I3NI20 · I3NI20_HUMAN
- Proteinadenylate cyclase
- GeneADCY9
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids257 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1422823034 | 1 | I>F | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4114026T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114026T>A Locations: - p.Ile1Phe (Ensembl:ENST00000572288) - c.1A>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs750643399 | 1 | I>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.821) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4114025A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114025A>T Locations: - p.Ile1Asn (Ensembl:ENST00000572288) - c.2T>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1422823034 | 1 | I>V | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.637) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4114026T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114026T>C Locations: - p.Ile1Val (Ensembl:ENST00000572288) - c.1A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs762008865 | 2 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.4114021C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114021C>A Locations: - p.Glu2Asp (Ensembl:ENST00000572288) - c.6G>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs2057130607 | 2 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4114023C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114023C>T Locations: - p.Glu2Lys (Ensembl:ENST00000572288) - c.4G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057130556 | 3 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4114020G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114020G>C Locations: - p.Gln3Glu (Ensembl:ENST00000572288) - c.7C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057130535 | 3 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4114018C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114018C>A Locations: - p.Gln3His (Ensembl:ENST00000572288) - c.9G>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057130556 | 3 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4114020G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114020G>T Locations: - p.Gln3Lys (Ensembl:ENST00000572288) - c.7C>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1567153730 | 5 | C>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4114013C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114013C>A Locations: - p.Cys5Phe (Ensembl:ENST00000572288) - c.14G>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1052960850 | 6 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.4114010T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114010T>C Locations: - p.Gln6Arg (Ensembl:ENST00000572288) - c.17A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057130474 | 8 | K>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.4114005T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114005T>A Locations: - p.Lys8Ter (Ensembl:ENST00000572288) - c.22A>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1201292164 | 8 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.376) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.4114003C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114003C>A Locations: - p.Lys8Asn (Ensembl:ENST00000572288) - c.24G>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs561305813 | 9 | K>E | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.604) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.4114002T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114002T>C Locations: - p.Lys9Glu (Ensembl:ENST00000572288) - c.25A>G (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1293349685 | 9 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.4114001T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4114001T>G Locations: - p.Lys9Thr (Ensembl:ENST00000572288) - c.26A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1442487024 | 11 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113996T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113996T>A Locations: - p.Met11Leu (Ensembl:ENST00000572288) - c.31A>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs763763787 | 12 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113993C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113993C>T Locations: - p.Val12Met (Ensembl:ENST00000572288) - c.34G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1220075332 | 15 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113982T>G Codon: AGA/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113982T>G Locations: - p.Arg15Ser (Ensembl:ENST00000572288) - c.45A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2141211853 | 15 | R>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113983C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113983C>G Locations: - p.Arg15Thr (Ensembl:ENST00000572288) - c.44G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs775201693 | 18 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113974A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113974A>C Locations: - p.Val18Gly (Ensembl:ENST00000572288) - c.53T>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs760715810 | 20 | T>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113968G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113968G>A Locations: - p.Thr20Met (Ensembl:ENST00000572288) - c.59C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1348071139 | 22 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113963T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113963T>C Locations: - p.Thr22Ala (Ensembl:ENST00000572288) - c.64A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1284749752 | 23 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.168) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.4113960C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113960C>T Locations: - p.Val23Ile (Ensembl:ENST00000572288) - c.67G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs759050637 | 25 | C>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.4113952G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113952G>T Locations: - p.Cys25Ter (Ensembl:ENST00000572288) - c.75C>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057130072 | 30 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.4113937C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113937C>T Locations: - p.Met30Ile (Ensembl:ENST00000572288) - c.90G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1346467918 | 30 | M>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113938A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113938A>T Locations: - p.Met30Lys (Ensembl:ENST00000572288) - c.89T>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs200124999 | 31 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.4113936T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113936T>C Locations: - p.Arg31Gly (Ensembl:ENST00000572288) - c.91A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057130027 | 31 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.4113935C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113935C>T Locations: - p.Arg31Lys (Ensembl:ENST00000572288) - c.92G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs774163987 | 31 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.559) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113934C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113934C>A Locations: - p.Arg31Ser (Ensembl:ENST00000572288) - c.93G>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs748890582 | 32 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113931C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113931C>A Locations: - p.Arg32Ser (Ensembl:ENST00000572288) - c.96G>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1597236269 | 33 | F>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.4113930A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113930A>C Locations: - p.Phe33Val (Ensembl:ENST00000572288) - c.97T>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057129898 | 37 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113918C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113918C>G Locations: - p.Val37Leu (Ensembl:ENST00000572288) - c.109G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs747579417 | 41 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113906C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113906C>G Locations: - p.Asp41His (Ensembl:ENST00000572288) - c.121G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1406093665 | 42 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113903C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113903C>T Locations: - p.Val42Met (Ensembl:ENST00000572288) - c.124G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1597236253 | 43 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113899T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113899T>G Locations: - p.Asn43Thr (Ensembl:ENST00000572288) - c.128A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs780468630 | 48 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.262) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113885T>A, NC_000016.10:g.4113885T>G Codon: ATG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113885T>A, NC_000016.10:g.4113885T>G Locations: - p.Met48Leu (Ensembl:ENST00000572288) - c.142A>T (Ensembl:ENST00000572288) - c.142A>C (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs780468630 | 48 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113885T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113885T>C Locations: - p.Met48Val (Ensembl:ENST00000572288) - c.142A>G (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs778957387 | 52 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113872C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113872C>G Locations: - p.Gly52Ala (Ensembl:ENST00000572288) - c.155G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1272349904 | 52 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113873C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113873C>T Locations: - p.Gly52Arg (Ensembl:ENST00000572288) - c.154G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057129652 | 53 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.783) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113869A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113869A>G Locations: - p.Val53Ala (Ensembl:ENST00000572288) - c.158T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1242242611 | 53 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.4113870C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113870C>T Locations: - p.Val53Met (Ensembl:ENST00000572288) - c.157G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs371561050 | 55 | G>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113864C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113864C>T Locations: - p.Gly55Ser (Ensembl:ENST00000572288) - c.163G>A (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1469842444 | 56 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113860T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113860T>C Locations: - p.Lys56Arg (Ensembl:ENST00000572288) - c.167A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1597236208 | 57 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113857A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113857A>C Locations: - p.Val57Gly (Ensembl:ENST00000572288) - c.170T>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1597236206 | 58 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113854T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113854T>G Locations: - p.His58Pro (Ensembl:ENST00000572288) - c.173A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs755825386 | 58 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.547) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113853G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113853G>C Locations: - p.His58Gln (Ensembl:ENST00000572288) - c.174C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs72556393 | 59 | I>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113851A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113851A>T Locations: - p.Ile59Asn (Ensembl:ENST00000572288) - c.176T>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057129502 | 59 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.4113852T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113852T>C Locations: - p.Ile59Val (Ensembl:ENST00000572288) - c.175A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1265100094 | 61 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113845T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113845T>A Locations: - p.Glu61Val (Ensembl:ENST00000572288) - c.182A>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1451023510 | 62 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113842G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113842G>T Locations: - p.Ala62Asp (Ensembl:ENST00000572288) - c.185C>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs752686280 | 62 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113843C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113843C>G Locations: - p.Ala62Pro (Ensembl:ENST00000572288) - c.184G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1597236177 | 63 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.56) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.4113840T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113840T>C Locations: - p.Thr63Ala (Ensembl:ENST00000572288) - c.187A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs767505370 | 63 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.664) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113839G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113839G>A Locations: - p.Thr63Ile (Ensembl:ENST00000572288) - c.188C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057129310 | 64 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113837C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113837C>T Locations: - p.Ala64Thr (Ensembl:ENST00000572288) - c.190G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs565530412 | 65 | K>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.4113834T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113834T>C Locations: - p.Lys65Glu (Ensembl:ENST00000572288) - c.193A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs765960096 | 66 | Y>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.4113830T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113830T>C Locations: - p.Tyr66Cys (Ensembl:ENST00000572288) - c.197A>G (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs2057129214 | 67 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.674) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113826T>G Codon: TTA/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113826T>G Locations: - p.Leu67Phe (Ensembl:ENST00000572288) - c.201A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs534906920 | 68 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113825C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113825C>G Locations: - p.Asp68His (Ensembl:ENST00000572288) - c.202G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs148530006 | 69 | D>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113822C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113822C>G Locations: - p.Asp69His (Ensembl:ENST00000572288) - c.205G>C (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs148530006 | 69 | D>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113822C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113822C>T Locations: - p.Asp69Asn (Ensembl:ENST00000572288) - c.205G>A (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs2057129135 | 70 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113818C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113818C>T Locations: - p.Arg70Gln (Ensembl:ENST00000572288) - c.209G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057129152 | 70 | R>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113819G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113819G>A Locations: - p.Arg70Trp (Ensembl:ENST00000572288) - c.208C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
COSV53574136 rs772697228 | 72 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000016.10:g.4113813C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113813C>T Locations: - p.E72K (NCI-TCGA:ENST00000572288) - p.Glu72Lys (Ensembl:ENST00000572288) - c.214G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs374304621 | 74 | E>D | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.231) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113805T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113805T>A Locations: - p.Glu74Asp (Ensembl:ENST00000572288) - c.222A>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs144747548 | 74 | E>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.4113807C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113807C>G Locations: - p.Glu74Gln (Ensembl:ENST00000572288) - c.220G>C (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs545435610 | 75 | D>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.4113803T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113803T>C Locations: - p.Asp75Gly (Ensembl:ENST00000572288) - c.224A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs545435610 | 75 | D>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113803T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113803T>A Locations: - p.Asp75Val (Ensembl:ENST00000572288) - c.224A>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs772631736 | 76 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.4113801C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113801C>T Locations: - p.Gly76Arg (Ensembl:ENST00000572288) - c.226G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1028632033 | 78 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.4113795C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113795C>T Locations: - p.Val78Ile (Ensembl:ENST00000572288) - c.232G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1028632033 | 78 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.4113795C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113795C>G Locations: - p.Val78Leu (Ensembl:ENST00000572288) - c.232G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs779012578 | 79 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000016.10:g.4113792T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113792T>C Locations: - p.Ile79Val (Ensembl:ENST00000572288) - c.235A>G (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1244428187 | 81 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113785C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113785C>T Locations: - p.Arg81Gln (Ensembl:ENST00000572288) - c.242G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
COSV53579925 rs1399804998 | 83 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113779C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113779C>T Locations: - p.G83D (NCI-TCGA:ENST00000572288) - p.Gly83Asp (Ensembl:ENST00000572288) - c.248G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057128716 | 84 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.4113775C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113775C>A Locations: - p.Gln84His (Ensembl:ENST00000572288) - c.252G>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1460578914 | 84 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.4113776T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113776T>C Locations: - p.Gln84Arg (Ensembl:ENST00000572288) - c.251A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs777791572 | 85 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.417) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.4113772G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113772G>C Locations: - p.Ser85Arg (Ensembl:ENST00000572288) - c.255C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2057128618 | 86 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.4113770A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113770A>G Locations: - p.Val86Ala (Ensembl:ENST00000572288) - c.257T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs767419142 | 86 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.4113771C>A, NC_000016.10:g.4113771C>G Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113771C>A, NC_000016.10:g.4113771C>G Locations: - p.Val86Leu (Ensembl:ENST00000572288) - c.256G>T (Ensembl:ENST00000572288) - c.256G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs767419142 | 86 | V>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.4113771C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113771C>T Locations: - p.Val86Met (Ensembl:ENST00000572288) - c.256G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1296928581 | 89 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000016.10:g.4113760G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113760G>T Locations: - p.Asp89Glu (Ensembl:ENST00000572288) - c.267C>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
RCV000971153 rs52791170 | 92 | K>Q | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00359 (ClinVar) Accession: NC_000016.10:g.4113753T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113753T>G Locations: - p.Lys92Gln (Ensembl:ENST00000572288) - c.274A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs766014253 | 92 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.645) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4113752T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4113752T>G Locations: - p.Lys92Thr (Ensembl:ENST00000572288) - c.275A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs974084624 | 93 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.768) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4007558C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007558C>T Locations: - p.Gly93Asp (Ensembl:ENST00000572288) - c.278G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
COSV99570175 rs1358886221 | 94 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.24) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000008243 (gnomAD) Accession: NC_000016.10:g.4007556A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007556A>C Locations: - p.L94V (NCI-TCGA:ENST00000572288) - p.Leu94Val (Ensembl:ENST00000572288) - c.280T>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1317725141 | 96 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.4007549G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007549G>A Locations: - p.Thr96Ile (Ensembl:ENST00000572288) - c.287C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs375887137 | 100 | S>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4007537G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007537G>A Locations: - p.Ser100Leu (Ensembl:ENST00000572288) - c.299C>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs748406740 | 100 | S>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4007538A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007538A>G Locations: - p.Ser100Pro (Ensembl:ENST00000572288) - c.298T>C (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs748406740 | 100 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4007538A>T Codon: TCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007538A>T Locations: - p.Ser100Thr (Ensembl:ENST00000572288) - c.298T>A (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs375887137 | 100 | S>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4007537G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007537G>C Locations: - p.Ser100Trp (Ensembl:ENST00000572288) - c.299C>G (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs527706058 | 102 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.307) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.4007531T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007531T>G Locations: - p.Gln102Pro (Ensembl:ENST00000572288) - c.305A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1157829648 | 103 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4007528C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007528C>G Locations: - p.Arg103Thr (Ensembl:ENST00000572288) - c.308G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1402669553 | 104 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.4007525G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007525G>A Locations: - p.Ala104Val (Ensembl:ENST00000572288) - c.311C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs758306629 | 106 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000016.10:g.4007520C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007520C>T Locations: - p.Glu106Lys (Ensembl:ENST00000572288) - c.316G>A (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs758306629 | 106 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000016.10:g.4007520C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007520C>G Locations: - p.Glu106Gln (Ensembl:ENST00000572288) - c.316G>C (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs778307855 | 107 | S>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.4007516G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007516G>C Locations: - p.Ser107Cys (Ensembl:ENST00000572288) - c.320C>G (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs778307855 | 107 | S>F | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.4007516G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007516G>A Locations: - p.Ser107Phe (Ensembl:ENST00000572288) - c.320C>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
RCV000906335 rs144065949 | 108 | R>C | Likely benign (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00114 (ClinVar) Accession: NC_000016.10:g.4007514G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007514G>A Locations: - p.Arg108Cys (Ensembl:ENST00000572288) - c.322C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1362893267 | 108 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000016.10:g.4007513C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007513C>T Locations: - p.Arg108His (Ensembl:ENST00000572288) - c.323G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056374734 | 109 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.4007511A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007511A>G Locations: - p.Cys109Arg (Ensembl:ENST00000572288) - c.325T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056374708 | 109 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.4007510C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007510C>G Locations: - p.Cys109Ser (Ensembl:ENST00000572288) - c.326G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056374686 | 111 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4007505A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007505A>G Locations: - p.Cys111Arg (Ensembl:ENST00000572288) - c.331T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1471821175 | 111 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4007504C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007504C>G Locations: - p.Cys111Ser (Ensembl:ENST00000572288) - c.332G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1431883830 | 112 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.4007502C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007502C>A Locations: - p.Ala112Ser (Ensembl:ENST00000572288) - c.334G>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs763678836 | 114 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000016.10:g.4007496C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007496C>T Locations: - p.Ala114Thr (Ensembl:ENST00000572288) - c.340G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1597160753 | 116 | L>P | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.77) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.4007489A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007489A>G Locations: - p.Leu116Pro (Ensembl:ENST00000572288) - c.347T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056374543 | 116 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.4007490G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007490G>C Locations: - p.Leu116Val (Ensembl:ENST00000572288) - c.346C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs760308458 | 117 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4007486G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007486G>A Locations: - p.Ser117Phe (Ensembl:ENST00000572288) - c.350C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs766737348 | 120 | E>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4007477T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007477T>A Locations: - p.Glu120Val (Ensembl:ENST00000572288) - c.359A>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs763421336 | 121 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000016.10:g.4007475C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007475C>T Locations: - p.Val121Ile (Ensembl:ENST00000572288) - c.361G>A (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1222869446 | 122 | I>T | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000016.10:g.4007471A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007471A>G Locations: - p.Ile122Thr (Ensembl:ENST00000572288) - c.365T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1283681015 | 122 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000016.10:g.4007472T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007472T>C Locations: - p.Ile122Val (Ensembl:ENST00000572288) - c.364A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1382301876 | 124 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.4007465C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007465C>T Locations: - p.Gly124Asp (Ensembl:ENST00000572288) - c.371G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs765267200 | 124 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000016.10:g.4007466C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007466C>T Locations: - p.Gly124Ser (Ensembl:ENST00000572288) - c.370G>A (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs2056374232 | 125 | S>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.4007462G>T Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007462G>T Locations: - p.Ser125Ter (Ensembl:ENST00000572288) - c.374C>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1318198374 | 127 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.91) Somatic: No Accession: NC_000016.10:g.4007457C>A, NC_000016.10:g.4007457C>G Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007457C>A, NC_000016.10:g.4007457C>G Locations: - p.Val127Leu (Ensembl:ENST00000572288) - c.379G>T (Ensembl:ENST00000572288) - c.379G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs776834880 | 130 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000016.10:g.4007447C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007447C>T Locations: - p.Gly130Asp (Ensembl:ENST00000572288) - c.389G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs769064622 | 131 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.4007444G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007444G>A Locations: - p.Pro131Leu (Ensembl:ENST00000572288) - c.392C>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs747200497 | 132 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000016.10:g.4007440C>G Codon: AGG/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007440C>G Locations: - p.Arg132Ser (Ensembl:ENST00000572288) - c.396G>C (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1205300450 | 133 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000016.10:g.4007439C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007439C>T Locations: - p.Gly133Arg (Ensembl:ENST00000572288) - c.397G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs775196337 | 134 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000016.10:g.4007435T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007435T>C Locations: - p.Gln134Arg (Ensembl:ENST00000572288) - c.401A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs771848877 | 135 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000016.10:g.4007432C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007432C>T Locations: - p.Gly135Glu (Ensembl:ENST00000572288) - c.404G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1435663987 | 136 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000016.10:g.4007430T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007430T>C Locations: - p.Thr136Ala (Ensembl:ENST00000572288) - c.406A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs745823164 | 136 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.214) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000016.10:g.4007429G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007429G>A Locations: - p.Thr136Ile (Ensembl:ENST00000572288) - c.407C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1435663987 | 136 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000016.10:g.4007430T>A Codon: ACA/TCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007430T>A Locations: - p.Thr136Ser (Ensembl:ENST00000572288) - c.406A>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs150452337 | 137 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.25) Somatic: No Population frequencies: - MAF: 0.00002403 (gnomAD) Accession: NC_000016.10:g.4007426G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007426G>A Locations: - p.A137V (NCI-TCGA:ENST00000572288) - p.Ala137Val (Ensembl:ENST00000572288) - c.410C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs745357854 | 140 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000016.10:g.4007417C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007417C>T Locations: - p.Gly140Glu (Ensembl:ENST00000572288) - c.419G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056373755 | 142 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000016.10:g.4007412C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007412C>T Locations: - p.Val142Ile (Ensembl:ENST00000572288) - c.424G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056373708 | 143 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.78) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.4007409T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007409T>A Locations: - p.Ser143Cys (Ensembl:ENST00000572288) - c.427A>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056373708 | 143 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000016.10:g.4007409T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007409T>C Locations: - p.Ser143Gly (Ensembl:ENST00000572288) - c.427A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs193292810 | 143 | S>I | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.4007408C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007408C>A Locations: - p.Ser143Ile (Ensembl:ENST00000572288) - c.428G>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs193292810 | 143 | S>T | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000016.10:g.4007408C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007408C>G Locations: - p.Ser143Thr (Ensembl:ENST00000572288) - c.428G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs755805807 | 146 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: tolerated (0.05) Somatic: No Population frequencies: - MAF: 0.000004251 (gnomAD) Accession: NC_000016.10:g.4007399G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007399G>A Locations: - p.A146V (NCI-TCGA:ENST00000572288) - p.Ala146Val (Ensembl:ENST00000572288) - c.437C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1597160644 | 147 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000016.10:g.4007396T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007396T>C Locations: - p.Gln147Arg (Ensembl:ENST00000572288) - c.440A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1434163106 | 148 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000016.10:g.4007394T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007394T>C Locations: - p.Thr148Ala (Ensembl:ENST00000572288) - c.442A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056373478 | 149 | V>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000016.10:g.4007390A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007390A>T Locations: - p.Val149Asp (Ensembl:ENST00000572288) - c.446T>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056373506 | 149 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000016.10:g.4007391C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007391C>T Locations: - p.Val149Ile (Ensembl:ENST00000572288) - c.445G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056373434 | 150 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000016.10:g.4007387T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007387T>C Locations: - p.Lys150Arg (Ensembl:ENST00000572288) - c.449A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs752375588 | 152 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000016.10:g.4007382A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007382A>G Locations: - p.Phe152Leu (Ensembl:ENST00000572288) - c.454T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs79644398 | 152 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000016.10:g.4007381A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007381A>G Locations: - p.Phe152Ser (Ensembl:ENST00000572288) - c.455T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1454288972 | 154 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000016.10:g.4007376T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007376T>C Locations: - p.Asn154Asp (Ensembl:ENST00000572288) - c.460A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1383105495 | 155 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000016.10:g.4007372A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007372A>C Locations: - p.Leu155Arg (Ensembl:ENST00000572288) - c.464T>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs766679285 | 156 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.4007370T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4007370T>G Locations: - p.Lys156Gln (Ensembl:ENST00000572288) - c.466A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1597151710 | 157 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3993510T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993510T>G Locations: - p.Thr157Pro (Ensembl:ENST00000572288) - c.469A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs984781815 | 157 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000016.10:g.3993509G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993509G>C Locations: - p.Thr157Ser (Ensembl:ENST00000572288) - c.470C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056263871 | 158 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.797) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.3993507A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993507A>T Locations: - p.Cys158Ser (Ensembl:ENST00000572288) - c.472T>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs770923723 | 158 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.695) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3993506C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993506C>T Locations: - p.Cys158Tyr (Ensembl:ENST00000572288) - c.473G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs140567074 | 159 | P>L | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000016.10:g.3993503G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993503G>A Locations: - p.Pro159Leu (Ensembl:ENST00000572288) - c.476C>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1165709276 | 159 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000016.10:g.3993504G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993504G>A Locations: - p.Pro159Ser (Ensembl:ENST00000572288) - c.475C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs148220141 | 160 | S>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.3993500G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993500G>A Locations: - p.Ser160Leu (Ensembl:ENST00000572288) - c.479C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs994169231 | 161 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.3993498A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993498A>G Locations: - p.Cys161Arg (Ensembl:ENST00000572288) - c.481T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs780834261 | 162 | G>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.3993495C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993495C>T Locations: - p.Gly162Arg (Ensembl:ENST00000572288) - c.484G>A (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1047946477 | 163 | I>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.3993492T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993492T>A Locations: - p.Ile163Phe (Ensembl:ENST00000572288) - c.487A>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs374527731 | 163 | I>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.3993490G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993490G>C Locations: - p.Ile163Met (Ensembl:ENST00000572288) - c.489C>G (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1467317181 | 166 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000016.10:g.3993483C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993483C>T Locations: - p.Ala166Thr (Ensembl:ENST00000572288) - c.496G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs750862551 | 166 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000016.10:g.3993482G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993482G>A Locations: - p.Ala166Val (Ensembl:ENST00000572288) - c.497C>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1361670996 | 167 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.319) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.3993480G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993480G>A Locations: - p.Pro167Ser (Ensembl:ENST00000572288) - c.499C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs868204077 | 169 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.3993473G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993473G>A Locations: - p.Ser169Phe (Ensembl:ENST00000572288) - c.506C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs973524248 | 170 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3993469T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993469T>A Locations: - p.Glu170Asp (Ensembl:ENST00000572288) - c.510A>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056263271 | 171 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000016.10:g.3993467G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993467G>A Locations: - p.Ala171Val (Ensembl:ENST00000572288) - c.512C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs370853116 | 172 | G>S | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000016.10:g.3993465C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993465C>T Locations: - p.Gly172Ser (Ensembl:ENST00000572288) - c.514G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs915966240 | 173 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000016.10:g.3993461G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993461G>T Locations: - p.Ala173Asp (Ensembl:ENST00000572288) - c.518C>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs752875724 | 173 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000016.10:g.3993462C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993462C>T Locations: - p.Ala173Thr (Ensembl:ENST00000572288) - c.517G>A (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs915966240 | 173 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000016.10:g.3993461G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993461G>A Locations: - p.Ala173Val (Ensembl:ENST00000572288) - c.518C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs774173598 | 174 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000016.10:g.3993457C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993457C>G Locations: - p.Glu174Asp (Ensembl:ENST00000572288) - c.522G>C (Ensembl:ENST00000572288) Source type: large scale study | |||||||
COSV53578661 rs759674069 | 174 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.704) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00004374 (gnomAD) Accession: NC_000016.10:g.3993459C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993459C>T Locations: - p.E174K (NCI-TCGA:ENST00000572288) - p.Glu174Lys (Ensembl:ENST00000572288) - c.520G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs200558073 | 175 | G>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3993455C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993455C>T Locations: - p.Gly175Glu (Ensembl:ENST00000572288) - c.524G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs770692766 | 175 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000016.10:g.3993456C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993456C>T Locations: - p.Gly175Arg (Ensembl:ENST00000572288) - c.523G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs773096560 | 176 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000016.10:g.3993452C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993452C>T Locations: - p.Gly176Glu (Ensembl:ENST00000572288) - c.527G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1475481446 | 177 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3993450C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993450C>G Locations: - p.Ala177Pro (Ensembl:ENST00000572288) - c.529G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs769302200 | 178 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.3993447G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993447G>A Locations: - p.Pro178Ser (Ensembl:ENST00000572288) - c.532C>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1255643254 | 179 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000016.10:g.3993442T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993442T>G Locations: - p.Gln179His (Ensembl:ENST00000572288) - c.537A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs146408573 | 179 | Q>L | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000016.10:g.3993443T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993443T>A Locations: - p.Gln179Leu (Ensembl:ENST00000572288) - c.536A>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs780559672 | 180 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3993439G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993439G>C Locations: - p.Asn180Lys (Ensembl:ENST00000572288) - c.540C>G (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs143999770 | 181 | G>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.852) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.3993438C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993438C>T Locations: - p.Gly181Ser (Ensembl:ENST00000572288) - c.541G>A (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs542893253 | 182 | C>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.71) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3993435A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993435A>G Locations: - p.Cys182Arg (Ensembl:ENST00000572288) - c.544T>C (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1245676303 | 183 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.403) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3993432G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993432G>C Locations: - p.Gln183Glu (Ensembl:ENST00000572288) - c.547C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1597151596 | 183 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.3993431T>G Codon: CAA/CCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993431T>G Locations: - p.Gln183Pro (Ensembl:ENST00000572288) - c.548A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs977346667 | 184 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000016.10:g.3993427G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993427G>C Locations: - p.Asp184Glu (Ensembl:ENST00000572288) - c.552C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
COSV53575360 rs779440212 | 185 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.00003976 (gnomAD) Accession: NC_000016.10:g.3993426C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993426C>T Locations: - p.E185K (NCI-TCGA:ENST00000572288) - p.Glu185Lys (Ensembl:ENST00000572288) - c.553G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2141704628 | 187 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3993418T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993418T>A Locations: - p.Lys187Asn (Ensembl:ENST00000572288) - c.561A>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056262571 | 188 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.3993417T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993417T>G Locations: - p.Asn188His (Ensembl:ENST00000572288) - c.562A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1227383281 | 188 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000016.10:g.3993416T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993416T>C Locations: - p.Asn188Ser (Ensembl:ENST00000572288) - c.563A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
RCV000970887 rs113187435 | 189 | S>G | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Population frequencies: - MAF: 0.00739 (ClinVar) Accession: NC_000016.10:g.3993414T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993414T>C Locations: - p.Ser189Gly (Ensembl:ENST00000572288) - c.565A>G (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs2056262445 | 191 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.3993408T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993408T>C Locations: - p.Lys191Glu (Ensembl:ENST00000572288) - c.571A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056262445 | 191 | K>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.3993408T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993408T>G Locations: - p.Lys191Gln (Ensembl:ENST00000572288) - c.571A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056262397 | 193 | T>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000016.10:g.3993401G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993401G>C Locations: - p.Thr193Arg (Ensembl:ENST00000572288) - c.578C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056262370 | 194 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.3993399T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993399T>A Locations: - p.Ser194Cys (Ensembl:ENST00000572288) - c.580A>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1295727548 | 194 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.3993398C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993398C>T Locations: - p.Ser194Asn (Ensembl:ENST00000572288) - c.581G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs996434738 | 194 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.3993397G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993397G>C Locations: - p.Ser194Arg (Ensembl:ENST00000572288) - c.582C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1567428512 | 195 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.3993396A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993396A>G Locations: - p.Ser195Pro (Ensembl:ENST00000572288) - c.583T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs754400130 | 196 | W>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000016.10:g.3993391C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993391C>A Locations: - p.Trp196Cys (Ensembl:ENST00000572288) - c.588G>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs778366170 | 197 | L>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000016.10:g.3993390G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993390G>T Locations: - p.Leu197Met (Ensembl:ENST00000572288) - c.589C>A (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs899594280 | 198 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000016.10:g.3993385C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993385C>G Locations: - p.Leu198Phe (Ensembl:ENST00000572288) - c.594G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1597151552 | 198 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000016.10:g.3993387A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993387A>C Locations: - p.Leu198Val (Ensembl:ENST00000572288) - c.592T>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs752890401 | 199 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000016.10:g.3993384A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993384A>G Locations: - p.Phe199Leu (Ensembl:ENST00000572288) - c.595T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs767465372 | 199 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000016.10:g.3993382G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993382G>C Locations: - p.Phe199Leu (Ensembl:ENST00000572288) - c.597C>G (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs759853142 | 200 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000016.10:g.3993380A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993380A>G Locations: - p.Leu200Pro (Ensembl:ENST00000572288) - c.599T>C (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs2056261928 | 202 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated - low confidence (0.75) Somatic: No Accession: NC_000016.10:g.3993374A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993374A>G Locations: - p.Val202Ala (Ensembl:ENST00000572288) - c.605T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs766196075 | 202 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000016.10:g.3993375C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993375C>T Locations: - p.Val202Ile (Ensembl:ENST00000572288) - c.604G>A (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs766196075 | 202 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated - low confidence (0.79) Somatic: No Accession: NC_000016.10:g.3993375C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993375C>G Locations: - p.Val202Leu (Ensembl:ENST00000572288) - c.604G>C (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1189338837 | 203 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3993371G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993371G>A Locations: - p.Pro203Leu (Ensembl:ENST00000572288) - c.608C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056261902 | 203 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.3993372G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993372G>A Locations: - p.Pro203Ser (Ensembl:ENST00000572288) - c.607C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056261841 | 204 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000016.10:g.3993369G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993369G>A Locations: - p.Leu204Phe (Ensembl:ENST00000572288) - c.610C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs774762593 | 205 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3993365A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993365A>G Locations: - p.Leu205Pro (Ensembl:ENST00000572288) - c.614T>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs774762593 | 205 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3993365A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993365A>C Locations: - p.Leu205Arg (Ensembl:ENST00000572288) - c.614T>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs368294824 | 206 | A>V | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.3993362G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993362G>A Locations: - p.Ala206Val (Ensembl:ENST00000572288) - c.617C>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs2056261626 | 207 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000016.10:g.3993359T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993359T>C Locations: - p.His207Arg (Ensembl:ENST00000572288) - c.620A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1463248720 | 209 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3993353G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993353G>T Locations: - p.Pro209His (Ensembl:ENST00000572288) - c.626C>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1334285107 | 209 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000016.10:g.3993354G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993354G>A Locations: - p.Pro209Ser (Ensembl:ENST00000572288) - c.625C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1214060914 | 210 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.313) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.3993351T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3993351T>C Locations: - p.Lys210Glu (Ensembl:ENST00000572288) - c.628A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1597150761 | 212 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000016.10:g.3992359G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992359G>A Locations: - p.Ser212Phe (Ensembl:ENST00000572288) - c.635C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs76488354 | 213 | G>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3992357C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992357C>A Locations: - p.Gly213Ter (Ensembl:ENST00000572288) - c.637G>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1378313214 | 214 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.868) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3992353C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992353C>T Locations: - p.Gly214Glu (Ensembl:ENST00000572288) - c.641G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1160205554 | 214 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.3992354C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992354C>T Locations: - p.G214R (NCI-TCGA:ENST00000572288) - p.Gly214Arg (Ensembl:ENST00000572288) - c.640G>A (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs780073586 | 215 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3992350G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992350G>C Locations: - p.Pro215Arg (Ensembl:ENST00000572288) - c.644C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056251663 | 215 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000016.10:g.3992351G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992351G>A Locations: - p.Pro215Ser (Ensembl:ENST00000572288) - c.643C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056251593 | 216 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.3992347T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992347T>C Locations: - p.Asn216Ser (Ensembl:ENST00000572288) - c.647A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056251593 | 216 | N>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.3992347T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992347T>G Locations: - p.Asn216Thr (Ensembl:ENST00000572288) - c.647A>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1173019018 | 217 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3992344G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992344G>T Locations: - p.Pro217His (Ensembl:ENST00000572288) - c.650C>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1173019018 | 217 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.309) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3992344G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992344G>C Locations: - p.Pro217Arg (Ensembl:ENST00000572288) - c.650C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1452957344 | 217 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3992345G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992345G>T Locations: - p.Pro217Thr (Ensembl:ENST00000572288) - c.649C>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1386547859 | 220 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.3992335T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992335T>C Locations: - p.Gln220Arg (Ensembl:ENST00000572288) - c.659A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs750592510 | 221 | N>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3992333T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992333T>C Locations: - p.Asn221Asp (Ensembl:ENST00000572288) - c.661A>G (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs112278827 | 221 | N>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3992331G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992331G>T Locations: - p.Asn221Lys (Ensembl:ENST00000572288) - c.663C>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs763995166 | 222 | G>R | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.626) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3992330C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992330C>T Locations: - p.Gly222Arg (Ensembl:ENST00000572288) - c.664G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs763995166 | 222 | G>W | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3992330C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992330C>A Locations: - p.Gly222Trp (Ensembl:ENST00000572288) - c.664G>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs370068796 | 224 | L>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3992324G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992324G>A Locations: - p.Leu224Phe (Ensembl:ENST00000572288) - c.670C>T (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1253174135 | 225 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.3992320C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992320C>T Locations: - p.Ser225Asn (Ensembl:ENST00000572288) - c.674G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs775180493 | 226 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3992317G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992317G>C Locations: - p.Pro226Arg (Ensembl:ENST00000572288) - c.677C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs2056251199 | 229 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3992308T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992308T>C Locations: - p.Glu229Gly (Ensembl:ENST00000572288) - c.686A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs868435762 | 233 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.3992296G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992296G>A Locations: - p.Thr233Ile (Ensembl:ENST00000572288) - c.698C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs868435762 | 233 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000016.10:g.3992296G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992296G>C Locations: - p.Thr233Ser (Ensembl:ENST00000572288) - c.698C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs759286668 | 234 | N>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.857) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3992294T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992294T>C Locations: - p.Asn234Asp (Ensembl:ENST00000572288) - c.700A>G (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs759286668 | 234 | N>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.3992294T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992294T>G Locations: - p.Asn234His (Ensembl:ENST00000572288) - c.700A>C (Ensembl:ENST00000572288) Source type: large scale study | |||||||
rs1245864546 | 235 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3992291T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992291T>C Locations: - p.Ser235Gly (Ensembl:ENST00000572288) - c.703A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1400305269 | 236 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3992286C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992286C>A Locations: - p.Gln236His (Ensembl:ENST00000572288) - c.708G>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1321369782 | 239 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3992279G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992279G>C Locations: - p.Leu239Val (Ensembl:ENST00000572288) - c.715C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs770201418 | 241 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3992272T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992272T>C Locations: - p.Glu241Gly (Ensembl:ENST00000572288) - c.722A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs866821182 | 244 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.3992264G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992264G>A Locations: - p.Gln244Ter (Ensembl:ENST00000572288) - c.730C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs866821182 | 244 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3992264G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992264G>C Locations: - p.Gln244Glu (Ensembl:ENST00000572288) - c.730C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs961185232 | 244 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.3992262C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992262C>G Locations: - p.Gln244His (Ensembl:ENST00000572288) - c.732G>C (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1347782959 | 244 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3992263T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992263T>C Locations: - p.Gln244Arg (Ensembl:ENST00000572288) - c.731A>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1366944598 | 250 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000016.10:g.3992245G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992245G>C Locations: - p.Ala250Gly (Ensembl:ENST00000572288) - c.749C>G (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1366944598 | 250 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000016.10:g.3992245G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992245G>A Locations: - p.Ala250Val (Ensembl:ENST00000572288) - c.749C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1262012014 | 251 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.3992243C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992243C>T Locations: - p.Gly251Arg (Ensembl:ENST00000572288) - c.751G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1016884739 | 252 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.75) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.3992240C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992240C>T Locations: - p.Val252Met (Ensembl:ENST00000572288) - c.754G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1456924971 | 253 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.87) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.3992236C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992236C>A Locations: - p.Ser253Ile (Ensembl:ENST00000572288) - c.758G>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1456924971 | 253 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.744) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.3992236C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992236C>T Locations: - p.Ser253Asn (Ensembl:ENST00000572288) - c.758G>A (Ensembl:ENST00000572288) Source type: large scale study Cross-references: | |||||||
rs1005470058 | 257 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.3992224G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.3992224G>A Locations: - p.Ser257Leu (Ensembl:ENST00000572288) - c.770C>T (Ensembl:ENST00000572288) Source type: large scale study Cross-references: |