12:g.21440644G>C Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440644G>C Locations: - c.137G>C (NCI-TCGA:ENST00000276927) - p.R46T (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1178868714 | 51 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000009.12:g.21440659C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440659C>T Locations: - p.Ser51Phe (Ensembl:ENST00000276927) - c.152C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1263722600 | 52 | C>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440662G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440662G>C Locations: - p.Cys52Ser (Ensembl:ENST00000276927) - c.155G>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1263722600 | 52 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440662G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440662G>A Locations: - p.Cys52Tyr (Ensembl:ENST00000276927) - c.155G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV99440043 | 54 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.21440669G>A Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440669G>A Locations: - c.162G>A (NCI-TCGA:ENST00000276927) - p.M54I (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818360847 | 54 | M>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440668T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440668T>C Locations: - p.Met54Thr (Ensembl:ENST00000276927) - c.161T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818360873 | 55 | D>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440671A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440671A>G Locations: - p.Asp55Gly (Ensembl:ENST00000276927) - c.164A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs773708922 | 57 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000009.12:g.21440677A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440677A>G Locations: - p.His57Arg (Ensembl:ENST00000276927) - c.170A>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs376864266 | 57 | H>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000009.12:g.21440676C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440676C>T Locations: - p.His57Tyr (Ensembl:ENST00000276927) - c.169C>T (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1586975947 | 58 | D>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440681C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440681C>A Locations: - p.Asp58Glu (Ensembl:ENST00000276927) - c.174C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818360999 | 58 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440679G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440679G>C Locations: - p.Asp58His (Ensembl:ENST00000276927) - c.172G>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818360999 | 58 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.21440679G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440679G>A Locations: - p.Asp58Asn (Ensembl:ENST00000276927) - c.172G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
TCGA novel | 58 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440680A>T Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440680A>T Locations: - c.173A>T (NCI-TCGA:ENST00000276927) - p.D58V (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99439845 | 58 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000009.12:g.21440679G>T Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440679G>T Locations: - c.172G>T (NCI-TCGA:ENST00000276927) - p.D58Y (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV99439907 | 60 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.28) Somatic: Yes Accession: NC_000009.12:g.21440686G>A Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440686G>A Locations: - c.179G>A (NCI-TCGA:ENST00000276927) - p.G60E (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs771579368 | 62 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440692C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440692C>A Locations: - p.Pro62His (Ensembl:ENST00000276927) - c.185C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1586975952 | 63 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.21440694C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440694C>T Locations: - p.Gln63Ter (Ensembl:ENST00000276927) - c.187C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs900333744 | 63 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000009.12:g.21440695A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440695A>G Locations: - p.Gln63Arg (Ensembl:ENST00000276927) - c.188A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818361293 | 64 | E>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.21440698A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440698A>G Locations: - p.Glu64Gly (Ensembl:ENST00000276927) - c.191A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1393622441 | 64 | E>K | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000009.12:g.21440697G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440697G>A Locations: - p.Glu64Lys (Ensembl:ENST00000276927) - c.190G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs759565724 | 65 | E>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000009.12:g.21440701A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440701A>T Locations: - p.Glu65Val (Ensembl:ENST00000276927) - c.194A>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs765328637 | 66 | F>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440704T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440704T>C Locations: - p.Phe66Ser (Ensembl:ENST00000276927) - c.197T>C (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs369076042 | 67 | D>Y | ESP TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440706G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440706G>T Locations: - p.Asp67Tyr (Ensembl:ENST00000276927) - c.199G>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV99439935 | 69 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.8) Somatic: Yes Accession: NC_000009.12:g.21440714C>G Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440714C>G Locations: - c.207C>G (NCI-TCGA:ENST00000276927) - p.N69K (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs763940533 | 70 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440715C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440715C>G Locations: - p.Gln70Glu (Ensembl:ENST00000276927) - c.208C>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1156458285 | 70 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000009.12:g.21440717G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440717G>C Locations: - p.Gln70His (Ensembl:ENST00000276927) - c.210G>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs751357005 | 70 | Q>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440716A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440716A>T Locations: - p.Gln70Leu (Ensembl:ENST00000276927) - c.209A>T (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs751357005 | 70 | Q>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440716A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440716A>C Locations: - p.Gln70Pro (Ensembl:ENST00000276927) - c.209A>C (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1352978099 | 71 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440718T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440718T>C Locations: - p.Phe71Leu (Ensembl:ENST00000276927) - c.211T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs756984992 | 73 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440725A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440725A>G Locations: - p.Lys73Arg (Ensembl:ENST00000276927) - c.218A>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1818361795 | 74 | A>P | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440727G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440727G>C Locations: - p.Ala74Pro (Ensembl:ENST00000276927) - c.220G>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818361795 | 74 | A>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000009.12:g.21440727G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440727G>A Locations: - p.Ala74Thr (Ensembl:ENST00000276927) - c.220G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs750346976 | 75 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440730C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440730C>G Locations: - p.Pro75Ala (Ensembl:ENST00000276927) - c.223C>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs202105745 | 75 | P>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440731C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440731C>T Locations: - p.Pro75Leu (Ensembl:ENST00000276927) - c.224C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs202105745 | 75 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440731C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440731C>A Locations: - p.Pro75Gln (Ensembl:ENST00000276927) - c.224C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs750346976 | 75 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440730C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440730C>T Locations: - p.Pro75Ser (Ensembl:ENST00000276927) - c.223C>T (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1430527816 | 76 | A>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440734C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440734C>G Locations: - p.Ala76Gly (Ensembl:ENST00000276927) - c.227C>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs946534590 | 76 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.21440733G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440733G>A Locations: - p.Ala76Thr (Ensembl:ENST00000276927) - c.226G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1430527816 | 76 | A>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.21440734C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440734C>T Locations: - p.Ala76Val (Ensembl:ENST00000276927) - c.227C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV99439895 | 77 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.341) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000009.12:g.21440737T>C Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440737T>C Locations: - c.230T>C (NCI-TCGA:ENST00000276927) - p.I77T (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818362013 | 77 | I>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000009.12:g.21440736A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440736A>G Locations: - p.Ile77Val (Ensembl:ENST00000276927) - c.229A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1259382042 | 78 | S>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000009.12:g.21440739T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440739T>C Locations: - p.Ser78Pro (Ensembl:ENST00000276927) - c.232T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
TCGA novel | 79 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440743T>C Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440743T>C Locations: - c.236T>C (NCI-TCGA:ENST00000276927) - p.V79A (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs748962202 | 80 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.21440745C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440745C>T Locations: - p.Leu80Phe (Ensembl:ENST00000276927) - c.238C>T (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1271401320 | 81 | H>R | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.21440749A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440749A>G Locations: - p.His81Arg (Ensembl:ENST00000276927) - c.242A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818362362 | 83 | L>M | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440754C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440754C>A Locations: - p.Leu83Met (Ensembl:ENST00000276927) - c.247C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs902403642 | 85 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.21440760C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440760C>T Locations: - p.Gln85Ter (Ensembl:ENST00000276927) - c.253C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs902403642 | 85 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440760C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440760C>G Locations: - p.Gln85Glu (Ensembl:ENST00000276927) - c.253C>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818362463 | 86 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000009.12:g.21440765G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440765G>C Locations: - p.Gln86His (Ensembl:ENST00000276927) - c.258G>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs747400893 | 87 | I>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440767T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440767T>A Locations: - p.Ile87Asn (Ensembl:ENST00000276927) - c.260T>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs747400893 | 87 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.96) Somatic: No Accession: NC_000009.12:g.21440767T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440767T>C Locations: - p.Ile87Thr (Ensembl:ENST00000276927) - c.260T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818362576 | 90 | L>F | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440775C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440775C>T Locations: - p.Leu90Phe (Ensembl:ENST00000276927) - c.268C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1241835325 | 91 | F>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440778T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440778T>A Locations: - p.Phe91Ile (Ensembl:ENST00000276927) - c.271T>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs777044003 | 92 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000009.12:g.21440782C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440782C>T Locations: - p.Thr92Ile (Ensembl:ENST00000276927) - c.275C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV99439898 | 92 | T>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.28) Somatic: Yes Accession: NC_000009.12:g.21440782C>A Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440782C>A Locations: - c.275C>A (NCI-TCGA:ENST00000276927) - p.T92N (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs746362973 | 93 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.21440784A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440784A>G Locations: - p.Thr93Ala (Ensembl:ENST00000276927) - c.277A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs374654182 | 94 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440787A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440787A>G Locations: - p.Lys94Glu (Ensembl:ENST00000276927) - c.280A>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs374654182 | 94 | K>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000009.12:g.21440787A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440787A>C Locations: - p.Lys94Gln (Ensembl:ENST00000276927) - c.280A>C (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1818362778 | 96 | S>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.21440794C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440794C>T Locations: - p.Ser96Leu (Ensembl:ENST00000276927) - c.287C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs775633472 | 96 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440793T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440793T>C Locations: - p.Ser96Pro (Ensembl:ENST00000276927) - c.286T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1411113922 | 97 | S>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000009.12:g.21440796T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440796T>C Locations: - p.Ser97Pro (Ensembl:ENST00000276927) - c.289T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1296019231 | 98 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440799G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440799G>C Locations: - p.Ala98Pro (Ensembl:ENST00000276927) - c.292G>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818362909 | 99 | A>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.21440803C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440803C>T Locations: - p.Ala99Val (Ensembl:ENST00000276927) - c.296C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1308181740 | 100 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.21440806G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440806G>A Locations: - p.Trp100Ter (Ensembl:ENST00000276927) - c.299G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs762951011 | 101 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (1) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000009.12:g.21440808G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440808G>A Locations: - p.D101N (NCI-TCGA:ENST00000276927) - p.Asp101Asn (Ensembl:ENST00000276927) - c.301G>A (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1272004314 | 103 | D>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440815A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440815A>G Locations: - p.Asp103Gly (Ensembl:ENST00000276927) - c.308A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
TCGA novel | 104 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.791) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440817C>T Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440817C>T Locations: - c.310C>T (NCI-TCGA:ENST00000276927) - p.L104F (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1391375420 | 104 | L>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440818T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440818T>C Locations: - p.Leu104Pro (Ensembl:ENST00000276927) - c.311T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1011990723 | 109 | C>F | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000009.12:g.21440833G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440833G>T Locations: - p.Cys109Phe (Ensembl:ENST00000276927) - c.326G>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818363271 | 109 | C>R | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000009.12:g.21440832T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440832T>C Locations: - p.Cys109Arg (Ensembl:ENST00000276927) - c.325T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1011990723 | 109 | C>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.21440833G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440833G>C Locations: - p.Cys109Ser (Ensembl:ENST00000276927) - c.326G>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs764310682 | 110 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000009.12:g.21440835A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440835A>G Locations: - p.Thr110Ala (Ensembl:ENST00000276927) - c.328A>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1234433955 | 110 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000009.12:g.21440836C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440836C>G Locations: - p.Thr110Ser (Ensembl:ENST00000276927) - c.329C>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1586976054 | 111 | E>D | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000009.12:g.21440840A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440840A>C Locations: - p.Glu111Asp (Ensembl:ENST00000276927) - c.333A>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV52807059 rs761640819 | 111 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.288) - SIFT: deleterious (0.01) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00003813 (gnomAD) Accession: NC_000009.12:g.21440838G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440838G>A Locations: - p.E111K (NCI-TCGA:ENST00000276927) - p.Glu111Lys (Ensembl:ENST00000276927) - c.331G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs767325677 | 112 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440841C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440841C>T Locations: - p.Leu112Phe (Ensembl:ENST00000276927) - c.334C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs767325677 | 112 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440841C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440841C>A Locations: - p.Leu112Ile (Ensembl:ENST00000276927) - c.334C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
TCGA novel | 112 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440842T>G Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440842T>G Locations: - c.335T>G (NCI-TCGA:ENST00000276927) - p.L112R (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1818363717 | 114 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440847C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440847C>A Locations: - p.Gln114Lys (Ensembl:ENST00000276927) - c.340C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1252688489 | 114 | Q>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440848A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440848A>C Locations: - p.Gln114Pro (Ensembl:ENST00000276927) - c.341A>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs750388283 | 115 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440852G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440852G>C Locations: - p.Gln115His (Ensembl:ENST00000276927) - c.345G>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1177062479 | 115 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440851A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440851A>G Locations: - p.Gln115Arg (Ensembl:ENST00000276927) - c.344A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818363943 | 117 | N>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440857A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440857A>T Locations: - p.Asn117Ile (Ensembl:ENST00000276927) - c.350A>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
TCGA novel | 120 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.21440865G>T Consequence type: stop gained Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440865G>T Locations: - c.358G>T (NCI-TCGA:ENST00000276927) - p.E120* (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs756076687 | 122 | C>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440871T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440871T>C Locations: - p.Cys122Arg (Ensembl:ENST00000276927) - c.364T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs753403576 | 124 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000009.12:g.21440879G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440879G>A Locations: - p.Met124Ile (Ensembl:ENST00000276927) - c.372G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs766163997 | 124 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_000009.12:g.21440878T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440878T>C Locations: - p.Met124Thr (Ensembl:ENST00000276927) - c.371T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1586976065 | 125 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440881A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440881A>T Locations: - p.Gln125Leu (Ensembl:ENST00000276927) - c.374A>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1586976065 | 125 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.21440881A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440881A>G Locations: - p.Gln125Arg (Ensembl:ENST00000276927) - c.374A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818364288 | 126 | E>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000009.12:g.21440884A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440884A>T Locations: - p.Glu126Val (Ensembl:ENST00000276927) - c.377A>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs778739952 | 127 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.21440888G>C, NC_000009.12:g.21440888G>T Codon: GAG/GAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440888G>C, NC_000009.12:g.21440888G>T Locations: - p.Glu127Asp (Ensembl:ENST00000276927) - c.381G>C (Ensembl:ENST00000276927) - c.381G>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs754489922 | 127 | E>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440887A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440887A>T Locations: - p.Glu127Val (Ensembl:ENST00000276927) - c.380A>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs757744146 | 128 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440889A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440889A>G Locations: - p.Arg128Gly (Ensembl:ENST00000276927) - c.382A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs781606132 | 128 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000009.12:g.21440890G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440890G>A Locations: - p.Arg128Lys (Ensembl:ENST00000276927) - c.383G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs757744146 | 128 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440889A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440889A>T Locations: - p.Arg128Trp (Ensembl:ENST00000276927) - c.382A>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV99439773 rs746427295 rs746427295,COSV99439773 | 130 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (1) - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000004524 (gnomAD) Accession: NC_000009.12:g.21440896G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440896G>A Locations: - p.G130E (NCI-TCGA:ENST00000276927) - p.Gly130Glu (Ensembl:ENST00000276927) - c.389G>A (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs780363576 | 132 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.21440902C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440902C>T Locations: - p.Thr132Ile (Ensembl:ENST00000276927) - c.395C>T (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs774608644 | 133 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000009.12:g.21440905C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440905C>T Locations: - p.Pro133Leu (Ensembl:ENST00000276927) - c.398C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs749389002 | 133 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: tolerated (0.23) - SIFT: tolerated (0.17) Somatic: No Population frequencies: - MAF: 0.000008621 (gnomAD) Accession: NC_000009.12:g.21440904C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440904C>T Locations: - p.P133S (NCI-TCGA:ENST00000276927) - p.Pro133Ser (Ensembl:ENST00000276927) - c.397C>T (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs749389002 | 133 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440904C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440904C>A Locations: - p.Pro133Thr (Ensembl:ENST00000276927) - c.397C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1230823053 | 135 | M>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440911T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440911T>C Locations: - p.Met135Thr (Ensembl:ENST00000276927) - c.404T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs762012838 | 136 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000009.12:g.21440914A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440914A>G Locations: - p.Asn136Ser (Ensembl:ENST00000276927) - c.407A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs2230050 | 137 | A>E | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440917C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440917C>A Locations: - p.Ala137Glu (Ensembl:ENST00000276927) - c.410C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1306921166 | 137 | A>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000009.12:g.21440916G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440916G>A Locations: - p.Ala137Thr (Ensembl:ENST00000276927) - c.409G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
VAR_013000 RCV000972793 rs2230050 | 137 | A>V | alpha-1B (UniProt) | Benign (Ensembl, ClinVar, UniProt) | UniProt ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.02356 (ClinVar) Accession: NC_000009.12:g.21440917C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440917C>T Locations: - p.Ala137Val (UniProt:P01562) Source type: mixed | |||||||
rs1818365355 | 138 | D>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440920A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440920A>C Locations: - p.Asp138Ala (Ensembl:ENST00000276927) - c.413A>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
TCGA novel | 139 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440923C>G Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440923C>G Locations: - c.416C>G (NCI-TCGA:ENST00000276927) - p.S139C (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1818365403 | 139 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440923C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440923C>A Locations: - p.Ser139Tyr (Ensembl:ENST00000276927) - c.416C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818365603 | 144 | K>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440937A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440937A>G Locations: - p.Lys144Glu (Ensembl:ENST00000276927) - c.430A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV52806706 | 144 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.392) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.21440939G>T Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440939G>T Locations: - c.432G>T (NCI-TCGA:ENST00000276927) - p.K144N (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs764816473 | 144 | K>R | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440938A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440938A>G Locations: - p.Lys144Arg (Ensembl:ENST00000276927) - c.431A>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1818365741 | 146 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440944A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440944A>G Locations: - p.Tyr146Cys (Ensembl:ENST00000276927) - c.437A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV52806429 rs777221783 | 148 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00000813 (gnomAD) Accession: NC_000009.12:g.21440949C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440949C>T Locations: - p.R148* (NCI-TCGA:ENST00000276927) - p.Arg148Ter (Ensembl:ENST00000276927) - c.442C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV52806429 rs777221783 | 148 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.444) - SIFT: deleterious (0.01) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000009.12:g.21440949C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440949C>G Locations: - p.R148G (NCI-TCGA:ENST00000276927) - p.Arg148Gly (Ensembl:ENST00000276927) - c.442C>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs370370604 | 148 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440950G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440950G>T Locations: - p.Arg148Leu (Ensembl:ENST00000276927) - c.443G>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs370370604 | 148 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21440950G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440950G>A Locations: - p.Arg148Gln (Ensembl:ENST00000276927) - c.443G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818365983 | 151 | T>P | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440958A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440958A>C Locations: - p.Thr151Pro (Ensembl:ENST00000276927) - c.451A>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV99439841 | 151 | T>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.4) Somatic: Yes Accession: NC_000009.12:g.21440958A>T Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440958A>T Locations: - c.451A>T (NCI-TCGA:ENST00000276927) - p.T151S (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1352088328 | 152 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.88) Somatic: No Accession: NC_000009.12:g.21440961C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440961C>G Locations: - p.Leu152Val (Ensembl:ENST00000276927) - c.454C>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs566423831 | 153 | Y>* | 1000Genomes TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.21440966T>A Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440966T>A Locations: - p.Tyr153Ter (Ensembl:ENST00000276927) - c.459T>A (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs371192309 | 153 | Y>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440965A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440965A>G Locations: - p.Tyr153Cys (Ensembl:ENST00000276927) - c.458A>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs373879408 | 155 | T>I | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21440971C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440971C>T Locations: - p.Thr155Ile (Ensembl:ENST00000276927) - c.464C>T (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs2117915068 | 156 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440973G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440973G>C Locations: - p.Glu156Gln (Ensembl:ENST00000276927) - c.466G>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818366398 | 157 | K>E | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440976A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440976A>G Locations: - p.Lys157Glu (Ensembl:ENST00000276927) - c.469A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1026216875 | 157 | K>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440977A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440977A>C Locations: - p.Lys157Thr (Ensembl:ENST00000276927) - c.470A>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs528473053 | 158 | K>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.21440981A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440981A>T Locations: - p.Lys158Asn (Ensembl:ENST00000276927) - c.474A>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs778963264 | 160 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440985A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440985A>C Locations: - p.Ser160Arg (Ensembl:ENST00000276927) - c.478A>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1563886478 | 161 | P>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21440989C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440989C>G Locations: - p.Pro161Arg (Ensembl:ENST00000276927) - c.482C>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV52806770 rs772355393 | 162 | C>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00000437 (gnomAD) Accession: NC_000009.12:g.21440991T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440991T>A Locations: - p.C162S (NCI-TCGA:ENST00000276927) - p.Cys162Ser (Ensembl:ENST00000276927) - c.484T>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
VAR_025173 RCV000947160 rs28383794 | 163 | A>G | Benign (Ensembl, ClinVar) | UniProt ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.08666 (ClinVar) Accession: NC_000009.12:g.21440995C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440995C>G Locations: - p.Ala163Gly (UniProt:P01562) Source type: mixed | |||||||
rs773260483 | 163 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.21440994G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440994G>T Locations: - p.Ala163Ser (Ensembl:ENST00000276927) - c.487G>T (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1209182631 | 164 | W>C | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440999G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440999G>T Locations: - p.Trp164Cys (Ensembl:ENST00000276927) - c.492G>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs770601450 | 164 | W>L | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21440998G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21440998G>T Locations: - p.Trp164Leu (Ensembl:ENST00000276927) - c.491G>T (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs776758002 | 165 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21441001A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441001A>G Locations: - p.Glu165Gly (Ensembl:ENST00000276927) - c.494A>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1563886504 | 165 | E>K | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21441000G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441000G>A Locations: - p.Glu165Lys (Ensembl:ENST00000276927) - c.493G>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs759532161 | 166 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21441004T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441004T>C Locations: - p.Val166Ala (Ensembl:ENST00000276927) - c.497T>C (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1818367208 | 166 | V>F | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21441003G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441003G>T Locations: - p.Val166Phe (Ensembl:ENST00000276927) - c.496G>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs759532161 | 166 | V>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21441004T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441004T>G Locations: - p.Val166Gly (Ensembl:ENST00000276927) - c.497T>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1463006497 | 169 | A>E | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.21441013C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441013C>A Locations: - p.Ala169Glu (Ensembl:ENST00000276927) - c.506C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1463006497 | 169 | A>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000009.12:g.21441013C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441013C>T Locations: - p.Ala169Val (Ensembl:ENST00000276927) - c.506C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs752258001 | 171 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000009.12:g.21441018A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441018A>G Locations: - p.Ile171Val (Ensembl:ENST00000276927) - c.511A>G (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1413821023 | 172 | M>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.21441022T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441022T>C Locations: - p.Met172Thr (Ensembl:ENST00000276927) - c.515T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV52806665 | 173 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.619) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000009.12:g.21441025G>A Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441025G>A Locations: - c.518G>A (NCI-TCGA:ENST00000276927) - p.R173K (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1255618048 | 174 | S>Y | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.21441028C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441028C>A Locations: - p.Ser174Tyr (Ensembl:ENST00000276927) - c.521C>A (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs762310193 | 175 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21441030C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441030C>T Locations: - p.Leu175Phe (Ensembl:ENST00000276927) - c.523C>T (Ensembl:ENST00000276927) Source type: large scale study | |||||||
rs1197383938 | 176 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21441034C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441034C>G Locations: - p.Ser176Cys (Ensembl:ENST00000276927) - c.527C>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs751128915 | 178 | S>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.21441040C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441040C>T Locations: - p.Ser178Leu (Ensembl:ENST00000276927) - c.533C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs763826566 | 178 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.21441039T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441039T>C Locations: - p.Ser178Pro (Ensembl:ENST00000276927) - c.532T>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV52806868 | 178 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000009.12:g.21441039T>A Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441039T>A Locations: - c.532T>A (NCI-TCGA:ENST00000276927) - p.S178T (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV99439997 | 179 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.51) Somatic: Yes Accession: NC_000009.12:g.21441042A>G Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441042A>G Locations: - c.535A>G (NCI-TCGA:ENST00000276927) - p.T179A (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1818367730 | 179 | T>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.21441043C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441043C>T Locations: - p.Thr179Ile (Ensembl:ENST00000276927) - c.536C>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1336855108 | 180 | N>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000009.12:g.21441046A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441046A>T Locations: - p.Asn180Ile (Ensembl:ENST00000276927) - c.539A>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1336855108 | 180 | N>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000009.12:g.21441046A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441046A>G Locations: - p.Asn180Ser (Ensembl:ENST00000276927) - c.539A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs756555323 | 180 | N>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.21441045A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441045A>T Locations: - p.Asn180Tyr (Ensembl:ENST00000276927) - c.538A>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1319471597 | 183 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000009.12:g.21441055A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441055A>G Locations: - p.Glu183Gly (Ensembl:ENST00000276927) - c.548A>G (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV52806838 | 184 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.21441058G>T Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441058G>T Locations: - c.551G>T (NCI-TCGA:ENST00000276927) - p.R184I (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV52806838 | 184 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.386) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000009.12:g.21441058G>C Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441058G>C Locations: - c.551G>C (NCI-TCGA:ENST00000276927) - p.R184T (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV99439975 | 187 | R>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.213) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000009.12:g.21441067G>T Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441067G>T Locations: - c.560G>T (NCI-TCGA:ENST00000276927) - p.R187M (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV99439981 rs1339698516 | 187 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.72) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.21441068G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441068G>T Locations: - p.R187S (NCI-TCGA:ENST00000276927) - p.Arg187Ser (Ensembl:ENST00000276927) - c.561G>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1242130877 | 187 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.21441066A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441066A>T Locations: - p.Arg187Trp (Ensembl:ENST00000276927) - c.559A>T (Ensembl:ENST00000276927) Source type: large scale study Cross-references: | |||||||
COSV52806379 | 189 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.6) Somatic: Yes Accession: NC_000009.12:g.21441072G>A Consequence type: missense Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441072G>A Locations: - c.565G>A (NCI-TCGA:ENST00000276927) - p.E189K (NCI-TCGA:ENST00000276927) Source type: large scale study Cross-references: | |||||||
rs1315425588 | 190 | *>S | TOPMed | ||||
Consequence: stop lost Somatic: No Accession: NC_000009.12:g.21441076A>C Codon: TAA/TCA Consequence type: stop lost Cytogenetic band: 9p21.3 Genomic location: NC_000009.12:g.21441076A>C Locations: - p.Ter190SerextTer11 (Ensembl:ENST00000276927) - c.569A>C (Ensembl:ENST00000276927) Source type: large scale study Cross-references: |