O76031 · CLPX_HUMAN
- ProteinATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial
- GeneCLPX
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids633 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1023923088 | 2 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000015.10:g.65185150G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185150G>C Locations: - p.Pro2Ala (Ensembl:ENST00000300107) - c.4C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088241801 | 2 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.65185149G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185149G>T Locations: - p.Pro2His (Ensembl:ENST00000300107) - c.5C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1023923088 | 2 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000015.10:g.65185150G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185150G>T Locations: - p.Pro2Thr (Ensembl:ENST00000300107) - c.4C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088241722 | 3 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: tolerated - low confidence (0.61) Somatic: No Accession: NC_000015.10:g.65185147T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185147T>C Locations: - p.Ser3Gly (Ensembl:ENST00000300107) - c.7A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs756324576 | 3 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000015.10:g.65185145G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185145G>T Locations: - p.Ser3Arg (Ensembl:ENST00000300107) - c.9C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs777474778 | 3 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000015.10:g.65185146C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185146C>G Locations: - p.Ser3Thr (Ensembl:ENST00000300107) - c.8G>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs752997643 | 4 | C>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.65185142G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185142G>C Locations: - p.Cys4Trp (Ensembl:ENST00000300107) - c.12C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1210338162 | 4 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.394) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.65185143C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185143C>T Locations: - p.Cys4Tyr (Ensembl:ENST00000300107) - c.11G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1282507354 | 5 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000015.10:g.65185141C>G Codon: GGT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185141C>G Locations: - p.Gly5Arg (Ensembl:ENST00000300107) - c.13G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1234286522 | 5 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000015.10:g.65185140C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185140C>A Locations: - p.Gly5Val (Ensembl:ENST00000300107) - c.14G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1307107819 | 6 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.65185138C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185138C>T Locations: - p.Ala6Thr (Ensembl:ENST00000300107) - c.16G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088241292 | 7 | C>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.65185135A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185135A>C Locations: - p.Cys7Gly (Ensembl:ENST00000300107) - c.19T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs751757923 | 8 | T>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.25) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000015.10:g.65185132T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185132T>C Locations: - p.Thr8Ala (Ensembl:ENST00000300107) - c.22A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
COSV55646299 | 8 | T>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated - low confidence (0.13) Somatic: Yes Accession: NC_000015.10:g.65185131G>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185131G>T Locations: - c.23C>A (NCI-TCGA:ENST00000300107) - p.T8N (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1341131384 | 8 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000015.10:g.65185131G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185131G>C Locations: - p.Thr8Ser (Ensembl:ENST00000300107) - c.23C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs751757923 | 8 | T>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.35) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000015.10:g.65185132T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185132T>A Locations: - p.Thr8Ser (Ensembl:ENST00000300107) - c.22A>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs766900625 | 9 | C>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65185127G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185127G>T Locations: - p.Cys9Ter (Ensembl:ENST00000300107) - c.27C>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1312204551 | 9 | C>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000015.10:g.65185129A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185129A>C Locations: - p.Cys9Gly (Ensembl:ENST00000300107) - c.25T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs766900625 | 9 | C>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.65185127G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185127G>C Locations: - p.Cys9Trp (Ensembl:ENST00000300107) - c.27C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2088241119 | 9 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.65185128C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185128C>T Locations: - p.Cys9Tyr (Ensembl:ENST00000300107) - c.26G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs376695837 | 10 | G>R | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000015.10:g.65185126C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185126C>G Locations: - p.Gly10Arg (Ensembl:ENST00000300107) - c.28G>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs376695837 | 10 | G>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.67) Somatic: No Accession: NC_000015.10:g.65185126C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185126C>T Locations: - p.Gly10Ser (Ensembl:ENST00000300107) - c.28G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1302877343 | 10 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000015.10:g.65185125C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185125C>A Locations: - p.Gly10Val (Ensembl:ENST00000300107) - c.29G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs773595532 | 11 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000015.10:g.65185123C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185123C>A Locations: - p.Ala11Ser (Ensembl:ENST00000300107) - c.31G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs145279555 | 11 | A>V | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000015.10:g.65185122G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185122G>A Locations: - p.Ala11Val (Ensembl:ENST00000300107) - c.32C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs771502289 | 12 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000015.10:g.65185120C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185120C>A Locations: - p.Ala12Ser (Ensembl:ENST00000300107) - c.34G>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs771502289 | 12 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000015.10:g.65185120C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185120C>T Locations: - p.Ala12Thr (Ensembl:ENST00000300107) - c.34G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs773791111 | 13 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.65185116G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185116G>C Locations: - p.Ala13Gly (Ensembl:ENST00000300107) - c.38C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs745375531 | 13 | A>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000015.10:g.65185117C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185117C>A Locations: - p.Ala13Ser (Ensembl:ENST00000300107) - c.37G>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs745375531 | 13 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000015.10:g.65185117C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185117C>T Locations: - p.Ala13Thr (Ensembl:ENST00000300107) - c.37G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs773791111 | 13 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000015.10:g.65185116G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185116G>A Locations: - p.Ala13Val (Ensembl:ENST00000300107) - c.38C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs150007907 | 14 | V>A | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.81) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000015.10:g.65185113A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185113A>G Locations: - p.Val14Ala (Ensembl:ENST00000300107) - c.41T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs150007907 | 14 | V>D | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000015.10:g.65185113A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185113A>T Locations: - p.Val14Asp (Ensembl:ENST00000300107) - c.41T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs749219616 | 14 | V>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000015.10:g.65185114C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185114C>A Locations: - p.Val14Phe (Ensembl:ENST00000300107) - c.40G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs150007907 | 14 | V>G | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.2) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000015.10:g.65185113A>C Codon: GTC/GGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185113A>C Locations: - p.Val14Gly (Ensembl:ENST00000300107) - c.41T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1292393786 | 15 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000015.10:g.65185110C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185110C>T Locations: - p.Arg15Gln (Ensembl:ENST00000300107) - c.44G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs751640296 | 15 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.642) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000015.10:g.65185111G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185111G>A Locations: - p.Arg15Trp (Ensembl:ENST00000300107) - c.43C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1323049446 | 16 | L>I | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000015.10:g.65185108G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185108G>T Locations: - p.Leu16Ile (Ensembl:ENST00000300107) - c.46C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs758899327 | 16 | L>R | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.65185107A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185107A>C Locations: - p.Leu16Arg (Ensembl:ENST00000300107) - c.47T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1323049446 | 16 | L>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000015.10:g.65185108G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185108G>C Locations: - p.Leu16Val (Ensembl:ENST00000300107) - c.46C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088239911 | 17 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000015.10:g.65185104A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185104A>C Locations: - p.Ile17Ser (Ensembl:ENST00000300107) - c.50T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1221619943 | 18 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000015.10:g.65185101G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185101G>A Locations: - p.Thr18Ile (Ensembl:ENST00000300107) - c.53C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1595950800 | 18 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000015.10:g.65185102T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185102T>G Locations: - p.Thr18Pro (Ensembl:ENST00000300107) - c.52A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs765582146 | 19 | S>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000015.10:g.65185099A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185099A>C Locations: - p.Ser19Ala (Ensembl:ENST00000300107) - c.55T>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
RCV002211945 rs150826031 | 19 | S>F | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) - MAF: 0.000392465 (1000Genomes) Accession: NC_000015.10:g.65185098G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185098G>A Locations: - p.Ser19Phe (Ensembl:ENST00000300107) - c.56C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1164624805 | 21 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000015.10:g.65185093G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185093G>C Locations: - p.Leu21Val (Ensembl:ENST00000300107) - c.61C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1474543424 | 22 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000015.10:g.65185089G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185089G>A Locations: - p.Ala22Val (Ensembl:ENST00000300107) - c.65C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1188416478 | 23 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.53) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000015.10:g.65185086G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185086G>C Locations: - p.Ser23Cys (Ensembl:ENST00000300107) - c.68C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1418582889 | 24 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000015.10:g.65185083G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185083G>A Locations: - p.Ala24Val (Ensembl:ENST00000300107) - c.71C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269423 | 26 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious - low confidence (0.05) Somatic: Yes Accession: NC_000015.10:g.65185077C>G Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65185077C>G Locations: - c.77G>C (NCI-TCGA:ENST00000300107) - p.R26T (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1383409924 | 30 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000015.10:g.65180195C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180195C>A Locations: - p.Gly30Val (Ensembl:ENST00000300107) - c.89G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs756445675 | 31 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.272) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000015.10:g.65180192C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180192C>A Locations: - p.Gly31Val (Ensembl:ENST00000300107) - c.92G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088146775 | 32 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000015.10:g.65180190G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180190G>C Locations: - p.Arg32Gly (Ensembl:ENST00000300107) - c.94C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs142954778 | 32 | R>H | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000015.10:g.65180189C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180189C>T Locations: - p.Arg32His (Ensembl:ENST00000300107) - c.95G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
RCV002118059 rs142954778 | 32 | R>P | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) - MAF: 0.000392465 (1000Genomes) Accession: NC_000015.10:g.65180189C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180189C>G Locations: - p.Arg32Pro (Ensembl:ENST00000300107) - c.95G>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
TCGA novel | 32 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.65180190G>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180190G>T Locations: - c.94C>A (NCI-TCGA:ENST00000300107) - p.R32S (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs765936633 | 34 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000015.10:g.65180183T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180183T>C Locations: - p.His34Arg (Ensembl:ENST00000300107) - c.101A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs926487775 | 35 | M>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000015.10:g.65180181T>G, NC_000015.10:g.65180181T>A Codon: ATG/CTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180181T>G, NC_000015.10:g.65180181T>A Locations: - p.Met35Leu (Ensembl:ENST00000300107) - c.103A>C (Ensembl:ENST00000300107) - c.103A>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269565 | 36 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: Yes Accession: NC_000015.10:g.65180178A>G Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180178A>G Locations: - c.106T>C (NCI-TCGA:ENST00000300107) - p.S36P (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088146439 | 37 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000015.10:g.65180175C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180175C>T Locations: - p.Val37Ile (Ensembl:ENST00000300107) - c.109G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1172019738 | 40 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.65180166T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180166T>C Locations: - p.Arg40Gly (Ensembl:ENST00000300107) - c.118A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs777382462 | 40 | R>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000015.10:g.65180164C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180164C>A Locations: - p.Arg40Ser (Ensembl:ENST00000300107) - c.120G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs762718099 | 41 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated - low confidence (0.7) Somatic: No Accession: NC_000015.10:g.65180163G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180163G>A Locations: - p.Leu41Phe (Ensembl:ENST00000300107) - c.121C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269503 COSV100269716 rs780719008 | 42 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated - low confidence (0.12) - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00004813 (gnomAD) Accession: NC_000015.10:g.65180160C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180160C>T Locations: - p.G42R (NCI-TCGA:ENST00000300107) - p.Gly42Arg (Ensembl:ENST00000300107) - c.124G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
COSV100269493 | 42 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.448) - SIFT: tolerated - low confidence (0.05) Somatic: Yes Accession: NC_000015.10:g.65180159C>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180159C>A Locations: - c.125G>T (NCI-TCGA:ENST00000300107) - p.G42V (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269503 COSV100269716 | 42 | G>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.87) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.65180160C>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180160C>A Locations: - c.124G>T (NCI-TCGA:ENST00000300107) - p.G42W (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs764875353 | 43 | T>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000015.10:g.65180156G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180156G>A Locations: - p.Thr43Ile (Ensembl:ENST00000300107) - c.128C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs764875353 | 43 | T>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000015.10:g.65180156G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180156G>T Locations: - p.Thr43Lys (Ensembl:ENST00000300107) - c.128C>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1397565535 | 44 | F>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000015.10:g.65180153A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180153A>T Locations: - p.Phe44Tyr (Ensembl:ENST00000300107) - c.131T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55647152 | 45 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000015.10:g.65180151C>A Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180151C>A Locations: - c.133G>T (NCI-TCGA:ENST00000300107) - p.E45* (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088145881 | 46 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.52) Somatic: No Accession: NC_000015.10:g.65180148T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180148T>C Locations: - p.Thr46Ala (Ensembl:ENST00000300107) - c.136A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
RCV002143932 RCV003951254 rs146367761 | 46 | T>I | CLPX-related disorder (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.09) Somatic: No Population frequencies: - MAF: 0.0016 (ClinVar) - MAF: 0.00156986 (1000Genomes) Accession: NC_000015.10:g.65180147G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180147G>A Locations: - p.Thr46Ile (Ensembl:ENST00000300107) - c.137C>T (Ensembl:ENST00000300107) Disease association: - CLPX-related disorder Source type: large scale study | |||||||
rs372624454 | 47 | Q>E | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000015.10:g.65180145G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180145G>C Locations: - p.Gln47Glu (Ensembl:ENST00000300107) - c.139C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs760385301 | 47 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.96) Somatic: No Accession: NC_000015.10:g.65180143C>G, NC_000015.10:g.65180143C>A Codon: CAG/CAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180143C>G, NC_000015.10:g.65180143C>A Locations: - p.Gln47His (Ensembl:ENST00000300107) - c.141G>C (Ensembl:ENST00000300107) - c.141G>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1306311051 | 47 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.72) Somatic: No Accession: NC_000015.10:g.65180144T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180144T>C Locations: - p.Gln47Arg (Ensembl:ENST00000300107) - c.140A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs775411036 | 48 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000015.10:g.65180142T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180142T>G Locations: - p.Ile48Leu (Ensembl:ENST00000300107) - c.142A>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1220629721 | 48 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.65180140A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180140A>C Locations: - p.Ile48Met (Ensembl:ENST00000300107) - c.144T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs775411036 | 48 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000015.10:g.65180142T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180142T>C Locations: - p.Ile48Val (Ensembl:ENST00000300107) - c.142A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs746142076 | 49 | L>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000015.10:g.65180138A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180138A>C Locations: - p.Leu49Arg (Ensembl:ENST00000300107) - c.146T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs772160949 | 49 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000015.10:g.65180139G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180139G>C Locations: - p.Leu49Val (Ensembl:ENST00000300107) - c.145C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2140650539 | 50 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000015.10:g.65180135T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180135T>C Locations: - p.Gln50Arg (Ensembl:ENST00000300107) - c.149A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs951204041 | 51 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000015.10:g.65180131T>G Codon: AGA/AGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180131T>G Locations: - p.Arg51Ser (Ensembl:ENST00000300107) - c.153A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs778924357 | 52 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000015.10:g.65180130C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180130C>A Locations: - p.Ala52Ser (Ensembl:ENST00000300107) - c.154G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088145127 | 52 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000015.10:g.65180129G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180129G>A Locations: - p.Ala52Val (Ensembl:ENST00000300107) - c.155C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1300587420 | 53 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000015.10:g.65180126G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180126G>C Locations: - p.Pro53Arg (Ensembl:ENST00000300107) - c.158C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088145061 | 53 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000015.10:g.65180127G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180127G>A Locations: - p.Pro53Ser (Ensembl:ENST00000300107) - c.157C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269278 | 54 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.39) Somatic: Yes Accession: NC_000015.10:g.65180124G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180124G>A Locations: - c.160C>T (NCI-TCGA:ENST00000300107) - p.L54F (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs771017569 | 55 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.65180121T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180121T>C Locations: - p.Arg55Gly (Ensembl:ENST00000300107) - c.163A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1311098218 | 58 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65180112T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180112T>C Locations: - p.Thr58Ala (Ensembl:ENST00000300107) - c.172A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs756709076 | 59 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000015.10:g.65180109C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180109C>T Locations: - p.Glu59Lys (Ensembl:ENST00000300107) - c.175G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2088144652 | 60 | T>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65180105G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180105G>C Locations: - p.Thr60Arg (Ensembl:ENST00000300107) - c.179C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1426122699 | 61 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.65180102G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180102G>T Locations: - p.Pro61Gln (Ensembl:ENST00000300107) - c.182C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088144595 | 61 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000015.10:g.65180103G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180103G>A Locations: - p.Pro61Ser (Ensembl:ENST00000300107) - c.181C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1167183278 | 63 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000015.10:g.65180096T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180096T>C Locations: - p.Tyr63Cys (Ensembl:ENST00000300107) - c.188A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1474308753 | 64 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000015.10:g.65180094A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180094A>G Locations: - p.Phe64Leu (Ensembl:ENST00000300107) - c.190T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
RCV001872144 RCV004039680 rs147317582 | 65 | A>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.19) Somatic: No Population frequencies: - MAF: 0.00015 (ClinVar) Accession: NC_000015.10:g.65180091C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180091C>A Locations: - p.Ala65Ser (Ensembl:ENST00000300107) - c.193G>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs147317582 | 65 | A>T | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000015.10:g.65180091C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180091C>T Locations: - p.Ala65Thr (Ensembl:ENST00000300107) - c.193G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1194329977 | 65 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000015.10:g.65180090G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180090G>A Locations: - p.Ala65Val (Ensembl:ENST00000300107) - c.194C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs757951129 | 66 | S>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000015.10:g.65180088A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180088A>C Locations: - p.Ser66Ala (Ensembl:ENST00000300107) - c.196T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs750127406 | 66 | S>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65180087G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180087G>A Locations: - p.Ser66Leu (Ensembl:ENST00000300107) - c.197C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs757951129 | 66 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65180088A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180088A>G Locations: - p.Ser66Pro (Ensembl:ENST00000300107) - c.196T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs764783427 | 67 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65180084T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180084T>G Locations: - p.Lys67Thr (Ensembl:ENST00000300107) - c.200A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1249027147 | 68 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65180081T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180081T>C Locations: - p.Asp68Gly (Ensembl:ENST00000300107) - c.203A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs753467289 | 69 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65180078C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180078C>T Locations: - p.Gly69Glu (Ensembl:ENST00000300107) - c.206G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs753467289 | 69 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65180078C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180078C>A Locations: - p.Gly69Val (Ensembl:ENST00000300107) - c.206G>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1311718275 | 70 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000015.10:g.65180074T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180074T>C Locations: - p.Ile70Met (Ensembl:ENST00000300107) - c.210A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1189288302 | 71 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000015.10:g.65180072C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180072C>T Locations: - p.Ser71Asn (Ensembl:ENST00000300107) - c.212G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1257503860 | 72 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65180070T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180070T>C Locations: - p.Lys72Glu (Ensembl:ENST00000300107) - c.214A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1193649918 | 73 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65180066T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180066T>C Locations: - p.Asp73Gly (Ensembl:ENST00000300107) - c.218A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1422578722 | 74 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.206) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65180063C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180063C>T Locations: - p.Gly74Asp (Ensembl:ENST00000300107) - c.221G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1316458095 | 76 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65180058C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180058C>T Locations: - p.Gly76Arg (Ensembl:ENST00000300107) - c.226G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs763927427 | 77 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000015.10:g.65180055C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180055C>T Locations: - p.Asp77Asn (Ensembl:ENST00000300107) - c.229G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs760714024 | 77 | D>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.237) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65180054T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180054T>A Locations: - p.Asp77Val (Ensembl:ENST00000300107) - c.230A>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs375470505 | 78 | G>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65180051C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180051C>G Locations: - p.Gly78Ala (Ensembl:ENST00000300107) - c.233G>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs375470505 | 78 | G>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.376) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65180051C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180051C>T Locations: - p.Gly78Glu (Ensembl:ENST00000300107) - c.233G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2088143109 | 79 | N>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65180049T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180049T>G Locations: - p.Asn79His (Ensembl:ENST00000300107) - c.235A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs767375051 | 79 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000015.10:g.65180047A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180047A>T Locations: - p.Asn79Lys (Ensembl:ENST00000300107) - c.237T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088143053 | 79 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000015.10:g.65180048T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65180048T>C Locations: - p.Asn79Ser (Ensembl:ENST00000300107) - c.236A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs376608462 | 81 | K>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000015.10:g.65179050T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179050T>G Locations: - p.Lys81Thr (Ensembl:ENST00000300107) - c.242A>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
COSV55644527 | 82 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000015.10:g.65179048A>G Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179048A>G Locations: - c.244T>C (NCI-TCGA:ENST00000300107) - p.S82P (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088127597 | 83 | A>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000015.10:g.65179044G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179044G>T Locations: - p.Ala83Glu (Ensembl:ENST00000300107) - c.248C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs752702557 | 84 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000015.10:g.65179042T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179042T>C Locations: - p.Ser84Gly (Ensembl:ENST00000300107) - c.250A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2140649102 | 84 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000015.10:g.65179041C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179041C>T Locations: - p.Ser84Asn (Ensembl:ENST00000300107) - c.251G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55644577 | 85 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.52) Somatic: Yes Accession: NC_000015.10:g.65179039C>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179039C>T Locations: - c.253G>A (NCI-TCGA:ENST00000300107) - p.E85K (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088127462 | 86 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65179035C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179035C>T Locations: - p.Gly86Glu (Ensembl:ENST00000300107) - c.257G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088127315 | 88 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000015.10:g.65179030T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179030T>C Locations: - p.Ser88Gly (Ensembl:ENST00000300107) - c.262A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs767154872 | 89 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000015.10:g.65179027T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179027T>C Locations: - p.Lys89Glu (Ensembl:ENST00000300107) - c.265A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088127218 | 89 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000015.10:g.65179025C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179025C>A Locations: - p.Lys89Asn (Ensembl:ENST00000300107) - c.267G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1302605206 | 90 | K>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000015.10:g.65179023T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179023T>G Locations: - p.Lys90Thr (Ensembl:ENST00000300107) - c.269A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1566986903 | 92 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65179017C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179017C>T Locations: - p.Gly92Asp (Ensembl:ENST00000300107) - c.275G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55643489 | 93 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000015.10:g.65179014G>C Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179014G>C Locations: - c.278C>G (NCI-TCGA:ENST00000300107) - p.S93C (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs759327264 | 94 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65179012C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179012C>T Locations: - p.Gly94Arg (Ensembl:ENST00000300107) - c.280G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1441228301 | 96 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65179005G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179005G>C Locations: - p.Ser96Cys (Ensembl:ENST00000300107) - c.287C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269662 rs1441228301 | 96 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated (0.06) - PolyPhen: probably damaging (0.963) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.000003979 (gnomAD) Accession: NC_000015.10:g.65179005G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179005G>A Locations: - p.S96F (NCI-TCGA:ENST00000300107) - p.Ser96Phe (Ensembl:ENST00000300107) - c.287C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55646206 | 98 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000015.10:g.65179000T>C Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65179000T>C Locations: - c.292A>G (NCI-TCGA:ENST00000300107) - p.K98E (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1250337676 | 100 | G>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65178994C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178994C>T Locations: - p.Gly100Arg (Ensembl:ENST00000300107) - c.298G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088126587 | 101 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000015.10:g.65178990T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178990T>C Locations: - p.Asn101Ser (Ensembl:ENST00000300107) - c.302A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
RCV002146588 rs549129082 | 104 | R>C | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.39) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000015.10:g.65178982G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178982G>A Locations: - p.Arg104Cys (Ensembl:ENST00000300107) - c.310C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs369681637 | 104 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000015.10:g.65178981C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178981C>T Locations: - p.Arg104His (Ensembl:ENST00000300107) - c.311G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2140648997 | 109 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65178967C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178967C>T Locations: - p.Gly109Ser (Ensembl:ENST00000300107) - c.325G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs956977683 | 110 | D>E | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65178962G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178962G>C Locations: - p.Asp110Glu (Ensembl:ENST00000300107) - c.330C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV99037905 rs769111203 | 110 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (0.14) - PolyPhen: benign (0.116) - SIFT: tolerated (0.12) Somatic: No Population frequencies: - MAF: 0.00001196 (gnomAD) Accession: NC_000015.10:g.65178964C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178964C>T Locations: - p.D110N (NCI-TCGA:ENST00000300107) - p.Asp110Asn (Ensembl:ENST00000300107) - c.328G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088126078 | 111 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.341) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65178959C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178959C>A Locations: - p.Leu111Phe (Ensembl:ENST00000300107) - c.333G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2088126019 | 112 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65178958A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178958A>G Locations: - p.Cys112Arg (Ensembl:ENST00000300107) - c.334T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 114 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.795) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000015.10:g.65178952G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178952G>A Locations: - c.340C>T (NCI-TCGA:ENST00000300107) - p.H114Y (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2088125896 | 115 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.715) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65178948A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178948A>G Locations: - p.Val115Ala (Ensembl:ENST00000300107) - c.344T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 115 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.314) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000015.10:g.65178949C>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178949C>T Locations: - c.343G>A (NCI-TCGA:ENST00000300107) - p.V115I (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2088125792 | 119 | V>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.644) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65178936A>T Codon: GTA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178936A>T Locations: - p.Val119Glu (Ensembl:ENST00000300107) - c.356T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1356202522 | 119 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.153) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65178937C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178937C>T Locations: - p.Val119Ile (Ensembl:ENST00000300107) - c.355G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1371261198 | 120 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65178934A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65178934A>G Locations: - p.Ser120Pro (Ensembl:ENST00000300107) - c.358T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1215001066 | 121 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.732) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65166783A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166783A>G Locations: - p.Ser121Pro (Ensembl:ENST00000300107) - c.361T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1489319376 | 122 | T>A | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65166780T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166780T>C Locations: - p.Thr122Ala (Ensembl:ENST00000300107) - c.364A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1286766996 | 122 | T>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000015.10:g.65166779G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166779G>T Locations: - p.Thr122Asn (Ensembl:ENST00000300107) - c.365C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087920183 | 123 | R>H | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.643) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65166776C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166776C>T Locations: - p.Arg123His (Ensembl:ENST00000300107) - c.368G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087920233 | 123 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65166777G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166777G>T Locations: - p.Arg123Ser (Ensembl:ENST00000300107) - c.367C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55644401 | 126 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000015.10:g.65166766C>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166766C>A Locations: - c.378G>T (NCI-TCGA:ENST00000300107) - p.K126N (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs867518178 | 128 | E>K | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000015.10:g.65166762C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166762C>T Locations: - p.Glu128Lys (Ensembl:ENST00000300107) - c.382G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087919969 | 129 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65166759T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166759T>C Locations: - p.Lys129Glu (Ensembl:ENST00000300107) - c.385A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1310628581 | 131 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65166752T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166752T>C Locations: - p.His131Arg (Ensembl:ENST00000300107) - c.392A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1318438048 | 135 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.384) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65166740A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166740A>G Locations: - p.Val135Ala (Ensembl:ENST00000300107) - c.404T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 135 | V>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.132) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65166741C>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166741C>A Locations: - c.403G>T (NCI-TCGA:ENST00000300107) - p.V135F (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs112193665 | 139 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65166729C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166729C>T Locations: - p.Glu139Lys (Ensembl:ENST00000300107) - c.415G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs777481622 | 141 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.172) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65166722T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166722T>C Locations: - p.Asp141Gly (Ensembl:ENST00000300107) - c.422A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
TCGA novel | 142 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65166719G>C Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166719G>C Locations: - c.425C>G (NCI-TCGA:ENST00000300107) - p.S142* (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2087919389 | 142 | S>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65166719G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166719G>A Locations: - p.Ser142Leu (Ensembl:ENST00000300107) - c.425C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087919321 | 143 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.669) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65166716T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166716T>C Locations: - p.Lys143Arg (Ensembl:ENST00000300107) - c.428A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1360525952 | 144 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000015.10:g.65166714T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166714T>C Locations: - p.Lys144Glu (Ensembl:ENST00000300107) - c.430A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 145 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65166710C>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166710C>A Locations: - c.434G>T (NCI-TCGA:ENST00000300107) - p.S145I (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2087919163 | 145 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000015.10:g.65166710C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166710C>G Locations: - p.Ser145Thr (Ensembl:ENST00000300107) - c.434G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087919024 | 146 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000015.10:g.65166706T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166706T>C Locations: - p.Ile146Met (Ensembl:ENST00000300107) - c.438A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1178772924 | 146 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000015.10:g.65166708T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166708T>C Locations: - p.Ile146Val (Ensembl:ENST00000300107) - c.436A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 147 | I>K | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000015.10:g.65166703_65166704del Consequence type: frameshift Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166703_65166704del Locations: - c.440_441del (NCI-TCGA:ENST00000300107) - p.I147Kfs*4 (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1892475112 | 147 | I>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000015.10:g.65166704A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166704A>T Locations: - p.Ile147Asn (Ensembl:ENST00000300107) - c.440T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1030780568 | 147 | I>V | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000015.10:g.65166705T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166705T>C Locations: - p.Ile147Val (Ensembl:ENST00000300107) - c.439A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087918773 | 148 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000015.10:g.65166701T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166701T>C Locations: - p.Lys148Arg (Ensembl:ENST00000300107) - c.443A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1278939627 | 150 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65166695G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166695G>A Locations: - p.Pro150Leu (Ensembl:ENST00000300107) - c.449C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs780614650 | 150 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000015.10:g.65166696G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166696G>T Locations: - p.Pro150Thr (Ensembl:ENST00000300107) - c.448C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1229888241 | 151 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65166692T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166692T>C Locations: - p.Glu151Gly (Ensembl:ENST00000300107) - c.452A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1595941553 | 151 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000015.10:g.65166693C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166693C>G Locations: - p.Glu151Gln (Ensembl:ENST00000300107) - c.451G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087918240 | 153 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000015.10:g.65166687C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166687C>A Locations: - p.Ala153Ser (Ensembl:ENST00000300107) - c.457G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 154 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000015.10:g.65166683G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166683G>A Locations: - c.461C>T (NCI-TCGA:ENST00000300107) - p.A154V (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
RCV002113307 RCV004046283 rs149270152 | 155 | E>K | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) - MAF: 0.000392465 (1000Genomes) Accession: NC_000015.10:g.65166681C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166681C>T Locations: - p.Glu155Lys (Ensembl:ENST00000300107) - c.463G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
TCGA novel | 157 | V>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000015.10:g.65166674A>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166674A>T Locations: - c.470T>A (NCI-TCGA:ENST00000300107) - p.V157E (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs779771028 | 157 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65166675C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166675C>T Locations: - p.Val157Ile (Ensembl:ENST00000300107) - c.469G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1306733001 | 160 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000015.10:g.65166666C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166666C>T Locations: - p.Ala160Thr (Ensembl:ENST00000300107) - c.478G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1239500689 | 161 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000015.10:g.65166661G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166661G>C Locations: - p.Phe161Leu (Ensembl:ENST00000300107) - c.483C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
RCV002003903 rs1220437534 | 162 | Q>E | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.3) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000015.10:g.65166660G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166660G>C Locations: - p.Gln162Glu (Ensembl:ENST00000300107) - c.484C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1566982533 | 163 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65166657G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166657G>A Locations: - p.Gln163Ter (Ensembl:ENST00000300107) - c.487C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087917548 | 163 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65166655C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166655C>G Locations: - p.Gln163His (Ensembl:ENST00000300107) - c.489G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs201236679 | 163 | Q>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000015.10:g.65166656T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166656T>G Locations: - p.Gln163Pro (Ensembl:ENST00000300107) - c.488A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269510 | 165 | P>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.757) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000015.10:g.65166650G>C Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166650G>C Locations: - c.494C>G (NCI-TCGA:ENST00000300107) - p.P165R (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1362632298 | 166 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65166648G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166648G>A Locations: - p.Pro166Ser (Ensembl:ENST00000300107) - c.496C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs765484364 | 167 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65166645G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166645G>C Locations: - p.Pro167Ala (Ensembl:ENST00000300107) - c.499C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs765484364 | 167 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65166645G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166645G>T Locations: - p.Pro167Thr (Ensembl:ENST00000300107) - c.499C>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1043589175 | 168 | P>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.386) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65166641G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166641G>T Locations: - p.Pro168His (Ensembl:ENST00000300107) - c.503C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1043589175 | 168 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65166641G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166641G>A Locations: - p.Pro168Leu (Ensembl:ENST00000300107) - c.503C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55646976 | 168 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000015.10:g.65166642G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166642G>A Locations: - c.502C>T (NCI-TCGA:ENST00000300107) - p.P168S (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269381 | 169 | P>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000015.10:g.65166639G>C Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166639G>C Locations: - c.505C>G (NCI-TCGA:ENST00000300107) - p.P169A (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2140630550 | 169 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65166639G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166639G>T Locations: - p.Pro169Thr (Ensembl:ENST00000300107) - c.505C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1417505732 | 171 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65166633T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65166633T>C Locations: - p.Lys171Glu (Ensembl:ENST00000300107) - c.511A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1208018219 | 172 | I>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.274) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65164188T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164188T>A Locations: - p.Ile172Phe (Ensembl:ENST00000300107) - c.514A>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 175 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.886) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65164178T>C Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164178T>C Locations: - c.524A>G (NCI-TCGA:ENST00000300107) - p.Y175C (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs761242378 | 177 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.904) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65164171G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164171G>C Locations: - p.Asp177Glu (Ensembl:ENST00000300107) - c.531C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1265567909 | 177 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000015.10:g.65164173C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164173C>T Locations: - p.Asp177Asn (Ensembl:ENST00000300107) - c.529G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1566981770 | 178 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000015.10:g.65164169T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164169T>C Locations: - p.Lys178Arg (Ensembl:ENST00000300107) - c.533A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1351138236 | 181 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000015.10:g.65164161C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164161C>T Locations: - p.Val181Ile (Ensembl:ENST00000300107) - c.541G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs754025732 | 184 | S>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65164152A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164152A>G Locations: - p.Ser184Pro (Ensembl:ENST00000300107) - c.550T>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2087883073 | 185 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000015.10:g.65164149A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164149A>G Locations: - p.Phe185Leu (Ensembl:ENST00000300107) - c.553T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1330583234 | 186 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65164145G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164145G>T Locations: - p.Ala186Asp (Ensembl:ENST00000300107) - c.557C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1378154339 | 188 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65164140T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164140T>G Locations: - p.Lys188Gln (Ensembl:ENST00000300107) - c.562A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1384387791 | 190 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65164133A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164133A>C Locations: - p.Leu190Arg (Ensembl:ENST00000300107) - c.569T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs376866919 | 194 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65164122C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164122C>T Locations: - p.Val194Met (Ensembl:ENST00000300107) - c.580G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs760009249 | 196 | N>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65164116T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164116T>G Locations: - p.Asn196His (Ensembl:ENST00000300107) - c.586A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs774744211 | 196 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65164115T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164115T>C Locations: - p.Asn196Ser (Ensembl:ENST00000300107) - c.587A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1419180290 | 197 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65164112T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164112T>C Locations: - p.His197Arg (Ensembl:ENST00000300107) - c.590A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55644784 rs2087882296 | 198 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.701) - SIFT: deleterious (0.02) - PolyPhen: possibly damaging (0.71) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000015.10:g.65164109T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164109T>C Locations: - p.Y198C (NCI-TCGA:ENST00000300107) - p.Tyr198Cys (Ensembl:ENST00000300107) - c.593A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs766677529 | 200 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65164103C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164103C>T Locations: - p.Arg200Lys (Ensembl:ENST00000300107) - c.599G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
COSV55644641 | 200 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65164103C>G Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164103C>G Locations: - c.599G>C (NCI-TCGA:ENST00000300107) - p.R200T (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
RCV002032951 rs34481002 | 201 | I>L | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.22) Somatic: No Population frequencies: - MAF: 0.0001 (ClinVar) Accession: NC_000015.10:g.65164101T>G Codon: ATA/CTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164101T>G Locations: - p.Ile201Leu (Ensembl:ENST00000300107) - c.601A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269333 | 202 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.664) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000015.10:g.65164097T>C Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164097T>C Locations: - c.605A>G (NCI-TCGA:ENST00000300107) - p.Y202C (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087882016 | 202 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000015.10:g.65164098A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164098A>G Locations: - p.Tyr202His (Ensembl:ENST00000300107) - c.604T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1376893004 | 203 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000015.10:g.65164094T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164094T>C Locations: - p.Asn203Ser (Ensembl:ENST00000300107) - c.608A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1196452618 | 205 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65164088A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164088A>G Locations: - p.Ile205Thr (Ensembl:ENST00000300107) - c.614T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087881877 | 206 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.705) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65164085G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164085G>A Locations: - p.Pro206Leu (Ensembl:ENST00000300107) - c.617C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs370213005 | 210 | R>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000015.10:g.65164073C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164073C>T Locations: - p.Arg210Lys (Ensembl:ENST00000300107) - c.629G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2087881799 | 212 | Q>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000015.10:g.65164068G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164068G>T Locations: - p.Gln212Lys (Ensembl:ENST00000300107) - c.634C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087881753 | 212 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65164067T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164067T>C Locations: - p.Gln212Arg (Ensembl:ENST00000300107) - c.635A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs768363863 | 213 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000015.10:g.65164065C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164065C>T Locations: - p.Ala213Thr (Ensembl:ENST00000300107) - c.637G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1423944915 | 215 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000015.10:g.65164058A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164058A>G Locations: - p.Val215Ala (Ensembl:ENST00000300107) - c.644T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs775033748 | 215 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000015.10:g.65164059C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164059C>T Locations: - p.Val215Ile (Ensembl:ENST00000300107) - c.643G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
COSV55643324 | 216 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.37) Somatic: Yes Accession: NC_000015.10:g.65164054C>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164054C>A Locations: - c.648G>T (NCI-TCGA:ENST00000300107) - p.E216D (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1163453717 | 216 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65164056C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164056C>T Locations: - p.Glu216Lys (Ensembl:ENST00000300107) - c.646G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs772018299 | 219 | T>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000015.10:g.65164046G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164046G>A Locations: - p.Thr219Ile (Ensembl:ENST00000300107) - c.656C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
COSV100269313 | 220 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000015.10:g.65164043G>C Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164043G>C Locations: - c.659C>G (NCI-TCGA:ENST00000300107) - p.S220* (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1432102935 | 222 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65164037G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164037G>A Locations: - p.Thr222Ile (Ensembl:ENST00000300107) - c.665C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1343826936 | 223 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65164034G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164034G>A Locations: - p.Pro223Leu (Ensembl:ENST00000300107) - c.668C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs867411725 | 223 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65164035G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164035G>A Locations: - p.Pro223Ser (Ensembl:ENST00000300107) - c.667C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087881317 | 224 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65164032T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164032T>C Locations: - p.Arg224Gly (Ensembl:ENST00000300107) - c.670A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs776275940 | 224 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000015.10:g.65164031C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164031C>T Locations: - p.Arg224Lys (Ensembl:ENST00000300107) - c.671G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs776275940 | 224 | R>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65164031C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164031C>G Locations: - p.Arg224Thr (Ensembl:ENST00000300107) - c.671G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55644342 | 225 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000015.10:g.65164029C>A Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65164029C>A Locations: - c.673G>T (NCI-TCGA:ENST00000300107) - p.E225* (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1027364825 | 226 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65162643A>T Codon: TTA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65162643A>T Locations: - p.Leu226Ile (Ensembl:ENST00000300107) - c.676T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1566981296 | 228 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000015.10:g.65162637T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65162637T>A Locations: - p.Ile228Leu (Ensembl:ENST00000300107) - c.682A>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs749081927 | 231 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.435) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65162627C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65162627C>G Locations: - p.Arg231Pro (Ensembl:ENST00000300107) - c.692G>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs749081927 | 231 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.435) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000015.10:g.65162627C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65162627C>T Locations: - p.Arg231Gln (Ensembl:ENST00000300107) - c.692G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs770963766 | 231 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65162628G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65162628G>A Locations: - p.Arg231Trp (Ensembl:ENST00000300107) - c.691C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2087867438 | 234 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000015.10:g.65162619C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65162619C>G Locations: - p.Glu234Gln (Ensembl:ENST00000300107) - c.700G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs748410727 | 236 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.49) - PolyPhen: benign (0.02) - SIFT: tolerated (0.27) Somatic: No Population frequencies: - MAF: 0.000004129 (gnomAD) Accession: NC_000015.10:g.65162612C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65162612C>T Locations: - p.R236K (NCI-TCGA:ENST00000300107) - p.Arg236Lys (Ensembl:ENST00000300107) - c.707G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs781278027 | 237 | F>C | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65162609A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65162609A>C Locations: - p.Phe237Cys (Ensembl:ENST00000300107) - c.710T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
RCV001890390 rs181452957 | 238 | T>A | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.15) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000015.10:g.65162607T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65162607T>C Locations: - p.Thr238Ala (Ensembl:ENST00000300107) - c.712A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs867070188 | 242 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65158743G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158743G>T Locations: - p.Gln242Lys (Ensembl:ENST00000300107) - c.724C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087820120 | 242 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.315) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65158742T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158742T>C Locations: - p.Gln242Arg (Ensembl:ENST00000300107) - c.725A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1237181516 | 246 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000015.10:g.65158731T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158731T>C Locations: - p.Ile246Val (Ensembl:ENST00000300107) - c.736A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2140619505 | 247 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000015.10:g.65158727C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158727C>T Locations: - p.Ser247Asn (Ensembl:ENST00000300107) - c.740G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs964133250 | 248 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65158725G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158725G>A Locations: - p.Pro248Ser (Ensembl:ENST00000300107) - c.742C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1176325125 | 249 | H>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.315) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000015.10:g.65158721T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158721T>G Locations: - p.His249Pro (Ensembl:ENST00000300107) - c.746A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs768980175 | 249 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000015.10:g.65158720A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158720A>C Locations: - p.His249Gln (Ensembl:ENST00000300107) - c.747T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1176325125 | 249 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65158721T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158721T>C Locations: - p.His249Arg (Ensembl:ENST00000300107) - c.746A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs780226878 | 250 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65158718C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158718C>T Locations: - p.Gly250Asp (Ensembl:ENST00000300107) - c.749G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
RCV002132181 RCV003913724 rs117517219 | 250 | G>S | CLPX-related disorder (ClinVar) | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0.001 (ClinVar) - MAF: 0.000981162 (1000Genomes) Accession: NC_000015.10:g.65158719C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158719C>T Locations: - p.Gly250Ser (Ensembl:ENST00000300107) - c.748G>A (Ensembl:ENST00000300107) Disease association: - CLPX-related disorder Source type: large scale study | |||||||
rs1451518396 | 251 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.46) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65158716T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158716T>C Locations: - p.Asn251Asp (Ensembl:ENST00000300107) - c.751A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087819737 | 253 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65158708T>G Codon: TTA/TTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158708T>G Locations: - p.Leu253Phe (Ensembl:ENST00000300107) - c.759A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1287890397 | 253 | L>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65158709A>G Codon: TTA/TCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158709A>G Locations: - p.Leu253Ser (Ensembl:ENST00000300107) - c.758T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55645037 | 254 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000015.10:g.65158707C>A Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158707C>A Locations: - c.760G>T (NCI-TCGA:ENST00000300107) - p.G254* (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087819669 | 256 | S>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65158700G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158700G>A Locations: - p.Ser256Leu (Ensembl:ENST00000300107) - c.767C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs138152101 | 257 | M>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000015.10:g.65158698T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158698T>A Locations: - p.Met257Leu (Ensembl:ENST00000300107) - c.769A>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs138152101 | 257 | M>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000015.10:g.65158698T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158698T>C Locations: - p.Met257Val (Ensembl:ENST00000300107) - c.769A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs750953705 | 258 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65158693C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158693C>A Locations: - p.Gln258His (Ensembl:ENST00000300107) - c.774G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs953664621 | 258 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65158694T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158694T>C Locations: - p.Gln258Arg (Ensembl:ENST00000300107) - c.773A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs779188649 | 259 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65158692G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158692G>C Locations: - p.Gln259Glu (Ensembl:ENST00000300107) - c.775C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1238184819 | 259 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.307) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65158691T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158691T>C Locations: - p.Gln259Arg (Ensembl:ENST00000300107) - c.776A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs757619116 | 261 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000015.10:g.65158685A>C Codon: GTA/GGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158685A>C Locations: - p.Val261Gly (Ensembl:ENST00000300107) - c.782T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269419 | 262 | N>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.332) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000015.10:g.65158683T>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158683T>A Locations: - c.784A>T (NCI-TCGA:ENST00000300107) - p.N262Y (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs374529359 | 264 | Q>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65158675T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158675T>G Locations: - p.Gln264His (Ensembl:ENST00000300107) - c.792A>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs767058816 | 265 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000015.10:g.65158673A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158673A>G Locations: - p.Ile265Thr (Ensembl:ENST00000300107) - c.794T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1274908983 | 266 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000015.10:g.65158671G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158671G>A Locations: - p.Pro266Ser (Ensembl:ENST00000300107) - c.796C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1274908983 | 266 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65158671G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158671G>T Locations: - p.Pro266Thr (Ensembl:ENST00000300107) - c.796C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087819190 | 267 | Q>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000015.10:g.65158667T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158667T>G Locations: - p.Gln267Pro (Ensembl:ENST00000300107) - c.800A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2140619359 | 269 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000015.10:g.65158662T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158662T>C Locations: - p.Lys269Glu (Ensembl:ENST00000300107) - c.805A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs759281371 | 270 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65158659G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158659G>A Locations: - p.Arg270Ter (Ensembl:ENST00000300107) - c.808C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs145543919 | 270 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000015.10:g.65158658C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158658C>T Locations: - p.Arg270Gln (Ensembl:ENST00000300107) - c.809G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1595938009 | 272 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.278) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65158652C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158652C>A Locations: - p.Gly272Val (Ensembl:ENST00000300107) - c.815G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087819012 | 274 | V>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.315) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65158646A>T Codon: GTA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158646A>T Locations: - p.Val274Glu (Ensembl:ENST00000300107) - c.821T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1187839679 | 274 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000015.10:g.65158647C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158647C>T Locations: - p.Val274Ile (Ensembl:ENST00000300107) - c.820G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs765943238 | 279 | H>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000015.10:g.65158631T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158631T>G Locations: - p.His279Pro (Ensembl:ENST00000300107) - c.836A>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs765943238 | 279 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000015.10:g.65158631T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158631T>C Locations: - p.His279Arg (Ensembl:ENST00000300107) - c.836A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
COSV55646913 | 280 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.23) Somatic: Yes Accession: NC_000015.10:g.65158628T>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158628T>A Locations: - c.839A>T (NCI-TCGA:ENST00000300107) - p.D280V (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55645997 | 281 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.594) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65158626C>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158626C>A Locations: - c.841G>T (NCI-TCGA:ENST00000300107) - p.D281Y (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs762932443 | 282 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000015.10:g.65158623T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158623T>C Locations: - p.Ile282Val (Ensembl:ENST00000300107) - c.844A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1177413725 | 283 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65158620T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158620T>G Locations: - p.Lys283Gln (Ensembl:ENST00000300107) - c.847A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1406694374 | 284 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65158617G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158617G>C Locations: - p.Leu284Val (Ensembl:ENST00000300107) - c.850C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs773289504 | 286 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65158610T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158610T>C Locations: - p.Lys286Arg (Ensembl:ENST00000300107) - c.857A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 287 | S>K | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000015.10:g.65158607_65158608insT Consequence type: frameshift Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158607_65158608insT Locations: - c.859dup (NCI-TCGA:ENST00000300107) - p.S287Kfs*2 (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1416728216 | 288 | N>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65158605T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158605T>G Locations: - p.Asn288His (Ensembl:ENST00000300107) - c.862A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs765333543 | 290 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65158597C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158597C>A Locations: - p.Leu290Phe (Ensembl:ENST00000300107) - c.870G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269613 | 292 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000015.10:g.65158593G>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158593G>T Locations: - c.874C>A (NCI-TCGA:ENST00000300107) - p.L292I (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs976241733 | 294 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65158587G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158587G>C Locations: - p.Pro294Ala (Ensembl:ENST00000300107) - c.880C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087818378 | 297 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65158577G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65158577G>A Locations: - p.Ser297Leu (Ensembl:ENST00000300107) - c.890C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
VAR_081001 RCV000656530 rs1555412542 | 298 | G>D | EPP2; results in decreased ATP hydrolysis; cells with the mutant protein show increased ALA levels and accumulation of the heme biosynthesis intermediate protoporphyrin IX (UniProt) Protoporphyria, erythropoietic, 2 (ClinVar) | Pathogenic (UniProt) | UniProt ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157910C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157910C>T Locations: - p.Gly298Asp (Ensembl:ENST00000300107) - c.893G>A (Ensembl:ENST00000300107) - p.Gly298Asp (UniProt:O76031) Disease association: - Protoporphyria, erythropoietic, 2 (EPP2) Source type: mixed Cross-references: | |||||||
rs1481034366 | 300 | T>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157904G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157904G>T Locations: - p.Thr300Asn (Ensembl:ENST00000300107) - c.899C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269432 | 301 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65157901A>G Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157901A>G Locations: - c.902T>C (NCI-TCGA:ENST00000300107) - p.L301P (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs763973912 | 301 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157902G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157902G>C Locations: - p.Leu301Val (Ensembl:ENST00000300107) - c.901C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1191578287 | 303 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.858) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157896C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157896C>T Locations: - p.Ala303Thr (Ensembl:ENST00000300107) - c.907G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087809125 | 304 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157893G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157893G>C Locations: - p.Gln304Glu (Ensembl:ENST00000300107) - c.910C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087809067 | 305 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157889G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157889G>A Locations: - p.Thr305Ile (Ensembl:ENST00000300107) - c.914C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1261530720 | 306 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65157887G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157887G>C Locations: - p.Leu306Val (Ensembl:ENST00000300107) - c.916C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1234418248 | 311 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157872C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157872C>T Locations: - p.Asp311Asn (Ensembl:ENST00000300107) - c.931G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1209610652 | 312 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65157869C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157869C>T Locations: - p.Val312Ile (Ensembl:ENST00000300107) - c.934G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1310241318 | 315 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65157860C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157860C>T Locations: - p.Ala315Thr (Ensembl:ENST00000300107) - c.943G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs745930831 | 316 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65157857T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157857T>G Locations: - p.Ile316Leu (Ensembl:ENST00000300107) - c.946A>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs745930831 | 316 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.789) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65157857T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157857T>C Locations: - p.Ile316Val (Ensembl:ENST00000300107) - c.946A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1251447938 | 317 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157853C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157853C>T Locations: - p.Cys317Tyr (Ensembl:ENST00000300107) - c.950G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs376469682 | 319 | C>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157848A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157848A>G Locations: - p.Cys319Arg (Ensembl:ENST00000300107) - c.955T>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs767491870 | 322 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157839A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157839A>C Locations: - p.Leu322Val (Ensembl:ENST00000300107) - c.964T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269285 | 323 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65157836T>C Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157836T>C Locations: - c.967A>G (NCI-TCGA:ENST00000300107) - p.T323A (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55645261 | 324 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000015.10:g.65157833G>A Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157833G>A Locations: - c.970C>T (NCI-TCGA:ENST00000300107) - p.Q324* (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs894184375 | 324 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157832T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157832T>C Locations: - p.Gln324Arg (Ensembl:ENST00000300107) - c.971A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs756514374 | 332 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157808A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157808A>G Locations: - p.Ile332Thr (Ensembl:ENST00000300107) - c.995T>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs140343605 | 332 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65157809T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157809T>C Locations: - p.Ile332Val (Ensembl:ENST00000300107) - c.994A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
TCGA novel | 334 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157802G>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157802G>T Locations: - c.1001C>A (NCI-TCGA:ENST00000300107) - p.S334Y (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2087808072 | 336 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157795A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157795A>C Locations: - p.Ile336Met (Ensembl:ENST00000300107) - c.1008T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269343 | 337 | A>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000015.10:g.65157793G>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157793G>T Locations: - c.1010C>A (NCI-TCGA:ENST00000300107) - p.A337E (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087808026 | 337 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157793G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157793G>A Locations: - p.Ala337Val (Ensembl:ENST00000300107) - c.1010C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs373159447 | 342 | D>E | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.411) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000015.10:g.65157777A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157777A>C Locations: - p.Asp342Glu (Ensembl:ENST00000300107) - c.1026T>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs779841328 | 343 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157775G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157775G>C Locations: - p.Ala343Gly (Ensembl:ENST00000300107) - c.1028C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs151195584 | 344 | N>K | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65157771A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157771A>C Locations: - p.Asn344Lys (Ensembl:ENST00000300107) - c.1032T>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs201645826 | 345 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157769T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157769T>C Locations: - p.Tyr345Cys (Ensembl:ENST00000300107) - c.1034A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs764875363 | 346 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000015.10:g.65157766T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157766T>C Locations: - p.Asn346Ser (Ensembl:ENST00000300107) - c.1037A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1262457728 | 347 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.332) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157764C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157764C>A Locations: - p.Val347Leu (Ensembl:ENST00000300107) - c.1039G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269331 | 347 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65157764C>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157764C>T Locations: - c.1039G>A (NCI-TCGA:ENST00000300107) - p.V347M (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55643741 | 348 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000015.10:g.65157759T>G Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157759T>G Locations: - c.1044A>C (NCI-TCGA:ENST00000300107) - p.E348D (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1181526160 | 348 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157760T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157760T>A Locations: - p.Glu348Val (Ensembl:ENST00000300107) - c.1043A>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269396 | 349 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000015.10:g.65157757T>G Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157757T>G Locations: - c.1046A>C (NCI-TCGA:ENST00000300107) - p.K349T (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087807337 | 350 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65157755C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157755C>T Locations: - p.Ala350Thr (Ensembl:ENST00000300107) - c.1048G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 351 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157750T>G Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157750T>G Locations: - c.1053A>C (NCI-TCGA:ENST00000300107) - p.Q351H (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1204055522 | 352 | Q>H | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65157747T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157747T>G Locations: - p.Gln352His (Ensembl:ENST00000300107) - c.1056A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs536717501 | 352 | Q>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000015.10:g.65157748T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65157748T>C Locations: - p.Gln352Arg (Ensembl:ENST00000300107) - c.1055A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1037038295 | 358 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65156918C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156918C>T Locations: - p.Asp358Asn (Ensembl:ENST00000300107) - c.1072G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55646747 | 359 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65156915C>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156915C>T Locations: - c.1075G>A (NCI-TCGA:ENST00000300107) - p.E359K (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55647221 | 363 | I>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65156903T>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156903T>A Locations: - c.1087A>T (NCI-TCGA:ENST00000300107) - p.I363F (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1477049807 | 363 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65156902A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156902A>G Locations: - p.Ile363Thr (Ensembl:ENST00000300107) - c.1088T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55643316 | 364 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65156899C>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156899C>T Locations: - c.1091G>A (NCI-TCGA:ENST00000300107) - p.G364D (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1456470053 | 364 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65156899C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156899C>A Locations: - p.Gly364Val (Ensembl:ENST00000300107) - c.1091G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs941332167 | 366 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65156893A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156893A>G Locations: - p.Val366Ala (Ensembl:ENST00000300107) - c.1097T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1415811686 | 366 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65156894C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156894C>A Locations: - p.Val366Leu (Ensembl:ENST00000300107) - c.1096G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1415811686 | 366 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.697) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65156894C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156894C>T Locations: - p.Val366Met (Ensembl:ENST00000300107) - c.1096G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs867893552 | 367 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.461) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65156891G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156891G>A Locations: - p.Pro367Ser (Ensembl:ENST00000300107) - c.1099C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 368 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.759) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65156887C>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156887C>T Locations: - c.1103G>A (NCI-TCGA:ENST00000300107) - p.G368D (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1367476844 | 368 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65156887C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156887C>A Locations: - p.Gly368Val (Ensembl:ENST00000300107) - c.1103G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087796328 | 369 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000015.10:g.65156885T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156885T>C Locations: - p.Ile369Val (Ensembl:ENST00000300107) - c.1105A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55646731 | 370 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000015.10:g.65156881T>C Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156881T>C Locations: - c.1109A>G (NCI-TCGA:ENST00000300107) - p.H370R (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 370 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65156882G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156882G>A Locations: - c.1108C>T (NCI-TCGA:ENST00000300107) - p.H370Y (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1163654766 | 371 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65156878T>G Codon: CAA/CCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156878T>G Locations: - p.Gln371Pro (Ensembl:ENST00000300107) - c.1112A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269245 | 371 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000015.10:g.65156878T>C Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156878T>C Locations: - c.1112A>G (NCI-TCGA:ENST00000300107) - p.Q371R (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs759705385 | 373 | R>W | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65156873G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156873G>A Locations: - p.Arg373Trp (Ensembl:ENST00000300107) - c.1117C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1019314405 | 376 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65156864C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156864C>T Locations: - p.Gly376Ser (Ensembl:ENST00000300107) - c.1126G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087795931 | 378 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65156858C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156858C>T Locations: - p.Glu378Lys (Ensembl:ENST00000300107) - c.1132G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55644251 | 380 | V>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65156852C>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156852C>A Locations: - c.1138G>T (NCI-TCGA:ENST00000300107) - p.V380F (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087795795 | 380 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65156852C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156852C>T Locations: - p.Val380Ile (Ensembl:ENST00000300107) - c.1138G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269327 | 382 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65156845T>C Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65156845T>C Locations: - c.1145A>G (NCI-TCGA:ENST00000300107) - p.Q382R (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs757400794 | 384-385 | LL>* | ExAC | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65155851_65155852insTAT Codon: TTATTA/TTATAATTA Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155851_65155852insTAT Locations: - p.Leu384_Leu385insTer (Ensembl:ENST00000300107) - c.1153_1154insAAT (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087783343 | 391 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000015.10:g.65155832T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155832T>C Locations: - p.Thr391Ala (Ensembl:ENST00000300107) - c.1171A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1255743061 | 393 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.446) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000015.10:g.65155826C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155826C>T Locations: - p.Val393Ile (Ensembl:ENST00000300107) - c.1177G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1228126721 | 394 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.714) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155821A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155821A>T Locations: - p.Asn394Lys (Ensembl:ENST00000300107) - c.1182T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs750476540 | 394 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.714) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65155822T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155822T>C Locations: - p.Asn394Ser (Ensembl:ENST00000300107) - c.1181A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2087783197 | 395 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65155819A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155819A>G Locations: - p.Val395Ala (Ensembl:ENST00000300107) - c.1184T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087783149 | 396 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65155817G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155817G>C Locations: - p.Pro396Ala (Ensembl:ENST00000300107) - c.1186C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087783113 | 396 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155816G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155816G>A Locations: - p.Pro396Leu (Ensembl:ENST00000300107) - c.1187C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55643359 | 396 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000015.10:g.65155817G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155817G>A Locations: - c.1186C>T (NCI-TCGA:ENST00000300107) - p.P396S (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55643619 COSV55645334 | 397 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.876) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155814C>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155814C>T Locations: - c.1189G>A (NCI-TCGA:ENST00000300107) - p.E397K (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs765256546 | 399 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65155807T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155807T>C Locations: - p.Asn399Ser (Ensembl:ENST00000300107) - c.1196A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs762356000 | 400 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65155804G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155804G>C Locations: - p.Ser400Cys (Ensembl:ENST00000300107) - c.1199C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 400 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155804G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155804G>A Locations: - c.1199C>T (NCI-TCGA:ENST00000300107) - p.S400F (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1399479428 | 401 | R>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65155802G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155802G>A Locations: - p.Arg401Ter (Ensembl:ENST00000300107) - c.1201C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs747996124 | 401 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65155801C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155801C>T Locations: - p.Arg401Gln (Ensembl:ENST00000300107) - c.1202G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1595936830 | 404 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155793G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155793G>A Locations: - p.Arg404Cys (Ensembl:ENST00000300107) - c.1210C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1595936825 | 404 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65155792C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155792C>T Locations: - p.R404H (NCI-TCGA:ENST00000300107) - p.Arg404His (Ensembl:ENST00000300107) - c.1211G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV55646937 | 405 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000015.10:g.65155789C>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155789C>A Locations: - c.1214G>T (NCI-TCGA:ENST00000300107) - p.G405V (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1320556840 | 407 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000015.10:g.65155784T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155784T>C Locations: - p.Thr407Ala (Ensembl:ENST00000300107) - c.1219A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087782594 | 409 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65155778G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155778G>T Locations: - p.Gln409Lys (Ensembl:ENST00000300107) - c.1225C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1027160427 | 410 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155774A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155774A>G Locations: - p.Val410Ala (Ensembl:ENST00000300107) - c.1229T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs149761898 | 410 | V>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000015.10:g.65155775C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155775C>T Locations: - p.Val410Ile (Ensembl:ENST00000300107) - c.1228G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs775764773 | 411 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65155772C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155772C>T Locations: - p.Asp411Asn (Ensembl:ENST00000300107) - c.1231G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1429901372 | 412 | T>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155768G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155768G>T Locations: - p.Thr412Lys (Ensembl:ENST00000300107) - c.1235C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1429901372 | 412 | T>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155768G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155768G>C Locations: - p.Thr412Arg (Ensembl:ENST00000300107) - c.1235C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs770581618 | 413 | T>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65155766T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155766T>C Locations: - p.Thr413Ala (Ensembl:ENST00000300107) - c.1237A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs112493401 | 413 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65155765G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155765G>A Locations: - p.Thr413Ile (Ensembl:ENST00000300107) - c.1238C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs112493401 | 413 | T>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155765G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155765G>T Locations: - p.Thr413Lys (Ensembl:ENST00000300107) - c.1238C>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1193507633 | 414 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155762T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155762T>C Locations: - p.Asn414Ser (Ensembl:ENST00000300107) - c.1241A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs769306600 | 415 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65155760T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155760T>C Locations: - p.Ile415Val (Ensembl:ENST00000300107) - c.1243A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1255974750 | 416 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65155757G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155757G>T Locations: - p.Leu416Met (Ensembl:ENST00000300107) - c.1246C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs781102222 | 417 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155752A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155752A>C Locations: - p.Phe417Leu (Ensembl:ENST00000300107) - c.1251T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1306898547 | 418 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155751C>G, NC_000015.10:g.65155751C>A Codon: GTG/CTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155751C>G, NC_000015.10:g.65155751C>A Locations: - p.Val418Leu (Ensembl:ENST00000300107) - c.1252G>C (Ensembl:ENST00000300107) - c.1252G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087781689 | 419 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155748C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155748C>T Locations: - p.Ala419Thr (Ensembl:ENST00000300107) - c.1255G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087781633 | 419 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155747G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155747G>A Locations: - p.Ala419Val (Ensembl:ENST00000300107) - c.1256C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2140614697 | 421 | G>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155742C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155742C>A Locations: - p.Gly421Cys (Ensembl:ENST00000300107) - c.1261G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087781531 | 421 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155741C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155741C>T Locations: - p.Gly421Asp (Ensembl:ENST00000300107) - c.1262G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs754958321 | 423 | F>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155736A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155736A>C Locations: - p.Phe423Val (Ensembl:ENST00000300107) - c.1267T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs147893822 | 424 | N>I | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000015.10:g.65155732T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155732T>A Locations: - p.Asn424Ile (Ensembl:ENST00000300107) - c.1271A>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs147893822 | 424 | N>S | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.411) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000015.10:g.65155732T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155732T>C Locations: - p.Asn424Ser (Ensembl:ENST00000300107) - c.1271A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087781331 | 425 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155729C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155729C>T Locations: - p.Gly425Asp (Ensembl:ENST00000300107) - c.1274G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087781219 | 427 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65155724C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155724C>T Locations: - p.Asp427Asn (Ensembl:ENST00000300107) - c.1279G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1018336093 | 428 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155721T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155721T>C Locations: - p.Arg428Gly (Ensembl:ENST00000300107) - c.1282A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 428 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000015.10:g.65155720C>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155720C>T Locations: - c.1283G>A (NCI-TCGA:ENST00000300107) - p.R428K (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1465519407 | 428 | R>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155720C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155720C>G Locations: - p.Arg428Thr (Ensembl:ENST00000300107) - c.1283G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087781003 | 430 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155714A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155714A>C Locations: - p.Ile430Ser (Ensembl:ENST00000300107) - c.1289T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1324061422 | 431 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.861) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65155711C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155711C>T Locations: - p.Ser431Asn (Ensembl:ENST00000300107) - c.1292G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087780829 | 432 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65155709T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155709T>C Locations: - p.Arg432Gly (Ensembl:ENST00000300107) - c.1294A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs144638772 | 437 | K>E | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155694T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155694T>C Locations: - p.Lys437Glu (Ensembl:ENST00000300107) - c.1309A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
TCGA novel | 439 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000015.10:g.65155078G>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155078G>T Locations: - c.1315C>A (NCI-TCGA:ENST00000300107) - p.L439I (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1165114424 | 442 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65155068C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155068C>G Locations: - p.Gly442Ala (Ensembl:ENST00000300107) - c.1325G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1165114424 | 442 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65155068C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155068C>T Locations: - p.Gly442Glu (Ensembl:ENST00000300107) - c.1325G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs778028615 | 442 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65155069C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155069C>T Locations: - p.Gly442Arg (Ensembl:ENST00000300107) - c.1324G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1165114424 | 442 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155068C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155068C>A Locations: - p.Gly442Val (Ensembl:ENST00000300107) - c.1325G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs112513983 | 443 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000015.10:g.65155066T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155066T>C Locations: - p.Thr443Ala (Ensembl:ENST00000300107) - c.1327A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1444831101 | 443 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000015.10:g.65155065G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155065G>A Locations: - p.Thr443Ile (Ensembl:ENST00000300107) - c.1328C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1386298411 | 444 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65155062G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155062G>C Locations: - p.Pro444Arg (Ensembl:ENST00000300107) - c.1331C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 445 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65155059G>C Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155059G>C Locations: - c.1334C>G (NCI-TCGA:ENST00000300107) - p.S445C (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs753157584 | 445 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000015.10:g.65155060A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155060A>T Locations: - p.Ser445Thr (Ensembl:ENST00000300107) - c.1333T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087769964 | 446 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000015.10:g.65155057T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155057T>C Locations: - p.Asn446Asp (Ensembl:ENST00000300107) - c.1336A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087769906 | 446 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000015.10:g.65155056T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155056T>G Locations: - p.Asn446Thr (Ensembl:ENST00000300107) - c.1337A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs551962246 | 448 | G>E | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000015.10:g.65155050C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155050C>T Locations: - p.Gly448Glu (Ensembl:ENST00000300107) - c.1343G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1205778727 | 448 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65155051C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155051C>T Locations: - p.Gly448Arg (Ensembl:ENST00000300107) - c.1342G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087769763 | 449 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000015.10:g.65155047T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155047T>C Locations: - p.Lys449Arg (Ensembl:ENST00000300107) - c.1346A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087769667 | 453 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.571) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65155035G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155035G>A Locations: - p.Ala453Val (Ensembl:ENST00000300107) - c.1358C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs764840084 | 454 | A>V | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.471) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000015.10:g.65155032G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155032G>A Locations: - p.Ala454Val (Ensembl:ENST00000300107) - c.1361C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2140613339 | 456 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65155027C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155027C>G Locations: - p.Ala456Pro (Ensembl:ENST00000300107) - c.1366G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55644535 | 457 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000015.10:g.65155023G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155023G>A Locations: - c.1370C>T (NCI-TCGA:ENST00000300107) - p.A457V (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1459129193 | 458 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65155019G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155019G>T Locations: - p.Asp458Glu (Ensembl:ENST00000300107) - c.1374C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1032925425 | 458 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.438) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65155020T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155020T>C Locations: - p.Asp458Gly (Ensembl:ENST00000300107) - c.1373A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087769359 | 458 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65155021C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155021C>T Locations: - p.Asp458Asn (Ensembl:ENST00000300107) - c.1372G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs199752289 | 459 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: tolerated (0.16) - PolyPhen: probably damaging (0.922) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) - MAF: 0.000196232 (1000Genomes) Accession: NC_000015.10:g.65155018G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155018G>A Locations: - p.L459F (NCI-TCGA:ENST00000300107) - p.Leu459Phe (Ensembl:ENST00000300107) - c.1375C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs776072567 | 460 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000015.10:g.65155014G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155014G>T Locations: - p.Ala460Asp (Ensembl:ENST00000300107) - c.1379C>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs776072567 | 460 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.837) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65155014G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155014G>C Locations: - p.Ala460Gly (Ensembl:ENST00000300107) - c.1379C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs979498280 | 460 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65155015C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155015C>T Locations: - p.Ala460Thr (Ensembl:ENST00000300107) - c.1378G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs776072567 | 460 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.417) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000015.10:g.65155014G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155014G>A Locations: - p.Ala460Val (Ensembl:ENST00000300107) - c.1379C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1221868052 | 461 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.536) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000015.10:g.65155012T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155012T>C Locations: - p.Asn461Asp (Ensembl:ENST00000300107) - c.1381A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1375186907 | 462 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65155009G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155009G>A Locations: - p.Arg462Ter (Ensembl:ENST00000300107) - c.1384C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs140689028 | 462 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000015.10:g.65155008C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65155008C>T Locations: - p.Arg462Gln (Ensembl:ENST00000300107) - c.1385G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs775288540 | 466 | S>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000015.10:g.65154996G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154996G>A Locations: - p.Ser466Leu (Ensembl:ENST00000300107) - c.1397C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs775288540 | 466 | S>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.716) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65154996G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154996G>C Locations: - p.Ser466Trp (Ensembl:ENST00000300107) - c.1397C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1221472214 | 467 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000015.10:g.65154994T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154994T>C Locations: - p.Asn467Asp (Ensembl:ENST00000300107) - c.1399A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087768764 | 468 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000015.10:g.65154990G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154990G>A Locations: - p.Thr468Ile (Ensembl:ENST00000300107) - c.1403C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2140613209 | 469 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000015.10:g.65154987T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154987T>C Locations: - p.His469Arg (Ensembl:ENST00000300107) - c.1406A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087768563 | 470 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000015.10:g.65154985G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154985G>C Locations: - p.Gln470Glu (Ensembl:ENST00000300107) - c.1408C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 472 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000015.10:g.65154978A>G Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154978A>G Locations: - c.1415T>C (NCI-TCGA:ENST00000300107) - p.I472T (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1156407418 | 475 | K>R | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000015.10:g.65154969T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154969T>C Locations: - p.Lys475Arg (Ensembl:ENST00000300107) - c.1424A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087768115 | 476 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65154966T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154966T>A Locations: - p.Asp476Val (Ensembl:ENST00000300107) - c.1427A>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs771233943 | 477 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65154964G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154964G>C Locations: - p.Arg477Gly (Ensembl:ENST00000300107) - c.1429C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs751694766 | 477 | R>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65154963C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154963C>A Locations: - p.Arg477Leu (Ensembl:ENST00000300107) - c.1430G>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs751694766 | 477 | R>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000015.10:g.65154963C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154963C>T Locations: - p.Arg477Gln (Ensembl:ENST00000300107) - c.1430G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
COSV55643686 rs771233943 | 477 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001591 (gnomAD) Accession: NC_000015.10:g.65154964G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154964G>A Locations: - p.R477W (NCI-TCGA:ENST00000300107) - p.Arg477Trp (Ensembl:ENST00000300107) - c.1429C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs777939567 | 480 | R>C | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65154955G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154955G>A Locations: - p.Arg480Cys (Ensembl:ENST00000300107) - c.1438C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55644445 rs756151231 | 480 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.82) - SIFT: deleterious (0.03) - PolyPhen: possibly damaging (0.817) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00001988 (gnomAD) Accession: NC_000015.10:g.65154954C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154954C>T Locations: - p.R480H (NCI-TCGA:ENST00000300107) - p.Arg480His (Ensembl:ENST00000300107) - c.1439G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087767713 | 481 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000015.10:g.65154951T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154951T>C Locations: - p.His481Arg (Ensembl:ENST00000300107) - c.1442A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087767586 | 484 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65154943C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154943C>T Locations: - p.Ala484Thr (Ensembl:ENST00000300107) - c.1450G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1285598674 | 485 | R>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65154939C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154939C>A Locations: - p.Arg485Ile (Ensembl:ENST00000300107) - c.1454G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs867709126 | 486 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65154937C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154937C>G Locations: - p.Asp486His (Ensembl:ENST00000300107) - c.1456G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs781537590 | 487 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65154933A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154933A>G Locations: - p.Leu487Pro (Ensembl:ENST00000300107) - c.1460T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
VAR_048826 RCV002153123 rs35754835 | 488 | I>T | Variant of uncertain significance (Ensembl) | UniProt ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0008 (ClinVar) - MAF: 0.000784929 (1000Genomes) Accession: NC_000015.10:g.65154930A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154930A>G Locations: - p.Ile488Thr (UniProt:O76031) Source type: mixed | |||||||
rs2087767121 | 490 | F>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65154925A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154925A>C Locations: - p.Phe490Val (Ensembl:ENST00000300107) - c.1468T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs766752536 | 492 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.416) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000015.10:g.65154919T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154919T>G Locations: - p.Met492Leu (Ensembl:ENST00000300107) - c.1474A>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
COSV100269430 | 494 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000015.10:g.65154913G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154913G>A Locations: - c.1480C>T (NCI-TCGA:ENST00000300107) - p.P494S (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs753494621 | 496 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.679) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65154905A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154905A>T Locations: - p.Phe496Leu (Ensembl:ENST00000300107) - c.1488T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269558 | 498 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000015.10:g.65154901C>A Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154901C>A Locations: - c.1492G>T (NCI-TCGA:ENST00000300107) - p.G498* (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1286789415 | 500 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65154895A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154895A>C Locations: - p.Leu500Val (Ensembl:ENST00000300107) - c.1498T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087766829 | 501 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65154892G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154892G>A Locations: - p.Pro501Ser (Ensembl:ENST00000300107) - c.1501C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087766796 | 504 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65154882A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154882A>G Locations: - p.Val504Ala (Ensembl:ENST00000300107) - c.1511T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1432421136 | 505 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65154880G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154880G>A Locations: - p.Pro505Ser (Ensembl:ENST00000300107) - c.1513C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs141503742 | 507 | H>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.757) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65154873T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154873T>C Locations: - p.His507Arg (Ensembl:ENST00000300107) - c.1520A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
TCGA novel | 507 | H>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000015.10:g.65154862_65154874del Consequence type: frameshift Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154862_65154874del Locations: - c.1519_1531del (NCI-TCGA:ENST00000300107) - p.H507Rfs*8 (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2087766605 | 510 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.539) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65154864T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154864T>C Locations: - p.Asp510Gly (Ensembl:ENST00000300107) - c.1529A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs760093032 | 510 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65154865C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154865C>G Locations: - p.Asp510His (Ensembl:ENST00000300107) - c.1528G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs930316852 | 511 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65154862C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154862C>T Locations: - p.Glu511Lys (Ensembl:ENST00000300107) - c.1531G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs930316852 | 511 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000015.10:g.65154862C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154862C>G Locations: - p.Glu511Gln (Ensembl:ENST00000300107) - c.1531G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs775118209 | 512 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65154858T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154858T>C Locations: - p.Lys512Arg (Ensembl:ENST00000300107) - c.1535A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs775118209 | 512 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000015.10:g.65154858T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154858T>G Locations: - p.Lys512Thr (Ensembl:ENST00000300107) - c.1535A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1486957369 | 521 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65154832G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154832G>A Locations: - p.Pro521Ser (Ensembl:ENST00000300107) - c.1561C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087766206 | 522 | R>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65154829G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154829G>A Locations: - p.Arg522Ter (Ensembl:ENST00000300107) - c.1564C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs148226354 | 522 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000015.10:g.65154828C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154828C>T Locations: - p.Arg522Gln (Ensembl:ENST00000300107) - c.1565G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2087766122 | 523 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65154825T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154825T>C Locations: - p.Asn523Ser (Ensembl:ENST00000300107) - c.1568A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55644794 | 524 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000015.10:g.65154822G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154822G>A Locations: - c.1571C>T (NCI-TCGA:ENST00000300107) - p.A524V (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1209156814 | 525 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000015.10:g.65154820C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154820C>G Locations: - p.Val525Leu (Ensembl:ENST00000300107) - c.1573G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087766021 | 527 | P>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65154813G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154813G>T Locations: - p.Pro527His (Ensembl:ENST00000300107) - c.1580C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087766021 | 527 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.529) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65154813G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154813G>C Locations: - p.Pro527Arg (Ensembl:ENST00000300107) - c.1580C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs774236257 | 527 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65154814G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154814G>T Locations: - p.Pro527Thr (Ensembl:ENST00000300107) - c.1579C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 530 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65154803C>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154803C>A Locations: - c.1590G>T (NCI-TCGA:ENST00000300107) - p.Q530H (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2087765950 | 530 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65154804T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154804T>C Locations: - p.Gln530Arg (Ensembl:ENST00000300107) - c.1589A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs770859993 | 531 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000015.10:g.65154802C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154802C>T Locations: - p.Ala531Thr (Ensembl:ENST00000300107) - c.1591G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1223989293 | 532 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65154799A>C Codon: TTA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154799A>C Locations: - p.Leu532Val (Ensembl:ENST00000300107) - c.1594T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs111784082 | 534 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65154793T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154793T>A Locations: - p.Ser534Cys (Ensembl:ENST00000300107) - c.1600A>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs111784082 | 534 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000015.10:g.65154793T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154793T>C Locations: - p.Ser534Gly (Ensembl:ENST00000300107) - c.1600A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1231575545 | 536 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65154786T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154786T>C Locations: - p.Asp536Gly (Ensembl:ENST00000300107) - c.1607A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1293210836 | 536 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65154787C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154787C>A Locations: - p.Asp536Tyr (Ensembl:ENST00000300107) - c.1606G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087765699 | 537 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65154784T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65154784T>C Locations: - p.Lys537Glu (Ensembl:ENST00000300107) - c.1609A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 538 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65153638C>T Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153638C>T Locations: - c.1613G>A (NCI-TCGA:ENST00000300107) - p.C538Y (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs774432272 | 539 | E>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.196) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65153636C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153636C>T Locations: - p.Glu539Lys (Ensembl:ENST00000300107) - c.1615G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1405406030 | 540 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65153632A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153632A>G Locations: - p.Leu540Pro (Ensembl:ENST00000300107) - c.1619T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087752362 | 542 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000015.10:g.65153627C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153627C>T Locations: - p.Val542Ile (Ensembl:ENST00000300107) - c.1624G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs766490296 | 545 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000015.10:g.65153618C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153618C>T Locations: - p.Asp545Asn (Ensembl:ENST00000300107) - c.1633G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087752237 | 548 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000015.10:g.65153607T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153607T>G Locations: - p.Lys548Asn (Ensembl:ENST00000300107) - c.1644A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1454040831 | 548 | K>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000015.10:g.65153608T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153608T>G Locations: - p.Lys548Thr (Ensembl:ENST00000300107) - c.1643A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs774210802 | 549 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000015.10:g.65153606C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153606C>T Locations: - p.Ala549Thr (Ensembl:ENST00000300107) - c.1645G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087752135 | 550 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000015.10:g.65153603T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153603T>C Locations: - p.Ile550Val (Ensembl:ENST00000300107) - c.1648A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1396408056 | 551 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65153599G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153599G>A Locations: - p.Ala551Val (Ensembl:ENST00000300107) - c.1652C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 552 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000015.10:g.65153596C>G Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153596C>G Locations: - c.1655G>C (NCI-TCGA:ENST00000300107) - p.R552T (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2140611077 | 554 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65153591C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153591C>A Locations: - p.Ala554Ser (Ensembl:ENST00000300107) - c.1660G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1302386824 | 554 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65153590G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153590G>A Locations: - p.Ala554Val (Ensembl:ENST00000300107) - c.1661C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1463603693 | 556 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.181) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65153584T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153584T>G Locations: - p.Glu556Ala (Ensembl:ENST00000300107) - c.1667A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55646258 rs773190880 | 557 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001256 (gnomAD) Accession: NC_000015.10:g.65153582G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153582G>A Locations: - p.R557* (NCI-TCGA:ENST00000300107) - p.Arg557Ter (Ensembl:ENST00000300107) - c.1669C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55644217 rs769874820 | 557 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.384) - SIFT: tolerated (0.05) - PolyPhen: benign (0.38) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000004182 (gnomAD) Accession: NC_000015.10:g.65153581C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153581C>T Locations: - p.R557Q (NCI-TCGA:ENST00000300107) - p.Arg557Gln (Ensembl:ENST00000300107) - c.1670G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1157207613 | 561 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65153569G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153569G>C Locations: - p.Ala561Gly (Ensembl:ENST00000300107) - c.1682C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs748425525 | 561 | A>T | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65153570C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153570C>T Locations: - p.Ala561Thr (Ensembl:ENST00000300107) - c.1681G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs768787879 | 562 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.65153567G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153567G>A Locations: - p.Arg562Ter (Ensembl:ENST00000300107) - c.1684C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2087751283 | 563 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65153563C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153563C>G Locations: - p.Gly563Ala (Ensembl:ENST00000300107) - c.1688G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs747160238 | 563 | G>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65153564C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153564C>A Locations: - p.Gly563Cys (Ensembl:ENST00000300107) - c.1687G>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs747160238 | 563 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65153564C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153564C>T Locations: - p.Gly563Ser (Ensembl:ENST00000300107) - c.1687G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs770495927 | 565 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65153557C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153557C>T Locations: - p.Arg565Gln (Ensembl:ENST00000300107) - c.1694G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs200158367 | 565 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000015.10:g.65153558G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153558G>A Locations: - p.R565W (NCI-TCGA:ENST00000300107) - p.Arg565Trp (Ensembl:ENST00000300107) - c.1693C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs755669762 | 567 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65153550T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153550T>C Locations: - p.Ile567Met (Ensembl:ENST00000300107) - c.1701A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs779362113 | 567 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65153552T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153552T>C Locations: - p.Ile567Val (Ensembl:ENST00000300107) - c.1699A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs752405975 | 568 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65153549T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65153549T>C Locations: - p.Met568Val (Ensembl:ENST00000300107) - c.1702A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087735540 | 573 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65152523A>T Codon: CTA/CAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152523A>T Locations: - p.Leu573Gln (Ensembl:ENST00000300107) - c.1718T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 575 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.449) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000015.10:g.65152518G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152518G>A Locations: - c.1723C>T (NCI-TCGA:ENST00000300107) - p.P575S (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1330422852 | 576 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65152514A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152514A>G Locations: - p.Met576Thr (Ensembl:ENST00000300107) - c.1727T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087735242 | 576 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65152515T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152515T>C Locations: - p.Met576Val (Ensembl:ENST00000300107) - c.1726A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087735143 | 578 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65152509C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152509C>T Locations: - p.Glu578Lys (Ensembl:ENST00000300107) - c.1732G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2140609216 | 579 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000015.10:g.65152505A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152505A>G Locations: - p.Val579Ala (Ensembl:ENST00000300107) - c.1736T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1347416742 | 580 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65152502G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152502G>T Locations: - p.Pro580His (Ensembl:ENST00000300107) - c.1739C>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1381828991 | 583 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65152493T>G Codon: GAT/GCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152493T>G Locations: - p.Asp583Ala (Ensembl:ENST00000300107) - c.1748A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087734900 | 583 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65152494C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152494C>G Locations: - p.Asp583His (Ensembl:ENST00000300107) - c.1747G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs929360264 | 584 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65152491T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152491T>G Locations: - p.Ile584Leu (Ensembl:ENST00000300107) - c.1750A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs746392430 | 585 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000015.10:g.65152488C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152488C>T Locations: - p.Val585Ile (Ensembl:ENST00000300107) - c.1753G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs749678591 | 586 | C>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000015.10:g.65152485A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152485A>G Locations: - p.Cys586Arg (Ensembl:ENST00000300107) - c.1756T>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2087734507 | 586 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000015.10:g.65152484C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152484C>T Locations: - p.Cys586Tyr (Ensembl:ENST00000300107) - c.1757G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs780883206 | 587 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65152481A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152481A>G Locations: - p.Val587Ala (Ensembl:ENST00000300107) - c.1760T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs751082671 | 588 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000015.10:g.65152477C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152477C>G Locations: - p.Glu588Asp (Ensembl:ENST00000300107) - c.1764G>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs568339243 | 588 | E>V | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated (0.33) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000015.10:g.65152478T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152478T>A Locations: - p.Glu588Val (Ensembl:ENST00000300107) - c.1763A>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087734313 | 589 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (1) Somatic: No Accession: NC_000015.10:g.65152476C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152476C>T Locations: - p.Val589Ile (Ensembl:ENST00000300107) - c.1765G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs758353237 | 591 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000015.10:g.65152470T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152470T>C Locations: - p.Lys591Glu (Ensembl:ENST00000300107) - c.1771A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs758353237 | 591 | K>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65152470T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152470T>G Locations: - p.Lys591Gln (Ensembl:ENST00000300107) - c.1771A>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1228243906 | 591 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000015.10:g.65152469T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152469T>G Locations: - p.Lys591Thr (Ensembl:ENST00000300107) - c.1772A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs750379547 | 592 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000015.10:g.65152466T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152466T>C Locations: - p.Glu592Gly (Ensembl:ENST00000300107) - c.1775A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs1318831375 | 592 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65152467C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152467C>T Locations: - p.Glu592Lys (Ensembl:ENST00000300107) - c.1774G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269560 rs1318831375 | 592 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.09) - PolyPhen: benign (0.024) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000015.10:g.65152467C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152467C>G Locations: - p.E592Q (NCI-TCGA:ENST00000300107) - p.Glu592Gln (Ensembl:ENST00000300107) - c.1774G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1207264257 | 593 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000015.10:g.65152463A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152463A>G Locations: - p.Val593Ala (Ensembl:ENST00000300107) - c.1778T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1207264257 | 593 | V>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.193) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65152463A>T Codon: GTA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152463A>T Locations: - p.Val593Glu (Ensembl:ENST00000300107) - c.1778T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs960414586 | 594 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65152460A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152460A>G Locations: - p.Val594Ala (Ensembl:ENST00000300107) - c.1781T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs960414586 | 594 | V>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65152460A>T Codon: GTA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152460A>T Locations: - p.Val594Glu (Ensembl:ENST00000300107) - c.1781T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1465582116 | 594 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000015.10:g.65152461C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152461C>T Locations: - p.Val594Ile (Ensembl:ENST00000300107) - c.1780G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1222175683 | 595 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000015.10:g.65152458C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152458C>T Locations: - p.Glu595Lys (Ensembl:ENST00000300107) - c.1783G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1227046747 | 596 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65152454C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152454C>T Locations: - p.Gly596Glu (Ensembl:ENST00000300107) - c.1787G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1275486273 | 596 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65152455C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152455C>T Locations: - p.Gly596Arg (Ensembl:ENST00000300107) - c.1786G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs753628258 | 597 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000015.10:g.65152452T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152452T>C Locations: - p.Lys597Glu (Ensembl:ENST00000300107) - c.1789A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1382587479 | 598 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000015.10:g.65152449T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152449T>C Locations: - p.Lys598Glu (Ensembl:ENST00000300107) - c.1792A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2140609050 | 598 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65152448T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152448T>C Locations: - p.Lys598Arg (Ensembl:ENST00000300107) - c.1793A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087733467 | 600 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.495) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000015.10:g.65152443G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152443G>C Locations: - p.Pro600Ala (Ensembl:ENST00000300107) - c.1798C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1006264720 | 601 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000015.10:g.65152439C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152439C>G Locations: - p.Gly601Ala (Ensembl:ENST00000300107) - c.1802G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1006264720 | 601 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000015.10:g.65152439C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152439C>T Locations: - p.Gly601Glu (Ensembl:ENST00000300107) - c.1802G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
TCGA novel | 602 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65152436T>C Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152436T>C Locations: - c.1805A>G (NCI-TCGA:ENST00000300107) - p.Y602C (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs764272247 | 603 | I>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.587) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65152433A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152433A>T Locations: - p.Ile603Asn (Ensembl:ENST00000300107) - c.1808T>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs775502558 | 604 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65152431G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152431G>C Locations: - p.Arg604Gly (Ensembl:ENST00000300107) - c.1810C>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2087733196 | 604 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000015.10:g.65152430C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152430C>T Locations: - p.Arg604Gln (Ensembl:ENST00000300107) - c.1811G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs775502558 | 604 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65152431G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65152431G>A Locations: - p.Arg604Trp (Ensembl:ENST00000300107) - c.1810C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs16948530 | 605 | A>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65150912C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150912C>G Locations: - p.Ala605Pro (Ensembl:ENST00000300107) - c.1813G>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs16948530 | 605 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000015.10:g.65150912C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150912C>T Locations: - p.Ala605Thr (Ensembl:ENST00000300107) - c.1813G>A (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2140606305 | 606 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65150908G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150908G>A Locations: - p.Pro606Leu (Ensembl:ENST00000300107) - c.1817C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1446757649 | 606 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000015.10:g.65150909G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150909G>A Locations: - p.Pro606Ser (Ensembl:ENST00000300107) - c.1816C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087711429 | 607 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000015.10:g.65150905G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150905G>A Locations: - p.Thr607Ile (Ensembl:ENST00000300107) - c.1820C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269425 | 609 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000015.10:g.65150900C>A Consequence type: stop gained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150900C>A Locations: - c.1825G>T (NCI-TCGA:ENST00000300107) - p.E609* (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs267604288 | 610 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000015.10:g.65150896G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150896G>A Locations: - p.Ser610Phe (Ensembl:ENST00000300107) - c.1829C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55643068 | 611 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000015.10:g.65150893G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150893G>A Locations: - c.1832C>T (NCI-TCGA:ENST00000300107) - p.S611F (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs763903595 | 611 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000015.10:g.65150894A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150894A>G Locations: - p.Ser611Pro (Ensembl:ENST00000300107) - c.1831T>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs760825285 | 612 | E>K | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000015.10:g.65150891C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150891C>T Locations: - p.Glu612Lys (Ensembl:ENST00000300107) - c.1834G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs142389897 | 614 | E>G | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000015.10:g.65150884T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150884T>C Locations: - p.Glu614Gly (Ensembl:ENST00000300107) - c.1841A>G (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs2087711174 | 615 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000015.10:g.65150881T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150881T>C Locations: - p.Tyr615Cys (Ensembl:ENST00000300107) - c.1844A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs767790853 | 618 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000015.10:g.65150872C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150872C>G Locations: - p.Gly618Ala (Ensembl:ENST00000300107) - c.1853G>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1358981997 | 620 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65150866T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150866T>C Locations: - p.Glu620Gly (Ensembl:ENST00000300107) - c.1859A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2140606225 | 620 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000015.10:g.65150867C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150867C>T Locations: - p.Glu620Lys (Ensembl:ENST00000300107) - c.1858G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV55645876 | 621 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000015.10:g.65150862T>G Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150862T>G Locations: - c.1863A>C (NCI-TCGA:ENST00000300107) - p.E621D (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2087711021 | 622 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious (0) Somatic: No Accession: NC_000015.10:g.65150860T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150860T>C Locations: - p.Glu622Gly (Ensembl:ENST00000300107) - c.1865A>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1269688101 | 623 | G>E | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000015.10:g.65150857C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150857C>T Locations: - p.Gly623Glu (Ensembl:ENST00000300107) - c.1868G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1595934791 | 623 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000015.10:g.65150858C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150858C>T Locations: - p.Gly623Arg (Ensembl:ENST00000300107) - c.1867G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1208836573 | 625 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000015.10:g.65150851G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150851G>A Locations: - p.Pro625Leu (Ensembl:ENST00000300107) - c.1874C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1247916303 | 625 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000015.10:g.65150852G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150852G>A Locations: - p.Pro625Ser (Ensembl:ENST00000300107) - c.1873C>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs759645120 | 626 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.546) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.65150849G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150849G>A Locations: - p.Arg626Cys (Ensembl:ENST00000300107) - c.1876C>T (Ensembl:ENST00000300107) Source type: large scale study | |||||||
rs774340997 | 626 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.304) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.65150848C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150848C>T Locations: - p.Arg626His (Ensembl:ENST00000300107) - c.1877G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs774340997 | 626 | R>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.65150848C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150848C>A Locations: - p.Arg626Leu (Ensembl:ENST00000300107) - c.1877G>T (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1193015059 | 627 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000015.10:g.65150844T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150844T>G Locations: - p.Gln627His (Ensembl:ENST00000300107) - c.1881A>C (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs771435902 | 629 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000015.10:g.65150838A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150838A>C Locations: - p.Asp629Glu (Ensembl:ENST00000300107) - c.1887T>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1290358075 | 629 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000015.10:g.65150840C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150840C>T Locations: - p.Asp629Asn (Ensembl:ENST00000300107) - c.1885G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
COSV100269713 | 630 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated - low confidence (0.07) Somatic: Yes Accession: NC_000015.10:g.65150836G>A Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150836G>A Locations: - c.1889C>T (NCI-TCGA:ENST00000300107) - p.A630V (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs763400677 | 631 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000015.10:g.65150834C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150834C>T Locations: - p.Ala631Thr (Ensembl:ENST00000300107) - c.1891G>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs770287552 | 632 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000015.10:g.65150829G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150829G>C Locations: - p.Asn632Lys (Ensembl:ENST00000300107) - c.1896C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs2140606129 | 633 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.65150826G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150826G>C Locations: - p.Ser633Arg (Ensembl:ENST00000300107) - c.1899C>G (Ensembl:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs368753744 | 633 | S>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000015.10:g.65150827C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150827C>G Locations: - p.Ser633Thr (Ensembl:ENST00000300107) - c.1898G>C (Ensembl:ENST00000300107) Source type: large scale study | |||||||
COSV55645731 | 634 | *>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop retained Somatic: Yes Accession: NC_000015.10:g.65150824T>C Consequence type: stop retained Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150824T>C Locations: - c.1901A>G (NCI-TCGA:ENST00000300107) - p.*634= (NCI-TCGA:ENST00000300107) Source type: large scale study Cross-references: | |||||||
rs1363338754 | 634 | *>K | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000015.10:g.65150825A>T Codon: TAA/AAA Consequence type: stop lost Cytogenetic band: 15q22.31 Genomic location: NC_000015.10:g.65150825A>T Locations: - p.Ter634LysextTer19 (Ensembl:ENST00000300107) - c.1900T>A (Ensembl:ENST00000300107) Source type: large scale study Cross-references: |