Q8NE63 · HIPK4_HUMAN
- ProteinHomeodomain-interacting protein kinase 4
- GeneHIPK4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids616 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1599646939 | 2 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40389899A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389899A>G Locations: - p.Ser2Pro (Ensembl:ENST00000291823) - c.4T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599646935 | 3 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.40389896T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389896T>C Locations: - p.Thr3Ala (Ensembl:ENST00000291823) - c.7A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599646935 | 3 | T>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389896T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389896T>G Locations: - p.Thr3Pro (Ensembl:ENST00000291823) - c.7A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599646935 | 3 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.40389896T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389896T>A Locations: - p.Thr3Ser (Ensembl:ENST00000291823) - c.7A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs760319453 | 5 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40389890G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389890G>A Locations: - p.Gln5Ter (Ensembl:ENST00000291823) - c.13C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs370355041 | 5 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000019.10:g.40389888C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389888C>G Locations: - p.Gln5His (Ensembl:ENST00000291823) - c.15G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1445338664 | 5 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.229) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.40389889T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389889T>G Locations: - p.Gln5Pro (Ensembl:ENST00000291823) - c.14A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1445338664 | 5 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000019.10:g.40389889T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389889T>C Locations: - p.Gln5Arg (Ensembl:ENST00000291823) - c.14A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs760883836 | 6 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40389886G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389886G>A Locations: - p.Ser6Leu (Ensembl:ENST00000291823) - c.17C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079380815 | 7 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.40389883T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389883T>A Locations: - p.Glu7Val (Ensembl:ENST00000291823) - c.20A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs773646336 | 8 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.414) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389880G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389880G>A Locations: - p.Thr8Ile (Ensembl:ENST00000291823) - c.23C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079380717 | 9 | D>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40389877T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389877T>G Locations: - p.Asp9Ala (Ensembl:ENST00000291823) - c.26A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs769993499 | 9 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.82) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389878C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389878C>T Locations: - p.Asp9Asn (Ensembl:ENST00000291823) - c.25G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs374592673 | 10 | C>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.40389874C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389874C>G Locations: - p.Cys10Ser (Ensembl:ENST00000291823) - c.29G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs558660995 | 10 | C>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious (0.05) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40389873G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389873G>C Locations: - p.Cys10Trp (Ensembl:ENST00000291823) - c.30C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99397133 rs1364058769 | 12 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.01) - PolyPhen: benign (0.003) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.40389869C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389869C>T Locations: - p.D12N (NCI-TCGA:ENST00000291823) - p.Asp12Asn (Ensembl:ENST00000291823) - c.34G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079380576 | 13 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40389866T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389866T>A Locations: - p.Ile13Phe (Ensembl:ENST00000291823) - c.37A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079380576 | 13 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000019.10:g.40389866T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389866T>C Locations: - p.Ile13Val (Ensembl:ENST00000291823) - c.37A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs377107606 | 15 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.08) - PolyPhen: probably damaging (0.928) - SIFT: tolerated (0.12) Somatic: No Population frequencies: - MAF: 0.000016 (gnomAD) Accession: NC_000019.10:g.40389860C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389860C>T Locations: - p.E15K (NCI-TCGA:ENST00000291823) - p.Glu15Lys (Ensembl:ENST00000291823) - c.43G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs570114842 | 17 | L>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.53) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40389854A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389854A>C Locations: - p.Leu17Val (Ensembl:ENST00000291823) - c.49T>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
TCGA novel | 18 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389851C>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389851C>T Locations: - c.52G>A (NCI-TCGA:ENST00000291823) - p.G18S (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99397152 | 20 | G>E | 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_000019.10:g.40389844C>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389844C>T Locations: - c.59G>A (NCI-TCGA:ENST00000291823) - p.G20E (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 22 | F>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000019.10:g.40389837del Consequence type: frameshift Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389837del Locations: - c.66del (NCI-TCGA:ENST00000291823) - p.F22Lfs*4 (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2079380422 | 26 | A>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.519) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389826G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389826G>T Locations: - p.Ala26Asp (Ensembl:ENST00000291823) - c.77C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079380391 | 28 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.40389820C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389820C>A Locations: - p.Gly28Val (Ensembl:ENST00000291823) - c.83G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs760368671 | 30 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.629) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.40389814C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389814C>T Locations: - p.Arg30Gln (Ensembl:ENST00000291823) - c.89G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV99396657 rs763886506 | 30 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000007957 (gnomAD) Accession: NC_000019.10:g.40389815G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389815G>A Locations: - p.R30W (NCI-TCGA:ENST00000291823) - p.Arg30Trp (Ensembl:ENST00000291823) - c.88C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs199527408 | 31 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389811C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389811C>T Locations: - p.Arg31Gln (Ensembl:ENST00000291823) - c.92G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52520863 rs775166307 | 31 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00002387 (gnomAD) Accession: NC_000019.10:g.40389812G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389812G>A Locations: - p.R31W (NCI-TCGA:ENST00000291823) - p.Arg31Trp (Ensembl:ENST00000291823) - c.91C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599646852 | 32 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40389809T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389809T>C Locations: - p.Ser32Gly (Ensembl:ENST00000291823) - c.94A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599646848 | 32 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40389807G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389807G>C Locations: - p.Ser32Arg (Ensembl:ENST00000291823) - c.96C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs763526891 | 33 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389805G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389805G>A Locations: - p.Thr33Met (Ensembl:ENST00000291823) - c.98C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1162398046 | 34 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389803C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389803C>T Locations: - p.Gly34Ser (Ensembl:ENST00000291823) - c.100G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs748573312 | 35 | E>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389800C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389800C>T Locations: - p.Glu35Lys (Ensembl:ENST00000291823) - c.103G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs748573312 | 35 | E>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.40389800C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389800C>G Locations: - p.Glu35Gln (Ensembl:ENST00000291823) - c.103G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs776961937 | 36 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.681) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389795C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389795C>T Locations: - p.Met36Ile (Ensembl:ENST00000291823) - c.108G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599646827 | 37 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389793A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389793A>C Locations: - p.Val37Gly (Ensembl:ENST00000291823) - c.110T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599646824 | 38 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389790G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389790G>C Locations: - p.Ala38Gly (Ensembl:ENST00000291823) - c.113C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1477498433 | 39 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.40389788T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389788T>G Locations: - p.Ile39Leu (Ensembl:ENST00000291823) - c.115A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079380054 | 39 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389786G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389786G>C Locations: - p.Ile39Met (Ensembl:ENST00000291823) - c.117C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1030104437 | 40 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40389784T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389784T>C Locations: - p.Lys40Arg (Ensembl:ENST00000291823) - c.119A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs768907639 | 41 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389782T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389782T>G Locations: - p.Ile41Leu (Ensembl:ENST00000291823) - c.121A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs747192970 | 41 | I>M | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.40389780G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389780G>C Locations: - p.Ile41Met (Ensembl:ENST00000291823) - c.123C>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079379969 | 43 | K>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389775T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389775T>A Locations: - p.Lys43Met (Ensembl:ENST00000291823) - c.128A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079379943 | 45 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40389770C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389770C>T Locations: - p.Asp45Asn (Ensembl:ENST00000291823) - c.133G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs758353813 | 46 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000019.10:g.40389767C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389767C>T Locations: - p.Ala46Thr (Ensembl:ENST00000291823) - c.136G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079379864 | 47 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.40389763T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389763T>C Locations: - p.Tyr47Cys (Ensembl:ENST00000291823) - c.140A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs745953817 | 48 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389761G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389761G>A Locations: - p.Arg48Cys (Ensembl:ENST00000291823) - c.142C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52519807 rs778771912 | 48 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.742) - SIFT: tolerated (0.3) - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.13) Somatic: No Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000019.10:g.40389760C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389760C>T Locations: - p.R48H (NCI-TCGA:ENST00000291823) - p.Arg48His (Ensembl:ENST00000291823) - c.143G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs190827341 | 50 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: deleterious (0.01) - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000019.10:g.40389755G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389755G>A Locations: - p.R50C (NCI-TCGA:ENST00000291823) - p.Arg50Cys (Ensembl:ENST00000291823) - c.148C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs146668696 | 50 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.05) - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000007953 (gnomAD) Accession: NC_000019.10:g.40389754C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389754C>T Locations: - p.R50H (NCI-TCGA:ENST00000291823) - p.Arg50His (Ensembl:ENST00000291823) - c.149G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs146668696 | 50 | R>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40389754C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389754C>A Locations: - p.Arg50Leu (Ensembl:ENST00000291823) - c.149G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1284625104 | 51 | I>N | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389751A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389751A>T Locations: - p.Ile51Asn (Ensembl:ENST00000291823) - c.152T>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1169524144 | 51 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000019.10:g.40389752T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389752T>C Locations: - p.Ile51Val (Ensembl:ENST00000291823) - c.151A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079379691 | 52 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40389748A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389748A>G Locations: - p.Ile52Thr (Ensembl:ENST00000291823) - c.155T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs755849000 | 52 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.556) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000019.10:g.40389749T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389749T>C Locations: - p.Ile52Val (Ensembl:ENST00000291823) - c.154A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs17853310 COSV52519019 | 53 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC gnomAD NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.99) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000019.10:g.40389744C>G, NC_000019.10:g.40389744C>A Codon: AAG/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389744C>G, NC_000019.10:g.40389744C>A Locations: - p.Lys53Asn (Ensembl:ENST00000291823) - c.159G>C (Ensembl:ENST00000291823) - c.159G>T (NCI-TCGA:ENST00000291823) - p.K53N (NCI-TCGA:ENST00000291823) Source type: large scale study | |||||||
rs1227295944 | 53 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.40389745T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389745T>C Locations: - p.Lys53Arg (Ensembl:ENST00000291823) - c.158A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52518848 rs1568698585 | 55 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389740C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389740C>T Locations: - p.E55K (NCI-TCGA:ENST00000291823) - p.Glu55Lys (Ensembl:ENST00000291823) - c.163G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 59 | L>M | 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_000019.10:g.40389728G>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389728G>T Locations: - c.175C>A (NCI-TCGA:ENST00000291823) - p.L59M (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs765716221 | 60 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.83) Somatic: No Accession: NC_000019.10:g.40389723G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389723G>T Locations: - p.His60Gln (Ensembl:ENST00000291823) - c.180C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079379513 | 60 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40389724T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389724T>C Locations: - p.His60Arg (Ensembl:ENST00000291823) - c.179A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs751069591 | 60 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389725G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389725G>A Locations: - p.His60Tyr (Ensembl:ENST00000291823) - c.178C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1465278181 | 61 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.642) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389721C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389721C>T Locations: - p.Cys61Tyr (Ensembl:ENST00000291823) - c.182G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1421809889 | 62 | M>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40389719T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389719T>G Locations: - p.Met62Leu (Ensembl:ENST00000291823) - c.184A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1266566496 | 62 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389718A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389718A>G Locations: - p.Met62Thr (Ensembl:ENST00000291823) - c.185T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52519145 rs1328912809 | 63 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40389716G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389716G>A Locations: - p.R63* (NCI-TCGA:ENST00000291823) - p.Arg63Ter (Ensembl:ENST00000291823) - c.187C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1328912809 | 63 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000019.10:g.40389716G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389716G>C Locations: - p.Arg63Gly (Ensembl:ENST00000291823) - c.187C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52522258 | 63 | R>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.715) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000019.10:g.40389715C>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389715C>G Locations: - c.188G>C (NCI-TCGA:ENST00000291823) - p.R63P (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs762281156 | 63 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.776) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000019.10:g.40389715C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389715C>T Locations: - p.Arg63Gln (Ensembl:ENST00000291823) - c.188G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079379363 | 64 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.385) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000019.10:g.40389712C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389712C>T Locations: - p.Gly64Asp (Ensembl:ENST00000291823) - c.191G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1568698555 | 64 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000019.10:g.40389713C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389713C>T Locations: - p.Gly64Ser (Ensembl:ENST00000291823) - c.190G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs777010991 | 65 | L>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40389710G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389710G>C Locations: - p.Leu65Val (Ensembl:ENST00000291823) - c.193C>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52525671 | 66 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.40389706T>C Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389706T>C Locations: - c.197A>G (NCI-TCGA:ENST00000291823) - p.D66G (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1181395686 | 67 | P>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40389703G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389703G>T Locations: - p.Pro67His (Ensembl:ENST00000291823) - c.200C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1189984591 | 68 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000019.10:g.40389699T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389699T>A Locations: - p.Glu68Asp (Ensembl:ENST00000291823) - c.204A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1041408921 | 68 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.216) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000019.10:g.40389701C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389701C>T Locations: - p.Glu68Lys (Ensembl:ENST00000291823) - c.202G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52524045 | 69 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.153) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000019.10:g.40389698C>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389698C>G Locations: - c.205G>C (NCI-TCGA:ENST00000291823) - p.E69Q (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1185228571 | 69 | E>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.629) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389697T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389697T>A Locations: - p.Glu69Val (Ensembl:ENST00000291823) - c.206A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2145721254 | 70 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.40389694G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389694G>T Locations: - p.Ala70Asp (Ensembl:ENST00000291823) - c.209C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs760901221 | 70 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.40389695C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389695C>T Locations: - p.Ala70Thr (Ensembl:ENST00000291823) - c.208G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
TCGA novel | 71 | H>T | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000019.10:g.40389692del Consequence type: frameshift Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389692del Locations: - c.211del (NCI-TCGA:ENST00000291823) - p.H71Tfs*86 (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99396228 rs775509708 | 72 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000019.10:g.40389689C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389689C>T Locations: - p.V72I (NCI-TCGA:ENST00000291823) - p.Val72Ile (Ensembl:ENST00000291823) - c.214G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079379175 | 73 | I>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389686T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389686T>G Locations: - p.Ile73Leu (Ensembl:ENST00000291823) - c.217A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1160820347 | 73 | I>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40389685A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389685A>C Locations: - p.Ile73Ser (Ensembl:ENST00000291823) - c.218T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1160820347 | 73 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389685A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389685A>G Locations: - p.Ile73Thr (Ensembl:ENST00000291823) - c.218T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs369248074 | 74 | R>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389683G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389683G>A Locations: - p.Arg74Cys (Ensembl:ENST00000291823) - c.220C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1057246320 | 74 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: tolerated (0.06) - PolyPhen: possibly damaging (0.853) - SIFT: tolerated (0.27) Somatic: No Population frequencies: - MAF: 0.000007953 (gnomAD) Accession: NC_000019.10:g.40389682C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389682C>T Locations: - p.R74H (NCI-TCGA:ENST00000291823) - p.Arg74His (Ensembl:ENST00000291823) - c.221G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1057246320 | 74 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40389682C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389682C>A Locations: - p.Arg74Leu (Ensembl:ENST00000291823) - c.221G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 75 | F>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.589) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40389679A>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389679A>T Locations: - c.224T>A (NCI-TCGA:ENST00000291823) - p.F75Y (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs779019561 | 76 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.861) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389676A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389676A>G Locations: - p.Leu76Pro (Ensembl:ENST00000291823) - c.227T>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV99396670 | 77 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.40389674C>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389674C>T Locations: - c.229G>A (NCI-TCGA:ENST00000291823) - p.E77K (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1356834381 | 77 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389674C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389674C>G Locations: - p.Glu77Gln (Ensembl:ENST00000291823) - c.229G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1350242537 | 78 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000019.10:g.40389669G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389669G>C Locations: - p.Phe78Leu (Ensembl:ENST00000291823) - c.234C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs914216707 | 78 | F>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.873) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000019.10:g.40389671A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389671A>C Locations: - p.Phe78Val (Ensembl:ENST00000291823) - c.232T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1225389809 | 80 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.40389664T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389664T>C Locations: - p.His80Arg (Ensembl:ENST00000291823) - c.239A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs777721110 | 82 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000019.10:g.40389659C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389659C>G Locations: - p.Ala82Pro (Ensembl:ENST00000291823) - c.244G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52520339 rs777721110 | 82 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: tolerated (0.19) - PolyPhen: benign (0.127) - SIFT: tolerated (0.55) Somatic: No Population frequencies: - MAF: 0.00001988 (gnomAD) Accession: NC_000019.10:g.40389659C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389659C>T Locations: - p.A82T (NCI-TCGA:ENST00000291823) - p.Ala82Thr (Ensembl:ENST00000291823) - c.244G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs377377843 | 82 | A>V | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.235) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000019.10:g.40389658G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389658G>A Locations: - p.Ala82Val (Ensembl:ENST00000291823) - c.245C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1466554928 | 83 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000019.10:g.40389656G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389656G>A Locations: - p.Leu83Phe (Ensembl:ENST00000291823) - c.247C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs926825676 | 84 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000019.10:g.40389652T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389652T>C Locations: - p.Lys84Arg (Ensembl:ENST00000291823) - c.251A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs780768411 | 87 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389644G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389644G>C Locations: - p.Leu87Val (Ensembl:ENST00000291823) - c.259C>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079378708 | 90 | E>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40389635C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389635C>A Locations: - p.Glu90Ter (Ensembl:ENST00000291823) - c.268G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs374640365 | 91 | L>M | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40389632G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389632G>T Locations: - p.Leu91Met (Ensembl:ENST00000291823) - c.271C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs754639958 | 92 | L>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.40389629G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389629G>T Locations: - p.Leu92Met (Ensembl:ENST00000291823) - c.274C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 95 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389620T>C Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389620T>C Locations: - c.283A>G (NCI-TCGA:ENST00000291823) - p.N95D (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1251058698 | 96 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389617G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389617G>A Locations: - p.Leu96Phe (Ensembl:ENST00000291823) - c.286C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs200286326 | 98 | E>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40389610T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389610T>G Locations: - p.Glu98Ala (Ensembl:ENST00000291823) - c.293A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52525589 | 98 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.40389611C>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389611C>T Locations: - c.292G>A (NCI-TCGA:ENST00000291823) - p.E98K (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1244539445 | 98 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.40389611C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389611C>G Locations: - p.Glu98Gln (Ensembl:ENST00000291823) - c.292G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs754287958 | 102 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.40389597C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389597C>G Locations: - p.Glu102Asp (Ensembl:ENST00000291823) - c.306G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs762330541 | 102 | E>G | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389598T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389598T>C Locations: - p.Glu102Gly (Ensembl:ENST00000291823) - c.305A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1253729226 | 104 | N>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389592T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389592T>G Locations: - p.Asn104Thr (Ensembl:ENST00000291823) - c.311A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99397053 | 105 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.40389590A>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389590A>G Locations: - c.313T>C (NCI-TCGA:ENST00000291823) - p.F105L (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599646646 | 105 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40389589A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389589A>G Locations: - p.Phe105Ser (Ensembl:ENST00000291823) - c.314T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs34434715 | 106 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.40389587C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389587C>G Locations: - p.Ala106Pro (Ensembl:ENST00000291823) - c.316G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
VAR_040554 rs34434715 | 106 | A>T | UniProt ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000019.10:g.40389587C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389587C>T Locations: - p.Ala106Thr (UniProt:Q8NE63) Source type: mixed Cross-references: | |||||||
rs79236726 | 106 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.51) Somatic: No Population frequencies: - MAF: 0.00627944 (1000Genomes) Accession: NC_000019.10:g.40389586G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389586G>A Locations: - p.Ala106Val (Ensembl:ENST00000291823) - c.317C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs75999496 | 108 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389580A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389580A>G Locations: - p.Leu108Pro (Ensembl:ENST00000291823) - c.323T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079378364 | 109 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40389578G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389578G>A Locations: - p.Pro109Ser (Ensembl:ENST00000291823) - c.325C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs747946015 | 110 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.805) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389575C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389575C>G Locations: - p.Ala110Pro (Ensembl:ENST00000291823) - c.328G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs747946015 | 110 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.467) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40389575C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389575C>T Locations: - p.Ala110Thr (Ensembl:ENST00000291823) - c.328G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1030401738 | 111 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389572G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389572G>A Locations: - p.Arg111Cys (Ensembl:ENST00000291823) - c.331C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1026949470 | 111 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.662) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389571C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389571C>T Locations: - p.Arg111His (Ensembl:ENST00000291823) - c.332G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs781013832 | 114 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389563G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389563G>A Locations: - p.Arg114Cys (Ensembl:ENST00000291823) - c.340C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs962058548 | 114 | R>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40389562C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389562C>T Locations: - p.Arg114His (Ensembl:ENST00000291823) - c.341G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs996806991 | 115 | T>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389559G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389559G>C Locations: - p.Thr115Arg (Ensembl:ENST00000291823) - c.344C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs751175620 | 117 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.863) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40389553G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389553G>A Locations: - p.Thr117Ile (Ensembl:ENST00000291823) - c.350C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 117 | T>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40389553G>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389553G>T Locations: - c.350C>A (NCI-TCGA:ENST00000291823) - p.T117N (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99396956 | 118 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000019.10:g.40389550A>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389550A>G Locations: - c.353T>C (NCI-TCGA:ENST00000291823) - p.L118P (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 119 | Q>H | 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_000019.10:g.40389546C>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389546C>A Locations: - c.357G>T (NCI-TCGA:ENST00000291823) - p.Q119H (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs757837797 | 122 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000019.10:g.40389539T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389539T>C Locations: - p.Thr122Ala (Ensembl:ENST00000291823) - c.364A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2145721124 | 122 | T>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40389538G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389538G>C Locations: - p.Thr122Arg (Ensembl:ENST00000291823) - c.365C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs142915464 | 123 | A>V | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389535G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389535G>A Locations: - p.Ala123Val (Ensembl:ENST00000291823) - c.368C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 124 | L>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000019.10:g.40389532_40389533insG Consequence type: frameshift Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389532_40389533insG Locations: - c.370dup (NCI-TCGA:ENST00000291823) - p.L124Pfs*13 (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52520411 | 125 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.596) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000019.10:g.40389530C>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389530C>T Locations: - c.373G>A (NCI-TCGA:ENST00000291823) - p.A125T (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs753035027 | 126 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389526C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389526C>T Locations: - p.Arg126Gln (Ensembl:ENST00000291823) - c.377G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs144825243 | 126 | R>W | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.923) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389527G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389527G>A Locations: - p.Arg126Trp (Ensembl:ENST00000291823) - c.376C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs767870024 | 127 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389524G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389524G>A Locations: - p.Leu127Phe (Ensembl:ENST00000291823) - c.379C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs371633633 | 129 | E>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389518C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389518C>G Locations: - p.Glu129Gln (Ensembl:ENST00000291823) - c.385G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1477615632 | 131 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40389512C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389512C>A Locations: - p.Ala131Ser (Ensembl:ENST00000291823) - c.391G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1246292512 | 133 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.40389506T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389506T>C Locations: - p.Ile133Val (Ensembl:ENST00000291823) - c.397A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 134 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389503G>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389503G>A Locations: - c.400C>T (NCI-TCGA:ENST00000291823) - p.H134Y (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2079377780 | 135 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389499G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389499G>A Locations: - p.Ala135Val (Ensembl:ENST00000291823) - c.404C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1468373327 | 142 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40389478A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389478A>G Locations: - p.Ile142Thr (Ensembl:ENST00000291823) - c.425T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079377663 | 143 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389475A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389475A>G Locations: - p.Met143Thr (Ensembl:ENST00000291823) - c.428T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs903243596 | 145 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389469A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389469A>G Locations: - p.Val145Ala (Ensembl:ENST00000291823) - c.434T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs769896103 | 148 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.40389460G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389460G>A Locations: - p.Thr148Ile (Ensembl:ENST00000291823) - c.443C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs769896103 | 148 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.621) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.40389460G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389460G>T Locations: - p.Thr148Asn (Ensembl:ENST00000291823) - c.443C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1599646534 | 148 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.621) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.40389461T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389461T>G Locations: - p.Thr148Pro (Ensembl:ENST00000291823) - c.442A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs748082189 | 149 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389458G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389458G>A Locations: - p.Arg149Cys (Ensembl:ENST00000291823) - c.445C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs776313176 | 149 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389457C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389457C>T Locations: - p.Arg149His (Ensembl:ENST00000291823) - c.446G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs776313176 | 149 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.873) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389457C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389457C>A Locations: - p.Arg149Leu (Ensembl:ENST00000291823) - c.446G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1172093641 | 150 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40389454C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389454C>T Locations: - p.Cys150Tyr (Ensembl:ENST00000291823) - c.449G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1348494874 | 151 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40389451G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389451G>A Locations: - p.Pro151Leu (Ensembl:ENST00000291823) - c.452C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079377421 | 154 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.499) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40389442A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40389442A>G Locations: - p.Val154Ala (Ensembl:ENST00000291823) - c.461T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 156 | V>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384138A>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384138A>T Locations: - c.467T>A (NCI-TCGA:ENST00000291823) - p.V156E (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1599643843 | 156 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384138A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384138A>C Locations: - p.Val156Gly (Ensembl:ENST00000291823) - c.467T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1325764906 | 157 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.742) - SIFT: tolerated (0.06) - PolyPhen: probably damaging (0.982) - SIFT: tolerated (0.19) Somatic: No Population frequencies: - MAF: 0.000004498 (gnomAD) Accession: NC_000019.10:g.40384136T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384136T>C Locations: - p.I157V (NCI-TCGA:ENST00000291823) - p.Ile157Val (Ensembl:ENST00000291823) - c.469A>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV99396375 | 158 | D>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.40384132T>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384132T>G Locations: - c.473A>C (NCI-TCGA:ENST00000291823) - p.D158A (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52525404 rs2079351953 | 160 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.40384127C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384127C>T Locations: - p.G160R (NCI-TCGA:ENST00000291823) - p.Gly160Arg (Ensembl:ENST00000291823) - c.478G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs756715560 | 162 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384121C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384121C>G Locations: - p.Ala162Pro (Ensembl:ENST00000291823) - c.484G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52521494 | 163 | S>N | 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_000019.10:g.40384117C>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384117C>T Locations: - c.488G>A (NCI-TCGA:ENST00000291823) - p.S163N (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1483890261 | 163 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40384118T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384118T>G Locations: - p.Ser163Arg (Ensembl:ENST00000291823) - c.487A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079351831 | 163 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40384116G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384116G>C Locations: - p.Ser163Arg (Ensembl:ENST00000291823) - c.489C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs755420431 | 164 | I>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384114A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384114A>C Locations: - p.Ile164Ser (Ensembl:ENST00000291823) - c.491T>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs755420431 | 164 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384114A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384114A>G Locations: - p.Ile164Thr (Ensembl:ENST00000291823) - c.491T>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs200937693 | 164 | I>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.806) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000019.10:g.40384115T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384115T>C Locations: - p.Ile164Val (Ensembl:ENST00000291823) - c.490A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1328891678 | 166 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40384109T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384109T>A Locations: - p.Ser166Cys (Ensembl:ENST00000291823) - c.496A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1328891678 | 166 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.841) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40384109T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384109T>G Locations: - p.Ser166Arg (Ensembl:ENST00000291823) - c.496A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079351730 | 166 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.6) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000019.10:g.40384108C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384108C>G Locations: - p.Ser166Thr (Ensembl:ENST00000291823) - c.497G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs780526664 | 167 | E>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40384106C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384106C>A Locations: - p.Glu167Ter (Ensembl:ENST00000291823) - c.499G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599643814 | 168 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384102A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384102A>C Locations: - p.Val168Gly (Ensembl:ENST00000291823) - c.503T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079351664 | 168 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40384103C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384103C>T Locations: - p.Val168Met (Ensembl:ENST00000291823) - c.502G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1171547119 | 169 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000019.10:g.40384100G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384100G>A Locations: - p.Arg169Cys (Ensembl:ENST00000291823) - c.505C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52523374 rs201085696 | 169 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.04) - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.40384099C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384099C>T Locations: - p.R169H (NCI-TCGA:ENST00000291823) - p.Arg169His (Ensembl:ENST00000291823) - c.506G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs201085696 | 169 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40384099C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384099C>G Locations: - p.Arg169Pro (Ensembl:ENST00000291823) - c.506G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1474702512 | 170 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000019.10:g.40384097A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384097A>G Locations: - p.Tyr170His (Ensembl:ENST00000291823) - c.508T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs765240481 | 171 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40384093A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384093A>G Locations: - p.Val171Ala (Ensembl:ENST00000291823) - c.512T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs765240481 | 171 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384093A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384093A>C Locations: - p.Val171Gly (Ensembl:ENST00000291823) - c.512T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
VAR_040555 rs55964225 | 171 | V>M | UniProt ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000019.10:g.40384094C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384094C>T Locations: - p.Val171Met (UniProt:Q8NE63) Source type: mixed Cross-references: | |||||||
rs762023461 | 172 | K>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40384090T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384090T>G Locations: - p.Lys172Thr (Ensembl:ENST00000291823) - c.515A>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079351468 | 174 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384085G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384085G>T Locations: - p.Pro174Thr (Ensembl:ENST00000291823) - c.520C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079351452 | 176 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384079T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384079T>G Locations: - p.Ile176Leu (Ensembl:ENST00000291823) - c.526A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079351415 | 178 | S>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40384072G>T Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384072G>T Locations: - p.Ser178Ter (Ensembl:ENST00000291823) - c.533C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 178 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384072G>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384072G>A Locations: - c.533C>T (NCI-TCGA:ENST00000291823) - p.S178L (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2079351382 | 179 | R>C | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384070G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384070G>A Locations: - p.Arg179Cys (Ensembl:ENST00000291823) - c.535C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs764129980 | 179 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40384069C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384069C>T Locations: - p.Arg179His (Ensembl:ENST00000291823) - c.536G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52520798 rs764129980 | 179 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003997 (gnomAD) Accession: NC_000019.10:g.40384069C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384069C>A Locations: - p.R179L (NCI-TCGA:ENST00000291823) - p.Arg179Leu (Ensembl:ENST00000291823) - c.536G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs764129980 | 179 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384069C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384069C>G Locations: - p.Arg179Pro (Ensembl:ENST00000291823) - c.536G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079351292 | 182 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384060C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384060C>T Locations: - p.Arg182Gln (Ensembl:ENST00000291823) - c.545G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs767356290 | 182 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384061G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384061G>A Locations: - p.Arg182Trp (Ensembl:ENST00000291823) - c.544C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99396699 | 183 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.40384057G>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384057G>A Locations: - c.548C>T (NCI-TCGA:ENST00000291823) - p.A183V (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52519235 | 184 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.40384054G>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384054G>A Locations: - c.551C>T (NCI-TCGA:ENST00000291823) - p.P184L (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1387617697 | 184 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384054G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384054G>C Locations: - p.Pro184Arg (Ensembl:ENST00000291823) - c.551C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99397111 | 185 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.40384050C>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384050C>G Locations: - c.555G>C (NCI-TCGA:ENST00000291823) - p.E185D (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1241260301 | 189 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384040C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384040C>T Locations: - p.Gly189Arg (Ensembl:ENST00000291823) - c.565G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1241260301 | 189 | G>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384040C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384040C>A Locations: - p.Gly189Trp (Ensembl:ENST00000291823) - c.565G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1324801852 | 190 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384036A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384036A>G Locations: - p.Leu190Pro (Ensembl:ENST00000291823) - c.569T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079351134 | 191 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384034G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384034G>C Locations: - p.Pro191Ala (Ensembl:ENST00000291823) - c.571C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079351116 | 191 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384033G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384033G>A Locations: - p.Pro191Leu (Ensembl:ENST00000291823) - c.572C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs771792535 | 192 | F>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384031A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384031A>C Locations: - p.Phe192Val (Ensembl:ENST00000291823) - c.574T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs759191946 | 193 | C>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384028A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384028A>G Locations: - p.Cys193Arg (Ensembl:ENST00000291823) - c.577T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs748876993 | 198 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40384013C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384013C>T Locations: - p.Val198Met (Ensembl:ENST00000291823) - c.592G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52520080 | 199 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000019.10:g.40384009C>T Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384009C>T Locations: - c.596G>A (NCI-TCGA:ENST00000291823) - p.W199* (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1240189178 | 200 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384006G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384006G>A Locations: - p.Ser200Phe (Ensembl:ENST00000291823) - c.599C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs777117806 | 201 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40384003A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40384003A>G Locations: - p.Leu201Pro (Ensembl:ENST00000291823) - c.602T>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs143873993 | 203 | C>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40383996G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383996G>T Locations: - p.Cys203Ter (Ensembl:ENST00000291823) - c.609C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52521251 rs757043623 | 204 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.11) - PolyPhen: benign (0.02) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0.00002388 (gnomAD) Accession: NC_000019.10:g.40383995C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383995C>T Locations: - p.V204I (NCI-TCGA:ENST00000291823) - p.Val204Ile (Ensembl:ENST00000291823) - c.610G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079350855 | 205 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.763) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40383991A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383991A>G Locations: - p.Met205Thr (Ensembl:ENST00000291823) - c.614T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs780579566 | 206 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40383988G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383988G>A Locations: - p.Ala206Val (Ensembl:ENST00000291823) - c.617C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599643728 | 209 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383979T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383979T>G Locations: - p.His209Pro (Ensembl:ENST00000291823) - c.626A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079350804 | 209 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.821) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.40383980G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383980G>A Locations: - p.His209Tyr (Ensembl:ENST00000291823) - c.625C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 210 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383977G>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383977G>T Locations: - c.628C>A (NCI-TCGA:ENST00000291823) - p.L210M (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2079350772 | 211 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383973C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383973C>T Locations: - p.Gly211Asp (Ensembl:ENST00000291823) - c.632G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1473878008 | 213 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383967G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383967G>A Locations: - p.Pro213Leu (Ensembl:ENST00000291823) - c.638C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2145717926 | 214 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383965G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383965G>A Locations: - p.Leu214Phe (Ensembl:ENST00000291823) - c.640C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1186866702 | 216 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383959G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383959G>C Locations: - p.Pro216Ala (Ensembl:ENST00000291823) - c.646C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079350676 | 216 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383958G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383958G>C Locations: - p.Pro216Arg (Ensembl:ENST00000291823) - c.647C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1186866702 | 216 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383959G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383959G>A Locations: - p.Pro216Ser (Ensembl:ENST00000291823) - c.646C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079350592 | 217 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383955C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383955C>T Locations: - p.Gly217Asp (Ensembl:ENST00000291823) - c.650G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs750816448 | 217 | G>R | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383956C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383956C>G Locations: - p.Gly217Arg (Ensembl:ENST00000291823) - c.649G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs779255747 | 218 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000019.10:g.40383951G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383951G>T Locations: - p.Asn218Lys (Ensembl:ENST00000291823) - c.654C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs150436293 | 219 | N>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383948G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383948G>T Locations: - p.Asn219Lys (Ensembl:ENST00000291823) - c.657C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs753979656 | 220 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.927) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383945C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383945C>A Locations: - p.Glu220Asp (Ensembl:ENST00000291823) - c.660G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1034023576 | 220 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383947C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383947C>T Locations: - p.Glu220Lys (Ensembl:ENST00000291823) - c.658G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1353697202 | 220 | E>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383946T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383946T>A Locations: - p.Glu220Val (Ensembl:ENST00000291823) - c.659A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1003425015 | 222 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383941C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383941C>G Locations: - p.Asp222His (Ensembl:ENST00000291823) - c.664G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1003425015 | 222 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.439) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383941C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383941C>T Locations: - p.Asp222Asn (Ensembl:ENST00000291823) - c.664G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079350362 | 223 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.882) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383937T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383937T>C Locations: - p.Gln223Arg (Ensembl:ENST00000291823) - c.668A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52520308 rs752564037 | 225 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.403) - SIFT: deleterious (0.04) - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.14) Somatic: No Population frequencies: - MAF: 0.000007958 (gnomAD) Accession: NC_000019.10:g.40383932G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383932G>A Locations: - p.R225C (NCI-TCGA:ENST00000291823) - p.Arg225Cys (Ensembl:ENST00000291823) - c.673C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52520008 rs767437240 | 225 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00005571 (gnomAD) Accession: NC_000019.10:g.40383931C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383931C>T Locations: - p.R225H (NCI-TCGA:ENST00000291823) - p.Arg225His (Ensembl:ENST00000291823) - c.674G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1298339321 | 226 | Y>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40383929A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383929A>T Locations: - p.Tyr226Asn (Ensembl:ENST00000291823) - c.676T>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs759382507 | 228 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383922C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383922C>T Locations: - p.Cys228Tyr (Ensembl:ENST00000291823) - c.683G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52519009 rs2079350141 | 229 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: tolerated (0.05) - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000019.10:g.40383920C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383920C>T Locations: - p.E229K (NCI-TCGA:ENST00000291823) - p.Glu229Lys (Ensembl:ENST00000291823) - c.685G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599643644 | 230 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383917T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383917T>G Locations: - p.Thr230Pro (Ensembl:ENST00000291823) - c.688A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1017465649 | 232 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383911C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383911C>T Locations: - p.Gly232Ser (Ensembl:ENST00000291823) - c.694G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52523106 | 233 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.156) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000019.10:g.40383907A>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383907A>G Locations: - c.698T>C (NCI-TCGA:ENST00000291823) - p.L233P (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079350079 | 233 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.309) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40383908G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383908G>C Locations: - p.Leu233Val (Ensembl:ENST00000291823) - c.697C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs770659093 | 235 | K>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40383902T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383902T>A Locations: - p.Lys235Ter (Ensembl:ENST00000291823) - c.703A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs762474104 | 236 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000019.10:g.40383899G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383899G>T Locations: - p.Pro236Thr (Ensembl:ENST00000291823) - c.706C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs772802613 | 237 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.789) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.40383896G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383896G>A Locations: - p.His237Tyr (Ensembl:ENST00000291823) - c.709C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52520269 | 238 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000019.10:g.40383893G>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383893G>T Locations: - c.712C>A (NCI-TCGA:ENST00000291823) - p.L238M (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs747527574 | 238 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40383893G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383893G>C Locations: - p.Leu238Val (Ensembl:ENST00000291823) - c.712C>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079349944 | 240 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.639) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40383887G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383887G>A Locations: - p.His240Tyr (Ensembl:ENST00000291823) - c.718C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079349876 | 241 | A>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383883G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383883G>T Locations: - p.Ala241Asp (Ensembl:ENST00000291823) - c.722C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs780777730 | 241 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.40383884C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383884C>T Locations: - p.Ala241Thr (Ensembl:ENST00000291823) - c.721G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs746295654 | 242 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383880G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383880G>T Locations: - p.Ala242Asp (Ensembl:ENST00000291823) - c.725C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52520848 rs888213578 | 242 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.355) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383881C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383881C>T Locations: - p.A242T (NCI-TCGA:ENST00000291823) - p.Ala242Thr (Ensembl:ENST00000291823) - c.724G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2145717809 | 243 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40383878A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383878A>G Locations: - p.Cys243Arg (Ensembl:ENST00000291823) - c.727T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079349771 | 243 | C>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40383876G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383876G>C Locations: - p.Cys243Trp (Ensembl:ENST00000291823) - c.729C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs749410438 | 246 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.40383867G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383867G>T Locations: - p.His246Gln (Ensembl:ENST00000291823) - c.738C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV99396459 | 247 | H>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.55) Somatic: Yes Accession: NC_000019.10:g.40383865T>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383865T>A Locations: - c.740A>T (NCI-TCGA:ENST00000291823) - p.H247L (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52526248 | 247 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000019.10:g.40383864G>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383864G>T Locations: - c.741C>A (NCI-TCGA:ENST00000291823) - p.H247Q (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2145717797 | 248 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383863A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383863A>G Locations: - p.Phe248Leu (Ensembl:ENST00000291823) - c.742T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1349505835 | 250 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000019.10:g.40383856T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383856T>C Locations: - p.Lys250Arg (Ensembl:ENST00000291823) - c.749A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52524404 rs756252191 | 251 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.04) - PolyPhen: benign (0.011) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.00002785 (gnomAD) Accession: NC_000019.10:g.40383854G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383854G>A Locations: - p.R251C (NCI-TCGA:ENST00000291823) - p.Arg251Cys (Ensembl:ENST00000291823) - c.751C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs756252191 | 251 | R>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40383854G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383854G>C Locations: - p.Arg251Gly (Ensembl:ENST00000291823) - c.751C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs752760077 | 251 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.861) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.804) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.00001592 (gnomAD) Accession: NC_000019.10:g.40383853C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383853C>T Locations: - p.R251H (NCI-TCGA:ENST00000291823) - p.Arg251His (Ensembl:ENST00000291823) - c.752G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs756252191 | 251 | R>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.181) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40383854G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383854G>T Locations: - p.Arg251Ser (Ensembl:ENST00000291823) - c.751C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs199630536 | 252 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC gnomAD dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.23) - PolyPhen: benign (0.181) - SIFT: tolerated (0.79) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) - MAF: 0.000003979 (gnomAD) Accession: NC_000019.10:g.40383849G>C, NC_000019.10:g.40383849G>T Codon: AAC/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383849G>C, NC_000019.10:g.40383849G>T Locations: - p.Asn252Lys (Ensembl:ENST00000291823) - c.756C>G (Ensembl:ENST00000291823) - p.N252K (NCI-TCGA:ENST00000291823) - c.756C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs75602333 | 252 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000019.10:g.40383850T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383850T>G Locations: - p.Asn252Thr (Ensembl:ENST00000291823) - c.755A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs920899826 | 253 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.40383847G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383847G>A Locations: - p.Pro253Leu (Ensembl:ENST00000291823) - c.758C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079349559 | 253 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.40383848G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383848G>T Locations: - p.Pro253Thr (Ensembl:ENST00000291823) - c.757C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1466619079 | 254 | H>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.239) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.40383845G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383845G>T Locations: - p.His254Asn (Ensembl:ENST00000291823) - c.760C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599643584 | 254 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.40383844T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383844T>G Locations: - p.His254Pro (Ensembl:ENST00000291823) - c.761A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1466619079 | 254 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.453) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.40383845G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383845G>A Locations: - p.His254Tyr (Ensembl:ENST00000291823) - c.760C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52524957 | 255 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000019.10:g.40383841G>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383841G>T Locations: - c.764C>A (NCI-TCGA:ENST00000291823) - p.P255H (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079349447 | 255 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40383841G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383841G>A Locations: - p.Pro255Leu (Ensembl:ENST00000291823) - c.764C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1298739960 | 257 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40383835G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383835G>T Locations: - p.Ala257Asp (Ensembl:ENST00000291823) - c.770C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs200561773 | 257 | A>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.40383836C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383836C>T Locations: - p.Ala257Thr (Ensembl:ENST00000291823) - c.769G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1171426008 | 258 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000019.10:g.40383832G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383832G>A Locations: - p.Ala258Val (Ensembl:ENST00000291823) - c.773C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1477550015 | 259 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.40383828G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383828G>T Locations: - p.Asn259Lys (Ensembl:ENST00000291823) - c.777C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1422037767 | 260 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.40383826G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383826G>A Locations: - p.Pro260Leu (Ensembl:ENST00000291823) - c.779C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079349230 | 263 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40383818G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383818G>A Locations: - p.Leu263Phe (Ensembl:ENST00000291823) - c.787C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs944975576 | 264 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40383815T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383815T>C Locations: - p.Lys264Glu (Ensembl:ENST00000291823) - c.790A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1193420779 | 265 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40383811G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383811G>A Locations: - p.Ser265Phe (Ensembl:ENST00000291823) - c.794C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs571026735 | 266 | S>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000019.10:g.40383808G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383808G>A Locations: - p.Ser266Leu (Ensembl:ENST00000291823) - c.797C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs772674739 | 266 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000019.10:g.40383809A>T Codon: TCG/ACG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383809A>T Locations: - p.Ser266Thr (Ensembl:ENST00000291823) - c.796T>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079349076 | 268 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40383802T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383802T>C Locations: - p.Asp268Gly (Ensembl:ENST00000291823) - c.803A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs746309036 | 269 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.40383800A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383800A>G Locations: - p.Tyr269His (Ensembl:ENST00000291823) - c.805T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs148038861 | 271 | A>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.15) Somatic: No Population frequencies: - MAF: 0.00196232 (1000Genomes) Accession: NC_000019.10:g.40383793G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383793G>C Locations: - p.Ala271Gly (Ensembl:ENST00000291823) - c.812C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs148038861 | 271 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.05) Somatic: No Population frequencies: - MAF: 0.00196232 (1000Genomes) Accession: NC_000019.10:g.40383793G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383793G>A Locations: - p.Ala271Val (Ensembl:ENST00000291823) - c.812C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs373462941 | 272 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.774) - SIFT: tolerated (0.21) Somatic: No Population frequencies: - MAF: 0.00001618 (gnomAD) Accession: NC_000019.10:g.40383791C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383791C>T Locations: - p.E272K (NCI-TCGA:ENST00000291823) - p.Glu272Lys (Ensembl:ENST00000291823) - c.814G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079348963 | 272 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40383790T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383790T>A Locations: - p.Glu272Val (Ensembl:ENST00000291823) - c.815A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs200281362 | 273 | T>M | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40383787G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383787G>A Locations: - p.Thr273Met (Ensembl:ENST00000291823) - c.818C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs200281362 | 273 | T>R | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40383787G>C Codon: ACG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40383787G>C Locations: - p.Thr273Arg (Ensembl:ENST00000291823) - c.818C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1354383095 | 275 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40381168C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381168C>A Locations: - p.Val275Leu (Ensembl:ENST00000291823) - c.823G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs756981986 | 276 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40381165G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381165G>A Locations: - p.Arg276Cys (Ensembl:ENST00000291823) - c.826C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs756981986 | 276 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.338) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.40381165G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381165G>C Locations: - p.Arg276Gly (Ensembl:ENST00000291823) - c.826C>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs753471608 | 276 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40381164C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381164C>T Locations: - p.Arg276His (Ensembl:ENST00000291823) - c.827G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1054277285 | 278 | L>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.40381158A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381158A>G Locations: - p.Leu278Ser (Ensembl:ENST00000291823) - c.833T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1382461701 | 279 | E>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40381156C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381156C>A Locations: - p.Glu279Ter (Ensembl:ENST00000291823) - c.835G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs766833738 | 279 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40381155T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381155T>C Locations: - p.Glu279Gly (Ensembl:ENST00000291823) - c.836A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs763475952 | 280 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381153G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381153G>A Locations: - p.Arg280Cys (Ensembl:ENST00000291823) - c.838C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52519635 rs773591468 | 280 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000004257 (gnomAD) Accession: NC_000019.10:g.40381152C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381152C>T Locations: - p.R280H (NCI-TCGA:ENST00000291823) - p.Arg280His (Ensembl:ENST00000291823) - c.839G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs770087997 | 281 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381150G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381150G>A Locations: - p.Arg281Cys (Ensembl:ENST00000291823) - c.841C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs776906530 | 281 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381149C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381149C>T Locations: - p.Arg281His (Ensembl:ENST00000291823) - c.842G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs776906530 | 281 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40381149C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381149C>A Locations: - p.Arg281Leu (Ensembl:ENST00000291823) - c.842G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs201281781 | 282 | K>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40381145C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381145C>A Locations: - p.Lys282Asn (Ensembl:ENST00000291823) - c.846G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1422952263 | 283 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40381143T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381143T>C Locations: - p.Tyr283Cys (Ensembl:ENST00000291823) - c.848A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs747112058 | 283 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.40381144A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381144A>G Locations: - p.Tyr283His (Ensembl:ENST00000291823) - c.847T>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs373642488 | 284 | M>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.40381141T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381141T>A Locations: - p.Met284Leu (Ensembl:ENST00000291823) - c.850A>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs771938025 | 284 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000019.10:g.40381140A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381140A>G Locations: - p.Met284Thr (Ensembl:ENST00000291823) - c.851T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1488552842 | 285 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000019.10:g.40381138G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381138G>A Locations: - p.Leu285Phe (Ensembl:ENST00000291823) - c.853C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1262408848 | 286 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.40381134T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381134T>C Locations: - p.Lys286Arg (Ensembl:ENST00000291823) - c.857A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs145519209 | 287 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: deleterious (0.05) - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000004161 (gnomAD) Accession: NC_000019.10:g.40381131G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381131G>A Locations: - p.S287L (NCI-TCGA:ENST00000291823) - p.Ser287Leu (Ensembl:ENST00000291823) - c.860C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52520597 | 289 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.307) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.40381125T>C Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381125T>C Locations: - c.866A>G (NCI-TCGA:ENST00000291823) - p.D289G (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs757181826 | 289 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381126C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381126C>T Locations: - p.Asp289Asn (Ensembl:ENST00000291823) - c.865G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079334455 | 290 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40381123G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381123G>A Locations: - p.Gln290Ter (Ensembl:ENST00000291823) - c.868C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079334455 | 290 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.40381123G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381123G>C Locations: - p.Gln290Glu (Ensembl:ENST00000291823) - c.868C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs370183538 | 290 | Q>H | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381121C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381121C>A Locations: - p.Gln290His (Ensembl:ENST00000291823) - c.870G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079334435 | 290 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381122T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381122T>C Locations: - p.Gln290Arg (Ensembl:ENST00000291823) - c.869A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99396456 | 291 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.40381119A>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381119A>G Locations: - c.872T>C (NCI-TCGA:ENST00000291823) - p.I291T (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079334390 | 291 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381120T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381120T>C Locations: - p.Ile291Val (Ensembl:ENST00000291823) - c.871A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs976136541 | 293 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000019.10:g.40381114T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381114T>C Locations: - p.Thr293Ala (Ensembl:ENST00000291823) - c.877A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079334294 | 294 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381110A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381110A>G Locations: - p.Val294Ala (Ensembl:ENST00000291823) - c.881T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079334313 | 294 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.40381111C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381111C>G Locations: - p.Val294Leu (Ensembl:ENST00000291823) - c.880G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs140411181 | 295 | N>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40381107T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381107T>C Locations: - p.Asn295Ser (Ensembl:ENST00000291823) - c.884A>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs772511144 | 296 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000019.10:g.40381104C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381104C>T Locations: - p.Gly296Asp (Ensembl:ENST00000291823) - c.887G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs772511144 | 296 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: tolerated - low confidence (0.52) Somatic: No Accession: NC_000019.10:g.40381104C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381104C>A Locations: - p.Gly296Val (Ensembl:ENST00000291823) - c.887G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs140926477 | 297 | G>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.76) Somatic: No Population frequencies: - MAF: 0.00117739 (1000Genomes) Accession: NC_000019.10:g.40381102C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381102C>T Locations: - p.Gly297Ser (Ensembl:ENST00000291823) - c.889G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1298137538 | 298 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000019.10:g.40381099T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381099T>C Locations: - p.Ser298Gly (Ensembl:ENST00000291823) - c.892A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs907995369 | 298 | S>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.40381098C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381098C>A Locations: - p.Ser298Ile (Ensembl:ENST00000291823) - c.893G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs907995369 | 298 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000019.10:g.40381098C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381098C>T Locations: - p.Ser298Asn (Ensembl:ENST00000291823) - c.893G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs777338552 | 298 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000019.10:g.40381097A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381097A>C Locations: - p.Ser298Arg (Ensembl:ENST00000291823) - c.894T>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs144600040 | 299 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) - PolyPhen: benign (0) - SIFT: tolerated (0.97) Somatic: No Population frequencies: - MAF: 0.000004068 (gnomAD) Accession: NC_000019.10:g.40381095A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381095A>G Locations: - p.V299A (NCI-TCGA:ENST00000291823) - p.Val299Ala (Ensembl:ENST00000291823) - c.896T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs144600040 | 299 | V>E | ESP ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000019.10:g.40381095A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381095A>T Locations: - p.Val299Glu (Ensembl:ENST00000291823) - c.896T>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52520793 | 299 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.54) Somatic: Yes Accession: NC_000019.10:g.40381096C>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381096C>A Locations: - c.895G>T (NCI-TCGA:ENST00000291823) - p.V299L (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs752178632 | 300 | A>D | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000019.10:g.40381092G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381092G>T Locations: - p.Ala300Asp (Ensembl:ENST00000291823) - c.899C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs752178632 | 300 | A>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000019.10:g.40381092G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381092G>C Locations: - p.Ala300Gly (Ensembl:ENST00000291823) - c.899C>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs11670988 | 302 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.40381086C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381086C>A Locations: - p.Arg302Leu (Ensembl:ENST00000291823) - c.905G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
VAR_030578 rs11670988 | 302 | R>Q | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000019.10:g.40381086C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381086C>T Locations: - p.Arg302Gln (UniProt:Q8NE63) Source type: mixed Cross-references: | |||||||
rs763464903 | 302 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40381087G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381087G>A Locations: - p.Arg302Trp (Ensembl:ENST00000291823) - c.904C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1422747409 | 303 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.40381083A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381083A>G Locations: - p.Leu303Pro (Ensembl:ENST00000291823) - c.908T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
RCV000881666 rs79330270 | 304 | T>I | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.71) Somatic: No Population frequencies: - MAF: 0.00419 (ClinVar) Accession: NC_000019.10:g.40381080G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381080G>A Locations: - p.Thr304Ile (Ensembl:ENST00000291823) - c.911C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs79330270 | 304 | T>N | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000019.10:g.40381080G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381080G>T Locations: - p.Thr304Asn (Ensembl:ENST00000291823) - c.911C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs775458172 | 305 | F>L | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.40381078A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381078A>G Locations: - p.Phe305Leu (Ensembl:ENST00000291823) - c.913T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1468175738 | 306 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40381074G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381074G>A Locations: - p.Pro306Leu (Ensembl:ENST00000291823) - c.917C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs745936286 | 308 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.343) - SIFT: tolerated (0.9) Somatic: No Accession: NC_000019.10:g.40381068C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381068C>T Locations: - p.Arg308Gln (Ensembl:ENST00000291823) - c.923G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs139337380 | 308 | R>W | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40381069G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381069G>A Locations: - p.Arg308Trp (Ensembl:ENST00000291823) - c.922C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52520701 rs774483576 | 310 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.37) - PolyPhen: benign (0.005) - SIFT: tolerated (0.5) Somatic: No Population frequencies: - MAF: 0.00004044 (gnomAD) Accession: NC_000019.10:g.40381062G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381062G>A Locations: - p.A310V (NCI-TCGA:ENST00000291823) - p.Ala310Val (Ensembl:ENST00000291823) - c.929C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs770966226 | 312 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40381056G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381056G>C Locations: - p.Ala312Gly (Ensembl:ENST00000291823) - c.935C>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1386582968 | 312 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381057C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381057C>T Locations: - p.Ala312Thr (Ensembl:ENST00000291823) - c.934G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs770966226 | 312 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381056G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381056G>A Locations: - p.Ala312Val (Ensembl:ENST00000291823) - c.935C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs755743447 | 313 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40381052C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381052C>G Locations: - p.Glu313Asp (Ensembl:ENST00000291823) - c.939G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079333568 | 313 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.40381054C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381054C>T Locations: - p.Glu313Lys (Ensembl:ENST00000291823) - c.937G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs144871802 | 314 | H>D | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.19) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40381051G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381051G>C Locations: - p.His314Asp (Ensembl:ENST00000291823) - c.940C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1165703533 | 314 | H>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000019.10:g.40381050T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381050T>A Locations: - p.His314Leu (Ensembl:ENST00000291823) - c.941A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs144871802 | 314 | H>Y | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40381051G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381051G>A Locations: - p.His314Tyr (Ensembl:ENST00000291823) - c.940C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079333402 | 315 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.671) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.40381047G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381047G>T Locations: - p.Ala315Asp (Ensembl:ENST00000291823) - c.944C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1010853279 | 315 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.40381048C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381048C>G Locations: - p.Ala315Pro (Ensembl:ENST00000291823) - c.943G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1010853279 | 315 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.553) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000019.10:g.40381048C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381048C>T Locations: - p.Ala315Thr (Ensembl:ENST00000291823) - c.943G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52523351 rs374741709 | 316 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001211 (gnomAD) Accession: NC_000019.10:g.40381045C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381045C>T Locations: - p.D316N (NCI-TCGA:ENST00000291823) - p.Asp316Asn (Ensembl:ENST00000291823) - c.946G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs374741709 | 316 | D>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381045C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381045C>A Locations: - p.Asp316Tyr (Ensembl:ENST00000291823) - c.946G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1279885237 | 318 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.40381039T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381039T>C Locations: - p.Lys318Glu (Ensembl:ENST00000291823) - c.952A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99396689 rs893696566 | 319 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: tolerated (0.17) - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000019.10:g.40381035C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381035C>T Locations: - p.S319N (NCI-TCGA:ENST00000291823) - p.Ser319Asn (Ensembl:ENST00000291823) - c.956G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1248325840 | 320 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381031C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381031C>T Locations: - p.Met320Ile (Ensembl:ENST00000291823) - c.960G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1251304652 | 321 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381030C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381030C>T Locations: - p.Val321Met (Ensembl:ENST00000291823) - c.961G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs867325766 | 322 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.754) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40381027C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381027C>T Locations: - p.Glu322Lys (Ensembl:ENST00000291823) - c.964G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 323 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381023A>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381023A>G Locations: - c.968T>C (NCI-TCGA:ENST00000291823) - p.L323P (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2079333188 | 323 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.853) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381024G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381024G>C Locations: - p.Leu323Val (Ensembl:ENST00000291823) - c.967C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1272334881 | 325 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381017T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381017T>C Locations: - p.Lys325Arg (Ensembl:ENST00000291823) - c.974A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs371188356 | 326 | R>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381015G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381015G>A Locations: - p.Arg326Cys (Ensembl:ENST00000291823) - c.976C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs371188356 | 326 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40381015G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381015G>C Locations: - p.Arg326Gly (Ensembl:ENST00000291823) - c.976C>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs760809424 | 326 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381014C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381014C>T Locations: - p.Arg326His (Ensembl:ENST00000291823) - c.977G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52526682 | 326 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.40381014C>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381014C>A Locations: - c.977G>T (NCI-TCGA:ENST00000291823) - p.R326L (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs371188356 | 326 | R>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40381015G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381015G>T Locations: - p.Arg326Ser (Ensembl:ENST00000291823) - c.976C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1257107914 | 327 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.40381010C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381010C>T Locations: - p.Met327Ile (Ensembl:ENST00000291823) - c.981G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs775846215 | 328 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381009G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381009G>C Locations: - p.Leu328Val (Ensembl:ENST00000291823) - c.982C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs767834907 | 330 | W>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381003A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381003A>C Locations: - p.Trp330Gly (Ensembl:ENST00000291823) - c.988T>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs767834907 | 330 | W>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40381003A>T Codon: TGG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40381003A>T Locations: - p.Trp330Arg (Ensembl:ENST00000291823) - c.988T>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1447032352 | 331 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40380998C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380998C>G Locations: - p.Glu331Asp (Ensembl:ENST00000291823) - c.993G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs567036647 | 331 | E>G | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.827) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380999T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380999T>C Locations: - p.Glu331Gly (Ensembl:ENST00000291823) - c.992A>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV104390948 rs1326236017 | 334 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.542) - SIFT: tolerated (0.44) - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.000007995 (gnomAD) Accession: NC_000019.10:g.40380991C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380991C>T Locations: - p.E334K (NCI-TCGA:ENST00000291823) - p.Glu334Lys (Ensembl:ENST00000291823) - c.1000G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52519286 | 335 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.40380988G>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380988G>A Locations: - c.1003C>T (NCI-TCGA:ENST00000291823) - p.R335C (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1402753274 | 335 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380987C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380987C>T Locations: - p.Arg335His (Ensembl:ENST00000291823) - c.1004G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1171935228 | 336 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380983G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380983G>C Locations: - p.Ile336Met (Ensembl:ENST00000291823) - c.1008C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1381928723 | 339 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.40380975C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380975C>T Locations: - p.Ser339Asn (Ensembl:ENST00000291823) - c.1016G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs527880457 | 339 | S>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380974A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380974A>C Locations: - p.Ser339Arg (Ensembl:ENST00000291823) - c.1017T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1440507712 | 340 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.57) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.40380972G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380972G>A Locations: - p.Ala340Val (Ensembl:ENST00000291823) - c.1019C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs749185979 | 343 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.40380964G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380964G>A Locations: - p.Arg343Cys (Ensembl:ENST00000291823) - c.1027C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs772895580 | 343 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.40380963C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380963C>T Locations: - p.Arg343His (Ensembl:ENST00000291823) - c.1028G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs749185979 | 343 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40380964G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380964G>T Locations: - p.Arg343Ser (Ensembl:ENST00000291823) - c.1027C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs769566712 | 344 | H>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40380960T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380960T>G Locations: - p.His344Pro (Ensembl:ENST00000291823) - c.1031A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs55869814 | 344 | H>Q | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00569074 (1000Genomes) Accession: NC_000019.10:g.40380959G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380959G>T Locations: - p.His344Gln (Ensembl:ENST00000291823) - c.1032C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs769566712 | 344 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380960T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380960T>C Locations: - p.His344Arg (Ensembl:ENST00000291823) - c.1031A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079332647 | 345 | P>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40380957G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380957G>T Locations: - p.Pro345His (Ensembl:ENST00000291823) - c.1034C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs368679795 | 347 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.407) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40380952C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380952C>G Locations: - p.Val347Leu (Ensembl:ENST00000291823) - c.1039G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs368679795 | 347 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40380952C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380952C>T Locations: - p.Val347Met (Ensembl:ENST00000291823) - c.1039G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
TCGA novel | 348 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.276) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380949A>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380949A>G Locations: - c.1042T>C (NCI-TCGA:ENST00000291823) - p.S348P (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs147334390 | 348 | S>T | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000019.10:g.40380949A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380949A>T Locations: - p.Ser348Thr (Ensembl:ENST00000291823) - c.1042T>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs779503136 | 349 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.40380944C>T, NC_000019.10:g.40380944C>G Codon: ATG/ATA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380944C>T, NC_000019.10:g.40380944C>G Locations: - p.Met349Ile (Ensembl:ENST00000291823) - c.1047G>A (Ensembl:ENST00000291823) - c.1047G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079332515 | 351 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40380940G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380940G>A Locations: - p.Gln351Ter (Ensembl:ENST00000291823) - c.1051C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079332475 | 351 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000019.10:g.40380938C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380938C>G Locations: - p.Gln351His (Ensembl:ENST00000291823) - c.1053G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs757786495 | 351 | Q>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.40380939T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380939T>A Locations: - p.Gln351Leu (Ensembl:ENST00000291823) - c.1052A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs754317067 | 353 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.815) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40380934G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380934G>A Locations: - p.Arg353Cys (Ensembl:ENST00000291823) - c.1057C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs764500728 | 353 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: tolerated (0.25) - PolyPhen: possibly damaging (0.815) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000004011 (gnomAD) Accession: NC_000019.10:g.40380933C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380933C>T Locations: - p.R353H (NCI-TCGA:ENST00000291823) - p.Arg353His (Ensembl:ENST00000291823) - c.1058G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 357 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000019.10:g.40380920C>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380920C>A Locations: - c.1071G>T (NCI-TCGA:ENST00000291823) - p.E357D (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52521541 rs767888140 | 357 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.622) - SIFT: tolerated (0.15) - PolyPhen: possibly damaging (0.464) - SIFT: tolerated (0.29) Somatic: No Population frequencies: - MAF: 0.000004012 (gnomAD) Accession: NC_000019.10:g.40380922C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380922C>T Locations: - p.E357K (NCI-TCGA:ENST00000291823) - p.Glu357Lys (Ensembl:ENST00000291823) - c.1069G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079332246 | 360 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000019.10:g.40380911G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380911G>C Locations: - p.His360Gln (Ensembl:ENST00000291823) - c.1080C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs376803678 | 360 | H>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40380913G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380913G>A Locations: - p.His360Tyr (Ensembl:ENST00000291823) - c.1078C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1418876878 | 361 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380910A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380910A>G Locations: - p.Tyr361His (Ensembl:ENST00000291823) - c.1081T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1157042287 | 362 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40380907A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380907A>G Locations: - p.Tyr362His (Ensembl:ENST00000291823) - c.1084T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1464240604 | 363 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40380904G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380904G>A Locations: - p.Gln363Ter (Ensembl:ENST00000291823) - c.1087C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52520602 COSV99397042 | 365 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40380897G>T Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380897G>T Locations: - c.1094C>A (NCI-TCGA:ENST00000291823) - p.S365* (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52520602 COSV99397042 rs1473930178 | 365 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.228) - SIFT: deleterious (0.02) - PolyPhen: benign (0.054) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000004011 (gnomAD) Accession: NC_000019.10:g.40380897G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380897G>A Locations: - p.S365L (NCI-TCGA:ENST00000291823) - p.Ser365Leu (Ensembl:ENST00000291823) - c.1094C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV99397047 | 365 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000019.10:g.40380898A>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380898A>T Locations: - c.1093T>A (NCI-TCGA:ENST00000291823) - p.S365T (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs773268904 | 367 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380892G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380892G>A Locations: - p.Arg367Cys (Ensembl:ENST00000291823) - c.1099C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs372254628 | 367 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.1) - PolyPhen: benign (0.003) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.00001204 (gnomAD) Accession: NC_000019.10:g.40380891C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380891C>T Locations: - p.R367H (NCI-TCGA:ENST00000291823) - p.Arg367His (Ensembl:ENST00000291823) - c.1100G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1217731295 | 368 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40380887G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380887G>T Locations: - p.Ser368Arg (Ensembl:ENST00000291823) - c.1104C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1282683929 | 369 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000019.10:g.40380885T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380885T>C Locations: - p.Tyr369Cys (Ensembl:ENST00000291823) - c.1106A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs761717255 | 369 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40380886A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380886A>G Locations: - p.Tyr369His (Ensembl:ENST00000291823) - c.1105T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs776262262 | 370 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.815) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380883G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380883G>A Locations: - p.Arg370Cys (Ensembl:ENST00000291823) - c.1108C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52519214 rs959035795 | 370 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: tolerated (0.07) - PolyPhen: benign (0.012) - SIFT: tolerated (0.15) Somatic: No Population frequencies: - MAF: 0.000008037 (gnomAD) Accession: NC_000019.10:g.40380882C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380882C>T Locations: - p.R370H (NCI-TCGA:ENST00000291823) - p.Arg370His (Ensembl:ENST00000291823) - c.1109G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs768332960 | 371 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40380880G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380880G>A Locations: - p.Leu371Phe (Ensembl:ENST00000291823) - c.1111C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1230944734 | 371 | L>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.40380879A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380879A>T Locations: - p.Leu371His (Ensembl:ENST00000291823) - c.1112T>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs768332960 | 371 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000019.10:g.40380880G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380880G>C Locations: - p.Leu371Val (Ensembl:ENST00000291823) - c.1111C>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs192823203 | 372 | S>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40380876G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380876G>A Locations: - p.Ser372Leu (Ensembl:ENST00000291823) - c.1115C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs745355164 | 373 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40380873A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380873A>G Locations: - p.Leu373Pro (Ensembl:ENST00000291823) - c.1118T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 374 | Q>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.201) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000019.10:g.40380871G>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380871G>T Locations: - c.1120C>A (NCI-TCGA:ENST00000291823) - p.Q374K (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1371970899 | 375 | V>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000019.10:g.40380867A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380867A>C Locations: - p.Val375Gly (Ensembl:ENST00000291823) - c.1124T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs778389824 | 375 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000019.10:g.40380868C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380868C>G Locations: - p.Val375Leu (Ensembl:ENST00000291823) - c.1123G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079331740 | 377 | G>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40380862C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380862C>A Locations: - p.Gly377Trp (Ensembl:ENST00000291823) - c.1129G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1407260544 | 379 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000019.10:g.40380856G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380856G>C Locations: - p.Pro379Ala (Ensembl:ENST00000291823) - c.1135C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs895580650 | 379 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.40380855G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380855G>A Locations: - p.Pro379Leu (Ensembl:ENST00000291823) - c.1136C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1407260544 | 379 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.40380856G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380856G>A Locations: - p.Pro379Ser (Ensembl:ENST00000291823) - c.1135C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs756543762 | 380 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.40380853G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380853G>A Locations: - p.Pro380Ser (Ensembl:ENST00000291823) - c.1138C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
VAR_040556 rs55760165 | 381 | T>M | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000019.10:g.40380849G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380849G>A Locations: - p.Thr381Met (UniProt:Q8NE63) Source type: mixed Cross-references: | |||||||
rs2079331611 | 381 | T>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000019.10:g.40380850T>G Codon: ACG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380850T>G Locations: - p.Thr381Pro (Ensembl:ENST00000291823) - c.1141A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079331611 | 381 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000019.10:g.40380850T>A Codon: ACG/TCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380850T>A Locations: - p.Thr381Ser (Ensembl:ENST00000291823) - c.1141A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99396315 | 382 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000019.10:g.40380847G>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380847G>T Locations: - c.1144C>A (NCI-TCGA:ENST00000291823) - p.P382T (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs763153397 | 383 | V>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000019.10:g.40380844C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380844C>A Locations: - p.Val383Phe (Ensembl:ENST00000291823) - c.1147G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs763153397 | 383 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000019.10:g.40380844C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380844C>T Locations: - p.Val383Ile (Ensembl:ENST00000291823) - c.1147G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs765261216 | 384 | V>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000019.10:g.40380841C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380841C>T Locations: - p.Val384Met (Ensembl:ENST00000291823) - c.1150G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs573926493 | 385 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380837G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380837G>A Locations: - p.Ala385Val (Ensembl:ENST00000291823) - c.1154C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
VAR_040557 rs56365273 | 386 | A>T | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0235479 (1000Genomes) Accession: NC_000019.10:g.40380835C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380835C>T Locations: - p.Ala386Thr (UniProt:Q8NE63) Source type: mixed Cross-references: | |||||||
rs760328588 | 387 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.40380832C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380832C>T Locations: - p.Glu387Lys (Ensembl:ENST00000291823) - c.1159G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52520945 | 388 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.259) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000019.10:g.40380829C>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380829C>A Locations: - c.1162G>T (NCI-TCGA:ENST00000291823) - p.D388Y (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079331331 | 391 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.666) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.40380819G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380819G>A Locations: - p.Pro391Leu (Ensembl:ENST00000291823) - c.1172C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs771599017 | 392 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40380815G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380815G>T Locations: - p.Tyr392Ter (Ensembl:ENST00000291823) - c.1176C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs911410727 | 392 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.267) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.40380817A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380817A>G Locations: - p.Tyr392His (Ensembl:ENST00000291823) - c.1174T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079331261 | 393 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.40380814A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380814A>G Locations: - p.Tyr393His (Ensembl:ENST00000291823) - c.1177T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs145453056 | 394 | C>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000019.10:g.40380811A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380811A>G Locations: - p.Cys394Arg (Ensembl:ENST00000291823) - c.1180T>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079331193 | 397 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.354) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000019.10:g.40380802C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380802C>T Locations: - p.Glu397Lys (Ensembl:ENST00000291823) - c.1189G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs75693631 | 398 | E>D | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.00196232 (1000Genomes) Accession: NC_000019.10:g.40380797C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380797C>G Locations: - p.Glu398Asp (Ensembl:ENST00000291823) - c.1194G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1402537184 | 398 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.40380799C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380799C>T Locations: - p.Glu398Lys (Ensembl:ENST00000291823) - c.1192G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1402537184 | 398 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.40380799C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380799C>G Locations: - p.Glu398Gln (Ensembl:ENST00000291823) - c.1192G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs900542114 | 399 | K>E | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40380796T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380796T>C Locations: - p.Lys399Glu (Ensembl:ENST00000291823) - c.1195A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs144819691 | 400 | E>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000019.10:g.40380792T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380792T>G Locations: - p.Glu400Ala (Ensembl:ENST00000291823) - c.1199A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2145715602 | 401 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000019.10:g.40380790C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380790C>G Locations: - p.Ala401Pro (Ensembl:ENST00000291823) - c.1201G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs780475269 | 402 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000019.10:g.40380786G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380786G>C Locations: - p.Ala402Gly (Ensembl:ENST00000291823) - c.1205C>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs780475269 | 402 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000019.10:g.40380786G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380786G>A Locations: - p.Ala402Val (Ensembl:ENST00000291823) - c.1205C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079330890 | 403 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40380784C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380784C>A Locations: - p.Gly403Cys (Ensembl:ENST00000291823) - c.1207G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079330811 | 404 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000019.10:g.40380779C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380779C>T Locations: - p.Met404Ile (Ensembl:ENST00000291823) - c.1212G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs546303663 | 404 | M>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000019.10:g.40380780A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380780A>T Locations: - p.Met404Lys (Ensembl:ENST00000291823) - c.1211T>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079330857 | 404 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000019.10:g.40380781T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380781T>C Locations: - p.Met404Val (Ensembl:ENST00000291823) - c.1210A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52521820 | 405 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000019.10:g.40380777C>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380777C>T Locations: - c.1214G>A (NCI-TCGA:ENST00000291823) - p.G405D (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079330795 | 405 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.43) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000019.10:g.40380778C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380778C>G Locations: - p.Gly405Arg (Ensembl:ENST00000291823) - c.1213G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs750550390 | 406 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000019.10:g.40380774C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380774C>T Locations: - p.Ser406Asn (Ensembl:ENST00000291823) - c.1217G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
VAR_040558 RCV000959273 rs56094851 | 406 | S>R | Benign (Ensembl, ClinVar) | UniProt ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.0022 (ClinVar) - MAF: 0.00215856 (1000Genomes) Accession: NC_000019.10:g.40380773A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380773A>C Locations: - p.Ser406Arg (UniProt:Q8NE63) Source type: mixed | |||||||
rs768637510 | 407 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000019.10:g.40380771A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380771A>G Locations: - p.Val407Ala (Ensembl:ENST00000291823) - c.1220T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs140678043 | 409 | G>R | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.40380766C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380766C>G Locations: - p.Gly409Arg (Ensembl:ENST00000291823) - c.1225G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs140678043 | 409 | G>S | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000019.10:g.40380766C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380766C>T Locations: - p.Gly409Ser (Ensembl:ENST00000291823) - c.1225G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs764001974 | 410 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000019.10:g.40380763T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380763T>C Locations: - p.Ser410Gly (Ensembl:ENST00000291823) - c.1228A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs374274463 | 411 | S>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000019.10:g.40380758G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380758G>T Locations: - p.Ser411Arg (Ensembl:ENST00000291823) - c.1233C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs150935653 | 412 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.40380756G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380756G>A Locations: - p.Pro412Leu (Ensembl:ENST00000291823) - c.1235C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52519079 rs1555799118 | 415 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000007965 (gnomAD) Accession: NC_000019.10:g.40380748G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380748G>A Locations: - p.R415* (NCI-TCGA:ENST00000291823) - p.Arg415Ter (Ensembl:ENST00000291823) - c.1243C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs770960175 | 415 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000019.10:g.40380747C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380747C>A Locations: - p.Arg415Leu (Ensembl:ENST00000291823) - c.1244G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs770960175 | 415 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000019.10:g.40380747C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380747C>T Locations: - p.Arg415Gln (Ensembl:ENST00000291823) - c.1244G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52521710 rs2079330504 | 417 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.02) - PolyPhen: benign (0.095) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000019.10:g.40380742C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380742C>T Locations: - p.E417K (NCI-TCGA:ENST00000291823) - p.Glu417Lys (Ensembl:ENST00000291823) - c.1249G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs56117722 | 421 | G>C | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.00392465 (1000Genomes) Accession: NC_000019.10:g.40380730C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380730C>A Locations: - p.Gly421Cys (Ensembl:ENST00000291823) - c.1261G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
VAR_040559 RCV000966071 rs56117722 | 421 | G>S | Benign (Ensembl, ClinVar) | UniProt ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00399 (ClinVar) - MAF: 0.00392465 (1000Genomes) Accession: NC_000019.10:g.40380730C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380730C>T Locations: - p.Gly421Ser (UniProt:Q8NE63) Source type: mixed | |||||||
rs1298782648 | 425 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.153) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40380718C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380718C>G Locations: - p.Ala425Pro (Ensembl:ENST00000291823) - c.1273G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1298782648 | 425 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.40380718C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380718C>A Locations: - p.Ala425Ser (Ensembl:ENST00000291823) - c.1273G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079330457 | 426 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.40380715T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380715T>C Locations: - p.Ile426Val (Ensembl:ENST00000291823) - c.1276A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
CA174822 RCV000149343 rs193920880 | 427 | D>N | Malignant tumor of prostate (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.547) - SIFT: tolerated (0.12) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000019.10:g.40380712C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380712C>T Locations: - p.Asp427Asn (Ensembl:ENST00000291823) - c.1279G>A (Ensembl:ENST00000291823) Disease association: - Malignant tumor of prostate Source type: large scale study Cross-references: | |||||||
rs1435946564 | 428 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40380709G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380709G>A Locations: - p.Gln428Ter (Ensembl:ENST00000291823) - c.1282C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079330391 | 429 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40380706G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380706G>T Locations: - p.Leu429Met (Ensembl:ENST00000291823) - c.1285C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs927662459 | 430 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.233) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380701A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380701A>C Locations: - p.Asp430Glu (Ensembl:ENST00000291823) - c.1290T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs148849368 | 430 | D>H | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.761) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380703C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380703C>G Locations: - p.Asp430His (Ensembl:ENST00000291823) - c.1288G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52521210 | 431 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000019.10:g.40380700C>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380700C>T Locations: - c.1291G>A (NCI-TCGA:ENST00000291823) - p.D431N (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079330297 | 433 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000019.10:g.40380693C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380693C>G Locations: - p.Ser433Thr (Ensembl:ENST00000291823) - c.1298G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079330270 | 435 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40380688G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380688G>A Locations: - p.Gln435Ter (Ensembl:ENST00000291823) - c.1303C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs548675375 | 437 | A>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380682C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380682C>T Locations: - p.Ala437Thr (Ensembl:ENST00000291823) - c.1309G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs144382583 | 438 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.40380679C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380679C>T Locations: - p.Gly438Arg (Ensembl:ENST00000291823) - c.1312G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1344797102 | 440 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.40380673C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380673C>T Locations: - p.Gly440Arg (Ensembl:ENST00000291823) - c.1318G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs746022577 | 440 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40380672C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380672C>A Locations: - p.Gly440Val (Ensembl:ENST00000291823) - c.1319G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1347126238 | 441 | L>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious - low confidence (0.04) - PolyPhen: possibly damaging (0.892) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000007963 (gnomAD) Accession: NC_000019.10:g.40380669A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380669A>T Locations: - p.L441Q (NCI-TCGA:ENST00000291823) - p.Leu441Gln (Ensembl:ENST00000291823) - c.1322T>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2145715468 | 442 | W>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380667A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380667A>G Locations: - p.Trp442Arg (Ensembl:ENST00000291823) - c.1324T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079330079 | 442 | W>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380666C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380666C>G Locations: - p.Trp442Ser (Ensembl:ENST00000291823) - c.1325G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs866596162 | 443 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.40380663C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380663C>T Locations: - p.Gly443Asp (Ensembl:ENST00000291823) - c.1328G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs757350055 | 444 | E>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40380661C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380661C>A Locations: - p.Glu444Ter (Ensembl:ENST00000291823) - c.1330G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs757350055 | 444 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40380661C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380661C>T Locations: - p.Glu444Lys (Ensembl:ENST00000291823) - c.1330G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs753888671 | 445 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000019.10:g.40380658T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380658T>C Locations: - p.Thr445Ala (Ensembl:ENST00000291823) - c.1333A>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs764054866 | 445 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40380657G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380657G>A Locations: - p.Thr445Ile (Ensembl:ENST00000291823) - c.1334C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1415902760 | 446 | C>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40380653G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380653G>T Locations: - p.Cys446Ter (Ensembl:ENST00000291823) - c.1338C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs752508778 | 446 | C>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000019.10:g.40380655A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380655A>G Locations: - p.Cys446Arg (Ensembl:ENST00000291823) - c.1336T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1304708196 | 446 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40380654C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380654C>T Locations: - p.Cys446Tyr (Ensembl:ENST00000291823) - c.1337G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1375405206 | 447 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40380652T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380652T>A Locations: - p.Thr447Ser (Ensembl:ENST00000291823) - c.1339A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs767158577 | 448 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40380649T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380649T>C Locations: - p.Asn448Asp (Ensembl:ENST00000291823) - c.1342A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079329843 | 448 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000019.10:g.40380647A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380647A>T Locations: - p.Asn448Lys (Ensembl:ENST00000291823) - c.1344T>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs367871526 | 448 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.18) - PolyPhen: benign (0) - SIFT: tolerated (0.48) Somatic: No Population frequencies: - MAF: 0.00004382 (gnomAD) Accession: NC_000019.10:g.40380648T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380648T>C Locations: - p.N448S (NCI-TCGA:ENST00000291823) - p.Asn448Ser (Ensembl:ENST00000291823) - c.1343A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs201121603 | 449 | A>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40380645G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380645G>T Locations: - p.Ala449Glu (Ensembl:ENST00000291823) - c.1346C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079329824 | 449 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000019.10:g.40380646C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380646C>T Locations: - p.Ala449Thr (Ensembl:ENST00000291823) - c.1345G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52521230 rs201121603 | 449 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.39) - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000019.10:g.40380645G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380645G>A Locations: - p.A449V (NCI-TCGA:ENST00000291823) - p.Ala449Val (Ensembl:ENST00000291823) - c.1346C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs772820387 | 450 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000019.10:g.40380642A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380642A>G Locations: - p.Val450Ala (Ensembl:ENST00000291823) - c.1349T>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079329743 | 451 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000019.10:g.40380640A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380640A>T Locations: - p.Ser451Thr (Ensembl:ENST00000291823) - c.1351T>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1485023480 | 452 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000019.10:g.40380635G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380635G>T Locations: - p.Asp452Glu (Ensembl:ENST00000291823) - c.1356C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs747472575 | 452 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.40380637C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380637C>T Locations: - p.Asp452Asn (Ensembl:ENST00000291823) - c.1354G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079329639 | 455 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.40380627A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380627A>G Locations: - p.Val455Ala (Ensembl:ENST00000291823) - c.1364T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079329639 | 455 | V>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000019.10:g.40380627A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380627A>T Locations: - p.Val455Asp (Ensembl:ENST00000291823) - c.1364T>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs551987675 | 455 | V>F | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380628C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380628C>A Locations: - p.Val455Phe (Ensembl:ENST00000291823) - c.1363G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs551987675 | 455 | V>I | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.3) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380628C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380628C>T Locations: - p.Val455Ile (Ensembl:ENST00000291823) - c.1363G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1238342476 | 456 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.715) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380624G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380624G>T Locations: - p.Pro456His (Ensembl:ENST00000291823) - c.1367C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079329600 | 456 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.40380625G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380625G>A Locations: - p.Pro456Ser (Ensembl:ENST00000291823) - c.1366C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1488490289 | 457 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.373) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000019.10:g.40380622G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380622G>A Locations: - p.Leu457Phe (Ensembl:ENST00000291823) - c.1369C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs746242632 | 457 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000019.10:g.40380621A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380621A>G Locations: - p.Leu457Pro (Ensembl:ENST00000291823) - c.1370T>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1488490289 | 457 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000019.10:g.40380622G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380622G>C Locations: - p.Leu457Val (Ensembl:ENST00000291823) - c.1369C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs757436239 | 459 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000019.10:g.40380616C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380616C>A Locations: - p.Ala459Ser (Ensembl:ENST00000291823) - c.1375G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs757436239 | 459 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000019.10:g.40380616C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380616C>T Locations: - p.Ala459Thr (Ensembl:ENST00000291823) - c.1375G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52524657 | 461 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.63) Somatic: Yes Accession: NC_000019.10:g.40380609A>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380609A>G Locations: - c.1382T>C (NCI-TCGA:ENST00000291823) - p.I461T (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs749399323 | 462 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000019.10:g.40380606G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380606G>T Locations: - p.Thr462Asn (Ensembl:ENST00000291823) - c.1385C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1407668175 | 463 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.195) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.40380603C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380603C>T Locations: - p.Gly463Asp (Ensembl:ENST00000291823) - c.1388G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1355316393 | 464 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000019.10:g.40380599G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380599G>T Locations: - p.His464Gln (Ensembl:ENST00000291823) - c.1392C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079329337 | 465 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.40380598G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380598G>A Locations: - p.His465Tyr (Ensembl:ENST00000291823) - c.1393C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2145715381 | 466 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.40380595C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380595C>T Locations: - p.Val466Met (Ensembl:ENST00000291823) - c.1396G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1334982807 | 468 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000019.10:g.40380587G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380587G>C Locations: - p.Asp468Glu (Ensembl:ENST00000291823) - c.1404C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs541882458 | 468 | D>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: No Population frequencies: - MAF: 0.00313972 (1000Genomes) Accession: NC_000019.10:g.40380589C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380589C>T Locations: - p.Asp468Asn (Ensembl:ENST00000291823) - c.1402G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs200430830 | 469 | S>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000019.10:g.40380585G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380585G>A Locations: - p.Ser469Leu (Ensembl:ENST00000291823) - c.1406C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs751347435 | 470 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000019.10:g.40380582C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380582C>T Locations: - p.Gly470Asp (Ensembl:ENST00000291823) - c.1409G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 472 | E>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.761) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.40380576T>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380576T>G Locations: - c.1415A>C (NCI-TCGA:ENST00000291823) - p.E472A (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1164949666 | 474 | I>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380570A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380570A>C Locations: - p.Ile474Ser (Ensembl:ENST00000291823) - c.1421T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99396911 | 475 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: tolerated - low confidence (0.1) Somatic: Yes Accession: NC_000019.10:g.40380567A>G Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380567A>G Locations: - c.1424T>C (NCI-TCGA:ENST00000291823) - p.L475P (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2145715353 | 475 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.87) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.40380567A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380567A>T Locations: - p.Leu475Gln (Ensembl:ENST00000291823) - c.1424T>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1415107108 | 476 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40380565C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380565C>G Locations: - p.Ala476Pro (Ensembl:ENST00000291823) - c.1426G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079329089 | 476 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.545) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40380564G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380564G>A Locations: - p.Ala476Val (Ensembl:ENST00000291823) - c.1427C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079329063 | 478 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40380559A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380559A>G Locations: - p.Tyr478His (Ensembl:ENST00000291823) - c.1432T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs749976582 | 480 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000019.10:g.40380552C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380552C>T Locations: - p.Ser480Asn (Ensembl:ENST00000291823) - c.1439G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079328976 | 480 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40380551G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380551G>T Locations: - p.Ser480Arg (Ensembl:ENST00000291823) - c.1440C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
VAR_040560 rs55801979 | 481 | R>C | UniProt ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000019.10:g.40380550G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380550G>A Locations: - p.Arg481Cys (UniProt:Q8NE63) Source type: mixed Cross-references: | |||||||
rs752400189 | 481 | R>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380549C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380549C>T Locations: - p.Arg481His (Ensembl:ENST00000291823) - c.1442G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs752400189 | 481 | R>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380549C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380549C>A Locations: - p.Arg481Leu (Ensembl:ENST00000291823) - c.1442G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1599641275 | 484 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000019.10:g.40380540C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380540C>G Locations: - p.Gly484Ala (Ensembl:ENST00000291823) - c.1451G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs34251706 | 484 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.40380541C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380541C>T Locations: - p.Gly484Ser (Ensembl:ENST00000291823) - c.1450G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52519481 rs759855803 | 485 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.333) - SIFT: tolerated - low confidence (0.07) - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Population frequencies: - MAF: 0.00001612 (gnomAD) Accession: NC_000019.10:g.40380538G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380538G>A Locations: - p.R485C (NCI-TCGA:ENST00000291823) - p.Arg485Cys (Ensembl:ENST00000291823) - c.1453C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1220980290 | 485 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000019.10:g.40380537C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380537C>T Locations: - p.Arg485His (Ensembl:ENST00000291823) - c.1454G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs774733788 | 486 | H>Q | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000019.10:g.40380533G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380533G>C Locations: - p.His486Gln (Ensembl:ENST00000291823) - c.1458C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1327574324 | 486 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000019.10:g.40380534T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380534T>C Locations: - p.His486Arg (Ensembl:ENST00000291823) - c.1457A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1380910310 | 489 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40380526G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380526G>A Locations: - p.Arg489Cys (Ensembl:ENST00000291823) - c.1465C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1380910310 | 489 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40380526G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380526G>C Locations: - p.Arg489Gly (Ensembl:ENST00000291823) - c.1465C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs771162709 | 489 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.508) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.40380525C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380525C>T Locations: - p.Arg489His (Ensembl:ENST00000291823) - c.1466G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs771162709 | 489 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40380525C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380525C>A Locations: - p.Arg489Leu (Ensembl:ENST00000291823) - c.1466G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs372245283 | 493 | A>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.96) Somatic: No Accession: NC_000019.10:g.40380513G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380513G>T Locations: - p.Ala493Glu (Ensembl:ENST00000291823) - c.1478C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV99396664 rs2079328614 | 493 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.36) - PolyPhen: benign (0) - SIFT: tolerated (0.73) Somatic: Yes Accession: NC_000019.10:g.40380514C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380514C>T Locations: - p.A493T (NCI-TCGA:ENST00000291823) - p.Ala493Thr (Ensembl:ENST00000291823) - c.1477G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs372245283 | 493 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000019.10:g.40380513G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380513G>A Locations: - p.Ala493Val (Ensembl:ENST00000291823) - c.1478C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs748245677 | 495 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40380507G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380507G>C Locations: - p.Ser495Cys (Ensembl:ENST00000291823) - c.1484C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1462397050 | 496 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.40380505T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380505T>G Locations: - p.Lys496Gln (Ensembl:ENST00000291823) - c.1486A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs781040015 | 497 | S>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.233) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.40380502A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380502A>C Locations: - p.Ser497Ala (Ensembl:ENST00000291823) - c.1489T>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079328413 | 498 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380497G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380497G>C Locations: - p.Asp498Glu (Ensembl:ENST00000291823) - c.1494C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs116502794 | 498 | D>N | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.40380499C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380499C>T Locations: - p.Asp498Asn (Ensembl:ENST00000291823) - c.1492G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs750031687 | 500 | N>K | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000019.10:g.40380491G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380491G>C Locations: - p.Asn500Lys (Ensembl:ENST00000291823) - c.1500C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99396516 | 501 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000019.10:g.40380488G>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380488G>T Locations: - c.1503C>A (NCI-TCGA:ENST00000291823) - p.F501L (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079328303 | 501 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40380489A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380489A>G Locations: - p.Phe501Ser (Ensembl:ENST00000291823) - c.1502T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs970437287 | 503 | N>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380484T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380484T>G Locations: - p.Asn503His (Ensembl:ENST00000291823) - c.1507A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs138395908 | 504 | L>F | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380481G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380481G>A Locations: - p.Leu504Phe (Ensembl:ENST00000291823) - c.1510C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079328186 | 505 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.852) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.40380478T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380478T>G Locations: - p.Ile505Leu (Ensembl:ENST00000291823) - c.1513A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs754578230 | 506 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.40380475G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380475G>A Locations: - p.Arg506Trp (Ensembl:ENST00000291823) - c.1516C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079328118 | 507 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380471A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380471A>G Locations: - p.Leu507Pro (Ensembl:ENST00000291823) - c.1520T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs147737549 | 508 | S>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.377) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.40380467G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380467G>C Locations: - p.Ser508Arg (Ensembl:ENST00000291823) - c.1524C>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs753354451 | 508 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40380468C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380468C>G Locations: - p.Ser508Thr (Ensembl:ENST00000291823) - c.1523G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1251261258 | 509 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.904) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40380466G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380466G>C Locations: - p.Gln509Glu (Ensembl:ENST00000291823) - c.1525C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs760036906 | 510 | V>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000019.10:g.40380463C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380463C>A Locations: - p.Val510Phe (Ensembl:ENST00000291823) - c.1528G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs760036906 | 510 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000019.10:g.40380463C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380463C>T Locations: - p.Val510Ile (Ensembl:ENST00000291823) - c.1528G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs774589219 | 511 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380459G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380459G>A Locations: - p.Ser511Leu (Ensembl:ENST00000291823) - c.1532C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1314291306 | 511 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.40380460A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380460A>G Locations: - p.Ser511Pro (Ensembl:ENST00000291823) - c.1531T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs374330900 | 512 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.40380456G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380456G>A Locations: - p.Pro512Leu (Ensembl:ENST00000291823) - c.1535C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1213540122 | 512 | P>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40380457G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380457G>T Locations: - p.Pro512Thr (Ensembl:ENST00000291823) - c.1534C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs769980915 | 513 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000019.10:g.40380454C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380454C>T Locations: - p.Glu513Lys (Ensembl:ENST00000291823) - c.1537G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1599641145 | 517 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000019.10:g.40380442G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380442G>C Locations: - p.Pro517Ala (Ensembl:ENST00000291823) - c.1549C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599641135 | 518 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000019.10:g.40380439A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380439A>G Locations: - p.Cys518Arg (Ensembl:ENST00000291823) - c.1552T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs557953855 | 519 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated - low confidence (0.24) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380435C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380435C>T Locations: - p.Arg519Gln (Ensembl:ENST00000291823) - c.1556G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs573403377 | 519 | R>W | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380436G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380436G>A Locations: - p.Arg519Trp (Ensembl:ENST00000291823) - c.1555C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs201533714 | 520 | G>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated - low confidence (0.57) Somatic: No Accession: NC_000019.10:g.40380433C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380433C>T Locations: - p.Gly520Ser (Ensembl:ENST00000291823) - c.1558G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52525132 | 521 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: Yes Accession: NC_000019.10:g.40380429C>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380429C>T Locations: - c.1562G>A (NCI-TCGA:ENST00000291823) - p.S521N (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs746908714 | 522 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40380427T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380427T>A Locations: - p.Ser522Cys (Ensembl:ENST00000291823) - c.1564A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1251398937 | 522 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000019.10:g.40380426C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380426C>T Locations: - p.Ser522Asn (Ensembl:ENST00000291823) - c.1565G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs780002750 | 522 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000019.10:g.40380425G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380425G>C Locations: - p.Ser522Arg (Ensembl:ENST00000291823) - c.1566C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs745650023 | 523 | W>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40380423C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380423C>A Locations: - p.Trp523Leu (Ensembl:ENST00000291823) - c.1568G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs202073264 | 523 | W>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000784929 (1000Genomes) Accession: NC_000019.10:g.40380424A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380424A>G Locations: - p.Trp523Arg (Ensembl:ENST00000291823) - c.1567T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599641103 | 524 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.40380420T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380420T>C Locations: - p.Glu524Gly (Ensembl:ENST00000291823) - c.1571A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599641093 | 525 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.40380417T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380417T>C Locations: - p.Glu525Gly (Ensembl:ENST00000291823) - c.1574A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs756081821 | 526 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000019.10:g.40380414C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380414C>G Locations: - p.Gly526Ala (Ensembl:ENST00000291823) - c.1577G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs756081821 | 526 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000019.10:g.40380414C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380414C>T Locations: - p.Gly526Glu (Ensembl:ENST00000291823) - c.1577G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52519462 | 526 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.505) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000019.10:g.40380415C>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380415C>T Locations: - c.1576G>A (NCI-TCGA:ENST00000291823) - p.G526R (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs965183164 | 528 | H>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000019.10:g.40380409G>T Codon: CAT/AAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380409G>T Locations: - p.His528Asn (Ensembl:ENST00000291823) - c.1582C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs145675612 | 528 | H>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000019.10:g.40380408T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380408T>C Locations: - p.His528Arg (Ensembl:ENST00000291823) - c.1583A>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs965183164 | 528 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.40380409G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380409G>A Locations: - p.His528Tyr (Ensembl:ENST00000291823) - c.1582C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079327074 | 529 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000019.10:g.40380406G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380406G>A Locations: - p.Leu529Phe (Ensembl:ENST00000291823) - c.1585C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs755442837 | 530 | G>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.40380403C>T, NC_000019.10:g.40380403C>G Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380403C>T, NC_000019.10:g.40380403C>G Locations: - p.Gly530Arg (Ensembl:ENST00000291823) - c.1588G>A (Ensembl:ENST00000291823) - c.1588G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs755442837 | 530 | G>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.329) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.40380403C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380403C>A Locations: - p.Gly530Trp (Ensembl:ENST00000291823) - c.1588G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52524376 | 532 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000019.10:g.40380396G>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380396G>A Locations: - c.1595C>T (NCI-TCGA:ENST00000291823) - p.S532F (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079326962 | 532 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.40380397A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380397A>G Locations: - p.Ser532Pro (Ensembl:ENST00000291823) - c.1594T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1215837295 | 534 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000019.10:g.40380390T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380390T>A Locations: - p.Glu534Val (Ensembl:ENST00000291823) - c.1601A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs139233352 | 535 | P>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000019.10:g.40380388G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380388G>A Locations: - p.Pro535Ser (Ensembl:ENST00000291823) - c.1603C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1271828913 | 536 | L>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000019.10:g.40380384A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380384A>C Locations: - p.Leu536Arg (Ensembl:ENST00000291823) - c.1607T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs773534482 | 538 | I>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated - low confidence (0.71) Somatic: No Accession: NC_000019.10:g.40380379T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380379T>A Locations: - p.Ile538Phe (Ensembl:ENST00000291823) - c.1612A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs773534482 | 538 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.61) Somatic: No Accession: NC_000019.10:g.40380379T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380379T>C Locations: - p.Ile538Val (Ensembl:ENST00000291823) - c.1612A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99397177 | 540 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000019.10:g.40380373G>A Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380373G>A Locations: - c.1618C>T (NCI-TCGA:ENST00000291823) - p.Q540* (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs765475342 | 540 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000019.10:g.40380371C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380371C>A Locations: - p.Gln540His (Ensembl:ENST00000291823) - c.1620G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99396998 rs1210868555 | 541 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40380370G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380370G>A Locations: - p.R541* (NCI-TCGA:ENST00000291823) - p.Arg541Ter (Ensembl:ENST00000291823) - c.1621C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs762046319 | 541 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000019.10:g.40380369C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380369C>G Locations: - p.Arg541Pro (Ensembl:ENST00000291823) - c.1622G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs762046319 | 541 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000019.10:g.40380369C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380369C>T Locations: - p.Arg541Gln (Ensembl:ENST00000291823) - c.1622G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs776587901 | 542 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.72) Somatic: No Accession: NC_000019.10:g.40380365A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380365A>C Locations: - p.Asp542Glu (Ensembl:ENST00000291823) - c.1626T>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs145930387 | 542 | D>N | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380367C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380367C>T Locations: - p.Asp542Asn (Ensembl:ENST00000291823) - c.1624G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs145930387 | 542 | D>Y | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.508) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380367C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380367C>A Locations: - p.Asp542Tyr (Ensembl:ENST00000291823) - c.1624G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs150825946 | 544 | D>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000019.10:g.40380360T>G Codon: GAT/GCT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380360T>G Locations: - p.Asp544Ala (Ensembl:ENST00000291823) - c.1631A>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs150825946 | 544 | D>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000019.10:g.40380360T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380360T>C Locations: - p.Asp544Gly (Ensembl:ENST00000291823) - c.1631A>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs768718132 | 544 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.615) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000019.10:g.40380361C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380361C>G Locations: - p.Asp544His (Ensembl:ENST00000291823) - c.1630G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079326426 | 546 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000019.10:g.40380354G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380354G>A Locations: - p.Pro546Leu (Ensembl:ENST00000291823) - c.1637C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1470661257 | 548 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000019.10:g.40380348A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380348A>G Locations: - p.Ile548Thr (Ensembl:ENST00000291823) - c.1643T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1160510562 | 548 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.81) Somatic: No Accession: NC_000019.10:g.40380349T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380349T>C Locations: - p.Ile548Val (Ensembl:ENST00000291823) - c.1642A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs537706323 | 551 | M>I | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.24) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380338C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380338C>T Locations: - p.Met551Ile (Ensembl:ENST00000291823) - c.1653G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1486909904 | 552 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000019.10:g.40380336G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380336G>A Locations: - p.Thr552Ile (Ensembl:ENST00000291823) - c.1655C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs201954765 | 553 | M>L | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.82) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380334T>A, NC_000019.10:g.40380334T>G Codon: ATG/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380334T>A, NC_000019.10:g.40380334T>G Locations: - p.Met553Leu (Ensembl:ENST00000291823) - c.1657A>T (Ensembl:ENST00000291823) - c.1657A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs748901840 | 553 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000019.10:g.40380333A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380333A>G Locations: - p.Met553Thr (Ensembl:ENST00000291823) - c.1658T>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs201954765 | 553 | M>V | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40380334T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380334T>C Locations: - p.Met553Val (Ensembl:ENST00000291823) - c.1657A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1382302405 | 554 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000019.10:g.40380331C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380331C>G Locations: - p.Glu554Gln (Ensembl:ENST00000291823) - c.1660G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1399710922 | 555 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000019.10:g.40380328C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380328C>T Locations: - p.Ala555Thr (Ensembl:ENST00000291823) - c.1663G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs755706267 | 556 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000019.10:g.40380325C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380325C>T Locations: - p.Glu556Lys (Ensembl:ENST00000291823) - c.1666G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs755706267 | 556 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000019.10:g.40380325C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40380325C>G Locations: - p.Glu556Gln (Ensembl:ENST00000291823) - c.1666G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs769299227 | 557 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000019.10:g.40379768C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379768C>T Locations: - p.Arg557Lys (Ensembl:ENST00000291823) - c.1670G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs769299227 | 557 | R>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000019.10:g.40379768C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379768C>G Locations: - p.Arg557Thr (Ensembl:ENST00000291823) - c.1670G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs747687608 | 558 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000019.10:g.40379766G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379766G>A Locations: - p.Pro558Ser (Ensembl:ENST00000291823) - c.1672C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs747687608 | 558 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000019.10:g.40379766G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379766G>T Locations: - p.Pro558Thr (Ensembl:ENST00000291823) - c.1672C>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs780632288 | 559 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000019.10:g.40379762T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379762T>C Locations: - p.Asp559Gly (Ensembl:ENST00000291823) - c.1676A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52521938 | 559 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.12) Somatic: Yes Accession: NC_000019.10:g.40379763C>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379763C>T Locations: - c.1675G>A (NCI-TCGA:ENST00000291823) - p.D559N (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1280002049 | 561 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.40379756T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379756T>C Locations: - p.Glu561Gly (Ensembl:ENST00000291823) - c.1682A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599640522 | 562 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000019.10:g.40379754G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379754G>C Locations: - p.Leu562Val (Ensembl:ENST00000291823) - c.1684C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599640512 | 564 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000019.10:g.40379747T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379747T>G Locations: - p.Asp564Ala (Ensembl:ENST00000291823) - c.1691A>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1475295510 | 564 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.59) Somatic: No Accession: NC_000019.10:g.40379746G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379746G>T Locations: - p.Asp564Glu (Ensembl:ENST00000291823) - c.1692C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52520756 rs779285376 | 564 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.15) - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.25) Somatic: No Population frequencies: - MAF: 0.000004102 (gnomAD) Accession: NC_000019.10:g.40379748C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379748C>T Locations: - p.D564N (NCI-TCGA:ENST00000291823) - p.Asp564Asn (Ensembl:ENST00000291823) - c.1690G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1240791561 | 565 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000019.10:g.40379745G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379745G>T Locations: - p.Pro565Thr (Ensembl:ENST00000291823) - c.1693C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079320878 | 566 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000019.10:g.40379741C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379741C>G Locations: - p.Ser566Thr (Ensembl:ENST00000291823) - c.1697G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs757701990 | 567 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000019.10:g.40379739T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379739T>C Locations: - p.Ser567Gly (Ensembl:ENST00000291823) - c.1699A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1468671999 | 568 | C>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40379734A>T Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379734A>T Locations: - p.Cys568Ter (Ensembl:ENST00000291823) - c.1704T>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs754133891 | 571 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000019.10:g.40379727C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379727C>T Locations: - p.Glu571Lys (Ensembl:ENST00000291823) - c.1711G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs764420480 | 572 | W>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40379722C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379722C>T Locations: - p.Trp572Ter (Ensembl:ENST00000291823) - c.1716G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs764420480 | 572 | W>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.40379722C>G, NC_000019.10:g.40379722C>A Codon: TGG/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379722C>G, NC_000019.10:g.40379722C>A Locations: - p.Trp572Cys (Ensembl:ENST00000291823) - c.1716G>C (Ensembl:ENST00000291823) - c.1716G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079320761 | 572 | W>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000019.10:g.40379723C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379723C>G Locations: - p.Trp572Ser (Ensembl:ENST00000291823) - c.1715G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079320739 | 573 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.40379720A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379720A>G Locations: - p.Leu573Pro (Ensembl:ENST00000291823) - c.1718T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs752834356 | 574 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.329) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000019.10:g.40379718T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379718T>A Locations: - p.Ser574Cys (Ensembl:ENST00000291823) - c.1720A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs752834356 | 574 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000019.10:g.40379718T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379718T>C Locations: - p.Ser574Gly (Ensembl:ENST00000291823) - c.1720A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1599640485 | 574 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000019.10:g.40379716A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379716A>C Locations: - p.Ser574Arg (Ensembl:ENST00000291823) - c.1722T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2145714456 | 575 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000019.10:g.40379715C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379715C>T Locations: - p.Glu575Lys (Ensembl:ENST00000291823) - c.1723G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs767635822 | 576 | P>T | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000019.10:g.40379712G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379712G>T Locations: - p.Pro576Thr (Ensembl:ENST00000291823) - c.1726C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs759681400 | 577 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.679) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000019.10:g.40379709C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379709C>G Locations: - p.Asp577His (Ensembl:ENST00000291823) - c.1729G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs774403063 | 577 | D>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.40379708T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379708T>A Locations: - p.Asp577Val (Ensembl:ENST00000291823) - c.1730A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs759681400 | 577 | D>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.758) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.40379709C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379709C>A Locations: - p.Asp577Tyr (Ensembl:ENST00000291823) - c.1729G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99396537 | 578 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000019.10:g.40379705C>A Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379705C>A Locations: - c.1733G>T (NCI-TCGA:ENST00000291823) - p.C578F (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079320526 | 578 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000019.10:g.40379706A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379706A>G Locations: - p.Cys578Arg (Ensembl:ENST00000291823) - c.1732T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079320470 | 579 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000019.10:g.40379702G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379702G>A Locations: - p.Thr579Ile (Ensembl:ENST00000291823) - c.1736C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs938642424 | 581 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000019.10:g.40379697C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379697C>T Locations: - p.Glu581Lys (Ensembl:ENST00000291823) - c.1741G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079320349 | 582 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000019.10:g.40379694T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379694T>A Locations: - p.Ser582Cys (Ensembl:ENST00000291823) - c.1744A>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079320349 | 582 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000019.10:g.40379694T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379694T>C Locations: - p.Ser582Gly (Ensembl:ENST00000291823) - c.1744A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs772842558 | 583 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.62) Somatic: No Accession: NC_000019.10:g.40379690A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379690A>G Locations: - p.Val583Ala (Ensembl:ENST00000291823) - c.1748T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs772842558 | 583 | V>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000019.10:g.40379690A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379690A>T Locations: - p.Val583Asp (Ensembl:ENST00000291823) - c.1748T>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs772842558 | 583 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000019.10:g.40379690A>C Codon: GTC/GGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379690A>C Locations: - p.Val583Gly (Ensembl:ENST00000291823) - c.1748T>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs199999966 | 583 | V>I | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.63) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000019.10:g.40379691C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379691C>T Locations: - p.Val583Ile (Ensembl:ENST00000291823) - c.1747G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1417789572 | 584 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000019.10:g.40379686C>G Codon: AGG/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379686C>G Locations: - p.Arg584Ser (Ensembl:ENST00000291823) - c.1752G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1488326660 | 585 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.419) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000019.10:g.40379685C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379685C>T Locations: - p.Gly585Ser (Ensembl:ENST00000291823) - c.1753G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1454406447 | 586 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000019.10:g.40379682G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379682G>T Locations: - p.Pro586Thr (Ensembl:ENST00000291823) - c.1756C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs953234208 | 587 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000019.10:g.40379678C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379678C>T Locations: - p.Arg587Gln (Ensembl:ENST00000291823) - c.1760G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs201051792 | 587 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.40379679G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379679G>A Locations: - p.Arg587Trp (Ensembl:ENST00000291823) - c.1759C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs2079319949 | 590 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.868) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000019.10:g.40379670C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379670C>T Locations: - p.Gly590Arg (Ensembl:ENST00000291823) - c.1768G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1191132665 | 590 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000019.10:g.40379669C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379669C>A Locations: - p.Gly590Val (Ensembl:ENST00000291823) - c.1769G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs74410183 | 591 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000019.10:g.40379666A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379666A>G Locations: - p.Leu591Pro (Ensembl:ENST00000291823) - c.1772T>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV99396781 | 593 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000019.10:g.40379660G>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379660G>T Locations: - c.1778C>A (NCI-TCGA:ENST00000291823) - p.P593H (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079319705 | 593 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000019.10:g.40379661G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379661G>A Locations: - p.Pro593Ser (Ensembl:ENST00000291823) - c.1777C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs746510886 | 594 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000019.10:g.40379658G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379658G>A Locations: - p.Arg594Cys (Ensembl:ENST00000291823) - c.1780C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1282146513 | 594 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000019.10:g.40379657C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379657C>T Locations: - p.Arg594His (Ensembl:ENST00000291823) - c.1781G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1282146513 | 594 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000019.10:g.40379657C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379657C>A Locations: - p.Arg594Leu (Ensembl:ENST00000291823) - c.1781G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs573152386 | 595 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000019.10:g.40379655G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379655G>A Locations: - p.Arg595Cys (Ensembl:ENST00000291823) - c.1783C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs754264360 | 595 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000019.10:g.40379654C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379654C>T Locations: - p.Arg595His (Ensembl:ENST00000291823) - c.1784G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs754264360 | 595 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000019.10:g.40379654C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379654C>A Locations: - p.Arg595Leu (Ensembl:ENST00000291823) - c.1784G>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs777937469 | 597 | H>D | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000019.10:g.40379649G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379649G>C Locations: - p.His597Asp (Ensembl:ENST00000291823) - c.1789C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs753032584 | 599 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000019.10:g.40379641A>T Codon: CAT/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379641A>T Locations: - p.His599Gln (Ensembl:ENST00000291823) - c.1797T>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1298872306 | 599 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.229) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000019.10:g.40379643G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379643G>A Locations: - p.His599Tyr (Ensembl:ENST00000291823) - c.1795C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs767836879 | 600 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000019.10:g.40379640C>G Codon: GGT/CGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379640C>G Locations: - p.Gly600Arg (Ensembl:ENST00000291823) - c.1798G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs751560528 | 603 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000019.10:g.40379631G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379631G>C Locations: - p.Arg603Gly (Ensembl:ENST00000291823) - c.1807C>G (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs766371069 | 603 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000019.10:g.40379630C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379630C>G Locations: - p.Arg603Pro (Ensembl:ENST00000291823) - c.1808G>C (Ensembl:ENST00000291823) Source type: large scale study | |||||||
COSV52526424 rs766371069 | 603 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0.01) - PolyPhen: possibly damaging (0.883) - SIFT: tolerated - low confidence (0.14) Somatic: No Population frequencies: - MAF: 0.00004343 (gnomAD) Accession: NC_000019.10:g.40379630C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379630C>T Locations: - p.R603Q (NCI-TCGA:ENST00000291823) - p.Arg603Gln (Ensembl:ENST00000291823) - c.1808G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs751560528 | 603 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.40379631G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379631G>A Locations: - p.Arg603Trp (Ensembl:ENST00000291823) - c.1807C>T (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs762749547 | 604 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000019.10:g.40379627C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379627C>T Locations: - p.Gly604Glu (Ensembl:ENST00000291823) - c.1811G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079319087 | 605 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000019.10:g.40379625C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379625C>T Locations: - p.Ala605Thr (Ensembl:ENST00000291823) - c.1813G>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs773073553 | 605 | A>V | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000019.10:g.40379624G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379624G>A Locations: - p.Ala605Val (Ensembl:ENST00000291823) - c.1814C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
TCGA novel | 609 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.40379613G>T Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379613G>T Locations: - c.1825C>A (NCI-TCGA:ENST00000291823) - p.L609I (NCI-TCGA:ENST00000291823) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1468494370 | 610 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.40379610G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379610G>A Locations: - p.Gln610Ter (Ensembl:ENST00000291823) - c.1828C>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079318986 | 610 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000019.10:g.40379608C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379608C>A Locations: - p.Gln610His (Ensembl:ENST00000291823) - c.1830G>T (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs2079318965 | 611 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000019.10:g.40379606T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379606T>C Locations: - p.His611Arg (Ensembl:ENST00000291823) - c.1832A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs926622496 | 613 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000019.10:g.40379600G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379600G>C Locations: - p.Thr613Ser (Ensembl:ENST00000291823) - c.1838C>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs374456621 | 614 | G>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.681) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.40379597C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379597C>T Locations: - p.Gly614Glu (Ensembl:ENST00000291823) - c.1841G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs761593862 | 614 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.816) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.40379598C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379598C>T Locations: - p.Gly614Arg (Ensembl:ENST00000291823) - c.1840G>A (Ensembl:ENST00000291823) Source type: large scale study | |||||||
rs1319000045 | 616 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000019.10:g.40379590G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379590G>T Locations: - p.His616Gln (Ensembl:ENST00000291823) - c.1848C>A (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs750661100 | 617 | *>S | ExAC | ||||
Consequence: stop lost Somatic: No Accession: NC_000019.10:g.40379590_40379615dup Codon: TTCCTCCAGCATGTCACCGGGCACCACTGA/TTCCTCCAGCATGTCACCGGGCACCACTCCTCCAGCATGTCACCGGGCACCACTGA Consequence type: stop lost Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379590_40379615dup Locations: - p.Ter617SerfsTer23 (Ensembl:ENST00000291823) - c.1849_1850insCCTCCAGCATGTCACCGGGCACCACT (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
rs1177232315 | 617 | *>S | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000019.10:g.40379588C>G Codon: TGA/TCA Consequence type: stop lost Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379588C>G Locations: - p.Ter617SerextTer2 (Ensembl:ENST00000291823) - c.1850G>C (Ensembl:ENST00000291823) Source type: large scale study Cross-references: | |||||||
COSV52519304 rs1379893490 | 617 | *>W | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: stop lost Somatic: No Accession: NC_000019.10:g.40379587T>C Codon: TGA/TGG Consequence type: stop lost Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.40379587T>C Locations: - p.*617Wext*2 (NCI-TCGA:ENST00000291823) - p.Ter617TrpextTer2 (Ensembl:ENST00000291823) - c.1851A>G (Ensembl:ENST00000291823) Source type: large scale study Cross-references: |