P02654 · APOC1_HUMAN
- ProteinApolipoprotein C-I
- GeneAPOC1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1256085495 | 2 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44914895A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914895A>G Locations: - p.Arg2Gly (Ensembl:ENST00000588750) - c.4A>G (Ensembl:ENST00000588750) - p.Arg2Gly (Ensembl:ENST00000588802) - c.4A>G (Ensembl:ENST00000588802) - p.Arg2Gly (Ensembl:ENST00000592535) - c.4A>G (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs145422421 | 3 | L>F | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.44914898C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914898C>T Locations: - p.Leu3Phe (Ensembl:ENST00000588750) - c.7C>T (Ensembl:ENST00000588750) - p.Leu3Phe (Ensembl:ENST00000588802) - c.7C>T (Ensembl:ENST00000588802) - p.Leu3Phe (Ensembl:ENST00000592535) - c.7C>T (Ensembl:ENST00000592535) Source type: large scale study | |||||||
rs145422421 | 3 | L>I | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000019.10:g.44914898C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914898C>A Locations: - p.Leu3Ile (Ensembl:ENST00000588750) - c.7C>A (Ensembl:ENST00000588750) - p.Leu3Ile (Ensembl:ENST00000588802) - c.7C>A (Ensembl:ENST00000588802) - p.Leu3Ile (Ensembl:ENST00000592535) - c.7C>A (Ensembl:ENST00000592535) Source type: large scale study | |||||||
rs1198753683 | 4 | F>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000019.10:g.44914901T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914901T>G Locations: - p.Phe4Val (Ensembl:ENST00000588750) - c.10T>G (Ensembl:ENST00000588750) - p.Phe4Val (Ensembl:ENST00000592535) - c.10T>G (Ensembl:ENST00000592535) - p.Phe4Val (Ensembl:ENST00000588802) - c.10T>G (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
COSV52991560 | 4 | F>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000019.10:g.44914902T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000019.10:g.44914902T>A Locations: - p.Phe4Tyr (cosmic curated:ENST00000588802) - c.11T>A (cosmic curated:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs147697738 | 5 | L>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44914905T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914905T>C Locations: - p.Leu5Pro (Ensembl:ENST00000592535) - c.14T>C (Ensembl:ENST00000592535) - p.Leu5Pro (Ensembl:ENST00000588802) - c.14T>C (Ensembl:ENST00000588802) - p.Leu5Pro (Ensembl:ENST00000588750) - c.14T>C (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs371532131 | 6 | S>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.44914908C>A Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914908C>A Locations: - p.Ser6Ter (Ensembl:ENST00000588802) - c.17C>A (Ensembl:ENST00000588802) - p.Ser6Ter (Ensembl:ENST00000592535) - c.17C>A (Ensembl:ENST00000592535) - p.Ser6Ter (Ensembl:ENST00000588750) - c.17C>A (Ensembl:ENST00000588750) Source type: large scale study | |||||||
rs371532131 | 6 | S>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.44914908C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914908C>T Locations: - p.Ser6Leu (Ensembl:ENST00000588802) - c.17C>T (Ensembl:ENST00000588802) - p.Ser6Leu (Ensembl:ENST00000588750) - c.17C>T (Ensembl:ENST00000588750) - p.Ser6Leu (Ensembl:ENST00000592535) - c.17C>T (Ensembl:ENST00000592535) Source type: large scale study | |||||||
rs1481009010 | 7 | L>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.44914910C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914910C>A Locations: - p.Leu7Ile (Ensembl:ENST00000592535) - c.19C>A (Ensembl:ENST00000592535) - p.Leu7Ile (Ensembl:ENST00000588750) - c.19C>A (Ensembl:ENST00000588750) - p.Leu7Ile (Ensembl:ENST00000588802) - c.19C>A (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
COSV52992400 | 8 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000019.10:g.44914914C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000019.10:g.44914914C>T Locations: - p.Pro8Leu (cosmic curated:ENST00000588802) - c.23C>T (cosmic curated:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs755094610 | 8 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44914914C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914914C>G Locations: - p.Pro8Arg (Ensembl:ENST00000588750) - c.23C>G (Ensembl:ENST00000588750) - p.Pro8Arg (Ensembl:ENST00000588802) - c.23C>G (Ensembl:ENST00000588802) - p.Pro8Arg (Ensembl:ENST00000592535) - c.23C>G (Ensembl:ENST00000592535) Source type: large scale study | |||||||
rs1969976441 | 8 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.44914913C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914913C>T Locations: - p.Pro8Ser (Ensembl:ENST00000588750) - c.22C>T (Ensembl:ENST00000588750) - p.Pro8Ser (Ensembl:ENST00000588802) - c.22C>T (Ensembl:ENST00000588802) - p.Pro8Ser (Ensembl:ENST00000592535) - c.22C>T (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs1301594402 | 9 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.44914916G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914916G>A Locations: - p.Val9Ile (Ensembl:ENST00000588802) - c.25G>A (Ensembl:ENST00000588802) - p.Val9Ile (Ensembl:ENST00000588750) - c.25G>A (Ensembl:ENST00000588750) - p.Val9Ile (Ensembl:ENST00000592535) - c.25G>A (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs142470704 | 10 | L>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44914920T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914920T>C Locations: - p.Leu10Pro (Ensembl:ENST00000592535) - c.29T>C (Ensembl:ENST00000592535) - p.Leu10Pro (Ensembl:ENST00000588802) - c.29T>C (Ensembl:ENST00000588802) - p.Leu10Pro (Ensembl:ENST00000588750) - c.29T>C (Ensembl:ENST00000588750) Source type: large scale study | |||||||
rs778905437 | 12 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.618) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.44914925G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914925G>A Locations: - p.Val12Met (Ensembl:ENST00000588750) - c.34G>A (Ensembl:ENST00000588750) - p.Val12Met (Ensembl:ENST00000588802) - c.34G>A (Ensembl:ENST00000588802) - p.Val12Met (Ensembl:ENST00000592535) - c.34G>A (Ensembl:ENST00000592535) Source type: large scale study | |||||||
rs1969976884 | 13 | V>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.496) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44914929T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914929T>A Locations: - p.Val13Asp (Ensembl:ENST00000592535) - c.38T>A (Ensembl:ENST00000592535) - p.Val13Asp (Ensembl:ENST00000588750) - c.38T>A (Ensembl:ENST00000588750) - p.Val13Asp (Ensembl:ENST00000588802) - c.38T>A (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs745648350 | 14 | L>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.44914932T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914932T>C Locations: - p.Leu14Pro (Ensembl:ENST00000592535) - c.41T>C (Ensembl:ENST00000592535) - p.Leu14Pro (Ensembl:ENST00000588750) - c.41T>C (Ensembl:ENST00000588750) - p.Leu14Pro (Ensembl:ENST00000588802) - c.41T>C (Ensembl:ENST00000588802) Source type: large scale study | |||||||
rs1053261927 | 15 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000019.10:g.44914934T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914934T>C Locations: - p.Ser15Pro (Ensembl:ENST00000588802) - c.43T>C (Ensembl:ENST00000588802) - p.Ser15Pro (Ensembl:ENST00000592535) - c.43T>C (Ensembl:ENST00000592535) - p.Ser15Pro (Ensembl:ENST00000588750) - c.43T>C (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
TCGA novel | 16 | I>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000019.10:g.44914937A>C Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914937A>C Locations: - c.46A>C (NCI-TCGA:ENST00000588750) - p.I16L (NCI-TCGA:ENST00000588750) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
VAR_014183 rs5112 | 16 | I>M | UniProt dbSNP | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: Locations: - p.Ile16Met (UniProt:P02654) Source type: uniprot Cross-references: | |||||||
COSV52991370 rs72654453 | 16 | I>M | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000019.10:g.44914939C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914939C>G Locations: - p.Ile16Met (Ensembl:ENST00000588802) - c.48C>G (Ensembl:ENST00000588802) - p.Ile16Met (Ensembl:ENST00000592535) - c.48C>G (Ensembl:ENST00000592535) - p.Ile16Met (Ensembl:ENST00000588750) - c.48C>G (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs1969977196 | 17 | V>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.496) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44914941T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914941T>A Locations: - p.Val17Asp (Ensembl:ENST00000592535) - c.50T>A (Ensembl:ENST00000592535) - p.Val17Asp (Ensembl:ENST00000588802) - c.50T>A (Ensembl:ENST00000588802) - p.Val17Asp (Ensembl:ENST00000588750) - c.50T>A (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs1969977308 | 18 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.44914945G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914945G>C Locations: - p.Leu18Phe (Ensembl:ENST00000588750) - c.54G>C (Ensembl:ENST00000588750) - p.Leu18Phe (Ensembl:ENST00000592535) - c.54G>C (Ensembl:ENST00000592535) - p.Leu18Phe (Ensembl:ENST00000588802) - c.54G>C (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs780144474 | 18 | L>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.44914944T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914944T>C Locations: - p.Leu18Ser (Ensembl:ENST00000588750) - c.53T>C (Ensembl:ENST00000588750) - p.Leu18Ser (Ensembl:ENST00000592535) - c.53T>C (Ensembl:ENST00000592535) - p.Leu18Ser (Ensembl:ENST00000588802) - c.53T>C (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs1969977371 | 19 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.44914946G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44914946G>T Locations: - p.Glu19Ter (Ensembl:ENST00000592535) - c.55G>T (Ensembl:ENST00000592535) - p.Glu19Ter (Ensembl:ENST00000588802) - c.55G>T (Ensembl:ENST00000588802) - p.Glu19Ter (Ensembl:ENST00000588750) - c.55G>T (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs1970003814 | 21 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.44916192C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916192C>G Locations: - p.Pro21Ala (Ensembl:ENST00000588802) - c.61C>G (Ensembl:ENST00000588802) - p.Pro21Ala (Ensembl:ENST00000588750) - c.61C>G (Ensembl:ENST00000588750) - p.Pro21Ala (Ensembl:ENST00000592535) - c.61C>G (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs964053456 | 21 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.44916193C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916193C>T Locations: - p.Pro21Leu (Ensembl:ENST00000588802) - c.62C>T (Ensembl:ENST00000588802) - p.Pro21Leu (Ensembl:ENST00000592535) - c.62C>T (Ensembl:ENST00000592535) - p.Pro21Leu (Ensembl:ENST00000588750) - c.62C>T (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs776823160 | 22 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000019.10:g.44916196C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916196C>A Locations: - p.Ala22Asp (Ensembl:ENST00000588750) - c.65C>A (Ensembl:ENST00000588750) - p.Ala22Asp (Ensembl:ENST00000592535) - c.65C>A (Ensembl:ENST00000592535) - p.Ala22Asp (Ensembl:ENST00000588802) - c.65C>A (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs764303170 | 22 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.44916195G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916195G>A Locations: - p.Ala22Thr (Ensembl:ENST00000588802) - c.64G>A (Ensembl:ENST00000588802) - p.Ala22Thr (Ensembl:ENST00000588750) - c.64G>A (Ensembl:ENST00000588750) - p.Ala22Thr (Ensembl:ENST00000592535) - c.64G>A (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs776823160 | 22 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.44916196C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916196C>T Locations: - p.Ala22Val (Ensembl:ENST00000588750) - c.65C>T (Ensembl:ENST00000588750) - p.Ala22Val (Ensembl:ENST00000592535) - c.65C>T (Ensembl:ENST00000592535) - p.Ala22Val (Ensembl:ENST00000588802) - c.65C>T (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
COSV52991743 | 24 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000019.10:g.44916201G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000019.10:g.44916201G>A Locations: - p.Ala24Thr (cosmic curated:ENST00000588802) - c.70G>A (cosmic curated:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs762182284 | 25 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.44916204C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916204C>T Locations: - p.Gln25Ter (Ensembl:ENST00000592535) - c.73C>T (Ensembl:ENST00000592535) - p.Gln25Ter (Ensembl:ENST00000588750) - c.73C>T (Ensembl:ENST00000588750) - p.Gln25Ter (Ensembl:ENST00000588802) - c.73C>T (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
COSV105006007 | 26 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000019.10:g.44916208G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000019.10:g.44916208G>A Locations: - p.Gly26Glu (cosmic curated:ENST00000588802) - c.77G>A (cosmic curated:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs767290955 | 28 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.44916214C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916214C>T Locations: - p.Pro28Leu (Ensembl:ENST00000592535) - c.83C>T (Ensembl:ENST00000592535) - p.Pro28Leu (Ensembl:ENST00000588802) - c.83C>T (Ensembl:ENST00000588802) - p.Pro28Leu (Ensembl:ENST00000588750) - c.83C>T (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
COSV99377219 | 28 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000019.10:g.44916213C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000019.10:g.44916213C>A Locations: - p.Pro28Thr (cosmic curated:ENST00000588802) - c.82C>A (cosmic curated:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs1222992750 | 29 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.44916218C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916218C>G Locations: - p.Asp29Glu (Ensembl:ENST00000588750) - c.87C>G (Ensembl:ENST00000588750) - p.Asp29Glu (Ensembl:ENST00000592535) - c.87C>G (Ensembl:ENST00000592535) - p.Asp29Glu (Ensembl:ENST00000588802) - c.87C>G (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs1223062480 | 29 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44916217A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916217A>G Locations: - p.Asp29Gly (Ensembl:ENST00000588750) - c.86A>G (Ensembl:ENST00000588750) - p.Asp29Gly (Ensembl:ENST00000588802) - c.86A>G (Ensembl:ENST00000588802) - p.Asp29Gly (Ensembl:ENST00000592535) - c.86A>G (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
COSV99077559 rs72654455 | 30 | V>I | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000019.10:g.44916219G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916219G>A Locations: - p.Val30Ile (Ensembl:ENST00000588750) - c.88G>A (Ensembl:ENST00000588750) - p.Val30Ile (Ensembl:ENST00000592535) - c.88G>A (Ensembl:ENST00000592535) - p.Val30Ile (Ensembl:ENST00000588802) - c.88G>A (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs72654455 | 30 | V>L | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000019.10:g.44916219G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916219G>C Locations: - p.Val30Leu (Ensembl:ENST00000588802) - c.88G>C (Ensembl:ENST00000588802) - p.Val30Leu (Ensembl:ENST00000588750) - c.88G>C (Ensembl:ENST00000588750) - p.Val30Leu (Ensembl:ENST00000592535) - c.88G>C (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs1970005058 | 32 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.44916225A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916225A>G Locations: - p.Ser32Gly (Ensembl:ENST00000588802) - c.94A>G (Ensembl:ENST00000588802) - p.Ser32Gly (Ensembl:ENST00000588750) - c.94A>G (Ensembl:ENST00000588750) - p.Ser32Gly (Ensembl:ENST00000592535) - c.94A>G (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs1970005110 | 32 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.528) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.44916226G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916226G>A Locations: - p.Ser32Asn (Ensembl:ENST00000592535) - c.95G>A (Ensembl:ENST00000592535) - p.Ser32Asn (Ensembl:ENST00000588802) - c.95G>A (Ensembl:ENST00000588802) - p.Ser32Asn (Ensembl:ENST00000588750) - c.95G>A (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs764125385 | 33 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000019.10:g.44916229C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916229C>G Locations: - p.Ala33Gly (Ensembl:ENST00000592535) - c.98C>G (Ensembl:ENST00000592535) - p.Ala33Gly (Ensembl:ENST00000588802) - c.98C>G (Ensembl:ENST00000588802) - p.Ala33Gly (Ensembl:ENST00000588750) - c.98C>G (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs868060355 | 33 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000019.10:g.44916228G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916228G>C Locations: - p.Ala33Pro (Ensembl:ENST00000588750) - c.97G>C (Ensembl:ENST00000588750) - p.Ala33Pro (Ensembl:ENST00000592535) - c.97G>C (Ensembl:ENST00000592535) - p.Ala33Pro (Ensembl:ENST00000588802) - c.97G>C (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs868060355 | 33 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000019.10:g.44916228G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916228G>T Locations: - p.Ala33Ser (Ensembl:ENST00000588750) - c.97G>T (Ensembl:ENST00000588750) - p.Ala33Ser (Ensembl:ENST00000592535) - c.97G>T (Ensembl:ENST00000592535) - p.Ala33Ser (Ensembl:ENST00000588802) - c.97G>T (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs764125385 | 33 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000019.10:g.44916229C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916229C>T Locations: - p.Ala33Val (Ensembl:ENST00000592535) - c.98C>T (Ensembl:ENST00000592535) - p.Ala33Val (Ensembl:ENST00000588750) - c.98C>T (Ensembl:ENST00000588750) - p.Ala33Val (Ensembl:ENST00000588802) - c.98C>T (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs753335188 | 34 | L>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.44916232T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916232T>C Locations: - p.Leu34Ser (Ensembl:ENST00000592535) - c.101T>C (Ensembl:ENST00000592535) - p.Leu34Ser (Ensembl:ENST00000588802) - c.101T>C (Ensembl:ENST00000588802) - p.Leu34Ser (Ensembl:ENST00000588750) - c.101T>C (Ensembl:ENST00000588750) Source type: large scale study | |||||||
rs756974870 | 35 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.44916235A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916235A>G Locations: - p.Asp35Gly (Ensembl:ENST00000588802) - c.104A>G (Ensembl:ENST00000588802) - p.Asp35Gly (Ensembl:ENST00000588750) - c.104A>G (Ensembl:ENST00000588750) - p.Asp35Gly (Ensembl:ENST00000592535) - c.104A>G (Ensembl:ENST00000592535) Source type: large scale study | |||||||
COSV52992158 rs1970005433 | 35 | D>H | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.394) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000019.10:g.44916234G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916234G>C Locations: - p.Asp35His (Ensembl:ENST00000592535) - c.103G>C (Ensembl:ENST00000592535) - p.Asp35His (Ensembl:ENST00000588750) - c.103G>C (Ensembl:ENST00000588750) - p.Asp35His (Ensembl:ENST00000588802) - c.103G>C (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs930127140 | 37 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44916241T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916241T>G Locations: - p.Leu37Arg (Ensembl:ENST00000592535) - c.110T>G (Ensembl:ENST00000592535) - p.Leu37Arg (Ensembl:ENST00000588802) - c.110T>G (Ensembl:ENST00000588802) - p.Leu37Arg (Ensembl:ENST00000588750) - c.110T>G (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs751007321 | 38 | K>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.44916235_44916241dup Codon: GATAAGCTG/GATAAGCTATAAGCTG Consequence type: stop gained Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916235_44916241dup Locations: - p.Lys38Ter (Ensembl:ENST00000588750) - c.104_110dup (Ensembl:ENST00000588750) - p.Lys38Ter (Ensembl:ENST00000588802) - c.104_110dup (Ensembl:ENST00000588802) - p.Lys38Ter (Ensembl:ENST00000592535) - c.104_110dup (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
COSV99377172 rs778438750 | 38 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: tolerated (0.1) - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.14) Somatic: Yes Population frequencies: - MAF: 0.000007958 (gnomAD) Accession: NC_000019.10:g.44916243A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916243A>G Locations: - p.K38E (NCI-TCGA:ENST00000588750) - p.K38E (NCI-TCGA:ENST00000588802) - p.K38E (NCI-TCGA:ENST00000592535) - p.Lys38Glu (Ensembl:ENST00000592535) - c.112A>G (Ensembl:ENST00000592535) - p.Lys38Glu (Ensembl:ENST00000588802) - c.112A>G (Ensembl:ENST00000588802) - p.Lys38Glu (Ensembl:ENST00000588750) - c.112A>G (Ensembl:ENST00000588750) Source type: large scale study | |||||||
COSV99377246 | 38 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.44916245G>T Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916245G>T Locations: - c.114G>T (NCI-TCGA:ENST00000588750) - p.K38N (NCI-TCGA:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs778438750 | 38 | K>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.44916243A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916243A>C Locations: - p.Lys38Gln (Ensembl:ENST00000592535) - c.112A>C (Ensembl:ENST00000592535) - p.Lys38Gln (Ensembl:ENST00000588802) - c.112A>C (Ensembl:ENST00000588802) - p.Lys38Gln (Ensembl:ENST00000588750) - c.112A>C (Ensembl:ENST00000588750) Source type: large scale study | |||||||
COSV99377242 | 38 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000019.10:g.44916244A>G Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916244A>G Locations: - c.113A>G (NCI-TCGA:ENST00000588750) - p.K38R (NCI-TCGA:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs772346849 | 39 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.533) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.44916248G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916248G>C Locations: - p.Glu39Asp (Ensembl:ENST00000592535) - c.117G>C (Ensembl:ENST00000592535) - p.Glu39Asp (Ensembl:ENST00000588802) - c.117G>C (Ensembl:ENST00000588802) - p.Glu39Asp (Ensembl:ENST00000588750) - c.117G>C (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs1599960298 | 40 | F>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.44916249T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916249T>G Locations: - p.Phe40Val (Ensembl:ENST00000588750) - c.118T>G (Ensembl:ENST00000588750) - p.Phe40Val (Ensembl:ENST00000592535) - c.118T>G (Ensembl:ENST00000592535) - p.Phe40Val (Ensembl:ENST00000588802) - c.118T>G (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs1970006022 | 41 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44916252G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916252G>A Locations: - p.Gly41Arg (Ensembl:ENST00000588750) - c.121G>A (Ensembl:ENST00000588750) - p.Gly41Arg (Ensembl:ENST00000588802) - c.121G>A (Ensembl:ENST00000588802) - p.Gly41Arg (Ensembl:ENST00000592535) - c.121G>A (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs1047670169 | 42 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000019.10:g.44916257C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916257C>G Locations: - p.Asn42Lys (Ensembl:ENST00000592535) - c.126C>G (Ensembl:ENST00000592535) - p.Asn42Lys (Ensembl:ENST00000588750) - c.126C>G (Ensembl:ENST00000588750) - p.Asn42Lys (Ensembl:ENST00000588802) - c.126C>G (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
COSV104578153 rs1970006195 | 43 | T>I | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.44916259C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916259C>T Locations: - p.Thr43Ile (Ensembl:ENST00000588750) - c.128C>T (Ensembl:ENST00000588750) - p.Thr43Ile (Ensembl:ENST00000588802) - c.128C>T (Ensembl:ENST00000588802) - p.Thr43Ile (Ensembl:ENST00000592535) - c.128C>T (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
COSV107256906 | 44 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000019.10:g.44916261C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000019.10:g.44916261C>A Locations: - p.Leu44Met (cosmic curated:ENST00000588802) - c.130C>A (cosmic curated:ENST00000588802) Source type: large scale study Cross-references: | |||||||
COSV52991613 rs774366946 | 44 | L>P | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000019.10:g.44916262T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916262T>C Locations: - p.Leu44Pro (Ensembl:ENST00000588802) - c.131T>C (Ensembl:ENST00000588802) - p.Leu44Pro (Ensembl:ENST00000588750) - c.131T>C (Ensembl:ENST00000588750) - p.Leu44Pro (Ensembl:ENST00000592535) - c.131T>C (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs769271150 | 44 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000019.10:g.44916261C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916261C>G Locations: - p.Leu44Val (Ensembl:ENST00000588802) - c.130C>G (Ensembl:ENST00000588802) - p.Leu44Val (Ensembl:ENST00000588750) - c.130C>G (Ensembl:ENST00000588750) - p.Leu44Val (Ensembl:ENST00000592535) - c.130C>G (Ensembl:ENST00000592535) Source type: large scale study | |||||||
rs1340927554 | 46 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000019.10:g.44916269C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916269C>G Locations: - p.Asp46Glu (Ensembl:ENST00000588750) - c.138C>G (Ensembl:ENST00000588750) - p.Asp46Glu (Ensembl:ENST00000588802) - c.138C>G (Ensembl:ENST00000588802) - p.Asp46Glu (Ensembl:ENST00000592535) - c.138C>G (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs375197804 | 46 | D>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000019.10:g.44916267G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916267G>A Locations: - p.Asp46Asn (Ensembl:ENST00000588802) - c.136G>A (Ensembl:ENST00000588802) - p.Asp46Asn (Ensembl:ENST00000588750) - c.136G>A (Ensembl:ENST00000588750) - p.Asp46Asn (Ensembl:ENST00000592535) - c.136G>A (Ensembl:ENST00000592535) Source type: large scale study | |||||||
rs143606600 | 47 | K>R | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.44916271A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916271A>G Locations: - p.Lys47Arg (Ensembl:ENST00000588750) - c.140A>G (Ensembl:ENST00000588750) - p.Lys47Arg (Ensembl:ENST00000588802) - c.140A>G (Ensembl:ENST00000588802) - p.Lys47Arg (Ensembl:ENST00000592535) - c.140A>G (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs769853852 | 48 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.44916273G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916273G>T Locations: - p.Ala48Ser (Ensembl:ENST00000592535) - c.142G>T (Ensembl:ENST00000592535) - p.Ala48Ser (Ensembl:ENST00000588802) - c.142G>T (Ensembl:ENST00000588802) - p.Ala48Ser (Ensembl:ENST00000588750) - c.142G>T (Ensembl:ENST00000588750) Source type: large scale study | |||||||
COSV52991401 rs769853852 | 48 | A>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated (0.7) Somatic: Yes Accession: NC_000019.10:g.44916273G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916273G>A Locations: - p.Ala48Thr (Ensembl:ENST00000588750) - c.142G>A (Ensembl:ENST00000588750) - p.Ala48Thr (Ensembl:ENST00000592535) - c.142G>A (Ensembl:ENST00000592535) - p.Ala48Thr (Ensembl:ENST00000588802) - c.142G>A (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs773324927 | 49 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.44916276C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916276C>G Locations: - p.Arg49Gly (Ensembl:ENST00000592535) - c.145C>G (Ensembl:ENST00000592535) - p.Arg49Gly (Ensembl:ENST00000588802) - c.145C>G (Ensembl:ENST00000588802) - p.Arg49Gly (Ensembl:ENST00000588750) - c.145C>G (Ensembl:ENST00000588750) Source type: large scale study | |||||||
rs763192111 | 49 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.44916277G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916277G>A Locations: - p.Arg49Gln (Ensembl:ENST00000592535) - c.146G>A (Ensembl:ENST00000592535) - p.Arg49Gln (Ensembl:ENST00000588750) - c.146G>A (Ensembl:ENST00000588750) - p.Arg49Gln (Ensembl:ENST00000588802) - c.146G>A (Ensembl:ENST00000588802) Source type: large scale study | |||||||
COSV52992438 rs773324927 | 49 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.02) - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: Yes Population frequencies: - MAF: 0.000007955 (gnomAD) Accession: NC_000019.10:g.44916276C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916276C>T Locations: - p.R49W (NCI-TCGA:ENST00000588750) - p.R49W (NCI-TCGA:ENST00000588802) - p.R49W (NCI-TCGA:ENST00000592535) - p.Arg49Trp (Ensembl:ENST00000592535) - c.145C>T (Ensembl:ENST00000592535) - p.Arg49Trp (Ensembl:ENST00000588802) - c.145C>T (Ensembl:ENST00000588802) - p.Arg49Trp (Ensembl:ENST00000588750) - c.145C>T (Ensembl:ENST00000588750) Source type: large scale study | |||||||
rs752512437 | 50 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000019.10:g.44916279G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916279G>A Locations: - p.Glu50Lys (Ensembl:ENST00000588750) - c.148G>A (Ensembl:ENST00000588750) - p.Glu50Lys (Ensembl:ENST00000588802) - c.148G>A (Ensembl:ENST00000588802) - p.Glu50Lys (Ensembl:ENST00000592535) - c.148G>A (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs1204261079 | 51 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.44916283T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916283T>C Locations: - p.Leu51Pro (Ensembl:ENST00000592535) - c.152T>C (Ensembl:ENST00000592535) - p.Leu51Pro (Ensembl:ENST00000588802) - c.152T>C (Ensembl:ENST00000588802) - p.Leu51Pro (Ensembl:ENST00000588750) - c.152T>C (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
COSV99377230 rs760666016 | 52 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.546) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.648) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000019.10:g.44916287C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916287C>G Locations: - p.I52M (NCI-TCGA:ENST00000588750) - p.I52M (NCI-TCGA:ENST00000588802) - p.I52M (NCI-TCGA:ENST00000592535) - p.Ile52Met (Ensembl:ENST00000588750) - c.156C>G (Ensembl:ENST00000588750) - p.Ile52Met (Ensembl:ENST00000588802) - c.156C>G (Ensembl:ENST00000588802) - p.Ile52Met (Ensembl:ENST00000592535) - c.156C>G (Ensembl:ENST00000592535) Source type: large scale study | |||||||
rs963586206 | 53 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44916288A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916288A>T Locations: - p.Ser53Cys (Ensembl:ENST00000588802) - c.157A>T (Ensembl:ENST00000588802) - p.Ser53Cys (Ensembl:ENST00000592535) - c.157A>T (Ensembl:ENST00000592535) - p.Ser53Cys (Ensembl:ENST00000588750) - c.157A>T (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs1037466950 | 54 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.44916291C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916291C>T Locations: - p.Arg54Cys (Ensembl:ENST00000588802) - c.160C>T (Ensembl:ENST00000588802) - p.Arg54Cys (Ensembl:ENST00000588750) - c.160C>T (Ensembl:ENST00000588750) - p.Arg54Cys (Ensembl:ENST00000592535) - c.160C>T (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs1037466950 | 54 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.426) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000019.10:g.44916291C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916291C>G Locations: - p.Arg54Gly (Ensembl:ENST00000588802) - c.160C>G (Ensembl:ENST00000588802) - p.Arg54Gly (Ensembl:ENST00000588750) - c.160C>G (Ensembl:ENST00000588750) - p.Arg54Gly (Ensembl:ENST00000592535) - c.160C>G (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
COSV52991492 rs369438021 | 54 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.63) - PolyPhen: possibly damaging (0.809) - SIFT: tolerated (0.98) Somatic: Yes Population frequencies: - MAF: 0.00001592 (gnomAD) Accession: NC_000019.10:g.44916292G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916292G>A Locations: - p.R54H (NCI-TCGA:ENST00000588750) - p.R54H (NCI-TCGA:ENST00000588802) - p.R54H (NCI-TCGA:ENST00000592535) - p.Arg54His (Ensembl:ENST00000592535) - c.161G>A (Ensembl:ENST00000592535) - p.Arg54His (Ensembl:ENST00000588802) - c.161G>A (Ensembl:ENST00000588802) - p.Arg54His (Ensembl:ENST00000588750) - c.161G>A (Ensembl:ENST00000588750) Source type: large scale study | |||||||
rs369438021 | 54 | R>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.648) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.44916292G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916292G>C Locations: - p.Arg54Pro (Ensembl:ENST00000588802) - c.161G>C (Ensembl:ENST00000588802) - p.Arg54Pro (Ensembl:ENST00000592535) - c.161G>C (Ensembl:ENST00000592535) - p.Arg54Pro (Ensembl:ENST00000588750) - c.161G>C (Ensembl:ENST00000588750) Source type: large scale study | |||||||
rs1037466950 | 54 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000019.10:g.44916291C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916291C>A Locations: - p.Arg54Ser (Ensembl:ENST00000588802) - c.160C>A (Ensembl:ENST00000588802) - p.Arg54Ser (Ensembl:ENST00000588750) - c.160C>A (Ensembl:ENST00000588750) - p.Arg54Ser (Ensembl:ENST00000592535) - c.160C>A (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
COSV52991576 | 55 | I>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000019.10:g.44916296C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000019.10:g.44916296C>G Locations: - p.Ile55Met (cosmic curated:ENST00000588802) - c.165C>G (cosmic curated:ENST00000588802) Source type: large scale study Cross-references: | |||||||
COSV107256910 | 55 | I>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000019.10:g.44916294A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000019.10:g.44916294A>G Locations: - p.Ile55Val (cosmic curated:ENST00000588802) - c.163A>G (cosmic curated:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs756776924 | 56 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.44916297A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916297A>G Locations: - p.Lys56Glu (Ensembl:ENST00000592535) - c.166A>G (Ensembl:ENST00000592535) - p.Lys56Glu (Ensembl:ENST00000588750) - c.166A>G (Ensembl:ENST00000588750) - p.Lys56Glu (Ensembl:ENST00000588802) - c.166A>G (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs72654456 | 56 | K>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.44916298A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916298A>G Locations: - p.Lys56Arg (Ensembl:ENST00000588750) - c.167A>G (Ensembl:ENST00000588750) - p.Lys56Arg (Ensembl:ENST00000588802) - c.167A>G (Ensembl:ENST00000588802) - p.Lys56Arg (Ensembl:ENST00000592535) - c.167A>G (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs750075412 | 57 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.44916300C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916300C>T Locations: - p.Gln57Ter (Ensembl:ENST00000588750) - c.169C>T (Ensembl:ENST00000588750) - p.Gln57Ter (Ensembl:ENST00000592535) - c.169C>T (Ensembl:ENST00000592535) - p.Gln57Ter (Ensembl:ENST00000588802) - c.169C>T (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs1970007753 | 57 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.533) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000019.10:g.44916302G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916302G>C Locations: - p.Gln57His (Ensembl:ENST00000588802) - c.171G>C (Ensembl:ENST00000588802) - p.Gln57His (Ensembl:ENST00000592535) - c.171G>C (Ensembl:ENST00000592535) - p.Gln57His (Ensembl:ENST00000588750) - c.171G>C (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs2122158956 | 58 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.528) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.44916304G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916304G>A Locations: - p.Ser58Asn (Ensembl:ENST00000588750) - c.173G>A (Ensembl:ENST00000588750) - p.Ser58Asn (Ensembl:ENST00000588802) - c.173G>A (Ensembl:ENST00000588802) - p.Ser58Asn (Ensembl:ENST00000592535) - c.173G>A (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs2122158967 | 59 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.44916306G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916306G>A Locations: - p.Glu59Lys (Ensembl:ENST00000588802) - c.175G>A (Ensembl:ENST00000588802) - p.Glu59Lys (Ensembl:ENST00000592535) - c.175G>A (Ensembl:ENST00000592535) - p.Glu59Lys (Ensembl:ENST00000588750) - c.175G>A (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
COSV107256908 rs1158302449 | 60 | L>I | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000019.10:g.44916309C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916309C>A Locations: - p.Leu60Ile (Ensembl:ENST00000588750) - c.178C>A (Ensembl:ENST00000588750) - p.Leu60Ile (Ensembl:ENST00000592535) - c.178C>A (Ensembl:ENST00000592535) - p.Leu60Ile (Ensembl:ENST00000588802) - c.178C>A (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs1056943467 | 61 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.44916313C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916313C>T Locations: - p.Ser61Phe (Ensembl:ENST00000588750) - c.182C>T (Ensembl:ENST00000588750) - p.Ser61Phe (Ensembl:ENST00000588802) - c.182C>T (Ensembl:ENST00000588802) - p.Ser61Phe (Ensembl:ENST00000592535) - c.182C>T (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs1056943467 | 61 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.44916313C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916313C>A Locations: - p.Ser61Tyr (Ensembl:ENST00000588750) - c.182C>A (Ensembl:ENST00000588750) - p.Ser61Tyr (Ensembl:ENST00000588802) - c.182C>A (Ensembl:ENST00000588802) - p.Ser61Tyr (Ensembl:ENST00000592535) - c.182C>A (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs1970007998 | 63 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.44916319A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916319A>G Locations: - p.Lys63Arg (Ensembl:ENST00000592535) - c.188A>G (Ensembl:ENST00000592535) - p.Lys63Arg (Ensembl:ENST00000588750) - c.188A>G (Ensembl:ENST00000588750) - p.Lys63Arg (Ensembl:ENST00000588802) - c.188A>G (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs758039374 | 64 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44916321A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916321A>G Locations: - p.Met64Val (Ensembl:ENST00000592535) - c.190A>G (Ensembl:ENST00000592535) - p.Met64Val (Ensembl:ENST00000588750) - c.190A>G (Ensembl:ENST00000588750) - p.Met64Val (Ensembl:ENST00000588802) - c.190A>G (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
COSV52992321 | 65 | R>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000019.10:g.44919173G>T Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919173G>T Locations: - c.195G>T (NCI-TCGA:ENST00000588750) - p.R65= (NCI-TCGA:ENST00000588750) Source type: large scale study Cross-references: | |||||||
COSV99377216 rs531411684 | 65 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.426) - SIFT: deleterious (0.02) - PolyPhen: possibly damaging (0.689) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.44916325G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916325G>T Locations: - p.R65L (NCI-TCGA:ENST00000588750) - p.R65L (NCI-TCGA:ENST00000588802) - p.R65L (NCI-TCGA:ENST00000592535) - p.Arg65Leu (Ensembl:ENST00000592535) - c.194G>T (Ensembl:ENST00000592535) - p.Arg65Leu (Ensembl:ENST00000588802) - c.194G>T (Ensembl:ENST00000588802) - p.Arg65Leu (Ensembl:ENST00000588750) - c.194G>T (Ensembl:ENST00000588750) Source type: large scale study | |||||||
rs531411684 | 65 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.44916325G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916325G>A Locations: - p.Arg65Gln (Ensembl:ENST00000592535) - c.194G>A (Ensembl:ENST00000592535) - p.Arg65Gln (Ensembl:ENST00000588802) - c.194G>A (Ensembl:ENST00000588802) - p.Arg65Gln (Ensembl:ENST00000588750) - c.194G>A (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs780332997 | 65 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.44916324C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44916324C>T Locations: - p.Arg65Trp (Ensembl:ENST00000592535) - c.193C>T (Ensembl:ENST00000592535) - p.Arg65Trp (Ensembl:ENST00000588802) - c.193C>T (Ensembl:ENST00000588802) - p.Arg65Trp (Ensembl:ENST00000588750) - c.193C>T (Ensembl:ENST00000588750) Source type: large scale study | |||||||
rs545479140 | 66 | E>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.44919176G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919176G>T Locations: - p.Glu66Asp (Ensembl:ENST00000592535) - c.198G>T (Ensembl:ENST00000592535) - p.Glu66Asp (Ensembl:ENST00000588750) - c.198G>T (Ensembl:ENST00000588750) - p.Glu66Asp (Ensembl:ENST00000588802) - c.198G>T (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
COSV52992225 | 66 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000019.10:g.44919174G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000019.10:g.44919174G>A Locations: - p.Glu66Lys (cosmic curated:ENST00000588802) - c.196G>A (cosmic curated:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs772260679 | 66 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.44919174G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919174G>C Locations: - p.Glu66Gln (Ensembl:ENST00000588750) - c.196G>C (Ensembl:ENST00000588750) - p.Glu66Gln (Ensembl:ENST00000592535) - c.196G>C (Ensembl:ENST00000592535) - p.Glu66Gln (Ensembl:ENST00000588802) - c.196G>C (Ensembl:ENST00000588802) Source type: large scale study | |||||||
TCGA novel rs1970058835 | 67 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | |||
Consequence: missense Somatic: No Accession: NC_000019.10:g.44919179G>A Codon: TGG/TGA Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919179G>A Locations: - p.W67* (NCI-TCGA:ENST00000588750) - p.W67* (NCI-TCGA:ENST00000588802) - p.W67* (NCI-TCGA:ENST00000592535) - p.Trp67Ter (Ensembl:ENST00000592535) - c.201G>A (Ensembl:ENST00000592535) - p.Trp67Ter (Ensembl:ENST00000588750) - c.201G>A (Ensembl:ENST00000588750) - p.Trp67Ter (Ensembl:ENST00000588802) - c.201G>A (Ensembl:ENST00000588802) Source type: large scale study | |||||||
rs995139107 | 67 | W>* | gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000019.10:g.44919178G>A Codon: TGG/TAG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919178G>A Locations: - p.Trp67Ter (Ensembl:ENST00000592535) - c.200G>A (Ensembl:ENST00000592535) - p.Trp67Ter (Ensembl:ENST00000588750) - c.200G>A (Ensembl:ENST00000588750) - p.Trp67Ter (Ensembl:ENST00000588802) - c.200G>A (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs1970058728 | 67 | W>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.44919177T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919177T>G Locations: - p.Trp67Gly (Ensembl:ENST00000588750) - c.199T>G (Ensembl:ENST00000588750) - p.Trp67Gly (Ensembl:ENST00000592535) - c.199T>G (Ensembl:ENST00000592535) - p.Trp67Gly (Ensembl:ENST00000588802) - c.199T>G (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs1970058889 | 68 | F>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44919181T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919181T>A Locations: - p.Phe68Tyr (Ensembl:ENST00000588750) - c.203T>A (Ensembl:ENST00000588750) - p.Phe68Tyr (Ensembl:ENST00000588802) - c.203T>A (Ensembl:ENST00000588802) - p.Phe68Tyr (Ensembl:ENST00000592535) - c.203T>A (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
COSV52991462 rs1242654325 | 69 | S>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000019.10:g.44919184C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919184C>T Locations: - p.Ser69Leu (Ensembl:ENST00000592535) - c.206C>T (Ensembl:ENST00000592535) - p.Ser69Leu (Ensembl:ENST00000588750) - c.206C>T (Ensembl:ENST00000588750) - p.Ser69Leu (Ensembl:ENST00000588802) - c.206C>T (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
COSV52991437 | 69 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.44919183T>C Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919183T>C Locations: - c.205T>C (NCI-TCGA:ENST00000588750) - p.S69P (NCI-TCGA:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs1419388205 | 71 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.44919190C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919190C>G Locations: - p.Thr71Arg (Ensembl:ENST00000592535) - c.212C>G (Ensembl:ENST00000592535) - p.Thr71Arg (Ensembl:ENST00000588750) - c.212C>G (Ensembl:ENST00000588750) - p.Thr71Arg (Ensembl:ENST00000588802) - c.212C>G (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
VAR_029011 rs142372275 | 71 | T>S | more susceptible to N-terminal truncation and shows greater distribution to the VLDL than the protein with T-71 (UniProt) | Benign (UniProt) | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000019.10:g.44919189A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919189A>T Locations: - p.Thr71Ser (UniProt:P02654) Source type: mixed | |||||||
rs1970059317 | 72 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.44919193T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919193T>C Locations: - p.Phe72Ser (Ensembl:ENST00000588802) - c.215T>C (Ensembl:ENST00000588802) - p.Phe72Ser (Ensembl:ENST00000592535) - c.215T>C (Ensembl:ENST00000592535) - p.Phe72Ser (Ensembl:ENST00000588750) - c.215T>C (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs769415929 | 72 | F>V | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.44919192T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919192T>G Locations: - p.Phe72Val (Ensembl:ENST00000588802) - c.214T>G (Ensembl:ENST00000588802) - p.Phe72Val (Ensembl:ENST00000592535) - c.214T>G (Ensembl:ENST00000592535) - p.Phe72Val (Ensembl:ENST00000588750) - c.214T>G (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs1970059384 | 73 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000019.10:g.44919196A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919196A>G Locations: - p.Gln73Arg (Ensembl:ENST00000588750) - c.218A>G (Ensembl:ENST00000588750) - p.Gln73Arg (Ensembl:ENST00000592535) - c.218A>G (Ensembl:ENST00000592535) - p.Gln73Arg (Ensembl:ENST00000588802) - c.218A>G (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
COSV52992083 | 75 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000019.10:g.44919202T>C Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919202T>C Locations: - c.224T>C (NCI-TCGA:ENST00000588750) - p.V75A (NCI-TCGA:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs1970059438 | 75 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000019.10:g.44919201G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919201G>T Locations: - p.Val75Leu (Ensembl:ENST00000592535) - c.223G>T (Ensembl:ENST00000592535) - p.Val75Leu (Ensembl:ENST00000588750) - c.223G>T (Ensembl:ENST00000588750) - p.Val75Leu (Ensembl:ENST00000588802) - c.223G>T (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
rs1970059438 | 75 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000019.10:g.44919201G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919201G>A Locations: - p.Val75Met (Ensembl:ENST00000588750) - c.223G>A (Ensembl:ENST00000588750) - p.Val75Met (Ensembl:ENST00000592535) - c.223G>A (Ensembl:ENST00000592535) - p.Val75Met (Ensembl:ENST00000588802) - c.223G>A (Ensembl:ENST00000588802) Source type: large scale study Cross-references: | |||||||
COSV99377249 | 77 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.29) Somatic: Yes Accession: NC_000019.10:g.44919209G>C Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919209G>C Locations: - c.231G>C (NCI-TCGA:ENST00000588750) - p.E77D (NCI-TCGA:ENST00000588750) Source type: large scale study Cross-references: | |||||||
COSV52992352 | 77 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000019.10:g.44919207G>A Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919207G>A Locations: - c.229G>A (NCI-TCGA:ENST00000588750) - p.E77K (NCI-TCGA:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs1301205070 | 81 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.648) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.44919221T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919221T>G Locations: - p.Ile81Met (Ensembl:ENST00000588750) - c.243T>G (Ensembl:ENST00000588750) - p.Ile81Met (Ensembl:ENST00000588802) - c.243T>G (Ensembl:ENST00000588802) - p.Ile81Met (Ensembl:ENST00000592535) - c.243T>G (Ensembl:ENST00000592535) Source type: large scale study Cross-references: | |||||||
rs773222722 | 81 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.426) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000019.10:g.44919220T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919220T>C Locations: - p.Ile81Thr (Ensembl:ENST00000592535) - c.242T>C (Ensembl:ENST00000592535) - p.Ile81Thr (Ensembl:ENST00000588750) - c.242T>C (Ensembl:ENST00000588750) - p.Ile81Thr (Ensembl:ENST00000588802) - c.242T>C (Ensembl:ENST00000588802) Source type: large scale study | |||||||
rs1970059688 | 82 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.44919223A>C Codon: TGA/TGC Consequence type: missense Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919223A>C Locations: - p.Asp82Ala (Ensembl:ENST00000588802) - c.245A>C (Ensembl:ENST00000588802) - p.Asp82Ala (Ensembl:ENST00000592535) - c.245A>C (Ensembl:ENST00000592535) - p.Asp82Ala (Ensembl:ENST00000588750) - c.245A>C (Ensembl:ENST00000588750) Source type: large scale study Cross-references: | |||||||
COSV52992519 | 84 | *>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop retained Somatic: Yes Accession: NC_000019.10:g.44919229G>A Consequence type: stop retained Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919229G>A Locations: - c.251G>A (NCI-TCGA:ENST00000588750) - p.*84= (NCI-TCGA:ENST00000588750) Source type: large scale study Cross-references: | |||||||
rs1970059758 | 84 | *>C | TOPMed | ||||
Consequence: stop lost Somatic: No Accession: NC_000019.10:g.44919230A>C, NC_000019.10:g.44919230A>T Codon: TGA/TGC Consequence type: stop lost Cytogenetic band: 19q13.32 Genomic location: NC_000019.10:g.44919230A>C, NC_000019.10:g.44919230A>T Locations: - p.Ter84CysextTer5 (Ensembl:ENST00000588750) - c.252A>C (Ensembl:ENST00000588750) - p.Ter84CysextTer5 (Ensembl:ENST00000588802) - c.252A>C (Ensembl:ENST00000588802) - p.Ter84CysextTer5 (Ensembl:ENST00000592535) - c.252A>C (Ensembl:ENST00000592535) - c.252A>T (Ensembl:ENST00000588750) - c.252A>T (Ensembl:ENST00000588802) - c.252A>T (Ensembl:ENST00000592535) Source type: large scale study Cross-references: |