Q9NVV2 · CS073_HUMAN
- ProteinPutative uncharacterized protein C19orf73
- GeneC19orf73
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids129 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1357353250 | 2 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000019.10:g.49119018C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49119018C>T Locations: - p.Arg2Lys (Ensembl:ENST00000408991) - c.5G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1357353250 | 2 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000019.10:g.49119018C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49119018C>G Locations: - p.Arg2Thr (Ensembl:ENST00000408991) - c.5G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1239822848 | 3 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000019.10:g.49119016G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49119016G>T Locations: - p.Leu3Ile (Ensembl:ENST00000408991) - c.7C>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1239822848 | 3 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: tolerated - low confidence (0.92) Somatic: No Accession: NC_000019.10:g.49119016G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49119016G>C Locations: - p.Leu3Val (Ensembl:ENST00000408991) - c.7C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
COSV99674465 | 4 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000019.10:g.49119011C>A Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49119011C>A Locations: - c.12G>T (NCI-TCGA:ENST00000408991) - p.K4N (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs202225775 | 5 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000019.10:g.49119010C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49119010C>T Locations: - p.Val5Ile (Ensembl:ENST00000408991) - c.13G>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs202225775 | 5 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000019.10:g.49119010C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49119010C>G Locations: - p.Val5Leu (Ensembl:ENST00000408991) - c.13G>C (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs2040887310 | 6 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.49119006C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49119006C>A Locations: - p.Gly6Val (Ensembl:ENST00000408991) - c.17G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs960640283 | 7 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.49119004A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49119004A>G Locations: - p.Phe7Leu (Ensembl:ENST00000408991) - c.19T>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
COSV55522516 | 8 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000019.10:g.49119001G>A Consequence type: stop gained Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49119001G>A Locations: - c.22C>T (NCI-TCGA:ENST00000408991) - p.Q8* (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: | |||||||
COSV55521528 | 8 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.46) Somatic: Yes Accession: NC_000019.10:g.49118999T>A Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118999T>A Locations: - c.24A>T (NCI-TCGA:ENST00000408991) - p.Q8H (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1171340378 | 8 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000019.10:g.49119000T>G Codon: CAA/CCA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49119000T>G Locations: - p.Gln8Pro (Ensembl:ENST00000408991) - c.23A>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs759376579 | 9 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.49118998C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118998C>T Locations: - p.Gly9Ser (Ensembl:ENST00000408991) - c.25G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1478727417 | 9 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118997C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118997C>A Locations: - p.Gly9Val (Ensembl:ENST00000408991) - c.26G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040887097 | 10 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118995C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118995C>T Locations: - p.Gly10Arg (Ensembl:ENST00000408991) - c.28G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs762404548 | 11 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.49118991C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118991C>G Locations: - p.Gly11Ala (Ensembl:ENST00000408991) - c.32G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs762404548 | 11 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118991C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118991C>T Locations: - p.Gly11Asp (Ensembl:ENST00000408991) - c.32G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1475810861 | 11 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118992C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118992C>G Locations: - p.Gly11Arg (Ensembl:ENST00000408991) - c.31G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2122486517 | 12 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000019.10:g.49118989A>T Codon: TGC/AGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118989A>T Locations: - p.Cys12Ser (Ensembl:ENST00000408991) - c.34T>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs772716660 | 12 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118988C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118988C>T Locations: - p.Cys12Tyr (Ensembl:ENST00000408991) - c.35G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1480538166 | 13 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000019.10:g.49118986A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118986A>G Locations: - p.Phe13Leu (Ensembl:ENST00000408991) - c.37T>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040886845 | 14 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000019.10:g.49118982C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118982C>T Locations: - p.Arg14Gln (Ensembl:ENST00000408991) - c.41G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs769451822 | 14 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.49118983G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118983G>A Locations: - p.Arg14Trp (Ensembl:ENST00000408991) - c.40C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs547188125 | 15 | K>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118980T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118980T>C Locations: - p.Lys15Glu (Ensembl:ENST00000408991) - c.43A>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs200205393 | 16 | D>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000019.10:g.49118976T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118976T>C Locations: - p.Asp16Gly (Ensembl:ENST00000408991) - c.47A>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1319567738 | 16 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000019.10:g.49118977C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118977C>T Locations: - p.Asp16Asn (Ensembl:ENST00000408991) - c.46G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs780453424 | 17 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.49118973G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118973G>C Locations: - p.Ala17Gly (Ensembl:ENST00000408991) - c.50C>G (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs747321629 | 17 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.49118974C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118974C>T Locations: - p.Ala17Thr (Ensembl:ENST00000408991) - c.49G>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs1373740588 | 18 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.49118971G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118971G>C Locations: - p.Leu18Val (Ensembl:ENST00000408991) - c.52C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040886465 | 19 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000019.10:g.49118968A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118968A>G Locations: - p.Cys19Arg (Ensembl:ENST00000408991) - c.55T>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs772563410 | 19 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000019.10:g.49118967C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118967C>T Locations: - p.Cys19Tyr (Ensembl:ENST00000408991) - c.56G>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs745947835 | 20 | L>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118964A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118964A>G Locations: - p.Leu20Ser (Ensembl:ENST00000408991) - c.59T>C (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs1462069452 | 22 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118958C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118958C>T Locations: - p.Gly22Asp (Ensembl:ENST00000408991) - c.65G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs779105380 | 22 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.49118959C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118959C>T Locations: - p.Gly22Ser (Ensembl:ENST00000408991) - c.64G>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs754154749 | 23 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000019.10:g.49118955C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118955C>T Locations: - p.Gly23Glu (Ensembl:ENST00000408991) - c.68G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs201452455 | 23 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.49118956C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118956C>T Locations: - p.Gly23Arg (Ensembl:ENST00000408991) - c.67G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs754841818 | 24 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.49118952A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118952A>G Locations: - p.Val24Ala (Ensembl:ENST00000408991) - c.71T>C (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs2232001 | 24 | V>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000019.10:g.49118953C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118953C>T Locations: - p.Val24Met (Ensembl:ENST00000408991) - c.70G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1179380754 | 25 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.49118949C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118949C>A Locations: - p.Ser25Ile (Ensembl:ENST00000408991) - c.74G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs751329155 | 25 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.49118948G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118948G>C Locations: - p.Ser25Arg (Ensembl:ENST00000408991) - c.75C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs766235394 | 27 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000019.10:g.49118943C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118943C>T Locations: - p.Arg27Gln (Ensembl:ENST00000408991) - c.80G>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs1398114101 | 27 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.49118944G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118944G>A Locations: - p.Arg27Trp (Ensembl:ENST00000408991) - c.79C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1469383592 | 28 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.49118939C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118939C>T Locations: - p.Trp28Ter (Ensembl:ENST00000408991) - c.84G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs762894495 | 28 | W>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000019.10:g.49118941A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118941A>G Locations: - p.Trp28Arg (Ensembl:ENST00000408991) - c.82T>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs893983268 | 29 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118937G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118937G>C Locations: - p.Ala29Gly (Ensembl:ENST00000408991) - c.86C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1265733889 | 29 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000019.10:g.49118938C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118938C>T Locations: - p.Ala29Thr (Ensembl:ENST00000408991) - c.85G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs893983268 | 29 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.49118937G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118937G>A Locations: - p.Ala29Val (Ensembl:ENST00000408991) - c.86C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1308859934 | 30 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000019.10:g.49118935T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118935T>C Locations: - p.Arg30Gly (Ensembl:ENST00000408991) - c.88A>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs201877645 | 30 | R>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.49118934C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118934C>T Locations: - p.Arg30Lys (Ensembl:ENST00000408991) - c.89G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1325539767 | 31 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118931G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118931G>T Locations: - p.Ala31Glu (Ensembl:ENST00000408991) - c.92C>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs776286009 | 31 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118932C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118932C>G Locations: - p.Ala31Pro (Ensembl:ENST00000408991) - c.91G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs776286009 | 31 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.49118932C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118932C>T Locations: - p.Ala31Thr (Ensembl:ENST00000408991) - c.91G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1325539767 | 31 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.49118931G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118931G>A Locations: - p.Ala31Val (Ensembl:ENST00000408991) - c.92C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
COSV55521630 rs1568430419 | 32 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious - low confidence (0.03) - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.1) Somatic: No Population frequencies: - MAF: 0.00000814 (gnomAD) Accession: NC_000019.10:g.49118929G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118929G>A Locations: - p.P32S (NCI-TCGA:ENST00000408991) - p.Pro32Ser (Ensembl:ENST00000408991) - c.94C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
COSV55521552 | 33 | H>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.49) Somatic: Yes Accession: NC_000019.10:g.49118925T>A Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118925T>A Locations: - c.98A>T (NCI-TCGA:ENST00000408991) - p.H33L (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs531226605 | 33 | H>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.49118925T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118925T>G Locations: - p.His33Pro (Ensembl:ENST00000408991) - c.98A>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs531226605 | 33 | H>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000019.10:g.49118925T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118925T>C Locations: - p.His33Arg (Ensembl:ENST00000408991) - c.98A>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1453029018 | 33 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.49118926G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118926G>A Locations: - p.His33Tyr (Ensembl:ENST00000408991) - c.97C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs564087662 | 34 | S>F | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118922G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118922G>A Locations: - p.Ser34Phe (Ensembl:ENST00000408991) - c.101C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1000029134 | 35 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118920C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118920C>G Locations: - p.Ala35Pro (Ensembl:ENST00000408991) - c.103G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1000029134 | 35 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118920C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118920C>T Locations: - p.Ala35Thr (Ensembl:ENST00000408991) - c.103G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs902581466 | 36 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.49118916G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118916G>C Locations: - p.Pro36Arg (Ensembl:ENST00000408991) - c.107C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1346378792 | 36 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.49118917G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118917G>A Locations: - p.Pro36Ser (Ensembl:ENST00000408991) - c.106C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1346378792 | 36 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.49118917G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118917G>T Locations: - p.Pro36Thr (Ensembl:ENST00000408991) - c.106C>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs775866579 | 37 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.49118913A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118913A>G Locations: - p.Leu37Pro (Ensembl:ENST00000408991) - c.110T>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs200520351 | 38 | R>C | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.49118911G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118911G>A Locations: - p.Arg38Cys (Ensembl:ENST00000408991) - c.112C>T (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs200520351 | 38 | R>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000019.10:g.49118911G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118911G>T Locations: - p.Arg38Ser (Ensembl:ENST00000408991) - c.112C>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs1261884486 | 39 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.49118907G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118907G>C Locations: - p.Pro39Arg (Ensembl:ENST00000408991) - c.116C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1477104812 | 40 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000019.10:g.49118905G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118905G>C Locations: - p.Pro40Ala (Ensembl:ENST00000408991) - c.118C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs746452971 | 40 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118904G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118904G>T Locations: - p.Pro40His (Ensembl:ENST00000408991) - c.119C>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs1477104812 | 40 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000019.10:g.49118905G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118905G>A Locations: - p.Pro40Ser (Ensembl:ENST00000408991) - c.118C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs779532261 | 41 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.49118902G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118902G>C Locations: - p.Arg41Gly (Ensembl:ENST00000408991) - c.121C>G (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs527371264 | 41 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.49118901C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118901C>T Locations: - p.Arg41Gln (Ensembl:ENST00000408991) - c.122G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs779532261 | 41 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.49118902G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118902G>A Locations: - p.Arg41Trp (Ensembl:ENST00000408991) - c.121C>T (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs1568430364 | 42 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.49118899C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118899C>G Locations: - p.Glu42Gln (Ensembl:ENST00000408991) - c.124G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1245601712 | 42 | E>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118898T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118898T>A Locations: - p.Glu42Val (Ensembl:ENST00000408991) - c.125A>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1046855494 | 43 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118896G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118896G>T Locations: - p.Leu43Met (Ensembl:ENST00000408991) - c.127C>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1046855494 | 43 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.49118896G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118896G>C Locations: - p.Leu43Val (Ensembl:ENST00000408991) - c.127C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1486149133 | 44 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118891G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118891G>C Locations: - p.His44Gln (Ensembl:ENST00000408991) - c.132C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040884398 | 44 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118893G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118893G>A Locations: - p.His44Tyr (Ensembl:ENST00000408991) - c.130C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs749332888 | 45 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.49118890C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118890C>T Locations: - p.Ala45Thr (Ensembl:ENST00000408991) - c.133G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040884269 | 45 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000019.10:g.49118889G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118889G>A Locations: - p.Ala45Val (Ensembl:ENST00000408991) - c.134C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1374229209 | 46 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118886G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118886G>T Locations: - p.Ala46Glu (Ensembl:ENST00000408991) - c.137C>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs778173685 | 46 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118887C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118887C>T Locations: - p.Ala46Thr (Ensembl:ENST00000408991) - c.136G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs200869444 | 47 | P>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.49118884G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118884G>A Locations: - p.Pro47Ser (Ensembl:ENST00000408991) - c.139C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs201923438 | 48 | P>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118880G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118880G>C Locations: - p.Pro48Arg (Ensembl:ENST00000408991) - c.143C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1740150194 | 49 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.49118878G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118878G>C Locations: - p.Pro49Ala (Ensembl:ENST00000408991) - c.145C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1162281543 | 49 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118877G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118877G>A Locations: - p.Pro49Leu (Ensembl:ENST00000408991) - c.146C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1162281543 | 49 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118877G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118877G>C Locations: - p.Pro49Arg (Ensembl:ENST00000408991) - c.146C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1568430318 | 50 | A>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000019.10:g.49118874G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118874G>T Locations: - p.Ala50Glu (Ensembl:ENST00000408991) - c.149C>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs758126769 | 52 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118868G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118868G>A Locations: - p.Pro52Leu (Ensembl:ENST00000408991) - c.155C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1422926787 | 52 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118869G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118869G>T Locations: - p.Pro52Thr (Ensembl:ENST00000408991) - c.154C>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040883615 | 53 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118865G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118865G>A Locations: - p.Thr53Met (Ensembl:ENST00000408991) - c.158C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1414027737 | 54 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.49118863G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118863G>A Locations: - p.Gln54Ter (Ensembl:ENST00000408991) - c.160C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1398007803 | 54 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.49118861C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118861C>G Locations: - p.Gln54His (Ensembl:ENST00000408991) - c.162G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs750420474 | 55 | T>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.49118859G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118859G>T Locations: - p.Thr55Lys (Ensembl:ENST00000408991) - c.164C>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs765107222 | 56 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (1) Somatic: No Accession: NC_000019.10:g.49118857C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118857C>T Locations: - p.Val56Ile (Ensembl:ENST00000408991) - c.166G>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
COSV55521581 | 57 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000019.10:g.49118854C>G Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118854C>G Locations: - c.169G>C (NCI-TCGA:ENST00000408991) - p.V57L (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: | |||||||
TCGA novel | 58 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000019.10:g.49118850C>T Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118850C>T Locations: - c.173G>A (NCI-TCGA:ENST00000408991) - p.R58Q (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs756786968 | 59 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118848G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118848G>C Locations: - p.Pro59Ala (Ensembl:ENST00000408991) - c.175C>G (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs753275210 | 59 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118847G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118847G>A Locations: - p.Pro59Leu (Ensembl:ENST00000408991) - c.176C>T (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs756786968 | 59 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118848G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118848G>T Locations: - p.Pro59Thr (Ensembl:ENST00000408991) - c.175C>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs763748396 | 60 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118844G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118844G>A Locations: - p.Ala60Val (Ensembl:ENST00000408991) - c.179C>T (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs767964027 | 61 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.49118841C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118841C>T Locations: - p.Gly61Glu (Ensembl:ENST00000408991) - c.182G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs372186618 | 61 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000019.10:g.49118842C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118842C>T Locations: - p.Gly61Arg (Ensembl:ENST00000408991) - c.181G>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs775023017 COSV55521249 | 62 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed gnomAD NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (1) - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000019.10:g.49118839A>G, NC_000019.10:g.49118837G>T Codon: TTC/CTC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118839A>G, NC_000019.10:g.49118837G>T Locations: - p.Phe62Leu (Ensembl:ENST00000408991) - c.184T>C (Ensembl:ENST00000408991) - c.186C>A (NCI-TCGA:ENST00000408991) - p.F62L (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs775023017 | 62 | F>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.49118839A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118839A>C Locations: - p.Phe62Val (Ensembl:ENST00000408991) - c.184T>G (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs2122484706 | 64 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000019.10:g.49118832C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118832C>T Locations: - p.Arg64Gln (Ensembl:ENST00000408991) - c.191G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
COSV99674397 rs1600314144 | 64 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.16) - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.16) Somatic: Yes Accession: NC_000019.10:g.49118833G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118833G>A Locations: - p.R64W (NCI-TCGA:ENST00000408991) - p.Arg64Trp (Ensembl:ENST00000408991) - c.190C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040882927 | 65 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118830G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118830G>C Locations: - p.Arg65Gly (Ensembl:ENST00000408991) - c.193C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1600314138 | 65 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.49118829C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118829C>T Locations: - p.Arg65Gln (Ensembl:ENST00000408991) - c.194G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040882841 | 66 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000019.10:g.49118827T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118827T>C Locations: - p.Thr66Ala (Ensembl:ENST00000408991) - c.196A>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs749384583 | 67 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118824T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118824T>C Locations: - p.Arg67Gly (Ensembl:ENST00000408991) - c.199A>G (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs773371519 | 67 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000019.10:g.49118823C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118823C>T Locations: - p.Arg67Lys (Ensembl:ENST00000408991) - c.200G>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs1055645649 | 67 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118822C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118822C>A Locations: - p.Arg67Ser (Ensembl:ENST00000408991) - c.201G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2040882564 | 69 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.708) - SIFT: deleterious - low confidence (0.02) - PolyPhen: benign (0.045) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118816C>A, NC_000019.10:g.49118816C>T Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118816C>A, NC_000019.10:g.49118816C>T Locations: - c.207G>T (NCI-TCGA:ENST00000408991) - p.M69I (NCI-TCGA:ENST00000408991) - p.Met69Ile (Ensembl:ENST00000408991) - c.207G>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs1212843276 | 71 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000019.10:g.49118812G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118812G>A Locations: - p.Arg71Cys (Ensembl:ENST00000408991) - c.211C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs748472400 | 72 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118808G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118808G>C Locations: - p.Ser72Cys (Ensembl:ENST00000408991) - c.215C>G (Ensembl:ENST00000408991) Source type: large scale study | |||||||
COSV55521243 | 72 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000019.10:g.49118808G>A Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118808G>A Locations: - c.215C>T (NCI-TCGA:ENST00000408991) - p.S72F (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: | |||||||
COSV99674430 | 72 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.276) - SIFT: tolerated - low confidence (0.08) Somatic: Yes Accession: NC_000019.10:g.49118809A>G Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118809A>G Locations: - c.214T>C (NCI-TCGA:ENST00000408991) - p.S72P (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs781242989 | 73 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118806C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118806C>A Locations: - p.Ala73Ser (Ensembl:ENST00000408991) - c.217G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1263037242 | 74 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118803G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118803G>A Locations: - p.Pro74Ser (Ensembl:ENST00000408991) - c.220C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040882231 | 76 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118797T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118797T>C Locations: - p.Thr76Ala (Ensembl:ENST00000408991) - c.226A>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1481675509 | 76 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118796G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118796G>A Locations: - p.Thr76Ile (Ensembl:ENST00000408991) - c.227C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1370599591 | 77 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000019.10:g.49118792C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118792C>G Locations: - p.Gln77His (Ensembl:ENST00000408991) - c.231G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs745608147 | 78 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118791T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118791T>C Locations: - p.Arg78Gly (Ensembl:ENST00000408991) - c.232A>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1445417396 | 78 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.49118790C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118790C>T Locations: - p.Arg78Lys (Ensembl:ENST00000408991) - c.233G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1445417396 | 78 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118790C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118790C>G Locations: - p.Arg78Thr (Ensembl:ENST00000408991) - c.233G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs779314305 | 81 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.49118782T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118782T>G Locations: - p.Thr81Pro (Ensembl:ENST00000408991) - c.241A>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1244132200 | 82 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.49118779C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118779C>T Locations: - p.Gly82Ser (Ensembl:ENST00000408991) - c.244G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs973248599 | 83 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.49118775G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118775G>C Locations: - p.Ser83Cys (Ensembl:ENST00000408991) - c.248C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs973248599 | 83 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118775G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118775G>A Locations: - p.Ser83Phe (Ensembl:ENST00000408991) - c.248C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs757124467 | 83 | S>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.49118776A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118776A>G Locations: - p.Ser83Pro (Ensembl:ENST00000408991) - c.247T>C (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs369225081 | 84 | G>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000019.10:g.49118772C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118772C>G Locations: - p.Gly84Ala (Ensembl:ENST00000408991) - c.251G>C (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs200883485 | 84 | G>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000019.10:g.49118773C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118773C>A Locations: - p.Gly84Cys (Ensembl:ENST00000408991) - c.250G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs200883485 | 84 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000019.10:g.49118773C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118773C>G Locations: - p.Gly84Arg (Ensembl:ENST00000408991) - c.250G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs200883485 | 84 | G>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000019.10:g.49118773C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118773C>T Locations: - p.Gly84Ser (Ensembl:ENST00000408991) - c.250G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040881654 | 85 | C>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000019.10:g.49118770A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118770A>C Locations: - p.Cys85Gly (Ensembl:ENST00000408991) - c.253T>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040881654 | 85 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000019.10:g.49118770A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118770A>G Locations: - p.Cys85Arg (Ensembl:ENST00000408991) - c.253T>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1368289716 | 85 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000019.10:g.49118769C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118769C>T Locations: - p.Cys85Tyr (Ensembl:ENST00000408991) - c.254G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1600313945 | 86 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000019.10:g.49118766A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118766A>C Locations: - p.Val86Gly (Ensembl:ENST00000408991) - c.257T>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040881405 | 87 | S>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.49118763G>C Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118763G>C Locations: - p.Ser87Ter (Ensembl:ENST00000408991) - c.260C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs767030035 | 88 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.49118760C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118760C>G Locations: - p.Gly88Ala (Ensembl:ENST00000408991) - c.263G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs774790138 | 89 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.49118758G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118758G>A Locations: - p.Leu89Phe (Ensembl:ENST00000408991) - c.265C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs763616158 | 89 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.49118757A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118757A>G Locations: - p.Leu89Pro (Ensembl:ENST00000408991) - c.266T>C (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs763616158 | 89 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.49118757A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118757A>C Locations: - p.Leu89Arg (Ensembl:ENST00000408991) - c.266T>G (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs2040881079 | 90 | W>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000019.10:g.49118755A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118755A>G Locations: - p.Trp90Arg (Ensembl:ENST00000408991) - c.268T>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs544072501 | 91 | R>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000019.10:g.49118751C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118751C>T Locations: - p.Arg91Lys (Ensembl:ENST00000408991) - c.272G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs544072501 | 91 | R>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.49118751C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118751C>A Locations: - p.Arg91Met (Ensembl:ENST00000408991) - c.272G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs769960033 | 92 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000019.10:g.49118748T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118748T>C Locations: - p.Lys92Arg (Ensembl:ENST00000408991) - c.275A>G (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs1812385361 | 93 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.49118746C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118746C>T Locations: - p.Gly93Arg (Ensembl:ENST00000408991) - c.277G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs748125785 | 93 | G>V | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118745C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118745C>A Locations: - p.Gly93Val (Ensembl:ENST00000408991) - c.278G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs768690158 | 94 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000019.10:g.49118742A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118742A>G Locations: - p.Leu94Pro (Ensembl:ENST00000408991) - c.281T>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1253139453 | 95 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000019.10:g.49118739C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118739C>T Locations: - p.Gly95Asp (Ensembl:ENST00000408991) - c.284G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1568430095 | 95 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118740C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118740C>G Locations: - p.Gly95Arg (Ensembl:ENST00000408991) - c.283G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs778736618 | 96 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.49118736A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118736A>G Locations: - p.Leu96Pro (Ensembl:ENST00000408991) - c.287T>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1334730177 | 96 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000019.10:g.49118737G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118737G>C Locations: - p.Leu96Val (Ensembl:ENST00000408991) - c.286C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs191174298 | 97 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.49118734G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118734G>A Locations: - p.Arg97Cys (Ensembl:ENST00000408991) - c.289C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2232002 | 97 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000019.10:g.49118733C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118733C>T Locations: - p.Arg97His (Ensembl:ENST00000408991) - c.290G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs777548313 | 98 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118730G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118730G>T Locations: - p.Pro98His (Ensembl:ENST00000408991) - c.293C>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs777548313 | 98 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118730G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118730G>A Locations: - p.Pro98Leu (Ensembl:ENST00000408991) - c.293C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1391548518 | 98 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.49118731G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118731G>A Locations: - p.Pro98Ser (Ensembl:ENST00000408991) - c.292C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
COSV55521088 | 99 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000019.10:g.49118728G>A Consequence type: stop gained Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118728G>A Locations: - c.295C>T (NCI-TCGA:ENST00000408991) - p.Q99* (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1391845505 | 99 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.49118728G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118728G>C Locations: - p.Gln99Glu (Ensembl:ENST00000408991) - c.295C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs958245401 | 99 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.49118726C>G, NC_000019.10:g.49118726C>A Codon: CAG/CAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118726C>G, NC_000019.10:g.49118726C>A Locations: - p.Gln99His (Ensembl:ENST00000408991) - c.297G>C (Ensembl:ENST00000408991) - c.297G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs369305575 | 100 | T>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118724G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118724G>A Locations: - p.Thr100Met (Ensembl:ENST00000408991) - c.299C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1712002890 | 102 | L>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000019.10:g.49118718A>G Codon: TTA/TCA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118718A>G Locations: - p.Leu102Ser (Ensembl:ENST00000408991) - c.305T>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1417981313 | 103 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.49118715C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118715C>T Locations: - p.Arg103Lys (Ensembl:ENST00000408991) - c.308G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1417981313 | 103 | R>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118715C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118715C>A Locations: - p.Arg103Met (Ensembl:ENST00000408991) - c.308G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1417981313 | 103 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118715C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118715C>G Locations: - p.Arg103Thr (Ensembl:ENST00000408991) - c.308G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1365872903 | 104 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.49118713C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118713C>T Locations: - p.Val104Ile (Ensembl:ENST00000408991) - c.310G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2122483236 | 105 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118709C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118709C>T Locations: - p.Gly105Asp (Ensembl:ENST00000408991) - c.314G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040879801 | 105 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118710C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118710C>T Locations: - p.Gly105Ser (Ensembl:ENST00000408991) - c.313G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2232003 | 106 | S>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000019.10:g.49118707T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118707T>A Locations: - p.Ser106Cys (Ensembl:ENST00000408991) - c.316A>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
VAR_046164 rs2232003 | 106 | S>G | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000019.10:g.49118707T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118707T>C Locations: - p.Ser106Gly (UniProt:Q9NVV2) Source type: mixed Cross-references: | |||||||
rs754530407 | 106 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.49118706C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118706C>T Locations: - p.Ser106Asn (Ensembl:ENST00000408991) - c.317G>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs368548388 | 108 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118701C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118701C>G Locations: - p.Val108Leu (Ensembl:ENST00000408991) - c.322G>C (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs1025050213 | 109 | L>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118697A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118697A>T Locations: - p.Leu109His (Ensembl:ENST00000408991) - c.326T>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2122483067 | 111 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.49118691G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118691G>C Locations: - p.Ser111Cys (Ensembl:ENST00000408991) - c.332C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1273924582 | 112 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000019.10:g.49118689C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118689C>G Locations: - p.Ala112Pro (Ensembl:ENST00000408991) - c.334G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1273924582 | 112 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000019.10:g.49118689C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118689C>A Locations: - p.Ala112Ser (Ensembl:ENST00000408991) - c.334G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs763382916 | 113 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000019.10:g.49118685G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118685G>A Locations: - p.Pro113Leu (Ensembl:ENST00000408991) - c.338C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs763382916 | 113 | P>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.49118685G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118685G>T Locations: - p.Pro113Gln (Ensembl:ENST00000408991) - c.338C>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040879345 | 114 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118683C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118683C>G Locations: - p.Ala114Pro (Ensembl:ENST00000408991) - c.340G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs751019870 | 115 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000019.10:g.49118680G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118680G>A Locations: - p.Leu115Phe (Ensembl:ENST00000408991) - c.343C>T (Ensembl:ENST00000408991) Source type: large scale study | |||||||
COSV55521600 | 116 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000019.10:g.49118676C>G Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118676C>G Locations: - c.347G>C (NCI-TCGA:ENST00000408991) - p.R116T (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs553806555 | 117 | P>H | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118673G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118673G>T Locations: - p.Pro117His (Ensembl:ENST00000408991) - c.350C>A (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs895152885 | 117 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000019.10:g.49118674G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118674G>A Locations: - p.Pro117Ser (Ensembl:ENST00000408991) - c.349C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040879105 | 118 | R>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118670C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118670C>A Locations: - p.Arg118Ile (Ensembl:ENST00000408991) - c.353G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1240259608 | 119 | L>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000019.10:g.49118667A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118667A>T Locations: - p.Leu119Gln (Ensembl:ENST00000408991) - c.356T>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1300745244 | 120 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000019.10:g.49118664C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118664C>G Locations: - p.Gly120Ala (Ensembl:ENST00000408991) - c.359G>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs761952342 | 121 | P>R | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000019.10:g.49118661G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118661G>C Locations: - p.Pro121Arg (Ensembl:ENST00000408991) - c.362C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2122482749 | 122 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000019.10:g.49118659A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118659A>G Locations: - p.Cys122Arg (Ensembl:ENST00000408991) - c.364T>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
COSV99674573 | 122 | C>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000019.10:g.49118659A>T Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118659A>T Locations: - c.364T>A (NCI-TCGA:ENST00000408991) - p.C122S (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1327353615 | 123 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118655A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118655A>G Locations: - p.Leu123Pro (Ensembl:ENST00000408991) - c.368T>C (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs375620470 | 124 | R>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000019.10:g.49118653G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118653G>A Locations: - p.Arg124Cys (Ensembl:ENST00000408991) - c.370C>T (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs375620470 | 124 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000019.10:g.49118653G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118653G>C Locations: - p.Arg124Gly (Ensembl:ENST00000408991) - c.370C>G (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs1384252167 | 124 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000019.10:g.49118652C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118652C>T Locations: - p.Arg124His (Ensembl:ENST00000408991) - c.371G>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1384252167 | 124 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000019.10:g.49118652C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118652C>A Locations: - p.Arg124Leu (Ensembl:ENST00000408991) - c.371G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs371920827 | 125 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000019.10:g.49118649G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118649G>A Locations: - p.Pro125Leu (Ensembl:ENST00000408991) - c.374C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs775657448 | 125 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000019.10:g.49118650G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118650G>A Locations: - p.Pro125Ser (Ensembl:ENST00000408991) - c.373C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs777798156 | 126 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000019.10:g.49118646G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118646G>A Locations: - p.Pro126Leu (Ensembl:ENST00000408991) - c.377C>T (Ensembl:ENST00000408991) Source type: large scale study | |||||||
COSV99674473 | 126 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: tolerated - low confidence (0.24) Somatic: Yes Accession: NC_000019.10:g.49118647G>A Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118647G>A Locations: - c.376C>T (NCI-TCGA:ENST00000408991) - p.P126S (NCI-TCGA:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs940529830 | 127 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.49118643G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118643G>A Locations: - p.Pro127Leu (Ensembl:ENST00000408991) - c.380C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs370315696 | 127 | P>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.49118644G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118644G>A Locations: - p.Pro127Ser (Ensembl:ENST00000408991) - c.379C>T (Ensembl:ENST00000408991) Source type: large scale study | |||||||
rs756007793 | 128 | S>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000019.10:g.49118640G>T Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118640G>T Locations: - p.Ser128Ter (Ensembl:ENST00000408991) - c.383C>A (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs756007793 | 128 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000019.10:g.49118640G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118640G>A Locations: - p.Ser128Leu (Ensembl:ENST00000408991) - c.383C>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs756007793 | 128 | S>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000019.10:g.49118640G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118640G>C Locations: - p.Ser128Trp (Ensembl:ENST00000408991) - c.383C>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs1206263528 | 129 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000019.10:g.49118638C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118638C>A Locations: - p.Asp129Tyr (Ensembl:ENST00000408991) - c.385G>T (Ensembl:ENST00000408991) Source type: large scale study Cross-references: | |||||||
rs2040878156 | 130 | *>W | TOPMed | ||||
Consequence: stop lost Somatic: No Accession: NC_000019.10:g.49118634T>C Codon: TAG/TGG Consequence type: stop lost Cytogenetic band: 19q13.33 Genomic location: NC_000019.10:g.49118634T>C Locations: - p.Ter130TrpextTer17 (Ensembl:ENST00000408991) - c.389A>G (Ensembl:ENST00000408991) Source type: large scale study Cross-references: |