G3V5M0 · G3V5M0_HUMAN
- Proteinexodeoxyribonuclease III
- GeneAPEX1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids162 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs753201737 | 2 | Y>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000014.9:g.20455770T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455770T>G Locations: - p.Tyr2Asp (Ensembl:ENST00000557150) - c.4T>G (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs753201737 | 2 | Y>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000014.9:g.20455770T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455770T>A Locations: - p.Tyr2Asn (Ensembl:ENST00000557150) - c.4T>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs753254929 | 3 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20455915G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455915G>C Locations: - p.Glu3Asp (Ensembl:ENST00000557150) - c.9G>C (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs958664329 | 3 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20455914A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455914A>G Locations: - p.Glu3Gly (Ensembl:ENST00000557150) - c.8A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1566512613 | 3 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20455773G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455773G>A Locations: - p.Glu3Lys (Ensembl:ENST00000557150) - c.7G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs150934075 | 4 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20455917C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455917C>T Locations: - p.Pro4Leu (Ensembl:ENST00000557150) - c.11C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1362731824 | 6 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000014.9:g.20455922G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455922G>C Locations: - p.Ala6Pro (Ensembl:ENST00000557150) - c.16G>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881308195 | 7 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20455925A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455925A>G Locations: - p.Lys7Glu (Ensembl:ENST00000557150) - c.19A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1315577010 | 8 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20455930G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455930G>C Locations: - p.Lys8Asn (Ensembl:ENST00000557150) - c.24G>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs981561125 | 8 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000014.9:g.20455929A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455929A>G Locations: - p.Lys8Arg (Ensembl:ENST00000557150) - c.23A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881309057 | 9 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000014.9:g.20455931A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455931A>G Locations: - p.Ser9Gly (Ensembl:ENST00000557150) - c.25A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1361507648 | 9 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000014.9:g.20455932G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455932G>A Locations: - p.Ser9Asn (Ensembl:ENST00000557150) - c.26G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs200630518 | 9 | S>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000014.9:g.20455933T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455933T>G Locations: - p.Ser9Arg (Ensembl:ENST00000557150) - c.27T>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs754170368 | 10 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20455936G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455936G>C Locations: - p.Lys10Asn (Ensembl:ENST00000557150) - c.30G>C (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1447700473 | 12 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.20455940G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455940G>C Locations: - p.Ala12Pro (Ensembl:ENST00000557150) - c.34G>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1333878757 | 13 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000014.9:g.20455943G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455943G>A Locations: - p.Ala13Thr (Ensembl:ENST00000557150) - c.37G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs757544475 | 13 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000014.9:g.20455944C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455944C>T Locations: - p.Ala13Val (Ensembl:ENST00000557150) - c.38C>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1184609076 | 17 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000014.9:g.20455955G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455955G>A Locations: - p.Asp17Asn (Ensembl:ENST00000557150) - c.49G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
COSV99164556 rs61757709 | 18 | K>Q | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000014.9:g.20455958A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455958A>C Locations: - p.Lys18Gln (Ensembl:ENST00000557150) - c.52A>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs780798298 | 18 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000014.9:g.20455959A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455959A>G Locations: - p.Lys18Arg (Ensembl:ENST00000557150) - c.53A>G (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1881312360 | 19 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000014.9:g.20455962A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455962A>C Locations: - p.Glu19Ala (Ensembl:ENST00000557150) - c.56A>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1389360519 | 19 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000014.9:g.20455961G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455961G>A Locations: - p.Glu19Lys (Ensembl:ENST00000557150) - c.55G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs945742350 | 21 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000014.9:g.20455967G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455967G>A Locations: - p.Ala21Thr (Ensembl:ENST00000557150) - c.61G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1265224003 | 21 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000014.9:g.20455968C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455968C>T Locations: - p.Ala21Val (Ensembl:ENST00000557150) - c.62C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs34632023 | 22 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000014.9:g.20455971G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455971G>A Locations: - p.Gly22Glu (Ensembl:ENST00000557150) - c.65G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881312801 | 22 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000014.9:g.20455970G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455970G>A Locations: - p.Gly22Arg (Ensembl:ENST00000557150) - c.64G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1322078170 | 25 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000014.9:g.20455979C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455979C>T Locations: - p.Pro25Ser (Ensembl:ENST00000557150) - c.73C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs769789649 | 26 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000014.9:g.20455982G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455982G>A Locations: - p.Ala26Thr (Ensembl:ENST00000557150) - c.76G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs146439344 | 26 | A>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000014.9:g.20455983C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455983C>T Locations: - p.Ala26Val (Ensembl:ENST00000557150) - c.77C>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1881313984 | 27 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000014.9:g.20455986T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455986T>C Locations: - p.Leu27Pro (Ensembl:ENST00000557150) - c.80T>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs745852498 | 28 | Y>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000014.9:g.20455989A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455989A>C Locations: - p.Tyr28Ser (Ensembl:ENST00000557150) - c.83A>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1338551477 | 29 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20455992A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455992A>G Locations: - p.Glu29Gly (Ensembl:ENST00000557150) - c.86A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs749166265 | 29 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000014.9:g.20455991G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455991G>A Locations: - p.Glu29Lys (Ensembl:ENST00000557150) - c.85G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881315577 | 30 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.20455996C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455996C>A Locations: - p.Asp30Glu (Ensembl:ENST00000557150) - c.90C>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1337142602 | 30 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.20455994G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455994G>A Locations: - p.Asp30Asn (Ensembl:ENST00000557150) - c.88G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
COSV51659273 rs1313230572 | 31 | P>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: tolerated (0.6) Somatic: Yes Accession: NC_000014.9:g.20455998C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20455998C>T Locations: - p.Pro31Leu (Ensembl:ENST00000557150) - c.92C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs369666174 | 32 | P>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20456000C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456000C>G Locations: - p.Pro32Ala (Ensembl:ENST00000557150) - c.94C>G (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs759659710 | 32 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456001C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456001C>G Locations: - p.Pro32Arg (Ensembl:ENST00000557150) - c.95C>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs369666174 | 32 | P>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000014.9:g.20456000C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456000C>T Locations: - p.Pro32Ser (Ensembl:ENST00000557150) - c.94C>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1464621661 | 33 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000014.9:g.20456005T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456005T>A Locations: - p.Asp33Glu (Ensembl:ENST00000557150) - c.99T>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs775510655 | 33 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000014.9:g.20456003G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456003G>A Locations: - p.Asp33Asn (Ensembl:ENST00000557150) - c.97G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
COSV51657694 rs1050256568 | 34 | Q>* | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000014.9:g.20456006C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456006C>T Locations: - p.Gln34Ter (Ensembl:ENST00000557150) - c.100C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1050256568 | 34 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000014.9:g.20456006C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456006C>G Locations: - p.Gln34Glu (Ensembl:ENST00000557150) - c.100C>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs764640198 | 35 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.456) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000014.9:g.20456011A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456011A>T Locations: - p.Lys35Asn (Ensembl:ENST00000557150) - c.105A>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs757677493 | 36 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.135) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456013C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456013C>T Locations: - p.Thr36Ile (Ensembl:ENST00000557150) - c.107C>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs754291465 | 36 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456012A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456012A>C Locations: - p.Thr36Pro (Ensembl:ENST00000557150) - c.106A>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs751245087 | 38 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000014.9:g.20456018C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456018C>G Locations: - p.Pro38Ala (Ensembl:ENST00000557150) - c.112C>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881319109 | 38 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000014.9:g.20456019C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456019C>G Locations: - p.Pro38Arg (Ensembl:ENST00000557150) - c.113C>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1456364058 | 39 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.678) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20456021A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456021A>T Locations: - p.Ser39Cys (Ensembl:ENST00000557150) - c.115A>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1456364058 | 39 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000014.9:g.20456021A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456021A>G Locations: - p.Ser39Gly (Ensembl:ENST00000557150) - c.115A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1337033496 | 39 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000014.9:g.20456022G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456022G>T Locations: - p.Ser39Ile (Ensembl:ENST00000557150) - c.116G>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1337033496 | 39 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000014.9:g.20456022G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456022G>A Locations: - p.Ser39Asn (Ensembl:ENST00000557150) - c.116G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs780855518 | 39 | S>R | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000014.9:g.20456023T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456023T>G Locations: - p.Ser39Arg (Ensembl:ENST00000557150) - c.117T>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs747605500 | 40 | G>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456024G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456024G>T Locations: - p.Gly40Cys (Ensembl:ENST00000557150) - c.118G>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
COSV51659077 rs755672481 | 41 | K>N | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000014.9:g.20456029A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456029A>C Locations: - p.Lys41Asn (Ensembl:ENST00000557150) - c.123A>C (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1881320560 | 42 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000014.9:g.20456030C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456030C>T Locations: - p.Pro42Ser (Ensembl:ENST00000557150) - c.124C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs373098874 | 43 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000014.9:g.20456034C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456034C>T Locations: - p.Ala43Val (Ensembl:ENST00000557150) - c.128C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs775497483 | 44 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456036A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456036A>G Locations: - p.Thr44Ala (Ensembl:ENST00000557150) - c.130A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs747608019 | 44 | T>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456037C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456037C>A Locations: - p.Thr44Lys (Ensembl:ENST00000557150) - c.131C>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
TCGA novel rs749153149 | 46 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456044G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456044G>T Locations: - p.K46N (NCI-TCGA:ENST00000557150) - p.Lys46Asn (Ensembl:ENST00000557150) - c.138G>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1189814257 | 46 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.519) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.20456043A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456043A>G Locations: - p.Lys46Arg (Ensembl:ENST00000557150) - c.137A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs61730854 | 47 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456046T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456046T>C Locations: - p.Ile47Thr (Ensembl:ENST00000557150) - c.140T>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1566513104 | 49 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.215) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.20456052C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456052C>G Locations: - p.Ser49Cys (Ensembl:ENST00000557150) - c.146C>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881322893 | 50 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20456056G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456056G>A Locations: - p.Trp50Ter (Ensembl:ENST00000557150) - c.150G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
VAR_013455 COSV105067964 rs1048945 | 51 | Q>H | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000014.9:g.20456008G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456008G>C Locations: - p.Gln51His (UniProt:P27695) - p.Gln34His (Ensembl:ENST00000557150) - c.102G>C (Ensembl:ENST00000557150) Source type: mixed | |||||||
rs1881323065 | 52 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456061T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456061T>C Locations: - p.Val52Ala (Ensembl:ENST00000557150) - c.155T>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs772221516 | 54 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456067G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456067G>C Locations: - p.Gly54Ala (Ensembl:ENST00000557150) - c.161G>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs760806966 | 55 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456069C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456069C>T Locations: - p.Leu55Phe (Ensembl:ENST00000557150) - c.163C>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs768583895 | 56 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20456072C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456072C>T Locations: - p.Arg56Ter (Ensembl:ENST00000557150) - c.166C>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1440054813 | 56 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000014.9:g.20456073G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456073G>A Locations: - p.Arg56Gln (Ensembl:ENST00000557150) - c.167G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1180719388 | 58 | W>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456080G>C, NC_000014.9:g.20456080G>T Codon: TGG/TGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456080G>C, NC_000014.9:g.20456080G>T Locations: - p.Trp58Cys (Ensembl:ENST00000557150) - c.174G>C (Ensembl:ENST00000557150) - c.174G>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1228302992 | 60 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000014.9:g.20456085A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456085A>G Locations: - p.Lys60Arg (Ensembl:ENST00000557150) - c.179A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1299502018 | 64 | L>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.297) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20456097T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456097T>C Locations: - p.Leu64Ser (Ensembl:ENST00000557150) - c.191T>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
VAR_014823 COSV51657514 RCV000950790 rs2307486 | 64 | I>V | Benign (Ensembl, ClinVar) | UniProt cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.01198 (ClinVar) Accession: NC_000014.9:g.20456045A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456045A>G Locations: - p.Ile64Val (UniProt:P27695) - p.Ile47Val (Ensembl:ENST00000557150) - c.139A>G (Ensembl:ENST00000557150) Source type: mixed | |||||||
rs1176652658 | 65 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.383) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000014.9:g.20456100A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456100A>G Locations: - p.Asp65Gly (Ensembl:ENST00000557150) - c.194A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs570639267 | 65 | D>Y | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456099G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456099G>T Locations: - p.Asp65Tyr (Ensembl:ENST00000557150) - c.193G>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1881380125 | 66 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20456670G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456670G>A Locations: - p.Trp66Ter (Ensembl:ENST00000557150) - c.198G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1369899922 | 66 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456668T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456668T>C Locations: - p.Trp66Arg (Ensembl:ENST00000557150) - c.196T>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1175415280 | 69 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000014.9:g.20456677G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456677G>A Locations: - p.Glu69Lys (Ensembl:ENST00000557150) - c.205G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs762384959 | 70 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456680G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456680G>A Locations: - p.Glu70Lys (Ensembl:ENST00000557150) - c.208G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
CA7081502 RCV000626483 rs762384959 | 70 | E>Q | Head and neck cancer (ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.758) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000014.9:g.20456680G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456680G>C Locations: - p.Glu70Gln (Ensembl:ENST00000557150) - c.208G>C (Ensembl:ENST00000557150) Disease association: - Head and neck cancer Source type: large scale study Cross-references: | |||||||
rs146768400 | 71 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000014.9:g.20456683G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456683G>A Locations: - p.Ala71Thr (Ensembl:ENST00000557150) - c.211G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1006389929 | 73 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.923) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20456689G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456689G>A Locations: - p.Asp73Asn (Ensembl:ENST00000557150) - c.217G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs773843765 | 73 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456690A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456690A>T Locations: - p.Asp73Val (Ensembl:ENST00000557150) - c.218A>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs780082716 | 74 | I>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456693T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456693T>A Locations: - p.Ile74Lys (Ensembl:ENST00000557150) - c.221T>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs766820374 | 74 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456694A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456694A>G Locations: - p.Ile74Met (Ensembl:ENST00000557150) - c.222A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs780082716 | 74 | I>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456693T>G Codon: ATA/AGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456693T>G Locations: - p.Ile74Arg (Ensembl:ENST00000557150) - c.221T>G (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs780082716 | 74 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456693T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456693T>C Locations: - p.Ile74Thr (Ensembl:ENST00000557150) - c.221T>C (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1361185981 | 74 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000014.9:g.20456692A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456692A>G Locations: - p.Ile74Val (Ensembl:ENST00000557150) - c.220A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1226674405 | 75 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456696T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456696T>C Locations: - p.Leu75Pro (Ensembl:ENST00000557150) - c.224T>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs372962455 | 75 | L>V | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.231) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000014.9:g.20456695C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456695C>G Locations: - p.Leu75Val (Ensembl:ENST00000557150) - c.223C>G (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs375605404 | 76 | C>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20456700C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456700C>A Locations: - p.Cys76Ter (Ensembl:ENST00000557150) - c.228C>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1881382556 | 76 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456699G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456699G>A Locations: - p.Cys76Tyr (Ensembl:ENST00000557150) - c.227G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1269760185 | 79 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456709G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456709G>T Locations: - p.Glu79Asp (Ensembl:ENST00000557150) - c.237G>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs749118773 | 79 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456707G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456707G>A Locations: - p.Glu79Lys (Ensembl:ENST00000557150) - c.235G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1487249349 | 82 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456717G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456717G>A Locations: - p.Cys82Tyr (Ensembl:ENST00000557150) - c.245G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881383610 | 83 | S>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20456720C>G Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456720C>G Locations: - p.Ser83Ter (Ensembl:ENST00000557150) - c.248C>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881383610 | 83 | S>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456720C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456720C>T Locations: - p.Ser83Leu (Ensembl:ENST00000557150) - c.248C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs375416869 | 85 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000014.9:g.20456726A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456726A>G Locations: - p.Asn85Ser (Ensembl:ENST00000557150) - c.254A>G (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs549874112 | 90 | E>* | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20456740G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456740G>T Locations: - p.Glu90Ter (Ensembl:ENST00000557150) - c.268G>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs779775103 | 90 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456741A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456741A>C Locations: - p.Glu90Ala (Ensembl:ENST00000557150) - c.269A>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs549874112 | 90 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456740G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456740G>A Locations: - p.Glu90Lys (Ensembl:ENST00000557150) - c.268G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1366762759 | 91 | L>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.74) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456744T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456744T>A Locations: - p.Leu91His (Ensembl:ENST00000557150) - c.272T>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
COSV105067963 rs1881385700 | 92 | Q>E | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.19) Somatic: Yes Accession: NC_000014.9:g.20456746C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456746C>G Locations: - p.Gln92Glu (Ensembl:ENST00000557150) - c.274C>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs200702900 | 93 | E>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000014.9:g.20456750A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456750A>C Locations: - p.Glu93Ala (Ensembl:ENST00000557150) - c.278A>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs200702900 | 93 | E>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000014.9:g.20456750A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456750A>G Locations: - p.Glu93Gly (Ensembl:ENST00000557150) - c.278A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881386753 | 96 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.333) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000014.9:g.20456758G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456758G>A Locations: - p.Gly96Arg (Ensembl:ENST00000557150) - c.286G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
COSV99164464 rs1881387596 | 98 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.392) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000014.9:g.20456765C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456765C>T Locations: - p.S98F (NCI-TCGA:ENST00000557150) - p.Ser98Phe (Ensembl:ENST00000557150) - c.293C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881387892 | 99 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456769T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456769T>G Locations: - p.His99Gln (Ensembl:ENST00000557150) - c.297T>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881388047 | 100 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20456770C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456770C>T Locations: - p.Gln100Ter (Ensembl:ENST00000557150) - c.298C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881388188 | 100 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000014.9:g.20456771A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456771A>G Locations: - p.Gln100Arg (Ensembl:ENST00000557150) - c.299A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881388498 | 101 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456774A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456774A>G Locations: - p.Tyr101Cys (Ensembl:ENST00000557150) - c.302A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881388823 | 102 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20456777G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456777G>A Locations: - p.Trp102Ter (Ensembl:ENST00000557150) - c.305G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1408678316 | 102 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20456776T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456776T>C Locations: - p.Trp102Arg (Ensembl:ENST00000557150) - c.304T>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs553763093 | 103 | S>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.83) Somatic: No Accession: NC_000014.9:g.20456780C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456780C>T Locations: - p.Ser103Leu (Ensembl:ENST00000557150) - c.308C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs371585266 | 104 | A>S | 1000Genomes ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.96) Somatic: No Accession: NC_000014.9:g.20456782G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456782G>T Locations: - p.Ala104Ser (Ensembl:ENST00000557150) - c.310G>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs371585266 | 104 | A>T | 1000Genomes ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000014.9:g.20456782G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456782G>A Locations: - p.Ala104Thr (Ensembl:ENST00000557150) - c.310G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs749792292 | 104 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000014.9:g.20456783C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456783C>T Locations: - p.Ala104Val (Ensembl:ENST00000557150) - c.311C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1268308753 | 106 | S>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000014.9:g.20456789C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456789C>T Locations: - p.Ser106Leu (Ensembl:ENST00000557150) - c.317C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
COSV99164552 rs1881390025 | 107 | D>E | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: Yes Accession: NC_000014.9:g.20456793C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456793C>A Locations: - p.Asp107Glu (Ensembl:ENST00000557150) - c.321C>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs2139306328 | 108 | K>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20456794A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456794A>T Locations: - p.Lys108Ter (Ensembl:ENST00000557150) - c.322A>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs771448375 | 108 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456796G>C, NC_000014.9:g.20456796G>T Codon: AAG/AAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456796G>C, NC_000014.9:g.20456796G>T Locations: - p.Lys108Asn (Ensembl:ENST00000557150) - c.324G>C (Ensembl:ENST00000557150) - c.324G>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs760384271 | 109 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.20456798A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456798A>G Locations: - p.Glu109Gly (Ensembl:ENST00000557150) - c.326A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1483477589 | 110 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20456801G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456801G>A Locations: - p.Gly110Glu (Ensembl:ENST00000557150) - c.329G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
COSV99164455 rs1483477589 | 110 | G>V | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000014.9:g.20456801G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456801G>T Locations: - p.Gly110Val (Ensembl:ENST00000557150) - c.329G>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs985325188 | 112 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000014.9:g.20456806A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456806A>C Locations: - p.Ser112Arg (Ensembl:ENST00000557150) - c.334A>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs764702626 | 114 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456813T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456813T>C Locations: - p.Val114Ala (Ensembl:ENST00000557150) - c.341T>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
COSV51658240 rs761265704 | 114 | V>M | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000014.9:g.20456812G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456812G>A Locations: - p.Val114Met (Ensembl:ENST00000557150) - c.340G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1450674252 | 115 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000014.9:g.20456816G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456816G>C Locations: - p.Gly115Ala (Ensembl:ENST00000557150) - c.344G>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1450674252 | 115 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456816G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456816G>A Locations: - p.Gly115Asp (Ensembl:ENST00000557150) - c.344G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs750378743 | 115 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456815G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456815G>C Locations: - p.Gly115Arg (Ensembl:ENST00000557150) - c.343G>C (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs750378743 | 115 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000014.9:g.20456815G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456815G>A Locations: - p.Gly115Ser (Ensembl:ENST00000557150) - c.343G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1881393267 | 117 | L>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.5) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456821C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456821C>A Locations: - p.Leu117Ile (Ensembl:ENST00000557150) - c.349C>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs766164913 | 118 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000014.9:g.20456824T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456824T>C Locations: - p.Ser118Pro (Ensembl:ENST00000557150) - c.352T>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1030051066 | 118 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456825C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456825C>A Locations: - p.Ser118Tyr (Ensembl:ENST00000557150) - c.353C>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
COSV51658745 rs374264849 | 119 | R>C | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000014.9:g.20456827C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456827C>T Locations: - p.Arg119Cys (Ensembl:ENST00000557150) - c.355C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs368377040 | 119 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456828G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456828G>A Locations: - p.Arg119His (Ensembl:ENST00000557150) - c.356G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs781337217 | 120 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000014.9:g.20456831A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456831A>G Locations: - p.Gln120Arg (Ensembl:ENST00000557150) - c.359A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs150356603 | 121 | C>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000014.9:g.20456834G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456834G>A Locations: - p.Cys121Tyr (Ensembl:ENST00000557150) - c.362G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1881395636 | 123 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456839C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456839C>T Locations: - p.Leu123Phe (Ensembl:ENST00000557150) - c.367C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1444361516 | 123 | L>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20456840T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456840T>A Locations: - p.Leu123His (Ensembl:ENST00000557150) - c.368T>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs777954165 | 124 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000014.9:g.20456842A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456842A>G Locations: - p.Lys124Glu (Ensembl:ENST00000557150) - c.370A>G (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1164029513 | 125 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.231) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456845G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456845G>C Locations: - p.Val125Leu (Ensembl:ENST00000557150) - c.373G>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs749845748 | 127 | Y>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20456853C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456853C>A Locations: - p.Tyr127Ter (Ensembl:ENST00000557150) - c.381C>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1881396807 | 127 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20456852A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456852A>G Locations: - p.Tyr127Cys (Ensembl:ENST00000557150) - c.380A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs371886058 | 128 | G>C | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456854G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456854G>T Locations: - p.Gly128Cys (Ensembl:ENST00000557150) - c.382G>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
COSV99164475 rs1471676715 | 128 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000004018 (gnomAD) Accession: NC_000014.9:g.20456855G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456855G>A Locations: - p.G128D (NCI-TCGA:ENST00000557150) - p.Gly128Asp (Ensembl:ENST00000557150) - c.383G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs371886058 | 128 | G>R | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456854G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456854G>C Locations: - p.Gly128Arg (Ensembl:ENST00000557150) - c.382G>C (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs371886058 | 128 | G>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20456854G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456854G>A Locations: - p.Gly128Ser (Ensembl:ENST00000557150) - c.382G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
COSV51657358 rs201190560 | 129 | I>V | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000014.9:g.20456857A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456857A>G Locations: - p.Ile129Val (Ensembl:ENST00000557150) - c.385A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1438145964 | 130 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.456) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000014.9:g.20456991G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456991G>A Locations: - p.Gly130Asp (Ensembl:ENST00000557150) - c.389G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881398591 | 130 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20456860G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456860G>A Locations: - p.Gly130Ser (Ensembl:ENST00000557150) - c.388G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1130409 | 131 | D>E | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.20456995T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456995T>A Locations: - p.Asp131Glu (Ensembl:ENST00000557150) - c.393T>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs746359210 | 131 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000014.9:g.20456993G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456993G>A Locations: - p.Asp131Asn (Ensembl:ENST00000557150) - c.391G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
RCV000897864 RCV003958086 rs747759495 | 132 | E>K | APEX1-related disorder (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.22) Somatic: No Population frequencies: - MAF: 0.0003 (ClinVar) Accession: NC_000014.9:g.20456996G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456996G>A Locations: - p.Glu132Lys (Ensembl:ENST00000557150) - c.394G>A (Ensembl:ENST00000557150) Disease association: - APEX1-related disorder Source type: large scale study Cross-references: | |||||||
rs560607339 | 133 | E>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.543) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.20457000A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457000A>G Locations: - p.Glu133Gly (Ensembl:ENST00000557150) - c.398A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs376277634 | 133 | E>Q | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.411) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.20456999G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456999G>C Locations: - p.Glu133Gln (Ensembl:ENST00000557150) - c.397G>C (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1018358642 | 134 | H>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20457003A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457003A>C Locations: - p.His134Pro (Ensembl:ENST00000557150) - c.401A>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs538067357 | 134 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.73) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000014.9:g.20457004T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457004T>G Locations: - p.His134Gln (Ensembl:ENST00000557150) - c.402T>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1007411884 | 134 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.207) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000014.9:g.20457002C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457002C>T Locations: - p.His134Tyr (Ensembl:ENST00000557150) - c.400C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs762516217 | 135 | D>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457006A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457006A>C Locations: - p.Asp135Ala (Ensembl:ENST00000557150) - c.404A>C (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs770396638 | 136 | Q>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20457008C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457008C>T Locations: - p.Gln136Ter (Ensembl:ENST00000557150) - c.406C>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs770396638 | 136 | Q>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.20457008C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457008C>A Locations: - p.Gln136Lys (Ensembl:ENST00000557150) - c.406C>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs965220172 | 137 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457011G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457011G>A Locations: - p.Glu137Lys (Ensembl:ENST00000557150) - c.409G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs752473392 | 139 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457018G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457018G>C Locations: - p.Arg139Pro (Ensembl:ENST00000557150) - c.416G>C (Ensembl:ENST00000557150) Source type: large scale study | |||||||
COSV99032172 rs752473392 | 139 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.05) Somatic: Yes Population frequencies: - MAF: 0.0000279 (gnomAD) Accession: NC_000014.9:g.20457018G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457018G>A Locations: - p.R139Q (NCI-TCGA:ENST00000557150) - p.Arg139Gln (Ensembl:ENST00000557150) - c.416G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs767250562 | 139 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20457017C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457017C>T Locations: - p.Arg139Trp (Ensembl:ENST00000557150) - c.415C>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1388774287 | 140 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457021T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457021T>G Locations: - p.Val140Gly (Ensembl:ENST00000557150) - c.419T>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs760996326 | 141 | I>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457024T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457024T>G Locations: - p.Ile141Ser (Ensembl:ENST00000557150) - c.422T>G (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs760996326 | 141 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20457024T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457024T>C Locations: - p.Ile141Thr (Ensembl:ENST00000557150) - c.422T>C (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1413851946 | 143 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.402) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457029G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457029G>A Locations: - p.Ala143Thr (Ensembl:ENST00000557150) - c.427G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs2139307604 | 144 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20457032G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457032G>T Locations: - p.Glu144Ter (Ensembl:ENST00000557150) - c.430G>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1594415301 | 144 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.817) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457033A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457033A>G Locations: - p.Glu144Gly (Ensembl:ENST00000557150) - c.431A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1252755891 | 145 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.44) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457035T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457035T>C Locations: - p.Phe145Leu (Ensembl:ENST00000557150) - c.433T>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs149168435 | 146 | D>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000014.9:g.20457040C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457040C>G Locations: - p.Asp146Glu (Ensembl:ENST00000557150) - c.438C>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1321124863 | 146 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000014.9:g.20457039A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457039A>G Locations: - p.Asp146Gly (Ensembl:ENST00000557150) - c.437A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881420449 | 146 | D>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000014.9:g.20457038G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457038G>C Locations: - p.Asp146His (Ensembl:ENST00000557150) - c.436G>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
COSV51658617 rs778999137 rs778999137,COSV51658617 | 147 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.09) Somatic: Yes Population frequencies: - MAF: 0.00001592 (gnomAD) Accession: NC_000014.9:g.20457042C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457042C>T Locations: - p.S147L (NCI-TCGA:ENST00000557150) - p.Ser147Leu (Ensembl:ENST00000557150) - c.440C>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs778999137 | 147 | S>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457042C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457042C>G Locations: - p.Ser147Trp (Ensembl:ENST00000557150) - c.440C>G (Ensembl:ENST00000557150) Source type: large scale study | |||||||
VAR_019790 COSV51657755 RCV001724940 RCV003976102 rs1130409 | 148 | D>E | APEX1-related disorder (ClinVar) | Benign (Ensembl, ClinVar) | UniProt cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.3756 (ClinVar) Accession: NC_000014.9:g.20456995T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20456995T>G Locations: - p.Asp148Glu (UniProt:P27695) - p.Asp131Glu (Ensembl:ENST00000557150) - c.393T>G (Ensembl:ENST00000557150) Disease association: - APEX1-related disorder Source type: mixed | |||||||
rs1881421959 | 149 | V>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.927) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20457048T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457048T>G Locations: - p.Val149Gly (Ensembl:ENST00000557150) - c.446T>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs780293860 | 149 | V>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20457047G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457047G>C Locations: - p.Val149Leu (Ensembl:ENST00000557150) - c.445G>C (Ensembl:ENST00000557150) Source type: large scale study | |||||||
COSV104370738 rs780293860 | 149 | V>M | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.681) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000014.9:g.20457047G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457047G>A Locations: - p.Val149Met (Ensembl:ENST00000557150) - c.445G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1349791106 | 151 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000014.9:g.20457053G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457053G>A Locations: - p.Val151Ile (Ensembl:ENST00000557150) - c.451G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1349791106 | 151 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457053G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457053G>C Locations: - p.Val151Leu (Ensembl:ENST00000557150) - c.451G>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881423668 | 152 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457057C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457057C>T Locations: - p.Thr152Ile (Ensembl:ENST00000557150) - c.455C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881423413 | 152 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20457056A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457056A>C Locations: - p.Thr152Pro (Ensembl:ENST00000557150) - c.454A>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1881423668 | 152 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457057C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457057C>G Locations: - p.Thr152Arg (Ensembl:ENST00000557150) - c.455C>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1007729095 | 153 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.751) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457059G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457059G>C Locations: - p.Ala153Pro (Ensembl:ENST00000557150) - c.457G>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1007729095 | 153 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000014.9:g.20457059G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457059G>A Locations: - p.Ala153Thr (Ensembl:ENST00000557150) - c.457G>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1881424690 | 153 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000014.9:g.20457060C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457060C>T Locations: - p.A153V (NCI-TCGA:ENST00000557150) - p.Ala153Val (Ensembl:ENST00000557150) - c.458C>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs770451855 | 154 | Y>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000014.9:g.20457064T>G Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457064T>G Locations: - p.Tyr154Ter (Ensembl:ENST00000557150) - c.462T>G (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs773873257 | 156 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457068C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457068C>T Locations: - p.Pro156Ser (Ensembl:ENST00000557150) - c.466C>T (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1017230745 | 157 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457073T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457073T>A Locations: - p.Asn157Lys (Ensembl:ENST00000557150) - c.471T>A (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs759400088 | 157 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000014.9:g.20457072A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457072A>G Locations: - p.Asn157Ser (Ensembl:ENST00000557150) - c.470A>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs775280571 | 159 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457078G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457078G>T Locations: - p.Gly159Val (Ensembl:ENST00000557150) - c.476G>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
COSV99164530 rs1239749291 | 160 | R>* | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000014.9:g.20457080C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457080C>T Locations: - p.Arg160Ter (Ensembl:ENST00000557150) - c.478C>T (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs760617856 | 160 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.559) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457081G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457081G>C Locations: - p.Arg160Pro (Ensembl:ENST00000557150) - c.479G>C (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs760617856 | 160 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000014.9:g.20457081G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457081G>A Locations: - p.Arg160Gln (Ensembl:ENST00000557150) - c.479G>A (Ensembl:ENST00000557150) Source type: large scale study | |||||||
rs1881427922 | 161 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457084G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457084G>C Locations: - p.Gly161Ala (Ensembl:ENST00000557150) - c.482G>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1436894209 | 161 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000014.9:g.20457083G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457083G>C Locations: - p.Gly161Arg (Ensembl:ENST00000557150) - c.481G>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1376455374 | 162 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457087T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457087T>C Locations: - p.Leu162Pro (Ensembl:ENST00000557150) - c.485T>C (Ensembl:ENST00000557150) Source type: large scale study Cross-references: | |||||||
rs1160957925 | 162 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000014.9:g.20457086C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 14q11.2 Genomic location: NC_000014.9:g.20457086C>G Locations: - p.Leu162Val (Ensembl:ENST00000557150) - c.484C>G (Ensembl:ENST00000557150) Source type: large scale study Cross-references: |