G5E948 · G5E948_HUMAN
- Proteinnon-specific serine/threonine protein kinase
- GeneMAP4K4
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1384 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs372199776 | 3 | N>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000002.12:g.101698089C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698089C>A Locations: - p.Asn3Lys (Ensembl:ENST00000324219) - c.9C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs750177799 | 4 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101698091A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698091A>G Locations: - p.Asp4Gly (Ensembl:ENST00000324219) - c.11A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2035261275 | 6 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101698097C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698097C>G Locations: - p.Pro6Arg (Ensembl:ENST00000324219) - c.17C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1422015880 | 6 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101698096C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698096C>T Locations: - p.Pro6Ser (Ensembl:ENST00000324219) - c.16C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56343817 | 7 | A>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698100C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698100C>A Locations: - p.Ala7Glu (cosmic curated:ENST00000324219) - c.20C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105876826 | 7 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698099G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698099G>A Locations: - p.Ala7Thr (cosmic curated:ENST00000324219) - c.19G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1219694544 | 8 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101698102A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698102A>G Locations: - p.Lys8Glu (Ensembl:ENST00000324219) - c.22A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2035267935 | 9 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101698106G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698106G>A Locations: - p.Ser9Asn (Ensembl:ENST00000324219) - c.26G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2035271150 | 11 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101698111G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698111G>A Locations: - p.Val11Met (Ensembl:ENST00000324219) - c.31G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs528526971 | 13 | I>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101698117A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698117A>C Locations: - p.Ile13Leu (Ensembl:ENST00000324219) - c.37A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1272906618 | 14 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101698120G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698120G>A Locations: - p.Asp14Asn (Ensembl:ENST00000324219) - c.40G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2035279070 | 15 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101698123C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698123C>T Locations: - p.Leu15Phe (Ensembl:ENST00000324219) - c.43C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337248 | 15 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698123C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698123C>A Locations: - p.Leu15Ile (cosmic curated:ENST00000324219) - c.43C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153586 | 16 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698126T>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698126T>C Locations: - p.S16P (NCI-TCGA:ENST00000324219) - p.Ser16Pro (cosmic curated:ENST00000324219) - c.46T>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153511 | 16 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698127C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698127C>A Locations: - p.Ser16Tyr (cosmic curated:ENST00000324219) - c.47C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1335683836 | 17 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101698130C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698130C>A Locations: - p.Ser17Tyr (Ensembl:ENST00000324219) - c.50C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV104534425 | 20 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698474A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698474A>G Locations: - p.Asp20Gly (cosmic curated:ENST00000324219) - c.59A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs775210198 | 22 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101698480C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698480C>G Locations: - p.Ala22Gly (Ensembl:ENST00000324219) - c.65C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325011 | 22 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698480C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698480C>T Locations: - p.Ala22Val (cosmic curated:ENST00000324219) - c.65C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV104534462 | 23 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698482G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698482G>T Locations: - p.Gly23Trp (cosmic curated:ENST00000324219) - c.67G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340395 | 24 | I>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698486T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698486T>G Locations: - p.Ile24Ser (cosmic curated:ENST00000324219) - c.71T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV104534448 | 26 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698491G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698491G>A Locations: - p.Glu26Lys (cosmic curated:ENST00000324219) - c.76G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56331686 | 27 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698494C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698494C>A Locations: - p.Leu27Met (cosmic curated:ENST00000324219) - c.79C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1263705072 | 27 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101698495T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698495T>C Locations: - p.Leu27Pro (Ensembl:ENST00000324219) - c.80T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs763682365 | 27 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101698494C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698494C>G Locations: - p.Leu27Val (Ensembl:ENST00000324219) - c.79C>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56327629 | 30 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698504T>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698504T>C Locations: - p.V30A (NCI-TCGA:ENST00000324219) - p.Val30Ala (cosmic curated:ENST00000324219) - c.89T>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336437 | 31 | V>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698505-101698506GG>AT Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698505-101698506GG>AT Locations: - p.Val31Phe (cosmic curated:ENST00000324219) - c.90_91delinsAT (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56324534 | 31 | V>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698507T>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698507T>G Locations: - p.V31G (NCI-TCGA:ENST00000324219) - p.Val31Gly (cosmic curated:ENST00000324219) - c.92T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56330556 | 32 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698509G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698509G>A Locations: - p.Gly32Arg (cosmic curated:ENST00000324219) - c.94G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154690 | 34 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698515G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698515G>T Locations: - p.G34C (NCI-TCGA:ENST00000324219) - p.Gly34Cys (cosmic curated:ENST00000324219) - c.100G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153354 | 35 | T>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698518A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698518A>C Locations: - p.Thr35Pro (cosmic curated:ENST00000324219) - c.103A>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1247613496 | 36 | Y>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000004013 (gnomAD) Accession: NC_000002.12:g.101698522A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698522A>T Locations: - p.Y36F (NCI-TCGA:ENST00000324219) - p.Tyr36Phe (Ensembl:ENST00000324219) - c.107A>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56324383 | 37 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698524G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101698524G>T Locations: - p.Gly37Ter (cosmic curated:ENST00000324219) - c.109G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2035943716 | 40 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101698534A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698534A>G Locations: - p.Tyr40Cys (Ensembl:ENST00000324219) - c.119A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2035943716 | 40 | Y>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101698534A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698534A>T Locations: - p.Tyr40Phe (Ensembl:ENST00000324219) - c.119A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs755352398 | 40 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101698533T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698533T>C Locations: - p.Tyr40His (Ensembl:ENST00000324219) - c.118T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155303 | 41 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101698538G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101698538G>T Locations: - p.K41N (NCI-TCGA:ENST00000324219) - p.Lys41Asn (cosmic curated:ENST00000324219) - c.123G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329076 | 42 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101790720G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101790720G>A Locations: - p.Gly42Ser (cosmic curated:ENST00000324219) - c.124G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2092727024 | 43 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101790723C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101790723C>T Locations: - p.R43* (NCI-TCGA:ENST00000324219) - p.Arg43Ter (Ensembl:ENST00000324219) - c.127C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV56324785 rs2092727259 | 43 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101790724G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101790724G>A Locations: - p.R43Q (NCI-TCGA:ENST00000324219) - p.Arg43Gln (Ensembl:ENST00000324219) - c.128G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1208456538 | 46 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101790732A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101790732A>C Locations: - p.Lys46Gln (Ensembl:ENST00000324219) - c.136A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336056 rs1235107648 | 47 | T>M | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101790736C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101790736C>T Locations: - p.Thr47Met (Ensembl:ENST00000324219) - c.140C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs376492613 | 48 | G>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101790738G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101790738G>T Locations: - p.Gly48Cys (Ensembl:ENST00000324219) - c.142G>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2092728606 | 49 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101790743G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101790743G>C Locations: - p.Gln49His (Ensembl:ENST00000324219) - c.147G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329413 | 50 | L>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101790745T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101790745T>A Locations: - p.Leu50Ter (cosmic curated:ENST00000324219) - c.149T>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329913 | 52 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101790751C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101790751C>T Locations: - p.Ala52Val (cosmic curated:ENST00000324219) - c.155C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56331668 | 54 | K>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101790756A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101790756A>G Locations: - p.Lys54Glu (cosmic curated:ENST00000324219) - c.160A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1239475028 | 55 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101790759G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101790759G>A Locations: - p.Val55Ile (Ensembl:ENST00000324219) - c.163G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1471305706 | 57 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101790766A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101790766A>G Locations: - p.Asp57Gly (Ensembl:ENST00000324219) - c.170A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1250371319 | 57 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101790765G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101790765G>T Locations: - p.Asp57Tyr (Ensembl:ENST00000324219) - c.169G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1558939686 | 59 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101790771A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101790771A>C Locations: - p.Thr59Pro (Ensembl:ENST00000324219) - c.175A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1252390848 | 61 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101823929A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823929A>G Locations: - p.Asp61Gly (Ensembl:ENST00000324219) - c.182A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100156228 | 62 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101823931G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101823931G>T Locations: - p.Glu62Ter (cosmic curated:ENST00000324219) - c.184G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153243 | 65 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101823940G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823940G>T Locations: - p.E65* (NCI-TCGA:ENST00000324219) - p.Glu65Ter (cosmic curated:ENST00000324219) - c.193G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325345 | 68 | L>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101823950T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101823950T>A Locations: - p.Leu68Gln (cosmic curated:ENST00000324219) - c.203T>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1321455526 | 71 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101823958A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823958A>G Locations: - p.Asn71Asp (Ensembl:ENST00000324219) - c.211A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2096227789 | 72 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101823961A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823961A>G Locations: - p.Met72Val (Ensembl:ENST00000324219) - c.214A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1408672619 | 73 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101823964C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823964C>G Locations: - p.Leu73Val (Ensembl:ENST00000324219) - c.217C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153425 COSV56336064 | 74 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101823969G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823969G>T Locations: - p.K74N (NCI-TCGA:ENST00000324219) - p.Lys74Asn (cosmic curated:ENST00000324219) - c.222G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56324517 | 76 | Y>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101823974A>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823974A>T Locations: - p.Y76F (NCI-TCGA:ENST00000324219) - p.Tyr76Phe (cosmic curated:ENST00000324219) - c.227A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155391 COSV56325717 | 77 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101823977C>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823977C>G Locations: - p.S77C (NCI-TCGA:ENST00000324219) - p.Ser77Cys (cosmic curated:ENST00000324219) - c.230C>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325717 | 77 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101823977C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101823977C>T Locations: - p.Ser77Phe (cosmic curated:ENST00000324219) - c.230C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1216879809 | 78 | H>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101823979C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823979C>A Locations: - p.His78Asn (Ensembl:ENST00000324219) - c.232C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1216879809 | 78 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101823979C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823979C>T Locations: - p.His78Tyr (Ensembl:ENST00000324219) - c.232C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2149335630 | 79 | H>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101823983A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823983A>T Locations: - p.His79Leu (Ensembl:ENST00000324219) - c.236A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs974642755 | 80 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101823986G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823986G>A Locations: - p.Arg80Lys (Ensembl:ENST00000324219) - c.239G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56334061 | 81 | N>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101823988A>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823988A>C Locations: - p.N81H (NCI-TCGA:ENST00000324219) - p.Asn81His (cosmic curated:ENST00000324219) - c.241A>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105123054 rs1190390421 | 82 | I>T | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101823992T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101823992T>C Locations: - p.Ile82Thr (Ensembl:ENST00000324219) - c.245T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs55856263 | 85 | Y>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000004077 (gnomAD) - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101824002T>A Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101824002T>A Locations: - p.Y85* (NCI-TCGA:ENST00000324219) - p.Tyr85Ter (Ensembl:ENST00000324219) - c.255T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56335660 | 88 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101824010C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101824010C>T Locations: - p.A88V (NCI-TCGA:ENST00000324219) - p.Ala88Val (cosmic curated:ENST00000324219) - c.263C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1427682991 | 90 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101824015A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101824015A>G Locations: - p.Ile90Val (Ensembl:ENST00000324219) - c.268A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2096228819 | 91 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101824019A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101824019A>G Locations: - p.Lys91Arg (Ensembl:ENST00000324219) - c.272A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs935878606 | 93 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101824024A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101824024A>C Locations: - p.Ser93Arg (Ensembl:ENST00000324219) - c.277A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2096229097 | 95 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101824031C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101824031C>T Locations: - p.Pro95Leu (Ensembl:ENST00000324219) - c.284C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155828 | 95 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101824030C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101824030C>A Locations: - p.Pro95Thr (cosmic curated:ENST00000324219) - c.283C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56327733 | 96 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101824033G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101824033G>T Locations: - p.G96* (NCI-TCGA:ENST00000324219) - p.Gly96Ter (cosmic curated:ENST00000324219) - c.286G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105123065 | 96 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101824033G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101824033G>A Locations: - p.Gly96Arg (cosmic curated:ENST00000324219) - c.286G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1482809315 | 98 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101824039G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101824039G>A Locations: - p.Asp98Asn (Ensembl:ENST00000324219) - c.292G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs867449693 | 100 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101824045C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101824045C>T Locations: - p.Gln100Ter (Ensembl:ENST00000324219) - c.298C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1390113038 | 103 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101825319C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825319C>T Locations: - p.Leu103Phe (Ensembl:ENST00000324219) - c.307C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56332703 | 104 | V>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101825323T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101825323T>A Locations: - p.Val104Asp (cosmic curated:ENST00000324219) - c.311T>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153480 | 104 | V>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101825323T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101825323T>G Locations: - p.Val104Gly (cosmic curated:ENST00000324219) - c.311T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV99043052 | 107 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101825333C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101825333C>A Locations: - p.Phe107Leu (cosmic curated:ENST00000324219) - c.321C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1323746856 | 108 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101825335G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825335G>A Locations: - p.Cys108Tyr (Ensembl:ENST00000324219) - c.323G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153216 | 109 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101825337G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101825337G>T Locations: - p.Gly109Trp (cosmic curated:ENST00000324219) - c.325G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153983 | 111 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101825343G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101825343G>T Locations: - p.Gly111Trp (cosmic curated:ENST00000324219) - c.331G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1351156709 | 113 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101825349A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825349A>G Locations: - p.Ile113Val (Ensembl:ENST00000324219) - c.337A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325783 | 115 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101825355G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825355G>A Locations: - p.D115N (NCI-TCGA:ENST00000324219) - p.Asp115Asn (cosmic curated:ENST00000324219) - c.343G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100156358 | 118 | K>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101825364A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101825364A>G Locations: - p.Lys118Glu (cosmic curated:ENST00000324219) - c.352A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs765225661 | 121 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101825374A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825374A>G Locations: - p.Lys121Arg (Ensembl:ENST00000324219) - c.362A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2096301402 | 122 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101825377G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825377G>A Locations: - p.Gly122Glu (Ensembl:ENST00000324219) - c.365G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2096301586 | 123 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101825380A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825380A>G Locations: - p.Asn123Ser (Ensembl:ENST00000324219) - c.368A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1388049230 | 124 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101825382A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825382A>G Locations: - p.Thr124Ala (Ensembl:ENST00000324219) - c.370A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2096301907 | 125 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101825385C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825385C>G Locations: - p.Leu125Val (Ensembl:ENST00000324219) - c.373C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1364414034 | 131 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101825403G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825403G>T Locations: - p.Ala131Ser (Ensembl:ENST00000324219) - c.391G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325036 | 131 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101825403G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825403G>A Locations: - p.A131T (NCI-TCGA:ENST00000324219) - p.Ala131Thr (cosmic curated:ENST00000324219) - c.391G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1322468820 | 133 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101825409A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825409A>C Locations: - p.Ile133Leu (Ensembl:ENST00000324219) - c.397A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56331560 | 134 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101825413C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101825413C>T Locations: - p.S134F (NCI-TCGA:ENST00000324219) - p.Ser134Phe (cosmic curated:ENST00000324219) - c.401C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105876822 | 136 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101825418G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101825418G>T Locations: - p.Glu136Ter (cosmic curated:ENST00000324219) - c.406G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340530 | 139 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101825428-101825429GG>AA Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101825428-101825429GG>AA Locations: - p.Arg139Lys (cosmic curated:ENST00000324219) - c.416_417delinsAA (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56332088 | 140 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101829504G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829504G>T Locations: - p.G140* (NCI-TCGA:ENST00000324219) - p.Gly140Ter (cosmic curated:ENST00000324219) - c.418G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV106450404 | 140 | G>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101829504-101829505GG>AA Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101829504-101829505GG>AA Locations: - p.Gly140Lys (cosmic curated:ENST00000324219) - c.418_419delinsAA (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155267 | 141 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101829507C>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829507C>G Locations: - p.L141V (NCI-TCGA:ENST00000324219) - p.Leu141Val (cosmic curated:ENST00000324219) - c.421C>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1254830144 | 142 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101829510G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829510G>A Locations: - p.Ala142Thr (Ensembl:ENST00000324219) - c.424G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100156252 | 145 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101829519C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101829519C>T Locations: - p.His145Tyr (cosmic curated:ENST00000324219) - c.433C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1182529595 | 146 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101829522A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829522A>C Locations: - p.Ile146Leu (Ensembl:ENST00000324219) - c.436A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1410767752 | 147 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101829525C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829525C>A Locations: - p.His147Asn (Ensembl:ENST00000324219) - c.439C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs751406853 | 147 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101829526A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829526A>G Locations: - p.His147Arg (Ensembl:ENST00000324219) - c.440A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56340540 | 148 | H>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101829529A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101829529A>T Locations: - p.His148Leu (cosmic curated:ENST00000324219) - c.443A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs780950846 | 148 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101829529A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829529A>G Locations: - p.His148Arg (Ensembl:ENST00000324219) - c.443A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1359692414 | 148 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101829528C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829528C>T Locations: - p.His148Tyr (Ensembl:ENST00000324219) - c.442C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1310961140 | 149 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101829531G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829531G>A Locations: - p.Val149Met (Ensembl:ENST00000324219) - c.445G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56341419 | 151 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101829537C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829537C>T Locations: - p.H151Y (NCI-TCGA:ENST00000324219) - p.His151Tyr (cosmic curated:ENST00000324219) - c.451C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329167 | 152 | R>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101829540C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101829540C>G Locations: - p.Arg152Gly (cosmic curated:ENST00000324219) - c.454C>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329167 rs749844971 | 152 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101829540C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829540C>T Locations: - p.R152W (NCI-TCGA:ENST00000324219) - p.Arg152Trp (Ensembl:ENST00000324219) - c.454C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV106450401 | 153 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101829543G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101829543G>A Locations: - p.Asp153Asn (cosmic curated:ENST00000324219) - c.457G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1228631035 | 156 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101829552G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829552G>A Locations: - p.Gly156Ser (Ensembl:ENST00000324219) - c.466G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1182240330 | 157 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101829555C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829555C>G Locations: - p.Gln157Glu (Ensembl:ENST00000324219) - c.469C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1371387917 | 159 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101829561G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829561G>A Locations: - p.Val159Met (Ensembl:ENST00000324219) - c.475G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs746630060 | 162 | T>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101829571C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829571C>G Locations: - p.Thr162Ser (Ensembl:ENST00000324219) - c.485C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56326936 | 165 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101829579G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101829579G>T Locations: - p.Ala165Ser (cosmic curated:ENST00000324219) - c.493G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56330752 rs945638324 | 165 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101829580C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829580C>T Locations: - p.A165V (NCI-TCGA:ENST00000324219) - p.Ala165Val (Ensembl:ENST00000324219) - c.494C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154629 | 170 | V>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831721T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831721T>C Locations: - p.Val170Ala (cosmic curated:ENST00000324219) - c.509T>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs779521702 | 170 | V>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101829594G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101829594G>T Locations: - p.Val170Phe (Ensembl:ENST00000324219) - c.508G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV104534440 | 171 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831725C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831725C>A Locations: - p.Asp171Glu (cosmic curated:ENST00000324219) - c.513C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329975 | 171 | D>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831723G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831723G>C Locations: - p.Asp171His (cosmic curated:ENST00000324219) - c.511G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392132 | 175 | S>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831735A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831735A>T Locations: - p.Ser175Cys (cosmic curated:ENST00000324219) - c.523A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155989 | 176 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831739C>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101831739C>A Locations: - p.A176D (NCI-TCGA:ENST00000324219) - p.Ala176Asp (cosmic curated:ENST00000324219) - c.527C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329592 | 177 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831743G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101831743G>T Locations: - p.Q177H (NCI-TCGA:ENST00000324219) - p.Gln177His (cosmic curated:ENST00000324219) - c.531G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2096601826 | 180 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101831751G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101831751G>A Locations: - p.Arg180Lys (Ensembl:ENST00000324219) - c.539G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1467706026 | 184 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101831763G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101831763G>A Locations: - p.Arg184Gln (Ensembl:ENST00000324219) - c.551G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV106450231 rs2096601991 | 184 | R>W | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101831762C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101831762C>T Locations: - p.Arg184Trp (Ensembl:ENST00000324219) - c.550C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1211624298 | 187 | T>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101831772C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101831772C>T Locations: - p.Thr187Met (Ensembl:ENST00000324219) - c.560C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153228 | 192 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831787C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101831787C>T Locations: - p.P192L (NCI-TCGA:ENST00000324219) - p.Pro192Leu (cosmic curated:ENST00000324219) - c.575C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV104534454 | 194 | W>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831794G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831794G>T Locations: - p.Trp194Cys (cosmic curated:ENST00000324219) - c.582G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56338833 | 196 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831799C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831799C>T Locations: - p.Ala196Val (cosmic curated:ENST00000324219) - c.587C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153302 | 197 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831802C>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101831802C>A Locations: - p.P197H (NCI-TCGA:ENST00000324219) - p.Pro197His (cosmic curated:ENST00000324219) - c.590C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV108126229 | 197 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831801C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831801C>T Locations: - p.Pro197Ser (cosmic curated:ENST00000324219) - c.589C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154842 | 198 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831804G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831804G>T Locations: - p.Glu198Ter (cosmic curated:ENST00000324219) - c.592G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154842 COSV56339742 | 198 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831804G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101831804G>A Locations: - p.E198K (NCI-TCGA:ENST00000324219) - p.Glu198Lys (cosmic curated:ENST00000324219) - c.592G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV108126010 | 198 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831804G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831804G>C Locations: - p.Glu198Gln (cosmic curated:ENST00000324219) - c.592G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56330202 | 200 | I>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831810A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831810A>G Locations: - p.Ile200Val (cosmic curated:ENST00000324219) - c.598A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154285 | 201 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831813G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101831813G>A Locations: - p.A201T (NCI-TCGA:ENST00000324219) - p.Ala201Thr (cosmic curated:ENST00000324219) - c.601G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56341037 | 207 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831831G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831831G>A Locations: - p.Asp207Asn (cosmic curated:ENST00000324219) - c.619G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV108126228 | 209 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831838C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831838C>T Locations: - p.Thr209Ile (cosmic curated:ENST00000324219) - c.626C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV104534427 | 210 | Y>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831841A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101831841A>G Locations: - p.Tyr210Cys (cosmic curated:ENST00000324219) - c.629A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1473822922 | 212 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101831848C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101831848C>G Locations: - p.Tyr212Ter (Ensembl:ENST00000324219) - c.636C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154758 | 213 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101831850G>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101831850G>C Locations: - p.R213T (NCI-TCGA:ENST00000324219) - p.Arg213Thr (cosmic curated:ENST00000324219) - c.638G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336408 | 215 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101834412G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101834412G>A Locations: - p.D215N (NCI-TCGA:ENST00000324219) - p.Asp215Asn (cosmic curated:ENST00000324219) - c.643G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV99043069 | 216 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101834415C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101834415C>T Locations: - p.Leu216Phe (cosmic curated:ENST00000324219) - c.646C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155606 | 219 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101834425G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101834425G>A Locations: - p.Cys219Tyr (cosmic curated:ENST00000324219) - c.656G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337395 | 225 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101834443A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101834443A>G Locations: - p.Glu225Gly (cosmic curated:ENST00000324219) - c.674A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337110 | 225 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101834442G>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101834442G>C Locations: - p.E225Q (NCI-TCGA:ENST00000324219) - p.Glu225Gln (cosmic curated:ENST00000324219) - c.673G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105122898 | 227 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101834449C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101834449C>T Locations: - p.Ala227Val (cosmic curated:ENST00000324219) - c.680C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2096684053 | 229 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101834455G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101834455G>T Locations: - p.Gly229Val (Ensembl:ENST00000324219) - c.686G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105123028 | 231 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101834461C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101834461C>T Locations: - p.Pro231Leu (cosmic curated:ENST00000324219) - c.692C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1350667772 | 232 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101834463C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101834463C>T Locations: - p.Pro232Ser (Ensembl:ENST00000324219) - c.694C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155232 | 232 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101834463C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101834463C>A Locations: - p.Pro232Thr (cosmic curated:ENST00000324219) - c.694C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV104534489 rs945488941 | 234 | C>R | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101835905T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101835905T>C Locations: - p.Cys234Arg (Ensembl:ENST00000324219) - c.700T>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs762374702 | 236 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101835911A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101835911A>T Locations: - p.Met236Leu (Ensembl:ENST00000324219) - c.706A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs762374702 | 236 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101835911A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101835911A>G Locations: - p.Met236Val (Ensembl:ENST00000324219) - c.706A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336196 | 239 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101835922G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101835922G>A Locations: - p.Met239Ile (cosmic curated:ENST00000324219) - c.717G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154960 | 245 | I>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101835939T>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101835939T>G Locations: - p.I245S (NCI-TCGA:ENST00000324219) - p.Ile245Ser (cosmic curated:ENST00000324219) - c.734T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs768067515 | 245 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101835938A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101835938A>G Locations: - p.Ile245Val (Ensembl:ENST00000324219) - c.733A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56331257 | 246 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101835942C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101835942C>T Locations: - p.Pro246Leu (cosmic curated:ENST00000324219) - c.737C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs368448477 | 249 | P>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101835951C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101835951C>G Locations: - p.Pro249Arg (Ensembl:ENST00000324219) - c.746C>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1393833835 | 249 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101835950C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101835950C>T Locations: - p.Pro249Ser (Ensembl:ENST00000324219) - c.745C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56341920 rs868663062 | 250 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101835953C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101835953C>T Locations: - p.P250S (NCI-TCGA:ENST00000324219) - p.Pro250Ser (Ensembl:ENST00000324219) - c.748C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56327042 | 251 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101835957C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101835957C>T Locations: - p.Pro251Leu (cosmic curated:ENST00000324219) - c.752C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1169753598 | 252 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101835959C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101835959C>G Locations: - p.Arg252Gly (Ensembl:ENST00000324219) - c.754C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs371917259 | 252 | R>Q | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101835960G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101835960G>A Locations: - p.Arg252Gln (Ensembl:ENST00000324219) - c.755G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56340985 | 252 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101835959C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101835959C>T Locations: - p.R252W (NCI-TCGA:ENST00000324219) - p.Arg252Trp (cosmic curated:ENST00000324219) - c.754C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs756472521 | 253 | L>M | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101835962C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101835962C>A Locations: - p.Leu253Met (Ensembl:ENST00000324219) - c.757C>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56337294 | 254 | K>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101835963-101835964>CT Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101835963-101835964>CT Locations: - p.Lys254Ter (cosmic curated:ENST00000324219) - c.757_758dup (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325472 rs2096866350 | 259 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101839821C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839821C>T Locations: - p.S259L (NCI-TCGA:ENST00000324219) - p.Ser259Leu (Ensembl:ENST00000324219) - c.776C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105876802 | 261 | K>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839826A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839826A>T Locations: - p.Lys261Ter (cosmic curated:ENST00000324219) - c.781A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV104534438 | 262 | F>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839830T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839830T>A Locations: - p.Phe262Tyr (cosmic curated:ENST00000324219) - c.785T>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153471 | 266 | I>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839841A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839841A>T Locations: - p.Ile266Leu (cosmic curated:ENST00000324219) - c.796A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs773869416 | 266 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101839841A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839841A>G Locations: - p.Ile266Val (Ensembl:ENST00000324219) - c.796A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56331314 rs1163720801 | 268 | G>R | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101839847G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839847G>A Locations: - p.Gly268Arg (Ensembl:ENST00000324219) - c.802G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153675 | 268 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839847G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839847G>T Locations: - p.Gly268Trp (cosmic curated:ENST00000324219) - c.802G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105876803 | 273 | N>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839864T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839864T>A Locations: - p.Asn273Lys (cosmic curated:ENST00000324219) - c.819T>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325244 | 274 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839866A>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839866A>G Locations: - p.Y274C (NCI-TCGA:ENST00000324219) - p.Tyr274Cys (cosmic curated:ENST00000324219) - c.821A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1321149450 | 275 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101839870G>A, NC_000002.12:g.101839870G>C Codon: ATG/ATA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839870G>A, NC_000002.12:g.101839870G>C Locations: - p.Met275Ile (Ensembl:ENST00000324219) - c.825G>A (Ensembl:ENST00000324219) - c.825G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2096866667 | 275 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101839868A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839868A>G Locations: - p.Met275Val (Ensembl:ENST00000324219) - c.823A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1361118802 | 276 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101839871C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839871C>T Locations: - p.Gln276Ter (Ensembl:ENST00000324219) - c.826C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100156083 | 277 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839875G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839875G>T Locations: - p.Arg277Leu (cosmic curated:ENST00000324219) - c.830G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100156206 | 277 | R>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839874C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839874C>T Locations: - p.Arg277Trp (cosmic curated:ENST00000324219) - c.829C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325222 | 278 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839878C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839878C>T Locations: - p.Pro278Leu (cosmic curated:ENST00000324219) - c.833C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56339667 | 278 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839877C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839877C>T Locations: - p.P278S (NCI-TCGA:ENST00000324219) - p.Pro278Ser (cosmic curated:ENST00000324219) - c.832C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs769374977 | 281 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101839888G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839888G>T Locations: - p.Glu281Asp (Ensembl:ENST00000324219) - c.843G>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV107392276 | 284 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839897G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839897G>T Locations: - p.Leu284Phe (cosmic curated:ENST00000324219) - c.852G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392277 | 285 | K>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839898A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839898A>T Locations: - p.Lys285Ter (cosmic curated:ENST00000324219) - c.853A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392278 | 285 | K>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839899A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839899A>T Locations: - p.Lys285Ile (cosmic curated:ENST00000324219) - c.854A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs762381643 | 287 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101839904C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839904C>T Locations: - p.Pro287Ser (Ensembl:ENST00000324219) - c.859C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV100156123 | 290 | R>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839914G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839914G>T Locations: - p.Arg290Met (cosmic curated:ENST00000324219) - c.869G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56339735 rs866505635 | 292 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839919C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839919C>T Locations: - p.Q292* (NCI-TCGA:ENST00000324219) - p.Gln292Ter (Ensembl:ENST00000324219) - c.874C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs373273159 | 293 | P>A | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101839922C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839922C>G Locations: - p.Pro293Ala (Ensembl:ENST00000324219) - c.877C>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs760979075 | 294 | N>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101839926A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839926A>G Locations: - p.Asn294Ser (Ensembl:ENST00000324219) - c.881A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV100156132 | 298 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839937G>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839937G>C Locations: - p.V298L (NCI-TCGA:ENST00000324219) - p.Val298Leu (cosmic curated:ENST00000324219) - c.892G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105876790 | 299 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839941G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839941G>A Locations: - p.Arg299Lys (cosmic curated:ENST00000324219) - c.896G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs755225334 | 305 | H>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101839959A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839959A>T Locations: - p.His305Leu (Ensembl:ENST00000324219) - c.914A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56330229 | 305 | H>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839958C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839958C>A Locations: - p.His305Asn (cosmic curated:ENST00000324219) - c.913C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56324669 | 306 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839961A>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839961A>G Locations: - p.I306V (NCI-TCGA:ENST00000324219) - p.Ile306Val (cosmic curated:ENST00000324219) - c.916A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56327872 | 307 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839964G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839964G>T Locations: - p.Asp307Tyr (cosmic curated:ENST00000324219) - c.919G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56328331 rs779064004 | 308 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0000169 (gnomAD) Accession: NC_000002.12:g.101839967C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839967C>T Locations: - p.R308C (NCI-TCGA:ENST00000324219) - p.Arg308Cys (Ensembl:ENST00000324219) - c.922C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs138586532 | 308 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101839968G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839968G>A Locations: - p.Arg308His (Ensembl:ENST00000324219) - c.923G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2096867527 | 310 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101839974G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839974G>A Locations: - p.Arg310Lys (Ensembl:ENST00000324219) - c.929G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2096867570 | 312 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101839980A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839980A>G Locations: - p.Lys312Arg (Ensembl:ENST00000324219) - c.935A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56328900 rs1344571152 | 315 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101839988G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101839988G>A Locations: - p.E315K (NCI-TCGA:ENST00000324219) - p.Glu315Lys (Ensembl:ENST00000324219) - c.943G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56325121 | 317 | D>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101839994G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101839994G>C Locations: - p.Asp317His (cosmic curated:ENST00000324219) - c.949G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56341055 | 321 | Y>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101842621A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101842621A>G Locations: - p.Tyr321Cys (cosmic curated:ENST00000324219) - c.962A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56331532 | 324 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101842630G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101842630G>T Locations: - p.S324I (NCI-TCGA:ENST00000324219) - p.Ser324Ile (cosmic curated:ENST00000324219) - c.971G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337683 | 326 | S>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101842636G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101842636G>T Locations: - p.Ser326Ile (cosmic curated:ENST00000324219) - c.977G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1576604956 | 326 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101842637T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101842637T>G Locations: - p.Ser326Arg (Ensembl:ENST00000324219) - c.978T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1178222976 | 327 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101842640G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101842640G>T Locations: - p.Glu327Asp (Ensembl:ENST00000324219) - c.981G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1444787842 | 334 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101842660C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101842660C>G Locations: - p.Pro334Arg (Ensembl:ENST00000324219) - c.1001C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs759833561 | 334 | P>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101842659C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101842659C>T Locations: - p.Pro334Ser (Ensembl:ENST00000324219) - c.1000C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2096956878 | 337 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101842670A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101842670A>T Locations: - p.Glu337Asp (Ensembl:ENST00000324219) - c.1011A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340724 | 338 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101842671G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101842671G>T Locations: - p.Gly338Ter (cosmic curated:ENST00000324219) - c.1012G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1181145167 | 343 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844105A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844105A>G Locations: - p.Ile343Val (Ensembl:ENST00000324219) - c.1027A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100615526 | 346 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101844115T>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844115T>C Locations: - p.V346A (NCI-TCGA:ENST00000324219) - p.Val346Ala (cosmic curated:ENST00000324219) - c.1037T>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1352923057 | 346 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844114G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844114G>A Locations: - p.V346M (NCI-TCGA:ENST00000324219) - p.Val346Met (Ensembl:ENST00000324219) - c.1036G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2097014560 | 349 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844124A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844124A>G Locations: - p.Glu349Gly (Ensembl:ENST00000324219) - c.1046A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1326951973 | 350 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844126T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844126T>C Locations: - p.Ser350Pro (Ensembl:ENST00000324219) - c.1048T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097014752 | 351 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844130C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844130C>G Locations: - p.Thr351Ser (Ensembl:ENST00000324219) - c.1052C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56339492 | 354 | R>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101844138C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101844138C>T Locations: - p.Arg354Ter (cosmic curated:ENST00000324219) - c.1060C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56333795 rs1439407435 | 354 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000004056 (gnomAD) Accession: NC_000002.12:g.101844139G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844139G>A Locations: - p.R354Q (NCI-TCGA:ENST00000324219) - p.Arg354Gln (Ensembl:ENST00000324219) - c.1061G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1238457086 | 366 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844174C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844174C>T Locations: - p.Arg366Cys (Ensembl:ENST00000324219) - c.1096C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1305348193 | 366 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844175G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844175G>A Locations: - p.Arg366His (Ensembl:ENST00000324219) - c.1097G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155630 | 368 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101844182G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101844182G>T Locations: - p.Glu368Asp (cosmic curated:ENST00000324219) - c.1104G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1253435496 | 369 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844183G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844183G>C Locations: - p.Ala369Pro (Ensembl:ENST00000324219) - c.1105G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs765546057 | 369 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844184C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844184C>T Locations: - p.Ala369Val (Ensembl:ENST00000324219) - c.1106C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1395893804 | 370 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844186C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844186C>G Locations: - p.Leu370Val (Ensembl:ENST00000324219) - c.1108C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs775976851 | 371 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844190G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844190G>A Locations: - p.Arg371Gln (Ensembl:ENST00000324219) - c.1112G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1191731616 | 371 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001243 (gnomAD) Accession: NC_000002.12:g.101844189C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844189C>T Locations: - p.R371W (NCI-TCGA:ENST00000324219) - p.Arg371Trp (Ensembl:ENST00000324219) - c.1111C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1475790732 | 374 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844199A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844199A>C Locations: - p.Gln374Pro (Ensembl:ENST00000324219) - c.1121A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1475790732 | 374 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844199A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844199A>G Locations: - p.Gln374Arg (Ensembl:ENST00000324219) - c.1121A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs374166171 | 377 | Q>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844208A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844208A>G Locations: - p.Gln377Arg (Ensembl:ENST00000324219) - c.1130A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV106450413 | 380 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101844216C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101844216C>T Locations: - p.Gln380Ter (cosmic curated:ENST00000324219) - c.1138C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs751628814 | 380 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844217A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844217A>G Locations: - p.Gln380Arg (Ensembl:ENST00000324219) - c.1139A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56332448 | 382 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101844223G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101844223G>T Locations: - p.Arg382Leu (cosmic curated:ENST00000324219) - c.1145G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56338826 rs532710355 | 382 | R>Q | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101844223G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844223G>A Locations: - p.Arg382Gln (Ensembl:ENST00000324219) - c.1145G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs757412660 | 382 | R>W | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844222C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844222C>T Locations: - p.Arg382Trp (Ensembl:ENST00000324219) - c.1144C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs956862332 | 386 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844234G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844234G>A Locations: - p.Glu386Lys (Ensembl:ENST00000324219) - c.1156G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1426323632 | 389 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844244G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844244G>A Locations: - p.Arg389Lys (Ensembl:ENST00000324219) - c.1166G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1385570612 | 393 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844256C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844256C>T Locations: - p.Ala393Val (Ensembl:ENST00000324219) - c.1178C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1460205391 | 396 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101844264C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844264C>G Locations: - p.Gln396Glu (Ensembl:ENST00000324219) - c.1186C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340789 | 396 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101844266G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101844266G>T Locations: - p.Gln396His (cosmic curated:ENST00000324219) - c.1188G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56341387 | 398 | R>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101844271G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101844271G>A Locations: - p.Arg398Gln (cosmic curated:ENST00000324219) - c.1193G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1323139694 | 398 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844270C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844270C>T Locations: - p.R398W (NCI-TCGA:ENST00000324219) - p.Arg398Trp (Ensembl:ENST00000324219) - c.1192C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1327468550 | 400 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101844276G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844276G>A Locations: - p.Glu400Lys (Ensembl:ENST00000324219) - c.1198G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1430849006 | 401 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101844279C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844279C>G Locations: - p.Gln401Glu (Ensembl:ENST00000324219) - c.1201C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325626 | 405 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101844293G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101844293G>C Locations: - p.Gln405His (cosmic curated:ENST00000324219) - c.1215G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56330403 rs1164068604 | 407 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101844297C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844297C>T Locations: - p.R407* (NCI-TCGA:ENST00000324219) - p.Arg407Ter (Ensembl:ENST00000324219) - c.1219C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56324324 rs750347302 | 407 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101844298G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844298G>A Locations: - p.Arg407Gln (Ensembl:ENST00000324219) - c.1220G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs779680789 | 408 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101844301G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844301G>A Locations: - p.Arg408Gln (Ensembl:ENST00000324219) - c.1223G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV105122798 rs377621157 | 408 | R>W | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101844300C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101844300C>T Locations: - p.Arg408Trp (Ensembl:ENST00000324219) - c.1222C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337027 | 411 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101844309G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101844309G>T Locations: - p.Glu411Ter (cosmic curated:ENST00000324219) - c.1231G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097441029 | 416 | E>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101855989G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101855989G>T Locations: - p.Glu416Ter (Ensembl:ENST00000324219) - c.1246G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097441131 | 416 | E>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101855990A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101855990A>C Locations: - p.Glu416Ala (Ensembl:ENST00000324219) - c.1247A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56341395 rs2097441029 | 416 | E>Q | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101855989G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101855989G>C Locations: - p.Glu416Gln (Ensembl:ENST00000324219) - c.1246G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155472 | 417 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101855993G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101855993G>T Locations: - p.Arg417Leu (cosmic curated:ENST00000324219) - c.1250G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1416085466 | 417 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101855993G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101855993G>A Locations: - p.Arg417Gln (Ensembl:ENST00000324219) - c.1250G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1342984228 | 417 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101855992C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101855992C>T Locations: - p.Arg417Trp (Ensembl:ENST00000324219) - c.1249C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097441424 | 418 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101855996A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101855996A>G Locations: - p.Glu418Gly (Ensembl:ENST00000324219) - c.1253A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1231263139 | 420 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856002G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856002G>A Locations: - p.Arg420Lys (Ensembl:ENST00000324219) - c.1259G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1281111984 | 421 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101856005G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856005G>A Locations: - p.Arg421Lys (Ensembl:ENST00000324219) - c.1262G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097441767 | 423 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856010C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856010C>A Locations: - p.Gln423Lys (Ensembl:ENST00000324219) - c.1267C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1351105434 | 423 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856011A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856011A>G Locations: - p.Gln423Arg (Ensembl:ENST00000324219) - c.1268A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336494 | 425 | R>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101856016C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101856016C>T Locations: - p.Arg425Cys (cosmic curated:ENST00000324219) - c.1273C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1029683478 | 425 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856017G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856017G>A Locations: - p.Arg425His (Ensembl:ENST00000324219) - c.1274G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1559204080 | 426 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856020A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856020A>C Locations: - p.Glu426Ala (Ensembl:ENST00000324219) - c.1277A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097442048 | 427 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856024G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856024G>C Locations: - p.Gln427His (Ensembl:ENST00000324219) - c.1281G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340668 | 428 | R>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101856025C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101856025C>T Locations: - p.Arg428Ter (cosmic curated:ENST00000324219) - c.1282C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1282055770 | 428 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856026G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856026G>A Locations: - p.Arg428Gln (Ensembl:ENST00000324219) - c.1283G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097442167 | 430 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856032G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856032G>A Locations: - p.Arg430Lys (Ensembl:ENST00000324219) - c.1289G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097442167 | 430 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856032G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856032G>C Locations: - p.Arg430Thr (Ensembl:ENST00000324219) - c.1289G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097442250 | 432 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856037C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856037C>G Locations: - p.Gln432Glu (Ensembl:ENST00000324219) - c.1294C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs957597333 | 432 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101856038A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856038A>G Locations: - p.Gln432Arg (Ensembl:ENST00000324219) - c.1295A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097442362 | 433 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856041A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856041A>G Locations: - p.Glu433Gly (Ensembl:ENST00000324219) - c.1298A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1486695428 | 434 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856044A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856044A>G Locations: - p.Glu434Gly (Ensembl:ENST00000324219) - c.1301A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1211622113 | 436 | R>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856050G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856050G>T Locations: - p.Arg436Met (Ensembl:ENST00000324219) - c.1307G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153390 rs767937569 | 437 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00000646 (gnomAD) Accession: NC_000002.12:g.101856052C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856052C>T Locations: - p.R437C (NCI-TCGA:ENST00000324219) - p.Arg437Cys (Ensembl:ENST00000324219) - c.1309C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs368647388 | 437 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001939 (gnomAD) Accession: NC_000002.12:g.101856053G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856053G>A Locations: - p.R437H (NCI-TCGA:ENST00000324219) - p.Arg437His (Ensembl:ENST00000324219) - c.1310G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs368647388 | 437 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856053G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856053G>T Locations: - p.Arg437Leu (Ensembl:ENST00000324219) - c.1310G>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1184579294 | 438 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101856055C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856055C>G Locations: - p.Leu438Val (Ensembl:ENST00000324219) - c.1312C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097443035 | 439 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856059A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856059A>C Locations: - p.Glu439Ala (Ensembl:ENST00000324219) - c.1316A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325513 rs775996617 | 440 | E>D | cosmic curated 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000002.12:g.101856063G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856063G>T Locations: - p.Glu440Asp (Ensembl:ENST00000324219) - c.1320G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1449102621 | 441 | L>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856065T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856065T>C Locations: - p.Leu441Ser (Ensembl:ENST00000324219) - c.1322T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097443148 | 441 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101856064T>G Codon: TTG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856064T>G Locations: - p.Leu441Val (Ensembl:ENST00000324219) - c.1321T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs372525827 | 442 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856067G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856067G>C Locations: - p.Glu442Gln (Ensembl:ENST00000324219) - c.1324G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1157407232 | 445 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856076C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856076C>T Locations: - p.Arg445Cys (Ensembl:ENST00000324219) - c.1333C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV106059698 rs1327661985 | 445 | R>H | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101856077G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856077G>A Locations: - p.Arg445His (Ensembl:ENST00000324219) - c.1334G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1367170897 | 448 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856085G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856085G>C Locations: - p.Glu448Gln (Ensembl:ENST00000324219) - c.1342G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097444095 | 450 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000002.12:g.101856093G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856093G>C Locations: - p.Glu450Asp (Ensembl:ENST00000324219) - c.1350G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097443971 | 450 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856092A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856092A>G Locations: - p.Glu450Gly (Ensembl:ENST00000324219) - c.1349A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1374287992 | 451 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856095G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856095G>A Locations: - p.Arg451Lys (Ensembl:ENST00000324219) - c.1352G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1374287992 | 451 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856095G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856095G>C Locations: - p.Arg451Thr (Ensembl:ENST00000324219) - c.1352G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097444306 | 452 | R>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856098G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856098G>C Locations: - p.Arg452Thr (Ensembl:ENST00000324219) - c.1355G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392289 | 453 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101856101G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101856101G>T Locations: - p.Arg453Leu (cosmic curated:ENST00000324219) - c.1358G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56341696 rs2097444416 | 453 | R>Q | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101856101G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856101G>A Locations: - p.Arg453Gln (Ensembl:ENST00000324219) - c.1358G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1330457134 | 453 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856100C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856100C>T Locations: - p.Arg453Trp (Ensembl:ENST00000324219) - c.1357C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1336196586 | 454 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856103G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856103G>A Locations: - p.Ala454Thr (Ensembl:ENST00000324219) - c.1360G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097444603 | 458 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101856115A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856115A>G Locations: - p.Lys458Glu (Ensembl:ENST00000324219) - c.1372A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1356633633 | 459 | R>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856119G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856119G>T Locations: - p.Arg459Met (Ensembl:ENST00000324219) - c.1376G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1356633633 | 459 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856119G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856119G>C Locations: - p.Arg459Thr (Ensembl:ENST00000324219) - c.1376G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1349910399 | 460 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856121A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856121A>G Locations: - p.Arg460Gly (Ensembl:ENST00000324219) - c.1378A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs528810915 | 461 | V>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856125T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856125T>A Locations: - p.Val461Asp (Ensembl:ENST00000324219) - c.1382T>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1235163121 | 461 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856124G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856124G>A Locations: - p.Val461Ile (Ensembl:ENST00000324219) - c.1381G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097445402 | 464 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101856133G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856133G>A Locations: - p.Glu464Lys (Ensembl:ENST00000324219) - c.1390G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs928706650 | 464 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101856134A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101856134A>T Locations: - p.Glu464Val (Ensembl:ENST00000324219) - c.1391A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs992606913 | 468 | I>S | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101859003T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859003T>G Locations: - p.Ile468Ser (Ensembl:ENST00000324219) - c.1403T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs758121433 | 468 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859002A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859002A>G Locations: - p.Ile468Val (Ensembl:ENST00000324219) - c.1402A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56329096 rs1229619992 | 470 | R>* | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101859008C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859008C>T Locations: - p.Arg470Ter (Ensembl:ENST00000324219) - c.1408C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340606 | 470 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101859009G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101859009G>T Locations: - p.Arg470Leu (cosmic curated:ENST00000324219) - c.1409G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56335951 rs1182995037 | 470 | R>Q | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101859009G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859009G>A Locations: - p.Arg470Gln (Ensembl:ENST00000324219) - c.1409G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs917926668 | 471 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859013G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859013G>C Locations: - p.Gln471His (Ensembl:ENST00000324219) - c.1413G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1252124092 | 472 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101859014C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859014C>G Locations: - p.Leu472Val (Ensembl:ENST00000324219) - c.1414C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100156213 | 473 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101859017G>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859017G>C Locations: - p.E473Q (NCI-TCGA:ENST00000324219) - p.Glu473Gln (cosmic curated:ENST00000324219) - c.1417G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56326751 COSV56336108 | 477 | R>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101859030G>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859030G>C Locations: - p.R477P (NCI-TCGA:ENST00000324219) - p.Arg477Pro (cosmic curated:ENST00000324219) - c.1430G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56326751 COSV56336108 rs980383229 | 477 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.000008045 (gnomAD) Accession: NC_000002.12:g.101859030G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859030G>A Locations: - p.R477Q (NCI-TCGA:ENST00000324219) - p.Arg477Gln (Ensembl:ENST00000324219) - c.1430G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs746600320 | 477 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859029C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859029C>T Locations: - p.Arg477Trp (Ensembl:ENST00000324219) - c.1429C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs770192457 | 478 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859032C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859032C>T Locations: - p.His478Tyr (Ensembl:ENST00000324219) - c.1432C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1206079818 | 479 | L>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859036T>G Codon: TTG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859036T>G Locations: - p.Leu479Trp (Ensembl:ENST00000324219) - c.1436T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105122881 rs780708201 | 481 | V>I | Likely benign (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000002.12:g.101859041G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859041G>A Locations: - p.Val481Ile (Ensembl:ENST00000324219) - c.1441G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs749626652 | 482 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859044C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859044C>T Locations: - p.Leu482Phe (Ensembl:ENST00000324219) - c.1444C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1261941474 | 483 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859048A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859048A>G Locations: - p.Gln483Arg (Ensembl:ENST00000324219) - c.1448A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1241842237 | 485 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859055G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859055G>C Locations: - p.Gln485His (Ensembl:ENST00000324219) - c.1455G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs774902440 | 485 | Q>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859053C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859053C>A Locations: - p.Gln485Lys (Ensembl:ENST00000324219) - c.1453C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097558493 | 486 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859056C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859056C>G Locations: - p.Leu486Val (Ensembl:ENST00000324219) - c.1456C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097558526 | 487 | L>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859059C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859059C>A Locations: - p.Leu487Ile (Ensembl:ENST00000324219) - c.1459C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097558626 | 488 | Q>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859063A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859063A>C Locations: - p.Gln488Pro (Ensembl:ENST00000324219) - c.1463A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154667 | 491 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101859072C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859072C>T Locations: - p.A491V (NCI-TCGA:ENST00000324219) - p.Ala491Val (cosmic curated:ENST00000324219) - c.1472C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1165774053 | 494 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859081T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859081T>C Locations: - p.Leu494Pro (Ensembl:ENST00000324219) - c.1481T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1295360049 | 496 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.813) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101859646T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859646T>C Locations: - p.Cys496Arg (Ensembl:ENST00000324219) - c.1486T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1356278858 | 496 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.101859647G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859647G>A Locations: - p.Cys496Tyr (Ensembl:ENST00000324219) - c.1487G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1002037530 | 497 | R>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101859649C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859649C>T Locations: - p.Arg497Ter (Ensembl:ENST00000324219) - c.1489C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340169 rs772128002 | 497 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.475) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000008452 (gnomAD) Accession: NC_000002.12:g.101859650G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859650G>A Locations: - p.Arg497Gln (Ensembl:ENST00000324219) - c.1490G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1319086884 | 498 | W>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859653G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859653G>C Locations: - p.Trp498Ser (Ensembl:ENST00000324219) - c.1493G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs374370469 | 499 | R>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859656G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859656G>C Locations: - p.Arg499Pro (Ensembl:ENST00000324219) - c.1496G>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs374370469 | 499 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859656G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859656G>A Locations: - p.Arg499Gln (Ensembl:ENST00000324219) - c.1496G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs773487036 | 499 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859655C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859655C>T Locations: - p.Arg499Trp (Ensembl:ENST00000324219) - c.1495C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs771021805 | 500 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859659A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859659A>C Locations: - p.Glu500Ala (Ensembl:ENST00000324219) - c.1499A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1485772173 | 501 | M>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859662T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859662T>A Locations: - p.Met501Lys (Ensembl:ENST00000324219) - c.1502T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1485772173 | 501 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.144) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859662T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859662T>C Locations: - p.Met501Thr (Ensembl:ENST00000324219) - c.1502T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs776742471 | 501 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101859661A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859661A>G Locations: - p.Met501Val (Ensembl:ENST00000324219) - c.1501A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs759441532 | 503 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859669G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859669G>T Locations: - p.Glu503Asp (Ensembl:ENST00000324219) - c.1509G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1317950719 | 503 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.347) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859667G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859667G>A Locations: - p.Glu503Lys (Ensembl:ENST00000324219) - c.1507G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097578460 | 505 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859674G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859674G>A Locations: - p.Arg505Gln (Ensembl:ENST00000324219) - c.1514G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs765227761 | 505 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859673C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859673C>T Locations: - p.Arg505Trp (Ensembl:ENST00000324219) - c.1513C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1159749928 | 506 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859676C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859676C>A Locations: - p.Gln506Lys (Ensembl:ENST00000324219) - c.1516C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1363096219 | 506 | Q>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859677A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859677A>T Locations: - p.Gln506Leu (Ensembl:ENST00000324219) - c.1517A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097578732 | 507 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.925) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859680C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859680C>T Locations: - p.Ala507Val (Ensembl:ENST00000324219) - c.1520C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1417958339 | 508 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859682G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859682G>C Locations: - p.Glu508Gln (Ensembl:ENST00000324219) - c.1522G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1314781056 | 511 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859692A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859692A>T Locations: - p.Gln511Leu (Ensembl:ENST00000324219) - c.1532A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097578890 | 512 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.635) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859694A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859694A>G Locations: - p.Arg512Gly (Ensembl:ENST00000324219) - c.1534A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337664 | 512 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101859789G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101859789G>T Locations: - p.Gln512His (cosmic curated:ENST00000324219) - c.1536G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs762823145 | 512 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859696G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859696G>T Locations: - p.Arg512Ser (Ensembl:ENST00000324219) - c.1536G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs992712884 | 513 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101859697C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859697C>T Locations: - p.Gln513Ter (Ensembl:ENST00000324219) - c.1537C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs763610307 | 513 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859699G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859699G>T Locations: - p.Gln513His (Ensembl:ENST00000324219) - c.1539G>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs377671536 | 515 | Q>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859703C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859703C>G Locations: - p.Gln515Glu (Ensembl:ENST00000324219) - c.1543C>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56324771 | 515 | R>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101859797G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859797G>T Locations: - p.R515M (NCI-TCGA:ENST00000324219) - p.Arg515Met (cosmic curated:ENST00000324219) - c.1544G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097579373 | 517 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.49) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859710A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859710A>C Locations: - p.Glu517Ala (Ensembl:ENST00000324219) - c.1550A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs767102279 | 517 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.798) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859709G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859709G>A Locations: - p.Glu517Lys (Ensembl:ENST00000324219) - c.1549G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs866900799 | 518 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101859712C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859712C>A Locations: - p.Gln518Lys (Ensembl:ENST00000324219) - c.1552C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1306934464 | 518 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859713A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859713A>G Locations: - p.Gln518Arg (Ensembl:ENST00000324219) - c.1553A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392297 rs761550452 | 519 | S>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated - low confidence (0.08) Somatic: Yes Accession: NC_000002.12:g.101859809G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859809G>A Locations: - p.Ser519Asn (cosmic curated:ENST00000324219) - c.1556G>A (cosmic curated:ENST00000324219) - p.Ser550Asn (Ensembl:ENST00000324219) - c.1649G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097579544 | 519 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859715G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859715G>C Locations: - p.Ala519Pro (Ensembl:ENST00000324219) - c.1555G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1228474024 | 519 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859716C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859716C>T Locations: - p.Ala519Val (Ensembl:ENST00000324219) - c.1556C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1281902801 | 520 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859719A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859719A>G Locations: - p.Tyr520Cys (Ensembl:ENST00000324219) - c.1559A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1237365488 | 520 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101859718T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859718T>C Locations: - p.Tyr520His (Ensembl:ENST00000324219) - c.1558T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1347956000 | 522 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859725T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859725T>C Locations: - p.Leu522Pro (Ensembl:ENST00000324219) - c.1565T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1209791165 | 523 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859728C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859728C>G Locations: - p.Ser523Cys (Ensembl:ENST00000324219) - c.1568C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1209791165 | 523 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859728C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859728C>T Locations: - p.Ser523Phe (Ensembl:ENST00000324219) - c.1568C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100156053 rs760266370 | 524 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001245 (gnomAD) Accession: NC_000002.12:g.101859823G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859823G>A Locations: - p.E524K (NCI-TCGA:ENST00000324219) - p.Glu524Lys (cosmic curated:ENST00000324219) - c.1570G>A (cosmic curated:ENST00000324219) - p.Glu555Lys (Ensembl:ENST00000324219) - c.1663G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2097579963 | 526 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859736C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859736C>T Locations: - p.His526Tyr (Ensembl:ENST00000324219) - c.1576C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1235317065 | 529 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.455) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859745A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859745A>G Locations: - p.Arg529Gly (Ensembl:ENST00000324219) - c.1585A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56328746 rs1214859627 | 530 | E>K | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.362) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101859841G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859841G>A Locations: - p.Glu530Lys (cosmic curated:ENST00000324219) - c.1588G>A (cosmic curated:ENST00000324219) - p.Glu561Lys (Ensembl:ENST00000324219) - c.1681G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs978627982 | 531 | P>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859752C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859752C>T Locations: - p.Pro531Leu (Ensembl:ENST00000324219) - c.1592C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1576920493 | 532 | H>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000002.12:g.101859755A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859755A>C Locations: - p.His532Pro (Ensembl:ENST00000324219) - c.1595A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1576920493 | 532 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101859755A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859755A>G Locations: - p.His532Arg (Ensembl:ENST00000324219) - c.1595A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs755526358 | 532 | H>Y | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.361) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859754C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859754C>T Locations: - p.His532Tyr (Ensembl:ENST00000324219) - c.1594C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs61741751 | 533 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000981162 (1000Genomes) Accession: NC_000002.12:g.101859758C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859758C>T Locations: - p.Pro533Leu (Ensembl:ENST00000324219) - c.1598C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs61741751 | 533 | P>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000981162 (1000Genomes) Accession: NC_000002.12:g.101859758C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859758C>G Locations: - p.Pro533Arg (Ensembl:ENST00000324219) - c.1598C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155003 | 533 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101859850G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101859850G>T Locations: - p.Asp533Tyr (cosmic curated:ENST00000324219) - c.1597G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
CA1806991 COSV56343700 RCV000656330 rs781410462 | 534 | R>Q | Cerebral arteriovenous malformation (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000002.12:g.101859854G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859854G>A Locations: - p.Arg534Gln (cosmic curated:ENST00000324219) - c.1601G>A (cosmic curated:ENST00000324219) - p.Arg565Gln (Ensembl:ENST00000324219) - c.1694G>A (Ensembl:ENST00000324219) Disease association: - Cerebral arteriovenous malformation (BAVM) Source type: large scale study | |||||||
rs2097580426 | 535 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101859764A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859764A>G Locations: - p.His535Arg (Ensembl:ENST00000324219) - c.1604A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336349 rs200603698 | 535 | A>V | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: tolerated - low confidence (0.06) Somatic: Yes Accession: NC_000002.12:g.101859857C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859857C>T Locations: - p.Ala535Val (cosmic curated:ENST00000324219) - c.1604C>T (cosmic curated:ENST00000324219) - p.Ala566Val (Ensembl:ENST00000324219) - c.1697C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV100155587 rs2097582436 | 536 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101859859C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859859C>T Locations: - p.R536* (NCI-TCGA:ENST00000324219) - p.Arg536Ter (cosmic curated:ENST00000324219) - c.1606C>T (cosmic curated:ENST00000324219) - p.Arg567Ter (Ensembl:ENST00000324219) - c.1699C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs758823238 | 536 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.101859767C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859767C>T Locations: - p.Ser536Leu (Ensembl:ENST00000324219) - c.1607C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1395835503 | 536 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000002.12:g.101859766T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859766T>C Locations: - p.Ser536Pro (Ensembl:ENST00000324219) - c.1606T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1395835503 | 536 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.362) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101859766T>A Codon: TCG/ACG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859766T>A Locations: - p.Ser536Thr (Ensembl:ENST00000324219) - c.1606T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs771183594 | 537 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101859770A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859770A>G Locations: - p.Gln537Arg (Ensembl:ENST00000324219) - c.1610A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56339601 | 537 | E>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101859863A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101859863A>T Locations: - p.Glu537Val (cosmic curated:ENST00000324219) - c.1610A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs776691332 | 538 | Q>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101859772C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859772C>A Locations: - p.Gln538Lys (Ensembl:ENST00000324219) - c.1612C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337596 | 538 | V>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101863821G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101863821G>C Locations: - p.Val538Leu (cosmic curated:ENST00000324219) - c.1612G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs949605261 | 539 | P>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101859776C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859776C>T Locations: - p.Pro539Leu (Ensembl:ENST00000324219) - c.1616C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs775505116 | 540 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000002.12:g.101859778C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859778C>A Locations: - p.Pro540Thr (Ensembl:ENST00000324219) - c.1618C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1293177076 | 541 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000002.12:g.101859782C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859782C>T Locations: - p.Pro541Leu (Ensembl:ENST00000324219) - c.1622C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1232849580 | 542 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859785C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859785C>T Locations: - p.Pro542Leu (Ensembl:ENST00000324219) - c.1625C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1308849887 | 543 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859788A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859788A>T Locations: - p.Gln543Leu (Ensembl:ENST00000324219) - c.1628A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1204736633 | 545 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.267) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859793G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859793G>A Locations: - p.Glu545Lys (Ensembl:ENST00000324219) - c.1633G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1456270801 | 547 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000002.12:g.101859800G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859800G>A Locations: - p.Ser547Asn (Ensembl:ENST00000324219) - c.1640G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1456270801 | 547 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.101859800G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859800G>C Locations: - p.Ser547Thr (Ensembl:ENST00000324219) - c.1640G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1214860902 | 548 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859804G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859804G>T Locations: - p.Lys548Asn (Ensembl:ENST00000324219) - c.1644G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155513 rs61741756 | 549 | N>S | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.16) Somatic: Yes Accession: NC_000002.12:g.101863855A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863855A>G Locations: - p.Asn549Ser (cosmic curated:ENST00000324219) - c.1646A>G (cosmic curated:ENST00000324219) - p.Asn634Ser (Ensembl:ENST00000324219) - c.1901A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1183008473 | 550 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000002.12:g.101859808A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859808A>G Locations: - p.Ser550Gly (Ensembl:ENST00000324219) - c.1648A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs761550452 | 550 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101859809G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859809G>T Locations: - p.Ser550Ile (Ensembl:ENST00000324219) - c.1649G>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1453887818 | 551 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000002.12:g.101859813C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859813C>G Locations: - p.Phe551Leu (Ensembl:ENST00000324219) - c.1653C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392121 | 552 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101863864C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101863864C>T Locations: - p.Pro552Leu (cosmic curated:ENST00000324219) - c.1655C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs994446124 | 552 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859816T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859816T>A Locations: - p.His552Gln (Ensembl:ENST00000324219) - c.1656T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs767335538 | 552 | H>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.513) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859815A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859815A>G Locations: - p.His552Arg (Ensembl:ENST00000324219) - c.1655A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1421954826 | 553 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.101859818C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859818C>T Locations: - p.Ala553Val (Ensembl:ENST00000324219) - c.1658C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097581534 | 554 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101859820C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859820C>T Locations: - p.Pro554Ser (Ensembl:ENST00000324219) - c.1660C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56333403 rs752768892 | 555 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.659) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101863873G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863873G>A Locations: - p.Arg555Gln (cosmic curated:ENST00000324219) - c.1664G>A (cosmic curated:ENST00000324219) - p.Arg640Gln (Ensembl:ENST00000324219) - c.1919G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1456317299 | 556 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859826C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859826C>G Locations: - p.Pro556Ala (Ensembl:ENST00000324219) - c.1666C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs765621970 | 556 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.571) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101859827C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859827C>T Locations: - p.Pro556Leu (Ensembl:ENST00000324219) - c.1667C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336874 | 556 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101863876C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101863876C>A Locations: - p.Ser556Tyr (cosmic curated:ENST00000324219) - c.1667C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105123029 | 557 | H>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101863880T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101863880T>G Locations: - p.His557Gln (cosmic curated:ENST00000324219) - c.1671T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337158 | 558 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101863882C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101863882C>T Locations: - p.Ser558Phe (cosmic curated:ENST00000324219) - c.1673C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1435165510 | 559 | H>L | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101859836A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859836A>T Locations: - p.His559Leu (Ensembl:ENST00000324219) - c.1676A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1272607935 | 559 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000002.12:g.101859837C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859837C>A Locations: - p.His559Gln (Ensembl:ENST00000324219) - c.1677C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1435165510 | 559 | H>R | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.362) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859836A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859836A>G Locations: - p.His559Arg (Ensembl:ENST00000324219) - c.1676A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097581846 | 559 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859835C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859835C>T Locations: - p.His559Tyr (Ensembl:ENST00000324219) - c.1675C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1436345005 | 560 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.859) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859839A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859839A>G Locations: - p.Tyr560Cys (Ensembl:ENST00000324219) - c.1679A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2149831994 | 561 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.188) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859842A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859842A>C Locations: - p.Glu561Ala (Ensembl:ENST00000324219) - c.1682A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1214859627 | 561 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859841G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859841G>C Locations: - p.Glu561Gln (Ensembl:ENST00000324219) - c.1681G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1277179879 COSV104534464 | 562 | P>H | gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101859845C>A, NC_000002.12:g.101863894C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859845C>A, NC_000002.12:g.101863894C>A Locations: - p.Pro562His (Ensembl:ENST00000324219) - c.1685C>A (Ensembl:ENST00000324219) - p.Pro562His (cosmic curated:ENST00000324219) - c.1685C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1277179879 COSV99043062 | 562 | P>L | gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000002.12:g.101859845C>T, NC_000002.12:g.101863894C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859845C>T, NC_000002.12:g.101863894C>T Locations: - p.Pro562Leu (Ensembl:ENST00000324219) - c.1685C>T (Ensembl:ENST00000324219) - p.Pro562Leu (cosmic curated:ENST00000324219) - c.1685C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56333822 | 563 | S>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101863897C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101863897C>G Locations: - p.Ser563Cys (cosmic curated:ENST00000324219) - c.1688C>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097582149 | 564 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated - low confidence (0.67) Somatic: No Accession: NC_000002.12:g.101859852C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859852C>A Locations: - p.Asp564Glu (Ensembl:ENST00000324219) - c.1692C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs751991039 | 565 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859853C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859853C>G Locations: - p.Arg565Gly (Ensembl:ENST00000324219) - c.1693C>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs781410462 | 565 | R>L | Likely pathogenic (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859854G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859854G>T Locations: - p.Arg565Leu (Ensembl:ENST00000324219) - c.1694G>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV107392337 | 567 | A>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101863908G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101863908G>C Locations: - p.Ala567Pro (cosmic curated:ENST00000324219) - c.1699G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs564269420 | 567 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101859860G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859860G>A Locations: - p.Arg567Gln (Ensembl:ENST00000324219) - c.1700G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1270018587 | 568 | E>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859863A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859863A>C Locations: - p.Glu568Ala (Ensembl:ENST00000324219) - c.1703A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1270018587 | 568 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101859863A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101859863A>G Locations: - p.Glu568Gly (Ensembl:ENST00000324219) - c.1703A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56324953 | 569 | H>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101863915A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101863915A>C Locations: - p.His569Pro (cosmic curated:ENST00000324219) - c.1706A>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs758984866 | 572 | R>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.594) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860835G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860835G>C Locations: - p.Arg572Thr (Ensembl:ENST00000324219) - c.1715G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1393767712 | 573 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000002.12:g.101860839T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860839T>G Locations: - p.Phe573Leu (Ensembl:ENST00000324219) - c.1719T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097629539 | 573 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860838T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860838T>C Locations: - p.Phe573Ser (Ensembl:ENST00000324219) - c.1718T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097629539 | 573 | F>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000002.12:g.101860838T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860838T>A Locations: - p.Phe573Tyr (Ensembl:ENST00000324219) - c.1718T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097629881 | 574 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.63) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860841G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860841G>A Locations: - p.Arg574Lys (Ensembl:ENST00000324219) - c.1721G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1576942433 | 576 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101860846A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860846A>C Locations: - p.Thr576Pro (Ensembl:ENST00000324219) - c.1726A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097630275 | 577 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860851C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860851C>G Locations: - p.Asn577Lys (Ensembl:ENST00000324219) - c.1731C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs764598259 | 578 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860853A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860853A>G Locations: - p.His578Arg (Ensembl:ENST00000324219) - c.1733A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1336101195 | 578 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860852C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860852C>T Locations: - p.His578Tyr (Ensembl:ENST00000324219) - c.1732C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs767832475 | 581 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860862C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860862C>A Locations: - p.Pro581His (Ensembl:ENST00000324219) - c.1742C>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs767832475 | 581 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860862C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860862C>T Locations: - p.Pro581Leu (Ensembl:ENST00000324219) - c.1742C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs762352729 | 581 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860861C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860861C>T Locations: - p.Pro581Ser (Ensembl:ENST00000324219) - c.1741C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56327384 rs370107925 | 581 | R>S | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.439) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101863950C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863950C>A Locations: - p.Arg581Ser (cosmic curated:ENST00000324219) - c.1741C>A (cosmic curated:ENST00000324219) - p.Arg666Ser (Ensembl:ENST00000324219) - c.1996C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs971061135 | 582 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860866A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860866A>C Locations: - p.Glu582Asp (Ensembl:ENST00000324219) - c.1746A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs750851531 | 583 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.63) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860868C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860868C>A Locations: - p.Ala583Asp (Ensembl:ENST00000324219) - c.1748C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097631501 | 584 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860872G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860872G>T Locations: - p.Gln584His (Ensembl:ENST00000324219) - c.1752G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs756344700 | 586 | K>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860877A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860877A>T Locations: - p.Lys586Met (Ensembl:ENST00000324219) - c.1757A>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1197745221 | 586 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.262) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101860878G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860878G>C Locations: - p.Lys586Asn (Ensembl:ENST00000324219) - c.1758G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1559226855 | 589 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.555) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000002.12:g.101860885G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860885G>A Locations: - p.Gly589Ser (Ensembl:ENST00000324219) - c.1765G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337133 | 592 | K>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101863983A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101863983A>G Locations: - p.Lys592Glu (cosmic curated:ENST00000324219) - c.1774A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs572481216 | 592 | L>M | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101860894T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860894T>A Locations: - p.Leu592Met (Ensembl:ENST00000324219) - c.1774T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs368035914 | 594 | P>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101860900C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860900C>T Locations: - p.Pro594Ser (Ensembl:ENST00000324219) - c.1780C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56338756 rs1300189807 | 595 | A>T | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated - low confidence (0.05) Somatic: Yes Accession: NC_000002.12:g.101863992G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863992G>A Locations: - p.Ala595Thr (cosmic curated:ENST00000324219) - c.1783G>A (cosmic curated:ENST00000324219) - p.Ala680Thr (Ensembl:ENST00000324219) - c.2038G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105876819 rs55937922 | 597 | D>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101863999A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863999A>T Locations: - p.Asp597Val (cosmic curated:ENST00000324219) - c.1790A>T (cosmic curated:ENST00000324219) - p.Asp682Val (Ensembl:ENST00000324219) - c.2045A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56338413 rs2097748105 | 599 | T>A | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.1) Somatic: Yes Accession: NC_000002.12:g.101864004A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864004A>G Locations: - p.Thr599Ala (cosmic curated:ENST00000324219) - c.1795A>G (cosmic curated:ENST00000324219) - p.Thr684Ala (Ensembl:ENST00000324219) - c.2050A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs371929766 | 599 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.594) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860916G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860916G>T Locations: - p.Arg599Leu (Ensembl:ENST00000324219) - c.1796G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs371929766 | 599 | R>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860916G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860916G>C Locations: - p.Arg599Pro (Ensembl:ENST00000324219) - c.1796G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325520 rs371929766 | 599 | R>Q | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101860916G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860916G>A Locations: - p.Arg599Gln (Ensembl:ENST00000324219) - c.1796G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56340797 | 601 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101864012G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101864012G>T Locations: - p.Lys601Asn (cosmic curated:ENST00000324219) - c.1803G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097633296 | 604 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860931C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860931C>G Locations: - p.Ser604Cys (Ensembl:ENST00000324219) - c.1811C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1301741891 | 604 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860930T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860930T>C Locations: - p.Ser604Pro (Ensembl:ENST00000324219) - c.1810T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs746840228 | 605 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.582) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860933A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860933A>G Locations: - p.Asn605Asp (Ensembl:ENST00000324219) - c.1813A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1464270892 | 605 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.101860934A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860934A>G Locations: - p.Asn605Ser (Ensembl:ENST00000324219) - c.1814A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337584 rs779643444 | 606 | S>L | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.661) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101864026C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864026C>T Locations: - p.Ser606Leu (cosmic curated:ENST00000324219) - c.1817C>T (cosmic curated:ENST00000324219) - p.Ser691Leu (Ensembl:ENST00000324219) - c.2072C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56341654 rs1169267800 | 606 | G>S | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.459) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101860936G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860936G>A Locations: - p.Gly606Ser (Ensembl:ENST00000324219) - c.1816G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1576944111 | 607 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860940A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860940A>C Locations: - p.Asn607Thr (Ensembl:ENST00000324219) - c.1820A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs866772412 | 608 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860943C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860943C>T Locations: - p.Ser608Phe (Ensembl:ENST00000324219) - c.1823C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56324218 | 608 | S>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101864033T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101864033T>G Locations: - p.Ser608Arg (cosmic curated:ENST00000324219) - c.1824T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1490984942 | 609 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.415) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101860947G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860947G>T Locations: - p.Glu609Asp (Ensembl:ENST00000324219) - c.1827G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs770562753 | 609 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860945G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860945G>A Locations: - p.Glu609Lys (Ensembl:ENST00000324219) - c.1825G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56327104 | 610 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101864037G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101864037G>A Locations: - p.Glu610Lys (cosmic curated:ENST00000324219) - c.1828G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs776155398 | 610 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.77) Somatic: No Accession: NC_000002.12:g.101860948T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860948T>C Locations: - p.Ser610Pro (Ensembl:ENST00000324219) - c.1828T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1266488586 | 610 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.463) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101860949C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860949C>A Locations: - p.Ser610Tyr (Ensembl:ENST00000324219) - c.1829C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1229481941 | 611 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860951G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860951G>C Locations: - p.Val611Leu (Ensembl:ENST00000324219) - c.1831G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1229481941 | 611 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101860951G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860951G>A Locations: - p.Val611Met (Ensembl:ENST00000324219) - c.1831G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1576944752 | 612 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated - low confidence (0.7) Somatic: No Accession: NC_000002.12:g.101860956T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860956T>A Locations: - p.His612Gln (Ensembl:ENST00000324219) - c.1836T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs745347561 | 612 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.101860955A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860955A>G Locations: - p.His612Arg (Ensembl:ENST00000324219) - c.1835A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs769213670 | 613 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.859) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860958C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860958C>A Locations: - p.Pro613His (Ensembl:ENST00000324219) - c.1838C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs769213670 | 613 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860958C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860958C>T Locations: - p.Pro613Leu (Ensembl:ENST00000324219) - c.1838C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1218835610 | 614 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860961C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860961C>A Locations: - p.Ala614Asp (Ensembl:ENST00000324219) - c.1841C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336367 rs181612739 | 614 | A>T | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.439) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101860960G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860960G>A Locations: - p.Ala614Thr (Ensembl:ENST00000324219) - c.1840G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1277385716 | 616 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864934C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864934C>T Locations: - p.P616L (NCI-TCGA:ENST00000324219) - p.Pro701Leu (Ensembl:ENST00000324219) - c.2102C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1270986332 | 618 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101860972C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860972C>G Locations: - p.Pro618Ala (Ensembl:ENST00000324219) - c.1852C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1339672347 | 619 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101860975G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860975G>C Locations: - p.Ala619Pro (Ensembl:ENST00000324219) - c.1855G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs201446088 | 619 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000002.12:g.101860976C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101860976C>T Locations: - p.Ala619Val (Ensembl:ENST00000324219) - c.1856C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV100156291 rs1315825866 | 622 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000005178 (gnomAD) Accession: NC_000002.12:g.101864951C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864951C>T Locations: - p.R622C (NCI-TCGA:ENST00000324219) - p.Arg622Cys (cosmic curated:ENST00000324219) - c.1864C>T (cosmic curated:ENST00000324219) - p.Arg707Cys (Ensembl:ENST00000324219) - c.2119C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56333320 rs370976722 | 622 | R>H | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101864952G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864952G>A Locations: - p.Arg622His (cosmic curated:ENST00000324219) - c.1865G>A (cosmic curated:ENST00000324219) - p.Arg707His (Ensembl:ENST00000324219) - c.2120G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs769498823 | 623 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863821G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863821G>A Locations: - p.Val623Ile (Ensembl:ENST00000324219) - c.1867G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1370805505 | 624 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863825A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863825A>G Locations: - p.Gln624Arg (Ensembl:ENST00000324219) - c.1871A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs376658983 | 626 | S>C | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863831C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863831C>G Locations: - p.Ser626Cys (Ensembl:ENST00000324219) - c.1877C>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs376658983 | 626 | S>F | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863831C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863831C>T Locations: - p.Ser626Phe (Ensembl:ENST00000324219) - c.1877C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs369505649 | 628 | L>V | ESP | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863836C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863836C>G Locations: - p.Leu628Val (Ensembl:ENST00000324219) - c.1882C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097740765 | 629 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863839G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863839G>C Locations: - p.Ala629Pro (Ensembl:ENST00000324219) - c.1885G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097740852 | 629 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863840C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863840C>T Locations: - p.Ala629Val (Ensembl:ENST00000324219) - c.1886C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs546802101 | 630 | S>Y | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101863843C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863843C>A Locations: - p.Ser630Tyr (Ensembl:ENST00000324219) - c.1889C>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs560478972 | 631 | L>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101863845C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863845C>G Locations: - p.Leu631Val (Ensembl:ENST00000324219) - c.1891C>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2097741432 | 633 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.742) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863853C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863853C>G Locations: - p.Asn633Lys (Ensembl:ENST00000324219) - c.1899C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs773621504 | 633 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.214) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863852A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863852A>G Locations: - p.Asn633Ser (Ensembl:ENST00000324219) - c.1898A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs771177701 | 635 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863857G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863857G>A Locations: - p.Val635Ile (Ensembl:ENST00000324219) - c.1903G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2149906492 | 636 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.546) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863861C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863861C>T Locations: - p.Ser636Phe (Ensembl:ENST00000324219) - c.1907C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56338922 | 638 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101864999C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101864999C>A Locations: - p.Gln638Lys (cosmic curated:ENST00000324219) - c.1912C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs765614867 | 639 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863870C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863870C>T Locations: - p.Ser639Leu (Ensembl:ENST00000324219) - c.1916C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2097742460 | 640 | R>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101863872C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863872C>T Locations: - p.Arg640Ter (Ensembl:ENST00000324219) - c.1918C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336629 rs917713319 | 642 | Q>E | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.594) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101865011C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865011C>G Locations: - p.Gln642Glu (cosmic curated:ENST00000324219) - c.1924C>G (cosmic curated:ENST00000324219) - p.Gln727Glu (Ensembl:ENST00000324219) - c.2179C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56335922 | 644 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101865018G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101865018G>A Locations: - p.Gly644Glu (cosmic curated:ENST00000324219) - c.1931G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336925 rs1355506766 | 644 | G>V | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101865018G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865018G>T Locations: - p.Gly644Val (cosmic curated:ENST00000324219) - c.1931G>T (cosmic curated:ENST00000324219) - p.Gly729Val (Ensembl:ENST00000324219) - c.2186G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097742712 | 644 | F>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863884T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863884T>G Locations: - p.Phe644Val (Ensembl:ENST00000324219) - c.1930T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1455326474 | 646 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863892C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863892C>G Locations: - p.Asp646Glu (Ensembl:ENST00000324219) - c.1938C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs984300495 | 647 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.351) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863893C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863893C>G Locations: - p.Pro647Ala (Ensembl:ENST00000324219) - c.1939C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097743176 | 648 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.477) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863897C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863897C>T Locations: - p.Ser648Phe (Ensembl:ENST00000324219) - c.1943C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097743293 | 649 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863899C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863899C>A Locations: - p.Pro649Thr (Ensembl:ENST00000324219) - c.1945C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1311238947 | 650 | K>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.362) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101863903A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863903A>T Locations: - p.Lys650Ile (Ensembl:ENST00000324219) - c.1949A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1311238947 | 650 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863903A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863903A>G Locations: - p.Lys650Arg (Ensembl:ENST00000324219) - c.1949A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56342888 | 651 | S>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866430G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866430G>T Locations: - p.Ser651Ile (cosmic curated:ENST00000324219) - c.1952G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs764086480 COSV56341568 | 652 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC gnomAD NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101863908G>T, NC_000002.12:g.101866433T>G Codon: GCA/TCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863908G>T, NC_000002.12:g.101866433T>G Locations: - p.Ala652Ser (Ensembl:ENST00000324219) - c.1954G>T (Ensembl:ENST00000324219) - p.I652S (NCI-TCGA:ENST00000324219) - p.Ile652Ser (cosmic curated:ENST00000324219) - c.1955T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329946 | 653 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866435G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866435G>C Locations: - p.Glu653Gln (cosmic curated:ENST00000324219) - c.1957G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325378 | 654 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866439C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866439C>A Locations: - p.Pro654His (cosmic curated:ENST00000324219) - c.1961C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs202035673 | 654 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863915A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863915A>G Locations: - p.His654Arg (Ensembl:ENST00000324219) - c.1961A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1003970756 | 654 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.537) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863914C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863914C>T Locations: - p.His654Tyr (Ensembl:ENST00000324219) - c.1960C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1240355684 | 655 | H>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863917C>G Codon: CAT/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863917C>G Locations: - p.His655Asp (Ensembl:ENST00000324219) - c.1963C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153569 | 655 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866442G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866442G>A Locations: - p.R655K (NCI-TCGA:ENST00000324219) - p.Arg655Lys (cosmic curated:ENST00000324219) - c.1964G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1286174346 | 657 | R>C | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863923C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863923C>T Locations: - p.Arg657Cys (Ensembl:ENST00000324219) - c.1969C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs751478495 | 657 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.471) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863924G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863924G>A Locations: - p.Arg657His (Ensembl:ENST00000324219) - c.1970G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs751478495 | 657 | R>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863924G>C Codon: CGT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863924G>C Locations: - p.Arg657Pro (Ensembl:ENST00000324219) - c.1970G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs757272406 | 658 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.733) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863927C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863927C>T Locations: - p.Ser658Phe (Ensembl:ENST00000324219) - c.1973C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2097744614 | 659 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863929C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863929C>G Locations: - p.Gln659Glu (Ensembl:ENST00000324219) - c.1975C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097744706 | 660 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863932G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863932G>A Locations: - p.Asp660Asn (Ensembl:ENST00000324219) - c.1978G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs780841544 | 662 | C>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.537) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101863938T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863938T>C Locations: - p.Cys662Arg (Ensembl:ENST00000324219) - c.1984T>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs750287423 | 662 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000002.12:g.101863939G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863939G>A Locations: - p.Cys662Tyr (Ensembl:ENST00000324219) - c.1985G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340806 | 664 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866469T>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866469T>C Locations: - p.L664P (NCI-TCGA:ENST00000324219) - p.Leu664Pro (cosmic curated:ENST00000324219) - c.1991T>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV108126096 | 665 | V>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866472T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866472T>A Locations: - p.Val665Glu (cosmic curated:ENST00000324219) - c.1994T>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs370107925 | 666 | R>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.859) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863950C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863950C>T Locations: - p.Arg666Cys (Ensembl:ENST00000324219) - c.1996C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs868664885 | 666 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863951G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863951G>A Locations: - p.Arg666His (Ensembl:ENST00000324219) - c.1997G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1379829666 | 667 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.559) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863953A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863953A>G Locations: - p.Ser667Gly (Ensembl:ENST00000324219) - c.1999A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs531511135 | 667 | S>N | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.582) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101863954G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863954G>A Locations: - p.Ser667Asn (Ensembl:ENST00000324219) - c.2000G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1379829666 | 667 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863953A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863953A>C Locations: - p.Ser667Arg (Ensembl:ENST00000324219) - c.1999A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs778533248 | 668 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863957A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863957A>C Locations: - p.Glu668Ala (Ensembl:ENST00000324219) - c.2003A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097745790 | 668 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863956G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863956G>C Locations: - p.Glu668Gln (Ensembl:ENST00000324219) - c.2002G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105876785 | 670 | S>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866487G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866487G>C Locations: - p.Ser670Thr (cosmic curated:ENST00000324219) - c.2009G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV108126107 | 671 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866489G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866489G>T Locations: - p.Gly671Cys (cosmic curated:ENST00000324219) - c.2011G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV108126156 | 671 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866490G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866490G>A Locations: - p.Gly671Asp (cosmic curated:ENST00000324219) - c.2012G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs776847776 | 671 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101863965A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863965A>G Locations: - p.Ser671Gly (Ensembl:ENST00000324219) - c.2011A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs776847776 | 671 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863965A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863965A>C Locations: - p.Ser671Arg (Ensembl:ENST00000324219) - c.2011A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097746453 | 674 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863975C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863975C>T Locations: - p.Ser674Phe (Ensembl:ENST00000324219) - c.2021C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs922609218 | 675 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101863979C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863979C>G Locations: - p.Asp675Glu (Ensembl:ENST00000324219) - c.2025C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs770077025 | 676 | S>Y | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101863981C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863981C>A Locations: - p.Ser676Tyr (Ensembl:ENST00000324219) - c.2027C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1386619464 | 679 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863990A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863990A>G Locations: - p.Glu679Gly (Ensembl:ENST00000324219) - c.2036A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392149 rs1386069517 | 679 | S>L | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101866514C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866514C>T Locations: - p.Ser679Leu (cosmic curated:ENST00000324219) - c.2036C>T (cosmic curated:ENST00000324219) - p.Ser764Leu (Ensembl:ENST00000324219) - c.2291C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs775888323 | 680 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.101863993C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863993C>T Locations: - p.Ala680Val (Ensembl:ENST00000324219) - c.2039C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097747608 | 681 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863995C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863995C>G Locations: - p.Pro681Ala (Ensembl:ENST00000324219) - c.2041C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1309167535 | 681 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863996C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863996C>G Locations: - p.Pro681Arg (Ensembl:ENST00000324219) - c.2042C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56338389 | 682 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866522C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866522C>T Locations: - p.Gln682Ter (cosmic curated:ENST00000324219) - c.2044C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs764233919 | 682 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101863998G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101863998G>C Locations: - p.Asp682His (Ensembl:ENST00000324219) - c.2044G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs761656153 | 684 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864005C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864005C>T Locations: - p.Thr684Ile (Ensembl:ENST00000324219) - c.2051C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155651 | 684 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866528G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866528G>T Locations: - p.Gly684Trp (cosmic curated:ENST00000324219) - c.2050G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs767497613 | 685 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864008A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864008A>G Locations: - p.Gln685Arg (Ensembl:ENST00000324219) - c.2054A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs755927152 | 686 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.29) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864010A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864010A>G Locations: - p.Lys686Glu (Ensembl:ENST00000324219) - c.2056A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56342023 | 686 | H>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866534C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866534C>A Locations: - p.His686Asn (cosmic curated:ENST00000324219) - c.2056C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155272 | 686 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866534C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866534C>T Locations: - p.His686Tyr (cosmic curated:ENST00000324219) - c.2056C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097748718 | 688 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101864017G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864017G>A Locations: - p.Trp688Ter (Ensembl:ENST00000324219) - c.2063G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56334255 | 688 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866540G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866540G>T Locations: - p.Gly688Trp (cosmic curated:ENST00000324219) - c.2062G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097748835 | 689 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864019T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864019T>C Locations: - p.Ser689Pro (Ensembl:ENST00000324219) - c.2065T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097748935 | 690 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.661) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101864022A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864022A>G Locations: - p.Arg690Gly (Ensembl:ENST00000324219) - c.2068A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs753458044 | 692 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864028G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864028G>C Locations: - p.Asp692His (Ensembl:ENST00000324219) - c.2074G>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1237428159 | 693 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864031A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864031A>G Locations: - p.Ser693Gly (Ensembl:ENST00000324219) - c.2077A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1049696786 | 693 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864032G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864032G>T Locations: - p.Ser693Ile (Ensembl:ENST00000324219) - c.2078G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097749527 | 694 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864035A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864035A>G Locations: - p.Asp694Gly (Ensembl:ENST00000324219) - c.2081A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097749416 | 694 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864034G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864034G>A Locations: - p.Asp694Asn (Ensembl:ENST00000324219) - c.2080G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56331834 rs776570846 | 694 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001205 (gnomAD) Accession: NC_000002.12:g.101866558G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866558G>A Locations: - p.G694R (NCI-TCGA:ENST00000324219) - p.Gly694Arg (cosmic curated:ENST00000324219) - c.2080G>A (cosmic curated:ENST00000324219) - p.Gly779Arg (Ensembl:ENST00000324219) - c.2335G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV105122918 TCGA novel | 695 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866561G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866561G>A Locations: - p.E695K (NCI-TCGA:ENST00000324219) - p.Glu695Lys (cosmic curated:ENST00000324219) - c.2083G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV56336969 rs369479508 | 696 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0000964 (gnomAD) Accession: NC_000002.12:g.101866564C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866564C>T Locations: - p.R696C (NCI-TCGA:ENST00000324219) - p.Arg696Cys (cosmic curated:ENST00000324219) - c.2086C>T (cosmic curated:ENST00000324219) - p.Arg781Cys (Ensembl:ENST00000324219) - c.2341C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV104534486 | 696 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101866565G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101866565G>T Locations: - p.Arg696Leu (cosmic curated:ENST00000324219) - c.2087G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1432873868 | 697 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864044C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864044C>T Locations: - p.Pro697Leu (Ensembl:ENST00000324219) - c.2090C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs778273085 | 697 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864043C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864043C>T Locations: - p.Pro697Ser (Ensembl:ENST00000324219) - c.2089C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs778273085 | 697 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864043C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864043C>A Locations: - p.Pro697Thr (Ensembl:ENST00000324219) - c.2089C>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1356711390 | 698 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864046C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864046C>G Locations: - p.Pro698Ala (Ensembl:ENST00000324219) - c.2092C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1277385716 | 701 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864934C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864934C>G Locations: - p.Pro701Arg (Ensembl:ENST00000324219) - c.2102C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs923848043 | 701 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864933C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864933C>T Locations: - p.Pro701Ser (Ensembl:ENST00000324219) - c.2101C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1209664902 | 703 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867218C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867218C>T Locations: - p.S703F (NCI-TCGA:ENST00000324219) - p.Ser788Phe (Ensembl:ENST00000324219) - c.2363C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2149928084 | 704 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864942A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864942A>G Locations: - p.Thr704Ala (Ensembl:ENST00000324219) - c.2110A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1294122098 | 704 | T>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864943C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864943C>A Locations: - p.Thr704Lys (Ensembl:ENST00000324219) - c.2111C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2149928147 | 705 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864945A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864945A>G Locations: - p.Thr705Ala (Ensembl:ENST00000324219) - c.2113A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs868040944 | 706 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864949C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864949C>A Locations: - p.Ser706Tyr (Ensembl:ENST00000324219) - c.2117C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1321212017 COSV105123025 | 709 | P>L | gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101864958C>T, NC_000002.12:g.101867236C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864958C>T, NC_000002.12:g.101867236C>T Locations: - p.Pro709Leu (Ensembl:ENST00000324219) - c.2126C>T (Ensembl:ENST00000324219) - p.Pro709Leu (cosmic curated:ENST00000324219) - c.2126C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337349 rs1179532178 | 710 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101867239C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867239C>G Locations: - p.S710C (NCI-TCGA:ENST00000324219) - p.Ser710Cys (cosmic curated:ENST00000324219) - c.2129C>G (cosmic curated:ENST00000324219) - p.Ser795Cys (Ensembl:ENST00000324219) - c.2384C>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV105122925 | 710 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101867239C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101867239C>T Locations: - p.Ser710Phe (cosmic curated:ENST00000324219) - c.2129C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105122926 | 711 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101867241C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101867241C>T Locations: - p.Gln711Ter (cosmic curated:ENST00000324219) - c.2131C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340814 rs768378384 | 712 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002113 (gnomAD) Accession: NC_000002.12:g.101867245G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867245G>A Locations: - p.R712H (NCI-TCGA:ENST00000324219) - p.Arg712His (cosmic curated:ENST00000324219) - c.2135G>A (cosmic curated:ENST00000324219) - p.Arg797His (Ensembl:ENST00000324219) - c.2390G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs56048147 | 712 | S>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101864966T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864966T>C Locations: - p.Ser712Pro (Ensembl:ENST00000324219) - c.2134T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs56048147 | 712 | S>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101864966T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864966T>A Locations: - p.Ser712Thr (Ensembl:ENST00000324219) - c.2134T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs753690528 | 713 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864969C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864969C>T Locations: - p.Arg713Cys (Ensembl:ENST00000324219) - c.2137C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs752991685 | 713 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864970G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864970G>A Locations: - p.Arg713His (Ensembl:ENST00000324219) - c.2138G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs752991685 | 713 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864970G>C Codon: CGT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864970G>C Locations: - p.Arg713Pro (Ensembl:ENST00000324219) - c.2138G>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs753690528 | 713 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864969C>A Codon: CGT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864969C>A Locations: - p.Arg713Ser (Ensembl:ENST00000324219) - c.2137C>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1261563308 | 714 | R>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101864972C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864972C>T Locations: - p.Arg714Ter (Ensembl:ENST00000324219) - c.2140C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs764946182 | 714 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864973G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864973G>C Locations: - p.Arg714Pro (Ensembl:ENST00000324219) - c.2141G>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs764946182 | 714 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864973G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864973G>A Locations: - p.Arg714Gln (Ensembl:ENST00000324219) - c.2141G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs752088917 | 716 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864979C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864979C>T Locations: - p.Ser716Phe (Ensembl:ENST00000324219) - c.2147C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2097845072 | 716 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000002.12:g.101867257C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867257C>T Locations: - p.A716V (NCI-TCGA:ENST00000324219) - p.Ala801Val (Ensembl:ENST00000324219) - c.2402C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1413639324 | 717 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864981C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864981C>T Locations: - p.Pro717Ser (Ensembl:ENST00000324219) - c.2149C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1231535758 | 718 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864985T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864985T>G Locations: - p.Leu718Arg (Ensembl:ENST00000324219) - c.2153T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs781509074 | 719 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864989G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864989G>C Locations: - p.Gln719His (Ensembl:ENST00000324219) - c.2157G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1162135551 | 719 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864988A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864988A>G Locations: - p.Gln719Arg (Ensembl:ENST00000324219) - c.2156A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1400294694 | 720 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.624) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864990G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864990G>C Locations: - p.Gly720Arg (Ensembl:ENST00000324219) - c.2158G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs570243828 | 721 | S>G | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000002.12:g.101864993A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864993A>G Locations: - p.Ser721Gly (Ensembl:ENST00000324219) - c.2161A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56339523 | 721 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101867271G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867271G>A Locations: - p.E721K (NCI-TCGA:ENST00000324219) - p.Glu721Lys (cosmic curated:ENST00000324219) - c.2161G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs746342350 | 721 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864995T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864995T>G Locations: - p.Ser721Arg (Ensembl:ENST00000324219) - c.2163T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097772681 | 722 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101864996G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101864996G>A Locations: - p.Gly722Arg (Ensembl:ENST00000324219) - c.2164G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs756730726 | 724 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101865004G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865004G>C Locations: - p.Gln724His (Ensembl:ENST00000324219) - c.2172G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097772781 | 726 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101865008A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865008A>G Locations: - p.Ser726Gly (Ensembl:ENST00000324219) - c.2176A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs867003204 | 726 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.868) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101865009G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865009G>T Locations: - p.Ser726Ile (Ensembl:ENST00000324219) - c.2177G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1284733047 | 728 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101865015C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865015C>A Locations: - p.Ala728Glu (Ensembl:ENST00000324219) - c.2183C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1427261797 | 728 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.101865014G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865014G>A Locations: - p.Ala728Thr (Ensembl:ENST00000324219) - c.2182G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56326563 rs760084118 | 729 | P>S | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101867295C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867295C>T Locations: - p.Pro729Ser (cosmic curated:ENST00000324219) - c.2185C>T (cosmic curated:ENST00000324219) - p.Pro814Ser (Ensembl:ENST00000324219) - c.2440C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1226512194 | 730 | Q>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.777) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101865021A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865021A>T Locations: - p.Gln730Leu (Ensembl:ENST00000324219) - c.2189A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1226512194 | 730 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101865021A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865021A>G Locations: - p.Gln730Arg (Ensembl:ENST00000324219) - c.2189A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1288321465 | 732 | N>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101865027A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865027A>T Locations: - p.Asn732Ile (Ensembl:ENST00000324219) - c.2195A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs947813206 | 732 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101865028C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865028C>G Locations: - p.Asn732Lys (Ensembl:ENST00000324219) - c.2196C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2149929205 | 733 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101865030C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865030C>T Locations: - p.Ser733Phe (Ensembl:ENST00000324219) - c.2198C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1320343278 | 734 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101865032A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101865032A>G Locations: - p.Thr734Ala (Ensembl:ENST00000324219) - c.2200A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392116 | 734 | V>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101867310G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101867310G>C Locations: - p.Val734Leu (cosmic curated:ENST00000324219) - c.2200G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1027452840 | 737 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.101866432A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866432A>G Locations: - p.Ile737Val (Ensembl:ENST00000324219) - c.2209A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097820043 | 739 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866439C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866439C>T Locations: - p.Pro739Leu (Ensembl:ENST00000324219) - c.2216C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs760592600 COSV100155870 | 739 | P>S | ExAC gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000002.12:g.101866438C>T, NC_000002.12:g.101869628A>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866438C>T, NC_000002.12:g.101869628A>T Locations: - p.Pro739Ser (Ensembl:ENST00000324219) - c.2215C>T (Ensembl:ENST00000324219) - p.Thr739Ser (cosmic curated:ENST00000324219) - c.2215A>T (cosmic curated:ENST00000324219) Source type: large scale study | |||||||
rs766369975 | 740 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866443G>C Codon: AGG/AGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866443G>C Locations: - p.Arg740Ser (Ensembl:ENST00000324219) - c.2220G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56339293 rs199996114 | 740 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001241 (gnomAD) Accession: NC_000002.12:g.101869631G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869631G>A Locations: - p.A740T (NCI-TCGA:ENST00000324219) - p.Ala740Thr (cosmic curated:ENST00000324219) - c.2218G>A (cosmic curated:ENST00000324219) - p.Ala825Thr (Ensembl:ENST00000324219) - c.2473G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs976091014 | 742 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866448T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866448T>C Locations: - p.Leu742Pro (Ensembl:ENST00000324219) - c.2225T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097820266 | 743 | W>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.684) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866450T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866450T>G Locations: - p.Trp743Gly (Ensembl:ENST00000324219) - c.2227T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1377917013 | 744 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866453G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866453G>A Locations: - p.Glu744Lys (Ensembl:ENST00000324219) - c.2230G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs371633174 | 746 | V>M | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866459G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866459G>A Locations: - p.Val746Met (Ensembl:ENST00000324219) - c.2236G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105122812 rs559473846 | 746 | R>Q | cosmic curated 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.349) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101869650G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869650G>A Locations: - p.Arg746Gln (cosmic curated:ENST00000324219) - c.2237G>A (cosmic curated:ENST00000324219) - p.Arg831Gln (Ensembl:ENST00000324219) - c.2492G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs776341213 | 747 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.559) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866464G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866464G>C Locations: - p.Glu747Asp (Ensembl:ENST00000324219) - c.2241G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs201353278 | 751 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866474C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866474C>G Locations: - p.Pro751Ala (Ensembl:ENST00000324219) - c.2251C>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs201353278 | 751 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.482) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866474C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866474C>T Locations: - p.Pro751Ser (Ensembl:ENST00000324219) - c.2251C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56337425 rs758159304 | 752 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101869667C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869667C>T Locations: - p.Arg752Trp (cosmic curated:ENST00000324219) - c.2254C>T (cosmic curated:ENST00000324219) - p.Arg837Trp (Ensembl:ENST00000324219) - c.2509C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs758022791 | 753 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866481C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866481C>A Locations: - p.Pro753His (Ensembl:ENST00000324219) - c.2258C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs758022791 | 753 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866481C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866481C>G Locations: - p.Pro753Arg (Ensembl:ENST00000324219) - c.2258C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097820715 | 753 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866480C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866480C>T Locations: - p.Pro753Ser (Ensembl:ENST00000324219) - c.2257C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1400891216 | 754 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.521) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866484G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866484G>T Locations: - p.Gly754Val (Ensembl:ENST00000324219) - c.2261G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1445914892 | 757 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866492A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866492A>G Locations: - p.Ser757Gly (Ensembl:ENST00000324219) - c.2269A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153536 rs770671445 | 758 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.927) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001269 (gnomAD) Accession: NC_000002.12:g.101869686C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869686C>T Locations: - p.T758M (NCI-TCGA:ENST00000324219) - p.Thr758Met (cosmic curated:ENST00000324219) - c.2273C>T (cosmic curated:ENST00000324219) - p.Thr843Met (Ensembl:ENST00000324219) - c.2528C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs756626699 | 762 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866507A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866507A>G Locations: - p.Ser762Gly (Ensembl:ENST00000324219) - c.2284A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392305 | 762 | S>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101869698C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101869698C>T Locations: - p.Ser762Leu (cosmic curated:ENST00000324219) - c.2285C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1156959906 | 763 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.657) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866510A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866510A>G Locations: - p.Asn763Asp (Ensembl:ENST00000324219) - c.2287A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340846 | 763 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101869701-101869702CC>TT Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101869701-101869702CC>TT Locations: - p.Ser763Phe (cosmic curated:ENST00000324219) - c.2288_2289delinsTT (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097821243 | 763 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.678) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866512C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866512C>A Locations: - p.Asn763Lys (Ensembl:ENST00000324219) - c.2289C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1425821761 | 763 | N>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866511A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866511A>C Locations: - p.Asn763Thr (Ensembl:ENST00000324219) - c.2288A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097821300 | 764 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101866513T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866513T>C Locations: - p.Ser764Pro (Ensembl:ENST00000324219) - c.2290T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1183428678 | 765 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866517G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866517G>A Locations: - p.Gly765Glu (Ensembl:ENST00000324219) - c.2294G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340694 | 765 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101869706G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869706G>A Locations: - p.E765K (NCI-TCGA:ENST00000324219) - p.Glu765Lys (cosmic curated:ENST00000324219) - c.2293G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097821428 | 766 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866520C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866520C>T Locations: - p.Ser766Phe (Ensembl:ENST00000324219) - c.2297C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153543 rs2150018574 | 767 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101869713C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869713C>T Locations: - p.S767L (NCI-TCGA:ENST00000324219) - p.Ser767Leu (cosmic curated:ENST00000324219) - c.2300C>T (cosmic curated:ENST00000324219) - p.Ser852Leu (Ensembl:ENST00000324219) - c.2555C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs755404987 | 769 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866529G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866529G>C Locations: - p.Gly769Ala (Ensembl:ENST00000324219) - c.2306G>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs755404987 | 769 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866529G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866529G>A Locations: - p.Gly769Glu (Ensembl:ENST00000324219) - c.2306G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56328437 rs545368433 | 769 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002241 (gnomAD) Accession: NC_000002.12:g.101869719C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869719C>T Locations: - p.T769M (NCI-TCGA:ENST00000324219) - p.Thr769Met (cosmic curated:ENST00000324219) - c.2306C>T (cosmic curated:ENST00000324219) - p.Thr854Met (Ensembl:ENST00000324219) - c.2561C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs548736889 | 769 | G>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866528G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866528G>A Locations: - p.Gly769Arg (Ensembl:ENST00000324219) - c.2305G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs201828323 | 771 | H>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101866536C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866536C>G Locations: - p.His771Gln (Ensembl:ENST00000324219) - c.2313C>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1485801274 | 772 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866537C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866537C>T Locations: - p.Pro772Ser (Ensembl:ENST00000324219) - c.2314C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs772242495 | 773 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866541G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866541G>C Locations: - p.Gly773Ala (Ensembl:ENST00000324219) - c.2318G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153587 | 773 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101869730G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869730G>A Locations: - p.E773K (NCI-TCGA:ENST00000324219) - p.Glu773Lys (cosmic curated:ENST00000324219) - c.2317G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2149961036 | 773 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866540G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866540G>C Locations: - p.Gly773Arg (Ensembl:ENST00000324219) - c.2317G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs947540335 | 775 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869737A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869737A>G Locations: - p.D775G (NCI-TCGA:ENST00000324219) - p.Asp860Gly (Ensembl:ENST00000324219) - c.2579A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs534466891 | 775 | Q>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000002.12:g.101866548G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866548G>C Locations: - p.Gln775His (Ensembl:ENST00000324219) - c.2325G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs770796909 | 776 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866550G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866550G>A Locations: - p.Ser776Asn (Ensembl:ENST00000324219) - c.2327G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1322005562 | 777 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101866553G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866553G>T Locations: - p.Gly777Val (Ensembl:ENST00000324219) - c.2330G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105123044 rs759712021 | 778 | E>K | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.513) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101869745G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869745G>A Locations: - p.Glu778Lys (cosmic curated:ENST00000324219) - c.2332G>A (cosmic curated:ENST00000324219) - p.Glu863Lys (Ensembl:ENST00000324219) - c.2587G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs776570846 | 779 | G>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866558G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866558G>T Locations: - p.Gly779Trp (Ensembl:ENST00000324219) - c.2335G>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56339414 | 780 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101869751G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101869751G>A Locations: - p.Glu780Lys (cosmic curated:ENST00000324219) - c.2338G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1367108988 | 781 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866565G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866565G>A Locations: - p.Arg781His (Ensembl:ENST00000324219) - c.2342G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs765920465 | 783 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866570A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866570A>G Locations: - p.Arg783Gly (Ensembl:ENST00000324219) - c.2347A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100156322 | 783 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101869760G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101869760G>A Locations: - p.Asp783Asn (cosmic curated:ENST00000324219) - c.2347G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs769597443 | 783 | R>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866571G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866571G>C Locations: - p.Arg783Thr (Ensembl:ENST00000324219) - c.2348G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155397 | 784 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101869763G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101869763G>T Locations: - p.Glu784Ter (cosmic curated:ENST00000324219) - c.2350G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56339217 | 785 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101869767C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101869767C>T Locations: - p.Ser785Phe (cosmic curated:ENST00000324219) - c.2354C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs949478810 | 785 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.555) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866577G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866577G>A Locations: - p.Arg785Lys (Ensembl:ENST00000324219) - c.2354G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs949478810 | 785 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866577G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866577G>C Locations: - p.Arg785Thr (Ensembl:ENST00000324219) - c.2354G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs763902533 | 786 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101866579T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101866579T>C Locations: - p.Ser786Pro (Ensembl:ENST00000324219) - c.2356T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154918 | 787 | S>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101869773C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101869773C>A Locations: - p.Ser787Ter (cosmic curated:ENST00000324219) - c.2360C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs745792785 | 788 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867217T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867217T>C Locations: - p.Ser788Pro (Ensembl:ENST00000324219) - c.2362T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs769673892 | 790 | S>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867223T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867223T>G Locations: - p.Ser790Ala (Ensembl:ENST00000324219) - c.2368T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56339435 | 790 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101869781G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101869781G>A Locations: - p.Glu790Lys (cosmic curated:ENST00000324219) - c.2368G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1410317583 | 793 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867233C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867233C>G Locations: - p.Ser793Cys (Ensembl:ENST00000324219) - c.2378C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337874 rs1370847857 | 794 | A>V | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101869794C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869794C>T Locations: - p.Ala794Val (cosmic curated:ENST00000324219) - c.2381C>T (cosmic curated:ENST00000324219) - p.Ala879Val (Ensembl:ENST00000324219) - c.2636C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097844788 | 795 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867238T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867238T>C Locations: - p.Ser795Pro (Ensembl:ENST00000324219) - c.2383T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1356635744 | 796 | Q>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867242A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867242A>T Locations: - p.Gln796Leu (Ensembl:ENST00000324219) - c.2387A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1356635744 | 796 | Q>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101867242A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867242A>C Locations: - p.Gln796Pro (Ensembl:ENST00000324219) - c.2387A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs565727787 | 797 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101867244C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867244C>T Locations: - p.Arg797Cys (Ensembl:ENST00000324219) - c.2389C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs768378384 | 797 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867245G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867245G>T Locations: - p.Arg797Leu (Ensembl:ENST00000324219) - c.2390G>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56343113 | 797 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101870300C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101870300C>A Locations: - p.Ser797Tyr (cosmic curated:ENST00000324219) - c.2390C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1487853051 | 799 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867250G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867250G>C Locations: - p.Glu799Gln (Ensembl:ENST00000324219) - c.2395G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153208 | 800 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101870310G>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870310G>C Locations: - p.L800F (NCI-TCGA:ENST00000324219) - p.Leu800Phe (cosmic curated:ENST00000324219) - c.2400G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097845072 | 801 | A>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867257C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867257C>A Locations: - p.Ala801Glu (Ensembl:ENST00000324219) - c.2402C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097845037 | 801 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867256G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867256G>T Locations: - p.Ala801Ser (Ensembl:ENST00000324219) - c.2401G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1424381334 | 802 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.101867260T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867260T>C Locations: - p.Val802Ala (Ensembl:ENST00000324219) - c.2405T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs761601346 | 802 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101867259G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867259G>C Locations: - p.Val802Leu (Ensembl:ENST00000324219) - c.2404G>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1186739163 | 804 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867265A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867265A>C Locations: - p.Lys804Gln (Ensembl:ENST00000324219) - c.2410A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1159493538 | 805 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867269C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867269C>T Locations: - p.Pro805Leu (Ensembl:ENST00000324219) - c.2414C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56331014 rs372783884 | 805 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002827 (gnomAD) Accession: NC_000002.12:g.101870324C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870324C>T Locations: - p.T805M (NCI-TCGA:ENST00000324219) - p.Thr805Met (cosmic curated:ENST00000324219) - c.2414C>T (cosmic curated:ENST00000324219) - p.Thr890Met (Ensembl:ENST00000324219) - c.2669C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1159493538 | 805 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867269C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867269C>G Locations: - p.Pro805Arg (Ensembl:ENST00000324219) - c.2414C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs749961363 | 805 | P>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000002.12:g.101867268C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867268C>T Locations: - p.Pro805Ser (Ensembl:ENST00000324219) - c.2413C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs749961363 | 805 | P>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000002.12:g.101867268C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867268C>A Locations: - p.Pro805Thr (Ensembl:ENST00000324219) - c.2413C>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56342150 | 807 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101870330C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101870330C>A Locations: - p.Ser807Tyr (cosmic curated:ENST00000324219) - c.2420C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1360083921 | 808 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867277A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867277A>G Locations: - p.Lys808Glu (Ensembl:ENST00000324219) - c.2422A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1451854371 | 811 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101867287T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867287T>G Locations: - p.Val811Gly (Ensembl:ENST00000324219) - c.2432T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56332258 | 811 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101870343G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101870343G>T Locations: - p.Met811Ile (cosmic curated:ENST00000324219) - c.2433G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56327760 rs368954596 | 813 | V>A | cosmic curated ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.63) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101870348T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870348T>C Locations: - p.Val813Ala (cosmic curated:ENST00000324219) - c.2438T>C (cosmic curated:ENST00000324219) - p.Val898Ala (Ensembl:ENST00000324219) - c.2693T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs760084118 | 814 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867295C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867295C>A Locations: - p.Pro814Thr (Ensembl:ENST00000324219) - c.2440C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1174682556 | 815 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.541) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101867298C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867298C>T Locations: - p.Leu815Phe (Ensembl:ENST00000324219) - c.2443C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1396027633 | 818 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101867308C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101867308C>A Locations: - p.Ala818Asp (Ensembl:ENST00000324219) - c.2453C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs750470583 | 819 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101868030G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101868030G>A Locations: - p.Gly819Asp (Ensembl:ENST00000324219) - c.2456G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV100156296 | 819 | S>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101870365A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101870365A>C Locations: - p.Ser819Arg (cosmic curated:ENST00000324219) - c.2455A>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153439 | 820 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101870369A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101870369A>G Locations: - p.Glu820Gly (cosmic curated:ENST00000324219) - c.2459A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs780225062 | 820 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101868032G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101868032G>A Locations: - p.Glu820Lys (Ensembl:ENST00000324219) - c.2458G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV105122794 | 821 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101870371C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101870371C>T Locations: - p.Pro821Ser (cosmic curated:ENST00000324219) - c.2461C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs965449229 | 822 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869623A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869623A>G Locations: - p.Asp822Gly (Ensembl:ENST00000324219) - c.2465A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1353866065 | 822 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101869622G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869622G>A Locations: - p.Asp822Asn (Ensembl:ENST00000324219) - c.2464G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56327131 rs2150028294 | 822 | A>T | cosmic curated 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101870374G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870374G>A Locations: - p.Ala822Thr (cosmic curated:ENST00000324219) - c.2464G>A (cosmic curated:ENST00000324219) - p.Ala907Thr (Ensembl:ENST00000324219) - c.2719G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs965449229 | 822 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.553) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869623A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869623A>T Locations: - p.Asp822Val (Ensembl:ENST00000324219) - c.2465A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs767742784 | 823 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869626T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869626T>C Locations: - p.Leu823Pro (Ensembl:ENST00000324219) - c.2468T>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs767742784 | 823 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869626T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869626T>G Locations: - p.Leu823Arg (Ensembl:ENST00000324219) - c.2468T>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56331705 | 824 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101870380A>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870380A>G Locations: - p.T824A (NCI-TCGA:ENST00000324219) - p.Thr824Ala (cosmic curated:ENST00000324219) - c.2470A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs199996114 | 825 | A>P | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869631G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869631G>C Locations: - p.Ala825Pro (Ensembl:ENST00000324219) - c.2473G>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV100154619 | 825 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101870384C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101870384C>A Locations: - p.Pro825Gln (cosmic curated:ENST00000324219) - c.2474C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56334880 rs199996114 | 825 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101870383C>T, NC_000002.12:g.101869631G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870383C>T, NC_000002.12:g.101869631G>T Locations: - p.P825S (NCI-TCGA:ENST00000324219) - p.Pro825Ser (cosmic curated:ENST00000324219) - c.2473C>T (cosmic curated:ENST00000324219) - p.Ala825Ser (Ensembl:ENST00000324219) - c.2473G>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56335100 rs868505912 | 826 | S>F | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101870387C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870387C>T Locations: - p.Ser826Phe (cosmic curated:ENST00000324219) - c.2477C>T (cosmic curated:ENST00000324219) - p.Ser911Phe (Ensembl:ENST00000324219) - c.2732C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097921606 | 827 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869638C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869638C>G Locations: - p.Ala827Gly (Ensembl:ENST00000324219) - c.2480C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1333198693 | 827 | K>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870390A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870390A>T Locations: - p.K827M (NCI-TCGA:ENST00000324219) - p.Lys912Met (Ensembl:ENST00000324219) - c.2735A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs754896767 | 827 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869637G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869637G>A Locations: - p.Ala827Thr (Ensembl:ENST00000324219) - c.2479G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2150017898 | 828 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869640A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869640A>G Locations: - p.Lys828Glu (Ensembl:ENST00000324219) - c.2482A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1193442773 | 828 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.101869641A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869641A>G Locations: - p.Lys828Arg (Ensembl:ENST00000324219) - c.2483A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56328807 | 828 | E>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101870393A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101870393A>T Locations: - p.Glu828Val (cosmic curated:ENST00000324219) - c.2483A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs773558529 | 829 | E>D | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869645G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869645G>T Locations: - p.Glu829Asp (Ensembl:ENST00000324219) - c.2487G>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56339154 | 829 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101870395G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101870395G>A Locations: - p.Gly829Ser (cosmic curated:ENST00000324219) - c.2485G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56344500 rs374179839 | 833 | V>I | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101870407G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870407G>A Locations: - p.Val833Ile (cosmic curated:ENST00000324219) - c.2497G>A (cosmic curated:ENST00000324219) - p.Val918Ile (Ensembl:ENST00000324219) - c.2752G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56335191 | 833 | V>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101870407G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101870407G>C Locations: - p.Val833Leu (cosmic curated:ENST00000324219) - c.2497G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1182945610 | 834 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869659A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869659A>C Locations: - p.Glu834Ala (Ensembl:ENST00000324219) - c.2501A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1413892973 | 834 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101869660A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869660A>C Locations: - p.Glu834Asp (Ensembl:ENST00000324219) - c.2502A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1443416958 | 835 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.717) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869663T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869663T>A Locations: - p.Asp835Glu (Ensembl:ENST00000324219) - c.2505T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097921945 | 835 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869661G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869661G>C Locations: - p.Asp835His (Ensembl:ENST00000324219) - c.2503G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1161306865 | 836 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869664G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869664G>A Locations: - p.Val836Ile (Ensembl:ENST00000324219) - c.2506G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392275 | 836 | T>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101873647A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101873647A>T Locations: - p.Thr836Ser (cosmic curated:ENST00000324219) - c.2506A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs777661448 | 837 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869668G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869668G>A Locations: - p.Arg837Gln (Ensembl:ENST00000324219) - c.2510G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100156141 | 838 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101873654C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873654C>T Locations: - p.S838F (NCI-TCGA:ENST00000324219) - p.Ser838Phe (cosmic curated:ENST00000324219) - c.2513C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1450211671 | 839 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.375) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000002.12:g.101869674C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869674C>T Locations: - p.Pro839Leu (Ensembl:ENST00000324219) - c.2516C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1343203531 | 839 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869673C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869673C>T Locations: - p.Pro839Ser (Ensembl:ENST00000324219) - c.2515C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs190004512 | 840 | H>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.683) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101869678C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869678C>G Locations: - p.His840Gln (Ensembl:ENST00000324219) - c.2520C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097922600 | 841 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869679A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869679A>G Locations: - p.Lys841Glu (Ensembl:ENST00000324219) - c.2521A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56333618 | 841 | S>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101873663G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101873663G>T Locations: - p.Ser841Ile (cosmic curated:ENST00000324219) - c.2522G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1269891509 | 841 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869680A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869680A>G Locations: - p.Lys841Arg (Ensembl:ENST00000324219) - c.2522A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV106450406 | 844 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101873671C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101873671C>T Locations: - p.Gln844Ter (cosmic curated:ENST00000324219) - c.2530C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1216729695 | 844 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869690C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869690C>G Locations: - p.Asp844Glu (Ensembl:ENST00000324219) - c.2532C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs745381673 | 844 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869688G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869688G>A Locations: - p.Asp844Asn (Ensembl:ENST00000324219) - c.2530G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097922924 | 845 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869692A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869692A>G Locations: - p.Tyr845Cys (Ensembl:ENST00000324219) - c.2534A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325087 | 848 | S>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101873684C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101873684C>G Locations: - p.Ser848Cys (cosmic curated:ENST00000324219) - c.2543C>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2150018557 | 849 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869704G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869704G>A Locations: - p.Ser849Asn (Ensembl:ENST00000324219) - c.2546G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1444423454 | 853 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869715G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869715G>C Locations: - p.Gly853Arg (Ensembl:ENST00000324219) - c.2557G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097923121 | 854 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.854) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869718A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869718A>G Locations: - p.Thr854Ala (Ensembl:ENST00000324219) - c.2560A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1460511369 | 855 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869722C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869722C>T Locations: - p.Thr855Met (Ensembl:ENST00000324219) - c.2564C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1381602398 | 857 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869727G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869727G>A Locations: - p.Glu857Lys (Ensembl:ENST00000324219) - c.2569G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs773687320 | 858 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.101869732G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869732G>C Locations: - p.Glu858Asp (Ensembl:ENST00000324219) - c.2574G>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs760805317 | 859 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000002.12:g.101869735C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869735C>G Locations: - p.Asp859Glu (Ensembl:ENST00000324219) - c.2577C>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1405530495 | 860 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869736G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869736G>A Locations: - p.Asp860Asn (Ensembl:ENST00000324219) - c.2578G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs753912429 | 861 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.101869741T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869741T>A Locations: - p.Asp861Glu (Ensembl:ENST00000324219) - c.2583T>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1334777509 | 861 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869739G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869739G>C Locations: - p.Asp861His (Ensembl:ENST00000324219) - c.2581G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1334777509 | 861 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869739G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869739G>A Locations: - p.Asp861Asn (Ensembl:ENST00000324219) - c.2581G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097923801 | 863 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869746A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869746A>G Locations: - p.Glu863Gly (Ensembl:ENST00000324219) - c.2588A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs977506323 | 864 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869750G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869750G>T Locations: - p.Gln864His (Ensembl:ENST00000324219) - c.2592G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1333511577 | 865 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101869753A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869753A>T Locations: - p.Glu865Asp (Ensembl:ENST00000324219) - c.2595A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1238607737 | 867 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869757G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869757G>T Locations: - p.Ala867Ser (Ensembl:ENST00000324219) - c.2599G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1368986299 | 867 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000002.12:g.101869758C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869758C>T Locations: - p.Ala867Val (Ensembl:ENST00000324219) - c.2600C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs765225259 | 869 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.58) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869763G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869763G>A Locations: - p.Glu869Lys (Ensembl:ENST00000324219) - c.2605G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2097924127 | 871 | T>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101869769A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869769A>C Locations: - p.Thr871Pro (Ensembl:ENST00000324219) - c.2611A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs752650443 | 872 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.241) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869772T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869772T>C Locations: - p.Ser872Pro (Ensembl:ENST00000324219) - c.2614T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1460410070 | 873 | G>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101869775G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869775G>T Locations: - p.Gly873Ter (Ensembl:ENST00000324219) - c.2617G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1201060958 | 873 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.854) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869776G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869776G>A Locations: - p.Gly873Glu (Ensembl:ENST00000324219) - c.2618G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1460410070 | 873 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869775G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869775G>A Locations: - p.Gly873Arg (Ensembl:ENST00000324219) - c.2617G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs866242185 | 875 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.303) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000002.12:g.101869783G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869783G>T Locations: - p.Glu875Asp (Ensembl:ENST00000324219) - c.2625G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329683 | 876 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874085G>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874085G>C Locations: - p.G876A (NCI-TCGA:ENST00000324219) - p.Gly876Ala (cosmic curated:ENST00000324219) - c.2627G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs758407981 | 876 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869785A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869785A>G Locations: - p.Asp876Gly (Ensembl:ENST00000324219) - c.2627A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1437840647 | 876 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869784G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869784G>A Locations: - p.Asp876Asn (Ensembl:ENST00000324219) - c.2626G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56325206 | 876 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874084G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101874084G>A Locations: - p.Gly876Arg (cosmic curated:ENST00000324219) - c.2626G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100156302 rs2150086388 | 878 | S>F | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.821) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101874091C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874091C>T Locations: - p.Ser878Phe (cosmic curated:ENST00000324219) - c.2633C>T (cosmic curated:ENST00000324219) - p.Ser1027Phe (Ensembl:ENST00000324219) - c.3080C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336853 | 878 | S>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874090T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101874090T>C Locations: - p.Ser878Pro (cosmic curated:ENST00000324219) - c.2632T>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs777416409 | 879 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.222) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869793G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869793G>C Locations: - p.Ala879Pro (Ensembl:ENST00000324219) - c.2635G>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs777416409 | 879 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101869793G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869793G>A Locations: - p.Ala879Thr (Ensembl:ENST00000324219) - c.2635G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56337739 | 879 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874094G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101874094G>A Locations: - p.Cys879Tyr (cosmic curated:ENST00000324219) - c.2636G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs751435179 | 880 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101869796G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869796G>A Locations: - p.Ala880Thr (Ensembl:ENST00000324219) - c.2638G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs375823544 | 880 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000002.12:g.101869797C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101869797C>T Locations: - p.Ala880Val (Ensembl:ENST00000324219) - c.2639C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1302712279 | 881 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870297C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870297C>T Locations: - p.Ser881Leu (Ensembl:ENST00000324219) - c.2642C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs759877850 | 881 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.594) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870296T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870296T>A Locations: - p.Ser881Thr (Ensembl:ENST00000324219) - c.2641T>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56333276 | 882 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874104G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101874104G>A Locations: - p.Met882Ile (cosmic curated:ENST00000324219) - c.2646G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097948388 | 884 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870305A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870305A>C Locations: - p.Asn884His (Ensembl:ENST00000324219) - c.2650A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1343683877 | 884 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870306A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870306A>G Locations: - p.Asn884Ser (Ensembl:ENST00000324219) - c.2651A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs750288682 | 886 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870313C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870313C>A Locations: - p.Ser886Arg (Ensembl:ENST00000324219) - c.2658C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs765384309 | 887 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870315A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870315A>G Locations: - p.Asn887Ser (Ensembl:ENST00000324219) - c.2660A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs752881262 | 889 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.721) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870321A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870321A>G Locations: - p.Glu889Gly (Ensembl:ENST00000324219) - c.2666A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097948608 | 889 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870320G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870320G>A Locations: - p.Glu889Lys (Ensembl:ENST00000324219) - c.2665G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56332746 | 891 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874129C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874129C>T Locations: - p.P891S (NCI-TCGA:ENST00000324219) - p.Pro891Ser (cosmic curated:ENST00000324219) - c.2671C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs757094416 | 892 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870329T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870329T>C Locations: - p.Ser892Pro (Ensembl:ENST00000324219) - c.2674T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs767343379 | 893 | V>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870332G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870332G>C Locations: - p.Val893Leu (Ensembl:ENST00000324219) - c.2677G>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs767343379 | 893 | V>M | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.349) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870332G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870332G>A Locations: - p.Val893Met (Ensembl:ENST00000324219) - c.2677G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV100153651 COSV56326004 rs781009612 | 893 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000008028 (gnomAD) Accession: NC_000002.12:g.101874135C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874135C>T Locations: - p.R893W (NCI-TCGA:ENST00000324219) - p.Arg893Trp (cosmic curated:ENST00000324219) - c.2677C>T (cosmic curated:ENST00000324219) - p.Arg1042Trp (Ensembl:ENST00000324219) - c.3124C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1355304351 | 894 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.101870336A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870336A>G Locations: - p.Lys894Arg (Ensembl:ENST00000324219) - c.2681A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2150027968 | 895 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870338A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870338A>G Locations: - p.Thr895Ala (Ensembl:ENST00000324219) - c.2683A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs755824363 | 895 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.705) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870339C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870339C>T Locations: - p.Thr895Ile (Ensembl:ENST00000324219) - c.2684C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56341586 rs375209088 | 896 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000002.12:g.101874145C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874145C>T Locations: - p.S896L (NCI-TCGA:ENST00000324219) - p.Ser896Leu (cosmic curated:ENST00000324219) - c.2687C>T (cosmic curated:ENST00000324219) - p.Ser1045Leu (Ensembl:ENST00000324219) - c.3134C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs779537824 | 896 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870341A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870341A>G Locations: - p.Met896Val (Ensembl:ENST00000324219) - c.2686A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1577117598 | 897 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101870344A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870344A>G Locations: - p.Ile897Val (Ensembl:ENST00000324219) - c.2689A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs368954596 | 898 | V>G | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870348T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870348T>G Locations: - p.Val898Gly (Ensembl:ENST00000324219) - c.2693T>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs778367356 | 900 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870354A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870354A>G Locations: - p.Asp900Gly (Ensembl:ENST00000324219) - c.2699A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs778367356 | 900 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.797) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870354A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870354A>T Locations: - p.Asp900Val (Ensembl:ENST00000324219) - c.2699A>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56332118 | 901 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874161T>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874161T>A Locations: - p.N901K (NCI-TCGA:ENST00000324219) - p.Asn901Lys (cosmic curated:ENST00000324219) - c.2703T>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs771391146 | 902 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101870360T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870360T>C Locations: - p.Val902Ala (Ensembl:ENST00000324219) - c.2705T>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2097949678 | 903 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870363A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870363A>G Locations: - p.Glu903Gly (Ensembl:ENST00000324219) - c.2708A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs200928764 | 903 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870362G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870362G>A Locations: - p.Glu903Lys (Ensembl:ENST00000324219) - c.2707G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1181144744 | 905 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874171A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874171A>G Locations: - p.T905A (NCI-TCGA:ENST00000324219) - p.Thr1054Ala (Ensembl:ENST00000324219) - c.3160A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1163205178 | 905 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.63) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870368G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870368G>A Locations: - p.Glu905Lys (Ensembl:ENST00000324219) - c.2713G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56333381 | 906 | R>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874174A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101874174A>G Locations: - p.Arg906Gly (cosmic curated:ENST00000324219) - c.2716A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs746075133 | 906 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870372C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870372C>T Locations: - p.Pro906Leu (Ensembl:ENST00000324219) - c.2717C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs746075133 | 906 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870372C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870372C>A Locations: - p.Pro906Gln (Ensembl:ENST00000324219) - c.2717C>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1299250529 | 908 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870379G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870379G>T Locations: - p.Met908Ile (Ensembl:ENST00000324219) - c.2724G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097949918 | 908 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.101870377A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870377A>G Locations: - p.Met908Val (Ensembl:ENST00000324219) - c.2722A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097950015 | 910 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.222) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870384C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870384C>T Locations: - p.Pro910Leu (Ensembl:ENST00000324219) - c.2729C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56331749 | 910 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874186G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101874186G>T Locations: - p.Asp910Tyr (cosmic curated:ENST00000324219) - c.2728G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329237 | 912 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874192C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101874192C>T Locations: - p.Pro912Ser (cosmic curated:ENST00000324219) - c.2734C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154790 | 913 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874197G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101874197G>T Locations: - p.Glu913Asp (cosmic curated:ENST00000324219) - c.2739G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs763102606 | 913 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870393A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870393A>G Locations: - p.Glu913Gly (Ensembl:ENST00000324219) - c.2738A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1315369498 | 914 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870395G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870395G>T Locations: - p.Gly914Cys (Ensembl:ENST00000324219) - c.2740G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56326979 rs375228116 | 915 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000008067 (gnomAD) Accession: NC_000002.12:g.101874201C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874201C>T Locations: - p.R915C (NCI-TCGA:ENST00000324219) - p.Arg915Cys (cosmic curated:ENST00000324219) - c.2743C>T (cosmic curated:ENST00000324219) - p.Arg1064Cys (Ensembl:ENST00000324219) - c.3190C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs371124016 | 915 | T>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101870399C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870399C>T Locations: - p.Thr915Ile (Ensembl:ENST00000324219) - c.2744C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1341767262 | 915 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870398A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870398A>C Locations: - p.Thr915Pro (Ensembl:ENST00000324219) - c.2743A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1341767262 | 915 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.827) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870398A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870398A>T Locations: - p.Thr915Ser (Ensembl:ENST00000324219) - c.2743A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1444940255 | 916 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870401C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870401C>G Locations: - p.Leu916Val (Ensembl:ENST00000324219) - c.2746C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs773555909 | 917 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870405T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870405T>C Locations: - p.Ile917Thr (Ensembl:ENST00000324219) - c.2750T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2097950746 | 917 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870404A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870404A>G Locations: - p.Ile917Val (Ensembl:ENST00000324219) - c.2749A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs780305338 | 918 | V>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870408T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870408T>A Locations: - p.Val918Asp (Ensembl:ENST00000324219) - c.2753T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155866 | 918 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874212G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874212G>T Locations: - p.K918N (NCI-TCGA:ENST00000324219) - p.Lys918Asn (cosmic curated:ENST00000324219) - c.2754G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs750288751 | 919 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101870410C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870410C>T Locations: - p.Arg919Cys (Ensembl:ENST00000324219) - c.2755C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs377621426 | 919 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101870411G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870411G>A Locations: - p.Arg919His (Ensembl:ENST00000324219) - c.2756G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs890869657 | 920 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101870413C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101870413C>G Locations: - p.Gln920Glu (Ensembl:ENST00000324219) - c.2758C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56338028 rs185929658 | 921 | S>N | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000002.12:g.101871495G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871495G>A Locations: - p.Ser921Asn (Ensembl:ENST00000324219) - c.2762G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098022723 | 922 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000002.12:g.101871497A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871497A>G Locations: - p.Thr922Ala (Ensembl:ENST00000324219) - c.2764A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs767451381 | 922 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.143) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871498C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871498C>T Locations: - p.Thr922Ile (Ensembl:ENST00000324219) - c.2765C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154797 rs1294709979 | 922 | N>T | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.576) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101874223A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874223A>C Locations: - p.Asn922Thr (cosmic curated:ENST00000324219) - c.2765A>C (cosmic curated:ENST00000324219) - p.Asn1071Thr (Ensembl:ENST00000324219) - c.3212A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56339333 | 923 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874226C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874226C>T Locations: - p.S923F (NCI-TCGA:ENST00000324219) - p.Ser923Phe (cosmic curated:ENST00000324219) - c.2768C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154722 rs577039991 | 926 | L>M | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101874234C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874234C>A Locations: - p.Leu926Met (cosmic curated:ENST00000324219) - c.2776C>A (cosmic curated:ENST00000324219) - p.Leu1075Met (Ensembl:ENST00000324219) - c.3223C>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1559281336 | 927 | R>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.8) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101871512C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871512C>T Locations: - p.Arg927Cys (Ensembl:ENST00000324219) - c.2779C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1443683518 | 927 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.8) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871513G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871513G>A Locations: - p.Arg927His (Ensembl:ENST00000324219) - c.2780G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1443683518 | 927 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871513G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871513G>T Locations: - p.Arg927Leu (Ensembl:ENST00000324219) - c.2780G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs980219581 | 928 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871515G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871515G>A Locations: - p.Ala928Thr (Ensembl:ENST00000324219) - c.2782G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098023456 | 928 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871516C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871516C>T Locations: - p.Ala928Val (Ensembl:ENST00000324219) - c.2783C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1298425197 | 929 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.101871519G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871519G>A Locations: - p.Ser929Asn (Ensembl:ENST00000324219) - c.2786G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105876809 | 929 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874244C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101874244C>T Locations: - p.Ala929Val (cosmic curated:ENST00000324219) - c.2786C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1577145734 | 930 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871522A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871522A>G Locations: - p.His930Arg (Ensembl:ENST00000324219) - c.2789A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392133 | 931 | W>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101874251G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101874251G>C Locations: - p.Trp931Cys (cosmic curated:ENST00000324219) - c.2793G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs772934965 | 931 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871525A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871525A>G Locations: - p.His931Arg (Ensembl:ENST00000324219) - c.2792A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1421950549 | 932 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871527G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871527G>A Locations: - p.Glu932Lys (Ensembl:ENST00000324219) - c.2794G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1303218009 | 934 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871534A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871534A>G Locations: - p.Asn934Ser (Ensembl:ENST00000324219) - c.2801A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098024183 | 935 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871537G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871537G>T Locations: - p.Gly935Val (Ensembl:ENST00000324219) - c.2804G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs956546489 | 937 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871543C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871543C>T Locations: - p.Ala937Val (Ensembl:ENST00000324219) - c.2810C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs767548846 | 938 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101871545G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871545G>A Locations: - p.Gly938Ser (Ensembl:ENST00000324219) - c.2812G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1024720142 | 939 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871548C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871548C>T Locations: - p.Arg939Cys (Ensembl:ENST00000324219) - c.2815C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs753499639 | 939 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871549G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871549G>A Locations: - p.Arg939His (Ensembl:ENST00000324219) - c.2816G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1024720142 | 939 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871548C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871548C>A Locations: - p.Arg939Ser (Ensembl:ENST00000324219) - c.2815C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155155 | 941 | S>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877030G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101877030G>T Locations: - p.Ser941Ile (cosmic curated:ENST00000324219) - c.2822G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56338539 | 942 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877032G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877032G>T Locations: - p.G942C (NCI-TCGA:ENST00000324219) - p.Gly942Cys (cosmic curated:ENST00000324219) - c.2824G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1250808141 | 942 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871557C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871557C>T Locations: - p.Leu942Phe (Ensembl:ENST00000324219) - c.2824C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs538087124 | 943 | L>V | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.841) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101871560T>G Codon: TTG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871560T>G Locations: - p.Leu943Val (Ensembl:ENST00000324219) - c.2827T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1375203363 | 948 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101871575C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871575C>T Locations: - p.Gln948Ter (Ensembl:ENST00000324219) - c.2842C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1375203363 | 948 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871575C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871575C>G Locations: - p.Gln948Glu (Ensembl:ENST00000324219) - c.2842C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2150129797 | 948 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877051G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877051G>T Locations: - p.R948I (NCI-TCGA:ENST00000324219) - p.Arg1097Ile (Ensembl:ENST00000324219) - c.3290G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV108126119 | 949 | S>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877053A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101877053A>G Locations: - p.Ser949Gly (cosmic curated:ENST00000324219) - c.2845A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098025423 | 949 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871579A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871579A>G Locations: - p.Gln949Arg (Ensembl:ENST00000324219) - c.2846A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1273868698 | 950 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871582G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871582G>A Locations: - p.Ser950Asn (Ensembl:ENST00000324219) - c.2849G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56334306 | 951 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877061A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101877061A>T Locations: - p.Gln951His (cosmic curated:ENST00000324219) - c.2853A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs555033539 | 953 | S>F | Variant of uncertain significance (Ensembl) | 1000Genomes | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101871591C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871591C>T Locations: - p.Ser953Phe (Ensembl:ENST00000324219) - c.2858C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154616 | 953 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877066A>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877066A>C Locations: - p.K953T (NCI-TCGA:ENST00000324219) - p.Lys953Thr (cosmic curated:ENST00000324219) - c.2858A>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1480282028 | 954 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871594C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871594C>G Locations: - p.Ser954Cys (Ensembl:ENST00000324219) - c.2861C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1197920499 | 955 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871596A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871596A>G Locations: - p.Thr955Ala (Ensembl:ENST00000324219) - c.2863A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2150048995 | 955 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871597C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871597C>T Locations: - p.Thr955Ile (Ensembl:ENST00000324219) - c.2864C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1197920499 | 955 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101871596A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871596A>T Locations: - p.Thr955Ser (Ensembl:ENST00000324219) - c.2863A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV104534466 | 956 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877075C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101877075C>A Locations: - p.Pro956His (cosmic curated:ENST00000324219) - c.2867C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56331182 | 957 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877077C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101877077C>G Locations: - p.Leu957Val (cosmic curated:ENST00000324219) - c.2869C>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1170598641 | 958 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871606C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871606C>T Locations: - p.Thr958Ile (Ensembl:ENST00000324219) - c.2873C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1577147147 | 958 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871605A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871605A>C Locations: - p.Thr958Pro (Ensembl:ENST00000324219) - c.2872A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098026809 | 959 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871609C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871609C>T Locations: - p.Ser959Phe (Ensembl:ENST00000324219) - c.2876C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56338196 | 960 | R>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877087G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101877087G>A Locations: - p.Arg960Gln (cosmic curated:ENST00000324219) - c.2879G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56326588 rs754790276 | 962 | R>* | cosmic curated ExAC gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877092C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877092C>T Locations: - p.Arg962Ter (cosmic curated:ENST00000324219) - c.2884C>T (cosmic curated:ENST00000324219) - p.Arg1111Ter (Ensembl:ENST00000324219) - c.3331C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56340009 | 962 | R>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877093G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101877093G>A Locations: - p.Arg962Gln (cosmic curated:ENST00000324219) - c.2885G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098027199 | 963 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.859) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871621C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871621C>G Locations: - p.Ser963Cys (Ensembl:ENST00000324219) - c.2888C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56339702 rs1254271667 | 964 | Q>* | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877098C>T Codon: CAA/TAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877098C>T Locations: - p.Gln964Ter (cosmic curated:ENST00000324219) - c.2890C>T (cosmic curated:ENST00000324219) - p.Gln1113Ter (Ensembl:ENST00000324219) - c.3337C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098027423 | 966 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101871629C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871629C>T Locations: - p.Gln966Ter (Ensembl:ENST00000324219) - c.2896C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs969083770 | 966 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871631G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871631G>C Locations: - p.Gln966His (Ensembl:ENST00000324219) - c.2898G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs541836462 | 967 | P>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871633C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871633C>T Locations: - p.Pro967Leu (Ensembl:ENST00000324219) - c.2900C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392134 | 968 | V>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877110G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101877110G>A Locations: - p.Val968Ile (cosmic curated:ENST00000324219) - c.2902G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56341721 | 969 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877113C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877113C>T Locations: - p.L969F (NCI-TCGA:ENST00000324219) - p.Leu969Phe (cosmic curated:ENST00000324219) - c.2905C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1295029408 | 969 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871639C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871639C>T Locations: - p.Pro969Leu (Ensembl:ENST00000324219) - c.2906C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs773112668 | 969 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871638C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871638C>T Locations: - p.Pro969Ser (Ensembl:ENST00000324219) - c.2905C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154838 | 970 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877116G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877116G>A Locations: - p.E970K (NCI-TCGA:ENST00000324219) - p.Glu970Lys (cosmic curated:ENST00000324219) - c.2908G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs752215486 | 972 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.588) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871648C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871648C>T Locations: - p.Ser972Phe (Ensembl:ENST00000324219) - c.2915C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56332137 | 972 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877122T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101877122T>G Locations: - p.Leu972Val (cosmic curated:ENST00000324219) - c.2914T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56335855 rs1577252409 | 974 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101877128G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877128G>A Locations: - p.V974I (NCI-TCGA:ENST00000324219) - p.Val974Ile (cosmic curated:ENST00000324219) - c.2920G>A (cosmic curated:ENST00000324219) - p.Val1123Ile (Ensembl:ENST00000324219) - c.3367G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV104534484 | 975 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101877133G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101877133G>C Locations: - p.Leu975Phe (cosmic curated:ENST00000324219) - c.2925G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs945584571 | 975 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.482) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871657C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871657C>T Locations: - p.Thr975Ile (Ensembl:ENST00000324219) - c.2924C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1292715176 | 977 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101871662C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871662C>T Locations: - p.Gln977Ter (Ensembl:ENST00000324219) - c.2929C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1265771487 | 981 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871674A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871674A>G Locations: - p.Thr981Ala (Ensembl:ENST00000324219) - c.2941A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs760504705 | 982 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.201) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871678C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871678C>G Locations: - p.Ala982Gly (Ensembl:ENST00000324219) - c.2945C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1324584744 | 983 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871680A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871680A>G Locations: - p.Asn983Asp (Ensembl:ENST00000324219) - c.2947A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs866172172 | 984 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.243) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101871684A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101871684A>G Locations: - p.Glu984Gly (Ensembl:ENST00000324219) - c.2951A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56328706 | 985 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101882565T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101882565T>G Locations: - p.Leu985Val (cosmic curated:ENST00000324219) - c.2953T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329706 | 986 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101882568C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882568C>T Locations: - p.R986C (NCI-TCGA:ENST00000324219) - p.Arg986Cys (cosmic curated:ENST00000324219) - c.2956C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs778988891 | 986 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.439) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873650C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873650C>G Locations: - p.Gln986Glu (Ensembl:ENST00000324219) - c.2956C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs951419843 | 986 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873651A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873651A>T Locations: - p.Gln986Leu (Ensembl:ENST00000324219) - c.2957A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs951419843 | 986 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.544) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873651A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873651A>G Locations: - p.Gln986Arg (Ensembl:ENST00000324219) - c.2957A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1485204400 | 987 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873654C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873654C>A Locations: - p.Ser987Tyr (Ensembl:ENST00000324219) - c.2960C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV104403192 | 988 | Y>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101882574T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101882574T>G Locations: - p.Tyr988Asp (cosmic curated:ENST00000324219) - c.2962T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1443702115 | 988 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873656G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873656G>C Locations: - p.Ala988Pro (Ensembl:ENST00000324219) - c.2962G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1443702115 | 988 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.859) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873656G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873656G>A Locations: - p.Ala988Thr (Ensembl:ENST00000324219) - c.2962G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1577188808 | 989 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101873659A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873659A>G Locations: - p.Ser989Gly (Ensembl:ENST00000324219) - c.2965A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1259464695 | 990 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873662A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873662A>G Locations: - p.Ser990Gly (Ensembl:ENST00000324219) - c.2968A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs771949686 | 991 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873666C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873666C>T Locations: - p.Thr991Ile (Ensembl:ENST00000324219) - c.2972C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1158333653 | 992 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873669T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873669T>C Locations: - p.Leu992Pro (Ensembl:ENST00000324219) - c.2975T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1181090802 | 994 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.417) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101873675A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873675A>G Locations: - p.Lys994Arg (Ensembl:ENST00000324219) - c.2981A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1181090802 | 994 | K>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873675A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873675A>C Locations: - p.Lys994Thr (Ensembl:ENST00000324219) - c.2981A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098119004 | 995 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873678A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873678A>G Locations: - p.His995Arg (Ensembl:ENST00000324219) - c.2984A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs760647526 | 996 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.923) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873681A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873681A>G Locations: - p.Lys996Arg (Ensembl:ENST00000324219) - c.2987A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs879019815 | 997 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873684C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873684C>T Locations: - p.Ser997Phe (Ensembl:ENST00000324219) - c.2990C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155890 | 997 | I>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101882602T>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882602T>G Locations: - p.I997R (NCI-TCGA:ENST00000324219) - p.Ile997Arg (cosmic curated:ENST00000324219) - c.2990T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs879019815 | 997 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873684C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873684C>A Locations: - p.Ser997Tyr (Ensembl:ENST00000324219) - c.2990C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1382124523 | 998 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101873687C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873687C>G Locations: - p.Ser998Cys (Ensembl:ENST00000324219) - c.2993C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329031 | 999 | H>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101882608A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101882608A>T Locations: - p.His999Leu (cosmic curated:ENST00000324219) - c.2996A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1450734035 | 1000 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873693C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873693C>T Locations: - p.Ser1000Phe (Ensembl:ENST00000324219) - c.2999C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1465397329 | 1000 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873692T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873692T>C Locations: - p.Ser1000Pro (Ensembl:ENST00000324219) - c.2998T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs759221924 | 1001 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873696T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873696T>C Locations: - p.Phe1001Ser (Ensembl:ENST00000324219) - c.3002T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs776345157 | 1001 | F>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873695T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873695T>G Locations: - p.Phe1001Val (Ensembl:ENST00000324219) - c.3001T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155532 | 1005 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101882625G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882625G>A Locations: - p.E1005K (NCI-TCGA:ENST00000324219) - p.Glu1005Lys (cosmic curated:ENST00000324219) - c.3013G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs764800572 | 1007 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873714C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873714C>A Locations: - p.Pro1007His (Ensembl:ENST00000324219) - c.3020C>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1267652999 | 1007 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873713C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873713C>T Locations: - p.Pro1007Ser (Ensembl:ENST00000324219) - c.3019C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098119441 | 1009 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873721A>C Codon: TTA/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873721A>C Locations: - p.Leu1009Phe (Ensembl:ENST00000324219) - c.3027A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2150081060 | 1011 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873725C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873725C>G Locations: - p.Gln1011Glu (Ensembl:ENST00000324219) - c.3031C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154982 | 1012 | T>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101882647C>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882647C>G Locations: - p.T1012S (NCI-TCGA:ENST00000324219) - p.Thr1012Ser (cosmic curated:ENST00000324219) - c.3035C>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098119500 | 1012 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873728A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873728A>G Locations: - p.Ile1012Val (Ensembl:ENST00000324219) - c.3034A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329756 rs1215273180 | 1013 | V>I | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.334) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101882649G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882649G>A Locations: - p.Val1013Ile (cosmic curated:ENST00000324219) - c.3037G>A (cosmic curated:ENST00000324219) - p.Val1162Ile (Ensembl:ENST00000324219) - c.3484G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1559291155 | 1014 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.719) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873734C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873734C>T Locations: - p.Pro1014Ser (Ensembl:ENST00000324219) - c.3040C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56334124 | 1014 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101882653G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882653G>T Locations: - p.G1014V (NCI-TCGA:ENST00000324219) - p.Gly1014Val (cosmic curated:ENST00000324219) - c.3041G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56326765 | 1015 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101882655G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882655G>A Locations: - p.D1015N (NCI-TCGA:ENST00000324219) - p.Asp1015Asn (cosmic curated:ENST00000324219) - c.3043G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs373924830 | 1016 | S>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101873740A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873740A>G Locations: - p.Ser1016Gly (Ensembl:ENST00000324219) - c.3046A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV107392262 | 1017 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101882661G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101882661G>A Locations: - p.Glu1017Lys (cosmic curated:ENST00000324219) - c.3049G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs534441332 | 1017 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101873743G>A, NC_000002.12:g.101873743G>C Codon: GGA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873743G>A, NC_000002.12:g.101873743G>C Locations: - p.Gly1017Arg (Ensembl:ENST00000324219) - c.3049G>A (Ensembl:ENST00000324219) - c.3049G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV104403269 | 1018 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101882664G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101882664G>T Locations: - p.Gly1018Ter (cosmic curated:ENST00000324219) - c.3052G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs780464308 | 1019 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873749A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873749A>G Locations: - p.Thr1019Ala (Ensembl:ENST00000324219) - c.3055A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs754162383 | 1021 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873756C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873756C>T Locations: - p.Thr1021Ile (Ensembl:ENST00000324219) - c.3062C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs779027000 | 1023 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101873761G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873761G>C Locations: - p.Val1023Leu (Ensembl:ENST00000324219) - c.3067G>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs779027000 | 1023 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.183) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101873761G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873761G>A Locations: - p.Val1023Met (Ensembl:ENST00000324219) - c.3067G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1438466822 | 1024 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101873764G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101873764G>T Locations: - p.Val1024Leu (Ensembl:ENST00000324219) - c.3070G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56339323 | 1026 | K>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101885190A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101885190A>C Locations: - p.Lys1026Thr (cosmic curated:ENST00000324219) - c.3077A>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs370189911 | 1027 | S>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874090T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874090T>G Locations: - p.Ser1027Ala (Ensembl:ENST00000324219) - c.3079T>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV100156215 rs772465744 | 1027 | Y>C | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101885193A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885193A>G Locations: - p.Tyr1027Cys (cosmic curated:ENST00000324219) - c.3080A>G (cosmic curated:ENST00000324219) - p.Tyr1176Cys (Ensembl:ENST00000324219) - c.3527A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV100156182 | 1028 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101885195G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885195G>A Locations: - p.E1028K (NCI-TCGA:ENST00000324219) - p.Glu1028Lys (cosmic curated:ENST00000324219) - c.3082G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1268702171 | 1029 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: tolerated - low confidence (0.61) Somatic: No Accession: NC_000002.12:g.101874098T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874098T>G Locations: - p.Asp1029Glu (Ensembl:ENST00000324219) - c.3087T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336074 | 1029 | R>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101885199G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101885199G>T Locations: - p.Arg1029Ile (cosmic curated:ENST00000324219) - c.3086G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs763672959 | 1029 | D>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874097A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874097A>T Locations: - p.Asp1029Val (Ensembl:ENST00000324219) - c.3086A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs910184648 | 1030 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.341) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874100G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874100G>A Locations: - p.Gly1030Glu (Ensembl:ENST00000324219) - c.3089G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56339314 | 1030 | I>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101885202T>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885202T>A Locations: - p.I1030N (NCI-TCGA:ENST00000324219) - p.Ile1030Asn (cosmic curated:ENST00000324219) - c.3089T>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098131435 | 1031 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101874104G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874104G>T Locations: - p.Met1031Ile (Ensembl:ENST00000324219) - c.3093G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs761179721 | 1031 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874102A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874102A>G Locations: - p.Met1031Val (Ensembl:ENST00000324219) - c.3091A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2098131475 | 1032 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874105A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874105A>G Locations: - p.Arg1032Gly (Ensembl:ENST00000324219) - c.3094A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs368665024 | 1033 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874109C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874109C>T Locations: - p.Pro1033Leu (Ensembl:ENST00000324219) - c.3098C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs368665024 | 1033 | P>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874109C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874109C>A Locations: - p.Pro1033Gln (Ensembl:ENST00000324219) - c.3098C>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs766813229 | 1033 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.486) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000002.12:g.101874108C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874108C>T Locations: - p.Pro1033Ser (Ensembl:ENST00000324219) - c.3097C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs765630872 | 1034 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874111G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874111G>A Locations: - p.Glu1034Lys (Ensembl:ENST00000324219) - c.3100G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs765630872 | 1034 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874111G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874111G>C Locations: - p.Glu1034Gln (Ensembl:ENST00000324219) - c.3100G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1344195242 | 1035 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874115C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874115C>A Locations: - p.Ala1035Asp (Ensembl:ENST00000324219) - c.3104C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs532860411 | 1036 | I>M | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated - low confidence (0.12) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101874119A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874119A>G Locations: - p.Ile1036Met (Ensembl:ENST00000324219) - c.3108A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs758676912 | 1036 | I>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.439) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874118T>G Codon: ATA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874118T>G Locations: - p.Ile1036Arg (Ensembl:ENST00000324219) - c.3107T>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs758676912 | 1036 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874118T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874118T>C Locations: - p.Ile1036Thr (Ensembl:ENST00000324219) - c.3107T>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2098131700 | 1036 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.101874117A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874117A>G Locations: - p.Ile1036Val (Ensembl:ENST00000324219) - c.3106A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs777823842 | 1037 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.242) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.101874121G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874121G>A Locations: - p.Arg1037Lys (Ensembl:ENST00000324219) - c.3110G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56326811 | 1037 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101885222T>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885222T>G Locations: - p.L1037V (NCI-TCGA:ENST00000324219) - p.Leu1037Val (cosmic curated:ENST00000324219) - c.3109T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56336006 | 1040 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101885232C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101885232C>A Locations: - p.Ser1040Tyr (cosmic curated:ENST00000324219) - c.3119C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098131985 | 1042 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874136G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874136G>A Locations: - p.Arg1042Gln (Ensembl:ENST00000324219) - c.3125G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1453733250 | 1044 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.649) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874142G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874142G>T Locations: - p.Gly1044Val (Ensembl:ENST00000324219) - c.3131G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154312 | 1045 | A>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101885246G>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885246G>C Locations: - p.A1045P (NCI-TCGA:ENST00000324219) - p.Ala1045Pro (cosmic curated:ENST00000324219) - c.3133G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56326482 | 1045 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101885247C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885247C>T Locations: - p.A1045V (NCI-TCGA:ENST00000324219) - p.Ala1045Val (cosmic curated:ENST00000324219) - c.3134C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56331852 | 1046 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101885251G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885251G>T Locations: - p.W1046C (NCI-TCGA:ENST00000324219) - p.Trp1046Cys (cosmic curated:ENST00000324219) - c.3138G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1373777398 | 1046 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874147G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874147G>A Locations: - p.Val1046Met (Ensembl:ENST00000324219) - c.3136G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098132299 | 1048 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874154A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874154A>G Locations: - p.Asn1048Ser (Ensembl:ENST00000324219) - c.3143A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs372225228 | 1052 | T>I | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874166C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874166C>T Locations: - p.Thr1052Ile (Ensembl:ENST00000324219) - c.3155C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1577198427 | 1053 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.751) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874168A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874168A>G Locations: - p.Asn1053Asp (Ensembl:ENST00000324219) - c.3157A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1027621147 | 1053 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.423) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874169A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874169A>G Locations: - p.Asn1053Ser (Ensembl:ENST00000324219) - c.3158A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329128 | 1054 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101885274T>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885274T>G Locations: - p.F1054C (NCI-TCGA:ENST00000324219) - p.Phe1054Cys (cosmic curated:ENST00000324219) - c.3161T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV108126042 | 1056 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101885279G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101885279G>A Locations: - p.Ala1056Thr (cosmic curated:ENST00000324219) - c.3166G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1204462176 | 1058 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874184G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874184G>A Locations: - p.Ser1058Asn (Ensembl:ENST00000324219) - c.3173G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56339175 | 1061 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887095G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887095G>A Locations: - p.Gly1061Glu (cosmic curated:ENST00000324219) - c.3182G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs768429723 | 1061 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874193C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874193C>T Locations: - p.Pro1061Leu (Ensembl:ENST00000324219) - c.3182C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56330524 | 1062 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887097G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887097G>T Locations: - p.E1062* (NCI-TCGA:ENST00000324219) - p.Glu1062Ter (cosmic curated:ENST00000324219) - c.3184G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs528924487 | 1064 | R>H | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101874202G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874202G>A Locations: - p.Arg1064His (Ensembl:ENST00000324219) - c.3191G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs911750264 | 1065 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874204A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874204A>G Locations: - p.Lys1065Glu (Ensembl:ENST00000324219) - c.3193A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098132859 | 1067 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874211A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874211A>G Locations: - p.Lys1067Arg (Ensembl:ENST00000324219) - c.3200A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs965838000 | 1069 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.594) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874217G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874217G>A Locations: - p.Arg1069Lys (Ensembl:ENST00000324219) - c.3206G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1294709979 | 1071 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874223A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874223A>G Locations: - p.Asn1071Ser (Ensembl:ENST00000324219) - c.3212A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1450799551 | 1073 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874229A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874229A>T Locations: - p.Glu1073Val (Ensembl:ENST00000324219) - c.3218A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340299 | 1075 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887138G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887138G>T Locations: - p.Glu1075Asp (cosmic curated:ENST00000324219) - c.3225G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340329 | 1076 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887139G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887139G>T Locations: - p.Glu1076Ter (cosmic curated:ENST00000324219) - c.3226G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098133143 COSV106450382 | 1077 | A>S | TOPMed cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.786) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101874240G>T, NC_000002.12:g.101887142G>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874240G>T, NC_000002.12:g.101887142G>A Locations: - p.Ala1077Ser (Ensembl:ENST00000324219) - c.3229G>T (Ensembl:ENST00000324219) - p.Gly1077Ser (cosmic curated:ENST00000324219) - c.3229G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1282200608 | 1079 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101874246T>G Codon: TTA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101874246T>G Locations: - p.Leu1079Val (Ensembl:ENST00000324219) - c.3235T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56331771 | 1080 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887153G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887153G>T Locations: - p.Leu1080Phe (cosmic curated:ENST00000324219) - c.3240G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56328420 rs778889965 | 1084 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.745) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101887164A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887164A>G Locations: - p.Y1084C (NCI-TCGA:ENST00000324219) - p.Tyr1084Cys (cosmic curated:ENST00000324219) - c.3251A>G (cosmic curated:ENST00000324219) - p.Tyr1233Cys (Ensembl:ENST00000324219) - c.3698A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098225186 | 1086 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.715) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877018T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877018T>C Locations: - p.Val1086Ala (Ensembl:ENST00000324219) - c.3257T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105123060 | 1086 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887170C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887170C>T Locations: - p.Ser1086Phe (cosmic curated:ENST00000324219) - c.3257C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1014270424 | 1088 | T>A | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877023A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877023A>G Locations: - p.Thr1088Ala (Ensembl:ENST00000324219) - c.3262A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105123018 | 1089 | G>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887178-101887179GG>AA Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887178-101887179GG>AA Locations: - p.Gly1089Lys (cosmic curated:ENST00000324219) - c.3265_3266delinsAA (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56333964 | 1094 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887193G>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887193G>A Locations: - p.D1094N (NCI-TCGA:ENST00000324219) - p.Asp1094Asn (cosmic curated:ENST00000324219) - c.3280G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56327156 | 1100 | V>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887211G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887211G>A Locations: - p.Val1100Ile (cosmic curated:ENST00000324219) - c.3298G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1577251601 | 1102 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877065A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877065A>G Locations: - p.Lys1102Glu (Ensembl:ENST00000324219) - c.3304A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1577251762 | 1103 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877069T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877069T>G Locations: - p.Val1103Gly (Ensembl:ENST00000324219) - c.3308T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1392712561 | 1103 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.626) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877068G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877068G>A Locations: - p.Val1103Ile (Ensembl:ENST00000324219) - c.3307G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56337205 | 1103 | I>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887221T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887221T>G Locations: - p.Ile1103Ser (cosmic curated:ENST00000324219) - c.3308T>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1334942278 | 1104 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877072A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877072A>G Locations: - p.Tyr1104Cys (Ensembl:ENST00000324219) - c.3311A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1307444342 | 1104 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877071T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877071T>C Locations: - p.Tyr1104His (Ensembl:ENST00000324219) - c.3310T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100156045 | 1106 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887230C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887230C>A Locations: - p.Pro1106Gln (cosmic curated:ENST00000324219) - c.3317C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1395201513 | 1107 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.858) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877081T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877081T>C Locations: - p.Ile1107Thr (Ensembl:ENST00000324219) - c.3320T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098225663 | 1108 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877085C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877085C>A Locations: - p.Asn1108Lys (Ensembl:ENST00000324219) - c.3324C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs150787735 | 1108 | N>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.07) Somatic: No Population frequencies: - MAF: 0.000784929 (1000Genomes) Accession: NC_000002.12:g.101877084A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877084A>G Locations: - p.Asn1108Ser (Ensembl:ENST00000324219) - c.3323A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1317901896 | 1109 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887778A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887778A>G Locations: - p.I1109V (NCI-TCGA:ENST00000324219) - p.Ile1258Val (Ensembl:ENST00000324219) - c.3772A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1203143199 | 1111 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.591) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877093G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877093G>T Locations: - p.Arg1111Leu (Ensembl:ENST00000324219) - c.3332G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098225980 | 1115 | M>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877105T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877105T>A Locations: - p.Met1115Lys (Ensembl:ENST00000324219) - c.3344T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs778819047 | 1115 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877104A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877104A>T Locations: - p.Met1115Leu (Ensembl:ENST00000324219) - c.3343A>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs747745076 | 1116 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877109C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877109C>G Locations: - p.Asp1116Glu (Ensembl:ENST00000324219) - c.3348C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56339591 rs575872758 | 1117 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.762) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000002.12:g.101887802G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887802G>A Locations: - p.A1117T (NCI-TCGA:ENST00000324219) - p.Ala1117Thr (cosmic curated:ENST00000324219) - c.3349G>A (cosmic curated:ENST00000324219) - p.Ala1266Thr (Ensembl:ENST00000324219) - c.3796G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2098226080 | 1118 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877114T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877114T>C Locations: - p.Leu1118Pro (Ensembl:ENST00000324219) - c.3353T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392301 | 1122 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887817C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887817C>A Locations: - p.Pro1122Thr (cosmic curated:ENST00000324219) - c.3364C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154773 | 1124 | T>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887824C>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887824C>G Locations: - p.T1124R (NCI-TCGA:ENST00000324219) - p.Thr1124Arg (cosmic curated:ENST00000324219) - c.3371C>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs746540881 | 1128 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101877144C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101877144C>G Locations: - p.Ser1128Cys (Ensembl:ENST00000324219) - c.3383C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340879 | 1128 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887835G>C Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887835G>C Locations: - p.E1128Q (NCI-TCGA:ENST00000324219) - p.Glu1128Gln (cosmic curated:ENST00000324219) - c.3382G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56328963 | 1130 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887841C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887841C>A Locations: - p.Leu1130Met (cosmic curated:ENST00000324219) - c.3388C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1303027935 | 1131 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.411) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882558G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882558G>C Locations: - p.Lys1131Asn (Ensembl:ENST00000324219) - c.3393G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs757928649 | 1132 | D>G | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882560A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882560A>G Locations: - p.Asp1132Gly (Ensembl:ENST00000324219) - c.3395A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs777503720 | 1133 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882562A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882562A>C Locations: - p.Lys1133Gln (Ensembl:ENST00000324219) - c.3397A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1170753384 | 1135 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882569G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882569G>A Locations: - p.Arg1135His (Ensembl:ENST00000324219) - c.3404G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1451540234 | 1136 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882572T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882572T>C Locations: - p.Val1136Ala (Ensembl:ENST00000324219) - c.3407T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56327078 | 1136 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887859G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887859G>C Locations: - p.Glu1136Gln (cosmic curated:ENST00000324219) - c.3406G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56334623 | 1138 | V>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887865G>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887865G>T Locations: - p.V1138F (NCI-TCGA:ENST00000324219) - p.Val1138Phe (cosmic curated:ENST00000324219) - c.3412G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56342073 | 1141 | N>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887875A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887875A>G Locations: - p.Asn1141Ser (cosmic curated:ENST00000324219) - c.3422A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105876817 | 1143 | Y>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887882T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887882T>A Locations: - p.Tyr1143Ter (cosmic curated:ENST00000324219) - c.3429T>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs756720258 | 1143 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882592A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882592A>G Locations: - p.Arg1143Gly (Ensembl:ENST00000324219) - c.3427A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1304739083 | 1145 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.421) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882598A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882598A>C Locations: - p.Lys1145Gln (Ensembl:ENST00000324219) - c.3433A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56342931 rs988761440 | 1151 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101887905T>C, NC_000002.12:g.101882616C>G Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887905T>C, NC_000002.12:g.101882616C>G Locations: - p.V1151A (NCI-TCGA:ENST00000324219) - p.Val1151Ala (cosmic curated:ENST00000324219) - c.3452T>C (cosmic curated:ENST00000324219) - p.Pro1151Ala (Ensembl:ENST00000324219) - c.3451C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1449011325 | 1154 | E>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.479) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882626A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882626A>C Locations: - p.Glu1154Ala (Ensembl:ENST00000324219) - c.3461A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs749779435 | 1155 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882629A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882629A>G Locations: - p.Lys1155Arg (Ensembl:ENST00000324219) - c.3464A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56326781 | 1156 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887919G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887919G>C Locations: - p.Glu1156Gln (cosmic curated:ENST00000324219) - c.3466G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2150226286 | 1156 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882632A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882632A>G Locations: - p.Lys1156Arg (Ensembl:ENST00000324219) - c.3467A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56330858 | 1156 | E>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101887920A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101887920A>T Locations: - p.Glu1156Val (cosmic curated:ENST00000324219) - c.3467A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1262506299 | 1161 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.188) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882646A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882646A>G Locations: - p.Thr1161Ala (Ensembl:ENST00000324219) - c.3481A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs373475997 | 1164 | D>E | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882657T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882657T>G Locations: - p.Asp1164Glu (Ensembl:ENST00000324219) - c.3492T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56326034 rs1247832319 | 1165 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888804C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888804C>T Locations: - p.R1165* (NCI-TCGA:ENST00000324219) - p.Arg1165Ter (cosmic curated:ENST00000324219) - c.3493C>T (cosmic curated:ENST00000324219) - p.Arg1314Ter (Ensembl:ENST00000324219) - c.3940C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
COSV56339794 rs2098524833 | 1165 | R>Q | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.101888805G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888805G>A Locations: - p.Arg1165Gln (cosmic curated:ENST00000324219) - c.3494G>A (cosmic curated:ENST00000324219) - p.Arg1314Gln (Ensembl:ENST00000324219) - c.3941G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153346 | 1168 | Q>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888814A>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888814A>T Locations: - p.Q1168L (NCI-TCGA:ENST00000324219) - p.Gln1168Leu (cosmic curated:ENST00000324219) - c.3503A>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs376509260 | 1170 | H>R | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882674A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882674A>G Locations: - p.His1170Arg (Ensembl:ENST00000324219) - c.3509A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs774523844 | 1170 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.284) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882673C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882673C>T Locations: - p.His1170Tyr (Ensembl:ENST00000324219) - c.3508C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1341409060 | 1172 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.858) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101882679A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101882679A>C Locations: - p.Lys1172Gln (Ensembl:ENST00000324219) - c.3514A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56334437 | 1176 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888837G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101888837G>A Locations: - p.Ala1176Thr (cosmic curated:ENST00000324219) - c.3526G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs773770276 | 1177 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101885196A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885196A>G Locations: - p.Glu1177Gly (Ensembl:ENST00000324219) - c.3530A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56327274 rs1188785212 | 1180 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888849C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888849C>T Locations: - p.R1180* (NCI-TCGA:ENST00000324219) - p.Arg1180Ter (cosmic curated:ENST00000324219) - c.3538C>T (cosmic curated:ENST00000324219) - p.Arg1329Ter (Ensembl:ENST00000324219) - c.3985C>T (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1160893012 | 1180 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.735) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101885205A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885205A>G Locations: - p.Lys1180Arg (Ensembl:ENST00000324219) - c.3539A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV106450371 | 1181 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888853C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101888853C>T Locations: - p.Ser1181Phe (cosmic curated:ENST00000324219) - c.3542C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1158314222 | 1182 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101885210C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885210C>A Locations: - p.Leu1182Met (Ensembl:ENST00000324219) - c.3544C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1158314222 | 1182 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.779) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101885210C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885210C>G Locations: - p.Leu1182Val (Ensembl:ENST00000324219) - c.3544C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098463647 | 1184 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.544) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101885217T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885217T>C Locations: - p.Ile1184Thr (Ensembl:ENST00000324219) - c.3551T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56328251 | 1185 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888865G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101888865G>A Locations: - p.Gly1185Asp (cosmic curated:ENST00000324219) - c.3554G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153174 | 1187 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888872G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101888872G>T Locations: - p.Leu1187Phe (cosmic curated:ENST00000324219) - c.3561G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2150274521 | 1187 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000002.12:g.101885226A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885226A>G Locations: - p.Lys1187Arg (Ensembl:ENST00000324219) - c.3560A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs144718259 | 1188 | S>R | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101885230T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885230T>A Locations: - p.Ser1188Arg (Ensembl:ENST00000324219) - c.3564T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100155239 | 1189 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888876G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101888876G>T Locations: - p.Gly1189Cys (cosmic curated:ENST00000324219) - c.3565G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56328241 | 1189 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888876G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101888876G>A Locations: - p.Gly1189Ser (cosmic curated:ENST00000324219) - c.3565G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV106099367 | 1190 | V>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888880T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101888880T>C Locations: - p.Val1190Ala (cosmic curated:ENST00000324219) - c.3569T>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098463726 | 1190 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101885234G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885234G>A Locations: - p.Val1190Met (Ensembl:ENST00000324219) - c.3568G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56335750 | 1193 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888888C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101888888C>T Locations: - p.His1193Tyr (cosmic curated:ENST00000324219) - c.3577C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56328612 | 1195 | R>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888894A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101888894A>G Locations: - p.Arg1195Gly (cosmic curated:ENST00000324219) - c.3583A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100153677 | 1195 | R>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888895G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101888895G>T Locations: - p.Arg1195Met (cosmic curated:ENST00000324219) - c.3584G>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56324241 COSV56343131 | 1201 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888912T>C, NC_000002.12:g.101888914C>A Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888912T>C, NC_000002.12:g.101888914C>A Locations: - p.F1201L (NCI-TCGA:ENST00000324219) - p.Phe1201Leu (cosmic curated:ENST00000324219) - c.3601T>C (cosmic curated:ENST00000324219) - c.3603C>A (cosmic curated:ENST00000324219) Source type: large scale study | |||||||
COSV56343233 | 1205 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888924C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888924C>T Locations: - p.R1205C (NCI-TCGA:ENST00000324219) - p.Arg1205Cys (cosmic curated:ENST00000324219) - c.3613C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs775466179 | 1205 | A>S | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101885279G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885279G>T Locations: - p.Ala1205Ser (Ensembl:ENST00000324219) - c.3613G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098463853 | 1205 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101885280C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101885280C>T Locations: - p.Ala1205Val (Ensembl:ENST00000324219) - c.3614C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV105876755 | 1208 | K>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101888933A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101888933A>G Locations: - p.Lys1208Glu (cosmic curated:ENST00000324219) - c.3622A>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs769890724 | 1210 | G>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101887094G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887094G>T Locations: - p.Gly1210Ter (Ensembl:ENST00000324219) - c.3628G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs762943264 | 1212 | L>F | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887102G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887102G>T Locations: - p.Leu1212Phe (Ensembl:ENST00000324219) - c.3636G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1429283590 | 1213 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.101887104T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887104T>C Locations: - p.Val1213Ala (Ensembl:ENST00000324219) - c.3638T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56340176 | 1213 | S>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101891179C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101891179C>G Locations: - p.Ser1213Cys (cosmic curated:ENST00000324219) - c.3638C>G (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098499961 | 1213 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000002.12:g.101887103G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887103G>T Locations: - p.Val1213Leu (Ensembl:ENST00000324219) - c.3637G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56329804 | 1215 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101891184C>T Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101891184C>T Locations: - p.R1215W (NCI-TCGA:ENST00000324219) - p.Arg1215Trp (cosmic curated:ENST00000324219) - c.3643C>T (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV56326058 | 1217 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101891191G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101891191G>A Locations: - p.Gly1217Asp (cosmic curated:ENST00000324219) - c.3650G>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV106450414 | 1223 | Y>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101891210T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101891210T>A Locations: - p.Tyr1223Ter (cosmic curated:ENST00000324219) - c.3669T>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV107392264 | 1228 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101891223G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101891223G>C Locations: - p.Gly1228Arg (cosmic curated:ENST00000324219) - c.3682G>C (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
COSV100154302 | 1232 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.101891235C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.101891235C>A Locations: - p.Leu1232Ile (cosmic curated:ENST00000324219) - c.3694C>A (cosmic curated:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1184711697 | 1236 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887172T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887172T>C Locations: - p.Cys1236Arg (Ensembl:ENST00000324219) - c.3706T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs371990136 | 1236 | C>S | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000002.12:g.101887173G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887173G>C Locations: - p.Cys1236Ser (Ensembl:ENST00000324219) - c.3707G>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs371990136 | 1236 | C>Y | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887173G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887173G>A Locations: - p.Cys1236Tyr (Ensembl:ENST00000324219) - c.3707G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs767341279 | 1237 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887176C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887176C>G Locations: - p.Ala1237Gly (Ensembl:ENST00000324219) - c.3710C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs767341279 | 1237 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887176C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887176C>T Locations: - p.Ala1237Val (Ensembl:ENST00000324219) - c.3710C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs56349102 | 1242 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.459) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887190G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887190G>A Locations: - p.Val1242Ile (Ensembl:ENST00000324219) - c.3724G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs560875389 | 1245 | D>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101887200A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887200A>C Locations: - p.Asp1245Ala (Ensembl:ENST00000324219) - c.3734A>C (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1273216893 | 1250 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887215A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887215A>G Locations: - p.Tyr1250Cys (Ensembl:ENST00000324219) - c.3749A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1266630226 | 1252 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.362) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887220A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887220A>C Locations: - p.Ile1252Leu (Ensembl:ENST00000324219) - c.3754A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1317901896 | 1258 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887778A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887778A>C Locations: - p.Ile1258Leu (Ensembl:ENST00000324219) - c.3772A>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1407863249 | 1259 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887783G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887783G>T Locations: - p.Gln1259His (Ensembl:ENST00000324219) - c.3777G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs184817270 | 1261 | S>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000002.12:g.101887787A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887787A>G Locations: - p.Ser1261Gly (Ensembl:ENST00000324219) - c.3781A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs764877509 | 1263 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887794A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887794A>G Locations: - p.Lys1263Arg (Ensembl:ENST00000324219) - c.3788A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1338472844 | 1264 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887797C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887797C>A Locations: - p.Pro1264His (Ensembl:ENST00000324219) - c.3791C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098509649 | 1265 | H>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887799C>G Codon: CAT/GAT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887799C>G Locations: - p.His1265Asp (Ensembl:ENST00000324219) - c.3793C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs757893124 | 1266 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887803C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887803C>G Locations: - p.Ala1266Gly (Ensembl:ENST00000324219) - c.3797C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1265017257 | 1267 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.755) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101887805A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887805A>G Locations: - p.Ile1267Val (Ensembl:ENST00000324219) - c.3799A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098509818 | 1268 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887808A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887808A>G Locations: - p.Ile1268Val (Ensembl:ENST00000324219) - c.3802A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1254834392 | 1269 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.448) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887812T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887812T>C Locations: - p.Ile1269Thr (Ensembl:ENST00000324219) - c.3806T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1577480788 | 1269 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887811A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887811A>G Locations: - p.Ile1269Val (Ensembl:ENST00000324219) - c.3805A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098509906 | 1271 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887818C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887818C>T Locations: - p.Pro1271Leu (Ensembl:ENST00000324219) - c.3812C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs376643349 | 1272 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887821A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887821A>G Locations: - p.Asn1272Ser (Ensembl:ENST00000324219) - c.3815A>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs781353896 | 1276 | M>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887832A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887832A>G Locations: - p.Met1276Val (Ensembl:ENST00000324219) - c.3826A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1577481416 | 1280 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887845T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887845T>C Locations: - p.Val1280Ala (Ensembl:ENST00000324219) - c.3839T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1471865541 | 1280 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887844G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887844G>T Locations: - p.Val1280Leu (Ensembl:ENST00000324219) - c.3838G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1452605418 | 1285 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.101887859G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887859G>T Locations: - p.Glu1285Ter (Ensembl:ENST00000324219) - c.3853G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098510179 | 1287 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.303) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887865G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887865G>A Locations: - p.Val1287Ile (Ensembl:ENST00000324219) - c.3859G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs756300078 | 1289 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887871G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887871G>A Locations: - p.Val1289Ile (Ensembl:ENST00000324219) - c.3865G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1416784118 | 1294 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.518) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887886A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887886A>G Locations: - p.Arg1294Gly (Ensembl:ENST00000324219) - c.3880A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs988610790 | 1295 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887889A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887889A>G Locations: - p.Ile1295Val (Ensembl:ENST00000324219) - c.3883A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098510404 | 1300 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887904G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887904G>A Locations: - p.Val1300Ile (Ensembl:ENST00000324219) - c.3898G>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs368749725 | 1301 | L>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.662) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887907C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887907C>G Locations: - p.Leu1301Val (Ensembl:ENST00000324219) - c.3901C>G (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs2098510490 | 1306 | M>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887922A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887922A>T Locations: - p.Met1306Leu (Ensembl:ENST00000324219) - c.3916A>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098510508 | 1306 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101887923T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101887923T>C Locations: - p.Met1306Thr (Ensembl:ENST00000324219) - c.3917T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1488411925 | 1315 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888808C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888808C>T Locations: - p.Ser1315Phe (Ensembl:ENST00000324219) - c.3944C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs770607337 | 1316 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888811A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888811A>G Locations: - p.Asn1316Ser (Ensembl:ENST00000324219) - c.3947A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1228771899 | 1317 | Q>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888813C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888813C>A Locations: - p.Gln1317Lys (Ensembl:ENST00000324219) - c.3949C>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1340826022 | 1318 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.472) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.101888816A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888816A>G Locations: - p.Thr1318Ala (Ensembl:ENST00000324219) - c.3952A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1559353201 | 1319 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888819A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888819A>G Locations: - p.Met1319Val (Ensembl:ENST00000324219) - c.3955A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1236313614 | 1330 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888853C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888853C>G Locations: - p.Ser1330Cys (Ensembl:ENST00000324219) - c.3989C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1389376060 | 1330 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888852T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888852T>A Locations: - p.Ser1330Thr (Ensembl:ENST00000324219) - c.3988T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1418053197 | 1333 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888862C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888862C>T Locations: - p.Thr1333Ile (Ensembl:ENST00000324219) - c.3998C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1427545176 | 1335 | H>R | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888868A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888868A>G Locations: - p.His1335Arg (Ensembl:ENST00000324219) - c.4004A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1166592141 | 1336 | L>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888871T>G Codon: TTG/TGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888871T>G Locations: - p.Leu1336Trp (Ensembl:ENST00000324219) - c.4007T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs2098525268 | 1343 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888892A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888892A>G Locations: - p.Lys1343Arg (Ensembl:ENST00000324219) - c.4028A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs769574320 | 1348 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888907T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888907T>C Locations: - p.Leu1348Pro (Ensembl:ENST00000324219) - c.4043T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1381812188 | 1350 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888914C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888914C>G Locations: - p.Phe1350Leu (Ensembl:ENST00000324219) - c.4050C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs762573853 | 1354 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101888925G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101888925G>A Locations: - p.Arg1354His (Ensembl:ENST00000324219) - c.4061G>A (Ensembl:ENST00000324219) Source type: large scale study | |||||||
rs1443500806 | 1359 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101891169T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101891169T>G Locations: - p.Phe1359Val (Ensembl:ENST00000324219) - c.4075T>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs748999364 | 1363 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101891182T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101891182T>C Locations: - p.Val1363Ala (Ensembl:ENST00000324219) - c.4088T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1414117423 | 1364 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101891184C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101891184C>G Locations: - p.Arg1364Gly (Ensembl:ENST00000324219) - c.4090C>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1176265485 | 1365 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101891187T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101891187T>C Locations: - p.Ser1365Pro (Ensembl:ENST00000324219) - c.4093T>C (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs953374438 | 1366 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.858) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101891191G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101891191G>T Locations: - p.Gly1366Val (Ensembl:ENST00000324219) - c.4097G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1158525545 | 1368 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101891196A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101891196A>G Locations: - p.Ser1368Gly (Ensembl:ENST00000324219) - c.4102A>G (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1416433397 | 1375 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.661) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101891218C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101891218C>T Locations: - p.Thr1375Ile (Ensembl:ENST00000324219) - c.4124C>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1335074100 | 1378 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101891228G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101891228G>T Locations: - p.Arg1378Ser (Ensembl:ENST00000324219) - c.4134G>T (Ensembl:ENST00000324219) Source type: large scale study Cross-references: | |||||||
rs1446318392 | 1382 | L>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.101891239T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 2q11.2 Genomic location: NC_000002.12:g.101891239T>A Locations: - p.Leu1382Gln (Ensembl:ENST00000324219) - c.4145T>A (Ensembl:ENST00000324219) Source type: large scale study Cross-references: |