P57086 · SCND1_HUMAN
- ProteinSCAN domain-containing protein 1
- GeneSCAND1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids179 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV100018926 | 1 | M>? | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000020.11:g.35954284T>A Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954284T>A Locations: - p.M1? (NCI-TCGA:ENST00000305978) - p.Met1? (cosmic curated:ENST00000305978) - c.1A>T (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs965303870 | 2 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000020.11:g.35954280G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954280G>A Locations: - p.Ala2Val (Ensembl:ENST00000373991) - c.5C>T (Ensembl:ENST00000373991) - p.Ala2Val (Ensembl:ENST00000305978) - c.5C>T (Ensembl:ENST00000305978) - p.Ala2Val (Ensembl:ENST00000615116) - c.5C>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
COSV60004798 rs764899499 | 3 | A>T | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000020.11:g.35954278C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954278C>T Locations: - p.Ala3Thr (Ensembl:ENST00000305978) - c.7G>A (Ensembl:ENST00000305978) - p.Ala3Thr (Ensembl:ENST00000615116) - c.7G>A (Ensembl:ENST00000615116) - p.Ala3Thr (Ensembl:ENST00000373991) - c.7G>A (Ensembl:ENST00000373991) Source type: large scale study | |||||||
rs753359558 | 4 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000020.11:g.35954275T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954275T>C Locations: - p.Thr4Ala (Ensembl:ENST00000373991) - c.10A>G (Ensembl:ENST00000373991) - p.Thr4Ala (Ensembl:ENST00000305978) - c.10A>G (Ensembl:ENST00000305978) - p.Thr4Ala (Ensembl:ENST00000615116) - c.10A>G (Ensembl:ENST00000615116) Source type: large scale study | |||||||
COSV100018994 rs542379397 | 4 | T>K | cosmic curated 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.795) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000020.11:g.35954274G>T Codon: ACG/AAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954274G>T Locations: - p.Thr4Lys (Ensembl:ENST00000305978) - c.11C>A (Ensembl:ENST00000305978) - p.Thr4Lys (Ensembl:ENST00000615116) - c.11C>A (Ensembl:ENST00000615116) - p.Thr4Lys (Ensembl:ENST00000373991) - c.11C>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs542379397 | 4 | T>M | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000020.11:g.35954274G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954274G>A Locations: - p.Thr4Met (Ensembl:ENST00000615116) - c.11C>T (Ensembl:ENST00000615116) - p.Thr4Met (Ensembl:ENST00000305978) - c.11C>T (Ensembl:ENST00000305978) - p.Thr4Met (Ensembl:ENST00000373991) - c.11C>T (Ensembl:ENST00000373991) Source type: large scale study | |||||||
rs753359558 | 4 | T>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000020.11:g.35954275T>G Codon: ACG/CCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954275T>G Locations: - p.Thr4Pro (Ensembl:ENST00000615116) - c.10A>C (Ensembl:ENST00000615116) - p.Thr4Pro (Ensembl:ENST00000373991) - c.10A>C (Ensembl:ENST00000373991) - p.Thr4Pro (Ensembl:ENST00000305978) - c.10A>C (Ensembl:ENST00000305978) Source type: large scale study | |||||||
COSV60004862 rs1243165413 | 5 | E>D | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated - low confidence (0.1) Somatic: Yes Accession: NC_000020.11:g.35954270C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954270C>A Locations: - p.Glu5Asp (Ensembl:ENST00000305978) - c.15G>T (Ensembl:ENST00000305978) - p.Glu5Asp (Ensembl:ENST00000373991) - c.15G>T (Ensembl:ENST00000373991) - p.Glu5Asp (Ensembl:ENST00000615116) - c.15G>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
COSV100018907 | 6 | P>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.05) Somatic: Yes Accession: NC_000020.11:g.35954269G>C Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954269G>C Locations: - p.P6A (NCI-TCGA:ENST00000305978) - p.Pro6Ala (cosmic curated:ENST00000305978) - c.16C>G (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs774705431 | 6 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000020.11:g.35954268G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954268G>A Locations: - p.Pro6Leu (Ensembl:ENST00000373991) - c.17C>T (Ensembl:ENST00000373991) - p.Pro6Leu (Ensembl:ENST00000615116) - c.17C>T (Ensembl:ENST00000615116) - p.Pro6Leu (Ensembl:ENST00000305978) - c.17C>T (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs774705431 | 6 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.35954268G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954268G>C Locations: - p.Pro6Arg (Ensembl:ENST00000373991) - c.17C>G (Ensembl:ENST00000373991) - p.Pro6Arg (Ensembl:ENST00000615116) - c.17C>G (Ensembl:ENST00000615116) - p.Pro6Arg (Ensembl:ENST00000305978) - c.17C>G (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs773674168 | 7 | I>F | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.35954266T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954266T>A Locations: - p.Ile7Phe (Ensembl:ENST00000305978) - c.19A>T (Ensembl:ENST00000305978) - p.Ile7Phe (Ensembl:ENST00000373991) - c.19A>T (Ensembl:ENST00000373991) - p.Ile7Phe (Ensembl:ENST00000615116) - c.19A>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs773674168 | 7 | I>V | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000020.11:g.35954266T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954266T>C Locations: - p.Ile7Val (Ensembl:ENST00000373991) - c.19A>G (Ensembl:ENST00000373991) - p.Ile7Val (Ensembl:ENST00000305978) - c.19A>G (Ensembl:ENST00000305978) - p.Ile7Val (Ensembl:ENST00000615116) - c.19A>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
COSV60004879 | 8 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35954261C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35954261C>G Locations: - p.Leu8Phe (cosmic curated:ENST00000305978) - c.24G>C (cosmic curated:ENST00000305978) - p.Leu8Phe (cosmic curated:ENST00000615116) - c.24G>C (cosmic curated:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs748326845 | 8 | L>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000020.11:g.35954262A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954262A>G Locations: - p.Leu8Ser (Ensembl:ENST00000373991) - c.23T>C (Ensembl:ENST00000373991) - p.Leu8Ser (Ensembl:ENST00000305978) - c.23T>C (Ensembl:ENST00000305978) - p.Leu8Ser (Ensembl:ENST00000615116) - c.23T>C (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1346601466 | 8 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000020.11:g.35954263A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954263A>C Locations: - p.Leu8Val (Ensembl:ENST00000615116) - c.22T>G (Ensembl:ENST00000615116) - p.Leu8Val (Ensembl:ENST00000373991) - c.22T>G (Ensembl:ENST00000373991) - p.Leu8Val (Ensembl:ENST00000305978) - c.22T>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs748326845 | 8 | L>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.35954262A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954262A>C Locations: - p.Leu8Trp (Ensembl:ENST00000373991) - c.23T>G (Ensembl:ENST00000373991) - p.Leu8Trp (Ensembl:ENST00000305978) - c.23T>G (Ensembl:ENST00000305978) - p.Leu8Trp (Ensembl:ENST00000615116) - c.23T>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1232330610 | 9 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000020.11:g.35954259G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954259G>C Locations: - p.Ala9Gly (Ensembl:ENST00000305978) - c.26C>G (Ensembl:ENST00000305978) - p.Ala9Gly (Ensembl:ENST00000615116) - c.26C>G (Ensembl:ENST00000615116) - p.Ala9Gly (Ensembl:ENST00000373991) - c.26C>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1232330610 | 9 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000020.11:g.35954259G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954259G>A Locations: - p.Ala9Val (Ensembl:ENST00000305978) - c.26C>T (Ensembl:ENST00000305978) - p.Ala9Val (Ensembl:ENST00000373991) - c.26C>T (Ensembl:ENST00000373991) - p.Ala9Val (Ensembl:ENST00000615116) - c.26C>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs776778597 | 10 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000020.11:g.35954257C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954257C>T Locations: - p.Ala10Thr (Ensembl:ENST00000615116) - c.28G>A (Ensembl:ENST00000615116) - p.Ala10Thr (Ensembl:ENST00000305978) - c.28G>A (Ensembl:ENST00000305978) - p.Ala10Thr (Ensembl:ENST00000373991) - c.28G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV60004969 rs768614568 | 11 | T>I | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000020.11:g.35954253G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954253G>A Locations: - p.Thr11Ile (Ensembl:ENST00000373991) - c.32C>T (Ensembl:ENST00000373991) - p.Thr11Ile (Ensembl:ENST00000615116) - c.32C>T (Ensembl:ENST00000615116) - p.Thr11Ile (Ensembl:ENST00000305978) - c.32C>T (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs768614568 | 11 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000020.11:g.35954253G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954253G>C Locations: - p.Thr11Ser (Ensembl:ENST00000615116) - c.32C>G (Ensembl:ENST00000615116) - p.Thr11Ser (Ensembl:ENST00000373991) - c.32C>G (Ensembl:ENST00000373991) - p.Thr11Ser (Ensembl:ENST00000305978) - c.32C>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2147152849 | 13 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000020.11:g.35954248T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954248T>C Locations: - p.Ser13Gly (Ensembl:ENST00000615116) - c.37A>G (Ensembl:ENST00000615116) - p.Ser13Gly (Ensembl:ENST00000305978) - c.37A>G (Ensembl:ENST00000305978) - p.Ser13Gly (Ensembl:ENST00000373991) - c.37A>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV60004653 rs779835917 | 14 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: Yes Accession: NC_000020.11:g.35954244G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954244G>A Locations: - p.Pro14Leu (Ensembl:ENST00000373991) - c.41C>T (Ensembl:ENST00000373991) - p.Pro14Leu (Ensembl:ENST00000615116) - c.41C>T (Ensembl:ENST00000615116) - p.Pro14Leu (Ensembl:ENST00000305978) - c.41C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1470430358 | 14 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.35954245G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954245G>T Locations: - p.Pro14Thr (Ensembl:ENST00000373991) - c.40C>A (Ensembl:ENST00000373991) - p.Pro14Thr (Ensembl:ENST00000305978) - c.40C>A (Ensembl:ENST00000305978) - p.Pro14Thr (Ensembl:ENST00000615116) - c.40C>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs745683454 | 15 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000020.11:g.35954242C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954242C>G Locations: - p.Ala15Pro (Ensembl:ENST00000615116) - c.43G>C (Ensembl:ENST00000615116) - p.Ala15Pro (Ensembl:ENST00000305978) - c.43G>C (Ensembl:ENST00000305978) - p.Ala15Pro (Ensembl:ENST00000373991) - c.43G>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs745683454 | 15 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000020.11:g.35954242C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954242C>A Locations: - p.Ala15Ser (Ensembl:ENST00000373991) - c.43G>T (Ensembl:ENST00000373991) - p.Ala15Ser (Ensembl:ENST00000615116) - c.43G>T (Ensembl:ENST00000615116) - p.Ala15Ser (Ensembl:ENST00000305978) - c.43G>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs904488954 | 15 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000020.11:g.35954241G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954241G>A Locations: - p.Ala15Val (Ensembl:ENST00000373991) - c.44C>T (Ensembl:ENST00000373991) - p.Ala15Val (Ensembl:ENST00000305978) - c.44C>T (Ensembl:ENST00000305978) - p.Ala15Val (Ensembl:ENST00000615116) - c.44C>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs2056217191 | 18 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000020.11:g.35954233G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954233G>A Locations: - p.Pro18Ser (Ensembl:ENST00000373991) - c.52C>T (Ensembl:ENST00000373991) - p.Pro18Ser (Ensembl:ENST00000305978) - c.52C>T (Ensembl:ENST00000305978) - p.Pro18Ser (Ensembl:ENST00000615116) - c.52C>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
COSV60004732 | 20 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.13) Somatic: Yes Accession: NC_000020.11:g.35954225C>A Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954225C>A Locations: - p.E20D (NCI-TCGA:ENST00000305978) - p.Glu20Asp (cosmic curated:ENST00000305978) - c.60G>T (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2056217080 | 20 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000020.11:g.35954227C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954227C>T Locations: - p.Glu20Lys (Ensembl:ENST00000615116) - c.58G>A (Ensembl:ENST00000615116) - p.Glu20Lys (Ensembl:ENST00000305978) - c.58G>A (Ensembl:ENST00000305978) - p.Glu20Lys (Ensembl:ENST00000373991) - c.58G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs753482079 | 21 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000020.11:g.35954224T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954224T>C Locations: - p.Lys21Glu (Ensembl:ENST00000305978) - c.61A>G (Ensembl:ENST00000305978) - p.Lys21Glu (Ensembl:ENST00000615116) - c.61A>G (Ensembl:ENST00000615116) - p.Lys21Glu (Ensembl:ENST00000373991) - c.61A>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs996940742 | 23 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.35954217T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954217T>G Locations: - p.Glu23Ala (Ensembl:ENST00000615116) - c.68A>C (Ensembl:ENST00000615116) - p.Glu23Ala (Ensembl:ENST00000373991) - c.68A>C (Ensembl:ENST00000373991) - p.Glu23Ala (Ensembl:ENST00000305978) - c.68A>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs996940742 | 23 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.35954217T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954217T>A Locations: - p.Glu23Val (Ensembl:ENST00000615116) - c.68A>T (Ensembl:ENST00000615116) - p.Glu23Val (Ensembl:ENST00000305978) - c.68A>T (Ensembl:ENST00000305978) - p.Glu23Val (Ensembl:ENST00000373991) - c.68A>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1443624129 | 24 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000020.11:g.35954214C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954214C>T Locations: - p.Gly24Glu (Ensembl:ENST00000305978) - c.71G>A (Ensembl:ENST00000305978) - p.Gly24Glu (Ensembl:ENST00000615116) - c.71G>A (Ensembl:ENST00000615116) - p.Gly24Glu (Ensembl:ENST00000373991) - c.71G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1276146253 | 25 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000020.11:g.35954211G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954211G>C Locations: - p.Ala25Gly (Ensembl:ENST00000373991) - c.74C>G (Ensembl:ENST00000373991) - p.Ala25Gly (Ensembl:ENST00000305978) - c.74C>G (Ensembl:ENST00000305978) - p.Ala25Gly (Ensembl:ENST00000615116) - c.74C>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1311397111 | 25 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000020.11:g.35954212C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954212C>A Locations: - p.Ala25Ser (Ensembl:ENST00000373991) - c.73G>T (Ensembl:ENST00000373991) - p.Ala25Ser (Ensembl:ENST00000305978) - c.73G>T (Ensembl:ENST00000305978) - p.Ala25Ser (Ensembl:ENST00000615116) - c.73G>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1311397111 | 25 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000020.11:g.35954212C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954212C>T Locations: - p.Ala25Thr (Ensembl:ENST00000615116) - c.73G>A (Ensembl:ENST00000615116) - p.Ala25Thr (Ensembl:ENST00000373991) - c.73G>A (Ensembl:ENST00000373991) - p.Ala25Thr (Ensembl:ENST00000305978) - c.73G>A (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs34116988 | 26 | G>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.35954208C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954208C>G Locations: - p.Gly26Ala (Ensembl:ENST00000305978) - c.77G>C (Ensembl:ENST00000305978) - p.Gly26Ala (Ensembl:ENST00000615116) - c.77G>C (Ensembl:ENST00000615116) - p.Gly26Ala (Ensembl:ENST00000373991) - c.77G>C (Ensembl:ENST00000373991) Source type: large scale study | |||||||
rs34116988 | 26 | G>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000020.11:g.35954208C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954208C>T Locations: - p.Gly26Asp (Ensembl:ENST00000373991) - c.77G>A (Ensembl:ENST00000373991) - p.Gly26Asp (Ensembl:ENST00000305978) - c.77G>A (Ensembl:ENST00000305978) - p.Gly26Asp (Ensembl:ENST00000615116) - c.77G>A (Ensembl:ENST00000615116) Source type: large scale study | |||||||
rs372191374 | 28 | S>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000020.11:g.35954201G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954201G>C Locations: - p.Ser28Arg (Ensembl:ENST00000305978) - c.84C>G (Ensembl:ENST00000305978) - p.Ser28Arg (Ensembl:ENST00000615116) - c.84C>G (Ensembl:ENST00000615116) - p.Ser28Arg (Ensembl:ENST00000373991) - c.84C>G (Ensembl:ENST00000373991) Source type: large scale study | |||||||
rs752144690 | 29 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000020.11:g.35954199G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954199G>A Locations: - p.Ser29Leu (Ensembl:ENST00000305978) - c.86C>T (Ensembl:ENST00000305978) - p.Ser29Leu (Ensembl:ENST00000615116) - c.86C>T (Ensembl:ENST00000615116) - p.Ser29Leu (Ensembl:ENST00000373991) - c.86C>T (Ensembl:ENST00000373991) Source type: large scale study | |||||||
rs2056216153 | 30 | A>G | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.74) Somatic: No Accession: NC_000020.11:g.35954196G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954196G>C Locations: - p.Ala30Gly (Ensembl:ENST00000373991) - c.89C>G (Ensembl:ENST00000373991) - p.Ala30Gly (Ensembl:ENST00000615116) - c.89C>G (Ensembl:ENST00000615116) - p.Ala30Gly (Ensembl:ENST00000305978) - c.89C>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2056216153 | 30 | A>V | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000020.11:g.35954196G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954196G>A Locations: - p.Ala30Val (Ensembl:ENST00000305978) - c.89C>T (Ensembl:ENST00000305978) - p.Ala30Val (Ensembl:ENST00000615116) - c.89C>T (Ensembl:ENST00000615116) - p.Ala30Val (Ensembl:ENST00000373991) - c.89C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs2056216052 | 32 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000020.11:g.35954190T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954190T>C Locations: - p.Glu32Gly (Ensembl:ENST00000373991) - c.95A>G (Ensembl:ENST00000373991) - p.Glu32Gly (Ensembl:ENST00000615116) - c.95A>G (Ensembl:ENST00000615116) - p.Glu32Gly (Ensembl:ENST00000305978) - c.95A>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1487867655 | 32 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000020.11:g.35954191C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954191C>T Locations: - p.Glu32Lys (Ensembl:ENST00000305978) - c.94G>A (Ensembl:ENST00000305978) - p.Glu32Lys (Ensembl:ENST00000373991) - c.94G>A (Ensembl:ENST00000373991) - p.Glu32Lys (Ensembl:ENST00000615116) - c.94G>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs766829688 | 35 | C>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000020.11:g.35954181C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954181C>A Locations: - p.Cys35Phe (Ensembl:ENST00000305978) - c.104G>T (Ensembl:ENST00000305978) - p.Cys35Phe (Ensembl:ENST00000615116) - c.104G>T (Ensembl:ENST00000615116) - p.Cys35Phe (Ensembl:ENST00000373991) - c.104G>T (Ensembl:ENST00000373991) Source type: large scale study | |||||||
rs760369213 | 35 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000020.11:g.35954182A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954182A>G Locations: - p.Cys35Arg (Ensembl:ENST00000305978) - c.103T>C (Ensembl:ENST00000305978) - p.Cys35Arg (Ensembl:ENST00000615116) - c.103T>C (Ensembl:ENST00000615116) - p.Cys35Arg (Ensembl:ENST00000373991) - c.103T>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV60004778 rs766829688 | 35 | C>Y | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000020.11:g.35954181C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954181C>T Locations: - p.Cys35Tyr (Ensembl:ENST00000305978) - c.104G>A (Ensembl:ENST00000305978) - p.Cys35Tyr (Ensembl:ENST00000373991) - c.104G>A (Ensembl:ENST00000373991) - p.Cys35Tyr (Ensembl:ENST00000615116) - c.104G>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1296983227 | 36 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000020.11:g.35954178A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954178A>G Locations: - p.Val36Ala (Ensembl:ENST00000373991) - c.107T>C (Ensembl:ENST00000373991) - p.Val36Ala (Ensembl:ENST00000615116) - c.107T>C (Ensembl:ENST00000615116) - p.Val36Ala (Ensembl:ENST00000305978) - c.107T>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1296983227 | 36 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000020.11:g.35954178A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954178A>C Locations: - p.Val36Gly (Ensembl:ENST00000305978) - c.107T>G (Ensembl:ENST00000305978) - p.Val36Gly (Ensembl:ENST00000615116) - c.107T>G (Ensembl:ENST00000615116) - p.Val36Gly (Ensembl:ENST00000373991) - c.107T>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs763509934 | 36 | V>L | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000020.11:g.35954179C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954179C>A Locations: - p.Val36Leu (Ensembl:ENST00000615116) - c.106G>T (Ensembl:ENST00000615116) - p.Val36Leu (Ensembl:ENST00000373991) - c.106G>T (Ensembl:ENST00000373991) - p.Val36Leu (Ensembl:ENST00000305978) - c.106G>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs763509934 | 36 | V>M | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.35954179C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954179C>T Locations: - p.Val36Met (Ensembl:ENST00000373991) - c.106G>A (Ensembl:ENST00000373991) - p.Val36Met (Ensembl:ENST00000305978) - c.106G>A (Ensembl:ENST00000305978) - p.Val36Met (Ensembl:ENST00000615116) - c.106G>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs2056215711 | 37 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000020.11:g.35954175C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954175C>T Locations: - p.Gly37Asp (Ensembl:ENST00000305978) - c.110G>A (Ensembl:ENST00000305978) - p.Gly37Asp (Ensembl:ENST00000373991) - c.110G>A (Ensembl:ENST00000373991) - p.Gly37Asp (Ensembl:ENST00000615116) - c.110G>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs765631441 | 38 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.35954172G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954172G>A Locations: - p.Ser38Phe (Ensembl:ENST00000305978) - c.113C>T (Ensembl:ENST00000305978) - p.Ser38Phe (Ensembl:ENST00000615116) - c.113C>T (Ensembl:ENST00000615116) - p.Ser38Phe (Ensembl:ENST00000373991) - c.113C>T (Ensembl:ENST00000373991) Source type: large scale study | |||||||
rs750834784 | 38 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000020.11:g.35954173A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954173A>G Locations: - p.Ser38Pro (Ensembl:ENST00000373991) - c.112T>C (Ensembl:ENST00000373991) - p.Ser38Pro (Ensembl:ENST00000615116) - c.112T>C (Ensembl:ENST00000615116) - p.Ser38Pro (Ensembl:ENST00000305978) - c.112T>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
COSV60004826 | 38 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35954172G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35954172G>T Locations: - p.Ser38Tyr (cosmic curated:ENST00000615116) - c.113C>A (cosmic curated:ENST00000615116) - p.Ser38Tyr (cosmic curated:ENST00000305978) - c.113C>A (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
COSV100018902 | 39 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000020.11:g.35954169G>A Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954169G>A Locations: - p.S39L (NCI-TCGA:ENST00000305978) - p.Ser39Leu (cosmic curated:ENST00000305978) - c.116C>T (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1411743667 | 39 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000020.11:g.35954170A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954170A>G Locations: - p.Ser39Pro (Ensembl:ENST00000305978) - c.115T>C (Ensembl:ENST00000305978) - p.Ser39Pro (Ensembl:ENST00000615116) - c.115T>C (Ensembl:ENST00000615116) - p.Ser39Pro (Ensembl:ENST00000373991) - c.115T>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1170802180 | 44 | S>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.35954154G>C Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954154G>C Locations: - p.Ser44Ter (Ensembl:ENST00000373991) - c.131C>G (Ensembl:ENST00000373991) - p.Ser44Ter (Ensembl:ENST00000305978) - c.131C>G (Ensembl:ENST00000305978) - p.Ser44Ter (Ensembl:ENST00000615116) - c.131C>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2056215145 | 45 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000020.11:g.35954151G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954151G>A Locations: - p.P45L (NCI-TCGA:ENST00000373991) - p.P45L (NCI-TCGA:ENST00000615116) - p.P45L (NCI-TCGA:ENST00000305978) - p.Pro45Leu (Ensembl:ENST00000373991) - c.134C>T (Ensembl:ENST00000373991) - p.Pro45Leu (Ensembl:ENST00000615116) - c.134C>T (Ensembl:ENST00000615116) - p.Pro45Leu (Ensembl:ENST00000305978) - c.134C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1390161588 | 46 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.35954148G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954148G>A Locations: - p.Pro46Leu (Ensembl:ENST00000305978) - c.137C>T (Ensembl:ENST00000305978) - p.Pro46Leu (Ensembl:ENST00000373991) - c.137C>T (Ensembl:ENST00000373991) - p.Pro46Leu (Ensembl:ENST00000615116) - c.137C>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1390161588 | 46 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000020.11:g.35954148G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954148G>C Locations: - p.Pro46Arg (Ensembl:ENST00000305978) - c.137C>G (Ensembl:ENST00000305978) - p.Pro46Arg (Ensembl:ENST00000373991) - c.137C>G (Ensembl:ENST00000373991) - p.Pro46Arg (Ensembl:ENST00000615116) - c.137C>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs762192528 | 47 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000020.11:g.35954146C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954146C>T Locations: - p.Ala47Thr (Ensembl:ENST00000373991) - c.139G>A (Ensembl:ENST00000373991) - p.Ala47Thr (Ensembl:ENST00000615116) - c.139G>A (Ensembl:ENST00000615116) - p.Ala47Thr (Ensembl:ENST00000305978) - c.139G>A (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1473515496 | 47 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000020.11:g.35954145G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954145G>A Locations: - p.Ala47Val (Ensembl:ENST00000615116) - c.140C>T (Ensembl:ENST00000615116) - p.Ala47Val (Ensembl:ENST00000373991) - c.140C>T (Ensembl:ENST00000373991) - p.Ala47Val (Ensembl:ENST00000305978) - c.140C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2056214765 | 48 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000020.11:g.35954143G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954143G>C Locations: - p.Pro48Ala (Ensembl:ENST00000305978) - c.142C>G (Ensembl:ENST00000305978) - p.Pro48Ala (Ensembl:ENST00000373991) - c.142C>G (Ensembl:ENST00000373991) - p.Pro48Ala (Ensembl:ENST00000615116) - c.142C>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
COSV60005014 | 48 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35954142G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35954142G>T Locations: - p.Pro48His (cosmic curated:ENST00000615116) - c.143C>A (cosmic curated:ENST00000615116) - p.Pro48His (cosmic curated:ENST00000305978) - c.143C>A (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
COSV60004846 | 48 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35954142G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35954142G>A Locations: - p.Pro48Leu (cosmic curated:ENST00000615116) - c.143C>T (cosmic curated:ENST00000615116) - p.Pro48Leu (cosmic curated:ENST00000305978) - c.143C>T (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2056214765 | 48 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000020.11:g.35954143G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954143G>A Locations: - p.Pro48Ser (Ensembl:ENST00000305978) - c.142C>T (Ensembl:ENST00000305978) - p.Pro48Ser (Ensembl:ENST00000373991) - c.142C>T (Ensembl:ENST00000373991) - p.Pro48Ser (Ensembl:ENST00000615116) - c.142C>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs572168720 | 49 | E>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000020.11:g.35954138C>A, NC_000020.11:g.35954138C>G Codon: GAG/GAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954138C>A, NC_000020.11:g.35954138C>G Locations: - p.Glu49Asp (Ensembl:ENST00000305978) - c.147G>T (Ensembl:ENST00000305978) - p.Glu49Asp (Ensembl:ENST00000373991) - c.147G>T (Ensembl:ENST00000373991) - p.Glu49Asp (Ensembl:ENST00000615116) - c.147G>T (Ensembl:ENST00000615116) - c.147G>C (Ensembl:ENST00000615116) - c.147G>C (Ensembl:ENST00000305978) - c.147G>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV60004944 | 49 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35954139T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35954139T>C Locations: - p.Glu49Gly (cosmic curated:ENST00000305978) - c.146A>G (cosmic curated:ENST00000305978) - p.Glu49Gly (cosmic curated:ENST00000615116) - c.146A>G (cosmic curated:ENST00000615116) Source type: large scale study Cross-references: | |||||||
COSV100018980 | 50 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35954136G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35954136G>A Locations: - p.Pro50Leu (cosmic curated:ENST00000615116) - c.149C>T (cosmic curated:ENST00000615116) - p.Pro50Leu (cosmic curated:ENST00000305978) - c.149C>T (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1202694385 | 50 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35954136G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954136G>C Locations: - p.Pro50Arg (Ensembl:ENST00000373991) - c.149C>G (Ensembl:ENST00000373991) - p.Pro50Arg (Ensembl:ENST00000305978) - c.149C>G (Ensembl:ENST00000305978) - p.Pro50Arg (Ensembl:ENST00000615116) - c.149C>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1276522003 | 50 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.35954137G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954137G>T Locations: - p.Pro50Thr (Ensembl:ENST00000305978) - c.148C>A (Ensembl:ENST00000305978) - p.Pro50Thr (Ensembl:ENST00000615116) - c.148C>A (Ensembl:ENST00000615116) - p.Pro50Thr (Ensembl:ENST00000373991) - c.148C>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs938873432 | 52 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000020.11:g.35954131T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954131T>C Locations: - p.Ser52Gly (Ensembl:ENST00000373991) - c.154A>G (Ensembl:ENST00000373991) - p.Ser52Gly (Ensembl:ENST00000615116) - c.154A>G (Ensembl:ENST00000615116) - p.Ser52Gly (Ensembl:ENST00000305978) - c.154A>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1293082336 | 53 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35954127G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954127G>T Locations: - p.Pro53His (Ensembl:ENST00000615116) - c.158C>A (Ensembl:ENST00000615116) - p.Pro53His (Ensembl:ENST00000373991) - c.158C>A (Ensembl:ENST00000373991) - p.Pro53His (Ensembl:ENST00000305978) - c.158C>A (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs775588679 | 54 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000020.11:g.35954125T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954125T>C Locations: - p.Asn54Asp (Ensembl:ENST00000615116) - c.160A>G (Ensembl:ENST00000615116) - p.Asn54Asp (Ensembl:ENST00000373991) - c.160A>G (Ensembl:ENST00000373991) - p.Asn54Asp (Ensembl:ENST00000305978) - c.160A>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs775588679 | 54 | N>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.195) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.35954125T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954125T>G Locations: - p.Asn54His (Ensembl:ENST00000615116) - c.160A>C (Ensembl:ENST00000615116) - p.Asn54His (Ensembl:ENST00000305978) - c.160A>C (Ensembl:ENST00000305978) - p.Asn54His (Ensembl:ENST00000373991) - c.160A>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs553959427 | 54 | N>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000020.11:g.35954123G>C, NC_000020.11:g.35954123G>T Codon: AAC/AAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954123G>C, NC_000020.11:g.35954123G>T Locations: - p.Asn54Lys (Ensembl:ENST00000373991) - c.162C>G (Ensembl:ENST00000373991) - p.Asn54Lys (Ensembl:ENST00000615116) - c.162C>G (Ensembl:ENST00000615116) - p.Asn54Lys (Ensembl:ENST00000305978) - c.162C>G (Ensembl:ENST00000305978) - c.162C>A (Ensembl:ENST00000305978) - c.162C>A (Ensembl:ENST00000373991) - c.162C>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
COSV60004923 rs1229931617 | 55 | A>T | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000020.11:g.35954122C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954122C>T Locations: - p.Ala55Thr (Ensembl:ENST00000615116) - c.163G>A (Ensembl:ENST00000615116) - p.Ala55Thr (Ensembl:ENST00000305978) - c.163G>A (Ensembl:ENST00000305978) - p.Ala55Thr (Ensembl:ENST00000373991) - c.163G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs2056214137 | 56 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35954119C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954119C>G Locations: - p.Ala56Pro (Ensembl:ENST00000373991) - c.166G>C (Ensembl:ENST00000373991) - p.Ala56Pro (Ensembl:ENST00000615116) - c.166G>C (Ensembl:ENST00000615116) - p.Ala56Pro (Ensembl:ENST00000305978) - c.166G>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
COSV100018834 | 56 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35954119C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35954119C>A Locations: - p.Ala56Ser (cosmic curated:ENST00000305978) - c.166G>T (cosmic curated:ENST00000305978) - p.Ala56Ser (cosmic curated:ENST00000615116) - c.166G>T (cosmic curated:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs745738496 | 58 | P>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000020.11:g.35954113G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954113G>C Locations: - p.Pro58Ala (Ensembl:ENST00000373991) - c.172C>G (Ensembl:ENST00000373991) - p.Pro58Ala (Ensembl:ENST00000615116) - c.172C>G (Ensembl:ENST00000615116) - p.Pro58Ala (Ensembl:ENST00000305978) - c.172C>G (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs1447578540 | 58 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35954112G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954112G>A Locations: - p.Pro58Leu (Ensembl:ENST00000373991) - c.173C>T (Ensembl:ENST00000373991) - p.Pro58Leu (Ensembl:ENST00000305978) - c.173C>T (Ensembl:ENST00000305978) - p.Pro58Leu (Ensembl:ENST00000615116) - c.173C>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1447578540 | 58 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35954112G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954112G>C Locations: - p.Pro58Arg (Ensembl:ENST00000305978) - c.173C>G (Ensembl:ENST00000305978) - p.Pro58Arg (Ensembl:ENST00000615116) - c.173C>G (Ensembl:ENST00000615116) - p.Pro58Arg (Ensembl:ENST00000373991) - c.173C>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1351277410 | 59 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35954108T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954108T>A Locations: - p.Glu59Asp (Ensembl:ENST00000305978) - c.177A>T (Ensembl:ENST00000305978) - p.Glu59Asp (Ensembl:ENST00000615116) - c.177A>T (Ensembl:ENST00000615116) - p.Glu59Asp (Ensembl:ENST00000373991) - c.177A>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs2056213784 | 59 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35954109T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954109T>C Locations: - p.Glu59Gly (Ensembl:ENST00000615116) - c.176A>G (Ensembl:ENST00000615116) - p.Glu59Gly (Ensembl:ENST00000305978) - c.176A>G (Ensembl:ENST00000305978) - p.Glu59Gly (Ensembl:ENST00000373991) - c.176A>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV105191368 | 59 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35954110C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35954110C>T Locations: - p.Glu59Lys (cosmic curated:ENST00000305978) - c.175G>A (cosmic curated:ENST00000305978) - p.Glu59Lys (cosmic curated:ENST00000615116) - c.175G>A (cosmic curated:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1310067751 | 60 | A>D | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35954106G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954106G>T Locations: - p.Ala60Asp (Ensembl:ENST00000373991) - c.179C>A (Ensembl:ENST00000373991) - p.Ala60Asp (Ensembl:ENST00000305978) - c.179C>A (Ensembl:ENST00000305978) - p.Ala60Asp (Ensembl:ENST00000615116) - c.179C>A (Ensembl:ENST00000615116) Source type: large scale study | |||||||
rs2056213728 | 60 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000020.11:g.35954107C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954107C>A Locations: - p.Ala60Ser (Ensembl:ENST00000305978) - c.178G>T (Ensembl:ENST00000305978) - p.Ala60Ser (Ensembl:ENST00000373991) - c.178G>T (Ensembl:ENST00000373991) - p.Ala60Ser (Ensembl:ENST00000615116) - c.178G>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1310067751 | 60 | A>V | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000020.11:g.35954106G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954106G>A Locations: - p.Ala60Val (Ensembl:ENST00000305978) - c.179C>T (Ensembl:ENST00000305978) - p.Ala60Val (Ensembl:ENST00000373991) - c.179C>T (Ensembl:ENST00000373991) - p.Ala60Val (Ensembl:ENST00000615116) - c.179C>T (Ensembl:ENST00000615116) Source type: large scale study | |||||||
rs2056213572 | 61 | I>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000020.11:g.35954103A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954103A>C Locations: - p.Ile61Ser (Ensembl:ENST00000305978) - c.182T>G (Ensembl:ENST00000305978) - p.Ile61Ser (Ensembl:ENST00000615116) - c.182T>G (Ensembl:ENST00000615116) - p.Ile61Ser (Ensembl:ENST00000373991) - c.182T>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
TCGA novel | 62 | P>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000020.11:g.35954100del Consequence type: frameshift Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954100del Locations: - c.185del (NCI-TCGA:ENST00000305978) - p.P62Lfs*20 (NCI-TCGA:ENST00000305978) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2056213383 | 63 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000020.11:g.35954098T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954098T>C Locations: - p.Thr63Ala (Ensembl:ENST00000305978) - c.187A>G (Ensembl:ENST00000305978) - p.Thr63Ala (Ensembl:ENST00000615116) - c.187A>G (Ensembl:ENST00000615116) - p.Thr63Ala (Ensembl:ENST00000373991) - c.187A>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs2056213383 | 63 | T>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000020.11:g.35954098T>G Codon: ACG/CCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954098T>G Locations: - p.Thr63Pro (Ensembl:ENST00000305978) - c.187A>C (Ensembl:ENST00000305978) - p.Thr63Pro (Ensembl:ENST00000615116) - c.187A>C (Ensembl:ENST00000615116) - p.Thr63Pro (Ensembl:ENST00000373991) - c.187A>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs770694991 | 64 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000020.11:g.35954095G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954095G>C Locations: - p.Pro64Ala (Ensembl:ENST00000373991) - c.190C>G (Ensembl:ENST00000373991) - p.Pro64Ala (Ensembl:ENST00000305978) - c.190C>G (Ensembl:ENST00000305978) - p.Pro64Ala (Ensembl:ENST00000615116) - c.190C>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs770694991 | 64 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.35954095G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954095G>A Locations: - p.Pro64Ser (Ensembl:ENST00000615116) - c.190C>T (Ensembl:ENST00000615116) - p.Pro64Ser (Ensembl:ENST00000373991) - c.190C>T (Ensembl:ENST00000373991) - p.Pro64Ser (Ensembl:ENST00000305978) - c.190C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs777256681 | 66 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35954088G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954088G>T Locations: - p.Ala66Asp (Ensembl:ENST00000373991) - c.197C>A (Ensembl:ENST00000373991) - p.Ala66Asp (Ensembl:ENST00000305978) - c.197C>A (Ensembl:ENST00000305978) - p.Ala66Asp (Ensembl:ENST00000615116) - c.197C>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs368047487 | 66 | A>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.35954089C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954089C>T Locations: - p.Ala66Thr (Ensembl:ENST00000373991) - c.196G>A (Ensembl:ENST00000373991) - p.Ala66Thr (Ensembl:ENST00000615116) - c.196G>A (Ensembl:ENST00000615116) - p.Ala66Thr (Ensembl:ENST00000305978) - c.196G>A (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs777256681 | 66 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000020.11:g.35954088G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954088G>A Locations: - p.Ala66Val (Ensembl:ENST00000305978) - c.197C>T (Ensembl:ENST00000305978) - p.Ala66Val (Ensembl:ENST00000615116) - c.197C>T (Ensembl:ENST00000615116) - p.Ala66Val (Ensembl:ENST00000373991) - c.197C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1162060527 | 67 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000020.11:g.35954085G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954085G>A Locations: - p.Ala67Val (Ensembl:ENST00000615116) - c.200C>T (Ensembl:ENST00000615116) - p.Ala67Val (Ensembl:ENST00000373991) - c.200C>T (Ensembl:ENST00000373991) - p.Ala67Val (Ensembl:ENST00000305978) - c.200C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2056212927 | 68 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000020.11:g.35954083C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954083C>G Locations: - p.Ala68Pro (Ensembl:ENST00000305978) - c.202G>C (Ensembl:ENST00000305978) - p.Ala68Pro (Ensembl:ENST00000373991) - c.202G>C (Ensembl:ENST00000373991) - p.Ala68Pro (Ensembl:ENST00000615116) - c.202G>C (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1472724433 | 68 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000020.11:g.35954082G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954082G>A Locations: - p.Ala68Val (Ensembl:ENST00000305978) - c.203C>T (Ensembl:ENST00000305978) - p.Ala68Val (Ensembl:ENST00000615116) - c.203C>T (Ensembl:ENST00000615116) - p.Ala68Val (Ensembl:ENST00000373991) - c.203C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1377205044 | 70 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.35954076G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954076G>C Locations: - p.Ala70Gly (Ensembl:ENST00000373991) - c.209C>G (Ensembl:ENST00000373991) - p.Ala70Gly (Ensembl:ENST00000305978) - c.209C>G (Ensembl:ENST00000305978) - p.Ala70Gly (Ensembl:ENST00000615116) - c.209C>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1253602009 | 70 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35954077C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954077C>T Locations: - p.Ala70Thr (Ensembl:ENST00000615116) - c.208G>A (Ensembl:ENST00000615116) - p.Ala70Thr (Ensembl:ENST00000373991) - c.208G>A (Ensembl:ENST00000373991) - p.Ala70Thr (Ensembl:ENST00000305978) - c.208G>A (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
COSV60004742 | 70 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000020.11:g.35954076G>A Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954076G>A Locations: - p.A70V (NCI-TCGA:ENST00000305978) - p.Ala70Val (cosmic curated:ENST00000305978) - c.209C>T (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs377105045 | 72 | L>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000020.11:g.35954071G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954071G>C Locations: - p.Leu72Val (Ensembl:ENST00000305978) - c.214C>G (Ensembl:ENST00000305978) - p.Leu72Val (Ensembl:ENST00000615116) - c.214C>G (Ensembl:ENST00000615116) - p.Leu72Val (Ensembl:ENST00000373991) - c.214C>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV60004739 | 73 | E>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35954067T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35954067T>G Locations: - p.Glu73Ala (cosmic curated:ENST00000615116) - c.218A>C (cosmic curated:ENST00000615116) - p.Glu73Ala (cosmic curated:ENST00000305978) - c.218A>C (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1482630131 | 74 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35954064A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954064A>T Locations: - p.Leu74Gln (Ensembl:ENST00000615116) - c.221T>A (Ensembl:ENST00000615116) - p.Leu74Gln (Ensembl:ENST00000373991) - c.221T>A (Ensembl:ENST00000373991) - p.Leu74Gln (Ensembl:ENST00000305978) - c.221T>A (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs974253120 | 75 | P>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.35954061G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954061G>A Locations: - p.Pro75Leu (Ensembl:ENST00000305978) - c.224C>T (Ensembl:ENST00000305978) - p.Pro75Leu (Ensembl:ENST00000615116) - c.224C>T (Ensembl:ENST00000615116) - p.Pro75Leu (Ensembl:ENST00000373991) - c.224C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs974253120 | 75 | P>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35954061G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954061G>C Locations: - p.Pro75Arg (Ensembl:ENST00000615116) - c.224C>G (Ensembl:ENST00000615116) - p.Pro75Arg (Ensembl:ENST00000373991) - c.224C>G (Ensembl:ENST00000373991) - p.Pro75Arg (Ensembl:ENST00000305978) - c.224C>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs758983068 | 75 | P>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35954062G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954062G>A Locations: - p.Pro75Ser (Ensembl:ENST00000615116) - c.223C>T (Ensembl:ENST00000615116) - p.Pro75Ser (Ensembl:ENST00000373991) - c.223C>T (Ensembl:ENST00000373991) - p.Pro75Ser (Ensembl:ENST00000305978) - c.223C>T (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs2056212002 | 76 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000020.11:g.35954059G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954059G>A Locations: - p.Leu76Phe (Ensembl:ENST00000373991) - c.226C>T (Ensembl:ENST00000373991) - p.Leu76Phe (Ensembl:ENST00000615116) - c.226C>T (Ensembl:ENST00000615116) - p.Leu76Phe (Ensembl:ENST00000305978) - c.226C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
COSV107375010 rs908769197 | 77 | G>R | cosmic curated 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000020.11:g.35954056C>T, NC_000020.11:g.35954056C>G Codon: GGG/AGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954056C>T, NC_000020.11:g.35954056C>G Locations: - p.Gly77Arg (Ensembl:ENST00000615116) - c.229G>A (Ensembl:ENST00000615116) - p.Gly77Arg (Ensembl:ENST00000373991) - c.229G>A (Ensembl:ENST00000373991) - p.Gly77Arg (Ensembl:ENST00000305978) - c.229G>A (Ensembl:ENST00000305978) - c.229G>C (Ensembl:ENST00000305978) - c.229G>C (Ensembl:ENST00000615116) - c.229G>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1329923535 | 78 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35954053G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954053G>A Locations: - p.Pro78Ser (Ensembl:ENST00000615116) - c.232C>T (Ensembl:ENST00000615116) - p.Pro78Ser (Ensembl:ENST00000305978) - c.232C>T (Ensembl:ENST00000305978) - p.Pro78Ser (Ensembl:ENST00000373991) - c.232C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1329923535 | 78 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35954053G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954053G>T Locations: - p.Pro78Thr (Ensembl:ENST00000615116) - c.232C>A (Ensembl:ENST00000615116) - p.Pro78Thr (Ensembl:ENST00000305978) - c.232C>A (Ensembl:ENST00000305978) - p.Pro78Thr (Ensembl:ENST00000373991) - c.232C>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1408204490 | 79 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000020.11:g.35954050C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954050C>T Locations: - p.Ala79Thr (Ensembl:ENST00000615116) - c.235G>A (Ensembl:ENST00000615116) - p.Ala79Thr (Ensembl:ENST00000305978) - c.235G>A (Ensembl:ENST00000305978) - p.Ala79Thr (Ensembl:ENST00000373991) - c.235G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs760892216 | 80 | P>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000020.11:g.35954046G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954046G>A Locations: - p.Pro80Leu (Ensembl:ENST00000373991) - c.239C>T (Ensembl:ENST00000373991) - p.Pro80Leu (Ensembl:ENST00000615116) - c.239C>T (Ensembl:ENST00000615116) - p.Pro80Leu (Ensembl:ENST00000305978) - c.239C>T (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs764243178 | 80 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000020.11:g.35954047G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954047G>A Locations: - p.Pro80Ser (Ensembl:ENST00000373991) - c.238C>T (Ensembl:ENST00000373991) - p.Pro80Ser (Ensembl:ENST00000615116) - c.238C>T (Ensembl:ENST00000615116) - p.Pro80Ser (Ensembl:ENST00000305978) - c.238C>T (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs1600994169 | 81 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35954043A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954043A>C Locations: - p.Val81Gly (Ensembl:ENST00000373991) - c.242T>G (Ensembl:ENST00000373991) - p.Val81Gly (Ensembl:ENST00000305978) - c.242T>G (Ensembl:ENST00000305978) - p.Val81Gly (Ensembl:ENST00000615116) - c.242T>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs955367115 | 81 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.35954044C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954044C>G Locations: - p.Val81Leu (Ensembl:ENST00000615116) - c.241G>C (Ensembl:ENST00000615116) - p.Val81Leu (Ensembl:ENST00000373991) - c.241G>C (Ensembl:ENST00000373991) - p.Val81Leu (Ensembl:ENST00000305978) - c.241G>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs775436139 | 82 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000020.11:g.35954040C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954040C>T Locations: - p.Ser82Asn (Ensembl:ENST00000373991) - c.245G>A (Ensembl:ENST00000373991) - p.Ser82Asn (Ensembl:ENST00000305978) - c.245G>A (Ensembl:ENST00000305978) - p.Ser82Asn (Ensembl:ENST00000615116) - c.245G>A (Ensembl:ENST00000615116) Source type: large scale study | |||||||
rs775436139 | 82 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000020.11:g.35954040C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954040C>G Locations: - p.Ser82Thr (Ensembl:ENST00000615116) - c.245G>C (Ensembl:ENST00000615116) - p.Ser82Thr (Ensembl:ENST00000305978) - c.245G>C (Ensembl:ENST00000305978) - p.Ser82Thr (Ensembl:ENST00000373991) - c.245G>C (Ensembl:ENST00000373991) Source type: large scale study | |||||||
rs1323465485 | 83 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000020.11:g.35954038C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954038C>T Locations: - p.Val83Ile (Ensembl:ENST00000305978) - c.247G>A (Ensembl:ENST00000305978) - p.Val83Ile (Ensembl:ENST00000615116) - c.247G>A (Ensembl:ENST00000615116) - p.Val83Ile (Ensembl:ENST00000373991) - c.247G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs953781551 | 84 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000020.11:g.35954035C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954035C>G Locations: - p.Ala84Pro (Ensembl:ENST00000373991) - c.250G>C (Ensembl:ENST00000373991) - p.Ala84Pro (Ensembl:ENST00000305978) - c.250G>C (Ensembl:ENST00000305978) - p.Ala84Pro (Ensembl:ENST00000615116) - c.250G>C (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs953781551 | 84 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000020.11:g.35954035C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954035C>T Locations: - p.Ala84Thr (Ensembl:ENST00000373991) - c.250G>A (Ensembl:ENST00000373991) - p.Ala84Thr (Ensembl:ENST00000305978) - c.250G>A (Ensembl:ENST00000305978) - p.Ala84Thr (Ensembl:ENST00000615116) - c.250G>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs2056210741 | 84 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000020.11:g.35954034G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954034G>A Locations: - p.Ala84Val (Ensembl:ENST00000305978) - c.251C>T (Ensembl:ENST00000305978) - p.Ala84Val (Ensembl:ENST00000615116) - c.251C>T (Ensembl:ENST00000615116) - p.Ala84Val (Ensembl:ENST00000373991) - c.251C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs759523605 | 86 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.35954029G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954029G>A Locations: - p.Gln86Ter (Ensembl:ENST00000373991) - c.256C>T (Ensembl:ENST00000373991) - p.Gln86Ter (Ensembl:ENST00000615116) - c.256C>T (Ensembl:ENST00000615116) - p.Gln86Ter (Ensembl:ENST00000305978) - c.256C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2056210546 | 86 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000020.11:g.35954028T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954028T>C Locations: - p.Gln86Arg (Ensembl:ENST00000373991) - c.257A>G (Ensembl:ENST00000373991) - p.Gln86Arg (Ensembl:ENST00000615116) - c.257A>G (Ensembl:ENST00000615116) - p.Gln86Arg (Ensembl:ENST00000305978) - c.257A>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2056210468 | 87 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.35954025G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954025G>C Locations: - p.Ala87Gly (Ensembl:ENST00000373991) - c.260C>G (Ensembl:ENST00000373991) - p.Ala87Gly (Ensembl:ENST00000615116) - c.260C>G (Ensembl:ENST00000615116) - p.Ala87Gly (Ensembl:ENST00000305978) - c.260C>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2056210468 | 87 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.35954025G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954025G>A Locations: - p.Ala87Val (Ensembl:ENST00000305978) - c.260C>T (Ensembl:ENST00000305978) - p.Ala87Val (Ensembl:ENST00000615116) - c.260C>T (Ensembl:ENST00000615116) - p.Ala87Val (Ensembl:ENST00000373991) - c.260C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1425613561 | 91 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.35954014C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954014C>G Locations: - p.Ala91Pro (Ensembl:ENST00000373991) - c.271G>C (Ensembl:ENST00000373991) - p.Ala91Pro (Ensembl:ENST00000615116) - c.271G>C (Ensembl:ENST00000615116) - p.Ala91Pro (Ensembl:ENST00000305978) - c.271G>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs976608766 | 91 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000020.11:g.35954013G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954013G>A Locations: - p.Ala91Val (Ensembl:ENST00000305978) - c.272C>T (Ensembl:ENST00000305978) - p.Ala91Val (Ensembl:ENST00000615116) - c.272C>T (Ensembl:ENST00000615116) - p.Ala91Val (Ensembl:ENST00000373991) - c.272C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1246119341 | 93 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.837) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000020.11:g.35954007G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954007G>A Locations: - p.Ser93Phe (Ensembl:ENST00000373991) - c.278C>T (Ensembl:ENST00000373991) - p.Ser93Phe (Ensembl:ENST00000615116) - c.278C>T (Ensembl:ENST00000615116) - p.Ser93Phe (Ensembl:ENST00000305978) - c.278C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1216367135 | 94 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000020.11:g.35954005T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954005T>C Locations: - p.Thr94Ala (Ensembl:ENST00000305978) - c.280A>G (Ensembl:ENST00000305978) - p.Thr94Ala (Ensembl:ENST00000373991) - c.280A>G (Ensembl:ENST00000373991) - p.Thr94Ala (Ensembl:ENST00000615116) - c.280A>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs6060714 | 94 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.35954004G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954004G>A Locations: - p.Thr94Ile (Ensembl:ENST00000305978) - c.281C>T (Ensembl:ENST00000305978) - p.Thr94Ile (Ensembl:ENST00000615116) - c.281C>T (Ensembl:ENST00000615116) - p.Thr94Ile (Ensembl:ENST00000373991) - c.281C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs868688398 | 95 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35954001G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35954001G>A Locations: - p.Pro95Leu (Ensembl:ENST00000373991) - c.284C>T (Ensembl:ENST00000373991) - p.Pro95Leu (Ensembl:ENST00000305978) - c.284C>T (Ensembl:ENST00000305978) - p.Pro95Leu (Ensembl:ENST00000615116) - c.284C>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs200514568 | 96 | G>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000020.11:g.35953998C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953998C>G Locations: - p.Gly96Ala (Ensembl:ENST00000615116) - c.287G>C (Ensembl:ENST00000615116) - p.Gly96Ala (Ensembl:ENST00000373991) - c.287G>C (Ensembl:ENST00000373991) - p.Gly96Ala (Ensembl:ENST00000305978) - c.287G>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs200514568 | 96 | G>D | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000020.11:g.35953998C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953998C>T Locations: - p.Gly96Asp (Ensembl:ENST00000615116) - c.287G>A (Ensembl:ENST00000615116) - p.Gly96Asp (Ensembl:ENST00000305978) - c.287G>A (Ensembl:ENST00000305978) - p.Gly96Asp (Ensembl:ENST00000373991) - c.287G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs2056209783 | 96 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000020.11:g.35953999C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953999C>T Locations: - p.Gly96Ser (Ensembl:ENST00000615116) - c.286G>A (Ensembl:ENST00000615116) - p.Gly96Ser (Ensembl:ENST00000305978) - c.286G>A (Ensembl:ENST00000305978) - p.Gly96Ser (Ensembl:ENST00000373991) - c.286G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1302432315 | 97 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000020.11:g.35953995G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953995G>A Locations: - p.Pro97Leu (Ensembl:ENST00000305978) - c.290C>T (Ensembl:ENST00000305978) - p.Pro97Leu (Ensembl:ENST00000615116) - c.290C>T (Ensembl:ENST00000615116) - p.Pro97Leu (Ensembl:ENST00000373991) - c.290C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV60005019 rs1221356057 | 98 | A>T | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000020.11:g.35953993C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953993C>T Locations: - p.Ala98Thr (Ensembl:ENST00000615116) - c.292G>A (Ensembl:ENST00000615116) - p.Ala98Thr (Ensembl:ENST00000373991) - c.292G>A (Ensembl:ENST00000373991) - p.Ala98Thr (Ensembl:ENST00000305978) - c.292G>A (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1365924171 | 98 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000020.11:g.35953992G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953992G>A Locations: - p.Ala98Val (Ensembl:ENST00000373991) - c.293C>T (Ensembl:ENST00000373991) - p.Ala98Val (Ensembl:ENST00000305978) - c.293C>T (Ensembl:ENST00000305978) - p.Ala98Val (Ensembl:ENST00000615116) - c.293C>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs2056209322 | 99 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000020.11:g.35953990C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953990C>T Locations: - p.Gly99Ser (Ensembl:ENST00000305978) - c.295G>A (Ensembl:ENST00000305978) - p.Gly99Ser (Ensembl:ENST00000373991) - c.295G>A (Ensembl:ENST00000373991) - p.Gly99Ser (Ensembl:ENST00000615116) - c.295G>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1436437652 | 100 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000020.11:g.35953986G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953986G>C Locations: - p.S100C (NCI-TCGA:ENST00000373991) - p.S100C (NCI-TCGA:ENST00000615116) - p.S100C (NCI-TCGA:ENST00000305978) - p.Ser100Cys (Ensembl:ENST00000615116) - c.299C>G (Ensembl:ENST00000615116) - p.Ser100Cys (Ensembl:ENST00000305978) - c.299C>G (Ensembl:ENST00000305978) - p.Ser100Cys (Ensembl:ENST00000373991) - c.299C>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1436437652 | 100 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953986G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953986G>A Locations: - p.Ser100Phe (Ensembl:ENST00000373991) - c.299C>T (Ensembl:ENST00000373991) - p.Ser100Phe (Ensembl:ENST00000615116) - c.299C>T (Ensembl:ENST00000615116) - p.Ser100Phe (Ensembl:ENST00000305978) - c.299C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1293500437 | 100 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35953987A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953987A>G Locations: - p.Ser100Pro (Ensembl:ENST00000373991) - c.298T>C (Ensembl:ENST00000373991) - p.Ser100Pro (Ensembl:ENST00000615116) - c.298T>C (Ensembl:ENST00000615116) - p.Ser100Pro (Ensembl:ENST00000305978) - c.298T>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1184291076 | 104 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35953974G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953974G>A Locations: - p.P104L (NCI-TCGA:ENST00000373991) - p.P104L (NCI-TCGA:ENST00000615116) - p.P104L (NCI-TCGA:ENST00000305978) - p.Pro104Leu (Ensembl:ENST00000615116) - c.311C>T (Ensembl:ENST00000615116) - p.Pro104Leu (Ensembl:ENST00000373991) - c.311C>T (Ensembl:ENST00000373991) - p.Pro104Leu (Ensembl:ENST00000305978) - c.311C>T (Ensembl:ENST00000305978) Source type: large scale study | |||||||
TCGA novel | 104 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35953975G>A Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953975G>A Locations: - c.310C>T (NCI-TCGA:ENST00000305978) - p.P104S (NCI-TCGA:ENST00000305978) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs868810526 | 105 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.35953972C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953972C>A Locations: - p.Glu105Ter (Ensembl:ENST00000615116) - c.313G>T (Ensembl:ENST00000615116) - p.Glu105Ter (Ensembl:ENST00000373991) - c.313G>T (Ensembl:ENST00000373991) - p.Glu105Ter (Ensembl:ENST00000305978) - c.313G>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1600994051 | 106 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000020.11:g.35953969T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953969T>C Locations: - p.Thr106Ala (Ensembl:ENST00000373991) - c.316A>G (Ensembl:ENST00000373991) - p.Thr106Ala (Ensembl:ENST00000305978) - c.316A>G (Ensembl:ENST00000305978) - p.Thr106Ala (Ensembl:ENST00000615116) - c.316A>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
COSV100018950 rs1456388548 | 106 | T>M | Variant of uncertain significance (Ensembl) | cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000020.11:g.35953968G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953968G>A Locations: - p.Thr106Met (Ensembl:ENST00000305978) - c.317C>T (Ensembl:ENST00000305978) - p.Thr106Met (Ensembl:ENST00000615116) - c.317C>T (Ensembl:ENST00000615116) - p.Thr106Met (Ensembl:ENST00000373991) - c.317C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV60004893 rs1177786093 | 109 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35953960G>A Codon: CAG/TAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953960G>A Locations: - p.Q109* (NCI-TCGA:ENST00000373991) - p.Q109* (NCI-TCGA:ENST00000615116) - p.Q109* (NCI-TCGA:ENST00000305978) - p.Gln109Ter (Ensembl:ENST00000615116) - c.325C>T (Ensembl:ENST00000615116) - p.Gln109Ter (Ensembl:ENST00000373991) - c.325C>T (Ensembl:ENST00000373991) - p.Gln109Ter (Ensembl:ENST00000305978) - c.325C>T (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs1431264262 | 110 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35953956C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953956C>T Locations: - p.Arg110His (Ensembl:ENST00000305978) - c.329G>A (Ensembl:ENST00000305978) - p.Arg110His (Ensembl:ENST00000373991) - c.329G>A (Ensembl:ENST00000373991) - p.Arg110His (Ensembl:ENST00000615116) - c.329G>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs2056208813 | 112 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35953950C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953950C>T Locations: - p.Arg112Gln (Ensembl:ENST00000615116) - c.335G>A (Ensembl:ENST00000615116) - p.Arg112Gln (Ensembl:ENST00000305978) - c.335G>A (Ensembl:ENST00000305978) - p.Arg112Gln (Ensembl:ENST00000373991) - c.335G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1189161546 | 114 | F>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953944A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953944A>T Locations: - p.Phe114Tyr (Ensembl:ENST00000373991) - c.341T>A (Ensembl:ENST00000373991) - p.Phe114Tyr (Ensembl:ENST00000615116) - c.341T>A (Ensembl:ENST00000615116) - p.Phe114Tyr (Ensembl:ENST00000305978) - c.341T>A (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs747774788 | 115 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000020.11:g.35953942G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953942G>A Locations: - p.Arg115Cys (Ensembl:ENST00000305978) - c.343C>T (Ensembl:ENST00000305978) - p.Arg115Cys (Ensembl:ENST00000373991) - c.343C>T (Ensembl:ENST00000373991) - p.Arg115Cys (Ensembl:ENST00000615116) - c.343C>T (Ensembl:ENST00000615116) Source type: large scale study | |||||||
rs1256883135 | 116 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953939A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953939A>G Locations: - p.Tyr116His (Ensembl:ENST00000373991) - c.346T>C (Ensembl:ENST00000373991) - p.Tyr116His (Ensembl:ENST00000615116) - c.346T>C (Ensembl:ENST00000615116) - p.Tyr116His (Ensembl:ENST00000305978) - c.346T>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs780916885 | 117 | Q>E | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.597) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000020.11:g.35953936G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953936G>C Locations: - p.Gln117Glu (Ensembl:ENST00000305978) - c.349C>G (Ensembl:ENST00000305978) - p.Gln117Glu (Ensembl:ENST00000615116) - c.349C>G (Ensembl:ENST00000615116) - p.Gln117Glu (Ensembl:ENST00000373991) - c.349C>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs2056208484 | 117 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.693) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.35953935T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953935T>C Locations: - p.Gln117Arg (Ensembl:ENST00000373991) - c.350A>G (Ensembl:ENST00000373991) - p.Gln117Arg (Ensembl:ENST00000615116) - c.350A>G (Ensembl:ENST00000615116) - p.Gln117Arg (Ensembl:ENST00000305978) - c.350A>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1229791270 | 118 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000020.11:g.35953931A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953931A>C Locations: - p.Asp118Glu (Ensembl:ENST00000305978) - c.354T>G (Ensembl:ENST00000305978) - p.Asp118Glu (Ensembl:ENST00000373991) - c.354T>G (Ensembl:ENST00000373991) - p.Asp118Glu (Ensembl:ENST00000615116) - c.354T>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1300962021 | 118 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35953933C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953933C>T Locations: - p.Asp118Asn (Ensembl:ENST00000305978) - c.352G>A (Ensembl:ENST00000305978) - p.Asp118Asn (Ensembl:ENST00000615116) - c.352G>A (Ensembl:ENST00000615116) - p.Asp118Asn (Ensembl:ENST00000373991) - c.352G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs746428013 | 119 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35953929G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953929G>C Locations: - p.Ala119Gly (Ensembl:ENST00000615116) - c.356C>G (Ensembl:ENST00000615116) - p.Ala119Gly (Ensembl:ENST00000373991) - c.356C>G (Ensembl:ENST00000373991) - p.Ala119Gly (Ensembl:ENST00000305978) - c.356C>G (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs746428013 | 119 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000020.11:g.35953929G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953929G>A Locations: - p.Ala119Val (Ensembl:ENST00000373991) - c.356C>T (Ensembl:ENST00000373991) - p.Ala119Val (Ensembl:ENST00000305978) - c.356C>T (Ensembl:ENST00000305978) - p.Ala119Val (Ensembl:ENST00000615116) - c.356C>T (Ensembl:ENST00000615116) Source type: large scale study | |||||||
rs1021606075 | 120 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35953926G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953926G>A Locations: - p.Ala120Val (Ensembl:ENST00000615116) - c.359C>T (Ensembl:ENST00000615116) - p.Ala120Val (Ensembl:ENST00000305978) - c.359C>T (Ensembl:ENST00000305978) - p.Ala120Val (Ensembl:ENST00000373991) - c.359C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV100019030 rs779533961 | 121 | G>S | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000020.11:g.35953924C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953924C>T Locations: - p.Gly121Ser (Ensembl:ENST00000305978) - c.361G>A (Ensembl:ENST00000305978) - p.Gly121Ser (Ensembl:ENST00000615116) - c.361G>A (Ensembl:ENST00000615116) - p.Gly121Ser (Ensembl:ENST00000373991) - c.361G>A (Ensembl:ENST00000373991) Source type: large scale study | |||||||
COSV105899928 | 123 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35953917C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35953917C>A Locations: - p.Arg123Leu (cosmic curated:ENST00000615116) - c.368G>T (cosmic curated:ENST00000615116) - p.Arg123Leu (cosmic curated:ENST00000305978) - c.368G>T (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1304273653 | 123 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953918G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953918G>A Locations: - p.Arg123Trp (Ensembl:ENST00000305978) - c.367C>T (Ensembl:ENST00000305978) - p.Arg123Trp (Ensembl:ENST00000615116) - c.367C>T (Ensembl:ENST00000615116) - p.Arg123Trp (Ensembl:ENST00000373991) - c.367C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1464184216 | 124 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000020.11:g.35953913C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953913C>A Locations: - p.Glu124Asp (Ensembl:ENST00000615116) - c.372G>T (Ensembl:ENST00000615116) - p.Glu124Asp (Ensembl:ENST00000373991) - c.372G>T (Ensembl:ENST00000373991) - p.Glu124Asp (Ensembl:ENST00000305978) - c.372G>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2056208038 | 124 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35953915C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953915C>T Locations: - p.Glu124Lys (Ensembl:ENST00000373991) - c.370G>A (Ensembl:ENST00000373991) - p.Glu124Lys (Ensembl:ENST00000615116) - c.370G>A (Ensembl:ENST00000615116) - p.Glu124Lys (Ensembl:ENST00000305978) - c.370G>A (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs754166408 | 125 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35953912C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953912C>T Locations: - p.Ala125Thr (Ensembl:ENST00000305978) - c.373G>A (Ensembl:ENST00000305978) - p.Ala125Thr (Ensembl:ENST00000615116) - c.373G>A (Ensembl:ENST00000615116) - p.Ala125Thr (Ensembl:ENST00000373991) - c.373G>A (Ensembl:ENST00000373991) Source type: large scale study | |||||||
TCGA novel | 126 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000020.11:g.35953907G>T Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953907G>T Locations: - c.378C>A (NCI-TCGA:ENST00000305978) - p.F126L (NCI-TCGA:ENST00000305978) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1176455095 | 126 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953908A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953908A>G Locations: - p.Phe126Ser (Ensembl:ENST00000615116) - c.377T>C (Ensembl:ENST00000615116) - p.Phe126Ser (Ensembl:ENST00000373991) - c.377T>C (Ensembl:ENST00000373991) - p.Phe126Ser (Ensembl:ENST00000305978) - c.377T>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2056207784 | 127 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.814) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000020.11:g.35953905C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953905C>T Locations: - p.Arg127Gln (Ensembl:ENST00000615116) - c.380G>A (Ensembl:ENST00000615116) - p.Arg127Gln (Ensembl:ENST00000305978) - c.380G>A (Ensembl:ENST00000305978) - p.Arg127Gln (Ensembl:ENST00000373991) - c.380G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV100018982 rs1009379814 | 127 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000020.11:g.35953906G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953906G>A Locations: - p.R127W (NCI-TCGA:ENST00000373991) - p.R127W (NCI-TCGA:ENST00000615116) - p.R127W (NCI-TCGA:ENST00000305978) - p.Arg127Trp (Ensembl:ENST00000615116) - c.379C>T (Ensembl:ENST00000615116) - p.Arg127Trp (Ensembl:ENST00000305978) - c.379C>T (Ensembl:ENST00000305978) - p.Arg127Trp (Ensembl:ENST00000373991) - c.379C>T (Ensembl:ENST00000373991) Source type: large scale study | |||||||
rs1307749291 | 128 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.35953903G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953903G>A Locations: - p.Gln128Ter (Ensembl:ENST00000373991) - c.382C>T (Ensembl:ENST00000373991) - p.Gln128Ter (Ensembl:ENST00000615116) - c.382C>T (Ensembl:ENST00000615116) - p.Gln128Ter (Ensembl:ENST00000305978) - c.382C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1388314342 | 128 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000020.11:g.35953901C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953901C>A Locations: - p.Gln128His (Ensembl:ENST00000305978) - c.384G>T (Ensembl:ENST00000305978) - p.Gln128His (Ensembl:ENST00000615116) - c.384G>T (Ensembl:ENST00000615116) - p.Gln128His (Ensembl:ENST00000373991) - c.384G>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs756357760 | 128 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000020.11:g.35953902T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953902T>C Locations: - p.Gln128Arg (Ensembl:ENST00000305978) - c.383A>G (Ensembl:ENST00000305978) - p.Gln128Arg (Ensembl:ENST00000615116) - c.383A>G (Ensembl:ENST00000615116) - p.Gln128Arg (Ensembl:ENST00000373991) - c.383A>G (Ensembl:ENST00000373991) Source type: large scale study | |||||||
rs752946008 | 131 | E>* | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.35953894C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953894C>A Locations: - p.Glu131Ter (Ensembl:ENST00000373991) - c.391G>T (Ensembl:ENST00000373991) - p.Glu131Ter (Ensembl:ENST00000305978) - c.391G>T (Ensembl:ENST00000305978) - p.Glu131Ter (Ensembl:ENST00000615116) - c.391G>T (Ensembl:ENST00000615116) Source type: large scale study | |||||||
rs752946008 | 131 | E>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35953894C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953894C>T Locations: - p.Glu131Lys (Ensembl:ENST00000615116) - c.391G>A (Ensembl:ENST00000615116) - p.Glu131Lys (Ensembl:ENST00000305978) - c.391G>A (Ensembl:ENST00000305978) - p.Glu131Lys (Ensembl:ENST00000373991) - c.391G>A (Ensembl:ENST00000373991) Source type: large scale study | |||||||
rs200428800 | 133 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000020.11:g.35953888A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953888A>G Locations: - p.Ser133Pro (Ensembl:ENST00000373991) - c.397T>C (Ensembl:ENST00000373991) - p.Ser133Pro (Ensembl:ENST00000305978) - c.397T>C (Ensembl:ENST00000305978) - p.Ser133Pro (Ensembl:ENST00000615116) - c.397T>C (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1280079777 | 134 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000020.11:g.35953885G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953885G>A Locations: - p.Arg134Cys (Ensembl:ENST00000615116) - c.400C>T (Ensembl:ENST00000615116) - p.Arg134Cys (Ensembl:ENST00000305978) - c.400C>T (Ensembl:ENST00000305978) - p.Arg134Cys (Ensembl:ENST00000373991) - c.400C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1280079777 | 134 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000020.11:g.35953885G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953885G>C Locations: - p.Arg134Gly (Ensembl:ENST00000373991) - c.400C>G (Ensembl:ENST00000373991) - p.Arg134Gly (Ensembl:ENST00000615116) - c.400C>G (Ensembl:ENST00000615116) - p.Arg134Gly (Ensembl:ENST00000305978) - c.400C>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
COSV100018983 | 134 | R>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35953884C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35953884C>T Locations: - p.Arg134His (cosmic curated:ENST00000305978) - c.401G>A (cosmic curated:ENST00000305978) - p.Arg134His (cosmic curated:ENST00000615116) - c.401G>A (cosmic curated:ENST00000615116) Source type: large scale study Cross-references: | |||||||
COSV105191365 rs2056207244 | 135 | Q>* | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35953882-35953883GG>AA, NC_000020.11:g.35953882G>A Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953882-35953883GG>AA, NC_000020.11:g.35953882G>A Locations: - p.Gln135Ter (cosmic curated:ENST00000305978) - c.402_403delinsTT (cosmic curated:ENST00000305978) - p.Gln135Ter (cosmic curated:ENST00000615116) - c.402_403delinsTT (cosmic curated:ENST00000615116) - p.Gln135Ter (Ensembl:ENST00000615116) - c.403C>T (Ensembl:ENST00000615116) - p.Gln135Ter (Ensembl:ENST00000305978) - c.403C>T (Ensembl:ENST00000305978) - p.Gln135Ter (Ensembl:ENST00000373991) - c.403C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1273156978 | 136 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953877C>A, NC_000020.11:g.35953877C>G Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953877C>A, NC_000020.11:g.35953877C>G Locations: - c.408G>T (NCI-TCGA:ENST00000305978) - p.W136C (NCI-TCGA:ENST00000305978) - p.Trp136Cys (Ensembl:ENST00000615116) - c.408G>C (Ensembl:ENST00000615116) - p.Trp136Cys (Ensembl:ENST00000373991) - c.408G>C (Ensembl:ENST00000373991) - p.Trp136Cys (Ensembl:ENST00000305978) - c.408G>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1228278078 | 137 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953876G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953876G>C Locations: - p.Leu137Val (Ensembl:ENST00000373991) - c.409C>G (Ensembl:ENST00000373991) - p.Leu137Val (Ensembl:ENST00000615116) - c.409C>G (Ensembl:ENST00000615116) - p.Leu137Val (Ensembl:ENST00000305978) - c.409C>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1340570484 | 138 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.35953872C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953872C>T Locations: - p.Arg138Gln (Ensembl:ENST00000305978) - c.413G>A (Ensembl:ENST00000305978) - p.Arg138Gln (Ensembl:ENST00000373991) - c.413G>A (Ensembl:ENST00000373991) - p.Arg138Gln (Ensembl:ENST00000615116) - c.413G>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1393932078 | 139 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953869G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953869G>T Locations: - p.Pro139His (Ensembl:ENST00000373991) - c.416C>A (Ensembl:ENST00000373991) - p.Pro139His (Ensembl:ENST00000305978) - c.416C>A (Ensembl:ENST00000305978) - p.Pro139His (Ensembl:ENST00000615116) - c.416C>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1393932078 | 139 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953869G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953869G>A Locations: - p.Pro139Leu (Ensembl:ENST00000615116) - c.416C>T (Ensembl:ENST00000615116) - p.Pro139Leu (Ensembl:ENST00000373991) - c.416C>T (Ensembl:ENST00000373991) - p.Pro139Leu (Ensembl:ENST00000305978) - c.416C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1314193133 | 139 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35953870G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953870G>A Locations: - p.Pro139Ser (Ensembl:ENST00000373991) - c.415C>T (Ensembl:ENST00000373991) - p.Pro139Ser (Ensembl:ENST00000615116) - c.415C>T (Ensembl:ENST00000615116) - p.Pro139Ser (Ensembl:ENST00000305978) - c.415C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
COSV106097847 | 142 | R>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35953861G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35953861G>C Locations: - p.Arg142Gly (cosmic curated:ENST00000305978) - c.424C>G (cosmic curated:ENST00000305978) - p.Arg142Gly (cosmic curated:ENST00000615116) - c.424C>G (cosmic curated:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1568830045 | 142 | R>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35953860C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953860C>A Locations: - p.Arg142Leu (Ensembl:ENST00000615116) - c.425G>T (Ensembl:ENST00000615116) - p.Arg142Leu (Ensembl:ENST00000305978) - c.425G>T (Ensembl:ENST00000305978) - p.Arg142Leu (Ensembl:ENST00000373991) - c.425G>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1568830045 | 142 | R>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953860C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953860C>G Locations: - p.Arg142Pro (Ensembl:ENST00000615116) - c.425G>C (Ensembl:ENST00000615116) - p.Arg142Pro (Ensembl:ENST00000305978) - c.425G>C (Ensembl:ENST00000305978) - p.Arg142Pro (Ensembl:ENST00000373991) - c.425G>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs2056206607 | 143 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953858T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953858T>C Locations: - p.Thr143Ala (Ensembl:ENST00000615116) - c.427A>G (Ensembl:ENST00000615116) - p.Thr143Ala (Ensembl:ENST00000305978) - c.427A>G (Ensembl:ENST00000305978) - p.Thr143Ala (Ensembl:ENST00000373991) - c.427A>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV105191366 rs1347259663 | 143 | T>I | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000020.11:g.35953857G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953857G>A Locations: - p.Thr143Ile (Ensembl:ENST00000615116) - c.428C>T (Ensembl:ENST00000615116) - p.Thr143Ile (Ensembl:ENST00000373991) - c.428C>T (Ensembl:ENST00000373991) - p.Thr143Ile (Ensembl:ENST00000305978) - c.428C>T (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs1347259663 | 143 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953857G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953857G>T Locations: - p.Thr143Asn (Ensembl:ENST00000373991) - c.428C>A (Ensembl:ENST00000373991) - p.Thr143Asn (Ensembl:ENST00000305978) - c.428C>A (Ensembl:ENST00000305978) - p.Thr143Asn (Ensembl:ENST00000615116) - c.428C>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
COSV100018890 | 144 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35953853C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35953853C>A Locations: - p.Lys144Asn (cosmic curated:ENST00000305978) - c.432G>T (cosmic curated:ENST00000305978) - p.Lys144Asn (cosmic curated:ENST00000615116) - c.432G>T (cosmic curated:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs771868386 | 145 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953851T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953851T>A Locations: - p.Glu145Val (Ensembl:ENST00000615116) - c.434A>T (Ensembl:ENST00000615116) - p.Glu145Val (Ensembl:ENST00000305978) - c.434A>T (Ensembl:ENST00000305978) - p.Glu145Val (Ensembl:ENST00000373991) - c.434A>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs11538234 | 146 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.35953849G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953849G>A Locations: - p.Gln146Ter (Ensembl:ENST00000305978) - c.436C>T (Ensembl:ENST00000305978) - p.Gln146Ter (Ensembl:ENST00000615116) - c.436C>T (Ensembl:ENST00000615116) - p.Gln146Ter (Ensembl:ENST00000373991) - c.436C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1411506115 | 146 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35953848T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953848T>C Locations: - p.Gln146Arg (Ensembl:ENST00000373991) - c.437A>G (Ensembl:ENST00000373991) - p.Gln146Arg (Ensembl:ENST00000305978) - c.437A>G (Ensembl:ENST00000305978) - p.Gln146Arg (Ensembl:ENST00000615116) - c.437A>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs2147152048 | 147 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000020.11:g.35953844G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953844G>C Locations: - p.Ile147Met (Ensembl:ENST00000305978) - c.441C>G (Ensembl:ENST00000305978) - p.Ile147Met (Ensembl:ENST00000615116) - c.441C>G (Ensembl:ENST00000615116) - p.Ile147Met (Ensembl:ENST00000373991) - c.441C>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1167937152 | 147 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35953845A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953845A>G Locations: - p.Ile147Thr (Ensembl:ENST00000373991) - c.440T>C (Ensembl:ENST00000373991) - p.Ile147Thr (Ensembl:ENST00000615116) - c.440T>C (Ensembl:ENST00000615116) - p.Ile147Thr (Ensembl:ENST00000305978) - c.440T>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1003037227 | 148 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000020.11:g.35953843C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953843C>G Locations: - p.Val148Leu (Ensembl:ENST00000615116) - c.442G>C (Ensembl:ENST00000615116) - p.Val148Leu (Ensembl:ENST00000305978) - c.442G>C (Ensembl:ENST00000305978) - p.Val148Leu (Ensembl:ENST00000373991) - c.442G>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV100019004 rs1003037227 | 148 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000020.11:g.35953843C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953843C>T Locations: - p.V148M (NCI-TCGA:ENST00000373991) - p.V148M (NCI-TCGA:ENST00000615116) - p.V148M (NCI-TCGA:ENST00000305978) - p.Val148Met (Ensembl:ENST00000615116) - c.442G>A (Ensembl:ENST00000615116) - p.Val148Met (Ensembl:ENST00000373991) - c.442G>A (Ensembl:ENST00000373991) - p.Val148Met (Ensembl:ENST00000305978) - c.442G>A (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs1369160165 | 149 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.384) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35953838C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953838C>G Locations: - p.Glu149Asp (Ensembl:ENST00000373991) - c.447G>C (Ensembl:ENST00000373991) - p.Glu149Asp (Ensembl:ENST00000615116) - c.447G>C (Ensembl:ENST00000615116) - p.Glu149Asp (Ensembl:ENST00000305978) - c.447G>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2056206249 | 150 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953836A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953836A>G Locations: - p.Met150Thr (Ensembl:ENST00000615116) - c.449T>C (Ensembl:ENST00000615116) - p.Met150Thr (Ensembl:ENST00000305978) - c.449T>C (Ensembl:ENST00000305978) - p.Met150Thr (Ensembl:ENST00000373991) - c.449T>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs2056206084 | 152 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35953831C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953831C>T Locations: - p.Val152Met (Ensembl:ENST00000305978) - c.454G>A (Ensembl:ENST00000305978) - p.Val152Met (Ensembl:ENST00000615116) - c.454G>A (Ensembl:ENST00000615116) - p.Val152Met (Ensembl:ENST00000373991) - c.454G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV107375008 | 153 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35953828G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000020.11:g.35953828G>A Locations: - p.Gln153Ter (cosmic curated:ENST00000615116) - c.457C>T (cosmic curated:ENST00000615116) - p.Gln153Ter (cosmic curated:ENST00000305978) - c.457C>T (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1257161111 | 153 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35953828G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953828G>T Locations: - p.Gln153Lys (Ensembl:ENST00000373991) - c.457C>A (Ensembl:ENST00000373991) - p.Gln153Lys (Ensembl:ENST00000615116) - c.457C>A (Ensembl:ENST00000615116) - p.Gln153Lys (Ensembl:ENST00000305978) - c.457C>A (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs905160344 | 153 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.35953827T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953827T>A Locations: - p.Gln153Leu (Ensembl:ENST00000615116) - c.458A>T (Ensembl:ENST00000615116) - p.Gln153Leu (Ensembl:ENST00000305978) - c.458A>T (Ensembl:ENST00000305978) - p.Gln153Leu (Ensembl:ENST00000373991) - c.458A>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1183126783 | 155 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35953820C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953820C>G Locations: - p.Gln155His (Ensembl:ENST00000615116) - c.465G>C (Ensembl:ENST00000615116) - p.Gln155His (Ensembl:ENST00000305978) - c.465G>C (Ensembl:ENST00000305978) - p.Gln155His (Ensembl:ENST00000373991) - c.465G>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
COSV60004634 rs897956954 | 155 | Q>R | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000020.11:g.35953821T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953821T>C Locations: - p.Gln155Arg (Ensembl:ENST00000615116) - c.464A>G (Ensembl:ENST00000615116) - p.Gln155Arg (Ensembl:ENST00000373991) - c.464A>G (Ensembl:ENST00000373991) - p.Gln155Arg (Ensembl:ENST00000305978) - c.464A>G (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs774372032 | 159 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35953810T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953810T>G Locations: - p.Ile159Leu (Ensembl:ENST00000305978) - c.475A>C (Ensembl:ENST00000305978) - p.Ile159Leu (Ensembl:ENST00000373991) - c.475A>C (Ensembl:ENST00000373991) - p.Ile159Leu (Ensembl:ENST00000615116) - c.475A>C (Ensembl:ENST00000615116) Source type: large scale study | |||||||
rs774372032 | 159 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000020.11:g.35953810T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953810T>C Locations: - p.Ile159Val (Ensembl:ENST00000615116) - c.475A>G (Ensembl:ENST00000615116) - p.Ile159Val (Ensembl:ENST00000373991) - c.475A>G (Ensembl:ENST00000373991) - p.Ile159Val (Ensembl:ENST00000305978) - c.475A>G (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs2056205601 | 160 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953806A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953806A>C Locations: - p.Leu160Arg (Ensembl:ENST00000615116) - c.479T>G (Ensembl:ENST00000615116) - p.Leu160Arg (Ensembl:ENST00000305978) - c.479T>G (Ensembl:ENST00000305978) - p.Leu160Arg (Ensembl:ENST00000373991) - c.479T>G (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs762894242 | 161 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953803G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953803G>A Locations: - p.Pro161Leu (Ensembl:ENST00000373991) - c.482C>T (Ensembl:ENST00000373991) - p.Pro161Leu (Ensembl:ENST00000615116) - c.482C>T (Ensembl:ENST00000615116) - p.Pro161Leu (Ensembl:ENST00000305978) - c.482C>T (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs762894242 | 161 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953803G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953803G>C Locations: - p.Pro161Arg (Ensembl:ENST00000615116) - c.482C>G (Ensembl:ENST00000615116) - p.Pro161Arg (Ensembl:ENST00000373991) - c.482C>G (Ensembl:ENST00000373991) - p.Pro161Arg (Ensembl:ENST00000305978) - c.482C>G (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs930339011 | 161 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953804G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953804G>A Locations: - p.Pro161Ser (Ensembl:ENST00000373991) - c.481C>T (Ensembl:ENST00000373991) - p.Pro161Ser (Ensembl:ENST00000305978) - c.481C>T (Ensembl:ENST00000305978) - p.Pro161Ser (Ensembl:ENST00000615116) - c.481C>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
COSV100019007 | 162 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000020.11:g.35953801C>A Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953801C>A Locations: - p.E162* (NCI-TCGA:ENST00000305978) - p.Glu162Ter (cosmic curated:ENST00000305978) - c.484G>T (cosmic curated:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs772891564 | 163 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.422) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35953798C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953798C>A Locations: - p.Ala163Ser (Ensembl:ENST00000615116) - c.487G>T (Ensembl:ENST00000615116) - p.Ala163Ser (Ensembl:ENST00000373991) - c.487G>T (Ensembl:ENST00000373991) - p.Ala163Ser (Ensembl:ENST00000305978) - c.487G>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs772891564 | 163 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.603) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35953798C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953798C>T Locations: - p.Ala163Thr (Ensembl:ENST00000615116) - c.487G>A (Ensembl:ENST00000615116) - p.Ala163Thr (Ensembl:ENST00000373991) - c.487G>A (Ensembl:ENST00000373991) - p.Ala163Thr (Ensembl:ENST00000305978) - c.487G>A (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs2056205434 | 163 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.678) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35953797G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953797G>A Locations: - p.Ala163Val (Ensembl:ENST00000373991) - c.488C>T (Ensembl:ENST00000373991) - p.Ala163Val (Ensembl:ENST00000615116) - c.488C>T (Ensembl:ENST00000615116) - p.Ala163Val (Ensembl:ENST00000305978) - c.488C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs888045270 | 164 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000020.11:g.35953795C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953795C>A Locations: - p.Ala164Ser (Ensembl:ENST00000373991) - c.490G>T (Ensembl:ENST00000373991) - p.Ala164Ser (Ensembl:ENST00000615116) - c.490G>T (Ensembl:ENST00000615116) - p.Ala164Ser (Ensembl:ENST00000305978) - c.490G>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs888045270 | 164 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000020.11:g.35953795C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953795C>T Locations: - p.Ala164Thr (Ensembl:ENST00000305978) - c.490G>A (Ensembl:ENST00000305978) - p.Ala164Thr (Ensembl:ENST00000373991) - c.490G>A (Ensembl:ENST00000373991) - p.Ala164Thr (Ensembl:ENST00000615116) - c.490G>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs769631736 | 165 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35953792G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953792G>C Locations: - p.Arg165Gly (Ensembl:ENST00000373991) - c.493C>G (Ensembl:ENST00000373991) - p.Arg165Gly (Ensembl:ENST00000615116) - c.493C>G (Ensembl:ENST00000615116) - p.Arg165Gly (Ensembl:ENST00000305978) - c.493C>G (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs1333519018 | 165 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.35953791C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953791C>G Locations: - p.Arg165Pro (Ensembl:ENST00000373991) - c.494G>C (Ensembl:ENST00000373991) - p.Arg165Pro (Ensembl:ENST00000615116) - c.494G>C (Ensembl:ENST00000615116) - p.Arg165Pro (Ensembl:ENST00000305978) - c.494G>C (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs769631736 | 165 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953792G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953792G>A Locations: - p.Arg165Trp (Ensembl:ENST00000615116) - c.493C>T (Ensembl:ENST00000615116) - p.Arg165Trp (Ensembl:ENST00000373991) - c.493C>T (Ensembl:ENST00000373991) - p.Arg165Trp (Ensembl:ENST00000305978) - c.493C>T (Ensembl:ENST00000305978) Source type: large scale study | |||||||
rs776402482 | 166 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35953788G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953788G>T Locations: - p.Ala166Asp (Ensembl:ENST00000373991) - c.497C>A (Ensembl:ENST00000373991) - p.Ala166Asp (Ensembl:ENST00000305978) - c.497C>A (Ensembl:ENST00000305978) - p.Ala166Asp (Ensembl:ENST00000615116) - c.497C>A (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs868619945 | 166 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.35953789C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953789C>A Locations: - p.Ala166Ser (Ensembl:ENST00000373991) - c.496G>T (Ensembl:ENST00000373991) - p.Ala166Ser (Ensembl:ENST00000305978) - c.496G>T (Ensembl:ENST00000305978) - p.Ala166Ser (Ensembl:ENST00000615116) - c.496G>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs868619945 | 166 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35953789C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953789C>T Locations: - p.Ala166Thr (Ensembl:ENST00000615116) - c.496G>A (Ensembl:ENST00000615116) - p.Ala166Thr (Ensembl:ENST00000373991) - c.496G>A (Ensembl:ENST00000373991) - p.Ala166Thr (Ensembl:ENST00000305978) - c.496G>A (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs779651131 | 167 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953786G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953786G>C Locations: - p.Arg167Gly (Ensembl:ENST00000615116) - c.499C>G (Ensembl:ENST00000615116) - p.Arg167Gly (Ensembl:ENST00000373991) - c.499C>G (Ensembl:ENST00000373991) - p.Arg167Gly (Ensembl:ENST00000305978) - c.499C>G (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs779651131 | 167 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.35953786G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953786G>A Locations: - p.Arg167Trp (Ensembl:ENST00000305978) - c.499C>T (Ensembl:ENST00000305978) - p.Arg167Trp (Ensembl:ENST00000373991) - c.499C>T (Ensembl:ENST00000373991) - p.Arg167Trp (Ensembl:ENST00000615116) - c.499C>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1387285105 | 168 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35953783G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953783G>A Locations: - p.Arg168Trp (Ensembl:ENST00000305978) - c.502C>T (Ensembl:ENST00000305978) - p.Arg168Trp (Ensembl:ENST00000373991) - c.502C>T (Ensembl:ENST00000373991) - p.Arg168Trp (Ensembl:ENST00000615116) - c.502C>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs749797300 | 169 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.35953779A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953779A>G Locations: - p.Ile169Thr (Ensembl:ENST00000305978) - c.506T>C (Ensembl:ENST00000305978) - p.Ile169Thr (Ensembl:ENST00000373991) - c.506T>C (Ensembl:ENST00000373991) - p.Ile169Thr (Ensembl:ENST00000615116) - c.506T>C (Ensembl:ENST00000615116) Source type: large scale study | |||||||
rs1456489169 | 170 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953777G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953777G>A Locations: - p.Arg170Cys (Ensembl:ENST00000615116) - c.508C>T (Ensembl:ENST00000615116) - p.Arg170Cys (Ensembl:ENST00000373991) - c.508C>T (Ensembl:ENST00000373991) - p.Arg170Cys (Ensembl:ENST00000305978) - c.508C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1043006 | 170 | R>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.526) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35953776C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953776C>G Locations: - p.Arg170Pro (Ensembl:ENST00000615116) - c.509G>C (Ensembl:ENST00000615116) - p.Arg170Pro (Ensembl:ENST00000305978) - c.509G>C (Ensembl:ENST00000305978) - p.Arg170Pro (Ensembl:ENST00000373991) - c.509G>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1456489169 | 170 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.216) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000020.11:g.35953777G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953777G>T Locations: - p.Arg170Ser (Ensembl:ENST00000615116) - c.508C>A (Ensembl:ENST00000615116) - p.Arg170Ser (Ensembl:ENST00000305978) - c.508C>A (Ensembl:ENST00000305978) - p.Arg170Ser (Ensembl:ENST00000373991) - c.508C>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs2147151905 | 171 | R>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000020.11:g.35953774G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953774G>A Locations: - p.Arg171Cys (Ensembl:ENST00000615116) - c.511C>T (Ensembl:ENST00000615116) - p.Arg171Cys (Ensembl:ENST00000305978) - c.511C>T (Ensembl:ENST00000305978) - p.Arg171Cys (Ensembl:ENST00000373991) - c.511C>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1043010 | 171 | R>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35953773C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953773C>G Locations: - p.Arg171Pro (Ensembl:ENST00000305978) - c.512G>C (Ensembl:ENST00000305978) - p.Arg171Pro (Ensembl:ENST00000615116) - c.512G>C (Ensembl:ENST00000615116) - p.Arg171Pro (Ensembl:ENST00000373991) - c.512G>C (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1417220021 | 172 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35953770C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953770C>T Locations: - p.Arg172His (Ensembl:ENST00000615116) - c.515G>A (Ensembl:ENST00000615116) - p.Arg172His (Ensembl:ENST00000373991) - c.515G>A (Ensembl:ENST00000373991) - p.Arg172His (Ensembl:ENST00000305978) - c.515G>A (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1417220021 | 172 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953770C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953770C>A Locations: - p.Arg172Leu (Ensembl:ENST00000615116) - c.515G>T (Ensembl:ENST00000615116) - p.Arg172Leu (Ensembl:ENST00000373991) - c.515G>T (Ensembl:ENST00000373991) - p.Arg172Leu (Ensembl:ENST00000305978) - c.515G>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1420611555 | 172 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953771G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953771G>T Locations: - p.Arg172Ser (Ensembl:ENST00000615116) - c.514C>A (Ensembl:ENST00000615116) - p.Arg172Ser (Ensembl:ENST00000305978) - c.514C>A (Ensembl:ENST00000305978) - p.Arg172Ser (Ensembl:ENST00000373991) - c.514C>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs976872348 | 173 | T>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.35953767G>T Codon: ACG/AAG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953767G>T Locations: - p.Thr173Lys (Ensembl:ENST00000305978) - c.518C>A (Ensembl:ENST00000305978) - p.Thr173Lys (Ensembl:ENST00000615116) - c.518C>A (Ensembl:ENST00000615116) - p.Thr173Lys (Ensembl:ENST00000373991) - c.518C>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs1404415410 | 173 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000020.11:g.35953768T>A Codon: ACG/TCG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953768T>A Locations: - p.Thr173Ser (Ensembl:ENST00000615116) - c.517A>T (Ensembl:ENST00000615116) - p.Thr173Ser (Ensembl:ENST00000373991) - c.517A>T (Ensembl:ENST00000373991) - p.Thr173Ser (Ensembl:ENST00000305978) - c.517A>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1410218336 | 174 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953763A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953763A>T Locations: - p.Asp174Glu (Ensembl:ENST00000305978) - c.522T>A (Ensembl:ENST00000305978) - p.Asp174Glu (Ensembl:ENST00000615116) - c.522T>A (Ensembl:ENST00000615116) - p.Asp174Glu (Ensembl:ENST00000373991) - c.522T>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs2147151868 | 174 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000020.11:g.35953764T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953764T>C Locations: - p.Asp174Gly (Ensembl:ENST00000373991) - c.521A>G (Ensembl:ENST00000373991) - p.Asp174Gly (Ensembl:ENST00000305978) - c.521A>G (Ensembl:ENST00000305978) - p.Asp174Gly (Ensembl:ENST00000615116) - c.521A>G (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs534528288 | 174 | D>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.35953765C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953765C>T Locations: - p.Asp174Asn (Ensembl:ENST00000305978) - c.520G>A (Ensembl:ENST00000305978) - p.Asp174Asn (Ensembl:ENST00000615116) - c.520G>A (Ensembl:ENST00000615116) - p.Asp174Asn (Ensembl:ENST00000373991) - c.520G>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs534528288 | 174 | D>Y | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953765C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953765C>A Locations: - p.Asp174Tyr (Ensembl:ENST00000615116) - c.520G>T (Ensembl:ENST00000615116) - p.Asp174Tyr (Ensembl:ENST00000373991) - c.520G>T (Ensembl:ENST00000373991) - p.Asp174Tyr (Ensembl:ENST00000305978) - c.520G>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs943803741 | 175 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953762C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953762C>A Locations: - p.Val175Leu (Ensembl:ENST00000305978) - c.523G>T (Ensembl:ENST00000305978) - p.Val175Leu (Ensembl:ENST00000373991) - c.523G>T (Ensembl:ENST00000373991) - p.Val175Leu (Ensembl:ENST00000615116) - c.523G>T (Ensembl:ENST00000615116) Source type: large scale study Cross-references: | |||||||
rs1452538599 | 176 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953759G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953759G>A Locations: - p.Arg176Cys (Ensembl:ENST00000373991) - c.526C>T (Ensembl:ENST00000373991) - p.Arg176Cys (Ensembl:ENST00000615116) - c.526C>T (Ensembl:ENST00000615116) - p.Arg176Cys (Ensembl:ENST00000305978) - c.526C>T (Ensembl:ENST00000305978) Source type: large scale study Cross-references: | |||||||
rs1270181351 | 176 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.35953758C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953758C>A Locations: - p.Arg176Leu (Ensembl:ENST00000305978) - c.527G>T (Ensembl:ENST00000305978) - p.Arg176Leu (Ensembl:ENST00000615116) - c.527G>T (Ensembl:ENST00000615116) - p.Arg176Leu (Ensembl:ENST00000373991) - c.527G>T (Ensembl:ENST00000373991) Source type: large scale study Cross-references: | |||||||
rs2056204245 | 180 | *>R | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000020.11:g.35953747A>T Codon: TGA/AGA Consequence type: stop lost Cytogenetic band: 20q11.23 Genomic location: NC_000020.11:g.35953747A>T Locations: - p.Ter180ArgextTer? (Ensembl:ENST00000305978) - c.538T>A (Ensembl:ENST00000305978) - p.Ter180ArgextTer? (Ensembl:ENST00000615116) - c.538T>A (Ensembl:ENST00000615116) - p.Ter180ArgextTer? (Ensembl:ENST00000373991) - c.538T>A (Ensembl:ENST00000373991) Source type: large scale study Cross-references: |