H0YJ00 · H0YJ00_HUMAN
- Proteinpolynucleotide adenylyltransferase
- GenePAPOLA
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids203 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1293405221 | 4 | C>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000014.9:g.96527451G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527451G>T Locations: - p.Cys4Phe (Ensembl:ENST00000553461) - c.11G>T (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1448218223 | 6 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527457C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527457C>G Locations: - p.Ala6Gly (Ensembl:ENST00000553461) - c.17C>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1190992778 | 6 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000014.9:g.96527456G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527456G>A Locations: - p.Ala6Thr (Ensembl:ENST00000553461) - c.16G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1898588083 | 7 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527459C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527459C>G Locations: - p.Pro7Ala (Ensembl:ENST00000553461) - c.19C>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1183704856 | 18 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527492T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527492T>A Locations: - p.Ser18Thr (Ensembl:ENST00000553461) - c.52T>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs753661400 | 20 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00000398 (gnomAD) Accession: NC_000014.9:g.96527499A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527499A>G Locations: - p.Y20C (NCI-TCGA:ENST00000553461) - p.Tyr20Cys (Ensembl:ENST00000553461) - c.59A>G (Ensembl:ENST00000553461) Source type: large scale study | |||||||
rs1898590574 | 21 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527502A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527502A>C Locations: - p.Asp21Ala (Ensembl:ENST00000553461) - c.62A>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs749174327 | 28 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.438) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527523A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527523A>C Locations: - p.Glu28Ala (Ensembl:ENST00000553461) - c.83A>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1898592378 | 28 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527522G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527522G>A Locations: - p.Glu28Lys (Ensembl:ENST00000553461) - c.82G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1898593755 | 31-32 | DL>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.96527534_96527535insAAGCCCATCAACCAC Codon: TTA/TAAGCCCATCAACCACTA Consequence type: stop gained Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527534_96527535insAAGCCCATCAACCAC Locations: - p.Asp31_Leu32insTer (Ensembl:ENST00000553461) - c.93_94insAAGCCCATCAACCAC (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs768868325 | 35 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527957T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527957T>G Locations: - p.Val35Gly (Ensembl:ENST00000553461) - c.104T>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1898639816 | 35 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527956G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527956G>A Locations: - p.Val35Ile (Ensembl:ENST00000553461) - c.103G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs774557111 | 36 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527961A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527961A>C Locations: - p.Glu36Asp (Ensembl:ENST00000553461) - c.108A>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1595522331 | 36 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527960A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527960A>G Locations: - p.Glu36Gly (Ensembl:ENST00000553461) - c.107A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1595522343 | 38 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527966C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527966C>G Locations: - p.Ala38Gly (Ensembl:ENST00000553461) - c.113C>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1898641550 | 42 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527977G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527977G>C Locations: - p.Val42Leu (Ensembl:ENST00000553461) - c.124G>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1898643276 | 48 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527996A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527996A>G Locations: - p.Asp48Gly (Ensembl:ENST00000553461) - c.143A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1162561075 | 48 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527995G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527995G>C Locations: - p.Asp48His (Ensembl:ENST00000553461) - c.142G>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs201289414 | 49 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96527998G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96527998G>C Locations: - p.Gly49Arg (Ensembl:ENST00000553461) - c.145G>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1899012141 | 54 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96531482T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531482T>C Locations: - p.Ile54Thr (Ensembl:ENST00000553461) - c.161T>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1238301027 | 61 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96531502C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531502C>G Locations: - p.Leu61Val (Ensembl:ENST00000553461) - c.181C>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1899013879 | 64 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96531511A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531511A>G Locations: - p.Ile64Val (Ensembl:ENST00000553461) - c.190A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1279318624 | 66 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.000004026 (gnomAD) Accession: NC_000014.9:g.96531517G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531517G>A Locations: - p.E66K (NCI-TCGA:ENST00000553461) - p.Glu66Lys (Ensembl:ENST00000553461) - c.196G>A (Ensembl:ENST00000553461) Source type: large scale study | |||||||
rs1351879103 | 68 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96531523T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531523T>A Locations: - p.Leu68Met (Ensembl:ENST00000553461) - c.202T>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1225937629 | 69 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96531528T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531528T>G Locations: - p.Asp69Glu (Ensembl:ENST00000553461) - c.207T>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
COSV53481760 rs1899015681 | 71 | R>Q | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000014.9:g.96531533G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531533G>A Locations: - p.Arg71Gln (Ensembl:ENST00000553461) - c.212G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1459546268 | 74 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000014.9:g.96531541A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531541A>G Locations: - p.Ser74Gly (Ensembl:ENST00000553461) - c.220A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1202478996 | 74 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.327) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96531542G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531542G>T Locations: - p.Ser74Ile (Ensembl:ENST00000553461) - c.221G>T (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1202478996 | 74 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000014.9:g.96531542G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531542G>A Locations: - p.Ser74Asn (Ensembl:ENST00000553461) - c.221G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs762637718 | 80 | D>G | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96531560A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531560A>G Locations: - p.Asp80Gly (Ensembl:ENST00000553461) - c.239A>G (Ensembl:ENST00000553461) Source type: large scale study | |||||||
rs762637718 | 80 | D>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96531560A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531560A>T Locations: - p.Asp80Val (Ensembl:ENST00000553461) - c.239A>T (Ensembl:ENST00000553461) Source type: large scale study | |||||||
rs1179249082 | 81 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96531563T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531563T>C Locations: - p.Ile81Thr (Ensembl:ENST00000553461) - c.242T>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1233624300 | 81 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96531562A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531562A>G Locations: - p.Ile81Val (Ensembl:ENST00000553461) - c.241A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1470391312 | 83 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96531569G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531569G>A Locations: - p.Cys83Tyr (Ensembl:ENST00000553461) - c.248G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1023729588 | 87 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96531580C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96531580C>T Locations: - p.Leu87Phe (Ensembl:ENST00000553461) - c.259C>T (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1899108286 | 91 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532337G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532337G>A Locations: - p.Arg91Lys (Ensembl:ENST00000553461) - c.272G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
COSV53482651 rs1383428827 rs1383428827,COSV53482651 | 94 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000008009 (gnomAD) Accession: NC_000014.9:g.96532345G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532345G>A Locations: - p.D94N (NCI-TCGA:ENST00000553461) - p.Asp94Asn (Ensembl:ENST00000553461) - c.280G>A (Ensembl:ENST00000553461) Source type: large scale study | |||||||
rs770990359 | 102 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532370A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532370A>G Locations: - p.Asn102Ser (Ensembl:ENST00000553461) - c.305A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1222935777 | 103 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.667) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532374T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532374T>G Locations: - p.Ile103Met (Ensembl:ENST00000553461) - c.309T>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs779994005 | 103 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000014.9:g.96532373T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532373T>C Locations: - p.Ile103Thr (Ensembl:ENST00000553461) - c.308T>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1312472348 | 103 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532372A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532372A>G Locations: - p.Ile103Val (Ensembl:ENST00000553461) - c.307A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs749160955 | 104 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000014.9:g.96532377C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532377C>G Locations: - p.Asp104Glu (Ensembl:ENST00000553461) - c.312C>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1323256931 | 104 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532375G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532375G>A Locations: - p.Asp104Asn (Ensembl:ENST00000553461) - c.310G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1899113651 | 107 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.795) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532385G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532385G>A Locations: - p.Arg107Lys (Ensembl:ENST00000553461) - c.320G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1279439349 | 111 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532397G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532397G>A Locations: - p.Arg111Lys (Ensembl:ENST00000553461) - c.332G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
COSV99354576 rs774122603 | 112 | A>T | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated - low confidence (0.13) Somatic: Yes Accession: NC_000014.9:g.96532399G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532399G>A Locations: - p.Ala112Thr (Ensembl:ENST00000553461) - c.334G>A (Ensembl:ENST00000553461) Source type: large scale study | |||||||
COSV107240340 rs761596382 | 113 | I>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000014.9:g.96532402A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532402A>G Locations: - p.Ile113Val (Ensembl:ENST00000553461) - c.337A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1430385732 | 115 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532409T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532409T>C Locations: - p.Leu115Pro (Ensembl:ENST00000553461) - c.344T>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1181914074 | 119 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000014.9:g.96532420C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532420C>T Locations: - p.Arg119Cys (Ensembl:ENST00000553461) - c.355C>T (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1899127343 | 119 | R>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532511G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532511G>A Locations: - p.Arg119His (Ensembl:ENST00000553461) - c.356G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs749285358 | 120 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000014.9:g.96532514A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532514A>G Locations: - p.His120Arg (Ensembl:ENST00000553461) - c.359A>G (Ensembl:ENST00000553461) Source type: large scale study | |||||||
rs1404748177 | 121 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532516A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532516A>G Locations: - p.Asn121Asp (Ensembl:ENST00000553461) - c.361A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs768578951 | 124 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.769) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532526C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532526C>G Locations: - p.Ser124Cys (Ensembl:ENST00000553461) - c.371C>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1899128603 | 125 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.799) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532529A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532529A>G Locations: - p.Asn125Ser (Ensembl:ENST00000553461) - c.374A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1331090495 | 137 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.36) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532564A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532564A>G Locations: - p.Met137Val (Ensembl:ENST00000553461) - c.409A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
COSV53486098 rs1899131224 | 139 | V>A | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000014.9:g.96532571T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532571T>C Locations: - p.Val139Ala (Ensembl:ENST00000553461) - c.416T>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs201454300 | 145 | L>P | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532589T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532589T>C Locations: - p.Leu145Pro (Ensembl:ENST00000553461) - c.434T>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1201090284 | 148 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.487) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532598A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532598A>G Locations: - p.Asn148Ser (Ensembl:ENST00000553461) - c.443A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1212430464 | 150 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000014.9:g.96532604T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532604T>C Locations: - p.Ile150Thr (Ensembl:ENST00000553461) - c.449T>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs150902678 | 150 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.59) Somatic: No Accession: NC_000014.9:g.96532603A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532603A>G Locations: - p.Ile150Val (Ensembl:ENST00000553461) - c.448A>G (Ensembl:ENST00000553461) Source type: large scale study | |||||||
rs1899135516 | 153 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.546) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000014.9:g.96532613C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532613C>T Locations: - p.Thr153Ile (Ensembl:ENST00000553461) - c.458C>T (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1480463283 | 154 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532616T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532616T>C Locations: - p.Leu154Pro (Ensembl:ENST00000553461) - c.461T>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1899136543 | 155 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96532618G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96532618G>A Locations: - p.Val155Ile (Ensembl:ENST00000553461) - c.463G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs866541070 | 167 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.96534497G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534497G>A Locations: - p.Trp167Ter (Ensembl:ENST00000553461) - c.501G>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1205551890 | 168 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96534498C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534498C>T Locations: - p.Pro168Ser (Ensembl:ENST00000553461) - c.502C>T (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs2140289320 | 170 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96534504C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534504C>T Locations: - p.Pro170Ser (Ensembl:ENST00000553461) - c.508C>T (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1489963156 | 178 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000014.9:g.96534530A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534530A>T Locations: - p.Glu178Asp (Ensembl:ENST00000553461) - c.534A>T (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs758132864 | 180 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96534535A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534535A>G Locations: - p.Asn180Ser (Ensembl:ENST00000553461) - c.539A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1899352597 | 192 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.218) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96534571T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534571T>G Locations: - p.Val192Gly (Ensembl:ENST00000553461) - c.575T>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs144160815 | 198 | P>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000014.9:g.96534589C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534589C>G Locations: - p.Pro198Arg (Ensembl:ENST00000553461) - c.593C>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1416828137 | 198 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000014.9:g.96534588C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534588C>A Locations: - p.Pro198Thr (Ensembl:ENST00000553461) - c.592C>A (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs770675721 | 199 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000014.9:g.96534591A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534591A>C Locations: - p.Ile199Leu (Ensembl:ENST00000553461) - c.595A>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1372110459 | 201 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96534597A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534597A>G Locations: - p.Thr201Ala (Ensembl:ENST00000553461) - c.601A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs776328176 | 202 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96534601T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534601T>G Locations: - p.Val202Gly (Ensembl:ENST00000553461) - c.605T>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs1899355312 | 202 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96534600G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534600G>C Locations: - p.Val202Leu (Ensembl:ENST00000553461) - c.604G>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs573525056 | 203 | Q>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96534604A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534604A>C Locations: - p.Gln203Pro (Ensembl:ENST00000553461) - c.608A>C (Ensembl:ENST00000553461) Source type: large scale study Cross-references: | |||||||
rs573525056 | 203 | Q>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000014.9:g.96534604A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 14q32.2 Genomic location: NC_000014.9:g.96534604A>G Locations: - p.Gln203Arg (Ensembl:ENST00000553461) - c.608A>G (Ensembl:ENST00000553461) Source type: large scale study Cross-references: |