C9JJ23 · C9JJ23_HUMAN
- Protein6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
- GenePFKFB4
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids129 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs553252168 | 2 | R>K | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48559601C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559601C>T Locations: - p.Arg2Lys (Ensembl:ENST00000422701) - c.5G>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs2043401359 | 3 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48559598G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559598G>A Locations: - p.Ala3Val (Ensembl:ENST00000422701) - c.8C>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs534261906 | 4 | R>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48559595C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559595C>G Locations: - p.Arg4Thr (Ensembl:ENST00000422701) - c.11G>C (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs1304517337 | 5 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.48559591A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559591A>T Locations: - p.Asp5Glu (Ensembl:ENST00000422701) - c.15T>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1216682969 | 6 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.48559589G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559589G>A Locations: - p.Ser6Phe (Ensembl:ENST00000422701) - c.17C>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1373590887 | 7 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000003.12:g.48559586G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559586G>A Locations: - p.Thr7Ile (Ensembl:ENST00000422701) - c.20C>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1390675443 | 7 | T>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000003.12:g.48559587T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559587T>G Locations: - p.Thr7Pro (Ensembl:ENST00000422701) - c.19A>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1390675443 | 7 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.83) Somatic: No Accession: NC_000003.12:g.48559587T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559587T>A Locations: - p.Thr7Ser (Ensembl:ENST00000422701) - c.19A>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1364367030 | 8 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000003.12:g.48559583C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559583C>T Locations: - p.Gly8Glu (Ensembl:ENST00000422701) - c.23G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1402523114 | 8 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000003.12:g.48559584C>G, NC_000003.12:g.48559584C>T Codon: GGG/CGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559584C>G, NC_000003.12:g.48559584C>T Locations: - p.Gly8Arg (Ensembl:ENST00000422701) - c.22G>C (Ensembl:ENST00000422701) - c.22G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1274550120 | 9 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.48559580T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559580T>C Locations: - p.His9Arg (Ensembl:ENST00000422701) - c.26A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043400860 | 9 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000003.12:g.48559581G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559581G>A Locations: - p.His9Tyr (Ensembl:ENST00000422701) - c.25C>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs770272127 | 10 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48559577G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559577G>A Locations: - p.Pro10Leu (Ensembl:ENST00000422701) - c.29C>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs570723725 | 10 | P>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000003.12:g.48559578G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559578G>A Locations: - p.Pro10Ser (Ensembl:ENST00000422701) - c.28C>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs570723725 | 10 | P>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.48559578G>T Codon: CCG/ACG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559578G>T Locations: - p.Pro10Thr (Ensembl:ENST00000422701) - c.28C>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs552324830 | 11 | L>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000003.12:g.48559574A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559574A>T Locations: - p.Leu11Gln (Ensembl:ENST00000422701) - c.32T>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs552324830 | 11 | L>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.76) Somatic: No Accession: NC_000003.12:g.48559574A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559574A>C Locations: - p.Leu11Arg (Ensembl:ENST00000422701) - c.32T>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043400048 | 12 | M>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.48559572T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559572T>A Locations: - p.Met12Leu (Ensembl:ENST00000422701) - c.34A>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1269623611 | 14 | R>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.48559566T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559566T>A Locations: - p.Arg14Ter (Ensembl:ENST00000422701) - c.40A>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1224818837 | 14 | R>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.48559565C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559565C>A Locations: - p.Arg14Ile (Ensembl:ENST00000422701) - c.41G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1224818837 | 14 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000003.12:g.48559565C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559565C>T Locations: - p.Arg14Lys (Ensembl:ENST00000422701) - c.41G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1258952587 | 16 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.48559558C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559558C>G Locations: - p.Gln16His (Ensembl:ENST00000422701) - c.48G>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043399839 | 16 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.62) Somatic: No Accession: NC_000003.12:g.48559559T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559559T>C Locations: - p.Gln16Arg (Ensembl:ENST00000422701) - c.47A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1317339678 | 17 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000003.12:g.48559556G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559556G>A Locations: - p.Thr17Met (Ensembl:ENST00000422701) - c.50C>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1039534077 | 17 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.57) Somatic: No Accession: NC_000003.12:g.48559557T>A Codon: ACG/TCG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559557T>A Locations: - p.Thr17Ser (Ensembl:ENST00000422701) - c.49A>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1420517956 | 18 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000003.12:g.48559553A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559553A>G Locations: - p.Leu18Pro (Ensembl:ENST00000422701) - c.53T>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs956855512 | 19 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000003.12:g.48559551C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559551C>T Locations: - p.Gly19Arg (Ensembl:ENST00000422701) - c.55G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs145177118 | 20 | Q>* | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.48559548G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559548G>A Locations: - p.Gln20Ter (Ensembl:ENST00000422701) - c.58C>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043399437 | 21 | H>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000003.12:g.48559544T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559544T>A Locations: - p.His21Leu (Ensembl:ENST00000422701) - c.62A>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1283358911 | 22 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.48559542G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559542G>T Locations: - p.Leu22Ile (Ensembl:ENST00000422701) - c.64C>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1320549625 | 23 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000003.12:g.48559538T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559538T>C Locations: - p.His23Arg (Ensembl:ENST00000422701) - c.68A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043399291 | 25 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000003.12:g.48559532T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559532T>C Locations: - p.Glu25Gly (Ensembl:ENST00000422701) - c.74A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1433357117 | 26 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000003.12:g.48559529T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559529T>C Locations: - p.Asp26Gly (Ensembl:ENST00000422701) - c.77A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043399177 | 26 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000003.12:g.48559530C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559530C>T Locations: - p.Asp26Asn (Ensembl:ENST00000422701) - c.76G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs570164703 | 28 | G>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.48559523C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559523C>T Locations: - p.Gly28Glu (Ensembl:ENST00000422701) - c.83G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs905467325 | 28 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48559524C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559524C>T Locations: - p.Gly28Arg (Ensembl:ENST00000422701) - c.82G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs905467325 | 28 | G>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48559524C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559524C>A Locations: - p.Gly28Trp (Ensembl:ENST00000422701) - c.82G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs548382347 | 29 | E>* | 1000Genomes TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.48559521C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559521C>A Locations: - p.Glu29Ter (Ensembl:ENST00000422701) - c.85G>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs1454791291 | 29 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.48559519C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559519C>G Locations: - p.Glu29Asp (Ensembl:ENST00000422701) - c.87G>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs548382347 | 29 | E>K | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.48559521C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559521C>T Locations: - p.Glu29Lys (Ensembl:ENST00000422701) - c.85G>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs548382347 | 29 | E>Q | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000003.12:g.48559521C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559521C>G Locations: - p.Glu29Gln (Ensembl:ENST00000422701) - c.85G>C (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs1575409742 | 30 | W>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.73) Somatic: No Accession: NC_000003.12:g.48559518A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559518A>C Locations: - p.Trp30Gly (Ensembl:ENST00000422701) - c.88T>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043398814 | 31 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.81) Somatic: No Accession: NC_000003.12:g.48559515C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559515C>T Locations: - p.Glu31Lys (Ensembl:ENST00000422701) - c.91G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs753347393 | 33 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.48559508G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559508G>A Locations: - p.Thr33Ile (Ensembl:ENST00000422701) - c.98C>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs2043398683 | 34 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.48559506A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559506A>G Locations: - p.Cys34Arg (Ensembl:ENST00000422701) - c.100T>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs763655732 | 35 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000003.12:g.48559501T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559501T>G Locations: - p.Glu35Asp (Ensembl:ENST00000422701) - c.105A>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1480192983 | 36 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.48559500C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48559500C>T Locations: - p.Val36Met (Ensembl:ENST00000422701) - c.106G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
COSV51680738 rs1391291661 | 38 | M>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000003.12:g.48550229T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550229T>G Locations: - p.M38L (NCI-TCGA:ENST00000422701) - p.Met38Leu (Ensembl:ENST00000422701) - c.112A>C (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs1391291661 | 38 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.48550229T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550229T>C Locations: - p.Met38Val (Ensembl:ENST00000422701) - c.112A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs374222865 | 40 | N>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550223T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550223T>G Locations: - p.Asn40His (Ensembl:ENST00000422701) - c.118A>C (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs1312585178 | 40 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550222T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550222T>C Locations: - p.Asn40Ser (Ensembl:ENST00000422701) - c.119A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1242859288 | 42 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550216G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550216G>A Locations: - p.Pro42Leu (Ensembl:ENST00000422701) - c.125C>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs780164866 | 42 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550217G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550217G>T Locations: - p.Pro42Thr (Ensembl:ENST00000422701) - c.124C>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs758214576 | 44 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550211G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550211G>A Locations: - p.Leu44Phe (Ensembl:ENST00000422701) - c.130C>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs758214576 | 44 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.873) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.48550211G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550211G>C Locations: - p.Leu44Val (Ensembl:ENST00000422701) - c.130C>G (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs150533667 | 47 | M>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.57) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.48550200C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550200C>A Locations: - p.Met47Ile (Ensembl:ENST00000422701) - c.141G>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs146129105 | 47 | M>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: NC_000003.12:g.48550201A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550201A>G Locations: - p.Met47Thr (Ensembl:ENST00000422701) - c.140T>C (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs757553047 | 48 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550199C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550199C>T Locations: - p.Val48Met (Ensembl:ENST00000422701) - c.142G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1483448377 | 49 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550196C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550196C>A Locations: - p.Gly49Cys (Ensembl:ENST00000422701) - c.145G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
COSV99219965 rs1276887975 | 49 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000003.12:g.48550195C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550195C>T Locations: - p.G49D (NCI-TCGA:ENST00000422701) - p.Gly49Asp (Ensembl:ENST00000422701) - c.146G>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs372258983 | 52 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550187C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550187C>A Locations: - p.Ala52Ser (Ensembl:ENST00000422701) - c.154G>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs372258983 | 52 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.729) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550187C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550187C>T Locations: - p.Ala52Thr (Ensembl:ENST00000422701) - c.154G>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs764198402 | 53 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550182C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550182C>A Locations: - p.Arg53Ser (Ensembl:ENST00000422701) - c.159G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs760774056 | 54 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550180C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550180C>G Locations: - p.Gly54Ala (Ensembl:ENST00000422701) - c.161G>C (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs760774056 | 54 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550180C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550180C>T Locations: - p.Gly54Asp (Ensembl:ENST00000422701) - c.161G>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs760774056 | 54 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550180C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550180C>A Locations: - p.Gly54Val (Ensembl:ENST00000422701) - c.161G>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs1380856317 | 55 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550178T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550178T>C Locations: - p.Lys55Glu (Ensembl:ENST00000422701) - c.163A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043093269 | 56 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550174G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550174G>C Locations: - p.Thr56Ser (Ensembl:ENST00000422701) - c.167C>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1316901404 | 62 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550157G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550157G>C Locations: - p.Leu62Val (Ensembl:ENST00000422701) - c.184C>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs536710659 | 63 | T>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550154T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550154T>C Locations: - p.Thr63Ala (Ensembl:ENST00000422701) - c.187A>G (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs759958236 | 64 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.48550151G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550151G>A Locations: - p.Arg64Ter (Ensembl:ENST00000422701) - c.190C>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs147977517 | 64 | R>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550150C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550150C>G Locations: - p.Arg64Pro (Ensembl:ENST00000422701) - c.191G>C (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs1423218886 | 65 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.48550147dup Codon: TAC/TAAC Consequence type: stop gained Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550147dup Locations: - p.Tyr65Ter (Ensembl:ENST00000422701) - c.194dup (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1224799964 | 68 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550137C>G Codon: TGG/TGC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550137C>G Locations: - p.Trp68Cys (Ensembl:ENST00000422701) - c.204G>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043092227 | 70 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550132C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550132C>A Locations: - p.Gly70Val (Ensembl:ENST00000422701) - c.209G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043092111 | 71 | V>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550129A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550129A>T Locations: - p.Val71Glu (Ensembl:ENST00000422701) - c.212T>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs771177958 | 72 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550126G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550126G>T Locations: - p.Pro72His (Ensembl:ENST00000422701) - c.215C>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
COSV107226677 rs771177958 | 72 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000003.12:g.48550126G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550126G>A Locations: - p.Pro72Leu (Ensembl:ENST00000422701) - c.215C>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1560177640 | 73 | T>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48550123G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550123G>T Locations: - p.Thr73Asn (Ensembl:ENST00000422701) - c.218C>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs776458096 | 74 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000007955 (gnomAD) Accession: NC_000003.12:g.48550120C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550120C>T Locations: - p.R74Q (NCI-TCGA:ENST00000422701) - p.Arg74Gln (Ensembl:ENST00000422701) - c.221G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
COSV99219404 rs761570064 | 74 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000003.12:g.48550121G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48550121G>A Locations: - p.R74W (NCI-TCGA:ENST00000422701) - p.Arg74Trp (Ensembl:ENST00000422701) - c.220C>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs760450389 | 75 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.48549960T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549960T>G Locations: - p.Glu75Ala (Ensembl:ENST00000422701) - c.224A>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs760450389 | 75 | E>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.48549960T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549960T>A Locations: - p.Glu75Val (Ensembl:ENST00000422701) - c.224A>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1343855114 | 77 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549955T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549955T>C Locations: - p.Asn77Asp (Ensembl:ENST00000422701) - c.229A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1256065719 | 77 | N>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549954T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549954T>C Locations: - p.Asn77Ser (Ensembl:ENST00000422701) - c.230A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043082207 | 78 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549951A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549951A>G Locations: - p.Val78Ala (Ensembl:ENST00000422701) - c.233T>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
COSV51680968 rs1560177249 | 82 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000003.12:g.48549940G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549940G>A Locations: - p.R82C (NCI-TCGA:ENST00000422701) - p.Arg82Cys (Ensembl:ENST00000422701) - c.244C>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs758988856 | 82 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549939C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549939C>T Locations: - p.Arg82His (Ensembl:ENST00000422701) - c.245G>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs1335156706 | 83 | R>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549936C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549936C>G Locations: - p.Arg83Pro (Ensembl:ENST00000422701) - c.248G>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
COSV51680113 COSV99219681 rs1335156706 | 83 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000003.12:g.48549936C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549936C>T Locations: - p.R83Q (NCI-TCGA:ENST00000422701) - p.Arg83Gln (Ensembl:ENST00000422701) - c.248G>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
COSV51682889 rs201114950 | 83 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002784 (gnomAD) Accession: NC_000003.12:g.48549937G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549937G>A Locations: - p.R83W (NCI-TCGA:ENST00000422701) - p.Arg83Trp (Ensembl:ENST00000422701) - c.247C>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs749211693 | 85 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.93) Somatic: No Accession: NC_000003.12:g.48549931C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549931C>G Locations: - p.Val85Leu (Ensembl:ENST00000422701) - c.253G>C (Ensembl:ENST00000422701) Source type: large scale study | |||||||
COSV105082148 rs749211693 | 85 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000003.12:g.48549931C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549931C>T Locations: - p.V85M (NCI-TCGA:ENST00000422701) - p.Val85Met (Ensembl:ENST00000422701) - c.253G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs143428445 | 86 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000003.12:g.48549928C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549928C>G Locations: - p.Val86Leu (Ensembl:ENST00000422701) - c.256G>C (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs1179620862 | 89 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549918T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549918T>C Locations: - p.Tyr89Cys (Ensembl:ENST00000422701) - c.266A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs747899976 | 91 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549912G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549912G>C Locations: - p.Ser91Cys (Ensembl:ENST00000422701) - c.272C>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043080156 | 93 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.48549907C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549907C>A Locations: - p.Glu93Ter (Ensembl:ENST00000422701) - c.277G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs781294678 | 94 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549903A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549903A>C Locations: - p.Phe94Cys (Ensembl:ENST00000422701) - c.281T>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1191878614 | 95 | F>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549900A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549900A>T Locations: - p.Phe95Tyr (Ensembl:ENST00000422701) - c.284T>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs569405949 | 98 | D>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549892C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549892C>G Locations: - p.Asp98His (Ensembl:ENST00000422701) - c.292G>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
COSV51681763 rs569405949 | 98 | D>N | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000003.12:g.48549892C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549892C>T Locations: - p.Asp98Asn (Ensembl:ENST00000422701) - c.292G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1560177096 | 98 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549891T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549891T>A Locations: - p.Asp98Val (Ensembl:ENST00000422701) - c.293A>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043079260 | 99 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549889T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549889T>C Locations: - p.Asn99Asp (Ensembl:ENST00000422701) - c.295A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1201640049 | 99 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549888T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549888T>C Locations: - p.Asn99Ser (Ensembl:ENST00000422701) - c.296A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1479347851 | 100 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.48549886C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549886C>A Locations: - p.Glu100Ter (Ensembl:ENST00000422701) - c.298G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2043078973 | 101 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549881C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549881C>G Locations: - p.Glu101Asp (Ensembl:ENST00000422701) - c.303G>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs770981607 | 102 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.48549879C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549879C>G Locations: - p.Gly102Ala (Ensembl:ENST00000422701) - c.305G>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1273314087 | 102 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549880C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549880C>T Locations: - p.Gly102Ser (Ensembl:ENST00000422701) - c.304G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1344941561 | 106 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48549868T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549868T>C Locations: - p.Arg106Gly (Ensembl:ENST00000422701) - c.316A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2042868588 | 107 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543646C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543646C>A Locations: - p.Lys107Asn (Ensembl:ENST00000422701) - c.321G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1020785000 | 107 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000003.12:g.48549864T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48549864T>C Locations: - p.Lys107Arg (Ensembl:ENST00000422701) - c.320A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1049577424 | 108 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.48543645G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543645G>A Locations: - p.Gln108Ter (Ensembl:ENST00000422701) - c.322C>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1349631795 | 109 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543641C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543641C>T Locations: - p.Cys109Tyr (Ensembl:ENST00000422701) - c.326G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2042868056 | 110 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543639C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543639C>A Locations: - p.Ala110Ser (Ensembl:ENST00000422701) - c.328G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2042868056 | 110 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543639C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543639C>T Locations: - p.Ala110Thr (Ensembl:ENST00000422701) - c.328G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs947230350 | 110 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543638G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543638G>A Locations: - p.Ala110Val (Ensembl:ENST00000422701) - c.329C>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1328721965 | 112 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000003.12:g.48543633C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543633C>T Locations: - p.Ala112Thr (Ensembl:ENST00000422701) - c.334G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1269050279 | 112 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.48543632G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543632G>A Locations: - p.Ala112Val (Ensembl:ENST00000422701) - c.335C>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1273288705 | 114 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543627G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543627G>A Locations: - p.Leu114Phe (Ensembl:ENST00000422701) - c.340C>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs368835932 | 115 | R>C | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000003.12:g.48543624G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543624G>A Locations: - p.Arg115Cys (Ensembl:ENST00000422701) - c.343C>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
COSV99220091 rs147704999 | 115 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.768) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000003.12:g.48543623C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543623C>T Locations: - p.R115H (NCI-TCGA:ENST00000422701) - p.Arg115His (Ensembl:ENST00000422701) - c.344G>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs147704999 | 115 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.48543623C>A Codon: CGT/CTT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543623C>A Locations: - p.Arg115Leu (Ensembl:ENST00000422701) - c.344G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs776351200 | 117 | V>F | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543618C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543618C>A Locations: - p.Val117Phe (Ensembl:ENST00000422701) - c.349G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
COSV51679733 rs776351200 | 117 | V>I | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.498) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000003.12:g.48543618C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543618C>T Locations: - p.Val117Ile (Ensembl:ENST00000422701) - c.349G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
COSV51681436 rs375537794 | 118 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.53) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Population frequencies: - MAF: 0.00006093 (gnomAD) Accession: NC_000003.12:g.48543614C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543614C>T Locations: - p.R118Q (NCI-TCGA:ENST00000422701) - p.Arg118Gln (Ensembl:ENST00000422701) - c.353G>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs768472833 | 118 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543615G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543615G>A Locations: - p.Arg118Trp (Ensembl:ENST00000422701) - c.352C>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs745957312 | 119 | R>Q | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000003.12:g.48543611C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543611C>T Locations: - p.Arg119Gln (Ensembl:ENST00000422701) - c.356G>A (Ensembl:ENST00000422701) Source type: large scale study | |||||||
COSV99219924 rs140464894 | 119 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.82) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00003246 (gnomAD) Accession: NC_000003.12:g.48543612G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543612G>A Locations: - p.R119W (NCI-TCGA:ENST00000422701) - p.Arg119Trp (Ensembl:ENST00000422701) - c.355C>T (Ensembl:ENST00000422701) Source type: large scale study | |||||||
rs779067127 | 120 | F>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.43) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543609A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543609A>C Locations: - p.Phe120Val (Ensembl:ENST00000422701) - c.358T>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1300463585 | 122 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000003.12:g.48543603T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543603T>C Locations: - p.Ser122Gly (Ensembl:ENST00000422701) - c.364A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs771632526 | 122 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543602C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543602C>T Locations: - p.Ser122Asn (Ensembl:ENST00000422701) - c.365G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1249014311 | 122 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.48543601A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543601A>C Locations: - p.Ser122Arg (Ensembl:ENST00000422701) - c.366T>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2042865087 | 123 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.333) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543599T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543599T>C Locations: - p.Glu123Gly (Ensembl:ENST00000422701) - c.368A>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1464694976 | 124 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000003.12:g.48543595C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543595C>A Locations: - p.Glu124Asp (Ensembl:ENST00000422701) - c.372G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1249056527 | 125 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.333) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543593C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543593C>G Locations: - p.Gly125Ala (Ensembl:ENST00000422701) - c.374G>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1249056527 | 125 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000003.12:g.48543593C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543593C>T Locations: - p.Gly125Glu (Ensembl:ENST00000422701) - c.374G>A (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs1301741570 | 125 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000003.12:g.48543594C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543594C>G Locations: - p.Gly125Arg (Ensembl:ENST00000422701) - c.373G>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs970291168 | 126 | G>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000003.12:g.48543591C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543591C>A Locations: - p.Gly126Ter (Ensembl:ENST00000422701) - c.376G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs759005458 | 126 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543590C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543590C>G Locations: - p.Gly126Ala (Ensembl:ENST00000422701) - c.377G>C (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs759005458 | 126 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543590C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543590C>A Locations: - p.Gly126Val (Ensembl:ENST00000422701) - c.377G>T (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs2042863710 | 127 | H>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543588G>C Codon: CAT/GAT Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543588G>C Locations: - p.His127Asp (Ensembl:ENST00000422701) - c.379C>G (Ensembl:ENST00000422701) Source type: large scale study Cross-references: | |||||||
rs756534987 | 129 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.498) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000003.12:g.48543581G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 3p21.31 Genomic location: NC_000003.12:g.48543581G>A Locations: - p.Ala129Val (Ensembl:ENST00000422701) - c.386C>T (Ensembl:ENST00000422701) Source type: large scale study |