C9JR33 · C9JR33_HUMAN
- ProteinNAD-dependent protein deacetylase sirtuin-2
- GeneSIRT2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1973613494 | 2 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.38893525C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893525C>T Locations: - p.Asp2Asn (Ensembl:ENST00000447739) - c.4G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs765083798 | 5 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.593) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303187C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303187C>A Locations: - p.Arg5Leu (Ensembl:ENST00000635192) - c.14G>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs765083798 | 5 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: tolerated (0.09) Somatic: No Accession: NW_014040929.1:g.303187C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303187C>T Locations: - p.Arg5Gln (Ensembl:ENST00000635192) - c.14G>A (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs200012062 | 5 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.38893515C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893515C>T Locations: - p.Arg5Gln (Ensembl:ENST00000447739) - c.14G>A (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs765083798 | 5 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.38893516G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893516G>A Locations: - p.Arg5Trp (Ensembl:ENST00000447739) - c.13C>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs2144697716 | 6 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.388) - SIFT: deleterious (0.02) Somatic: No Accession: NW_014040929.1:g.303185T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303185T>G Locations: - p.Asn6His (Ensembl:ENST00000635192) - c.16A>C (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
COSV50876682 RCV000955223 rs45535036 | 7 | L>F | Benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: Yes Population frequencies: - MAF: 0.01078 (ClinVar) Accession: NC_000019.10:g.38893508T>A Codon: TTA/TTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893508T>A Locations: - p.Leu7Phe (Ensembl:ENST00000447739) - c.21A>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs200819077 | 8 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000019.10:g.38893507A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893507A>G Locations: - p.Phe8Leu (Ensembl:ENST00000447739) - c.22T>C (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs200819077 | 8 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303178A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303178A>G Locations: - p.Phe8Ser (Ensembl:ENST00000635192) - c.23T>C (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1600126405 | 10 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NW_014040929.1:g.303173G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NW_014040929.1:g.303173G>A Locations: - p.Gln10Ter (Ensembl:ENST00000635192) - c.28C>T (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs376694959 | 11 | T>M | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.38893497G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893497G>A Locations: - p.Thr11Met (Ensembl:ENST00000447739) - c.32C>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs760784746 | 12 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: deleterious (0.04) Somatic: No Accession: NW_014040929.1:g.303167G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303167G>A Locations: - p.Leu12Phe (Ensembl:ENST00000635192) - c.34C>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs1201810649 | 12 | L>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303166A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303166A>T Locations: - p.Leu12His (Ensembl:ENST00000635192) - c.35T>A (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
COSV50874671 rs1201810649 | 12 | L>I | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.38893495G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893495G>T Locations: - p.Leu12Ile (Ensembl:ENST00000447739) - c.34C>A (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs760784746 | 12 | L>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: deleterious (0.01) Somatic: No Accession: NW_014040929.1:g.303167G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303167G>T Locations: - p.Leu12Ile (Ensembl:ENST00000635192) - c.34C>A (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs546115964 | 13 | S>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.38893492T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893492T>C Locations: - p.Ser13Gly (Ensembl:ENST00000447739) - c.37A>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs543937371 | 14 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.38893488A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893488A>G Locations: - p.Leu14Pro (Ensembl:ENST00000447739) - c.41T>C (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs575999768 | 14 | L>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303160A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303160A>C Locations: - p.Leu14Arg (Ensembl:ENST00000635192) - c.41T>G (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs575999768 | 14 | L>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.38893489G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893489G>C Locations: - p.Leu14Val (Ensembl:ENST00000447739) - c.40C>G (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs1973611947 | 15 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.08) Somatic: No Accession: NW_014040929.1:g.303158C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303158C>T Locations: - p.Gly15Ser (Ensembl:ENST00000635192) - c.43G>A (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
COSV107219896 rs762039728 | 18 | K>N | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.31) Somatic: Yes Accession: NC_000019.10:g.38893475C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893475C>A Locations: - p.Lys18Asn (Ensembl:ENST00000447739) - c.54G>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs762039728 | 19 | E>* | ExAC gnomAD | ||||
Consequence: missense Somatic: No Accession: NW_014040929.1:g.303146C>A Codon: GAG/TAG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303146C>A Locations: - p.Glu19Ter (Ensembl:ENST00000635192) - c.55G>T (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
COSV50878101 rs774515802 | 20 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.29) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.38893471G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893471G>A Locations: - p.R20C (NCI-TCGA:ENST00000447739) - p.Arg20Cys (Ensembl:ENST00000447739) - c.58C>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs774515802 | 20 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303142C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303142C>T Locations: - p.Arg20His (Ensembl:ENST00000635192) - c.59G>A (Ensembl:ENST00000635192) Source type: large scale study | |||||||
COSV105857474 rs139357839 | 20 | R>H | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.38893470C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893470C>T Locations: - p.Arg20His (Ensembl:ENST00000447739) - c.59G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs774515802 | 20 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303142C>A Codon: CGT/CTT Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303142C>A Locations: - p.Arg20Leu (Ensembl:ENST00000635192) - c.59G>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs139357839 | 20 | R>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38893470C>A Codon: CGT/CTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893470C>A Locations: - p.Arg20Leu (Ensembl:ENST00000447739) - c.59G>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs774515802 | 20 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.38893471G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893471G>T Locations: - p.Arg20Ser (Ensembl:ENST00000447739) - c.58C>A (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs1241556108 | 21 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.156) - SIFT: deleterious (0.01) Somatic: No Accession: NW_014040929.1:g.303139A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303139A>C Locations: - p.Leu21Arg (Ensembl:ENST00000635192) - c.62T>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1241556108 | 21 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.38893468G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893468G>C Locations: - p.Leu21Val (Ensembl:ENST00000447739) - c.61C>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1973610873 | 23 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Accession: NW_014040929.1:g.303132G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303132G>C Locations: - p.Asp23Glu (Ensembl:ENST00000635192) - c.69C>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1973610873 | 23 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.38893461T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893461T>C Locations: - p.Asp23Gly (Ensembl:ENST00000447739) - c.68A>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs749731782 | 23 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.38893462C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893462C>T Locations: - p.Asp23Asn (Ensembl:ENST00000447739) - c.67G>A (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs201677615 | 24 | E>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NW_014040929.1:g.303131C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NW_014040929.1:g.303131C>A Locations: - p.Glu24Ter (Ensembl:ENST00000635192) - c.70G>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs200888217 | 24 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.38893457C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893457C>G Locations: - p.Glu24Asp (Ensembl:ENST00000447739) - c.72G>C (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1973610463 | 24 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NW_014040929.1:g.303129C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303129C>A Locations: - p.Glu24Asp (Ensembl:ENST00000635192) - c.72G>T (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs920534440 | 24 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.38893459C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893459C>T Locations: - p.Glu24Lys (Ensembl:ENST00000447739) - c.70G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1973610463 | 24 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38893458T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893458T>A Locations: - p.Glu24Val (Ensembl:ENST00000447739) - c.71A>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1403129868 | 25 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.571) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.38893455A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893455A>G Locations: - p.Leu25Pro (Ensembl:ENST00000447739) - c.74T>C (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1973610123 | 26 | T>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.188) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.38893452G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893452G>T Locations: - p.Thr26Asn (Ensembl:ENST00000447739) - c.77C>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1034418160 | 27 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.38893448C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893448C>G Locations: - p.Leu27Phe (Ensembl:ENST00000447739) - c.81G>C (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1600126259 | 28 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.38893447C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893447C>T Locations: - p.Glu28Lys (Ensembl:ENST00000447739) - c.82G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1034418160 | 28 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.09) Somatic: No Accession: NW_014040929.1:g.303119C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303119C>G Locations: - p.Glu28Gln (Ensembl:ENST00000635192) - c.82G>C (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs770557472 | 29 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.214) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38893443C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893443C>A Locations: - p.Gly29Val (Ensembl:ENST00000447739) - c.86G>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1600126238 | 30 | V>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303112A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303112A>T Locations: - p.Val30Glu (Ensembl:ENST00000635192) - c.89T>A (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs746574931 | 30 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.01) Somatic: No Accession: NW_014040929.1:g.303113C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303113C>G Locations: - p.Val30Leu (Ensembl:ENST00000635192) - c.88G>C (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs1600126238 | 30 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.275) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.38893441C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893441C>T Locations: - p.Val30Met (Ensembl:ENST00000447739) - c.88G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1973609117 | 31 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.445) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38893437G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893437G>T Locations: - p.Ala31Asp (Ensembl:ENST00000447739) - c.92C>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1973609255 | 31 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.445) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303109G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303109G>T Locations: - p.Ala31Asp (Ensembl:ENST00000635192) - c.92C>A (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1973609255 | 31 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.38893438C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893438C>T Locations: - p.Ala31Thr (Ensembl:ENST00000447739) - c.91G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1001733536 | 31 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.1) Somatic: No Accession: NW_014040929.1:g.303110C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303110C>T Locations: - p.Ala31Thr (Ensembl:ENST00000635192) - c.91G>A (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
COSV99979184 rs201911244 | 32 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003982 (gnomAD) Accession: NC_000019.10:g.38893434C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893434C>A Locations: - p.R32L (NCI-TCGA:ENST00000447739) - p.Arg32Leu (Ensembl:ENST00000447739) - c.95G>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs199676461 | 32 | R>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303106C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303106C>A Locations: - p.Arg32Leu (Ensembl:ENST00000635192) - c.95G>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs199676461 | 32 | R>Q | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.1) Somatic: No Accession: NW_014040929.1:g.303106C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303106C>T Locations: - p.Arg32Gln (Ensembl:ENST00000635192) - c.95G>A (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs201911244 | 32 | R>Q | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.38893434C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893434C>T Locations: - p.Arg32Gln (Ensembl:ENST00000447739) - c.95G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs199676461 | 32 | R>W | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.526) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38893435G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893435G>A Locations: - p.Arg32Trp (Ensembl:ENST00000447739) - c.94C>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs764664021 | 33 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303103T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303103T>C Locations: - p.Tyr33Cys (Ensembl:ENST00000635192) - c.98A>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs764664021 | 33 | Y>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38893432A>C Codon: TAC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893432A>C Locations: - p.Tyr33Asp (Ensembl:ENST00000447739) - c.97T>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1037998278 | 34 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.38893427C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893427C>A Locations: - p.Met34Ile (Ensembl:ENST00000447739) - c.102G>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs752424589 | 34 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.38893429T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893429T>G Locations: - p.Met34Leu (Ensembl:ENST00000447739) - c.100A>C (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs752424589 | 34 | M>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303100A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303100A>C Locations: - p.Met34Arg (Ensembl:ENST00000635192) - c.101T>G (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs752424589 | 34 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303100A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303100A>G Locations: - p.Met34Thr (Ensembl:ENST00000635192) - c.101T>C (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs752424589 | 34 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.38893429T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893429T>C Locations: - p.Met34Val (Ensembl:ENST00000447739) - c.100A>G (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs1037998278 | 35 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NW_014040929.1:g.303098G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NW_014040929.1:g.303098G>A Locations: - p.Gln35Ter (Ensembl:ENST00000635192) - c.103C>T (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs376265776 | 36 | S>N | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.38893422C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893422C>T Locations: - p.Ser36Asn (Ensembl:ENST00000447739) - c.107G>A (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs376265776 | 36 | S>R | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303093G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303093G>T Locations: - p.Ser36Arg (Ensembl:ENST00000635192) - c.108C>A (Ensembl:ENST00000635192) Source type: large scale study | |||||||
COSV50877222 rs200563255 | 36 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000007969 (gnomAD) Accession: NC_000019.10:g.38893421G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893421G>T Locations: - p.S36R (NCI-TCGA:ENST00000447739) - p.Ser36Arg (Ensembl:ENST00000447739) - c.108C>A (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs200563255 | 37 | E>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NW_014040929.1:g.303092C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NW_014040929.1:g.303092C>A Locations: - p.Glu37Ter (Ensembl:ENST00000635192) - c.109G>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs200563255 | 37 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NW_014040929.1:g.303092C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303092C>T Locations: - p.Glu37Lys (Ensembl:ENST00000635192) - c.109G>A (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs199594239 | 37 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.38893420C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893420C>T Locations: - p.Glu37Lys (Ensembl:ENST00000447739) - c.109G>A (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs201405136 | 38 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00003988 (gnomAD) Accession: NC_000019.10:g.38893417G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893417G>A Locations: - p.R38C (NCI-TCGA:ENST00000447739) - p.Arg38Cys (Ensembl:ENST00000447739) - c.112C>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
COSV50875490 rs200520235 | 38 | R>H | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.38893416C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893416C>T Locations: - p.Arg38His (Ensembl:ENST00000447739) - c.113G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs201405136 | 38 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.303088C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303088C>A Locations: - p.Arg38Leu (Ensembl:ENST00000635192) - c.113G>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs200520235 | 38 | R>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.38893416C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38893416C>G Locations: - p.Arg38Pro (Ensembl:ENST00000447739) - c.113G>C (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs1351485075 | 39 | C>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38890144C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890144C>A Locations: - p.Cys39Phe (Ensembl:ENST00000447739) - c.116G>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs558022178 | 39 | C>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: deleterious (0.01) Somatic: No Accession: NW_014040929.1:g.303086A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.303086A>C Locations: - p.Cys39Gly (Ensembl:ENST00000635192) - c.115T>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1373409348 | 39 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299816C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299816C>T Locations: - p.Cys39Tyr (Ensembl:ENST00000635192) - c.116G>A (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
COSV50875225 rs146760070 | 40 | R>C | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.38890142G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890142G>A Locations: - p.Arg40Cys (Ensembl:ENST00000447739) - c.118C>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs146760070 | 40 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38890142G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890142G>C Locations: - p.Arg40Gly (Ensembl:ENST00000447739) - c.118C>G (Ensembl:ENST00000447739) Source type: large scale study | |||||||
COSV106330329 rs773864674 | 40 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.38890141C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890141C>T Locations: - p.Arg40His (Ensembl:ENST00000447739) - c.119G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs773864674 | 40 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.267) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38890141C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890141C>A Locations: - p.Arg40Leu (Ensembl:ENST00000447739) - c.119G>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs146760070 | 40 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.267) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299813C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299813C>A Locations: - p.Arg40Leu (Ensembl:ENST00000635192) - c.119G>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs773864674 | 40 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.38890141C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890141C>G Locations: - p.Arg40Pro (Ensembl:ENST00000447739) - c.119G>C (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs1360499204 | 41 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.38890137T>A Codon: AGA/AGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890137T>A Locations: - p.Arg41Ser (Ensembl:ENST00000447739) - c.123A>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1973485794 | 42 | V>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299807A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299807A>T Locations: - p.Val42Asp (Ensembl:ENST00000635192) - c.125T>A (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1360499204 | 42 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.323) - SIFT: deleterious (0.01) Somatic: No Accession: NW_014040929.1:g.299808C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299808C>A Locations: - p.Val42Phe (Ensembl:ENST00000635192) - c.124G>T (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1973485794 | 42 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.38890136C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890136C>T Locations: - p.Val42Ile (Ensembl:ENST00000447739) - c.124G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1600120923 | 43 | I>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.38890133T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890133T>A Locations: - p.Ile43Phe (Ensembl:ENST00000447739) - c.127A>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1455261976 | 43 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.927) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38890131G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890131G>C Locations: - p.Ile43Met (Ensembl:ENST00000447739) - c.129C>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1600120923 | 43 | I>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: tolerated (0.07) Somatic: No Accession: NW_014040929.1:g.299804A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299804A>C Locations: - p.Ile43Ser (Ensembl:ENST00000635192) - c.128T>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1973485664 | 43 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.797) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38890132A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890132A>G Locations: - p.Ile43Thr (Ensembl:ENST00000447739) - c.128T>C (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1600120923 | 43 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000019.10:g.38890133T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890133T>C Locations: - p.Ile43Val (Ensembl:ENST00000447739) - c.127A>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1455261976 | 44 | C>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.333) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299802A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299802A>C Locations: - p.Cys44Gly (Ensembl:ENST00000635192) - c.130T>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1973485436 | 44 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38890129C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890129C>G Locations: - p.Cys44Ser (Ensembl:ENST00000447739) - c.131G>C (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1973485028 | 46 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000019.10:g.38890123A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890123A>G Locations: - p.Val46Ala (Ensembl:ENST00000447739) - c.137T>C (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs373609953 | 46 | V>L | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.38890124C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890124C>A Locations: - p.Val46Leu (Ensembl:ENST00000447739) - c.136G>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs768299390 | 46 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.695) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299796C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299796C>T Locations: - p.Val46Met (Ensembl:ENST00000635192) - c.136G>A (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs748900942 | 49 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NW_014040929.1:g.299787C>G Codon: GGA/CGA Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299787C>G Locations: - p.Gly49Arg (Ensembl:ENST00000635192) - c.145G>C (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs143528673 | 50 | I>F | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.38890112T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890112T>A Locations: - p.Ile50Phe (Ensembl:ENST00000447739) - c.148A>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs201730617 | 50 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0.05) Somatic: No Accession: NW_014040929.1:g.299784T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299784T>G Locations: - p.Ile50Leu (Ensembl:ENST00000635192) - c.148A>C (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs143528673 | 50 | I>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.38890112T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890112T>G Locations: - p.Ile50Leu (Ensembl:ENST00000447739) - c.148A>C (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs143528673 | 50 | I>T | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299783A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299783A>G Locations: - p.Ile50Thr (Ensembl:ENST00000635192) - c.149T>C (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs1453825601 | 51 | S>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.38890109A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890109A>C Locations: - p.Ser51Ala (Ensembl:ENST00000447739) - c.151T>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1453825601 | 51 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299780G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299780G>C Locations: - p.Ser51Cys (Ensembl:ENST00000635192) - c.152C>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
COSV104374931 rs934433059 | 51 | S>F | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.38890108G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890108G>A Locations: - p.Ser51Phe (Ensembl:ENST00000447739) - c.152C>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1409372343 | 52 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.04) Somatic: No Accession: NW_014040929.1:g.299778T>A Codon: ACA/TCA Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299778T>A Locations: - p.Thr52Ser (Ensembl:ENST00000635192) - c.154A>T (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1176650888 | 53 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.317) - SIFT: tolerated (0.25) Somatic: No Accession: NW_014040929.1:g.299775A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299775A>C Locations: - p.Ser53Ala (Ensembl:ENST00000635192) - c.157T>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs750920243 | 53 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889961G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889961G>A Locations: - p.Ser53Phe (Ensembl:ENST00000447739) - c.158C>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs201249832 | 53 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.311) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38890103A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38890103A>G Locations: - p.Ser53Pro (Ensembl:ENST00000447739) - c.157T>C (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs200814071 | 54 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299630G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299630G>T Locations: - p.Ala54Glu (Ensembl:ENST00000635192) - c.161C>A (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs200814071 | 54 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889959C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889959C>G Locations: - p.Ala54Pro (Ensembl:ENST00000447739) - c.160G>C (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs200814071 | 54 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.38889959C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889959C>A Locations: - p.Ala54Ser (Ensembl:ENST00000447739) - c.160G>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs201717531 | 54 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious (0.01) Somatic: No Accession: NW_014040929.1:g.299631C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299631C>A Locations: - p.Ala54Ser (Ensembl:ENST00000635192) - c.160G>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs200814071 | 54 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889959C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889959C>T Locations: - p.Ala54Thr (Ensembl:ENST00000447739) - c.160G>A (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs200814071 | 54 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299630G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299630G>A Locations: - p.Ala54Val (Ensembl:ENST00000635192) - c.161C>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs1172874320 | 56 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299625T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299625T>A Locations: - p.Ile56Phe (Ensembl:ENST00000635192) - c.166A>T (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1973475312 | 56 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889951G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889951G>C Locations: - p.Ile56Met (Ensembl:ENST00000447739) - c.168C>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1973475312 | 57 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299622G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299622G>C Locations: - p.Pro57Ala (Ensembl:ENST00000635192) - c.169C>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1428868182 | 58 | D>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299618T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299618T>G Locations: - p.Asp58Ala (Ensembl:ENST00000635192) - c.173A>C (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1394082677 | 58 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889945G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889945G>C Locations: - p.Asp58Glu (Ensembl:ENST00000447739) - c.174C>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1428868182 | 58 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889947C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889947C>G Locations: - p.Asp58His (Ensembl:ENST00000447739) - c.172G>C (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1428868182 | 58 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000019.10:g.38889947C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889947C>T Locations: - p.D58N (NCI-TCGA:ENST00000447739) - p.Asp58Asn (Ensembl:ENST00000447739) - c.172G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1006649779 | 58 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299619C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299619C>A Locations: - p.Asp58Tyr (Ensembl:ENST00000635192) - c.172G>T (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1184695675 | 59 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NW_014040929.1:g.299615A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299615A>C Locations: - p.Phe59Cys (Ensembl:ENST00000635192) - c.176T>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1469719084 | 59 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.38889942A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889942A>C Locations: - p.Phe59Leu (Ensembl:ENST00000447739) - c.177T>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1184695675 | 59 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889944A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889944A>C Locations: - p.Phe59Val (Ensembl:ENST00000447739) - c.175T>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1394082677 | 59 | F>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299616A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299616A>C Locations: - p.Phe59Val (Ensembl:ENST00000635192) - c.175T>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs769376141 | 60 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000019.10:g.38889941G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889941G>A Locations: - p.R60C (NCI-TCGA:ENST00000447739) - p.Arg60Cys (Ensembl:ENST00000447739) - c.178C>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1469719084 | 60 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299613G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299613G>C Locations: - p.Arg60Gly (Ensembl:ENST00000635192) - c.178C>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs769376141 | 60 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889941G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889941G>C Locations: - p.Arg60Gly (Ensembl:ENST00000447739) - c.178C>G (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs769376141 | 60 | R>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299612C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299612C>T Locations: - p.Arg60His (Ensembl:ENST00000635192) - c.179G>A (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs374491281 | 60 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889940C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889940C>T Locations: - p.Arg60His (Ensembl:ENST00000447739) - c.179G>A (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs769376141 | 60 | R>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299612C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299612C>A Locations: - p.Arg60Leu (Ensembl:ENST00000635192) - c.179G>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs769376141 | 60 | R>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889941G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889941G>T Locations: - p.Arg60Ser (Ensembl:ENST00000447739) - c.178C>A (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs1227795348 | 61 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889937G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889937G>C Locations: - p.Ser61Cys (Ensembl:ENST00000447739) - c.182C>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1259551409 | 61 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.817) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889938A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889938A>G Locations: - p.Ser61Pro (Ensembl:ENST00000447739) - c.181T>C (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs776368661 | 62 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299606G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299606G>A Locations: - p.Pro62Leu (Ensembl:ENST00000635192) - c.185C>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
COSV50876393 rs1295226901 | 62 | P>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.38889934G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889934G>A Locations: - p.Pro62Leu (Ensembl:ENST00000447739) - c.185C>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs776368661 | 62 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889935G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889935G>A Locations: - p.Pro62Ser (Ensembl:ENST00000447739) - c.184C>T (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs770654234 | 63 | S>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.68) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889931G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889931G>T Locations: - p.Ser63Tyr (Ensembl:ENST00000447739) - c.188C>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs76265208 | 65 | G>A | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299597C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299597C>G Locations: - p.Gly65Ala (Ensembl:ENST00000635192) - c.194G>C (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs199693194 | 65 | G>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299598C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299598C>A Locations: - p.Gly65Cys (Ensembl:ENST00000635192) - c.193G>T (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs1482531642 | 65 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889925C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889925C>T Locations: - p.Gly65Asp (Ensembl:ENST00000447739) - c.194G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs76265208 | 65 | G>D | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299597C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299597C>T Locations: - p.Gly65Asp (Ensembl:ENST00000635192) - c.194G>A (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs76265208 | 65 | G>R | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889926C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889926C>G Locations: - p.Gly65Arg (Ensembl:ENST00000447739) - c.193G>C (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
COSV50875409 rs76265208 | 65 | G>S | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.38889926C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889926C>T Locations: - p.Gly65Ser (Ensembl:ENST00000447739) - c.193G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1440239604 | 66 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889923G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889923G>A Locations: - p.Leu66Phe (Ensembl:ENST00000447739) - c.196C>T (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs748298105 | 67 | Y>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NW_014040929.1:g.299590A>C Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NW_014040929.1:g.299590A>C Locations: - p.Tyr67Ter (Ensembl:ENST00000635192) - c.201T>G (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs748298105 | 67 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889919T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889919T>C Locations: - p.Tyr67Cys (Ensembl:ENST00000447739) - c.200A>G (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs1181779959 | 67 | Y>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299592A>C Codon: TAT/GAT Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299592A>C Locations: - p.Tyr67Asp (Ensembl:ENST00000635192) - c.199T>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1568402423 | 68 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.24) Somatic: No Accession: NW_014040929.1:g.299589C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299589C>G Locations: - p.Asp68His (Ensembl:ENST00000635192) - c.202G>C (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1300115367 | 69 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.38889914T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889914T>C Locations: - p.Asn69Asp (Ensembl:ENST00000447739) - c.205A>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1462742971 | 69 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.531) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299584G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299584G>C Locations: - p.Asn69Lys (Ensembl:ENST00000635192) - c.207C>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1462742971 | 69 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.815) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.38889913T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889913T>C Locations: - p.Asn69Ser (Ensembl:ENST00000447739) - c.206A>G (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1300115367 | 69 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.815) - SIFT: deleterious (0.02) Somatic: No Accession: NW_014040929.1:g.299585T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299585T>C Locations: - p.Asn69Ser (Ensembl:ENST00000635192) - c.206A>G (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs1973472222 | 69 | N>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299586T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299586T>A Locations: - p.Asn69Tyr (Ensembl:ENST00000635192) - c.205A>T (Ensembl:ENST00000635192) Source type: large scale study Cross-references: | |||||||
rs779149028 | 70 | L>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.38889911G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889911G>T Locations: - p.Leu70Ile (Ensembl:ENST00000447739) - c.208C>A (Ensembl:ENST00000447739) Source type: large scale study | |||||||
rs779149028 | 70 | L>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299582A>T Codon: CTA/CAA Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299582A>T Locations: - p.Leu70Gln (Ensembl:ENST00000635192) - c.209T>A (Ensembl:ENST00000635192) Source type: large scale study | |||||||
rs551071804 | 71 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.38889908C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.38889908C>T Locations: - p.Glu71Lys (Ensembl:ENST00000447739) - c.211G>A (Ensembl:ENST00000447739) Source type: large scale study Cross-references: | |||||||
rs1395587587 | 73 | Y>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NW_014040929.1:g.299574A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NW_014040929.1:g.299574A>T Locations: - p.Tyr73Asn (Ensembl:ENST00000635192) - c.217T>A (Ensembl:ENST00000635192) Source type: large scale study Cross-references: |