Q99819 · GDIR3_HUMAN
- ProteinRho GDP-dissociation inhibitor 3
- GeneARHGDIG
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids225 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1240587220 | 2 | L>M | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.280684C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280684C>A Locations: - p.Leu2Met (Ensembl:ENST00000219409) - c.4C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1183096443 | 3 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.280688G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280688G>C Locations: - p.Gly3Ala (Ensembl:ENST00000219409) - c.8G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1458567474 | 3 | G>C | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.280687G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280687G>T Locations: - p.Gly3Cys (Ensembl:ENST00000219409) - c.7G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1183096443 | 3 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.280688G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280688G>T Locations: - p.Gly3Val (Ensembl:ENST00000219409) - c.8G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1197982418 | 5 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.280693G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280693G>C Locations: - p.Asp5His (Ensembl:ENST00000219409) - c.13G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1322253660 | 5 | D>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.280694A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280694A>T Locations: - p.Asp5Val (Ensembl:ENST00000219409) - c.14A>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1188505342 | 6 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.280697C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280697C>G Locations: - p.Ala6Gly (Ensembl:ENST00000219409) - c.17C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1446734065 | 6 | A>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.280696G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280696G>T Locations: - p.Ala6Ser (Ensembl:ENST00000219409) - c.16G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1446734065 | 6 | A>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.280696G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280696G>A Locations: - p.Ala6Thr (Ensembl:ENST00000219409) - c.16G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1188505342 | 6 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.280697C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280697C>T Locations: - p.Ala6Val (Ensembl:ENST00000219409) - c.17C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1461307227 | 7 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.280700G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280700G>A Locations: - p.Cys7Tyr (Ensembl:ENST00000219409) - c.20G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1165893740 | 8 | E>K | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.280702G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280702G>A Locations: - p.Glu8Lys (Ensembl:ENST00000219409) - c.22G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1030400927 | 10 | G>A | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.280709G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280709G>C Locations: - p.Gly10Ala (Ensembl:ENST00000219409) - c.29G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1448378087 | 10 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.280708G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280708G>A Locations: - p.Gly10Arg (Ensembl:ENST00000219409) - c.28G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1437890715 | 11 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.280712C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280712C>G Locations: - p.Ala11Gly (Ensembl:ENST00000219409) - c.32C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1330051374 | 11 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.280711G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280711G>A Locations: - p.Ala11Thr (Ensembl:ENST00000219409) - c.31G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1437890715 | 11 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.280712C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280712C>T Locations: - p.Ala11Val (Ensembl:ENST00000219409) - c.32C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1007720400 | 13 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.280717C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280717C>A Locations: - p.Leu13Met (Ensembl:ENST00000219409) - c.37C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1007720400 | 13 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.64) Somatic: No Accession: NC_000016.10:g.280717C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280717C>G Locations: - p.Leu13Val (Ensembl:ENST00000219409) - c.37C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1402635238 | 14 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.280720C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280720C>A Locations: - p.Leu14Met (Ensembl:ENST00000219409) - c.40C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1160732342 | 17 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.280729C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280729C>T Locations: - p.Leu17Phe (Ensembl:ENST00000219409) - c.49C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1379835611 | 18 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.280732C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280732C>G Locations: - p.Arg18Gly (Ensembl:ENST00000219409) - c.52C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1194323586 | 18 | R>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.280733G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280733G>T Locations: - p.Arg18Leu (Ensembl:ENST00000219409) - c.53G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1194323586 | 18 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000016.10:g.280733G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280733G>A Locations: - p.Arg18Gln (Ensembl:ENST00000219409) - c.53G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1379835611 | 18 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.280732C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280732C>T Locations: - p.Arg18Trp (Ensembl:ENST00000219409) - c.52C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052274673 | 20 | A>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.280738G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280738G>A Locations: - p.Ala20Thr (Ensembl:ENST00000219409) - c.58G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs778039543 | 20 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.280739C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280739C>T Locations: - p.Ala20Val (Ensembl:ENST00000219409) - c.59C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs2052274740 | 21 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.280742T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280742T>A Locations: - p.Leu21Gln (Ensembl:ENST00000219409) - c.62T>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2141442945 | 22 | C>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.280745G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280745G>A Locations: - p.Cys22Tyr (Ensembl:ENST00000219409) - c.65G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052274775 | 23 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000016.10:g.280747G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280747G>A Locations: - p.Ala23Thr (Ensembl:ENST00000219409) - c.67G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052274797 | 23 | A>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000016.10:g.280748C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280748C>T Locations: - p.Ala23Val (Ensembl:ENST00000219409) - c.68C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052274813 | 24 | R>G | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.280750C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280750C>G Locations: - p.Arg24Gly (Ensembl:ENST00000219409) - c.70C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052274832 | 24 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.280751G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.280751G>A Locations: - p.Arg24Gln (Ensembl:ENST00000219409) - c.71G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs760173060 | 26 | L>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281749T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281749T>A Locations: - p.Leu26His (Ensembl:ENST00000219409) - c.77T>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs772708545 | 26 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000016.10:g.281748C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281748C>A Locations: - p.Leu26Ile (Ensembl:ENST00000219409) - c.76C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2141444028 | 27 | L>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281752T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281752T>C Locations: - p.Leu27Pro (Ensembl:ENST00000219409) - c.80T>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs766330406 | 28 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.281755C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281755C>T Locations: - p.Ala28Val (Ensembl:ENST00000219409) - c.83C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs776484754 | 29 | D>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281758A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281758A>T Locations: - p.Asp29Val (Ensembl:ENST00000219409) - c.86A>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs759298517 | 30 | K>E | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.281760A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281760A>G Locations: - p.Lys30Glu (Ensembl:ENST00000219409) - c.88A>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1380099332 | 30 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.281762G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281762G>C Locations: - p.Lys30Asn (Ensembl:ENST00000219409) - c.90G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052286425 | 31 | E>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.281763G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281763G>T Locations: - p.Glu31Ter (Ensembl:ENST00000219409) - c.91G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1228707199 | 31 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281764A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281764A>G Locations: - p.Glu31Gly (Ensembl:ENST00000219409) - c.92A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs764978508 | 32 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000016.10:g.281767G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281767G>A Locations: - p.Gly32Asp (Ensembl:ENST00000219409) - c.95G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs764978508 | 32 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.281767G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281767G>T Locations: - p.Gly32Val (Ensembl:ENST00000219409) - c.95G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs199591071 | 33 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000016.10:g.281769G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281769G>A Locations: - p.Gly33Arg (Ensembl:ENST00000219409) - c.97G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs894442219 | 34 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.281773C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281773C>T Locations: - p.Pro34Leu (Ensembl:ENST00000219409) - c.101C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1750250941 | 34 | P>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000016.10:g.281772C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281772C>T Locations: - p.Pro34Ser (Ensembl:ENST00000219409) - c.100C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs556875250 | 35 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.281776C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281776C>T Locations: - p.Pro35Leu (Ensembl:ENST00000219409) - c.104C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs556875250 | 35 | P>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_000016.10:g.281776C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281776C>G Locations: - p.Pro35Arg (Ensembl:ENST00000219409) - c.104C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs750503079 | 35 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.67) Somatic: No Accession: NC_000016.10:g.281775C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281775C>A Locations: - p.Pro35Thr (Ensembl:ENST00000219409) - c.103C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052286840 | 36 | A>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.281778G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281778G>A Locations: - p.Ala36Thr (Ensembl:ENST00000219409) - c.106G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs947007563 | 36 | A>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000016.10:g.281779C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281779C>T Locations: - p.Ala36Val (Ensembl:ENST00000219409) - c.107C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs755561283 | 37 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.281781G>C, NC_000016.10:g.281781G>T Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281781G>C, NC_000016.10:g.281781G>T Locations: - p.Val37Leu (Ensembl:ENST00000219409) - c.109G>C (Ensembl:ENST00000219409) - c.109G>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs748524908 | 38 | D>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.281785A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281785A>C Locations: - p.Asp38Ala (Ensembl:ENST00000219409) - c.113A>C (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs771842809 | 38 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.281786C>G, NC_000016.10:g.281786C>A Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281786C>G, NC_000016.10:g.281786C>A Locations: - p.Asp38Glu (Ensembl:ENST00000219409) - c.114C>G (Ensembl:ENST00000219409) - c.114C>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs748524908 | 38 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.281785A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281785A>G Locations: - p.Asp38Gly (Ensembl:ENST00000219409) - c.113A>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs145631710 | 39 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281787G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281787G>A Locations: - p.Glu39Lys (Ensembl:ENST00000219409) - c.115G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs145631710 | 39 | E>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.281787G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281787G>C Locations: - p.Glu39Gln (Ensembl:ENST00000219409) - c.115G>C (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1360009402 | 40 | V>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.281790G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281790G>T Locations: - p.Val40Leu (Ensembl:ENST00000219409) - c.118G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1277395141 | 41 | L>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000016.10:g.281794T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281794T>C Locations: - p.Leu41Ser (Ensembl:ENST00000219409) - c.122T>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1052796043 | 42 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281796G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281796G>C Locations: - p.Asp42His (Ensembl:ENST00000219409) - c.124G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1885883729 | 43 | E>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.281800A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281800A>C Locations: - p.Glu43Ala (Ensembl:ENST00000219409) - c.128A>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs746508423 | 43 | E>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.281799G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281799G>A Locations: - p.Glu43Lys (Ensembl:ENST00000219409) - c.127G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs999097235 | 44 | A>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: NC_000016.10:g.281802G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281802G>A Locations: - p.Ala44Thr (Ensembl:ENST00000219409) - c.130G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs770390691 | 44 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000016.10:g.281803C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281803C>T Locations: - p.Ala44Val (Ensembl:ENST00000219409) - c.131C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1216997518 | 46 | P>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.281809C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281809C>A Locations: - p.Pro46His (Ensembl:ENST00000219409) - c.137C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1216997518 | 46 | P>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.88) Somatic: No Accession: NC_000016.10:g.281809C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281809C>T Locations: - p.Pro46Leu (Ensembl:ENST00000219409) - c.137C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052287449 | 46 | P>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.281808C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281808C>T Locations: - p.Pro46Ser (Ensembl:ENST00000219409) - c.136C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs775199400 | 47 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.281813G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281813G>C Locations: - p.Glu47Asp (Ensembl:ENST00000219409) - c.141G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs765174306 | 47 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.281811G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281811G>A Locations: - p.Glu47Lys (Ensembl:ENST00000219409) - c.139G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs141891388 | 49 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281818G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281818G>T Locations: - p.Arg49Leu (Ensembl:ENST00000219409) - c.146G>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs141891388 | 49 | R>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281818G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281818G>C Locations: - p.Arg49Pro (Ensembl:ENST00000219409) - c.146G>C (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs141891388 | 49 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000016.10:g.281818G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281818G>A Locations: - p.Arg49Gln (Ensembl:ENST00000219409) - c.146G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs762793508 | 49 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281817C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281817C>T Locations: - p.Arg49Trp (Ensembl:ENST00000219409) - c.145C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs150651820 | 50 | A>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281821C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281821C>A Locations: - p.Ala50Glu (Ensembl:ENST00000219409) - c.149C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs150651820 | 50 | A>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281821C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281821C>G Locations: - p.Ala50Gly (Ensembl:ENST00000219409) - c.149C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs150651820 | 50 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.281821C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281821C>T Locations: - p.Ala50Val (Ensembl:ENST00000219409) - c.149C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs755466026 | 51 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281824C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281824C>T Locations: - p.Pro51Leu (Ensembl:ENST00000219409) - c.152C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs777454652 | 52 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.281827G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281827G>C Locations: - p.Gly52Ala (Ensembl:ENST00000219409) - c.155G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs758886390 TCGA novel | 52 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.281826G>C, NC_000016.10:g.281826G>A Codon: GGG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281826G>C, NC_000016.10:g.281826G>A Locations: - p.Gly52Arg (Ensembl:ENST00000219409) - c.154G>C (Ensembl:ENST00000219409) - p.G52R (NCI-TCGA:ENST00000219409) - c.154G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1382972546 | 53 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000016.10:g.281830G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281830G>A Locations: - p.Arg53Lys (Ensembl:ENST00000219409) - c.158G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052288250 | 56 | L>F | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281838C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281838C>T Locations: - p.Leu56Phe (Ensembl:ENST00000219409) - c.166C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
COSV54732636 | 58 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000016.10:g.281846G>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281846G>T Locations: - c.174G>T (NCI-TCGA:ENST00000219409) - p.E58D (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052288369 | 58 | E>G | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281845A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281845A>G Locations: - p.Glu58Gly (Ensembl:ENST00000219409) - c.173A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1596935985 | 58 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.281844G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281844G>C Locations: - p.Glu58Gln (Ensembl:ENST00000219409) - c.172G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052288369 | 58 | E>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281845A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281845A>T Locations: - p.Glu58Val (Ensembl:ENST00000219409) - c.173A>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs201597842 | 60 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.281851G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281851G>A Locations: - p.Arg60Gln (Ensembl:ENST00000219409) - c.179G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs114176225 | 60 | R>W | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.281850C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281850C>T Locations: - p.Arg60Trp (Ensembl:ENST00000219409) - c.178C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs768293890 | 61 | Q>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281854A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281854A>C Locations: - p.Gln61Pro (Ensembl:ENST00000219409) - c.182A>C (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs768293890 | 61 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.281854A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281854A>G Locations: - p.Gln61Arg (Ensembl:ENST00000219409) - c.182A>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs2141444202 | 63 | D>H | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281859G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281859G>C Locations: - p.Asp63His (Ensembl:ENST00000219409) - c.187G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs774217485 | 64 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.281863C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281863C>T Locations: - p.Pro64Leu (Ensembl:ENST00000219409) - c.191C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs774217485 | 64 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.281863C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281863C>A Locations: - p.Pro64Gln (Ensembl:ENST00000219409) - c.191C>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs149498191 | 65 | D>E | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000016.10:g.281867C>A, NC_000016.10:g.281867C>G Codon: GAC/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281867C>A, NC_000016.10:g.281867C>G Locations: - p.Asp65Glu (Ensembl:ENST00000219409) - c.195C>A (Ensembl:ENST00000219409) - c.195C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs760748300 | 65 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.281866A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281866A>G Locations: - p.Asp65Gly (Ensembl:ENST00000219409) - c.194A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052288685 | 65 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.281865G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281865G>C Locations: - p.Asp65His (Ensembl:ENST00000219409) - c.193G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052288685 | 65 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.281865G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281865G>A Locations: - p.Asp65Asn (Ensembl:ENST00000219409) - c.193G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs765821517 | 66 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281870C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281870C>G Locations: - p.Asp66Glu (Ensembl:ENST00000219409) - c.198C>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1181768791 | 66 | D>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.281868G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281868G>A Locations: - p.Asp66Asn (Ensembl:ENST00000219409) - c.196G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1242401667 | 67 | R>G | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.281871A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281871A>G Locations: - p.Arg67Gly (Ensembl:ENST00000219409) - c.199A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1450456564 | 68 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281875G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281875G>A Locations: - p.Ser68Asn (Ensembl:ENST00000219409) - c.203G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs867998876 | 70 | A>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.7) Somatic: No Accession: NC_000016.10:g.281880G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281880G>A Locations: - p.Ala70Thr (Ensembl:ENST00000219409) - c.208G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs753300269 | 70 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000016.10:g.281881C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281881C>T Locations: - p.Ala70Val (Ensembl:ENST00000219409) - c.209C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1469708666 | 71 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.281883A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281883A>C Locations: - p.Lys71Gln (Ensembl:ENST00000219409) - c.211A>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs758978302 | 74 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.281892C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281892C>G Locations: - p.Arg74Gly (Ensembl:ENST00000219409) - c.220C>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs777953367 | 74 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.281893G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281893G>T Locations: - p.Arg74Leu (Ensembl:ENST00000219409) - c.221G>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs777953367 | 74 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.281893G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281893G>A Locations: - p.Arg74Gln (Ensembl:ENST00000219409) - c.221G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs758978302 | 74 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.281892C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281892C>T Locations: - p.Arg74Trp (Ensembl:ENST00000219409) - c.220C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1243090835 | 75 | V>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.281896T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281896T>G Locations: - p.Val75Gly (Ensembl:ENST00000219409) - c.224T>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1253796678 | 75 | V>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.281895G>T, NC_000016.10:g.281895G>C Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281895G>T, NC_000016.10:g.281895G>C Locations: - p.Val75Leu (Ensembl:ENST00000219409) - c.223G>T (Ensembl:ENST00000219409) - c.223G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052289422 | 79 | P>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000016.10:g.281907C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281907C>T Locations: - p.Pro79Ser (Ensembl:ENST00000219409) - c.235C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
TCGA novel | 80 | L>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000016.10:g.281907_281908del Consequence type: frameshift Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281907_281908del Locations: - c.237_238del (NCI-TCGA:ENST00000219409) - p.L80Afs*50 (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs894566263 | 81 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.281914C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281914C>T Locations: - p.Pro81Leu (Ensembl:ENST00000219409) - c.242C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1445443888 | 81 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.281913C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281913C>T Locations: - p.Pro81Ser (Ensembl:ENST00000219409) - c.241C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1445443888 | 81 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.281913C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281913C>A Locations: - p.Pro81Thr (Ensembl:ENST00000219409) - c.241C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs771042604 | 82 | P>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000016.10:g.281917C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281917C>T Locations: - p.Pro82Leu (Ensembl:ENST00000219409) - c.245C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs771042604 | 82 | P>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.281917C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281917C>G Locations: - p.Pro82Arg (Ensembl:ENST00000219409) - c.245C>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1596936159 | 84 | V>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.281923T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281923T>C Locations: - p.Val84Ala (Ensembl:ENST00000219409) - c.251T>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1596936159 | 84 | V>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.281923T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281923T>G Locations: - p.Val84Gly (Ensembl:ENST00000219409) - c.251T>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs765370268 | 84 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.281922G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.281922G>A Locations: - p.Val84Met (Ensembl:ENST00000219409) - c.250G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1596936371 | 85 | D>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282025A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282025A>C Locations: - p.Asp85Ala (Ensembl:ENST00000219409) - c.254A>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs767819340 | 86 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000016.10:g.282027C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282027C>G Locations: - p.Pro86Ala (Ensembl:ENST00000219409) - c.256C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs200015949 | 86 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.282028C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282028C>T Locations: - p.Pro86Leu (Ensembl:ENST00000219409) - c.257C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs200015949 | 86 | P>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282028C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282028C>A Locations: - p.Pro86Gln (Ensembl:ENST00000219409) - c.257C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs200015949 | 86 | P>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282028C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282028C>G Locations: - p.Pro86Arg (Ensembl:ENST00000219409) - c.257C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1340291464 | 89 | P>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.282037C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282037C>T Locations: - p.Pro89Leu (Ensembl:ENST00000219409) - c.266C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1280664020 | 90 | N>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282040A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282040A>G Locations: - p.Asn90Ser (Ensembl:ENST00000219409) - c.269A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1234837791 | 91 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282042G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282042G>A Locations: - p.Val91Met (Ensembl:ENST00000219409) - c.271G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs147198180 | 92 | Q>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.282045C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282045C>A Locations: - p.Gln92Lys (Ensembl:ENST00000219409) - c.274C>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1596936417 | 92 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.282046A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282046A>T Locations: - p.Gln92Leu (Ensembl:ENST00000219409) - c.275A>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052291691 | 94 | T>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282051A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282051A>G Locations: - p.Thr94Ala (Ensembl:ENST00000219409) - c.280A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs886364883 | 95 | R>K | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.282055G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282055G>A Locations: - p.Arg95Lys (Ensembl:ENST00000219409) - c.284G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs376514597 | 97 | T>R | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282061C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282061C>G Locations: - p.Thr97Arg (Ensembl:ENST00000219409) - c.290C>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1201244438 | 98 | L>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282063C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282063C>T Locations: - p.Leu98Phe (Ensembl:ENST00000219409) - c.292C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs964452083 | 100 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282070C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282070C>T Locations: - p.Ser100Leu (Ensembl:ENST00000219409) - c.299C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
COSV54731673 | 101 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000016.10:g.282072G>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282072G>A Locations: - c.301G>A (NCI-TCGA:ENST00000219409) - p.E101K (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1431233350 | 103 | A>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282078G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282078G>A Locations: - p.Ala103Thr (Ensembl:ENST00000219409) - c.307G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052291933 | 103 | A>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282079C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282079C>T Locations: - p.Ala103Val (Ensembl:ENST00000219409) - c.308C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1173917424 | 104 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282081C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282081C>G Locations: - p.Pro104Ala (Ensembl:ENST00000219409) - c.310C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs140573990 | 104 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282082C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282082C>T Locations: - p.Pro104Leu (Ensembl:ENST00000219409) - c.311C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1173917424 | 104 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.282081C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282081C>T Locations: - p.Pro104Ser (Ensembl:ENST00000219409) - c.310C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1286392197 | 105 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000016.10:g.282085G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282085G>A Locations: - p.Gly105Glu (Ensembl:ENST00000219409) - c.314G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs867453530 | 105 | G>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.282084G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282084G>A Locations: - p.Gly105Arg (Ensembl:ENST00000219409) - c.313G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052292172 | 106 | P>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.282088C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282088C>T Locations: - p.Pro106Leu (Ensembl:ENST00000219409) - c.317C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052292157 | 106 | P>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282087C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282087C>A Locations: - p.Pro106Thr (Ensembl:ENST00000219409) - c.316C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1359434400 | 107 | V>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282091T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282091T>C Locations: - p.Val107Ala (Ensembl:ENST00000219409) - c.320T>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs565538630 | 107 | V>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.282090G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282090G>A Locations: - p.Val107Ile (Ensembl:ENST00000219409) - c.319G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs148414600 | 108 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.282093G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282093G>A Locations: - p.Val108Ile (Ensembl:ENST00000219409) - c.322G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs148414600 | 108 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282093G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282093G>C Locations: - p.Val108Leu (Ensembl:ENST00000219409) - c.322G>C (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1192579244 | 109 | M>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.282098G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282098G>C Locations: - p.Met109Ile (Ensembl:ENST00000219409) - c.327G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1386692591 | 112 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.282105A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282105A>G Locations: - p.Thr112Ala (Ensembl:ENST00000219409) - c.334A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1242380858 | 114 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282299G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282299G>C Locations: - p.Asp114His (Ensembl:ENST00000219409) - c.340G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1281431671 | 115 | L>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.282302C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282302C>G Locations: - p.Leu115Val (Ensembl:ENST00000219409) - c.343C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs868311072 | 116 | A>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000016.10:g.282305G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282305G>T Locations: - p.Ala116Ser (Ensembl:ENST00000219409) - c.346G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
TCGA novel | 116 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000016.10:g.282305G>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282305G>A Locations: - c.346G>A (NCI-TCGA:ENST00000219409) - p.A116T (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1567248065 | 116 | A>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.282306C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282306C>T Locations: - p.Ala116Val (Ensembl:ENST00000219409) - c.347C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052294500 | 118 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.282312T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282312T>A Locations: - p.Leu118Gln (Ensembl:ENST00000219409) - c.353T>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs777858497 | 118 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282311C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282311C>G Locations: - p.Leu118Val (Ensembl:ENST00000219409) - c.352C>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs2052294557 | 120 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282317G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282317G>T Locations: - p.Asp120Tyr (Ensembl:ENST00000219409) - c.358G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs150946433 | 124 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282329G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282329G>C Locations: - p.Val124Leu (Ensembl:ENST00000219409) - c.370G>C (Ensembl:ENST00000219409) Source type: large scale study | |||||||
COSV54733606 | 126 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.282337G>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282337G>T Locations: - c.378G>T (NCI-TCGA:ENST00000219409) - p.K126N (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: | |||||||
TCGA novel | 127 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282339A>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282339A>G Locations: - c.380A>G (NCI-TCGA:ENST00000219409) - p.E127G (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2052294815 | 128 | G>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.282342G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282342G>C Locations: - p.Gly128Ala (Ensembl:ENST00000219409) - c.383G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
COSV54733582 | 128 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.282341G>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282341G>T Locations: - c.382G>T (NCI-TCGA:ENST00000219409) - p.G128C (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs769474713 | 129 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.282344G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282344G>A Locations: - p.Val129Ile (Ensembl:ENST00000219409) - c.385G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1016554903 | 130 | D>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.282347G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282347G>A Locations: - p.Asp130Asn (Ensembl:ENST00000219409) - c.388G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052294962 | 130 | D>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.282348A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282348A>T Locations: - p.Asp130Val (Ensembl:ENST00000219409) - c.389A>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs775334163 | 131 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282350T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282350T>C Locations: - p.Tyr131His (Ensembl:ENST00000219409) - c.391T>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1233129636 | 132 | R>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282355A>C Codon: AGA/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282355A>C Locations: - p.Arg132Ser (Ensembl:ENST00000219409) - c.396A>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs763648457 | 133 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282357T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282357T>G Locations: - p.Val133Gly (Ensembl:ENST00000219409) - c.398T>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
TCGA novel | 134 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282361G>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282361G>T Locations: - c.402G>T (NCI-TCGA:ENST00000219409) - p.K134N (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1180524598 | 134 | K>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.282360A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282360A>G Locations: - p.Lys134Arg (Ensembl:ENST00000219409) - c.401A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs774010528 | 135 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282364C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282364C>G Locations: - p.Ile135Met (Ensembl:ENST00000219409) - c.405C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1284041852 | 135 | I>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282363T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282363T>C Locations: - p.Ile135Thr (Ensembl:ENST00000219409) - c.404T>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2141444782 | 136 | S>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.81) Somatic: No Accession: NC_000016.10:g.282365T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282365T>A Locations: - p.Ser136Thr (Ensembl:ENST00000219409) - c.406T>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1596937051 | 140 | H>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282471A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282471A>C Locations: - p.His140Pro (Ensembl:ENST00000219409) - c.419A>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1468611692 | 140 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282472C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282472C>G Locations: - p.His140Gln (Ensembl:ENST00000219409) - c.420C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1477093808 | 141 | R>K | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.8) Somatic: No Accession: NC_000016.10:g.282474G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282474G>A Locations: - p.Arg141Lys (Ensembl:ENST00000219409) - c.422G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
COSV51985705 | 142 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.682) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.282476G>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282476G>A Locations: - c.424G>A (NCI-TCGA:ENST00000219409) - p.E142K (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs868150795 | 144 | V>I | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282482G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282482G>A Locations: - p.Val144Ile (Ensembl:ENST00000219409) - c.430G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1239755590 | 145 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282486G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282486G>A Locations: - p.Ser145Asn (Ensembl:ENST00000219409) - c.434G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs781704087 | 145 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282487C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282487C>A Locations: - p.Ser145Arg (Ensembl:ENST00000219409) - c.435C>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs756656270 | 146 | G>D | ExAC | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282489G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282489G>A Locations: - p.Gly146Asp (Ensembl:ENST00000219409) - c.437G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs143766514 | 146 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282488G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282488G>C Locations: - p.Gly146Arg (Ensembl:ENST00000219409) - c.436G>C (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs143766514 | 146 | G>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282488G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282488G>A Locations: - p.Gly146Ser (Ensembl:ENST00000219409) - c.436G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs756656270 | 146 | G>V | ExAC | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282489G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282489G>T Locations: - p.Gly146Val (Ensembl:ENST00000219409) - c.437G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs780497810 | 147 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282491C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282491C>T Locations: - p.Leu147Phe (Ensembl:ENST00000219409) - c.439C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs768409191 | 148 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000016.10:g.282495A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282495A>G Locations: - p.Lys148Arg (Ensembl:ENST00000219409) - c.443A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1304952194 | 149 | C>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.282497T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282497T>G Locations: - p.Cys149Gly (Ensembl:ENST00000219409) - c.445T>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1371344808 | 150 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.97) Somatic: No Accession: NC_000016.10:g.282500C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282500C>G Locations: - p.Leu150Val (Ensembl:ENST00000219409) - c.448C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs201950145 | 151 | H>Y | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282503C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282503C>T Locations: - p.His151Tyr (Ensembl:ENST00000219409) - c.451C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs747659030 | 152 | H>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000016.10:g.282506C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282506C>G Locations: - p.His152Asp (Ensembl:ENST00000219409) - c.454C>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs747659030 | 152 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.84) Somatic: No Accession: NC_000016.10:g.282506C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282506C>T Locations: - p.His152Tyr (Ensembl:ENST00000219409) - c.454C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs760475193 | 153 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.282510C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282510C>T Locations: - p.Thr153Ile (Ensembl:ENST00000219409) - c.458C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs772798542 | 153 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.282509A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282509A>T Locations: - p.Thr153Ser (Ensembl:ENST00000219409) - c.457A>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs760475193 | 153 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.282510C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282510C>G Locations: - p.Thr153Ser (Ensembl:ENST00000219409) - c.458C>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs376348467 | 155 | R>C | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282515C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282515C>T Locations: - p.Arg155Cys (Ensembl:ENST00000219409) - c.463C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs963397973 | 155 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00000841 (gnomAD) Accession: NC_000016.10:g.282516G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282516G>A Locations: - p.R155H (NCI-TCGA:ENST00000219409) - p.Arg155His (Ensembl:ENST00000219409) - c.464G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs963397973 | 155 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282516G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282516G>T Locations: - p.Arg155Leu (Ensembl:ENST00000219409) - c.464G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs376348467 | 155 | R>S | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282515C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282515C>A Locations: - p.Arg155Ser (Ensembl:ENST00000219409) - c.463C>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs764280047 | 156 | R>L | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282519G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282519G>T Locations: - p.Arg156Leu (Ensembl:ENST00000219409) - c.467G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs764280047 | 156 | R>Q | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.282519G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282519G>A Locations: - p.Arg156Gln (Ensembl:ENST00000219409) - c.467G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs759388293 | 156 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282518C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282518C>T Locations: - p.Arg156Trp (Ensembl:ENST00000219409) - c.466C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1567248181 | 157 | G>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282522G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282522G>T Locations: - p.Gly157Val (Ensembl:ENST00000219409) - c.470G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs762129264 | 159 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.282527C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282527C>T Locations: - p.Arg159Cys (Ensembl:ENST00000219409) - c.475C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1403515610 | 159 | R>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.282528G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282528G>A Locations: - p.Arg159His (Ensembl:ENST00000219409) - c.476G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1394575579 | 160 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.282530G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282530G>A Locations: - p.Val160Met (Ensembl:ENST00000219409) - c.478G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1345828891 | 161 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282618A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282618A>G Locations: - p.Asp161Gly (Ensembl:ENST00000219409) - c.482A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1398681991 | 162 | K>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282620A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282620A>G Locations: - p.Lys162Glu (Ensembl:ENST00000219409) - c.484A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052300054 | 163 | T>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.282623A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282623A>G Locations: - p.Thr163Ala (Ensembl:ENST00000219409) - c.487A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs201741302 | 164 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.2) - SIFT: tolerated (0.24) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000016.10:g.282626G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282626G>A Locations: - p.V164I (NCI-TCGA:ENST00000219409) - p.Val164Ile (Ensembl:ENST00000219409) - c.490G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs780624082 | 166 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282634G>T, NC_000016.10:g.282634G>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282634G>T, NC_000016.10:g.282634G>A Locations: - p.Met166Ile (Ensembl:ENST00000219409) - c.498G>T (Ensembl:ENST00000219409) - c.498G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs145921827 | 166 | M>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282632A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282632A>G Locations: - p.Met166Val (Ensembl:ENST00000219409) - c.496A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
TCGA novel | 167 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.282635G>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282635G>A Locations: - c.499G>A (NCI-TCGA:ENST00000219409) - p.V167M (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1487958591 | 171 | G>C | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282647G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282647G>T Locations: - p.Gly171Cys (Ensembl:ENST00000219409) - c.511G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs745448650 | 171 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282648G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282648G>T Locations: - p.Gly171Val (Ensembl:ENST00000219409) - c.512G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs755991216 | 172 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282651C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282651C>T Locations: - p.Pro172Leu (Ensembl:ENST00000219409) - c.515C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs138141299 | 173 | S>R | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.282655C>G, NC_000016.10:g.282655C>A Codon: AGC/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282655C>G, NC_000016.10:g.282655C>A Locations: - p.Ser173Arg (Ensembl:ENST00000219409) - c.519C>G (Ensembl:ENST00000219409) - c.519C>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs771280898 | 174 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.282656G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282656G>A Locations: - p.Ala174Thr (Ensembl:ENST00000219409) - c.520G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs776848516 | 174 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.282657C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282657C>T Locations: - p.Ala174Val (Ensembl:ENST00000219409) - c.521C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052300477 | 175 | Q>R | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.282660A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282660A>G Locations: - p.Gln175Arg (Ensembl:ENST00000219409) - c.524A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs759751565 | 176 | E>A | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282663A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282663A>C Locations: - p.Glu176Ala (Ensembl:ENST00000219409) - c.527A>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1360286041 | 176 | E>D | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282664G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282664G>C Locations: - p.Glu176Asp (Ensembl:ENST00000219409) - c.528G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1291158503 | 178 | E>D | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.282670G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282670G>T Locations: - p.Glu178Asp (Ensembl:ENST00000219409) - c.534G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052300570 | 180 | V>M | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.282674G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282674G>A Locations: - p.Val180Met (Ensembl:ENST00000219409) - c.538G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs143239787 | 182 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282681C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282681C>T Locations: - p.Pro182Leu (Ensembl:ENST00000219409) - c.545C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1373537130 | 183 | V>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000016.10:g.282684T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282684T>C Locations: - p.Val183Ala (Ensembl:ENST00000219409) - c.548T>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1204654222 | 185 | E>D | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.282691A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282691A>T Locations: - p.Glu185Asp (Ensembl:ENST00000219409) - c.555A>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs764471424 | 185 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282689G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282689G>A Locations: - p.Glu185Lys (Ensembl:ENST00000219409) - c.553G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs751743144 | 186 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282693C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282693C>G Locations: - p.Ala186Gly (Ensembl:ENST00000219409) - c.557C>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1352728047 | 186 | A>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.282692G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282692G>A Locations: - p.Ala186Thr (Ensembl:ENST00000219409) - c.556G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
COSV51988995 rs751743144 | 186 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.08) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.00005948 (gnomAD) Accession: NC_000016.10:g.282693C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282693C>T Locations: - p.A186V (NCI-TCGA:ENST00000219409) - p.Ala186Val (Ensembl:ENST00000219409) - c.557C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1486138480 | 187 | P>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282696C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282696C>T Locations: - p.Pro187Leu (Ensembl:ENST00000219409) - c.560C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052300915 | 190 | A>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.282704G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282704G>A Locations: - p.Ala190Thr (Ensembl:ENST00000219409) - c.568G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs749911819 | 190 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.41) Somatic: No Accession: NC_000016.10:g.282705C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282705C>T Locations: - p.Ala190Val (Ensembl:ENST00000219409) - c.569C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs779461541 | 192 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.282711T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282711T>C Locations: - p.Val192Ala (Ensembl:ENST00000219409) - c.575T>C (Ensembl:ENST00000219409) Source type: large scale study | |||||||
COSV99249888 | 192 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.796) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000016.10:g.282710G>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282710G>A Locations: - c.574G>A (NCI-TCGA:ENST00000219409) - p.V192M (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs754881737 | 193 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282714G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282714G>T Locations: - p.Arg193Leu (Ensembl:ENST00000219409) - c.578G>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs754881737 | 193 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282714G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282714G>A Locations: - p.Arg193Gln (Ensembl:ENST00000219409) - c.578G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs537147515 | 193 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000016.10:g.282713C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282713C>T Locations: - p.R193W (NCI-TCGA:ENST00000219409) - p.Arg193Trp (Ensembl:ENST00000219409) - c.577C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs202105093 | 195 | P>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_000016.10:g.282719C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282719C>G Locations: - p.Pro195Ala (Ensembl:ENST00000219409) - c.583C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1291927506 | 195 | P>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.49) Somatic: No Accession: NC_000016.10:g.282720C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282720C>A Locations: - p.Pro195His (Ensembl:ENST00000219409) - c.584C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1291927506 | 195 | P>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000016.10:g.282720C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282720C>G Locations: - p.Pro195Arg (Ensembl:ENST00000219409) - c.584C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs202105093 | 195 | P>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.77) Somatic: No Accession: NC_000016.10:g.282719C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282719C>T Locations: - p.Pro195Ser (Ensembl:ENST00000219409) - c.583C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs202105093 | 195 | P>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.282719C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282719C>A Locations: - p.Pro195Thr (Ensembl:ENST00000219409) - c.583C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1441647512 | 196 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282723A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282723A>G Locations: - p.Tyr196Cys (Ensembl:ENST00000219409) - c.587A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
TCGA novel | 197 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.537) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.282725C>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282725C>A Locations: - c.589C>A (NCI-TCGA:ENST00000219409) - p.L197M (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1374895743 | 199 | V>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282732T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282732T>C Locations: - p.Val199Ala (Ensembl:ENST00000219409) - c.596T>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs771266888 | 199 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282731G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282731G>A Locations: - p.Val199Met (Ensembl:ENST00000219409) - c.595G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1308855135 | 201 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.82) Somatic: No Accession: NC_000016.10:g.282737C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282737C>T Locations: - p.Leu201Phe (Ensembl:ENST00000219409) - c.601C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1308855135 | 201 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: NC_000016.10:g.282737C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282737C>G Locations: - p.Leu201Val (Ensembl:ENST00000219409) - c.601C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052301297 | 202 | F>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.282742C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282742C>A Locations: - p.Phe202Leu (Ensembl:ENST00000219409) - c.606C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs375447900 | 203 | T>I | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.282744C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282744C>T Locations: - p.Thr203Ile (Ensembl:ENST00000219409) - c.608C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs970617614 | 203 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282743A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282743A>T Locations: - p.Thr203Ser (Ensembl:ENST00000219409) - c.607A>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
TCGA novel | 204 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282748C>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282748C>A Locations: - c.612C>A (NCI-TCGA:ENST00000219409) - p.D204E (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1189865386 | 204 | D>N | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282746G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282746G>A Locations: - p.Asp204Asn (Ensembl:ENST00000219409) - c.610G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs775454449 | 204 | D>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282747A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282747A>T Locations: - p.Asp204Val (Ensembl:ENST00000219409) - c.611A>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs769049792 | 205 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282749G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282749G>A Locations: - p.Asp205Asn (Ensembl:ENST00000219409) - c.613G>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs774696298 | 206 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282754C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282754C>G Locations: - p.Asp206Glu (Ensembl:ENST00000219409) - c.618C>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1179379454 | 207 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282755A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282755A>G Locations: - p.Arg207Gly (Ensembl:ENST00000219409) - c.619A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs143125556 | 208 | T>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000016.10:g.282758A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282758A>G Locations: - p.Thr208Ala (Ensembl:ENST00000219409) - c.622A>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs147188285 | 208 | T>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.282759C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282759C>T Locations: - p.Thr208Met (Ensembl:ENST00000219409) - c.623C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs374956783 | 209 | H>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.282761C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282761C>G Locations: - p.His209Asp (Ensembl:ENST00000219409) - c.625C>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs1462058020 | 209 | H>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.282762A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282762A>T Locations: - p.His209Leu (Ensembl:ENST00000219409) - c.626A>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs368721968 | 209 | H>Q | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.282763C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282763C>G Locations: - p.His209Gln (Ensembl:ENST00000219409) - c.627C>G (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs374956783 | 209 | H>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282761C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282761C>T Locations: - p.His209Tyr (Ensembl:ENST00000219409) - c.625C>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs201607929 | 210 | H>Y | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000016.10:g.282764C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282764C>T Locations: - p.His210Tyr (Ensembl:ENST00000219409) - c.628C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs961808080 | 213 | W>C | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282775G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282775G>T Locations: - p.Trp213Cys (Ensembl:ENST00000219409) - c.639G>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs754936919 | 214 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.282777A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282777A>C Locations: - p.Glu214Ala (Ensembl:ENST00000219409) - c.641A>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
COSV51987809 | 215 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000016.10:g.282780G>A Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282780G>A Locations: - c.644G>A (NCI-TCGA:ENST00000219409) - p.W215* (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs779054675 | 216 | G>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.282782G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282782G>T Locations: - p.Gly216Cys (Ensembl:ENST00000219409) - c.646G>T (Ensembl:ENST00000219409) Source type: large scale study | |||||||
rs779054675 | 216 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000016.10:g.282782G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282782G>A Locations: - p.Gly216Ser (Ensembl:ENST00000219409) - c.646G>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
TCGA novel | 217 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.556) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.282785C>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282785C>A Locations: - c.649C>A (NCI-TCGA:ENST00000219409) - p.L217I (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2141445417 | 218 | C>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000016.10:g.282788T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282788T>C Locations: - p.Cys218Arg (Ensembl:ENST00000219409) - c.652T>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2052301819 | 218 | C>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.8) Somatic: No Accession: NC_000016.10:g.282789G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282789G>C Locations: - p.Cys218Ser (Ensembl:ENST00000219409) - c.653G>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs991963114 | 219 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282792T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282792T>C Locations: - p.Ile219Thr (Ensembl:ENST00000219409) - c.656T>C (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs777745726 | 219 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.282791A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282791A>G Locations: - p.Ile219Val (Ensembl:ENST00000219409) - c.655A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs746053875 | 221 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.282797C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282797C>T Locations: - p.Gln221Ter (Ensembl:ENST00000219409) - c.661C>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs746053875 | 221 | Q>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.282797C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282797C>A Locations: - p.Gln221Lys (Ensembl:ENST00000219409) - c.661C>A (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs200723353 | 222 | D>E | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000016.10:g.282802C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282802C>A Locations: - p.Asp222Glu (Ensembl:ENST00000219409) - c.666C>A (Ensembl:ENST00000219409) Source type: large scale study | |||||||
COSV51982989 | 222 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.282800G>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282800G>T Locations: - c.664G>T (NCI-TCGA:ENST00000219409) - p.D222Y (NCI-TCGA:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs2141445440 | 223 | W>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282803T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282803T>G Locations: - p.Trp223Gly (Ensembl:ENST00000219409) - c.667T>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs1354713433 | 224 | K>M | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.282807A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282807A>T Locations: - p.Lys224Met (Ensembl:ENST00000219409) - c.671A>T (Ensembl:ENST00000219409) Source type: large scale study Cross-references: | |||||||
rs112243266 | 225 | D>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.282810A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.282810A>G Locations: - p.Asp225Gly (Ensembl:ENST00000219409) - c.674A>G (Ensembl:ENST00000219409) Source type: large scale study Cross-references: |