A0A0J9YXU2 · A0A0J9YXU2_HUMAN
- ProteinEukaryotic translation elongation factor 1 delta
- GeneEEF1D
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids109 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs900511787 | 1 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79355G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79355G>A Locations: - p.Pro1Leu (Ensembl:ENST00000634157) - c.2C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs900511787 | 1 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79355G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79355G>T Locations: - p.Pro1Gln (Ensembl:ENST00000634157) - c.2C>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1193211909 | 2 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79352C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79352C>G Locations: - p.Gly2Ala (Ensembl:ENST00000634157) - c.5G>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1189432996 | 4 | V>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.709) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79346A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79346A>T Locations: - p.Val4Glu (Ensembl:ENST00000634157) - c.11T>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1263557509 | 4 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79347C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79347C>A Locations: - p.Val4Leu (Ensembl:ENST00000634157) - c.10G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1263557509 | 4 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.477) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79347C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79347C>T Locations: - p.Val4Met (Ensembl:ENST00000634157) - c.10G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs376044833 | 5 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79343C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79343C>A Locations: - p.Arg5Leu (Ensembl:ENST00000634157) - c.14G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs1827399251 | 6 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: tolerated (0.12) Somatic: No Accession: NT_187571.1:g.79340A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79340A>C Locations: - p.Leu6Arg (Ensembl:ENST00000634157) - c.17T>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1215086033 | 7 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NT_187571.1:g.79338G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NT_187571.1:g.79338G>A Locations: - p.Gln7Ter (Ensembl:ENST00000634157) - c.19C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1215086033 | 7 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79338G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79338G>T Locations: - p.Gln7Lys (Ensembl:ENST00000634157) - c.19C>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1827397640 | 7 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79337T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79337T>A Locations: - p.Gln7Leu (Ensembl:ENST00000634157) - c.20A>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs764937282 | 9 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79331C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79331C>A Locations: - p.Arg9Leu (Ensembl:ENST00000634157) - c.26G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs1218842022 | 10 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.366) - SIFT: tolerated (0.12) Somatic: No Accession: NT_187571.1:g.79329C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79329C>A Locations: - p.Ala10Ser (Ensembl:ENST00000634157) - c.28G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs77499941 | 11 | G>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious (0.04) Somatic: No Accession: NT_187571.1:g.79325C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79325C>G Locations: - p.Gly11Ala (Ensembl:ENST00000634157) - c.32G>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs370644889 | 11 | G>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.657) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79326C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79326C>A Locations: - p.Gly11Cys (Ensembl:ENST00000634157) - c.31G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs77499941 | 11 | G>D | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.261) - SIFT: deleterious (0.02) Somatic: No Accession: NT_187571.1:g.79325C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79325C>T Locations: - p.Gly11Asp (Ensembl:ENST00000634157) - c.32G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1443282327 | 13 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79319G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79319G>T Locations: - p.Ala13Asp (Ensembl:ENST00000634157) - c.38C>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs761839312 | 14 | E>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NT_187571.1:g.79317C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NT_187571.1:g.79317C>A Locations: - p.Glu14Ter (Ensembl:ENST00000634157) - c.40G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs761839312 | 14 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.68) - SIFT: tolerated (0.07) Somatic: No Accession: NT_187571.1:g.79317C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79317C>T Locations: - p.Glu14Lys (Ensembl:ENST00000634157) - c.40G>A (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs1466293890 | 15 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: tolerated (0.05) Somatic: No Accession: NT_187571.1:g.79313C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79313C>T Locations: - p.Gly15Asp (Ensembl:ENST00000634157) - c.44G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs764523742 | 16 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.18) Somatic: No Accession: NT_187571.1:g.79311C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79311C>G Locations: - p.Ala16Pro (Ensembl:ENST00000634157) - c.46G>C (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs1465049607 | 16 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: tolerated (0.09) Somatic: No Accession: NT_187571.1:g.79310G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79310G>A Locations: - p.Ala16Val (Ensembl:ENST00000634157) - c.47C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs763452313 | 17 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.286) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187571.1:g.79307C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79307C>A Locations: - p.Arg17Leu (Ensembl:ENST00000634157) - c.50G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs1189634706 | 17 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79308G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79308G>A Locations: - p.Arg17Trp (Ensembl:ENST00000634157) - c.49C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs770036858 | 18 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.268) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187571.1:g.79304C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79304C>A Locations: - p.Arg18Leu (Ensembl:ENST00000634157) - c.53G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs750047054 | 19 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.31) Somatic: No Accession: NT_187571.1:g.79302C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79302C>T Locations: - p.Gly19Ser (Ensembl:ENST00000634157) - c.55G>A (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs1198922663 | 19 | G>V | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187571.1:g.79301C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79301C>A Locations: - p.Gly19Val (Ensembl:ENST00000634157) - c.56G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs965943882 | 20 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79298C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79298C>A Locations: - p.Arg20Leu (Ensembl:ENST00000634157) - c.59G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs2131113904 | 21 | R>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NT_187571.1:g.79296T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NT_187571.1:g.79296T>A Locations: - p.Arg21Ter (Ensembl:ENST00000634157) - c.61A>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs777427469 | 23 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: tolerated (0.05) Somatic: No Accession: NT_187571.1:g.79289C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79289C>A Locations: - p.Arg23Leu (Ensembl:ENST00000634157) - c.68G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs777427469 | 23 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.288) - SIFT: tolerated (0.06) Somatic: No Accession: NT_187571.1:g.79289C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79289C>T Locations: - p.Arg23Gln (Ensembl:ENST00000634157) - c.68G>A (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs748023571 | 24 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79286C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79286C>A Locations: - p.Arg24Leu (Ensembl:ENST00000634157) - c.71G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs2131112987 | 25 | G>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.453) - SIFT: deleterious (0.02) Somatic: No Accession: NT_187571.1:g.79284C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79284C>A Locations: - p.Gly25Cys (Ensembl:ENST00000634157) - c.73G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs570830694 | 25 | G>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.09) Somatic: No Accession: NT_187571.1:g.79283C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79283C>T Locations: - p.Gly25Asp (Ensembl:ENST00000634157) - c.74G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs552609579 | 26 | R>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: tolerated (0.21) Somatic: No Accession: NT_187571.1:g.79280C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79280C>T Locations: - p.Arg26His (Ensembl:ENST00000634157) - c.77G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs552609579 | 26 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79280C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79280C>A Locations: - p.Arg26Leu (Ensembl:ENST00000634157) - c.77G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1237114322 | 26 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187571.1:g.79281G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79281G>T Locations: - p.Arg26Ser (Ensembl:ENST00000634157) - c.76C>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1392195838 | 27 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.58) Somatic: No Accession: NT_187571.1:g.79277T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79277T>C Locations: - p.Asn27Ser (Ensembl:ENST00000634157) - c.80A>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1398984317 | 28 | I>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.52) Somatic: No Accession: NT_187571.1:g.79274A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79274A>C Locations: - p.Ile28Ser (Ensembl:ENST00000634157) - c.83T>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs764149671 | 29 | L>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.65) Somatic: No Accession: NT_187571.1:g.79271A>G Codon: TTA/TCA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79271A>G Locations: - p.Leu29Ser (Ensembl:ENST00000634157) - c.86T>C (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs530995002 | 29 | L>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NT_187571.1:g.79272A>C Codon: TTA/GTA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79272A>C Locations: - p.Leu29Val (Ensembl:ENST00000634157) - c.85T>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1437709742 | 30 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.18) Somatic: No Accession: NT_187571.1:g.79268C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79268C>T Locations: - p.Gly30Glu (Ensembl:ENST00000634157) - c.89G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1178650201 | 31 | N>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.29) - SIFT: deleterious (0.02) Somatic: No Accession: NT_187571.1:g.79266T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79266T>G Locations: - p.Asn31His (Ensembl:ENST00000634157) - c.91A>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1827359196 | 31 | N>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: tolerated (0.06) Somatic: No Accession: NT_187571.1:g.79265T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79265T>A Locations: - p.Asn31Ile (Ensembl:ENST00000634157) - c.92A>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs78886866 | 33 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.644) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79259C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79259C>A Locations: - p.Arg33Leu (Ensembl:ENST00000634157) - c.98G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs770641443 | 35 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187571.1:g.79253C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79253C>G Locations: - p.Gly35Ala (Ensembl:ENST00000634157) - c.104G>C (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs770641443 | 35 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.1) Somatic: No Accession: NT_187571.1:g.79253C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79253C>T Locations: - p.Gly35Glu (Ensembl:ENST00000634157) - c.104G>A (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs777069476 | 35 | G>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79254C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79254C>A Locations: - p.Gly35Trp (Ensembl:ENST00000634157) - c.103G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs1352073909 | 37 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: tolerated (0.19) Somatic: No Accession: NT_187571.1:g.79247C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79247C>A Locations: - p.Arg37Leu (Ensembl:ENST00000634157) - c.110G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1827351731 | 38 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.24) - SIFT: tolerated (0.19) Somatic: No Accession: NT_187571.1:g.79245G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79245G>C Locations: - p.Arg38Gly (Ensembl:ENST00000634157) - c.112C>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs369780574 | 38 | R>L | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: tolerated (0.13) Somatic: No Accession: NT_187571.1:g.79244C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79244C>A Locations: - p.Arg38Leu (Ensembl:ENST00000634157) - c.113G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs771685764 | 40 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.411) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79239C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79239C>A Locations: - p.Asp40Tyr (Ensembl:ENST00000634157) - c.118G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs778673794 | 41 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.12) Somatic: No Accession: NT_187571.1:g.79236C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79236C>G Locations: - p.Gly41Arg (Ensembl:ENST00000634157) - c.121G>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs754963743 | 42 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.2) Somatic: No Accession: NT_187571.1:g.79233C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79233C>T Locations: - p.Glu42Lys (Ensembl:ENST00000634157) - c.124G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs368294919 | 44 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187571.1:g.79226G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79226G>A Locations: - p.Pro44Leu (Ensembl:ENST00000634157) - c.131C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs368294919 | 44 | P>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.06) Somatic: No Accession: NT_187571.1:g.79226G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79226G>C Locations: - p.Pro44Arg (Ensembl:ENST00000634157) - c.131C>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1359883716 | 45 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.26) Somatic: No Accession: NT_187571.1:g.79224A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79224A>C Locations: - p.Ser45Ala (Ensembl:ENST00000634157) - c.133T>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs150347690 | 45 | S>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.06) Somatic: No Accession: NT_187571.1:g.79223G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79223G>C Locations: - p.Ser45Cys (Ensembl:ENST00000634157) - c.134C>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1827343180 | 47 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.32) Somatic: No Accession: NT_187571.1:g.79216C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79216C>G Locations: - p.Leu47Phe (Ensembl:ENST00000634157) - c.141G>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1237476576 | 48 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79214G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79214G>A Locations: - p.Pro48Leu (Ensembl:ENST00000634157) - c.143C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs751764088 | 50 | C>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.17) Somatic: No Accession: NT_187571.1:g.79208C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79208C>G Locations: - p.Cys50Ser (Ensembl:ENST00000634157) - c.149G>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1209286890 | 51 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.06) Somatic: No Accession: NT_187571.1:g.79205T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79205T>C Locations: - p.Tyr51Cys (Ensembl:ENST00000634157) - c.152A>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs752847462 | 56 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79191C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79191C>G Locations: - p.Asp56His (Ensembl:ENST00000634157) - c.166G>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1356526004 | 57 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.164) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79187G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79187G>T Locations: - p.Ala57Glu (Ensembl:ENST00000634157) - c.170C>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs369512896 | 57 | A>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.464) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79188C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79188C>G Locations: - p.Ala57Pro (Ensembl:ENST00000634157) - c.169G>C (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs760094178 | 59 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: tolerated (0.79) Somatic: No Accession: NT_187571.1:g.79182C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79182C>T Locations: - p.Ala59Thr (Ensembl:ENST00000634157) - c.175G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1352967326 | 60 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.32) Somatic: No Accession: NT_187571.1:g.79178G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79178G>A Locations: - p.Pro60Leu (Ensembl:ENST00000634157) - c.179C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1827332666 | 60 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.372) - SIFT: tolerated (0.1) Somatic: No Accession: NT_187571.1:g.79179G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79179G>A Locations: - p.Pro60Ser (Ensembl:ENST00000634157) - c.178C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs900300308 | 61 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NT_187571.1:g.79175C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NT_187571.1:g.79175C>T Locations: - p.Trp61Ter (Ensembl:ENST00000634157) - c.182G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs900300308 | 61 | W>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79175C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79175C>G Locations: - p.Trp61Ser (Ensembl:ENST00000634157) - c.182G>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1563978827 | 62 | L>I | Pathogenic (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.772) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79173G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79173G>T Locations: - p.Leu62Ile (Ensembl:ENST00000634157) - c.184C>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs140255838 | 63 | S>I | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.709) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79169C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79169C>A Locations: - p.Ser63Ile (Ensembl:ENST00000634157) - c.188G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs140255838 | 63 | S>T | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: tolerated (0.09) Somatic: No Accession: NT_187571.1:g.79169C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79169C>G Locations: - p.Ser63Thr (Ensembl:ENST00000634157) - c.188G>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs761170545 | 65 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79164G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79164G>T Locations: - p.Pro65Thr (Ensembl:ENST00000634157) - c.193C>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1310660020 | 66 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.275) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79160G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79160G>T Locations: - p.Ala66Asp (Ensembl:ENST00000634157) - c.197C>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs376925270 | 68 | D>Y | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79155C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79155C>A Locations: - p.Asp68Tyr (Ensembl:ENST00000634157) - c.202G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs911823647 | 69 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.25) Somatic: No Accession: NT_187571.1:g.79150G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79150G>T Locations: - p.Ser69Arg (Ensembl:ENST00000634157) - c.207C>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs146696971 | 70 | A>D | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79148G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79148G>T Locations: - p.Ala70Asp (Ensembl:ENST00000634157) - c.209C>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs761177817 | 70 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79149C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79149C>A Locations: - p.Ala70Ser (Ensembl:ENST00000634157) - c.208G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs373708948 | 71 | E>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NT_187571.1:g.79146C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NT_187571.1:g.79146C>A Locations: - p.Glu71Ter (Ensembl:ENST00000634157) - c.211G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs2131104466 | 71 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79144C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79144C>A Locations: - p.Glu71Asp (Ensembl:ENST00000634157) - c.213G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1477075485 | 73 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.652) - SIFT: deleterious (0.03) Somatic: No Accession: NT_187571.1:g.79140G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79140G>A Locations: - p.Arg73Cys (Ensembl:ENST00000634157) - c.217C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs749241280 | 73 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.164) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79139C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79139C>A Locations: - p.Arg73Leu (Ensembl:ENST00000634157) - c.218G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs780020773 | 74 | H>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.789) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79137G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79137G>C Locations: - p.His74Asp (Ensembl:ENST00000634157) - c.220C>G (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs1275828444 | 74 | H>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: deleterious (0.02) Somatic: No Accession: NT_187571.1:g.79136T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79136T>A Locations: - p.His74Leu (Ensembl:ENST00000634157) - c.221A>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs777926327 | 76 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.43) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79130G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79130G>T Locations: - p.Ala76Asp (Ensembl:ENST00000634157) - c.227C>A (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs745697956 | 76 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.133) - SIFT: deleterious (0.02) Somatic: No Accession: NT_187571.1:g.79131C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79131C>A Locations: - p.Ala76Ser (Ensembl:ENST00000634157) - c.226G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs745697956 | 76 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.05) Somatic: No Accession: NT_187571.1:g.79131C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79131C>T Locations: - p.Ala76Thr (Ensembl:ENST00000634157) - c.226G>A (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs777926327 | 76 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.133) - SIFT: deleterious (0.04) Somatic: No Accession: NT_187571.1:g.79130G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79130G>A Locations: - p.Ala76Val (Ensembl:ENST00000634157) - c.227C>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs758663825 | 77 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79127G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79127G>T Locations: - p.Ala77Asp (Ensembl:ENST00000634157) - c.230C>A (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs779048145 | 78 | E>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NT_187571.1:g.79125C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NT_187571.1:g.79125C>A Locations: - p.Glu78Ter (Ensembl:ENST00000634157) - c.232G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs2131103248 | 79 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79122C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79122C>G Locations: - p.Ala79Pro (Ensembl:ENST00000634157) - c.235G>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs755071102 | 79 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79121G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79121G>A Locations: - p.Ala79Val (Ensembl:ENST00000634157) - c.236C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1248458557 | 80 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79118A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79118A>C Locations: - p.Leu80Arg (Ensembl:ENST00000634157) - c.239T>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1329330886 | 81 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.789) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79115C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79115C>A Locations: - p.Arg81Leu (Ensembl:ENST00000634157) - c.242G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs767032952 | 81 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79116G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79116G>A Locations: - p.Arg81Trp (Ensembl:ENST00000634157) - c.241C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1421422361 | 82 | V>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79112A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79112A>T Locations: - p.Val82Glu (Ensembl:ENST00000634157) - c.245T>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs4874160 | 82 | V>L | 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.22) Somatic: No Accession: NT_187571.1:g.79113C>G, NT_187571.1:g.79113C>A Codon: GTG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79113C>G, NT_187571.1:g.79113C>A Locations: - p.Val82Leu (Ensembl:ENST00000634157) - c.244G>C (Ensembl:ENST00000634157) - c.244G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs1827302338 | 83 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79109G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79109G>T Locations: - p.Ala83Asp (Ensembl:ENST00000634157) - c.248C>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1168126577 | 83 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.523) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79110C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79110C>T Locations: - p.Ala83Thr (Ensembl:ENST00000634157) - c.247G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1827302338 | 83 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.748) - SIFT: deleterious (0.04) Somatic: No Accession: NT_187571.1:g.79109G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79109G>A Locations: - p.Ala83Val (Ensembl:ENST00000634157) - c.248C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1827301699 | 84 | W>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: tolerated (0.15) Somatic: No Accession: NT_187571.1:g.79107A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79107A>C Locations: - p.Trp84Gly (Ensembl:ENST00000634157) - c.250T>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1827301052 | 85 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.07) Somatic: No Accession: NT_187571.1:g.79103C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79103C>G Locations: - p.Cys85Ser (Ensembl:ENST00000634157) - c.254G>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1827300413 | 86 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: tolerated (0.15) Somatic: No Accession: NT_187571.1:g.79101G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79101G>A Locations: - p.Leu86Phe (Ensembl:ENST00000634157) - c.256C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs769878640 | 86 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.863) - SIFT: tolerated (0.17) Somatic: No Accession: NT_187571.1:g.79100A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79100A>C Locations: - p.Leu86Arg (Ensembl:ENST00000634157) - c.257T>G (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs762495668 | 87 | E>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NT_187571.1:g.79098C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NT_187571.1:g.79098C>A Locations: - p.Glu87Ter (Ensembl:ENST00000634157) - c.259G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs556804552 | 88 | A>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.671) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79094G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79094G>T Locations: - p.Ala88Asp (Ensembl:ENST00000634157) - c.263C>A (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs770699518 | 89 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79091G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79091G>T Locations: - p.Ala89Asp (Ensembl:ENST00000634157) - c.266C>A (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs780973451 | 89 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.11) Somatic: No Accession: NT_187571.1:g.79092C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79092C>G Locations: - p.Ala89Pro (Ensembl:ENST00000634157) - c.265G>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs755055642 | 93 | H>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: tolerated (0.07) Somatic: No Accession: NT_187571.1:g.79079T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79079T>A Locations: - p.His93Leu (Ensembl:ENST00000634157) - c.278A>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs146415627 | 93 | H>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: tolerated (0.12) Somatic: No Accession: NT_187571.1:g.79078G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79078G>C Locations: - p.His93Gln (Ensembl:ENST00000634157) - c.279C>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs780659136 | 94 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.275) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79076C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79076C>A Locations: - p.Arg94Leu (Ensembl:ENST00000634157) - c.281G>T (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs780659136 | 94 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: tolerated (0.08) Somatic: No Accession: NT_187571.1:g.79076C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79076C>T Locations: - p.Arg94Gln (Ensembl:ENST00000634157) - c.281G>A (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs1234871660 | 95 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79073G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79073G>A Locations: - p.Pro95Leu (Ensembl:ENST00000634157) - c.284C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs535290278 | 96 | G>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.35) Somatic: No Accession: NT_187571.1:g.79070C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79070C>G Locations: - p.Gly96Ala (Ensembl:ENST00000634157) - c.287G>C (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs142998821 | 96 | G>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.435) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79071C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79071C>A Locations: - p.Gly96Cys (Ensembl:ENST00000634157) - c.286G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs535290278 | 96 | G>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79070C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79070C>T Locations: - p.Gly96Asp (Ensembl:ENST00000634157) - c.287G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs142998821 | 96 | G>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.67) Somatic: No Accession: NT_187571.1:g.79071C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79071C>T Locations: - p.Gly96Ser (Ensembl:ENST00000634157) - c.286G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs535290278 | 96 | G>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious (0.02) Somatic: No Accession: NT_187571.1:g.79070C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79070C>A Locations: - p.Gly96Val (Ensembl:ENST00000634157) - c.287G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1214478745 | 97 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: deleterious (0.05) Somatic: No Accession: NT_187571.1:g.79067G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79067G>C Locations: - p.Pro97Arg (Ensembl:ENST00000634157) - c.290C>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs148582744 | 98 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious (0.01) Somatic: No Accession: NT_187571.1:g.79064C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79064C>A Locations: - p.Arg98Leu (Ensembl:ENST00000634157) - c.293G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1455053069 | 100 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0) Somatic: No Accession: NT_187571.1:g.79058C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79058C>T Locations: - p.Gly100Asp (Ensembl:ENST00000634157) - c.299G>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs2131098807 | 102 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NT_187571.1:g.79053A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79053A>T Locations: - p.Ser102Thr (Ensembl:ENST00000634157) - c.304T>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs746820089 | 103 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.56) Somatic: No Accession: NT_187571.1:g.79049A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79049A>G Locations: - p.Val103Ala (Ensembl:ENST00000634157) - c.308T>C (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs746820089 | 103 | V>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NT_187571.1:g.79049A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79049A>T Locations: - p.Val103Glu (Ensembl:ENST00000634157) - c.308T>A (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs552595948 | 103 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NT_187571.1:g.79050C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79050C>A Locations: - p.Val103Leu (Ensembl:ENST00000634157) - c.307G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1827277631 | 104 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NT_187571.1:g.79047A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79047A>T Locations: - p.Ser104Thr (Ensembl:ENST00000634157) - c.310T>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1827277002 | 104 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_187571.1:g.79046G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79046G>T Locations: - p.Ser104Tyr (Ensembl:ENST00000634157) - c.311C>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1827275737 | 105 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.721) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_187571.1:g.79044T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79044T>A Locations: - p.Ser105Cys (Ensembl:ENST00000634157) - c.313A>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs1279294377 | 107 | R>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_187571.1:g.79037C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79037C>A Locations: - p.Arg107Ile (Ensembl:ENST00000634157) - c.320G>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs780283454 | 107 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NT_187571.1:g.79036T>G Codon: AGA/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79036T>G Locations: - p.Arg107Ser (Ensembl:ENST00000634157) - c.321A>C (Ensembl:ENST00000634157) Source type: large scale study | |||||||
rs1587184232 | 108 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_187571.1:g.79034G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79034G>A Locations: - p.Pro108Leu (Ensembl:ENST00000634157) - c.323C>T (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs756325993 | 109 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NT_187571.1:g.79032T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_187571.1:g.79032T>C Locations: - p.Lys109Glu (Ensembl:ENST00000634157) - c.325A>G (Ensembl:ENST00000634157) Source type: large scale study Cross-references: | |||||||
rs746360746 | 110 | *>K | ExAC gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NT_187571.1:g.79029A>T Codon: TAG/AAG Consequence type: stop lost Cytogenetic band: Genomic location: NT_187571.1:g.79029A>T Locations: - p.Ter110LysextTer51 (Ensembl:ENST00000634157) - c.328T>A (Ensembl:ENST00000634157) Source type: large scale study Cross-references: |