F2Z2R4 · F2Z2R4_HUMAN
- ProteinERCC excision repair 6 like 2
- GeneERCC6L2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids207 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
RCV002010024 rs1827240979 | 2 | D>G | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95876043A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876043A>G Locations: - p.Asp2Gly (Ensembl:ENST00000456993) - c.5A>G (Ensembl:ENST00000456993) - p.Asp2Gly (Ensembl:ENST00000682748) - c.5A>G (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs768362145 | 2 | D>N | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95876042G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876042G>A Locations: - p.Asp2Asn (Ensembl:ENST00000456993) - c.4G>A (Ensembl:ENST00000456993) - p.Asp2Asn (Ensembl:ENST00000682748) - c.4G>A (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs776425022 | 3 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000009.12:g.95876045C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876045C>G Locations: - p.Pro3Ala (Ensembl:ENST00000682748) - c.7C>G (Ensembl:ENST00000682748) - p.Pro3Ala (Ensembl:ENST00000456993) - c.7C>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
RCV001932283 rs151308487 | 3 | P>L | Benign (Ensembl) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.95876046C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876046C>T Locations: - p.Pro3Leu (Ensembl:ENST00000456993) - c.8C>T (Ensembl:ENST00000456993) - p.Pro3Leu (Ensembl:ENST00000682748) - c.8C>T (Ensembl:ENST00000682748) Source type: large scale study | |||||||
RCV001515732 RCV001821820 RCV003980541 rs151308487 | 3 | P>Q | ERCC6L2-related disorder (ClinVar) | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.0018 (ClinVar) Accession: NC_000009.12:g.95876046C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876046C>A Locations: - p.Pro3Gln (Ensembl:ENST00000456993) - c.8C>A (Ensembl:ENST00000456993) - p.Pro3Gln (Ensembl:ENST00000682748) - c.8C>A (Ensembl:ENST00000682748) Disease association: - ERCC6L2-related disorder Source type: large scale study | |||||||
rs769611647 | 4 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.00003449 (gnomAD) Accession: NC_000009.12:g.95876049C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876049C>T Locations: - p.S4L (NCI-TCGA:ENST00000456993) - p.Ser4Leu (Ensembl:ENST00000456993) - c.11C>T (Ensembl:ENST00000456993) - p.Ser4Leu (Ensembl:ENST00000682748) - c.11C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1827241755 | 4 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95876048T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876048T>C Locations: - p.Ser4Pro (Ensembl:ENST00000682748) - c.10T>C (Ensembl:ENST00000682748) - p.Ser4Pro (Ensembl:ENST00000456993) - c.10T>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs769611647 | 4 | S>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95876049C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876049C>G Locations: - p.Ser4Trp (Ensembl:ENST00000456993) - c.11C>G (Ensembl:ENST00000456993) - p.Ser4Trp (Ensembl:ENST00000682748) - c.11C>G (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs1220583916 | 5 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.566) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95876051G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876051G>C Locations: - p.Ala5Pro (Ensembl:ENST00000682748) - c.13G>C (Ensembl:ENST00000682748) - p.Ala5Pro (Ensembl:ENST00000456993) - c.13G>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs760749677 | 6 | P>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.433) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95876055C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876055C>T Locations: - p.Pro6Leu (Ensembl:ENST00000456993) - c.17C>T (Ensembl:ENST00000456993) - p.Pro6Leu (Ensembl:ENST00000682748) - c.17C>T (Ensembl:ENST00000682748) Source type: large scale study | |||||||
RCV002048643 rs760749677 | 6 | P>Q | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.557) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000009.12:g.95876055C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876055C>A Locations: - p.Pro6Gln (Ensembl:ENST00000456993) - c.17C>A (Ensembl:ENST00000456993) - p.Pro6Gln (Ensembl:ENST00000682748) - c.17C>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
CA5139208 RCV000480857 RCV001270090 rs778926161 | 7 | Q>* | Pancytopenia-developmental delay syndrome (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.95876057C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876057C>T Locations: - p.Gln7Ter (Ensembl:ENST00000456993) - c.19C>T (Ensembl:ENST00000456993) - p.Gln7Ter (Ensembl:ENST00000682748) - c.19C>T (Ensembl:ENST00000682748) Disease association: - Pancytopenia-developmental delay syndrome Source type: large scale study | |||||||
CA5139209 RCV000224070 RCV003929924 rs139286981 | 7 | Q>H | ERCC6L2-related disorder (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00559 (ClinVar) Accession: NC_000009.12:g.95876059G>C, NC_000009.12:g.95876059G>T Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876059G>C, NC_000009.12:g.95876059G>T Locations: - p.Gln7His (Ensembl:ENST00000456993) - c.21G>C (Ensembl:ENST00000456993) - p.Gln7His (Ensembl:ENST00000682748) - c.21G>C (Ensembl:ENST00000682748) - c.21G>T (Ensembl:ENST00000682748) - c.21G>T (Ensembl:ENST00000456993) Disease association: - ERCC6L2-related disorder Source type: large scale study | |||||||
rs1827243363 | 7 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95876058A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876058A>C Locations: - p.Gln7Pro (Ensembl:ENST00000682748) - c.20A>C (Ensembl:ENST00000682748) - p.Gln7Pro (Ensembl:ENST00000456993) - c.20A>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1388011197 | 8 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95876061C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876061C>G Locations: - p.Pro8Arg (Ensembl:ENST00000456993) - c.23C>G (Ensembl:ENST00000456993) - p.Pro8Arg (Ensembl:ENST00000682748) - c.23C>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs865819226 | 8 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000009.12:g.95876060C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876060C>T Locations: - p.Pro8Ser (Ensembl:ENST00000682748) - c.22C>T (Ensembl:ENST00000682748) - p.Pro8Ser (Ensembl:ENST00000456993) - c.22C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs951299785 | 9 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000009.12:g.95876063C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876063C>T Locations: - p.Arg9Cys (Ensembl:ENST00000456993) - c.25C>T (Ensembl:ENST00000456993) - p.Arg9Cys (Ensembl:ENST00000682748) - c.25C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs951299785 | 9 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000009.12:g.95876063C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876063C>G Locations: - p.Arg9Gly (Ensembl:ENST00000456993) - c.25C>G (Ensembl:ENST00000456993) - p.Arg9Gly (Ensembl:ENST00000682748) - c.25C>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1350060339 | 9 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000009.12:g.95876064G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876064G>A Locations: - p.Arg9His (Ensembl:ENST00000456993) - c.26G>A (Ensembl:ENST00000456993) - p.Arg9His (Ensembl:ENST00000682748) - c.26G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1350060339 | 9 | R>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.95876064G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876064G>C Locations: - p.Arg9Pro (Ensembl:ENST00000456993) - c.26G>C (Ensembl:ENST00000456993) - p.Arg9Pro (Ensembl:ENST00000682748) - c.26G>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs951299785 | 9 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.95876063C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876063C>A Locations: - p.Arg9Ser (Ensembl:ENST00000456993) - c.25C>A (Ensembl:ENST00000456993) - p.Arg9Ser (Ensembl:ENST00000682748) - c.25C>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs750783247 | 10 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.95876066G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876066G>T Locations: - p.Ala10Ser (Ensembl:ENST00000456993) - c.28G>T (Ensembl:ENST00000456993) - p.Ala10Ser (Ensembl:ENST00000682748) - c.28G>T (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs750783247 | 10 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95876066G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876066G>A Locations: - p.Ala10Thr (Ensembl:ENST00000456993) - c.28G>A (Ensembl:ENST00000456993) - p.Ala10Thr (Ensembl:ENST00000682748) - c.28G>A (Ensembl:ENST00000682748) Source type: large scale study | |||||||
RCV001338390 rs758889766 | 10 | A>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.1) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000009.12:g.95876067C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876067C>T Locations: - p.Ala10Val (Ensembl:ENST00000682748) - c.29C>T (Ensembl:ENST00000682748) - p.Ala10Val (Ensembl:ENST00000456993) - c.29C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs982713997 | 12 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000009.12:g.95876072A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876072A>G Locations: - p.Thr12Ala (Ensembl:ENST00000456993) - c.34A>G (Ensembl:ENST00000456993) - p.Thr12Ala (Ensembl:ENST00000682748) - c.34A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs780716399 | 12 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.95876073C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876073C>T Locations: - p.Thr12Ile (Ensembl:ENST00000456993) - c.35C>T (Ensembl:ENST00000456993) - p.Thr12Ile (Ensembl:ENST00000682748) - c.35C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs982713997 | 12 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000009.12:g.95876072A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876072A>T Locations: - p.Thr12Ser (Ensembl:ENST00000682748) - c.34A>T (Ensembl:ENST00000682748) - p.Thr12Ser (Ensembl:ENST00000456993) - c.34A>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs746450201 | 13 | S>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.95876076C>G Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876076C>G Locations: - p.Ser13Ter (Ensembl:ENST00000456993) - c.38C>G (Ensembl:ENST00000456993) - p.Ser13Ter (Ensembl:ENST00000682748) - c.38C>G (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs746450201 | 13 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.95876076C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876076C>T Locations: - p.Ser13Leu (Ensembl:ENST00000456993) - c.38C>T (Ensembl:ENST00000456993) - p.Ser13Leu (Ensembl:ENST00000682748) - c.38C>T (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs780904686 | 15 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.95876081A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876081A>G Locations: - p.Lys15Glu (Ensembl:ENST00000682748) - c.43A>G (Ensembl:ENST00000682748) - p.Lys15Glu (Ensembl:ENST00000456993) - c.43A>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs543576960 | 15 | K>R | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000009.12:g.95876082A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876082A>G Locations: - p.Lys15Arg (Ensembl:ENST00000682748) - c.44A>G (Ensembl:ENST00000682748) - p.Lys15Arg (Ensembl:ENST00000456993) - c.44A>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1564189383 | 16 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.486) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95880869A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880869A>G Locations: - p.Asp16Gly (Ensembl:ENST00000456993) - c.47A>G (Ensembl:ENST00000456993) - p.Asp16Gly (Ensembl:ENST00000682748) - c.47A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs769366535 | 16 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.95876084G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95876084G>A Locations: - p.Asp16Asn (Ensembl:ENST00000682748) - c.46G>A (Ensembl:ENST00000682748) - p.Asp16Asn (Ensembl:ENST00000456993) - c.46G>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs755583805 | 17 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000009.12:g.95880873A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880873A>G Locations: - p.Ile17Met (Ensembl:ENST00000456993) - c.51A>G (Ensembl:ENST00000456993) - p.Ile17Met (Ensembl:ENST00000682748) - c.51A>G (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs1827550632 | 17 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000009.12:g.95880871A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880871A>G Locations: - p.Ile17Val (Ensembl:ENST00000682748) - c.49A>G (Ensembl:ENST00000682748) - p.Ile17Val (Ensembl:ENST00000456993) - c.49A>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
RCV002269531 rs573203064 | 18 | W>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.95880874T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880874T>C Locations: - p.Trp18Arg (Ensembl:ENST00000456993) - c.52T>C (Ensembl:ENST00000456993) - p.Trp18Arg (Ensembl:ENST00000682748) - c.52T>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1827551499 | 20 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.201) - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000009.12:g.95880880C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880880C>G Locations: - p.Pro20Ala (Ensembl:ENST00000456993) - c.58C>G (Ensembl:ENST00000456993) - p.Pro20Ala (Ensembl:ENST00000682748) - c.58C>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs752174609 | 20 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000009.12:g.95880881C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880881C>T Locations: - p.Pro20Leu (Ensembl:ENST00000456993) - c.59C>T (Ensembl:ENST00000456993) - p.Pro20Leu (Ensembl:ENST00000682748) - c.59C>T (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs1827551499 | 20 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.327) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.95880880C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880880C>T Locations: - p.Pro20Ser (Ensembl:ENST00000682748) - c.58C>T (Ensembl:ENST00000682748) - p.Pro20Ser (Ensembl:ENST00000456993) - c.58C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1827552059 | 21 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95880883G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880883G>A Locations: - p.Gly21Arg (Ensembl:ENST00000456993) - c.61G>A (Ensembl:ENST00000456993) - p.Gly21Arg (Ensembl:ENST00000682748) - c.61G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs755738672 | 23 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated - low confidence (0.96) Somatic: No Accession: NC_000009.12:g.95880890G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880890G>A Locations: - p.Arg23Lys (Ensembl:ENST00000682748) - c.68G>A (Ensembl:ENST00000682748) - p.Arg23Lys (Ensembl:ENST00000456993) - c.68G>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1375668906 | 24 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95880893G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880893G>A Locations: - p.Cys24Tyr (Ensembl:ENST00000456993) - c.71G>A (Ensembl:ENST00000456993) - p.Cys24Tyr (Ensembl:ENST00000682748) - c.71G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
RCV002035987 rs1317606477 | 26 | A>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.14) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.95880899C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880899C>T Locations: - p.Ala26Val (Ensembl:ENST00000682748) - c.77C>T (Ensembl:ENST00000682748) - p.Ala26Val (Ensembl:ENST00000456993) - c.77C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1246652809 | 27 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95880902C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880902C>G Locations: - p.Pro27Arg (Ensembl:ENST00000682748) - c.80C>G (Ensembl:ENST00000682748) - p.Pro27Arg (Ensembl:ENST00000456993) - c.80C>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs997963837 | 27 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95880901C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880901C>T Locations: - p.Pro27Ser (Ensembl:ENST00000456993) - c.79C>T (Ensembl:ENST00000456993) - p.Pro27Ser (Ensembl:ENST00000682748) - c.79C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1827553273 | 28 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.82) Somatic: No Accession: NC_000009.12:g.95880905C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880905C>T Locations: - p.Ser28Phe (Ensembl:ENST00000456993) - c.83C>T (Ensembl:ENST00000456993) - p.Ser28Phe (Ensembl:ENST00000682748) - c.83C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs777295574 | 28 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000009.12:g.95880904T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880904T>A Locations: - p.Ser28Thr (Ensembl:ENST00000456993) - c.82T>A (Ensembl:ENST00000456993) - p.Ser28Thr (Ensembl:ENST00000682748) - c.82T>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
RCV001988795 rs2132512497 | 29 | P>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.93) Somatic: No Accession: NC_000009.12:g.95880907C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880907C>A Locations: - p.Pro29Thr (Ensembl:ENST00000456993) - c.85C>A (Ensembl:ENST00000456993) - p.Pro29Thr (Ensembl:ENST00000682748) - c.85C>A (Ensembl:ENST00000682748) Source type: large scale study | |||||||
COSV56629803 rs770701064 | 32 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.000003985 (gnomAD) Accession: NC_000009.12:g.95880917G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880917G>C Locations: - p.G32A (NCI-TCGA:ENST00000456993) - p.Gly32Ala (Ensembl:ENST00000682748) - c.95G>C (Ensembl:ENST00000682748) - p.Gly32Ala (Ensembl:ENST00000456993) - c.95G>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs778732116 | 36 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.765) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95880928G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880928G>A Locations: - p.Glu36Lys (Ensembl:ENST00000456993) - c.106G>A (Ensembl:ENST00000456993) - p.Glu36Lys (Ensembl:ENST00000682748) - c.106G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs745771583 | 37 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95880931G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880931G>A Locations: - p.Ala37Thr (Ensembl:ENST00000682748) - c.109G>A (Ensembl:ENST00000682748) - p.Ala37Thr (Ensembl:ENST00000456993) - c.109G>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs374932786 | 39 | I>M | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95880939A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880939A>G Locations: - p.Ile39Met (Ensembl:ENST00000456993) - c.117A>G (Ensembl:ENST00000456993) - p.Ile39Met (Ensembl:ENST00000682748) - c.117A>G (Ensembl:ENST00000682748) Source type: large scale study | |||||||
RCV001965912 rs1827554617 | 39 | I>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.95880937A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880937A>G Locations: - p.Ile39Val (Ensembl:ENST00000456993) - c.115A>G (Ensembl:ENST00000456993) - p.Ile39Val (Ensembl:ENST00000682748) - c.115A>G (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs776723582 | 41 | S>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.882) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95880943T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880943T>G Locations: - p.Ser41Ala (Ensembl:ENST00000682748) - c.121T>G (Ensembl:ENST00000682748) - p.Ser41Ala (Ensembl:ENST00000456993) - c.121T>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs761811803 | 41 | S>C | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95880944C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880944C>G Locations: - p.Ser41Cys (Ensembl:ENST00000456993) - c.122C>G (Ensembl:ENST00000456993) - p.Ser41Cys (Ensembl:ENST00000682748) - c.122C>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs761811803 | 41 | S>F | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95880944C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880944C>T Locations: - p.Ser41Phe (Ensembl:ENST00000456993) - c.122C>T (Ensembl:ENST00000456993) - p.Ser41Phe (Ensembl:ENST00000682748) - c.122C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1827555884 | 42 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95880947T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880947T>C Locations: - p.Ile42Thr (Ensembl:ENST00000456993) - c.125T>C (Ensembl:ENST00000456993) - p.Ile42Thr (Ensembl:ENST00000682748) - c.125T>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1051162890 | 42 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000009.12:g.95880946A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880946A>G Locations: - p.Ile42Val (Ensembl:ENST00000456993) - c.124A>G (Ensembl:ENST00000456993) - p.Ile42Val (Ensembl:ENST00000682748) - c.124A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1443518175 | 44 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.95880952G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880952G>A Locations: - p.Val44Met (Ensembl:ENST00000456993) - c.130G>A (Ensembl:ENST00000456993) - p.Val44Met (Ensembl:ENST00000682748) - c.130G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1236091492 | 45 | D>N | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.95880955G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880955G>A Locations: - p.Asp45Asn (Ensembl:ENST00000682748) - c.133G>A (Ensembl:ENST00000682748) - p.Asp45Asn (Ensembl:ENST00000456993) - c.133G>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs773298441 | 45 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95880956A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880956A>T Locations: - p.Asp45Val (Ensembl:ENST00000682748) - c.134A>T (Ensembl:ENST00000682748) - p.Asp45Val (Ensembl:ENST00000456993) - c.134A>T (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs973860692 | 47 | N>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.95880961A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880961A>C Locations: - p.Asn47His (Ensembl:ENST00000456993) - c.139A>C (Ensembl:ENST00000456993) - p.Asn47His (Ensembl:ENST00000682748) - c.139A>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1160253932 | 49 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.95880969G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880969G>T Locations: - p.Lys49Asn (Ensembl:ENST00000682748) - c.147G>T (Ensembl:ENST00000682748) - p.Lys49Asn (Ensembl:ENST00000456993) - c.147G>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1827557533 | 50 | S>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.95880971C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880971C>A Locations: - p.Ser50Ter (Ensembl:ENST00000682748) - c.149C>A (Ensembl:ENST00000682748) - p.Ser50Ter (Ensembl:ENST00000456993) - c.149C>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs2132512935 | 51 | F>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.95880974T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880974T>G Locations: - p.Phe51Cys (Ensembl:ENST00000456993) - c.152T>G (Ensembl:ENST00000456993) - p.Phe51Cys (Ensembl:ENST00000682748) - c.152T>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1827557898 | 52 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95880977C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880977C>T Locations: - p.Ala52Val (Ensembl:ENST00000682748) - c.155C>T (Ensembl:ENST00000682748) - p.Ala52Val (Ensembl:ENST00000456993) - c.155C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
RCV001820371 RCV001869720 rs148041136 | 54 | V>I | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.18) Somatic: No Population frequencies: - MAF: 0.0012 (ClinVar) Accession: NC_000009.12:g.95880982G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880982G>A Locations: - p.Val54Ile (Ensembl:ENST00000456993) - c.160G>A (Ensembl:ENST00000456993) - p.Val54Ile (Ensembl:ENST00000682748) - c.160G>A (Ensembl:ENST00000682748) Source type: large scale study | |||||||
RCV001337074 RCV001476456 RCV003169579 rs141719745 | 55 | L>V | Pancytopenia-developmental delay syndrome (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: tolerated - low confidence (0.28) Somatic: No Population frequencies: - MAF: 0.0012 (ClinVar) Accession: NC_000009.12:g.95880985T>G Codon: TTA/GTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880985T>G Locations: - p.Leu55Val (Ensembl:ENST00000456993) - c.163T>G (Ensembl:ENST00000456993) - p.Leu55Val (Ensembl:ENST00000682748) - c.163T>G (Ensembl:ENST00000682748) Disease association: - Inborn genetic diseases - Pancytopenia-developmental delay syndrome Source type: large scale study | |||||||
rs2132513045 | 56 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95880988T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880988T>C Locations: - p.Tyr56His (Ensembl:ENST00000456993) - c.166T>C (Ensembl:ENST00000456993) - p.Tyr56His (Ensembl:ENST00000682748) - c.166T>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs2132513070 | 57 | A>G | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000009.12:g.95880992C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95880992C>G Locations: - p.Ala57Gly (Ensembl:ENST00000456993) - c.170C>G (Ensembl:ENST00000456993) - p.Ala57Gly (Ensembl:ENST00000682748) - c.170C>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs760074333 | 62 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95881008G>C Codon: AGG/AGC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881008G>C Locations: - p.Arg62Ser (Ensembl:ENST00000456993) - c.186G>C (Ensembl:ENST00000456993) - p.Arg62Ser (Ensembl:ENST00000682748) - c.186G>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs146034461 | 64 | I>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.95881012A>T Codon: ATA/TTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881012A>T Locations: - p.Ile64Leu (Ensembl:ENST00000456993) - c.190A>T (Ensembl:ENST00000456993) - p.Ile64Leu (Ensembl:ENST00000682748) - c.190A>T (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs963653350 | 64 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881013T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881013T>C Locations: - p.Ile64Thr (Ensembl:ENST00000682748) - c.191T>C (Ensembl:ENST00000682748) - p.Ile64Thr (Ensembl:ENST00000456993) - c.191T>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
RCV001871051 rs146034461 | 64 | I>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.41) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.95881012A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881012A>G Locations: - p.Ile64Val (Ensembl:ENST00000456993) - c.190A>G (Ensembl:ENST00000456993) - p.Ile64Val (Ensembl:ENST00000682748) - c.190A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1410054209 | 65 | P>S | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.688) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000009.12:g.95881015C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881015C>T Locations: - p.Pro65Ser (Ensembl:ENST00000456993) - c.193C>T (Ensembl:ENST00000456993) - p.Pro65Ser (Ensembl:ENST00000682748) - c.193C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1410054209 | 65 | P>T | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.688) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000009.12:g.95881015C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881015C>A Locations: - p.Pro65Thr (Ensembl:ENST00000682748) - c.193C>A (Ensembl:ENST00000682748) - p.Pro65Thr (Ensembl:ENST00000456993) - c.193C>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
RCV001317639 rs752189445 | 68 | Q>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.6) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.95881025A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881025A>G Locations: - p.Gln68Arg (Ensembl:ENST00000682748) - c.203A>G (Ensembl:ENST00000682748) - p.Gln68Arg (Ensembl:ENST00000456993) - c.203A>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1827560477 | 69 | L>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.95881026_95881027insTGAAA Codon: -/TGAAA Consequence type: stop gained Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881026_95881027insTGAAA Locations: - p.Leu69Ter (Ensembl:ENST00000682748) - c.204_205insTGAAA (Ensembl:ENST00000682748) - p.Leu69Ter (Ensembl:ENST00000456993) - c.204_205insTGAAA (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1348059120 | 69 | L>F | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.819) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.95881027C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881027C>T Locations: - p.Leu69Phe (Ensembl:ENST00000682748) - c.205C>T (Ensembl:ENST00000682748) - p.Leu69Phe (Ensembl:ENST00000456993) - c.205C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1348059120 | 69 | L>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.4) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881027C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881027C>G Locations: - p.Leu69Val (Ensembl:ENST00000682748) - c.205C>G (Ensembl:ENST00000682748) - p.Leu69Val (Ensembl:ENST00000456993) - c.205C>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs771510512 | 70 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.95881030C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881030C>T Locations: - p.Gln70Ter (Ensembl:ENST00000682748) - c.208C>T (Ensembl:ENST00000682748) - p.Gln70Ter (Ensembl:ENST00000456993) - c.208C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1827561010 | 70 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated - low confidence (0.85) Somatic: No Accession: NC_000009.12:g.95881031A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881031A>G Locations: - p.Gln70Arg (Ensembl:ENST00000456993) - c.209A>G (Ensembl:ENST00000456993) - p.Gln70Arg (Ensembl:ENST00000682748) - c.209A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs546360342 | 71 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.615) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.95881034A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881034A>G Locations: - p.Glu71Gly (Ensembl:ENST00000456993) - c.212A>G (Ensembl:ENST00000456993) - p.Glu71Gly (Ensembl:ENST00000682748) - c.212A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1256103246 | 71 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated - low confidence (0.64) Somatic: No Accession: NC_000009.12:g.95881033G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881033G>A Locations: - p.Glu71Lys (Ensembl:ENST00000456993) - c.211G>A (Ensembl:ENST00000456993) - p.Glu71Lys (Ensembl:ENST00000682748) - c.211G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1564189708 | 72 | V>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881037T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881037T>A Locations: - p.Val72Glu (Ensembl:ENST00000456993) - c.215T>A (Ensembl:ENST00000456993) - p.Val72Glu (Ensembl:ENST00000682748) - c.215T>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
RCV001952456 rs754908597 | 75 | V>G | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.43) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.95881046T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881046T>G Locations: - p.Val75Gly (Ensembl:ENST00000456993) - c.224T>G (Ensembl:ENST00000456993) - p.Val75Gly (Ensembl:ENST00000682748) - c.224T>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs777401179 | 75 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000009.12:g.95881045G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881045G>A Locations: - p.Val75Ile (Ensembl:ENST00000682748) - c.223G>A (Ensembl:ENST00000682748) - p.Val75Ile (Ensembl:ENST00000456993) - c.223G>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1340743817 | 76 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.409) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.95881048A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881048A>C Locations: - p.Lys76Gln (Ensembl:ENST00000456993) - c.226A>C (Ensembl:ENST00000456993) - p.Lys76Gln (Ensembl:ENST00000682748) - c.226A>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs756942060 | 76 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated - low confidence (0.71) Somatic: No Accession: NC_000009.12:g.95881049A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881049A>G Locations: - p.Lys76Arg (Ensembl:ENST00000456993) - c.227A>G (Ensembl:ENST00000456993) - p.Lys76Arg (Ensembl:ENST00000682748) - c.227A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs184611791 | 79 | P>A | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000009.12:g.95881057C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881057C>G Locations: - p.Pro79Ala (Ensembl:ENST00000682748) - c.235C>G (Ensembl:ENST00000682748) - p.Pro79Ala (Ensembl:ENST00000456993) - c.235C>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs367785775 | 79 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.65) Somatic: No Accession: NC_000009.12:g.95881058C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881058C>T Locations: - p.Pro79Leu (Ensembl:ENST00000456993) - c.236C>T (Ensembl:ENST00000456993) - p.Pro79Leu (Ensembl:ENST00000682748) - c.236C>T (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs367785775 | 79 | P>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000009.12:g.95881058C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881058C>G Locations: - p.Pro79Arg (Ensembl:ENST00000682748) - c.236C>G (Ensembl:ENST00000682748) - p.Pro79Arg (Ensembl:ENST00000456993) - c.236C>G (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs184611791 | 79 | P>S | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.58) Somatic: No Accession: NC_000009.12:g.95881057C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881057C>T Locations: - p.Pro79Ser (Ensembl:ENST00000682748) - c.235C>T (Ensembl:ENST00000682748) - p.Pro79Ser (Ensembl:ENST00000456993) - c.235C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
RCV001974297 rs1183139537 | 80 | R>K | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.95881061G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881061G>A Locations: - p.Arg80Lys (Ensembl:ENST00000456993) - c.239G>A (Ensembl:ENST00000456993) - p.Arg80Lys (Ensembl:ENST00000682748) - c.239G>A (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs1386538187 | 81 | N>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95881064A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881064A>C Locations: - p.Asn81Thr (Ensembl:ENST00000456993) - c.242A>C (Ensembl:ENST00000456993) - p.Asn81Thr (Ensembl:ENST00000682748) - c.242A>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1827563362 | 82 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881067T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881067T>C Locations: - p.Leu82Pro (Ensembl:ENST00000682748) - c.245T>C (Ensembl:ENST00000682748) - p.Leu82Pro (Ensembl:ENST00000456993) - c.245T>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1827563197 | 82 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000009.12:g.95881066C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881066C>G Locations: - p.Leu82Val (Ensembl:ENST00000682748) - c.244C>G (Ensembl:ENST00000682748) - p.Leu82Val (Ensembl:ENST00000456993) - c.244C>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs745683669 | 83 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881070T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881070T>C Locations: - p.Ile83Thr (Ensembl:ENST00000456993) - c.248T>C (Ensembl:ENST00000456993) - p.Ile83Thr (Ensembl:ENST00000682748) - c.248T>C (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs1471751947 | 84 | F>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881072T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881072T>A Locations: - p.Phe84Ile (Ensembl:ENST00000456993) - c.250T>A (Ensembl:ENST00000456993) - p.Phe84Ile (Ensembl:ENST00000682748) - c.250T>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs751694710 | 85 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95881075G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881075G>T Locations: - p.Asp85Tyr (Ensembl:ENST00000682748) - c.253G>T (Ensembl:ENST00000682748) - p.Asp85Tyr (Ensembl:ENST00000456993) - c.253G>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
RCV001822614 RCV001885349 rs2132513580 | 86 | D>E | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.242) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000009.12:g.95881080T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881080T>A Locations: - p.Asp86Glu (Ensembl:ENST00000682748) - c.258T>A (Ensembl:ENST00000682748) - p.Asp86Glu (Ensembl:ENST00000456993) - c.258T>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1564189764 | 86 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881078G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881078G>T Locations: - p.Asp86Tyr (Ensembl:ENST00000456993) - c.256G>T (Ensembl:ENST00000456993) - p.Asp86Tyr (Ensembl:ENST00000682748) - c.256G>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1827564168 | 87 | E>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000009.12:g.95881082A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881082A>C Locations: - p.Glu87Ala (Ensembl:ENST00000456993) - c.260A>C (Ensembl:ENST00000456993) - p.Glu87Ala (Ensembl:ENST00000682748) - c.260A>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1181094922 | 89 | L>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881088T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881088T>C Locations: - p.Leu89Ser (Ensembl:ENST00000682748) - c.266T>C (Ensembl:ENST00000682748) - p.Leu89Ser (Ensembl:ENST00000456993) - c.266T>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
RCV002006697 rs2132513643 | 90 | E>Q | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881090G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881090G>C Locations: - p.Glu90Gln (Ensembl:ENST00000682748) - c.268G>C (Ensembl:ENST00000682748) - p.Glu90Gln (Ensembl:ENST00000456993) - c.268G>C (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs1378297581 | 91 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.242) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881093A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881093A>G Locations: - p.Lys91Glu (Ensembl:ENST00000682748) - c.271A>G (Ensembl:ENST00000682748) - p.Lys91Glu (Ensembl:ENST00000456993) - c.271A>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1467514442 | 91 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881095A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881095A>C Locations: - p.Lys91Asn (Ensembl:ENST00000682748) - c.273A>C (Ensembl:ENST00000682748) - p.Lys91Asn (Ensembl:ENST00000456993) - c.273A>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
RCV002021927 RCV002573523 rs138730206 | 95 | P>A | Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.534) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00013 (ClinVar) Accession: NC_000009.12:g.95881105C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881105C>G Locations: - p.Pro95Ala (Ensembl:ENST00000456993) - c.283C>G (Ensembl:ENST00000456993) - p.Pro95Ala (Ensembl:ENST00000682748) - c.283C>G (Ensembl:ENST00000682748) Disease association: - Inborn genetic diseases Source type: large scale study | |||||||
rs1374595476 | 95 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.447) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.95881106C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881106C>G Locations: - p.Pro95Arg (Ensembl:ENST00000456993) - c.284C>G (Ensembl:ENST00000456993) - p.Pro95Arg (Ensembl:ENST00000682748) - c.284C>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1309642850 | 96 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.95881108A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881108A>G Locations: - p.Asn96Asp (Ensembl:ENST00000456993) - c.286A>G (Ensembl:ENST00000456993) - p.Asn96Asp (Ensembl:ENST00000682748) - c.286A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1564189833 | 96 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881109A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881109A>G Locations: - p.Asn96Ser (Ensembl:ENST00000682748) - c.287A>G (Ensembl:ENST00000682748) - p.Asn96Ser (Ensembl:ENST00000456993) - c.287A>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
COSV99998968 rs779856407 | 97 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000003993 (gnomAD) Accession: NC_000009.12:g.95881111C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881111C>T Locations: - p.R97* (NCI-TCGA:ENST00000456993) - p.Arg97Ter (Ensembl:ENST00000456993) - c.289C>T (Ensembl:ENST00000456993) - p.Arg97Ter (Ensembl:ENST00000682748) - c.289C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
COSV56631290 RCV001922977 rs747031724 | 97 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.59) Somatic: No Population frequencies: - MAF: 0.00001997 (gnomAD) - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.95881112G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881112G>A Locations: - p.R97Q (NCI-TCGA:ENST00000456993) - p.Arg97Gln (Ensembl:ENST00000456993) - c.290G>A (Ensembl:ENST00000456993) - p.Arg97Gln (Ensembl:ENST00000682748) - c.290G>A (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs769745940 | 98 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.95881114A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881114A>C Locations: - p.Lys98Gln (Ensembl:ENST00000456993) - c.292A>C (Ensembl:ENST00000456993) - p.Lys98Gln (Ensembl:ENST00000682748) - c.292A>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1475721197 | 99 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.95881119T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881119T>G Locations: - p.Phe99Leu (Ensembl:ENST00000456993) - c.297T>G (Ensembl:ENST00000456993) - p.Phe99Leu (Ensembl:ENST00000682748) - c.297T>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs773387043 | 99 | F>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.95881117T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881117T>G Locations: - p.Phe99Val (Ensembl:ENST00000682748) - c.295T>G (Ensembl:ENST00000682748) - p.Phe99Val (Ensembl:ENST00000456993) - c.295T>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1301948379 | 100 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.349) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.95881121C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881121C>T Locations: - p.Pro100Leu (Ensembl:ENST00000682748) - c.299C>T (Ensembl:ENST00000682748) - p.Pro100Leu (Ensembl:ENST00000456993) - c.299C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs200286500 | 101 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.95881124C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881124C>T Locations: - p.Ser101Leu (Ensembl:ENST00000682748) - c.302C>T (Ensembl:ENST00000682748) - p.Ser101Leu (Ensembl:ENST00000456993) - c.302C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs763229325 | 101 | S>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95881123T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881123T>C Locations: - p.Ser101Pro (Ensembl:ENST00000682748) - c.301T>C (Ensembl:ENST00000682748) - p.Ser101Pro (Ensembl:ENST00000456993) - c.301T>C (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs763229325 | 101 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95881123T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881123T>A Locations: - p.Ser101Thr (Ensembl:ENST00000682748) - c.301T>A (Ensembl:ENST00000682748) - p.Ser101Thr (Ensembl:ENST00000456993) - c.301T>A (Ensembl:ENST00000456993) Source type: large scale study | |||||||
RCV001866332 rs573947709 | 102 | S>F | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000009.12:g.95881127C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881127C>T Locations: - p.Ser102Phe (Ensembl:ENST00000682748) - c.305C>T (Ensembl:ENST00000682748) - p.Ser102Phe (Ensembl:ENST00000456993) - c.305C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs564457309 | 104 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000009.12:g.95881132G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881132G>A Locations: - p.Val104Ile (Ensembl:ENST00000682748) - c.310G>A (Ensembl:ENST00000682748) - p.Val104Ile (Ensembl:ENST00000456993) - c.310G>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs774802251 | 105 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.95881135G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881135G>C Locations: - p.Ala105Pro (Ensembl:ENST00000682748) - c.313G>C (Ensembl:ENST00000682748) - p.Ala105Pro (Ensembl:ENST00000456993) - c.313G>C (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs2084161493 | 106 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881140T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881140T>A Locations: - p.Phe106Leu (Ensembl:ENST00000456993) - c.318T>A (Ensembl:ENST00000456993) - p.Phe106Leu (Ensembl:ENST00000682748) - c.318T>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1196634375 | 110 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.615) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881150G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881150G>C Locations: - p.Asp110His (Ensembl:ENST00000682748) - c.328G>C (Ensembl:ENST00000682748) - p.Asp110His (Ensembl:ENST00000456993) - c.328G>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs902638468 | 110 | D>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.95881151A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881151A>T Locations: - p.Asp110Val (Ensembl:ENST00000456993) - c.329A>T (Ensembl:ENST00000456993) - p.Asp110Val (Ensembl:ENST00000682748) - c.329A>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs2132514202 | 111 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.96) Somatic: No Accession: NC_000009.12:g.95881153A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881153A>G Locations: - p.Asn111Asp (Ensembl:ENST00000456993) - c.331A>G (Ensembl:ENST00000456993) - p.Asn111Asp (Ensembl:ENST00000682748) - c.331A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
RCV002046526 RCV003348777 rs759988195 | 111 | N>K | Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.95881155T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881155T>A Locations: - p.Asn111Lys (Ensembl:ENST00000456993) - c.333T>A (Ensembl:ENST00000456993) - p.Asn111Lys (Ensembl:ENST00000682748) - c.333T>A (Ensembl:ENST00000682748) Disease association: - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs1234961688 | 111 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000009.12:g.95881154A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881154A>G Locations: - p.Asn111Ser (Ensembl:ENST00000682748) - c.332A>G (Ensembl:ENST00000682748) - p.Asn111Ser (Ensembl:ENST00000456993) - c.332A>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs2132514272 | 112 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881156G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881156G>A Locations: - p.Gly112Arg (Ensembl:ENST00000456993) - c.334G>A (Ensembl:ENST00000456993) - p.Gly112Arg (Ensembl:ENST00000682748) - c.334G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1827570035 | 114 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000009.12:g.95881163C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881163C>G Locations: - p.Ser114Cys (Ensembl:ENST00000682748) - c.341C>G (Ensembl:ENST00000682748) - p.Ser114Cys (Ensembl:ENST00000456993) - c.341C>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1827570035 | 114 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.95881163C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881163C>T Locations: - p.Ser114Phe (Ensembl:ENST00000456993) - c.341C>T (Ensembl:ENST00000456993) - p.Ser114Phe (Ensembl:ENST00000682748) - c.341C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs753131470 | 115 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.95881165A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881165A>G Locations: - p.Ile115Val (Ensembl:ENST00000456993) - c.343A>G (Ensembl:ENST00000456993) - p.Ile115Val (Ensembl:ENST00000682748) - c.343A>G (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs761294202 | 117 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000003992 (gnomAD) Accession: NC_000009.12:g.95881172A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881172A>G Locations: - p.Y117C (NCI-TCGA:ENST00000456993) - p.Tyr117Cys (Ensembl:ENST00000456993) - c.350A>G (Ensembl:ENST00000456993) - p.Tyr117Cys (Ensembl:ENST00000682748) - c.350A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1461160091 | 119 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881178T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881178T>A Locations: - p.Ile119Asn (Ensembl:ENST00000682748) - c.356T>A (Ensembl:ENST00000682748) - p.Ile119Asn (Ensembl:ENST00000456993) - c.356T>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1461160091 | 119 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881178T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881178T>C Locations: - p.Ile119Thr (Ensembl:ENST00000682748) - c.356T>C (Ensembl:ENST00000682748) - p.Ile119Thr (Ensembl:ENST00000456993) - c.356T>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1827570899 | 119 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95881177A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881177A>G Locations: - p.Ile119Val (Ensembl:ENST00000456993) - c.355A>G (Ensembl:ENST00000456993) - p.Ile119Val (Ensembl:ENST00000682748) - c.355A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
COSV99999071 rs1428222125 rs1428222125,COSV99999071 | 120 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.755) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881181A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881181A>G Locations: - p.N120S (NCI-TCGA:ENST00000456993) - p.Asn120Ser (Ensembl:ENST00000456993) - c.359A>G (Ensembl:ENST00000456993) - p.Asn120Ser (Ensembl:ENST00000682748) - c.359A>G (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs1827571900 | 124 | R>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881193G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881193G>C Locations: - p.Arg124Thr (Ensembl:ENST00000456993) - c.371G>C (Ensembl:ENST00000456993) - p.Arg124Thr (Ensembl:ENST00000682748) - c.371G>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
RCV000974250 RCV003918548 rs61746533 | 125 | D>E | ERCC6L2-related disorder (ClinVar) | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.257) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.0022 (ClinVar) Accession: NC_000009.12:g.95881197C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881197C>G Locations: - p.Asp125Glu (Ensembl:ENST00000682748) - c.375C>G (Ensembl:ENST00000682748) - p.Asp125Glu (Ensembl:ENST00000456993) - c.375C>G (Ensembl:ENST00000456993) Disease association: - ERCC6L2-related disorder Source type: large scale study | |||||||
rs201929399 | 125 | D>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.684) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881196A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881196A>T Locations: - p.Asp125Val (Ensembl:ENST00000682748) - c.374A>T (Ensembl:ENST00000682748) - p.Asp125Val (Ensembl:ENST00000456993) - c.374A>T (Ensembl:ENST00000456993) Source type: large scale study | |||||||
RCV000902882 RCV001818757 RCV002537563 rs146075543 | 127 | Q>E | Inborn genetic diseases (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00033 (ClinVar) Accession: NC_000009.12:g.95881201C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881201C>G Locations: - p.Gln127Glu (Ensembl:ENST00000682748) - c.379C>G (Ensembl:ENST00000682748) - p.Gln127Glu (Ensembl:ENST00000456993) - c.379C>G (Ensembl:ENST00000456993) Disease association: - Inborn genetic diseases Source type: large scale study | |||||||
rs750151681 | 128 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881206A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881206A>T Locations: - p.Arg128Ser (Ensembl:ENST00000456993) - c.384A>T (Ensembl:ENST00000456993) - p.Arg128Ser (Ensembl:ENST00000682748) - c.384A>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs370249357 | 129 | E>D | Variant of uncertain significance (Ensembl) | ESP TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.95881209A>C, NC_000009.12:g.95881209A>T Codon: GAA/GAC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881209A>C, NC_000009.12:g.95881209A>T Locations: - p.Glu129Asp (Ensembl:ENST00000456993) - c.387A>C (Ensembl:ENST00000456993) - p.Glu129Asp (Ensembl:ENST00000682748) - c.387A>C (Ensembl:ENST00000682748) - c.387A>T (Ensembl:ENST00000682748) - c.387A>T (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs1226932332 | 130 | G>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.95881210G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881210G>T Locations: - p.Gly130Ter (Ensembl:ENST00000456993) - c.388G>T (Ensembl:ENST00000456993) - p.Gly130Ter (Ensembl:ENST00000682748) - c.388G>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1266314193 | 131 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881214C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881214C>T Locations: - p.Thr131Ile (Ensembl:ENST00000456993) - c.392C>T (Ensembl:ENST00000456993) - p.Thr131Ile (Ensembl:ENST00000682748) - c.392C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
COSV56629308 rs1211849973 | 132 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.000004147 (gnomAD) Accession: NC_000009.12:g.95881217G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881217G>A Locations: - p.R132Q (NCI-TCGA:ENST00000456993) - p.Arg132Gln (Ensembl:ENST00000456993) - c.395G>A (Ensembl:ENST00000456993) - p.Arg132Gln (Ensembl:ENST00000682748) - c.395G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
RCV001906835 rs917357317 | 132 | R>W | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.95881216C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881216C>T Locations: - p.Arg132Trp (Ensembl:ENST00000456993) - c.394C>T (Ensembl:ENST00000456993) - p.Arg132Trp (Ensembl:ENST00000682748) - c.394C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
RCV001875722 rs1827574436 | 135 | Y>C | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.728) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.95881226A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881226A>G Locations: - p.Tyr135Cys (Ensembl:ENST00000682748) - c.404A>G (Ensembl:ENST00000682748) - p.Tyr135Cys (Ensembl:ENST00000456993) - c.404A>G (Ensembl:ENST00000456993) Source type: large scale study | |||||||
RCV000967135 RCV001819073 rs61740729 | 136 | G>E | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0.00619 (ClinVar) Accession: NC_000009.12:g.95881229G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881229G>A Locations: - p.Gly136Glu (Ensembl:ENST00000456993) - c.407G>A (Ensembl:ENST00000456993) - p.Gly136Glu (Ensembl:ENST00000682748) - c.407G>A (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs1427744857 | 137 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881231C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881231C>T Locations: - p.His137Tyr (Ensembl:ENST00000456993) - c.409C>T (Ensembl:ENST00000456993) - p.His137Tyr (Ensembl:ENST00000682748) - c.409C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs777667044 | 139 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000009.12:g.95881237A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881237A>G Locations: - p.Ile139Val (Ensembl:ENST00000456993) - c.415A>G (Ensembl:ENST00000456993) - p.Ile139Val (Ensembl:ENST00000682748) - c.415A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs749393023 | 140 | H>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.95881240C>G Codon: CAT/GAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881240C>G Locations: - p.His140Asp (Ensembl:ENST00000682748) - c.418C>G (Ensembl:ENST00000682748) - p.His140Asp (Ensembl:ENST00000456993) - c.418C>G (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs749393023 | 140 | H>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.95881240C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881240C>A Locations: - p.His140Asn (Ensembl:ENST00000682748) - c.418C>A (Ensembl:ENST00000682748) - p.His140Asn (Ensembl:ENST00000456993) - c.418C>A (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs368518723 | 140 | H>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000009.12:g.95881241A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881241A>G Locations: - p.His140Arg (Ensembl:ENST00000682748) - c.419A>G (Ensembl:ENST00000682748) - p.His140Arg (Ensembl:ENST00000456993) - c.419A>G (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs749393023 | 140 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881240C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881240C>T Locations: - p.His140Tyr (Ensembl:ENST00000456993) - c.418C>T (Ensembl:ENST00000456993) - p.His140Tyr (Ensembl:ENST00000682748) - c.418C>T (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs372469673 | 142 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.95881246G>A, NC_000009.12:g.95881246G>C Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881246G>A, NC_000009.12:g.95881246G>C Locations: - p.Gly142Arg (Ensembl:ENST00000682748) - c.424G>A (Ensembl:ENST00000682748) - p.Gly142Arg (Ensembl:ENST00000456993) - c.424G>A (Ensembl:ENST00000456993) - c.424G>C (Ensembl:ENST00000456993) - c.424G>C (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs1436466769 | 143 | G>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881249G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881249G>T Locations: - p.Gly143Trp (Ensembl:ENST00000456993) - c.427G>T (Ensembl:ENST00000456993) - p.Gly143Trp (Ensembl:ENST00000682748) - c.427G>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1587834767 | 144 | C>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881252T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881252T>G Locations: - p.Cys144Gly (Ensembl:ENST00000456993) - c.430T>G (Ensembl:ENST00000456993) - p.Cys144Gly (Ensembl:ENST00000682748) - c.430T>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1188825563 | 144 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881253G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881253G>A Locations: - p.Cys144Tyr (Ensembl:ENST00000456993) - c.431G>A (Ensembl:ENST00000456993) - p.Cys144Tyr (Ensembl:ENST00000682748) - c.431G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs560188182 | 145 | I>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.95881255A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881255A>G Locations: - p.Ile145Val (Ensembl:ENST00000456993) - c.433A>G (Ensembl:ENST00000456993) - p.Ile145Val (Ensembl:ENST00000682748) - c.433A>G (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs761045031 | 147 | G>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881261G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881261G>T Locations: - p.Gly147Cys (Ensembl:ENST00000682748) - c.439G>T (Ensembl:ENST00000682748) - p.Gly147Cys (Ensembl:ENST00000456993) - c.439G>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1313920772 | 147 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881262G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881262G>A Locations: - p.Gly147Asp (Ensembl:ENST00000456993) - c.440G>A (Ensembl:ENST00000456993) - p.Gly147Asp (Ensembl:ENST00000682748) - c.440G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs761045031 | 147 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881261G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881261G>A Locations: - p.Gly147Ser (Ensembl:ENST00000682748) - c.439G>A (Ensembl:ENST00000682748) - p.Gly147Ser (Ensembl:ENST00000456993) - c.439G>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
RCV001302292 rs1827577321 | 150 | M>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881271T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881271T>C Locations: - p.Met150Thr (Ensembl:ENST00000456993) - c.449T>C (Ensembl:ENST00000456993) - p.Met150Thr (Ensembl:ENST00000682748) - c.449T>C (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs1239762231 | 150 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881270A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881270A>G Locations: - p.Met150Val (Ensembl:ENST00000456993) - c.448A>G (Ensembl:ENST00000456993) - p.Met150Val (Ensembl:ENST00000682748) - c.448A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1564190148 | 151 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000004727 (gnomAD) Accession: NC_000009.12:g.95881273G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881273G>A Locations: - p.G151R (NCI-TCGA:ENST00000456993) - p.Gly151Arg (Ensembl:ENST00000682748) - c.451G>A (Ensembl:ENST00000682748) - p.Gly151Arg (Ensembl:ENST00000456993) - c.451G>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs764681006 | 151 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881274G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881274G>T Locations: - p.Gly151Val (Ensembl:ENST00000456993) - c.452G>T (Ensembl:ENST00000456993) - p.Gly151Val (Ensembl:ENST00000682748) - c.452G>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1231696615 | 153 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881280G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881280G>T Locations: - p.Gly153Val (Ensembl:ENST00000456993) - c.458G>T (Ensembl:ENST00000456993) - p.Gly153Val (Ensembl:ENST00000682748) - c.458G>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1827577946 | 155 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881286C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881286C>T Locations: - p.Thr155Ile (Ensembl:ENST00000456993) - c.464C>T (Ensembl:ENST00000456993) - p.Thr155Ile (Ensembl:ENST00000682748) - c.464C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1330002358 | 157 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95881293G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95881293G>C Locations: - p.Gln157His (Ensembl:ENST00000456993) - c.471G>C (Ensembl:ENST00000456993) - p.Gln157His (Ensembl:ENST00000682748) - c.471G>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1020500906 | 158 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897849G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897849G>T Locations: - p.Val158Phe (Ensembl:ENST00000682748) - c.472G>T (Ensembl:ENST00000682748) - p.Val158Phe (Ensembl:ENST00000456993) - c.472G>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1020500906 | 158 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.75) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897849G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897849G>C Locations: - p.Val158Leu (Ensembl:ENST00000682748) - c.472G>C (Ensembl:ENST00000682748) - p.Val158Leu (Ensembl:ENST00000456993) - c.472G>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1309721234 | 161 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.95897858T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897858T>C Locations: - p.Phe161Leu (Ensembl:ENST00000682748) - c.481T>C (Ensembl:ENST00000682748) - p.Phe161Leu (Ensembl:ENST00000456993) - c.481T>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1282254465 | 163 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.332) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897865C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897865C>T Locations: - p.Ala163Val (Ensembl:ENST00000682748) - c.488C>T (Ensembl:ENST00000682748) - p.Ala163Val (Ensembl:ENST00000456993) - c.488C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
RCV001997538 rs2132606990 | 165 | V>A | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95897871T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897871T>C Locations: - p.Val165Ala (Ensembl:ENST00000682748) - c.494T>C (Ensembl:ENST00000682748) - p.Val165Ala (Ensembl:ENST00000456993) - c.494T>C (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs746049395 | 165 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.95897870G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897870G>A Locations: - p.Val165Ile (Ensembl:ENST00000682748) - c.493G>A (Ensembl:ENST00000682748) - p.Val165Ile (Ensembl:ENST00000456993) - c.493G>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs200568420 | 167 | H>P | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897877A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897877A>C Locations: - p.His167Pro (Ensembl:ENST00000682748) - c.500A>C (Ensembl:ENST00000682748) - p.His167Pro (Ensembl:ENST00000456993) - c.500A>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1398369631 | 167 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.95897878T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897878T>A Locations: - p.His167Gln (Ensembl:ENST00000456993) - c.501T>A (Ensembl:ENST00000456993) - p.His167Gln (Ensembl:ENST00000682748) - c.501T>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs200568420 | 167 | H>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.95897877A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897877A>G Locations: - p.His167Arg (Ensembl:ENST00000682748) - c.500A>G (Ensembl:ENST00000682748) - p.His167Arg (Ensembl:ENST00000456993) - c.500A>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs772372184 | 167 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897876C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897876C>T Locations: - p.His167Tyr (Ensembl:ENST00000456993) - c.499C>T (Ensembl:ENST00000456993) - p.His167Tyr (Ensembl:ENST00000682748) - c.499C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs775665068 | 168 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897879A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897879A>G Locations: - p.Lys168Glu (Ensembl:ENST00000456993) - c.502A>G (Ensembl:ENST00000456993) - p.Lys168Glu (Ensembl:ENST00000682748) - c.502A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1186758650 | 169 | K>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.526) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897883A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897883A>T Locations: - p.Lys169Met (Ensembl:ENST00000456993) - c.506A>T (Ensembl:ENST00000456993) - p.Lys169Met (Ensembl:ENST00000682748) - c.506A>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1252029812 | 170 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.664) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95897885G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897885G>A Locations: - p.Gly170Arg (Ensembl:ENST00000456993) - c.508G>A (Ensembl:ENST00000456993) - p.Gly170Arg (Ensembl:ENST00000682748) - c.508G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1828551593 | 171 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897888A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897888A>G Locations: - p.Thr171Ala (Ensembl:ENST00000456993) - c.511A>G (Ensembl:ENST00000456993) - p.Thr171Ala (Ensembl:ENST00000682748) - c.511A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
RCV001925316 rs149385968 | 172 | R>C | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000009.12:g.95897891C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897891C>T Locations: - p.Arg172Cys (Ensembl:ENST00000682748) - c.514C>T (Ensembl:ENST00000682748) - p.Arg172Cys (Ensembl:ENST00000456993) - c.514C>T (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs755468545 | 172 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.95897892G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897892G>A Locations: - p.Arg172His (Ensembl:ENST00000456993) - c.515G>A (Ensembl:ENST00000456993) - p.Arg172His (Ensembl:ENST00000682748) - c.515G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1049704790 | 175 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897901T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897901T>C Locations: - p.Ile175Thr (Ensembl:ENST00000456993) - c.524T>C (Ensembl:ENST00000456993) - p.Ile175Thr (Ensembl:ENST00000682748) - c.524T>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
RCV002017362 rs2132607207 | 175 | I>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95897900A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897900A>G Locations: - p.Ile175Val (Ensembl:ENST00000682748) - c.523A>G (Ensembl:ENST00000682748) - p.Ile175Val (Ensembl:ENST00000456993) - c.523A>G (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs77857685 | 179 | M>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897912A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897912A>T Locations: - p.Met179Leu (Ensembl:ENST00000682748) - c.535A>T (Ensembl:ENST00000682748) - p.Met179Leu (Ensembl:ENST00000456993) - c.535A>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1564203163 | 180 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.143) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897916C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897916C>T Locations: - p.Pro180Leu (Ensembl:ENST00000456993) - c.539C>T (Ensembl:ENST00000456993) - p.Pro180Leu (Ensembl:ENST00000682748) - c.539C>T (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1201706554 | 186 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95897933A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897933A>G Locations: - p.Ser186Gly (Ensembl:ENST00000682748) - c.556A>G (Ensembl:ENST00000682748) - p.Ser186Gly (Ensembl:ENST00000456993) - c.556A>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs762364993 | 186 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000009.12:g.95897934G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897934G>A Locations: - p.Ser186Asn (Ensembl:ENST00000682748) - c.557G>A (Ensembl:ENST00000682748) - p.Ser186Asn (Ensembl:ENST00000456993) - c.557G>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1201706554 | 186 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.95897933A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897933A>C Locations: - p.Ser186Arg (Ensembl:ENST00000682748) - c.556A>C (Ensembl:ENST00000682748) - p.Ser186Arg (Ensembl:ENST00000456993) - c.556A>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs772747987 | 188 | K>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897940A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897940A>T Locations: - p.Lys188Ile (Ensembl:ENST00000682748) - c.563A>T (Ensembl:ENST00000682748) - p.Lys188Ile (Ensembl:ENST00000456993) - c.563A>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs762471695 | 189 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.95897944G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897944G>T Locations: - p.Lys189Asn (Ensembl:ENST00000682748) - c.567G>T (Ensembl:ENST00000682748) - p.Lys189Asn (Ensembl:ENST00000456993) - c.567G>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1189690341 | 190 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95897946A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897946A>T Locations: - p.Glu190Val (Ensembl:ENST00000682748) - c.569A>T (Ensembl:ENST00000682748) - p.Glu190Val (Ensembl:ENST00000456993) - c.569A>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1425555473 | 191 | P>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.543) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.95897949C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897949C>A Locations: - p.Pro191His (Ensembl:ENST00000456993) - c.572C>A (Ensembl:ENST00000456993) - p.Pro191His (Ensembl:ENST00000682748) - c.572C>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1828554479 | 191 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.95897948C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897948C>T Locations: - p.Pro191Ser (Ensembl:ENST00000682748) - c.571C>T (Ensembl:ENST00000682748) - p.Pro191Ser (Ensembl:ENST00000456993) - c.571C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1256783072 | 193 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.239) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000009.12:g.95897954T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897954T>C Locations: - p.Ser193Pro (Ensembl:ENST00000456993) - c.577T>C (Ensembl:ENST00000456993) - p.Ser193Pro (Ensembl:ENST00000682748) - c.577T>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
COSV56628714 rs751247643 | 193 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: tolerated - low confidence (0.72) Somatic: No Population frequencies: - MAF: 0.00001212 (gnomAD) Accession: NC_000009.12:g.95897955C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897955C>A Locations: - p.S193Y (NCI-TCGA:ENST00000456993) - p.Ser193Tyr (Ensembl:ENST00000456993) - c.578C>A (Ensembl:ENST00000456993) - p.Ser193Tyr (Ensembl:ENST00000682748) - c.578C>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1303388759 | 194 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000009.12:g.95897958C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897958C>G Locations: - p.Ser194Cys (Ensembl:ENST00000456993) - c.581C>G (Ensembl:ENST00000456993) - p.Ser194Cys (Ensembl:ENST00000682748) - c.581C>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1258809031 | 194 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.95897957T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897957T>C Locations: - p.Ser194Pro (Ensembl:ENST00000682748) - c.580T>C (Ensembl:ENST00000682748) - p.Ser194Pro (Ensembl:ENST00000456993) - c.580T>C (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1303388759 | 194 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.34) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000009.12:g.95897958C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897958C>A Locations: - p.Ser194Tyr (Ensembl:ENST00000456993) - c.581C>A (Ensembl:ENST00000456993) - p.Ser194Tyr (Ensembl:ENST00000682748) - c.581C>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1587863035 | 195 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000009.12:g.95897960A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897960A>G Locations: - p.Thr195Ala (Ensembl:ENST00000456993) - c.583A>G (Ensembl:ENST00000456993) - p.Thr195Ala (Ensembl:ENST00000682748) - c.583A>G (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs759371269 | 195 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000009.12:g.95897961C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897961C>T Locations: - p.Thr195Ile (Ensembl:ENST00000682748) - c.584C>T (Ensembl:ENST00000682748) - p.Thr195Ile (Ensembl:ENST00000456993) - c.584C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs374911552 | 196 | A>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000009.12:g.95897963G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95897963G>C Locations: - p.Ala196Pro (Ensembl:ENST00000456993) - c.586G>C (Ensembl:ENST00000456993) - p.Ala196Pro (Ensembl:ENST00000682748) - c.586G>C (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs181919944 | 200 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95915671G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95915671G>A Locations: - p.Gly200Arg (Ensembl:ENST00000456993) - c.598G>A (Ensembl:ENST00000456993) - p.Gly200Arg (Ensembl:ENST00000682748) - c.598G>A (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs1337089169 | 200 | G>V | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000008151 (gnomAD) Accession: NC_000009.12:g.95915672G>T Codon: GAA/TAA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95915672G>T Locations: - p.G200V (NCI-TCGA:ENST00000456993) - p.Gly200Val (Ensembl:ENST00000456993) - c.599G>T (Ensembl:ENST00000456993) - p.Gly200Val (Ensembl:ENST00000682748) - c.599G>T (Ensembl:ENST00000682748) Source type: large scale study | |||||||
rs1829549071 | 202 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95915678T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95915678T>C Locations: - p.Val202Ala (Ensembl:ENST00000456993) - c.605T>C (Ensembl:ENST00000456993) - p.Val202Ala (Ensembl:ENST00000682748) - c.605T>C (Ensembl:ENST00000682748) Source type: large scale study Cross-references: | |||||||
rs747882125 | 203 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95915680A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95915680A>G Locations: - p.Ser203Gly (Ensembl:ENST00000682748) - c.607A>G (Ensembl:ENST00000682748) - p.Ser203Gly (Ensembl:ENST00000456993) - c.607A>G (Ensembl:ENST00000456993) Source type: large scale study | |||||||
rs1272415536 | 205 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.6) Somatic: No Accession: NC_000009.12:g.95915686C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95915686C>T Locations: - p.His205Tyr (Ensembl:ENST00000682748) - c.613C>T (Ensembl:ENST00000682748) - p.His205Tyr (Ensembl:ENST00000456993) - c.613C>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1829549690 | 207 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95915692G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95915692G>A Locations: - p.Gly207Arg (Ensembl:ENST00000682748) - c.619G>A (Ensembl:ENST00000682748) - p.Gly207Arg (Ensembl:ENST00000456993) - c.619G>A (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs1486170285 | 207 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.95915693G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95915693G>T Locations: - p.Gly207Val (Ensembl:ENST00000682748) - c.620G>T (Ensembl:ENST00000682748) - p.Gly207Val (Ensembl:ENST00000456993) - c.620G>T (Ensembl:ENST00000456993) Source type: large scale study Cross-references: | |||||||
rs779295458 | 208 | *>W | ExAC gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000009.12:g.95915697A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 9q22.32 Genomic location: NC_000009.12:g.95915697A>G Locations: - p.Ter208TrpextTer3 (Ensembl:ENST00000682748) - c.624A>G (Ensembl:ENST00000682748) - p.Ter208TrpextTer3 (Ensembl:ENST00000456993) - c.624A>G (Ensembl:ENST00000456993) Source type: large scale study Cross-references: |