J3KTJ6 · J3KTJ6_HUMAN
- ProteinGamma-soluble NSF attachment protein
- GeneNAPG
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids177 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1239660931 | 2 | S>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000018.10:g.10526579C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526579C>A Locations: - p.Ser2Ter (Ensembl:ENST00000582472) - c.5C>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1426207806 | 4 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000018.10:g.10526585G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526585G>C Locations: - p.Gly4Ala (Ensembl:ENST00000582472) - c.11G>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1426207806 | 4 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000018.10:g.10526585G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526585G>A Locations: - p.Gly4Glu (Ensembl:ENST00000582472) - c.11G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1311363671 | 4 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000018.10:g.10526584G>C, NC_000018.10:g.10526584G>A Codon: GGG/CGG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526584G>C, NC_000018.10:g.10526584G>A Locations: - p.Gly4Arg (Ensembl:ENST00000582472) - c.10G>C (Ensembl:ENST00000582472) - c.10G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031817075 | 5 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000018.10:g.10526588A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526588A>G Locations: - p.Glu5Gly (Ensembl:ENST00000582472) - c.14A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031817143 | 6 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000018.10:g.10526590C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526590C>T Locations: - p.Gln6Ter (Ensembl:ENST00000582472) - c.16C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1598407973 | 6 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000018.10:g.10526591A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526591A>G Locations: - p.Gln6Arg (Ensembl:ENST00000582472) - c.17A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1466375244 | 7 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000018.10:g.10526594A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526594A>G Locations: - p.His7Arg (Ensembl:ENST00000582472) - c.20A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031817238 | 7 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000018.10:g.10526593C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526593C>T Locations: - p.His7Tyr (Ensembl:ENST00000582472) - c.19C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1164432882 | 8 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000018.10:g.10526596C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526596C>T Locations: - p.Arg8Cys (Ensembl:ENST00000582472) - c.22C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1348216463 | 10 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000018.10:g.10526602G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526602G>C Locations: - p.Val10Leu (Ensembl:ENST00000582472) - c.28G>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1398274615 | 13 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000018.10:g.10526611C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526611C>T Locations: - p.His13Tyr (Ensembl:ENST00000582472) - c.37C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs952117777 | 14 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526614C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526614C>T Locations: - p.Arg14Cys (Ensembl:ENST00000582472) - c.40C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1281152270 | 14 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.72) Somatic: No Accession: NC_000018.10:g.10526615G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526615G>A Locations: - p.Arg14His (Ensembl:ENST00000582472) - c.41G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs915961611 | 16 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000018.10:g.10526620A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526620A>G Locations: - p.Arg16Gly (Ensembl:ENST00000582472) - c.46A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031817929 | 18 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000018.10:g.10526626G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526626G>C Locations: - p.Ala18Pro (Ensembl:ENST00000582472) - c.52G>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1380457492 | 19 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000018.10:g.10526630C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526630C>T Locations: - p.Pro19Leu (Ensembl:ENST00000582472) - c.56C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs950128350 | 19 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000018.10:g.10526629C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526629C>T Locations: - p.Pro19Ser (Ensembl:ENST00000582472) - c.55C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031818417 | 20 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000018.10:g.10526633G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526633G>T Locations: - p.Cys20Phe (Ensembl:ENST00000582472) - c.59G>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031818538 | 22 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000018.10:g.10526639A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526639A>G Locations: - p.Glu22Gly (Ensembl:ENST00000582472) - c.65A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031818594 | 23 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000018.10:g.10526641G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526641G>C Locations: - p.Gly23Arg (Ensembl:ENST00000582472) - c.67G>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1257712795 | 24 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526645C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526645C>T Locations: - p.Thr24Ile (Ensembl:ENST00000582472) - c.71C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs545163791 | 24 | T>P | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526644A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526644A>C Locations: - p.Thr24Pro (Ensembl:ENST00000582472) - c.70A>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs568266897 | 25 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526648T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526648T>C Locations: - p.Ile25Thr (Ensembl:ENST00000582472) - c.74T>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031818985 | 28 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000018.10:g.10526657C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526657C>T Locations: - p.Pro28Leu (Ensembl:ENST00000582472) - c.83C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031818882 | 28 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000018.10:g.10526656C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526656C>T Locations: - p.Pro28Ser (Ensembl:ENST00000582472) - c.82C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031819095 | 29 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000018.10:g.10526659C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526659C>T Locations: - p.Gln29Ter (Ensembl:ENST00000582472) - c.85C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs554290648 | 29 | Q>P | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526660A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526660A>C Locations: - p.Gln29Pro (Ensembl:ENST00000582472) - c.86A>C (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs1354168109 | 30 | K>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000018.10:g.10526662A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526662A>T Locations: - p.Lys30Ter (Ensembl:ENST00000582472) - c.88A>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031819434 | 31 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526665C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526665C>G Locations: - p.Leu31Val (Ensembl:ENST00000582472) - c.91C>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs934871846 | 32 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526668C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526668C>T Locations: - p.Leu32Phe (Ensembl:ENST00000582472) - c.94C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs934871846 | 32 | L>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526668C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526668C>A Locations: - p.Leu32Ile (Ensembl:ENST00000582472) - c.94C>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031819717 | 33 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526672G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526672G>A Locations: - p.Gly33Asp (Ensembl:ENST00000582472) - c.98G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031819655 | 33 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526671G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526671G>A Locations: - p.Gly33Ser (Ensembl:ENST00000582472) - c.97G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs921324743 | 35 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.76) Somatic: No Accession: NC_000018.10:g.10526677C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526677C>G Locations: - p.Pro35Ala (Ensembl:ENST00000582472) - c.103C>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs921324743 | 35 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000018.10:g.10526677C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526677C>T Locations: - p.Pro35Ser (Ensembl:ENST00000582472) - c.103C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1374721064 | 37 | S>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000018.10:g.10526684C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526684C>A Locations: - p.Ser37Ter (Ensembl:ENST00000582472) - c.110C>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1374721064 | 37 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000018.10:g.10526684C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526684C>T Locations: - p.Ser37Leu (Ensembl:ENST00000582472) - c.110C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1055090424 | 38 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526687C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526687C>T Locations: - p.Ser38Phe (Ensembl:ENST00000582472) - c.113C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031820038 | 38 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000018.10:g.10526686T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526686T>C Locations: - p.Ser38Pro (Ensembl:ENST00000582472) - c.112T>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031820157 | 39 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526690G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526690G>T Locations: - p.Gly39Val (Ensembl:ENST00000582472) - c.116G>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031820226 | 40 | I>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526693T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526693T>G Locations: - p.Ile40Ser (Ensembl:ENST00000582472) - c.119T>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1323006182 | 42 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000018.10:g.10526699T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526699T>C Locations: - p.Leu42Pro (Ensembl:ENST00000582472) - c.125T>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1361651304 | 43 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526702C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526702C>T Locations: - p.Ser43Phe (Ensembl:ENST00000582472) - c.128C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031820470 | 43 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000018.10:g.10526701T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526701T>C Locations: - p.Ser43Pro (Ensembl:ENST00000582472) - c.127T>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1598408000 | 44 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526705T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526705T>C Locations: - p.Leu44Pro (Ensembl:ENST00000582472) - c.131T>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs572303624 | 44 | L>V | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.71) Somatic: No Accession: NC_000018.10:g.10526704C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526704C>G Locations: - p.Leu44Val (Ensembl:ENST00000582472) - c.130C>G (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs1598408001 | 45 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000018.10:g.10526709G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526709G>A Locations: - p.Trp45Ter (Ensembl:ENST00000582472) - c.135G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031820910 | 46 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000018.10:g.10526710G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526710G>T Locations: - p.Ala46Ser (Ensembl:ENST00000582472) - c.136G>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031820910 | 46 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000018.10:g.10526710G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526710G>A Locations: - p.Ala46Thr (Ensembl:ENST00000582472) - c.136G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031820991 | 46 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000018.10:g.10526711C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526711C>T Locations: - p.Ala46Val (Ensembl:ENST00000582472) - c.137C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1369860239 | 47 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000018.10:g.10526714G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526714G>C Locations: - p.Gly47Ala (Ensembl:ENST00000582472) - c.140G>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1259616691 | 48 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000018.10:g.10526717C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526717C>T Locations: - p.Thr48Ile (Ensembl:ENST00000582472) - c.143C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1259616691 | 48 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: NC_000018.10:g.10526717C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526717C>G Locations: - p.Thr48Ser (Ensembl:ENST00000582472) - c.143C>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs932753970 | 50 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000018.10:g.10526722C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526722C>T Locations: - p.Leu50Phe (Ensembl:ENST00000582472) - c.148C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1598408010 | 51 | R>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000018.10:g.10526726G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526726G>A Locations: - p.Arg51His (Ensembl:ENST00000582472) - c.152G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1598408010 | 51 | R>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526726G>C Codon: CGT/CCT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526726G>C Locations: - p.Arg51Pro (Ensembl:ENST00000582472) - c.152G>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1048838206 | 52 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526729C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526729C>T Locations: - p.Ser52Leu (Ensembl:ENST00000582472) - c.155C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031821614 | 53 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526732C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526732C>T Locations: - p.Ser53Phe (Ensembl:ENST00000582472) - c.158C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1265838956 | 54 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000018.10:g.10526735T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526735T>C Locations: - p.Phe54Ser (Ensembl:ENST00000582472) - c.161T>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs888438173 | 55 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000018.10:g.10526738A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526738A>T Locations: - p.Asp55Val (Ensembl:ENST00000582472) - c.164A>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031821785 | 57 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.34) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000018.10:g.10526743T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526743T>C Locations: - p.Tyr57His (Ensembl:ENST00000582472) - c.169T>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs888819963 | 58 | V>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526747T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526747T>A Locations: - p.Val58Asp (Ensembl:ENST00000582472) - c.173T>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs888819963 | 58 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526747T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526747T>G Locations: - p.Val58Gly (Ensembl:ENST00000582472) - c.173T>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1285087759 | 59 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000018.10:g.10526749C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526749C>G Locations: - p.Leu59Val (Ensembl:ENST00000582472) - c.175C>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1181498915 | 60 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000018.10:g.10526753C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526753C>T Locations: - p.Pro60Leu (Ensembl:ENST00000582472) - c.179C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1181498915 | 60 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000018.10:g.10526753C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526753C>G Locations: - p.Pro60Arg (Ensembl:ENST00000582472) - c.179C>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1250246348 | 60 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.76) Somatic: No Accession: NC_000018.10:g.10526752C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526752C>T Locations: - p.Pro60Ser (Ensembl:ENST00000582472) - c.178C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1411975406 | 61 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000018.10:g.10526756C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526756C>T Locations: - p.Pro61Leu (Ensembl:ENST00000582472) - c.182C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1348746917 | 61 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000018.10:g.10526755C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526755C>T Locations: - p.Pro61Ser (Ensembl:ENST00000582472) - c.181C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1008650345 | 62 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.19) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000018.10:g.10526758C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526758C>A Locations: - p.Leu62Met (Ensembl:ENST00000582472) - c.184C>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1008650345 | 62 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000018.10:g.10526758C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526758C>G Locations: - p.Leu62Val (Ensembl:ENST00000582472) - c.184C>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1311205334 | 64 | H>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.557) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000018.10:g.10526765A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526765A>T Locations: - p.His64Leu (Ensembl:ENST00000582472) - c.191A>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031822437 | 64 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000018.10:g.10526764C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10526764C>T Locations: - p.His64Tyr (Ensembl:ENST00000582472) - c.190C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1308914922 | 66 | K>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10530775A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530775A>C Locations: - p.Lys66Thr (Ensembl:ENST00000582472) - c.197A>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1380423916 | 68 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10530780G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530780G>T Locations: - p.Gly68Cys (Ensembl:ENST00000582472) - c.202G>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031913212 | 68 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10530781G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530781G>A Locations: - p.Gly68Asp (Ensembl:ENST00000582472) - c.203G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
COSV100529948 rs2031913212 | 68 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000018.10:g.10530781G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530781G>T Locations: - p.G68V (NCI-TCGA:ENST00000582472) - p.Gly68Val (Ensembl:ENST00000582472) - c.203G>T (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs496207 | 70 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.175) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000018.10:g.10530788A>T Codon: TTA/TTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530788A>T Locations: - p.Leu70Phe (Ensembl:ENST00000582472) - c.210A>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1567887714 | 71 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.521) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000018.10:g.10530790A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530790A>G Locations: - p.Lys71Arg (Ensembl:ENST00000582472) - c.212A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs746150592 | 72 | W>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10530792T>A Codon: TGG/AGG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530792T>A Locations: - p.Trp72Arg (Ensembl:ENST00000582472) - c.214T>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2143093443 | 74 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10530799C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530799C>A Locations: - p.Pro74Gln (Ensembl:ENST00000582472) - c.221C>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs754699922 | 75 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10530802A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530802A>G Locations: - p.Asp75Gly (Ensembl:ENST00000582472) - c.224A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1254316748 | 76 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10530804T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530804T>C Locations: - p.Tyr76His (Ensembl:ENST00000582472) - c.226T>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1305724581 | 77 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.886) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10530808A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530808A>C Locations: - p.Asp77Ala (Ensembl:ENST00000582472) - c.230A>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1567887743 | 78 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000018.10:g.10530811G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530811G>A Locations: - p.Ser78Asn (Ensembl:ENST00000582472) - c.233G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs772000737 | 80 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10530817C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530817C>A Locations: - p.Ala80Asp (Ensembl:ENST00000582472) - c.239C>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
COSV100529785 rs747977052 | 80 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.832) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000009192 (gnomAD) Accession: NC_000018.10:g.10530816G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530816G>A Locations: - p.A80T (NCI-TCGA:ENST00000582472) - p.Ala80Thr (Ensembl:ENST00000582472) - c.238G>A (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs2031914070 | 81 | S>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000018.10:g.10530819T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10530819T>G Locations: - p.Ser81Ala (Ensembl:ENST00000582472) - c.241T>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1469043720 | 87 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.486) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000018.10:g.10532711C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532711C>G Locations: - p.Ala87Gly (Ensembl:ENST00000582472) - c.260C>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs374058363 | 88 | V>F | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10532713G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532713G>T Locations: - p.Val88Phe (Ensembl:ENST00000582472) - c.262G>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs374058363 | 88 | V>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000018.10:g.10532713G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532713G>A Locations: - p.Val88Ile (Ensembl:ENST00000582472) - c.262G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
VAR_052027 rs2228300 | 92 | P>S | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000018.10:g.10539777C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539777C>T Locations: - p.Pro92Ser (UniProt:Q99747) - p.Pro137Ser (Ensembl:ENST00000582472) - c.409C>T (Ensembl:ENST00000582472) Source type: mixed Cross-references: | |||||||
rs778503849 | 94 | K>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000018.10:g.10532731A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532731A>T Locations: - p.Lys94Ter (Ensembl:ENST00000582472) - c.280A>T (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs778503849 | 94 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10532731A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532731A>G Locations: - p.Lys94Glu (Ensembl:ENST00000582472) - c.280A>G (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs1567888517 | 94 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000018.10:g.10532733A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532733A>T Locations: - p.Lys94Asn (Ensembl:ENST00000582472) - c.282A>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1281550342 | 94 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000018.10:g.10532732A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532732A>G Locations: - p.Lys94Arg (Ensembl:ENST00000582472) - c.281A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1345120671 | 95 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000018.10:g.10532736G>T, NC_000018.10:g.10532736G>C Codon: CAG/CAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532736G>T, NC_000018.10:g.10532736G>C Locations: - p.Gln95His (Ensembl:ENST00000582472) - c.285G>T (Ensembl:ENST00000582472) - c.285G>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1224460192 | 96 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000018.10:g.10532739T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532739T>G Locations: - p.Phe96Leu (Ensembl:ENST00000582472) - c.288T>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs976812048 | 97 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.613) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000018.10:g.10532741A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532741A>G Locations: - p.Glu97Gly (Ensembl:ENST00000582472) - c.290A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1374038878 | 99 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.772) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000018.10:g.10532746G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532746G>A Locations: - p.Ala99Thr (Ensembl:ENST00000582472) - c.295G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031953853 | 100 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.76) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10532749A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532749A>C Locations: - p.Lys100Gln (Ensembl:ENST00000582472) - c.298A>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs868770047 | 102 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.555) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10532756C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532756C>T Locations: - p.Ala102Val (Ensembl:ENST00000582472) - c.305C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031954064 | 103 | C>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000018.10:g.10532760C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532760C>A Locations: - p.Cys103Ter (Ensembl:ENST00000582472) - c.309C>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1259621209 | 103 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000018.10:g.10532758T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532758T>C Locations: - p.Cys103Arg (Ensembl:ENST00000582472) - c.307T>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031954064 | 103 | C>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000018.10:g.10532760C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532760C>G Locations: - p.Cys103Trp (Ensembl:ENST00000582472) - c.309C>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs758279210 | 105 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (1) Somatic: No Accession: NC_000018.10:g.10532765G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532765G>A Locations: - p.Arg105Lys (Ensembl:ENST00000582472) - c.314G>A (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs1195225389 | 108 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000018.10:g.10532773G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532773G>A Locations: - p.Val108Ile (Ensembl:ENST00000582472) - c.322G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1266280744 | 109 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10532777C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532777C>A Locations: - p.Ala109Asp (Ensembl:ENST00000582472) - c.326C>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs777662420 | 110 | H>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.655) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10532779C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532779C>A Locations: - p.His110Asn (Ensembl:ENST00000582472) - c.328C>A (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs2031954623 | 110 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.529) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10532780A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532780A>G Locations: - p.His110Arg (Ensembl:ENST00000582472) - c.329A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs777662420 | 110 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000018.10:g.10532779C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532779C>T Locations: - p.His110Tyr (Ensembl:ENST00000582472) - c.328C>T (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs1309330650 | 112 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.526) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000018.10:g.10532785A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532785A>G Locations: - p.Asn112Asp (Ensembl:ENST00000582472) - c.334A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1309330650 | 112 | N>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10532785A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532785A>C Locations: - p.Asn112His (Ensembl:ENST00000582472) - c.334A>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs549735502 | 112 | N>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000018.10:g.10532786A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532786A>C Locations: - p.Asn112Thr (Ensembl:ENST00000582472) - c.335A>C (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs746984473 | 113 | N>D | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10532788A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532788A>G Locations: - p.Asn113Asp (Ensembl:ENST00000582472) - c.337A>G (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs770419103 | 113 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.288) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000018.10:g.10532789A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532789A>G Locations: - p.Asn113Ser (Ensembl:ENST00000582472) - c.338A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs866941274 | 114 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000018.10:g.10532791A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532791A>G Locations: - p.Arg114Gly (Ensembl:ENST00000582472) - c.340A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs745457865 | 114 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000018.10:g.10532792G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532792G>A Locations: - p.Arg114Lys (Ensembl:ENST00000582472) - c.341G>A (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs745457865 | 114 | R>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.511) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10532792G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532792G>C Locations: - p.Arg114Thr (Ensembl:ENST00000582472) - c.341G>C (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs2031956020 | 115 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000018.10:g.10532794G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532794G>T Locations: - p.Ala115Ser (Ensembl:ENST00000582472) - c.343G>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
COSV59796723 rs916066691 | 115 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00002752 (gnomAD) Accession: NC_000018.10:g.10532795C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10532795C>T Locations: - p.A115V (NCI-TCGA:ENST00000582472) - p.Ala115Val (Ensembl:ENST00000582472) - c.344C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031972844 | 117 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10533541T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10533541T>C Locations: - p.Phe117Ser (Ensembl:ENST00000582472) - c.350T>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs986211356 | 121 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000018.10:g.10533553A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10533553A>G Locations: - p.Lys121Arg (Ensembl:ENST00000582472) - c.362A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2031992241 | 123 | Y>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000018.10:g.10534471dup Codon: TAT/TAAT Consequence type: stop gained Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10534471dup Locations: - p.Tyr123Ter (Ensembl:ENST00000582472) - c.368dup (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs369364555 | 123 | Y>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000018.10:g.10534472T>A Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10534472T>A Locations: - p.Tyr123Ter (Ensembl:ENST00000582472) - c.369T>A (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs556231385 | 123 | Y>C | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10534471A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10534471A>G Locations: - p.Tyr123Cys (Ensembl:ENST00000582472) - c.368A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs750377920 | 124 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10534473G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10534473G>A Locations: - p.Glu124Lys (Ensembl:ENST00000582472) - c.370G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1329961540 | 125 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.417) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10534477A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10534477A>G Locations: - p.Gln125Arg (Ensembl:ENST00000582472) - c.374A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs755620120 | 126 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000018.10:g.10534480C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10534480C>T Locations: - p.Ala126Val (Ensembl:ENST00000582472) - c.377C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1201546945 | 127 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000018.10:g.10534483G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10534483G>C Locations: - p.Gly127Ala (Ensembl:ENST00000582472) - c.380G>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
COSV59798506 rs1201546945 | 127 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10534483G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10534483G>A Locations: - p.G127E (NCI-TCGA:ENST00000582472) - p.Gly127Glu (Ensembl:ENST00000582472) - c.380G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1242414224 | 129 | M>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000018.10:g.10534488A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10534488A>T Locations: - p.Met129Leu (Ensembl:ENST00000582472) - c.385A>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1242414224 | 129 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.364) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000018.10:g.10534488A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10534488A>G Locations: - p.Met129Val (Ensembl:ENST00000582472) - c.385A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1196689554 | 133 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000018.10:g.10539767G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539767G>A Locations: - p.Met133Ile (Ensembl:ENST00000582472) - c.399G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs756066810 | 133 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000018.10:g.10539766T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539766T>C Locations: - p.Met133Thr (Ensembl:ENST00000582472) - c.398T>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1364799856 | 133 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10539765A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539765A>G Locations: - p.Met133Val (Ensembl:ENST00000582472) - c.397A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs538664915 | 134 | Q>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000018.10:g.10539768C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539768C>G Locations: - p.Gln134Glu (Ensembl:ENST00000582472) - c.400C>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs538664915 | 134 | Q>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000018.10:g.10539768C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539768C>A Locations: - p.Gln134Lys (Ensembl:ENST00000582472) - c.400C>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs201039776 | 140 | V>I | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000018.10:g.10539786G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539786G>A Locations: - p.Val140Ile (Ensembl:ENST00000582472) - c.418G>A (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs1598411070 | 141 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000018.10:g.10539789C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539789C>G Locations: - p.Gln141Glu (Ensembl:ENST00000582472) - c.421C>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2032110117 | 143 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.555) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000018.10:g.10539797T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539797T>G Locations: - p.Ile143Met (Ensembl:ENST00000582472) - c.429T>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs747839759 | 144 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.623) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10539799A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539799A>C Locations: - p.Glu144Ala (Ensembl:ENST00000582472) - c.431A>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2032110188 | 144 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000018.10:g.10539798G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539798G>C Locations: - p.E144Q (NCI-TCGA:ENST00000582472) - p.Glu144Gln (Ensembl:ENST00000582472) - c.430G>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs747839759 | 144 | E>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10539799A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539799A>T Locations: - p.Glu144Val (Ensembl:ENST00000582472) - c.431A>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1486069639 | 146 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.843) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10539805C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539805C>G Locations: - p.Ala146Gly (Ensembl:ENST00000582472) - c.437C>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1282397170 | 146 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10539804G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539804G>A Locations: - p.Ala146Thr (Ensembl:ENST00000582472) - c.436G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1259989042 | 148 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000018.10:g.10539812G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539812G>A Locations: - p.Met148Ile (Ensembl:ENST00000582472) - c.444G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1331527211 | 149 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000018.10:g.10539815G>A, NC_000018.10:g.10539815G>C Codon: ATG/ATA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539815G>A, NC_000018.10:g.10539815G>C Locations: - p.Met149Ile (Ensembl:ENST00000582472) - c.447G>A (Ensembl:ENST00000582472) - c.447G>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1235159835 | 150 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10539817A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539817A>G Locations: - p.Tyr150Cys (Ensembl:ENST00000582472) - c.449A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1235159835 | 150 | Y>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000018.10:g.10539817A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539817A>T Locations: - p.Tyr150Phe (Ensembl:ENST00000582472) - c.449A>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs540194440 | 151 | L>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000018.10:g.10539819C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539819C>G Locations: - p.Leu151Val (Ensembl:ENST00000582472) - c.451C>G (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs1598411083 | 153 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10539826A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539826A>C Locations: - p.Asn153Thr (Ensembl:ENST00000582472) - c.458A>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2143120531 | 154 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10539829G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539829G>A Locations: - p.Gly154Asp (Ensembl:ENST00000582472) - c.461G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs776654594 | 154 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10539828G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539828G>A Locations: - p.Gly154Ser (Ensembl:ENST00000582472) - c.460G>A (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs2143120531 | 154 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10539829G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539829G>T Locations: - p.Gly154Val (Ensembl:ENST00000582472) - c.461G>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1598411086 | 155 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10539831A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539831A>C Locations: - p.Thr155Pro (Ensembl:ENST00000582472) - c.463A>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1268473091 | 158 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000018.10:g.10539840A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539840A>G Locations: - p.Thr158Ala (Ensembl:ENST00000582472) - c.472A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2032111851 | 159 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10539843G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539843G>C Locations: - p.Ala159Pro (Ensembl:ENST00000582472) - c.475G>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1453622559 | 160 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10539846G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539846G>A Locations: - p.Ala160Thr (Ensembl:ENST00000582472) - c.478G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2032112136 | 160 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.73) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000018.10:g.10539847C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539847C>T Locations: - p.Ala160Val (Ensembl:ENST00000582472) - c.479C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2032112209 | 161 | M>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000018.10:g.10539849A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539849A>T Locations: - p.Met161Leu (Ensembl:ENST00000582472) - c.481A>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs376946681 | 162 | A>T | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000018.10:g.10539852G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539852G>A Locations: - p.Ala162Thr (Ensembl:ENST00000582472) - c.484G>A (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs775659634 | 162 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000018.10:g.10539853C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539853C>T Locations: - p.Ala162Val (Ensembl:ENST00000582472) - c.485C>T (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs2032112582 | 164 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10539859A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539859A>G Locations: - p.Glu164Gly (Ensembl:ENST00000582472) - c.491A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs763151146 | 165 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000018.10:g.10539861C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539861C>T Locations: - p.Arg165Ter (Ensembl:ENST00000582472) - c.493C>T (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs763151146 | 165 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10539861C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539861C>G Locations: - p.Arg165Gly (Ensembl:ENST00000582472) - c.493C>G (Ensembl:ENST00000582472) Source type: large scale study | |||||||
rs1384476965 | 165 | R>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000018.10:g.10539862G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539862G>A Locations: - p.Arg165Gln (Ensembl:ENST00000582472) - c.494G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1567891305 | 166 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000018.10:g.10539865C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539865C>G Locations: - p.Ala166Gly (Ensembl:ENST00000582472) - c.497C>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1158695722 | 167 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.216) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10539867G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539867G>A Locations: - p.Gly167Arg (Ensembl:ENST00000582472) - c.499G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs771889463 | 168 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10539871A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539871A>C Locations: - p.Lys168Thr (Ensembl:ENST00000582472) - c.503A>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs922514402 | 170 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000018.10:g.10539994A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539994A>G Locations: - p.Ile170Met (Ensembl:ENST00000582472) - c.510A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1190999019 | 170 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000018.10:g.10539993T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539993T>C Locations: - p.Ile170Thr (Ensembl:ENST00000582472) - c.509T>C (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1333215778 | 170 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000018.10:g.10539992A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539992A>G Locations: - p.Ile170Val (Ensembl:ENST00000582472) - c.508A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs759601297 | 172 | N>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.454) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000018.10:g.10539999A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10539999A>T Locations: - p.Asn172Ile (Ensembl:ENST00000582472) - c.515A>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs2032116909 | 174 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.383) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000018.10:g.10540005A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10540005A>G Locations: - p.Asp174Gly (Ensembl:ENST00000582472) - c.521A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1313555297 | 174 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000018.10:g.10540004G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10540004G>A Locations: - p.Asp174Asn (Ensembl:ENST00000582472) - c.520G>A (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1225607137 | 175 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000018.10:g.10540008C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10540008C>T Locations: - p.Pro175Leu (Ensembl:ENST00000582472) - c.524C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs764779608 | 175 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.10540007C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10540007C>T Locations: - p.Pro175Ser (Ensembl:ENST00000582472) - c.523C>T (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs762630023 | 176 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.10540011A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10540011A>G Locations: - p.Glu176Gly (Ensembl:ENST00000582472) - c.527A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: | |||||||
rs1318970554 | 177 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000018.10:g.10540014A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 18p11.22 Genomic location: NC_000018.10:g.10540014A>G Locations: - p.Lys177Arg (Ensembl:ENST00000582472) - c.530A>G (Ensembl:ENST00000582472) Source type: large scale study Cross-references: |