F5H6U7 · F5H6U7_HUMAN
- ProteinGolgi transport 1B
- GeneGOLT1B
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids128 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV57553472 | 1 | M>? | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21501926G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21501926G>A Locations: - p.Met1? (cosmic curated:ENST00000540141) - c.3G>A (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1425838291 | 2 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000012.12:g.21501927A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21501927A>T Locations: - p.Ile2Phe (Ensembl:ENST00000540141) - c.4A>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs766811210 | 2 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.698) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000012.12:g.21501929C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21501929C>G Locations: - p.Ile2Met (Ensembl:ENST00000540141) - c.6C>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs767113881 | 3 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000012.12:g.21501931C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21501931C>T Locations: - p.Ser3Phe (Ensembl:ENST00000540141) - c.8C>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1463744082 | 4 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000012.12:g.21501933T>G Codon: TTA/GTA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21501933T>G Locations: - p.Leu4Val (Ensembl:ENST00000540141) - c.10T>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1591758599 | 5 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.303) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.21501936A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21501936A>G Locations: - p.Thr5Ala (Ensembl:ENST00000540141) - c.13A>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553073 | 6 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21501939G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21501939G>A Locations: - p.Asp6Asn (cosmic curated:ENST00000540141) - c.16G>A (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1396957380 | 6 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21501939G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21501939G>T Locations: - p.Asp6Tyr (Ensembl:ENST00000540141) - c.16G>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1445695470 | 7 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.188) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000012.12:g.21501943C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21501943C>T Locations: - p.Thr7Met (Ensembl:ENST00000540141) - c.20C>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1295401826 | 9 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000012.12:g.21506885A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506885A>G Locations: - p.Lys9Arg (Ensembl:ENST00000540141) - c.26A>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs767052565 | 10 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.21506888T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506888T>C Locations: - p.Ile10Thr (Ensembl:ENST00000540141) - c.29T>C (Ensembl:ENST00000540141) Source type: large scale study | |||||||
COSV57553627 | 12 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21506895G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21506895G>T Locations: - p.Met12Ile (cosmic curated:ENST00000540141) - c.36G>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553920 rs1943682734 | 12 | M>V | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000012.12:g.21506893A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506893A>G Locations: - p.Met12Val (Ensembl:ENST00000540141) - c.34A>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV99981954 | 15 | T>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21506902A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21506902A>G Locations: - p.Thr15Ala (cosmic curated:ENST00000540141) - c.43A>G (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs760173283 | 15 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000012.12:g.21506902A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506902A>T Locations: - p.Thr15Ser (Ensembl:ENST00000540141) - c.43A>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1319736862 | 16 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21506905G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506905G>A Locations: - p.Gly16Arg (Ensembl:ENST00000540141) - c.46G>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553249 | 17 | F>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21506909T>C Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506909T>C Locations: - p.F17S (NCI-TCGA:ENST00000540141) - p.Phe17Ser (cosmic curated:ENST00000540141) - c.50T>C (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs199777124 | 19 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.21506914G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506914G>A Locations: - p.Val19Met (Ensembl:ENST00000540141) - c.55G>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1404423069 | 21 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.21506922C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506922C>G Locations: - p.Phe21Leu (Ensembl:ENST00000540141) - c.63C>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs867521064 | 23 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000012.12:g.21506926T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506926T>C Locations: - p.Phe23Leu (Ensembl:ENST00000540141) - c.67T>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs766318516 | 23 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000012.12:g.21506928C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506928C>G Locations: - p.Phe23Leu (Ensembl:ENST00000540141) - c.69C>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553312 | 25 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21506933G>T Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506933G>T Locations: - p.G25V (NCI-TCGA:ENST00000540141) - p.Gly25Val (cosmic curated:ENST00000540141) - c.74G>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1229116426 | 29 | F>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21506945T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506945T>G Locations: - p.Phe29Cys (Ensembl:ENST00000540141) - c.86T>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1943683078 | 30 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21506947T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506947T>G Locations: - p.Phe30Val (Ensembl:ENST00000540141) - c.88T>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV99982006 rs1943683102 | 32 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.366) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.21506953A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506953A>G Locations: - p.K32E (NCI-TCGA:ENST00000540141) - p.Lys32Glu (Ensembl:ENST00000540141) - c.94A>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs201492982 | 32 | K>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000012.12:g.21506954A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506954A>G Locations: - p.Lys32Arg (Ensembl:ENST00000540141) - c.95A>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1276504976 | 33 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.21506956G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506956G>A Locations: - p.Ala33Thr (Ensembl:ENST00000540141) - c.97G>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs765122258 | 33 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000012.12:g.21506957C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506957C>T Locations: - p.Ala33Val (Ensembl:ENST00000540141) - c.98C>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1341156223 | 35 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21506963T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506963T>C Locations: - p.Leu35Pro (Ensembl:ENST00000540141) - c.104T>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs777857183 | 37 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.383) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.21506969T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506969T>C Locations: - p.Ile37Thr (Ensembl:ENST00000540141) - c.110T>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1300621443 | 37 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000012.12:g.21506968A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21506968A>G Locations: - p.Ile37Val (Ensembl:ENST00000540141) - c.109A>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553165 | 38 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21506972G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21506972G>T Locations: - p.Gly38Val (cosmic curated:ENST00000540141) - c.113G>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs200318646 | 40 | V>I | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.21508383G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508383G>A Locations: - p.Val40Ile (Ensembl:ENST00000540141) - c.118G>A (Ensembl:ENST00000540141) Source type: large scale study | |||||||
rs776179457 | 41 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.21508388A>C Codon: TTA/TTC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508388A>C Locations: - p.Leu41Phe (Ensembl:ENST00000540141) - c.123A>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553108 | 41 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508386T>G Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508386T>G Locations: - p.L41V (NCI-TCGA:ENST00000540141) - p.Leu41Val (cosmic curated:ENST00000540141) - c.121T>G (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1260451133 | 44 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000012.12:g.21508396C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508396C>T Locations: - p.Ala44Val (Ensembl:ENST00000540141) - c.131C>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553317 rs1405751490 | 45 | G>S | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000012.12:g.21508398G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508398G>A Locations: - p.Gly45Ser (Ensembl:ENST00000540141) - c.133G>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs762824979 | 49 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000012.12:g.21508410G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508410G>A Locations: - p.Val49Ile (Ensembl:ENST00000540141) - c.145G>A (Ensembl:ENST00000540141) Source type: large scale study | |||||||
rs762824979 | 49 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.21508410G>C, NC_000012.12:g.21508410G>T Codon: GTA/CTA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508410G>C, NC_000012.12:g.21508410G>T Locations: - p.Val49Leu (Ensembl:ENST00000540141) - c.145G>C (Ensembl:ENST00000540141) - c.145G>T (Ensembl:ENST00000540141) Source type: large scale study | |||||||
rs1230980004 | 51 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.21508417G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508417G>A Locations: - p.Gly51Asp (Ensembl:ENST00000540141) - c.152G>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs763937560 | 55 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21508428A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508428A>G Locations: - p.Thr55Ala (Ensembl:ENST00000540141) - c.163A>G (Ensembl:ENST00000540141) Source type: large scale study | |||||||
rs1354314127 | 55 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21508429C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508429C>T Locations: - p.Thr55Ile (Ensembl:ENST00000540141) - c.164C>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs915293344 | 56 | F>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.21508432T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508432T>G Locations: - p.Phe56Cys (Ensembl:ENST00000540141) - c.167T>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1215345764 | 57 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.21508435G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508435G>A Locations: - p.Arg57Lys (Ensembl:ENST00000540141) - c.170G>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57552973 | 58 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508439C>A Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508439C>A Locations: - p.F58L (NCI-TCGA:ENST00000540141) - p.Phe58Leu (cosmic curated:ENST00000540141) - c.174C>A (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV99982142 | 61 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508446C>T Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508446C>T Locations: - p.Q61* (NCI-TCGA:ENST00000540141) - p.Gln61Ter (cosmic curated:ENST00000540141) - c.181C>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs372982409 | 62 | K>N | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.21508451A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508451A>C Locations: - p.Lys62Asn (Ensembl:ENST00000540141) - c.186A>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs945451950 | 64 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.21508455A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508455A>G Locations: - p.Lys64Glu (Ensembl:ENST00000540141) - c.190A>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs751366542 | 64 | K>N | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.21508457A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508457A>C Locations: - p.Lys64Asn (Ensembl:ENST00000540141) - c.192A>C (Ensembl:ENST00000540141) Source type: large scale study | |||||||
COSV57553727 | 64 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508456A>G Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508456A>G Locations: - p.K64R (NCI-TCGA:ENST00000540141) - p.Lys64Arg (cosmic curated:ENST00000540141) - c.191A>G (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1943694731 | 65 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.79) Somatic: No Accession: NC_000012.12:g.21508460G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508460G>A Locations: - p.Met65Ile (Ensembl:ENST00000540141) - c.195G>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs762173690 | 65 | M>V | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000012.12:g.21508458A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508458A>G Locations: - p.Met65Val (Ensembl:ENST00000540141) - c.193A>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553042 | 66 | K>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508462A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21508462A>T Locations: - p.Lys66Ile (cosmic curated:ENST00000540141) - c.197A>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs767836925 | 67 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.854) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21508464G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508464G>C Locations: - p.Ala67Pro (Ensembl:ENST00000540141) - c.199G>C (Ensembl:ENST00000540141) Source type: large scale study | |||||||
rs1267148359 | 68 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000012.12:g.21508467A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508467A>T Locations: - p.Thr68Ser (Ensembl:ENST00000540141) - c.202A>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV99981919 | 69 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508470G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21508470G>T Locations: - p.Gly69Cys (cosmic curated:ENST00000540141) - c.205G>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1331411082 | 70 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000012.12:g.21508473T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508473T>C Locations: - p.Phe70Leu (Ensembl:ENST00000540141) - c.208T>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1226964052 | 71 | F>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21508476T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508476T>A Locations: - p.Phe71Ile (Ensembl:ENST00000540141) - c.211T>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV99981986 | 71 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508476T>G Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508476T>G Locations: - p.F71V (NCI-TCGA:ENST00000540141) - p.Phe71Val (cosmic curated:ENST00000540141) - c.211T>G (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV99981865 | 72 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508479C>A Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508479C>A Locations: - p.L72M (NCI-TCGA:ENST00000540141) - p.Leu72Met (cosmic curated:ENST00000540141) - c.214C>A (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV99982002 | 73 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508482G>T Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508482G>T Locations: - p.G73C (NCI-TCGA:ENST00000540141) - p.Gly73Cys (cosmic curated:ENST00000540141) - c.217G>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV99982119 | 74 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508485G>T Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508485G>T Locations: - p.G74C (NCI-TCGA:ENST00000540141) - p.Gly74Cys (cosmic curated:ENST00000540141) - c.220G>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1943694995 | 80 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000012.12:g.21508503A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508503A>G Locations: - p.Ile80Val (Ensembl:ENST00000540141) - c.238A>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs780623728 | 81 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21508507G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508507G>A Locations: - p.Gly81Asp (Ensembl:ENST00000540141) - c.242G>A (Ensembl:ENST00000540141) Source type: large scale study | |||||||
rs1367469877 | 83 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.787) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21508512C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508512C>T Locations: - p.Pro83Ser (Ensembl:ENST00000540141) - c.247C>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57554397 | 84 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508517G>C Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508517G>C Locations: - p.L84F (NCI-TCGA:ENST00000540141) - p.Leu84Phe (cosmic curated:ENST00000540141) - c.252G>C (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs377112868 | 84 | L>M | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.657) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000012.12:g.21508515T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508515T>A Locations: - p.Leu84Met (Ensembl:ENST00000540141) - c.250T>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57554012 rs1365815047 | 85 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000012.12:g.21508520A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508520A>G Locations: - p.I85M (NCI-TCGA:ENST00000540141) - p.Ile85Met (Ensembl:ENST00000540141) - c.255A>G (Ensembl:ENST00000540141) Source type: large scale study | |||||||
COSV57554025 | 86 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508521G>T Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508521G>T Locations: - p.G86C (NCI-TCGA:ENST00000540141) - p.Gly86Cys (cosmic curated:ENST00000540141) - c.256G>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1267854104 | 87 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000012.12:g.21508526G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508526G>T Locations: - p.Met87Ile (Ensembl:ENST00000540141) - c.261G>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs549420247 | 87 | M>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000012.12:g.21508524A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508524A>G Locations: - p.Met87Val (Ensembl:ENST00000540141) - c.259A>G (Ensembl:ENST00000540141) Source type: large scale study | |||||||
COSV99982104 | 88 | I>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508527A>T Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508527A>T Locations: - p.I88F (NCI-TCGA:ENST00000540141) - p.Ile88Phe (cosmic curated:ENST00000540141) - c.262A>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553813 | 89 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508530T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21508530T>C Locations: - p.Phe89Leu (cosmic curated:ENST00000540141) - c.265T>C (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1943695386 | 90 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21508533G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508533G>A Locations: - p.E90K (NCI-TCGA:ENST00000540141) - p.Glu90Lys (Ensembl:ENST00000540141) - c.268G>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV57553913 | 91 | I>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508538T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21508538T>G Locations: - p.Ile91Met (cosmic curated:ENST00000540141) - c.273T>G (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553040 | 91 | I>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508537T>G Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508537T>G Locations: - p.I91S (NCI-TCGA:ENST00000540141) - p.Ile91Ser (cosmic curated:ENST00000540141) - c.272T>G (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1049146374 | 91 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000012.12:g.21508537T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508537T>C Locations: - p.Ile91Thr (Ensembl:ENST00000540141) - c.272T>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs887907221 | 92 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21508539T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508539T>C Locations: - p.Tyr92His (Ensembl:ENST00000540141) - c.274T>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs779300870 | 93 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21508543G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508543G>C Locations: - p.Gly93Ala (Ensembl:ENST00000540141) - c.278G>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553734 | 94 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508546T>G Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508546T>G Locations: - p.F94C (NCI-TCGA:ENST00000540141) - p.Phe94Cys (cosmic curated:ENST00000540141) - c.281T>G (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553631 | 95 | F>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508548T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21508548T>A Locations: - p.Phe95Ile (cosmic curated:ENST00000540141) - c.283T>A (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553427 | 96 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508551C>A Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508551C>A Locations: - p.L96I (NCI-TCGA:ENST00000540141) - p.Leu96Ile (cosmic curated:ENST00000540141) - c.286C>A (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1308875746 | 96 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21508552T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508552T>C Locations: - p.Leu96Pro (Ensembl:ENST00000540141) - c.287T>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1943695622 | 97 | L>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21508555T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508555T>C Locations: - p.Leu97Ser (Ensembl:ENST00000540141) - c.290T>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1943695602 | 97 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.21508554T>G Codon: TTG/GTG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21508554T>G Locations: - p.Leu97Val (Ensembl:ENST00000540141) - c.289T>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553102 | 98 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21508557T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21508557T>C Locations: - p.Phe98Leu (cosmic curated:ENST00000540141) - c.292T>C (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs758707935 | 100 | G>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21512296G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512296G>T Locations: - p.Gly100Cys (Ensembl:ENST00000540141) - c.298G>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1943725602 | 100 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21512297G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512297G>T Locations: - p.Gly100Val (Ensembl:ENST00000540141) - c.299G>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs780924167 | 101 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21512300T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512300T>G Locations: - p.Phe101Cys (Ensembl:ENST00000540141) - c.302T>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1943725669 | 102 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000012.12:g.21512302T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512302T>C Locations: - p.Phe102Leu (Ensembl:ENST00000540141) - c.304T>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1591763133 | 103 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21512306C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512306C>G Locations: - p.Pro103Arg (Ensembl:ENST00000540141) - c.308C>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57554469 | 103 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21512305C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21512305C>T Locations: - p.Pro103Ser (cosmic curated:ENST00000540141) - c.307C>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553131 rs34378602 | 105 | V>I | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000012.12:g.21512311G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512311G>A Locations: - p.Val105Ile (Ensembl:ENST00000540141) - c.313G>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs748790942 | 106 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21512315T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512315T>C Locations: - p.Val106Ala (Ensembl:ENST00000540141) - c.317T>C (Ensembl:ENST00000540141) Source type: large scale study | |||||||
rs1401468123 | 106 | V>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000012.12:g.21512314G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512314G>T Locations: - p.Val106Phe (Ensembl:ENST00000540141) - c.316G>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs774362850 | 110 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.4) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21512327G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512327G>A Locations: - p.Arg110Lys (Ensembl:ENST00000540141) - c.329G>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553909 | 111 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21512330G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21512330G>A Locations: - p.Arg111Lys (cosmic curated:ENST00000540141) - c.332G>A (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57554047 | 111 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21512331A>T Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512331A>T Locations: - p.R111S (NCI-TCGA:ENST00000540141) - p.Arg111Ser (cosmic curated:ENST00000540141) - c.333A>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1943726134 | 112 | V>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.693) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21512333T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512333T>A Locations: - p.Val112Glu (Ensembl:ENST00000540141) - c.335T>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57553410 rs747969282 | 112 | V>L | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.4) Somatic: Yes Accession: NC_000012.12:g.21512332G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512332G>C Locations: - p.Val112Leu (Ensembl:ENST00000540141) - c.334G>C (Ensembl:ENST00000540141) Source type: large scale study | |||||||
rs747969282 | 112 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.21512332G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512332G>A Locations: - p.Val112Met (Ensembl:ENST00000540141) - c.334G>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1943726189 | 113 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21512336C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512336C>T Locations: - p.Pro113Leu (Ensembl:ENST00000540141) - c.338C>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV57552982 | 114 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21512339T>C Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512339T>C Locations: - p.V114A (NCI-TCGA:ENST00000540141) - p.Val114Ala (cosmic curated:ENST00000540141) - c.341T>C (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1943726237 | 115 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.21512341C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512341C>G Locations: - p.Leu115Val (Ensembl:ENST00000540141) - c.343C>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1943726255 | 117 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.21512348C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512348C>G Locations: - p.Ser117Cys (Ensembl:ENST00000540141) - c.350C>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs760856561 | 119 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.21512353C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512353C>G Locations: - p.Leu119Val (Ensembl:ENST00000540141) - c.355C>G (Ensembl:ENST00000540141) Source type: large scale study | |||||||
COSV57553026 | 121 | L>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21512360T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.21512360T>A Locations: - p.Leu121Ter (cosmic curated:ENST00000540141) - c.362T>A (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs766612381 | 121 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.21512359T>G Codon: TTA/GTA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512359T>G Locations: - p.Leu121Val (Ensembl:ENST00000540141) - c.361T>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1194677848 | 122 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.21512363C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512363C>A Locations: - p.Pro122His (Ensembl:ENST00000540141) - c.365C>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV99982147 | 124 | I>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.21512368A>T Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512368A>T Locations: - p.I124F (NCI-TCGA:ENST00000540141) - p.Ile124Phe (cosmic curated:ENST00000540141) - c.370A>T (cosmic curated:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1262816376 | 124 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.663) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.21512369T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512369T>C Locations: - p.Ile124Thr (Ensembl:ENST00000540141) - c.371T>C (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
COSV107212795 rs2136809258 | 125 | R>K | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.35) Somatic: Yes Accession: NC_000012.12:g.21512372G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512372G>A Locations: - p.Arg125Lys (Ensembl:ENST00000540141) - c.374G>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs74067037 | 126 | S>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.21512375C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21512375C>T Locations: - p.Ser126Leu (Ensembl:ENST00000540141) - c.377C>T (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1478199766 | 127 | T>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.21515239C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21515239C>A Locations: - p.Thr127Asn (Ensembl:ENST00000540141) - c.380C>A (Ensembl:ENST00000540141) Source type: large scale study Cross-references: | |||||||
rs1190396752 | 128 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000012.12:g.21515241A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 12p12.1 Genomic location: NC_000012.12:g.21515241A>G Locations: - p.Thr128Ala (Ensembl:ENST00000540141) - c.382A>G (Ensembl:ENST00000540141) Source type: large scale study Cross-references: |