Q8IVV8 · NKAI4_HUMAN
- ProteinSodium/potassium-transporting ATPase subunit beta-1-interacting protein 4
- GeneNKAIN4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids208 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs2067016268 | 3 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000020.11:g.63254443G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254443G>A Locations: - p.Ser3Phe (Ensembl:ENST00000370316) - c.8C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1049253974 | 3 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.483) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63254444A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254444A>G Locations: - p.Ser3Pro (Ensembl:ENST00000370316) - c.7T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1156439329 | 4 | C>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63254440C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254440C>A Locations: - p.Cys4Phe (Ensembl:ENST00000370316) - c.11G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1156439329 | 4 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63254440C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254440C>T Locations: - p.Cys4Tyr (Ensembl:ENST00000370316) - c.11G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs995676795 | 5 | S>C | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63254437G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254437G>C Locations: - p.Ser5Cys (Ensembl:ENST00000370316) - c.14C>G (Ensembl:ENST00000370316) Source type: large scale study | |||||||
TCGA novel | 5 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.837) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63254437G>A Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254437G>A Locations: - c.14C>T (NCI-TCGA:ENST00000370316) - p.S5F (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2067016014 | 6 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63254434C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254434C>T Locations: - p.Gly6Asp (Ensembl:ENST00000370316) - c.17G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs746592842 | 6 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63254435C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254435C>G Locations: - p.Gly6Arg (Ensembl:ENST00000370316) - c.16G>C (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs746592842 | 6 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.221) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000020.11:g.63254435C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254435C>T Locations: - p.Gly6Ser (Ensembl:ENST00000370316) - c.16G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs1462950742 | 7 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63254432G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254432G>A Locations: - p.Arg7Cys (Ensembl:ENST00000370316) - c.19C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs898707106 | 7 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63254431C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254431C>T Locations: - p.Arg7His (Ensembl:ENST00000370316) - c.20G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs898707106 | 7 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.63254431C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254431C>A Locations: - p.Arg7Leu (Ensembl:ENST00000370316) - c.20G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
TCGA novel | 9 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.98) Somatic: No Accession: NC_000020.11:g.63254426C>T Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254426C>T Locations: - c.25G>A (NCI-TCGA:ENST00000370316) - p.A9T (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel rs2067015864 | 9 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.51) - PolyPhen: benign (0.062) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000020.11:g.63254425G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254425G>A Locations: - p.A9V (NCI-TCGA:ENST00000370316) - p.Ala9Val (Ensembl:ENST00000370316) - c.26C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1243648644 | 10 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.63254423G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254423G>A Locations: - p.Leu10Phe (Ensembl:ENST00000370316) - c.28C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
TCGA novel | 11 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.63254420C>T Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254420C>T Locations: - c.31G>A (NCI-TCGA:ENST00000370316) - p.V11I (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2067015646 | 13 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000020.11:g.63254414G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254414G>A Locations: - p.Leu13Phe (Ensembl:ENST00000370316) - c.37C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2067015646 | 13 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000020.11:g.63254414G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254414G>C Locations: - p.Leu13Val (Ensembl:ENST00000370316) - c.37C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1601307332 | 15 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.63254408C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254408C>T Locations: - p.Ala15Thr (Ensembl:ENST00000370316) - c.43G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2067015508 | 16 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.63254405A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254405A>G Locations: - p.Phe16Leu (Ensembl:ENST00000370316) - c.46T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
TCGA novel | 17 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63254402G>A Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254402G>A Locations: - c.49C>T (NCI-TCGA:ENST00000370316) - p.Q17* (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs954372182 | 18 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63254398A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63254398A>C Locations: - p.Leu18Arg (Ensembl:ENST00000370316) - c.53T>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1197353353 | 19 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000020.11:g.63250072C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250072C>T Locations: - p.Val19Ile (Ensembl:ENST00000370316) - c.55G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV100941627 | 19 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.47) Somatic: Yes Accession: NC_000020.11:g.63250072C>G Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250072C>G Locations: - c.55G>C (NCI-TCGA:ENST00000370316) - p.V19L (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1368401139 | 20 | A>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63250068G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250068G>T Locations: - p.Ala20Asp (Ensembl:ENST00000370316) - c.59C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs370501778 | 20 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000020.11:g.63250069C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250069C>A Locations: - p.Ala20Ser (Ensembl:ENST00000370316) - c.58G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs370501778 | 20 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.96) Somatic: No Accession: NC_000020.11:g.63250069C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250069C>T Locations: - p.Ala20Thr (Ensembl:ENST00000370316) - c.58G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs775670008 | 21 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.63250066C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250066C>T Locations: - p.Ala21Thr (Ensembl:ENST00000370316) - c.61G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs895355092 | 24 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63250056C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250056C>T Locations: - p.Arg24Lys (Ensembl:ENST00000370316) - c.71G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs766396517 | 24 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63250055C>G Codon: AGG/AGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250055C>G Locations: - p.Arg24Ser (Ensembl:ENST00000370316) - c.72G>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs200569089 | 26 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63250050A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250050A>C Locations: - p.Val26Gly (Ensembl:ENST00000370316) - c.77T>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1033829064 | 26 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63250051C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250051C>T Locations: - p.Val26Met (Ensembl:ENST00000370316) - c.76G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs768630265 | 27 | F>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.555) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63250048A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250048A>C Locations: - p.Phe27Val (Ensembl:ENST00000370316) - c.79T>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066928703 | 28 | D>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63250044T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250044T>G Locations: - p.Asp28Ala (Ensembl:ENST00000370316) - c.83A>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV100941678 | 30 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000020.11:g.63250038A>G Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250038A>G Locations: - c.89T>C (NCI-TCGA:ENST00000370316) - p.L30P (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066928584 | 32 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63250031G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250031G>C Locations: - p.Tyr32Ter (Ensembl:ENST00000370316) - c.96C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
TCGA novel | 32 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63250032T>C Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250032T>C Locations: - c.95A>G (NCI-TCGA:ENST00000370316) - p.Y32C (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2066928496 | 34 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63250025_63250026insAGGAAGT Codon: TGG/TGACTTCCTG Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250025_63250026insAGGAAGT Locations: - p.Trp34Ter (Ensembl:ENST00000370316) - c.101_102insACTTCCT (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1227332773 | 34 | W>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63250025C>G Codon: TGG/TGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250025C>G Locations: - p.Trp34Cys (Ensembl:ENST00000370316) - c.102G>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1190517957 | 34 | W>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63250027A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250027A>C Locations: - p.Trp34Gly (Ensembl:ENST00000370316) - c.100T>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs145609111 | 35 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000020.11:g.63250023G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250023G>A Locations: - p.Ala35Val (Ensembl:ENST00000370316) - c.104C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1401557002 | 36 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63250021G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250021G>C Locations: - p.Pro36Ala (Ensembl:ENST00000370316) - c.106C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1401557002 | 36 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.63250021G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250021G>A Locations: - p.Pro36Ser (Ensembl:ENST00000370316) - c.106C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1171379481 | 37 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000020.11:g.63250018T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250018T>C Locations: - p.Ile37Val (Ensembl:ENST00000370316) - c.109A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
TCGA novel rs745496327 | 38 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.07) - PolyPhen: probably damaging (1) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000020.11:g.63250015G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250015G>T Locations: - p.L38M (NCI-TCGA:ENST00000370316) - p.Leu38Met (Ensembl:ENST00000370316) - c.112C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs745496327 | 38 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63250015G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250015G>C Locations: - p.Leu38Val (Ensembl:ENST00000370316) - c.112C>G (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs140342700 | 39 | A>D | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63250011G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250011G>T Locations: - p.Ala39Asp (Ensembl:ENST00000370316) - c.116C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1448044760 | 40 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63250009T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250009T>C Locations: - p.Asn40Asp (Ensembl:ENST00000370316) - c.118A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1448044760 | 40 | N>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63250009T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250009T>G Locations: - p.Asn40His (Ensembl:ENST00000370316) - c.118A>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066927826 | 42 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000020.11:g.63250002A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250002A>G Locations: - p.Val42Ala (Ensembl:ENST00000370316) - c.125T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066927853 | 42 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000020.11:g.63250003C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250003C>T Locations: - p.Val42Ile (Ensembl:ENST00000370316) - c.124G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs530591972 | 43 | H>Y | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.63250000G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63250000G>A Locations: - p.His43Tyr (Ensembl:ENST00000370316) - c.127C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs939996201 | 44 | I>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63249997T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249997T>A Locations: - p.Ile44Phe (Ensembl:ENST00000370316) - c.130A>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs939996201 | 44 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.625) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.63249997T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249997T>C Locations: - p.Ile44Val (Ensembl:ENST00000370316) - c.130A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs756633027 | 45 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000020.11:g.63249994T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249994T>C Locations: - p.Ile45Val (Ensembl:ENST00000370316) - c.133A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs753159661 | 46 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000020.11:g.63249990A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249990A>G Locations: - p.Ile46Thr (Ensembl:ENST00000370316) - c.137T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1339932432 | 46 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.63249991T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249991T>C Locations: - p.Ile46Val (Ensembl:ENST00000370316) - c.136A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV64786487 rs755318428 | 47 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.17) - PolyPhen: benign (0.062) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.00002008 (gnomAD) Accession: NC_000020.11:g.63249988C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249988C>T Locations: - p.V47I (NCI-TCGA:ENST00000370316) - p.Val47Ile (Ensembl:ENST00000370316) - c.139G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs751968916 | 49 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63249981A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249981A>G Locations: - p.Leu49Pro (Ensembl:ENST00000370316) - c.146T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs932722520 | 50 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.63249978C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249978C>T Locations: - p.Gly50Glu (Ensembl:ENST00000370316) - c.149G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV64785339 | 53 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000020.11:g.63249970C>A Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249970C>A Locations: - c.157G>T (NCI-TCGA:ENST00000370316) - p.G53C (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs147137550 | 53 | G>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63249970C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249970C>T Locations: - p.Gly53Ser (Ensembl:ENST00000370316) - c.157G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs750484392 | 54 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000020.11:g.63249967T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249967T>C Locations: - p.Thr54Ala (Ensembl:ENST00000370316) - c.160A>G (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs989972902 | 54 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63249966G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249966G>A Locations: - p.Thr54Ile (Ensembl:ENST00000370316) - c.161C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs750484392 | 54 | T>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63249967T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249967T>G Locations: - p.Thr54Pro (Ensembl:ENST00000370316) - c.160A>C (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs765242676 | 56 | Q>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63249961G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249961G>A Locations: - p.Gln56Ter (Ensembl:ENST00000370316) - c.166C>T (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs201285820 | 56 | Q>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63249959C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249959C>G Locations: - p.Gln56His (Ensembl:ENST00000370316) - c.168G>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs760590909 | 56 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63249960T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249960T>C Locations: - p.Gln56Arg (Ensembl:ENST00000370316) - c.167A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs553448751 | 58 | R>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63249955G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249955G>C Locations: - p.Arg58Gly (Ensembl:ENST00000370316) - c.172C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs202109120 | 58 | R>Q | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63249954C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249954C>T Locations: - p.Arg58Gln (Ensembl:ENST00000370316) - c.173G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs553448751 | 58 | R>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000020.11:g.63249955G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249955G>A Locations: - p.Arg58Trp (Ensembl:ENST00000370316) - c.172C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1472233040 | 59 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.63249951A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249951A>G Locations: - p.Leu59Pro (Ensembl:ENST00000370316) - c.176T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs577285022 | 60 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000020.11:g.63249949G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249949G>A Locations: - p.R60C (NCI-TCGA:ENST00000370316) - p.Arg60Cys (Ensembl:ENST00000370316) - c.178C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs749009324 | 60 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63249948C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249948C>T Locations: - p.Arg60His (Ensembl:ENST00000370316) - c.179G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs749009324 | 60 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.63249948C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249948C>G Locations: - p.Arg60Pro (Ensembl:ENST00000370316) - c.179G>C (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs927081 | 61 | Y>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63249944A>T Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249944A>T Locations: - p.Tyr61Ter (Ensembl:ENST00000370316) - c.183T>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1437902652 | 61 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63249945T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249945T>C Locations: - p.Tyr61Cys (Ensembl:ENST00000370316) - c.182A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066926406 | 61 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63249946A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249946A>G Locations: - p.Tyr61His (Ensembl:ENST00000370316) - c.181T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs769217545 | 62 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.63249943C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249943C>T Locations: - p.Val62Ile (Ensembl:ENST00000370316) - c.184G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs781529346 | 63 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000020.11:g.63249939A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249939A>G Locations: - p.Met63Thr (Ensembl:ENST00000370316) - c.188T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs748638063 | 63 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.63249940T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249940T>C Locations: - p.Met63Val (Ensembl:ENST00000370316) - c.187A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1247014149 | 64 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000020.11:g.63249936A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63249936A>C Locations: - p.Val64Gly (Ensembl:ENST00000370316) - c.191T>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2123107215 | 65 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63248893G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248893G>C Locations: - p.Tyr65Ter (Ensembl:ENST00000370316) - c.195C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs762818072 | 65 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63248895A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248895A>G Locations: - p.Tyr65His (Ensembl:ENST00000370316) - c.193T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV64785401 rs750271376 | 66 | T>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.787) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000020.11:g.63248891G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248891G>A Locations: - p.Thr66Met (Ensembl:ENST00000370316) - c.197C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2123107151 | 67 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.63248889G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248889G>C Locations: - p.Leu67Val (Ensembl:ENST00000370316) - c.199C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs999006502 | 68 | W>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.753) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63248885C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248885C>G Locations: - p.Trp68Ser (Ensembl:ENST00000370316) - c.203G>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066906938 | 69 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.759) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.63248883C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248883C>G Locations: - p.Ala69Pro (Ensembl:ENST00000370316) - c.205G>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
TCGA novel | 70 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.63248880C>A Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248880C>A Locations: - c.208G>T (NCI-TCGA:ENST00000370316) - p.A70S (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs775941026 | 70 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000020.11:g.63248879G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248879G>A Locations: - p.Ala70Val (Ensembl:ENST00000370316) - c.209C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs111954717 | 71 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000020.11:g.63248877C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248877C>T Locations: - p.Val71Ile (Ensembl:ENST00000370316) - c.211G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs1363920778 | 72 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63248872C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248872C>T Locations: - p.Trp72Ter (Ensembl:ENST00000370316) - c.216G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs776002889 | 73 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000020.11:g.63248871C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248871C>T Locations: - p.Val73Ile (Ensembl:ENST00000370316) - c.217G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066906576 | 74 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63248867G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248867G>A Locations: - p.Thr74Ile (Ensembl:ENST00000370316) - c.221C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV100941639 | 75 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.63248863C>T Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248863C>T Locations: - c.225G>A (NCI-TCGA:ENST00000370316) - p.W75* (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1601291458 | 76 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63248862T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248862T>G Locations: - p.Asn76His (Ensembl:ENST00000370316) - c.226A>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs772619197 | 76 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63248860G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248860G>T Locations: - p.Asn76Lys (Ensembl:ENST00000370316) - c.228C>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
COSV64784700 | 76 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000020.11:g.63248861T>C Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248861T>C Locations: - c.227A>G (NCI-TCGA:ENST00000370316) - p.N76S (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs150737368 | 77 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.51) - PolyPhen: benign (0.038) - SIFT: tolerated (0.59) Somatic: No Population frequencies: - MAF: 0.00004402 (gnomAD) Accession: NC_000020.11:g.63248859C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248859C>T Locations: - p.V77I (NCI-TCGA:ENST00000370316) - p.Val77Ile (Ensembl:ENST00000370316) - c.229G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs369302747 | 78 | F>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63248855A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248855A>G Locations: - p.Phe78Ser (Ensembl:ENST00000370316) - c.233T>C (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs141264539 | 79 | I>V | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000020.11:g.63248853T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248853T>C Locations: - p.Ile79Val (Ensembl:ENST00000370316) - c.235A>G (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs749538983 | 81 | C>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63248847A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248847A>G Locations: - p.Cys81Arg (Ensembl:ENST00000370316) - c.241T>C (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs2123106707 | 82 | F>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63248843A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248843A>C Locations: - p.Phe82Cys (Ensembl:ENST00000370316) - c.245T>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV64786058 | 82 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000020.11:g.63248844A>C Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248844A>C Locations: - c.244T>G (NCI-TCGA:ENST00000370316) - p.F82V (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1247707514 | 83 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63248840T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248840T>C Locations: - p.Tyr83Cys (Ensembl:ENST00000370316) - c.248A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1247707514 | 83 | Y>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63248840T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248840T>G Locations: - p.Tyr83Ser (Ensembl:ENST00000370316) - c.248A>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1186889227 | 84 | L>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63248837A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248837A>T Locations: - p.Leu84Gln (Ensembl:ENST00000370316) - c.251T>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs867150672 | 85 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.753) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63248835C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248835C>T Locations: - p.Glu85Lys (Ensembl:ENST00000370316) - c.253G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs565172154 | 87 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.63248829C>G Codon: GGT/CGT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248829C>G Locations: - p.Gly87Arg (Ensembl:ENST00000370316) - c.259G>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV64786751 rs565172154 | 87 | G>S | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000020.11:g.63248829C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248829C>T Locations: - p.Gly87Ser (Ensembl:ENST00000370316) - c.259G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs142657484 | 88 | G>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63248826C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248826C>A Locations: - p.Gly88Cys (Ensembl:ENST00000370316) - c.262G>T (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs142657484 | 88 | G>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63248826C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248826C>T Locations: - p.Gly88Ser (Ensembl:ENST00000370316) - c.262G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
COSV64784830 rs201793448 | 89 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000020.11:g.63248823G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248823G>A Locations: - p.L89F (NCI-TCGA:ENST00000370316) - p.Leu89Phe (Ensembl:ENST00000370316) - c.265C>T (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs1129659 | 91 | K>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63248817T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248817T>A Locations: - p.Lys91Ter (Ensembl:ENST00000370316) - c.271A>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
VAR_037051 COSV64785768 rs1129659 | 91 | K>Q | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.63248817T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63248817T>G Locations: - p.Lys91Gln (UniProt:Q8IVV8) Source type: mixed | |||||||
rs148922292 | 92 | D>N | Variant of uncertain significance (Ensembl) | ESP TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247775C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247775C>T Locations: - p.Asp92Asn (Ensembl:ENST00000370316) - c.274G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs946615300 | 93 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247772T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247772T>C Locations: - p.Ser93Gly (Ensembl:ENST00000370316) - c.277A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1164324805 | 93 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000020.11:g.63247770G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247770G>T Locations: - p.Ser93Arg (Ensembl:ENST00000370316) - c.279C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1490261271 | 94 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.63247768T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247768T>C Locations: - p.Glu94Gly (Ensembl:ENST00000370316) - c.281A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs758208335 | 94 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.63247769C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247769C>T Locations: - p.Glu94Lys (Ensembl:ENST00000370316) - c.280G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs758208335 | 94 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.539) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63247769C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247769C>G Locations: - p.Glu94Gln (Ensembl:ENST00000370316) - c.280G>C (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs2066887587 | 97 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247759G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247759G>A Locations: - p.Thr97Ile (Ensembl:ENST00000370316) - c.290C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1410208328 | 98 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247756A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247756A>C Locations: - p.Phe98Cys (Ensembl:ENST00000370316) - c.293T>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1410208328 | 98 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247756A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247756A>G Locations: - p.Phe98Ser (Ensembl:ENST00000370316) - c.293T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs552629665 | 99 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.438) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63247752G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247752G>T Locations: - p.Ser99Arg (Ensembl:ENST00000370316) - c.297C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV99059107 rs1482984117 | 101 | S>F | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000020.11:g.63247747G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247747G>A Locations: - p.Ser101Phe (Ensembl:ENST00000370316) - c.302C>T (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs1013705958 | 101 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63247748A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247748A>G Locations: - p.Ser101Pro (Ensembl:ENST00000370316) - c.301T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs987782647 | 102 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000020.11:g.63247745G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247745G>C Locations: - p.Arg102Gly (Ensembl:ENST00000370316) - c.304C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs778530273 | 102 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000020.11:g.63247744C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247744C>T Locations: - p.Arg102Gln (Ensembl:ENST00000370316) - c.305G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs987782647 | 102 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000020.11:g.63247745G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247745G>A Locations: - p.Arg102Trp (Ensembl:ENST00000370316) - c.304C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1489006197 | 103 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.63247741T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247741T>C Locations: - p.His103Arg (Ensembl:ENST00000370316) - c.308A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066887100 | 103 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63247742G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247742G>A Locations: - p.His103Tyr (Ensembl:ENST00000370316) - c.307C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs138818067 | 104 | R>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.63247739G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247739G>A Locations: - p.Arg104Cys (Ensembl:ENST00000370316) - c.310C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs927666296 | 104 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000020.11:g.63247738C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247738C>T Locations: - p.Arg104His (Ensembl:ENST00000370316) - c.311G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs753628332 | 105 | S>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247736A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247736A>C Locations: - p.Ser105Ala (Ensembl:ENST00000370316) - c.313T>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs888032938 | 106 | W>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63247732C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247732C>T Locations: - p.Trp106Ter (Ensembl:ENST00000370316) - c.317G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs766062224 | 108 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.716) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.63247727G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247727G>A Locations: - p.Arg108Cys (Ensembl:ENST00000370316) - c.322C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs980921395 | 108 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000020.11:g.63247726C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247726C>T Locations: - p.Arg108His (Ensembl:ENST00000370316) - c.323G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs980921395 | 108 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.63247726C>A Codon: CGT/CTT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247726C>A Locations: - p.Arg108Leu (Ensembl:ENST00000370316) - c.323G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs980921395 | 108 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.268) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.63247726C>G Codon: CGT/CCT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247726C>G Locations: - p.Arg108Pro (Ensembl:ENST00000370316) - c.323G>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs11906010 | 109 | E>D | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000020.11:g.63247722C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247722C>A Locations: - p.Glu109Asp (Ensembl:ENST00000370316) - c.327G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV64785360 rs773767863 | 110 | R>C | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.716) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000020.11:g.63247721G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247721G>A Locations: - p.Arg110Cys (Ensembl:ENST00000370316) - c.328C>T (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs76984019 | 110 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.63247720C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247720C>T Locations: - p.Arg110His (Ensembl:ENST00000370316) - c.329G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV99059104 rs76984019 | 110 | R>L | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000020.11:g.63247720C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247720C>A Locations: - p.Arg110Leu (Ensembl:ENST00000370316) - c.329G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs770063674 | 111 | W>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63247716C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247716C>T Locations: - p.Trp111Ter (Ensembl:ENST00000370316) - c.333G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs1170204174 | 112 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.569) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63247715G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247715G>C Locations: - p.Pro112Ala (Ensembl:ENST00000370316) - c.334C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs759894824 | 113 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63247712C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247712C>T Locations: - p.Gly113Ser (Ensembl:ENST00000370316) - c.337G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066886068 | 115 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.63247705A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247705A>G Locations: - p.Leu115Pro (Ensembl:ENST00000370316) - c.344T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1358986581 | 116 | H>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000020.11:g.63247702T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247702T>G Locations: - p.His116Pro (Ensembl:ENST00000370316) - c.347A>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1159919664 | 117 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63247700C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247700C>A Locations: - p.Glu117Ter (Ensembl:ENST00000370316) - c.349G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1159919664 | 117 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000020.11:g.63247700C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247700C>T Locations: - p.Glu117Lys (Ensembl:ENST00000370316) - c.349G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1036730371 | 117 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.63247699T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247699T>A Locations: - p.Glu117Val (Ensembl:ENST00000370316) - c.350A>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1472303147 | 118 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63247697C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247697C>A Locations: - p.Glu118Ter (Ensembl:ENST00000370316) - c.352G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066885595 | 118 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.682) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.63247696T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247696T>G Locations: - p.Glu118Ala (Ensembl:ENST00000370316) - c.353A>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1472303147 | 118 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000020.11:g.63247697C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247697C>T Locations: - p.Glu118Lys (Ensembl:ENST00000370316) - c.352G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066885595 | 118 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000020.11:g.63247696T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247696T>A Locations: - p.Glu118Val (Ensembl:ENST00000370316) - c.353A>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1601287867 | 119 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.193) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247693A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247693A>C Locations: - p.Val119Gly (Ensembl:ENST00000370316) - c.356T>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs746602438 | 119 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000020.11:g.63247694C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247694C>T Locations: - p.Val119Met (Ensembl:ENST00000370316) - c.355G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs952266704 | 120 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000020.11:g.63247690G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247690G>A Locations: - p.Pro120Leu (Ensembl:ENST00000370316) - c.359C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs555212860 | 121 | A>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000020.11:g.63247688C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247688C>T Locations: - p.Ala121Thr (Ensembl:ENST00000370316) - c.361G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs2066885212 | 122 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.672) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247685C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247685C>T Locations: - p.Val122Met (Ensembl:ENST00000370316) - c.364G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
TCGA novel | 123 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000020.11:g.63247682C>G Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247682C>G Locations: - c.367G>C (NCI-TCGA:ENST00000370316) - p.G123R (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1434162368 | 123 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.63247681C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247681C>A Locations: - p.Gly123Val (Ensembl:ENST00000370316) - c.368G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs943827519 | 124 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000020.11:g.63247679G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247679G>A Locations: - p.Leu124Phe (Ensembl:ENST00000370316) - c.370C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2123097439 | 124 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000020.11:g.63247678A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247678A>C Locations: - p.Leu124Arg (Ensembl:ENST00000370316) - c.371T>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs763343250 | 125 | G>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000020.11:g.63247676C>T, NC_000020.11:g.63247676C>G Codon: GGG/AGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247676C>T, NC_000020.11:g.63247676C>G Locations: - p.Gly125Arg (Ensembl:ENST00000370316) - c.373G>A (Ensembl:ENST00000370316) - c.373G>C (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs773778167 | 125 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000020.11:g.63247675C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247675C>A Locations: - p.Gly125Val (Ensembl:ENST00000370316) - c.374G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs763343250 | 125 | G>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000020.11:g.63247676C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247676C>A Locations: - p.Gly125Trp (Ensembl:ENST00000370316) - c.373G>T (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs566900551 | 126 | A>D | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000020.11:g.63247672G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247672G>T Locations: - p.Ala126Asp (Ensembl:ENST00000370316) - c.377C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV64784949 rs770126206 | 126 | A>P | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.6) Somatic: Yes Accession: NC_000020.11:g.63247673C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247673C>G Locations: - p.Ala126Pro (Ensembl:ENST00000370316) - c.376G>C (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs566900551 | 126 | A>V | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000020.11:g.63247672G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247672G>A Locations: - p.Ala126Val (Ensembl:ENST00000370316) - c.377C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1019027705 | 127 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.193) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000020.11:g.63247670G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247670G>A Locations: - p.Pro127Ser (Ensembl:ENST00000370316) - c.379C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066884562 | 128 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.173) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.63247666T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247666T>C Locations: - p.His128Arg (Ensembl:ENST00000370316) - c.383A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1326446814 | 130 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.823) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000020.11:g.63247660T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247660T>A Locations: - p.Gln130Leu (Ensembl:ENST00000370316) - c.389A>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
VAR_037052 COSV64785391 rs2236194 | 131 | A>D | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.63247657G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247657G>T Locations: - p.Ala131Asp (UniProt:Q8IVV8) Source type: mixed | |||||||
rs2236194 | 131 | A>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.588) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000020.11:g.63247657G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247657G>C Locations: - p.Ala131Gly (Ensembl:ENST00000370316) - c.392C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV64785451 | 131 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: tolerated (0.88) Somatic: Yes Accession: NC_000020.11:g.63247658C>A Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247658C>A Locations: - c.391G>T (NCI-TCGA:ENST00000370316) - p.A131S (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066884418 | 131 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000020.11:g.63247658C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247658C>T Locations: - p.Ala131Thr (Ensembl:ENST00000370316) - c.391G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1405066828 | 132 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.63247654A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247654A>G Locations: - p.Leu132Pro (Ensembl:ENST00000370316) - c.395T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1405066828 | 132 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63247654A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247654A>T Locations: - p.Leu132Gln (Ensembl:ENST00000370316) - c.395T>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1334492401 | 135 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000020.11:g.63247645C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247645C>G Locations: - p.Gly135Ala (Ensembl:ENST00000370316) - c.404G>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1334492401 | 135 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000020.11:g.63247645C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247645C>T Locations: - p.Gly135Asp (Ensembl:ENST00000370316) - c.404G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1233842365 | 135 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000020.11:g.63247646C>G Codon: GGT/CGT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247646C>G Locations: - p.Gly135Arg (Ensembl:ENST00000370316) - c.403G>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1233842365 | 135 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000020.11:g.63247646C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247646C>T Locations: - p.Gly135Ser (Ensembl:ENST00000370316) - c.403G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1334492401 | 135 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.63247645C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247645C>A Locations: - p.Gly135Val (Ensembl:ENST00000370316) - c.404G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1330331227 | 137 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.63247640C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247640C>T Locations: - p.Gly137Ser (Ensembl:ENST00000370316) - c.409G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs200873761 | 139 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000020.11:g.63247633G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247633G>A Locations: - p.Ala139Val (Ensembl:ENST00000370316) - c.416C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1280432753 | 140 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247630A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247630A>G Locations: - p.Leu140Pro (Ensembl:ENST00000370316) - c.419T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066883721 | 141 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000020.11:g.63247626C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247626C>A Locations: - p.Glu141Asp (Ensembl:ENST00000370316) - c.423G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1367703395 | 142 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000020.11:g.63247624G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247624G>T Locations: - p.Pro142His (Ensembl:ENST00000370316) - c.425C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
TCGA novel | 142 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.329) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63247625G>A Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247625G>A Locations: - c.424C>T (NCI-TCGA:ENST00000370316) - p.P142S (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs778884781 | 144 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.63247619A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247619A>G Locations: - p.Tyr144His (Ensembl:ENST00000370316) - c.430T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066883597 | 144 | Y>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.63247618T>G Codon: TAT/TCT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247618T>G Locations: - p.Tyr144Ser (Ensembl:ENST00000370316) - c.431A>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1386508946 | 145 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000020.11:g.63247616C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247616C>A Locations: - p.Val145Leu (Ensembl:ENST00000370316) - c.433G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1386508946 | 145 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.63247616C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247616C>T Locations: - p.Val145Met (Ensembl:ENST00000370316) - c.433G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1568708090 | 147 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247609G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247609G>T Locations: - p.Ala147Asp (Ensembl:ENST00000370316) - c.440C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV64787628 rs1256223155 | 147 | A>T | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.753) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000020.11:g.63247610C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247610C>T Locations: - p.Ala147Thr (Ensembl:ENST00000370316) - c.439G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1466958421 | 148 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247606A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247606A>G Locations: - p.Leu148Pro (Ensembl:ENST00000370316) - c.443T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1174863559 | 148 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.53) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000020.11:g.63247607G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247607G>C Locations: - p.Leu148Val (Ensembl:ENST00000370316) - c.442C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1377434869 | 149 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247604G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247604G>T Locations: - p.His149Asn (Ensembl:ENST00000370316) - c.445C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
VAR_037053 COSV64785053 rs872808 | 151 | C>G | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.63247598A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247598A>C Locations: - p.Cys151Gly (UniProt:Q8IVV8) Source type: mixed | |||||||
rs872808 | 151 | C>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247598A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247598A>G Locations: - p.Cys151Arg (Ensembl:ENST00000370316) - c.451T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs872808 | 151 | C>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.85) Somatic: No Accession: NC_000020.11:g.63247598A>T Codon: TGC/AGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247598A>T Locations: - p.Cys151Ser (Ensembl:ENST00000370316) - c.451T>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV100941631 rs1248318710 | 151 | C>Y | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000020.11:g.63247597C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247597C>T Locations: - p.Cys151Tyr (Ensembl:ENST00000370316) - c.452G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs1463191489 | 152 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247594A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247594A>G Locations: - p.Leu152Pro (Ensembl:ENST00000370316) - c.455T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1277427818 | 153 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.63247590C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247590C>G Locations: - p.Gln153His (Ensembl:ENST00000370316) - c.459G>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1200979348 | 154 | I>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247589T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247589T>A Locations: - p.Ile154Phe (Ensembl:ENST00000370316) - c.460A>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs946673985 | 156 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.456) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247581G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247581G>C Locations: - p.Ile156Met (Ensembl:ENST00000370316) - c.468C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
TCGA novel | 157 | A>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: - Somatic: No Accession: NC_000020.11:g.63247578C>T Consequence type: - Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247578C>T Locations: - c.471G>A (NCI-TCGA:ENST00000370316) - p.A157= (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1052109367 | 157 | A>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247579G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247579G>T Locations: - p.Ala157Glu (Ensembl:ENST00000370316) - c.470C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs201902703 | 157 | A>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.156) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000020.11:g.63247580C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247580C>A Locations: - p.Ala157Ser (Ensembl:ENST00000370316) - c.469G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs201902703 | 157 | A>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.682) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63247580C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247580C>T Locations: - p.Ala157Thr (Ensembl:ENST00000370316) - c.469G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1052109367 | 157 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.853) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.63247579G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63247579G>A Locations: - p.Ala157Val (Ensembl:ENST00000370316) - c.470C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1249528709 | 158 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000020.11:g.63244084G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244084G>C Locations: - p.Leu158Val (Ensembl:ENST00000370316) - c.472C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs768363146 | 161 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63244074A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244074A>G Locations: - p.Phe161Ser (Ensembl:ENST00000370316) - c.482T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1311318985 | 162 | V>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.634) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63244071A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244071A>T Locations: - p.Val162Asp (Ensembl:ENST00000370316) - c.485T>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1321817791 | 162 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.77) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63244072C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244072C>A Locations: - p.Val162Phe (Ensembl:ENST00000370316) - c.484G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1231388302 | 163 | C>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.63244068C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244068C>G Locations: - p.Cys163Ser (Ensembl:ENST00000370316) - c.488G>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066811764 | 166 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.63244060G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244060G>A Locations: - p.Gln166Ter (Ensembl:ENST00000370316) - c.496C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1288898886 | 166 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.63244058C>G, NC_000020.11:g.63244058C>A Codon: CAG/CAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244058C>G, NC_000020.11:g.63244058C>A Locations: - p.Gln166His (Ensembl:ENST00000370316) - c.498G>C (Ensembl:ENST00000370316) - c.498G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1601276957 | 167 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63244056A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244056A>C Locations: - p.Val167Gly (Ensembl:ENST00000370316) - c.500T>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs112977482 | 168 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63244053A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244053A>G Locations: - p.Val168Ala (Ensembl:ENST00000370316) - c.503T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV53901173 rs573831787 | 169 | S>R | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000020.11:g.63244049G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244049G>T Locations: - p.Ser169Arg (Ensembl:ENST00000370316) - c.507C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV53901057 rs745364728 | 170 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated (0.05) - PolyPhen: benign (0.113) - SIFT: tolerated (0.09) Somatic: Yes Population frequencies: - MAF: 0.0000481 (gnomAD) Accession: NC_000020.11:g.63244048C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244048C>T Locations: - p.V170M (NCI-TCGA:ENST00000370316) - p.Val170Met (Ensembl:ENST00000370316) - c.508G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
COSV53901424 rs141841184 | 172 | T>M | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.446) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000020.11:g.63244041G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244041G>A Locations: - p.Thr172Met (Ensembl:ENST00000370316) - c.515C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
VAR_037054 rs11556207 | 173 | E>D | UniProt Ensembl dbSNP | ||||
Consequence: missense Somatic: No Accession: NC_000020.11:g.63244037C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244037C>A Locations: - p.Glu173Asp (UniProt:Q8IVV8) Source type: mixed | |||||||
rs780536321 | 173 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63244038T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244038T>C Locations: - p.Glu173Gly (Ensembl:ENST00000370316) - c.518A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs780536321 | 173 | E>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63244038T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244038T>A Locations: - p.Glu173Val (Ensembl:ENST00000370316) - c.518A>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs555765679 | 174 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63244036C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244036C>T Locations: - p.Glu174Lys (Ensembl:ENST00000370316) - c.520G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs533912810 | 175 | E>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.63244031C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244031C>A Locations: - p.Glu175Asp (Ensembl:ENST00000370316) - c.525G>T (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs1601276839 | 175 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63244033C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244033C>T Locations: - p.Glu175Lys (Ensembl:ENST00000370316) - c.523G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV53903459 | 176 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.812) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000020.11:g.63244030C>T Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244030C>T Locations: - c.526G>A (NCI-TCGA:ENST00000370316) - p.D176N (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs201583735 | 177 | S>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63244026C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63244026C>T Locations: - p.Ser177Asn (Ensembl:ENST00000370316) - c.530G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs200940789 | 178 | F>L | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.56) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.63242622A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242622A>C Locations: - p.Phe178Leu (Ensembl:ENST00000370316) - c.534T>G (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs758385036 | 179 | D>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63242621C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242621C>A Locations: - p.Asp179Tyr (Ensembl:ENST00000370316) - c.535G>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066776487 | 180 | F>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63242617A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242617A>C Locations: - p.Phe180Cys (Ensembl:ENST00000370316) - c.539T>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
TCGA novel | 180 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.605) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63242616G>T Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242616G>T Locations: - c.540C>A (NCI-TCGA:ENST00000370316) - p.F180L (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2066776487 | 180 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63242617A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242617A>G Locations: - p.Phe180Ser (Ensembl:ENST00000370316) - c.539T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs376587085 | 181 | I>M | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.63242613A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242613A>C Locations: - p.Ile181Met (Ensembl:ENST00000370316) - c.543T>G (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs535399604 | 181 | I>T | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC | |||
Consequence: missense Predictions: - PolyPhen: benign (0.364) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.63242614A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242614A>G Locations: - p.Ile181Thr (Ensembl:ENST00000370316) - c.542T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV99416797 rs1438919798 | 185 | D>V | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.63242602T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242602T>A Locations: - p.Asp185Val (Ensembl:ENST00000370316) - c.554A>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs760720826 | 186 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.63242599G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242599G>T Locations: - p.Pro186Gln (Ensembl:ENST00000370316) - c.557C>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs2066776162 | 186 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000020.11:g.63242600G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242600G>A Locations: - p.Pro186Ser (Ensembl:ENST00000370316) - c.556C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2123050880 | 187 | F>L | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63242597A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242597A>G Locations: - p.Phe187Leu (Ensembl:ENST00000370316) - c.559T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066776095 | 187 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.661) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.63242596A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242596A>G Locations: - p.Phe187Ser (Ensembl:ENST00000370316) - c.560T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs80100531 | 188 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.63242593G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242593G>A Locations: - p.Pro188Leu (Ensembl:ENST00000370316) - c.563C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs752484769 | 188 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000020.11:g.63242594G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242594G>A Locations: - p.Pro188Ser (Ensembl:ENST00000370316) - c.562C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1305092202 | 190 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000020.11:g.63242587T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242587T>C Locations: - p.Tyr190Cys (Ensembl:ENST00000370316) - c.569A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs759225370 | 190 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000020.11:g.63242588A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242588A>G Locations: - p.Tyr190His (Ensembl:ENST00000370316) - c.568T>C (Ensembl:ENST00000370316) Source type: large scale study | |||||||
TCGA novel | 190 | Y>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000020.11:g.63242588_63242589del Consequence type: frameshift Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242588_63242589del Locations: - c.567_568del (NCI-TCGA:ENST00000370316) - p.Y190Pfs*4 (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2123050687 | 191 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.63242584T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242584T>C Locations: - p.His191Arg (Ensembl:ENST00000370316) - c.572A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV99416987 | 191 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000020.11:g.63242585G>A Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242585G>A Locations: - c.571C>T (NCI-TCGA:ENST00000370316) - p.H191Y (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2066775578 | 192 | V>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000020.11:g.63242581A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242581A>T Locations: - p.Val192Asp (Ensembl:ENST00000370316) - c.575T>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs770669548 | 193 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000020.11:g.63242578T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242578T>C Locations: - p.Asn193Ser (Ensembl:ENST00000370316) - c.578A>G (Ensembl:ENST00000370316) Source type: large scale study | |||||||
COSV105091380 rs1450879995 | 197 | S>F | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.753) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000020.11:g.63242566G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242566G>A Locations: - p.Ser197Phe (Ensembl:ENST00000370316) - c.590C>T (Ensembl:ENST00000370316) Source type: large scale study | |||||||
COSV53901394 rs762342864 | 197 | S>P | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000020.11:g.63242567A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242567A>G Locations: - p.Ser197Pro (Ensembl:ENST00000370316) - c.589T>C (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs762342864 | 197 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000020.11:g.63242567A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242567A>T Locations: - p.Ser197Thr (Ensembl:ENST00000370316) - c.589T>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs772849486 | 198 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000020.11:g.63242563C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242563C>T Locations: - p.Ser198Asn (Ensembl:ENST00000370316) - c.593G>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV53900801 COSV53900801,COSV99416874 COSV99416874 | 199 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000020.11:g.63242561G>A Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242561G>A Locations: - c.595C>T (NCI-TCGA:ENST00000370316) - p.L199F (NCI-TCGA:ENST00000370316) Source type: large scale study | |||||||
COSV53900801 COSV53900801,COSV99416874 COSV99416874 | 199 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000020.11:g.63242561G>T Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242561G>T Locations: - c.595C>A (NCI-TCGA:ENST00000370316) - p.L199I (NCI-TCGA:ENST00000370316) Source type: large scale study | |||||||
rs1187458155 | 200 | L>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000020.11:g.63242557A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242557A>G Locations: - p.Leu200Ser (Ensembl:ENST00000370316) - c.599T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs748691145 | 202 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000020.11:g.63242552T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242552T>C Locations: - p.Lys202Glu (Ensembl:ENST00000370316) - c.604A>G (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs748691145 | 202 | K>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: tolerated - low confidence (0.47) Somatic: No Accession: NC_000020.11:g.63242552T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242552T>G Locations: - p.Lys202Gln (Ensembl:ENST00000370316) - c.604A>C (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs1258237902 | 202 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000020.11:g.63242551T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242551T>C Locations: - p.Lys202Arg (Ensembl:ENST00000370316) - c.605A>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1313538380 | 203 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: tolerated - low confidence (0.62) Somatic: No Accession: NC_000020.11:g.63242549G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242549G>C Locations: - p.Gln203Glu (Ensembl:ENST00000370316) - c.607C>G (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs781492419 | 203 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000020.11:g.63242547C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242547C>A Locations: - p.Gln203His (Ensembl:ENST00000370316) - c.609G>T (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs2123050258 | 204 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.65) Somatic: No Accession: NC_000020.11:g.63242545A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242545A>G Locations: - p.Val204Ala (Ensembl:ENST00000370316) - c.611T>C (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs769026539 | 204 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000020.11:g.63242546C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242546C>A Locations: - p.Val204Leu (Ensembl:ENST00000370316) - c.610G>T (Ensembl:ENST00000370316) Source type: large scale study | |||||||
rs769026539 | 204 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000020.11:g.63242546C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242546C>T Locations: - p.Val204Met (Ensembl:ENST00000370316) - c.610G>A (Ensembl:ENST00000370316) Source type: large scale study | |||||||
COSV99416515 | 205 | Y>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.63242541G>T Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242541G>T Locations: - c.615C>A (NCI-TCGA:ENST00000370316) - p.Y205* (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs747422095 | 205 | Y>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000020.11:g.63242542T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63242542T>A Locations: - p.Tyr205Phe (Ensembl:ENST00000370316) - c.614A>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs2123041054 | 207 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.63241504G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63241504G>T Locations: - p.Pro207His (Ensembl:ENST00000370316) - c.620C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
COSV99417017 | 207 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.886) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.63241504G>A Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63241504G>A Locations: - c.620C>T (NCI-TCGA:ENST00000370316) - p.P207L (NCI-TCGA:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1233052054 | 207 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000020.11:g.63241505G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63241505G>A Locations: - p.Pro207Ser (Ensembl:ENST00000370316) - c.619C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1233052054 | 207 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.63241505G>T Codon: TGC/TGA Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63241505G>T Locations: - p.Pro207Thr (Ensembl:ENST00000370316) - c.619C>A (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs750109793 | 208 | A>V | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.63241501G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63241501G>A Locations: - p.Ala208Val (Ensembl:ENST00000370316) - c.623C>T (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1294518604 | 209 | *>= | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000020.11:g.63241498del Codon: TAA/TA Consequence type: stop lost Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63241498del Locations: - p.Ter209= (Ensembl:ENST00000370316) - c.627del (Ensembl:ENST00000370316) Source type: large scale study Cross-references: | |||||||
rs1435178671 | 209 | *>L | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000020.11:g.63241499dup Codon: TAA/TTAA Consequence type: stop lost Cytogenetic band: 20q13.33 Genomic location: NC_000020.11:g.63241499dup Locations: - p.Ter209LeufsTer48 (Ensembl:ENST00000370316) - c.625dup (Ensembl:ENST00000370316) Source type: large scale study Cross-references: |