A8MZG2 · CP090_HUMAN
- ProteinUncharacterized protein C16orf90
- GeneC16orf90
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids182 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1176402636 | 3 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3495414G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495414G>A Locations: - p.Ala3Val (Ensembl:ENST00000437192) - c.8C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs767978018 | 4 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3495410C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495410C>G Locations: - p.Leu4Phe (Ensembl:ENST00000437192) - c.12G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs752109942 | 5 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000016.10:g.3495408A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495408A>G Locations: - p.Val5Ala (Ensembl:ENST00000437192) - c.14T>C (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs760186760 | 5 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3495409C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495409C>T Locations: - p.Val5Ile (Ensembl:ENST00000437192) - c.13G>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs910517898 | 6 | C>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3495404A>T Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495404A>T Locations: - p.Cys6Ter (Ensembl:ENST00000437192) - c.18T>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs573681049 | 6 | C>Y | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000016.10:g.3495405C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495405C>T Locations: - p.Cys6Tyr (Ensembl:ENST00000437192) - c.17G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037294909 | 7 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.416) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3495403C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495403C>G Locations: - p.Ala7Pro (Ensembl:ENST00000437192) - c.19G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1234961455 | 7 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3495402G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495402G>A Locations: - p.Ala7Val (Ensembl:ENST00000437192) - c.20C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1262416942 | 10 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3495393T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495393T>G Locations: - p.Glu10Ala (Ensembl:ENST00000437192) - c.29A>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1319701618 | 11 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3495390A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495390A>T Locations: - p.Leu11Gln (Ensembl:ENST00000437192) - c.32T>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2151032806 | 12 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.3495387T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495387T>C Locations: - p.His12Arg (Ensembl:ENST00000437192) - c.35A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037294652 | 12 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3495388G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495388G>A Locations: - p.His12Tyr (Ensembl:ENST00000437192) - c.34C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs770040336 | 13 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.539) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3495383T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495383T>C Locations: - p.Ile13Met (Ensembl:ENST00000437192) - c.39A>G (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs201278369 | 13 | I>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000016.10:g.3495385T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495385T>C Locations: - p.Ile13Val (Ensembl:ENST00000437192) - c.37A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1479148688 | 14 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.3495382T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495382T>C Locations: - p.Arg14Gly (Ensembl:ENST00000437192) - c.40A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs933366046 | 14 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3495381C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495381C>T Locations: - p.Arg14Lys (Ensembl:ENST00000437192) - c.41G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs933366046 | 14 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3495381C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495381C>G Locations: - p.Arg14Thr (Ensembl:ENST00000437192) - c.41G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1308662393 | 15 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.397) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3495378T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495378T>C Locations: - p.Glu15Gly (Ensembl:ENST00000437192) - c.44A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1026341504 | 15 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.222) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3495379C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495379C>T Locations: - p.Glu15Lys (Ensembl:ENST00000437192) - c.43G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1404778329 | 16 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3495376C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3495376C>T Locations: - p.Asp16Asn (Ensembl:ENST00000437192) - c.46G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1032144080 | 17 | A>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.755) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000016.10:g.3494874G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494874G>T Locations: - p.Ala17Glu (Ensembl:ENST00000437192) - c.50C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1325895252 | 18 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494872C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494872C>T Locations: - p.Val18Met (Ensembl:ENST00000437192) - c.52G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037285727 | 19 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.707) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494869T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494869T>G Locations: - p.Ser19Arg (Ensembl:ENST00000437192) - c.55A>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs760549913 | 21 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494863C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494863C>A Locations: - p.Ala21Ser (Ensembl:ENST00000437192) - c.61G>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs760549913 | 21 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3494863C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494863C>T Locations: - p.Ala21Thr (Ensembl:ENST00000437192) - c.61G>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs373149683 | 22 | Q>R | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.3494859T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494859T>C Locations: - p.Gln22Arg (Ensembl:ENST00000437192) - c.65A>G (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs2151032305 | 23 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494856C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494856C>G Locations: - p.Gly23Ala (Ensembl:ENST00000437192) - c.68G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1421584316 | 23 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494857C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494857C>T Locations: - p.Gly23Arg (Ensembl:ENST00000437192) - c.67G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs370106792 | 24 | R>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000016.10:g.3494854G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494854G>A Locations: - p.Arg24Cys (Ensembl:ENST00000437192) - c.70C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1329730003 | 24 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.3494853C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494853C>T Locations: - p.Arg24His (Ensembl:ENST00000437192) - c.71G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1700884904 | 26 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3494847C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494847C>T Locations: - p.Gly26Asp (Ensembl:ENST00000437192) - c.77G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs372652628 | 26 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.727) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3494848C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494848C>G Locations: - p.Gly26Arg (Ensembl:ENST00000437192) - c.76G>C (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs372652628 | 26 | G>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.3494848C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494848C>T Locations: - p.Gly26Ser (Ensembl:ENST00000437192) - c.76G>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs1596376086 | 27 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494844T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494844T>G Locations: - p.His27Pro (Ensembl:ENST00000437192) - c.80A>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs770569603 | 27 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3494845G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494845G>A Locations: - p.His27Tyr (Ensembl:ENST00000437192) - c.79C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1490142040 | 28 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.453) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.3494842G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494842G>C Locations: - p.Pro28Ala (Ensembl:ENST00000437192) - c.82C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1490142040 | 28 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.723) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494842G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494842G>T Locations: - p.Pro28Thr (Ensembl:ENST00000437192) - c.82C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
COSV68714593 rs777586445 | 30 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.00001652 (gnomAD) Accession: NC_000016.10:g.3494836C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494836C>T Locations: - p.A30T (NCI-TCGA:ENST00000437192) - p.Ala30Thr (Ensembl:ENST00000437192) - c.88G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs755678122 | 30 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.3494835G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494835G>A Locations: - p.Ala30Val (Ensembl:ENST00000437192) - c.89C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1282881149 | 31 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494833G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494833G>C Locations: - p.Pro31Ala (Ensembl:ENST00000437192) - c.91C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1324490124 | 31 | P>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494832G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494832G>T Locations: - p.Pro31His (Ensembl:ENST00000437192) - c.92C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1282881149 | 31 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.3494833G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494833G>T Locations: - p.Pro31Thr (Ensembl:ENST00000437192) - c.91C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1349075839 | 32 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000016.10:g.3494830G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494830G>A Locations: - p.Pro32Ser (Ensembl:ENST00000437192) - c.94C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1359072536 | 34 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.3494824T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494824T>C Locations: - p.Ile34Val (Ensembl:ENST00000437192) - c.100A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs747438619 | 35 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494820T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494820T>C Locations: - p.Tyr35Cys (Ensembl:ENST00000437192) - c.104A>G (Ensembl:ENST00000437192) Source type: large scale study | |||||||
COSV68714626 rs558944359 | 36 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000016.10:g.3494818C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494818C>T Locations: - p.E36K (NCI-TCGA:ENST00000437192) - p.Glu36Lys (Ensembl:ENST00000437192) - c.106G>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs765678036 | 37 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3494814C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494814C>G Locations: - p.Gly37Ala (Ensembl:ENST00000437192) - c.110G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1402031759 | 37 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.3494815C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494815C>T Locations: - p.Gly37Arg (Ensembl:ENST00000437192) - c.109G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs376341591 | 38 | G>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494812C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494812C>A Locations: - p.Gly38Cys (Ensembl:ENST00000437192) - c.112G>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1408780613 | 38 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494811C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494811C>T Locations: - p.Gly38Asp (Ensembl:ENST00000437192) - c.113G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1408780613 | 38 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494811C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494811C>A Locations: - p.Gly38Val (Ensembl:ENST00000437192) - c.113G>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1427167577 | 39 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494808A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494808A>C Locations: - p.Leu39Arg (Ensembl:ENST00000437192) - c.116T>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1427002593 | 40 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494805C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494805C>T Locations: - p.Gly40Glu (Ensembl:ENST00000437192) - c.119G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1479970905 | 40 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494806C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494806C>T Locations: - p.Gly40Arg (Ensembl:ENST00000437192) - c.118G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs767209858 | 41 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.376) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494802G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494802G>A Locations: - p.Ser41Phe (Ensembl:ENST00000437192) - c.122C>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs371798297 | 41 | S>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.268) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494803A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494803A>G Locations: - p.Ser41Pro (Ensembl:ENST00000437192) - c.121T>C (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs371798297 | 41 | S>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000016.10:g.3494803A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494803A>T Locations: - p.Ser41Thr (Ensembl:ENST00000437192) - c.121T>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs767209858 | 41 | S>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.471) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494802G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494802G>T Locations: - p.Ser41Tyr (Ensembl:ENST00000437192) - c.122C>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs577498748 | 42 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494799G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494799G>A Locations: - p.Pro42Leu (Ensembl:ENST00000437192) - c.125C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037283725 | 42 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494800G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494800G>A Locations: - p.Pro42Ser (Ensembl:ENST00000437192) - c.124C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs373862033 | 44 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000016.10:g.3494793G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494793G>A Locations: - p.Pro44Leu (Ensembl:ENST00000437192) - c.131C>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs1318789150 | 45 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3494791G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494791G>A Locations: - p.Gln45Ter (Ensembl:ENST00000437192) - c.133C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1026949423 | 45 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494790T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494790T>C Locations: - p.Gln45Arg (Ensembl:ENST00000437192) - c.134A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs996004723 | 46 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.743) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494788A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494788A>G Locations: - p.Cys46Arg (Ensembl:ENST00000437192) - c.136T>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037283288 | 46 | C>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.927) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494786G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494786G>C Locations: - p.Cys46Trp (Ensembl:ENST00000437192) - c.138C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037283242 | 47 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494784G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494784G>C Locations: - p.Pro47Arg (Ensembl:ENST00000437192) - c.140C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1238336381 | 48 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000016.10:g.3494782T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494782T>C Locations: - p.Ser48Gly (Ensembl:ENST00000437192) - c.142A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1259036740 | 49 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.369) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000016.10:g.3494779C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494779C>T Locations: - p.Ala49Thr (Ensembl:ENST00000437192) - c.145G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
COSV68714473 rs780834035 | 51 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.668) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.000008486 (gnomAD) Accession: NC_000016.10:g.3494772C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494772C>T Locations: - p.G51E (NCI-TCGA:ENST00000437192) - p.Gly51Glu (Ensembl:ENST00000437192) - c.152G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs747753694 | 51 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.0000297 (gnomAD) Accession: NC_000016.10:g.3494773C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494773C>T Locations: - p.G51R (NCI-TCGA:ENST00000437192) - p.Gly51Arg (Ensembl:ENST00000437192) - c.151G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1428719733 | 52 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3494768G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494768G>T Locations: - p.Ser52Arg (Ensembl:ENST00000437192) - c.156C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1337287101 | 54 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494764G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494764G>C Locations: - p.Pro54Ala (Ensembl:ENST00000437192) - c.160C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1337287101 | 54 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494764G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494764G>T Locations: - p.Pro54Thr (Ensembl:ENST00000437192) - c.160C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037282602 | 56 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494756G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494756G>C Locations: - p.Asn56Lys (Ensembl:ENST00000437192) - c.168C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1596375932 | 56 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494757T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494757T>G Locations: - p.Asn56Thr (Ensembl:ENST00000437192) - c.167A>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs61732404 | 57 | F>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3494753G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494753G>C Locations: - p.Phe57Leu (Ensembl:ENST00000437192) - c.171C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs937524077 | 57 | F>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494755A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494755A>C Locations: - p.Phe57Val (Ensembl:ENST00000437192) - c.169T>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs376776180 | 58 | R>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494751C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494751C>G Locations: - p.Arg58Pro (Ensembl:ENST00000437192) - c.173G>C (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs376776180 | 58 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3494751C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494751C>T Locations: - p.Arg58Gln (Ensembl:ENST00000437192) - c.173G>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs555162908 | 58 | R>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.79) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494752G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494752G>A Locations: - p.Arg58Trp (Ensembl:ENST00000437192) - c.172C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs200041850 | 60 | R>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.3494746G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494746G>A Locations: - p.Arg60Cys (Ensembl:ENST00000437192) - c.178C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs756424414 | 60 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.00002968 (gnomAD) Accession: NC_000016.10:g.3494745C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494745C>T Locations: - p.R60H (NCI-TCGA:ENST00000437192) - p.Arg60His (Ensembl:ENST00000437192) - c.179G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2151032162 | 61 | H>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494743G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494743G>T Locations: - p.His61Asn (Ensembl:ENST00000437192) - c.181C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1596375903 | 61 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494742T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494742T>G Locations: - p.His61Pro (Ensembl:ENST00000437192) - c.182A>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs371648199 | 62 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494739A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494739A>C Locations: - p.Leu62Arg (Ensembl:ENST00000437192) - c.185T>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs543343949 | 63 | R>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494737G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494737G>C Locations: - p.Arg63Gly (Ensembl:ENST00000437192) - c.187C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs561707818 | 63 | R>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.566) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494736C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494736C>G Locations: - p.Arg63Pro (Ensembl:ENST00000437192) - c.188G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs561707818 | 63 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000016.10:g.3494736C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494736C>T Locations: - p.Arg63Gln (Ensembl:ENST00000437192) - c.188G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs543343949 | 63 | R>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.796) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494737G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494737G>A Locations: - p.Arg63Trp (Ensembl:ENST00000437192) - c.187C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs538640652 | 64 | G>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.755) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.3494733C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494733C>T Locations: - p.Gly64Asp (Ensembl:ENST00000437192) - c.191G>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs538640652 | 64 | G>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494733C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494733C>A Locations: - p.Gly64Val (Ensembl:ENST00000437192) - c.191G>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs2037281531 | 67 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.3494725G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494725G>A Locations: - p.Leu67Phe (Ensembl:ENST00000437192) - c.199C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs772913095 | 68 | Y>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3494720G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494720G>T Locations: - p.Tyr68Ter (Ensembl:ENST00000437192) - c.204C>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs761332623 | 70 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494714C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494714C>G Locations: - p.Glu70Asp (Ensembl:ENST00000437192) - c.210G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs769194938 | 70 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.3494716C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494716C>G Locations: - p.Glu70Gln (Ensembl:ENST00000437192) - c.208G>C (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs776173793 | 71 | S>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.29) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494712C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494712C>A Locations: - p.Ser71Ile (Ensembl:ENST00000437192) - c.212G>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1462298563 | 72 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3494710G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494710G>T Locations: - p.His72Asn (Ensembl:ENST00000437192) - c.214C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1001140390 | 73 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3494707G>C Codon: CCG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494707G>C Locations: - p.Pro73Ala (Ensembl:ENST00000437192) - c.217C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs746271590 | 73 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000016.10:g.3494706G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494706G>A Locations: - p.Pro73Leu (Ensembl:ENST00000437192) - c.218C>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs771487680 | 75 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3494701G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494701G>C Locations: - p.Pro75Ala (Ensembl:ENST00000437192) - c.223C>G (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs771487680 | 75 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000016.10:g.3494701G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494701G>A Locations: - p.Pro75Ser (Ensembl:ENST00000437192) - c.223C>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs1182383318 | 76 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.3494698T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494698T>C Locations: - p.Thr76Ala (Ensembl:ENST00000437192) - c.226A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037280831 | 76 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494697G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494697G>A Locations: - p.Thr76Ile (Ensembl:ENST00000437192) - c.227C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1483405565 | 77 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.595) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494694C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494694C>T Locations: - p.Gly77Asp (Ensembl:ENST00000437192) - c.230G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1378243858 | 78 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3494692G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494692G>A Locations: - p.Gln78Ter (Ensembl:ENST00000437192) - c.232C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1247844637 | 78 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494690C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494690C>G Locations: - p.Gln78His (Ensembl:ENST00000437192) - c.234G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs749793805 | 78 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494691T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494691T>C Locations: - p.Gln78Arg (Ensembl:ENST00000437192) - c.233A>G (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs570771318 | 79 | C>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.743) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.3494689A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494689A>G Locations: - p.Cys79Arg (Ensembl:ENST00000437192) - c.235T>C (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs1481152269 | 80 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.284) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494684C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494684C>G Locations: - p.Glu80Asp (Ensembl:ENST00000437192) - c.240G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1567414057 | 80 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.3494685T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494685T>C Locations: - p.Glu80Gly (Ensembl:ENST00000437192) - c.239A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2151032077 | 81 | S>T | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3494702_3494703insCTCACACTGGCCAGTGGGT Codon: CCACCCACTGGCCAGTGTGAGAGC/CCACCCACTGGCCAGTGTGAGACCCACTGGCCAGTGTGAGAGC Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494702_3494703insCTCACACTGGCCAGTGGGT Locations: - p.Ser81ThrfsTer6 (Ensembl:ENST00000437192) - c.241_242insCCCACTGGCCAGTGTGAGA (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037280251 | 83 | W>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.806) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494675C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494675C>A Locations: - p.Trp83Cys (Ensembl:ENST00000437192) - c.249G>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037280292 | 83 | W>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.581) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494676C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494676C>G Locations: - p.Trp83Ser (Ensembl:ENST00000437192) - c.248G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037280208 | 85 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000016.10:g.3494671C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494671C>T Locations: - p.Gly85Ser (Ensembl:ENST00000437192) - c.253G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs752772167 | 86 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000016.10:g.3494667C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494667C>T Locations: - p.Arg86Gln (Ensembl:ENST00000437192) - c.257G>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs756159623 | 86 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.3494668G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494668G>A Locations: - p.Arg86Trp (Ensembl:ENST00000437192) - c.256C>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs370591933 | 88 | M>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494660C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494660C>T Locations: - p.Met88Ile (Ensembl:ENST00000437192) - c.264G>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs200882648 | 89 | A>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.707) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494659C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494659C>G Locations: - p.Ala89Pro (Ensembl:ENST00000437192) - c.265G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1359505230 | 90 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000016.10:g.3494655C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494655C>T Locations: - p.Gly90Glu (Ensembl:ENST00000437192) - c.269G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs763048320 | 91 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.923) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494652C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494652C>A Locations: - p.Gly91Val (Ensembl:ENST00000437192) - c.272G>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs2037279549 | 92 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.677) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494650A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494650A>G Locations: - p.Cys92Arg (Ensembl:ENST00000437192) - c.274T>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1372548334 | 92 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.3494649C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494649C>T Locations: - p.Cys92Tyr (Ensembl:ENST00000437192) - c.275G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs750343461 | 93 | L>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494646A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494646A>C Locations: - p.Leu93Arg (Ensembl:ENST00000437192) - c.278T>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2151032047 | 93 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.277) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3494647G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494647G>C Locations: - p.Leu93Val (Ensembl:ENST00000437192) - c.277C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037279382 | 95 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3494641G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494641G>A Locations: - p.Gln95Ter (Ensembl:ENST00000437192) - c.283C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037279382 | 95 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000016.10:g.3494641G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494641G>C Locations: - p.Gln95Glu (Ensembl:ENST00000437192) - c.283C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1438367590 | 95 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.6) Somatic: No Accession: NC_000016.10:g.3494640T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494640T>C Locations: - p.Gln95Arg (Ensembl:ENST00000437192) - c.284A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1283204890 | 96 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494637G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494637G>A Locations: - p.Pro96Leu (Ensembl:ENST00000437192) - c.287C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs765175704 | 97 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3494634T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494634T>C Locations: - p.Glu97Gly (Ensembl:ENST00000437192) - c.290A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037279183 | 97 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000016.10:g.3494635C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494635C>T Locations: - p.Glu97Lys (Ensembl:ENST00000437192) - c.289G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1004927883 | 98 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000016.10:g.3494631C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494631C>T Locations: - p.Gly98Asp (Ensembl:ENST00000437192) - c.293G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1422183341 | 99 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000016.10:g.3494629T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494629T>C Locations: - p.Thr99Ala (Ensembl:ENST00000437192) - c.295A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037278820 | 99 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.3494628G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494628G>A Locations: - p.Thr99Ile (Ensembl:ENST00000437192) - c.296C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1422183341 | 99 | T>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000016.10:g.3494629T>G Codon: ACA/CCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494629T>G Locations: - p.Thr99Pro (Ensembl:ENST00000437192) - c.295A>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs980688089 | 100 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.3494626C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494626C>T Locations: - p.Ala100Thr (Ensembl:ENST00000437192) - c.298G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1187522441 | 101 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3494621C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494621C>T Locations: - p.Trp101Ter (Ensembl:ENST00000437192) - c.303G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1159225025 | 101 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3494623A>T Codon: TGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494623A>T Locations: - p.Trp101Arg (Ensembl:ENST00000437192) - c.301T>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs776175547 | 102 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494619G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494619G>A Locations: - p.Ala102Val (Ensembl:ENST00000437192) - c.305C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1250439251 | 103 | L>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.3494616A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494616A>T Locations: - p.Leu103Gln (Ensembl:ENST00000437192) - c.308T>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs774766018 | 104 | D>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000016.10:g.3494613T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494613T>G Locations: - p.Asp104Ala (Ensembl:ENST00000437192) - c.311A>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1269862418 | 104 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000016.10:g.3494612G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494612G>T Locations: - p.Asp104Glu (Ensembl:ENST00000437192) - c.312C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs774766018 | 104 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.3494613T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494613T>C Locations: - p.Asp104Gly (Ensembl:ENST00000437192) - c.311A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs768242688 | 104 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.579) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3494614C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494614C>A Locations: - p.Asp104Tyr (Ensembl:ENST00000437192) - c.310G>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs749595550 | 107 | Q>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3494604T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494604T>G Locations: - p.Gln107Pro (Ensembl:ENST00000437192) - c.320A>C (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs749595550 | 107 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000016.10:g.3494604T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494604T>C Locations: - p.Gln107Arg (Ensembl:ENST00000437192) - c.320A>G (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs1267545321 | 111 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.449) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.3494592C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494592C>T Locations: - p.Gly111Asp (Ensembl:ENST00000437192) - c.332G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1262514566 | 111 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000016.10:g.3494593C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494593C>T Locations: - p.Gly111Ser (Ensembl:ENST00000437192) - c.331G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1479445574 | 112 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3494589G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494589G>A Locations: - p.Pro112Leu (Ensembl:ENST00000437192) - c.335C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs540246037 | 113 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.215) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000016.10:g.3494587G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494587G>A Locations: - p.R113C (NCI-TCGA:ENST00000437192) - p.Arg113Cys (Ensembl:ENST00000437192) - c.337C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs540246037 | 113 | R>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.3494587G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494587G>C Locations: - p.Arg113Gly (Ensembl:ENST00000437192) - c.337C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs61731451 | 113 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.169) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494586C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494586C>T Locations: - p.Arg113His (Ensembl:ENST00000437192) - c.338G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs61731451 | 113 | R>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.3494586C>G Codon: CGT/CCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494586C>G Locations: - p.Arg113Pro (Ensembl:ENST00000437192) - c.338G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs540246037 | 113 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.07) Somatic: No Population frequencies: - MAF: 0.000004073 (gnomAD) Accession: NC_000016.10:g.3494587G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494587G>T Locations: - p.R113S (NCI-TCGA:ENST00000437192) - p.Arg113Ser (Ensembl:ENST00000437192) - c.337C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1567413864 | 114 | N>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.843) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3494584T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494584T>G Locations: - p.Asn114His (Ensembl:ENST00000437192) - c.340A>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs755306485 | 114 | N>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.43) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3494583T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494583T>G Locations: - p.Asn114Thr (Ensembl:ENST00000437192) - c.341A>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs751824996 | 116 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.3494578G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494578G>A Locations: - p.Leu116Phe (Ensembl:ENST00000437192) - c.346C>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs1345959376 | 117 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.173) - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: NC_000016.10:g.3494574C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494574C>G Locations: - p.Cys117Ser (Ensembl:ENST00000437192) - c.350G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037277329 | 119 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494568G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494568G>C Locations: - p.Ala119Gly (Ensembl:ENST00000437192) - c.356C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs202070785 | 120 | L>F | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000016.10:g.3494566G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494566G>A Locations: - p.Leu120Phe (Ensembl:ENST00000437192) - c.358C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs202070785 | 120 | L>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.369) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000016.10:g.3494566G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494566G>T Locations: - p.Leu120Ile (Ensembl:ENST00000437192) - c.358C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1362101214 | 120 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494565A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494565A>C Locations: - p.Leu120Arg (Ensembl:ENST00000437192) - c.359T>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs202070785 | 120 | L>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.277) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.3494566G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494566G>C Locations: - p.Leu120Val (Ensembl:ENST00000437192) - c.358C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs373459930 | 122 | E>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3494560C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494560C>A Locations: - p.Glu122Ter (Ensembl:ENST00000437192) - c.364G>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs373459930 | 122 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3494560C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494560C>T Locations: - p.Glu122Lys (Ensembl:ENST00000437192) - c.364G>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs373459930 | 122 | E>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.536) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3494560C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494560C>G Locations: - p.Glu122Gln (Ensembl:ENST00000437192) - c.364G>C (Ensembl:ENST00000437192) Source type: large scale study | |||||||
COSV68714701 rs753347972 | 124 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000008127 (gnomAD) Accession: NC_000016.10:g.3494554G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494554G>A Locations: - p.R124* (NCI-TCGA:ENST00000437192) - p.Arg124Ter (Ensembl:ENST00000437192) - c.370C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs753347972 | 124 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494554G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494554G>C Locations: - p.Arg124Gly (Ensembl:ENST00000437192) - c.370C>G (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs763591094 | 124 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.3494553C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494553C>T Locations: - p.Arg124Gln (Ensembl:ENST00000437192) - c.371G>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs2037276845 | 125 | L>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494550A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494550A>C Locations: - p.Leu125Trp (Ensembl:ENST00000437192) - c.374T>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1199169453 | 127 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000016.10:g.3494545T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494545T>C Locations: - p.Arg127Gly (Ensembl:ENST00000437192) - c.379A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037276646 | 127 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.3494544C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494544C>T Locations: - p.Arg127Lys (Ensembl:ENST00000437192) - c.380G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs775135760 | 128 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.844) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494541T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494541T>A Locations: - p.Asp128Val (Ensembl:ENST00000437192) - c.383A>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs1213110506 | 129 | S>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.784) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494538C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494538C>A Locations: - p.Ser129Ile (Ensembl:ENST00000437192) - c.386G>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs767106319 | 129 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.56) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494537G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494537G>C Locations: - p.Ser129Arg (Ensembl:ENST00000437192) - c.387C>G (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs1213110506 | 129 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.204) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494538C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494538C>G Locations: - p.Ser129Thr (Ensembl:ENST00000437192) - c.386G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1205781465 | 132 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3494530T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494530T>C Locations: - p.Ser132Gly (Ensembl:ENST00000437192) - c.394A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1298182079 | 133 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3494526C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3494526C>T Locations: - p.Ser133Asn (Ensembl:ENST00000437192) - c.398G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs112458235 | 134 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3493987G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493987G>A Locations: - p.Ala134Val (Ensembl:ENST00000437192) - c.401C>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
COSV68714393 rs866347257 | 135 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000008362 (gnomAD) Accession: NC_000016.10:g.3493984G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493984G>A Locations: - p.S135F (NCI-TCGA:ENST00000437192) - p.Ser135Phe (Ensembl:ENST00000437192) - c.404C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1461637054 | 136 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493981C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493981C>A Locations: - p.Ser136Ile (Ensembl:ENST00000437192) - c.407G>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1371562009 | 139 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000016.10:g.3493972A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493972A>G Locations: - p.Met139Thr (Ensembl:ENST00000437192) - c.416T>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1445375858 | 141 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.382) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.3493966G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493966G>A Locations: - p.Pro141Leu (Ensembl:ENST00000437192) - c.422C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1185431675 | 141 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.3493967G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493967G>A Locations: - p.Pro141Ser (Ensembl:ENST00000437192) - c.421C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1185431675 | 141 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3493967G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493967G>T Locations: - p.Pro141Thr (Ensembl:ENST00000437192) - c.421C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs759201180 | 142 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493962G>T, NC_000016.10:g.3493962G>C Codon: GAC/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493962G>T, NC_000016.10:g.3493962G>C Locations: - p.Asp142Glu (Ensembl:ENST00000437192) - c.426C>A (Ensembl:ENST00000437192) - c.426C>G (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs773502956 | 144 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000016.10:g.3493957C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493957C>T Locations: - p.Gly144Asp (Ensembl:ENST00000437192) - c.431G>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs773502956 | 144 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.3493957C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493957C>A Locations: - p.Gly144Val (Ensembl:ENST00000437192) - c.431G>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs2037266355 | 146 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.3493951A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493951A>C Locations: - p.Leu146Arg (Ensembl:ENST00000437192) - c.437T>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2151031358 | 147 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3493948G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493948G>C Locations: - p.Pro147Arg (Ensembl:ENST00000437192) - c.440C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
COSV101290973 rs1374610011 | 148 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3493946G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493946G>A Locations: - p.Q148* (NCI-TCGA:ENST00000437192) - p.Gln148Ter (Ensembl:ENST00000437192) - c.442C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1374610011 | 148 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.3493946G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493946G>C Locations: - p.Gln148Glu (Ensembl:ENST00000437192) - c.442C>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs199609822 | 148 | Q>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493944C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493944C>G Locations: - p.Gln148His (Ensembl:ENST00000437192) - c.444G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs968265775 | 153 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.3493929C>G Codon: AGG/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493929C>G Locations: - p.Arg153Ser (Ensembl:ENST00000437192) - c.459G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1336964822 | 154 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000016.10:g.3493928G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493928G>A Locations: - p.Leu154Phe (Ensembl:ENST00000437192) - c.460C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs769246882 | 156 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493921G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493921G>A Locations: - p.Pro156Leu (Ensembl:ENST00000437192) - c.467C>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs777302052 | 156 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000016.10:g.3493922G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493922G>A Locations: - p.Pro156Ser (Ensembl:ENST00000437192) - c.466C>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs777302052 | 156 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493922G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493922G>T Locations: - p.Pro156Thr (Ensembl:ENST00000437192) - c.466C>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs2151031330 | 157 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.82) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493919T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493919T>G Locations: - p.Lys157Gln (Ensembl:ENST00000437192) - c.469A>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1181015565 | 157 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000016.10:g.3493918T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493918T>C Locations: - p.Lys157Arg (Ensembl:ENST00000437192) - c.470A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1338082929 | 158 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.3493916T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493916T>C Locations: - p.Arg158Gly (Ensembl:ENST00000437192) - c.472A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037265397 | 159 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493912G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493912G>A Locations: - p.Ser159Phe (Ensembl:ENST00000437192) - c.476C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs775689819 | 160 | W>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3493909C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493909C>T Locations: - p.Trp160Ter (Ensembl:ENST00000437192) - c.479G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs775689819 | 160 | W>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.3493909C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493909C>G Locations: - p.Trp160Ser (Ensembl:ENST00000437192) - c.479G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs778939191 | 162 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.3493904T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493904T>C Locations: - p.Thr162Ala (Ensembl:ENST00000437192) - c.484A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037265119 | 162 | T>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.275) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493903G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493903G>T Locations: - p.Thr162Asn (Ensembl:ENST00000437192) - c.485C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1161770583 | 163 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3493899C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493899C>T Locations: - p.Trp163Ter (Ensembl:ENST00000437192) - c.489G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs944568984 | 163 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3493900C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493900C>T Locations: - p.Trp163Ter (Ensembl:ENST00000437192) - c.488G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs2037264863 | 164 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493897T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493897T>C Locations: - p.Glu164Gly (Ensembl:ENST00000437192) - c.491A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs371481955 | 164 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3493898C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493898C>T Locations: - p.Glu164Lys (Ensembl:ENST00000437192) - c.490G>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs748984588 | 166 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.3493892C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493892C>A Locations: - p.Ala166Ser (Ensembl:ENST00000437192) - c.496G>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs907682237 | 166 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000016.10:g.3493891G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493891G>A Locations: - p.Ala166Val (Ensembl:ENST00000437192) - c.497C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs374834569 | 167 | M>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000016.10:g.3493889T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493889T>G Locations: - p.Met167Leu (Ensembl:ENST00000437192) - c.499A>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs374834569 | 167 | M>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000016.10:g.3493889T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493889T>C Locations: - p.Met167Val (Ensembl:ENST00000437192) - c.499A>G (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs367772273 | 168 | C>R | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3493886A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493886A>G Locations: - p.Cys168Arg (Ensembl:ENST00000437192) - c.502T>C (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs752249178 | 169 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3493883G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493883G>A Locations: - p.Pro169Ser (Ensembl:ENST00000437192) - c.505C>T (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs780666914 | 171 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.3493876C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493876C>T Locations: - p.Cys171Tyr (Ensembl:ENST00000437192) - c.512G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1432358355 | 173 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493870C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493870C>G Locations: - p.Arg173Thr (Ensembl:ENST00000437192) - c.518G>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs751226976 | 174 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.78) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493867G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493867G>T Locations: - p.Thr174Asn (Ensembl:ENST00000437192) - c.521C>A (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs200770058 | 175 | R>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000016.10:g.3493865G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493865G>A Locations: - p.Arg175Cys (Ensembl:ENST00000437192) - c.523C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs371199813 | 175 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.18) Somatic: No Population frequencies: - MAF: 0.00000855 (gnomAD) Accession: NC_000016.10:g.3493864C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493864C>T Locations: - p.R175H (NCI-TCGA:ENST00000437192) - p.Arg175His (Ensembl:ENST00000437192) - c.524G>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1349060186 | 178 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493855G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493855G>T Locations: - p.Ala178Asp (Ensembl:ENST00000437192) - c.533C>A (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1349060186 | 178 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.3493855G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493855G>A Locations: - p.Ala178Val (Ensembl:ENST00000437192) - c.533C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs1321592387 | 180 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493849T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493849T>G Locations: - p.Glu180Ala (Ensembl:ENST00000437192) - c.539A>C (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs764746989 | 180 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.3493848C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493848C>A Locations: - p.Glu180Asp (Ensembl:ENST00000437192) - c.540G>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs754224523 | 180 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493850C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493850C>G Locations: - p.Glu180Gln (Ensembl:ENST00000437192) - c.538G>C (Ensembl:ENST00000437192) Source type: large scale study | |||||||
rs2037263570 | 182 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3493843G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493843G>A Locations: - p.Pro182Leu (Ensembl:ENST00000437192) - c.545C>T (Ensembl:ENST00000437192) Source type: large scale study Cross-references: | |||||||
rs761254338 | 183 | *>Q | ExAC TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000016.10:g.3493841A>G Codon: TAG/CAG Consequence type: stop lost Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3493841A>G Locations: - p.Ter183GlnextTer67 (Ensembl:ENST00000437192) - c.547T>C (Ensembl:ENST00000437192) Source type: large scale study |