A0A0G2JJT9 · A0A0G2JJT9_HUMAN
- ProteinValyl-tRNA synthetase 1
- GeneVARS1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids174 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs762827814 | 2 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.09) Somatic: No Accession: NT_167247.2:g.3137103A>T, NT_167244.2:g.3127825A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3137103A>T, NT_167244.2:g.3127825A>T Locations: - p.Ser2Thr (Ensembl:ENST00000419375) - c.4T>A (Ensembl:ENST00000419375) - p.Ser2Thr (Ensembl:ENST00000417430) - c.4T>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs770966756 | 2 | S>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.606) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127824G>T, NT_167247.2:g.3137102G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127824G>T, NT_167247.2:g.3137102G>T Locations: - p.Ser2Tyr (Ensembl:ENST00000417430) - c.5C>A (Ensembl:ENST00000417430) - p.Ser2Tyr (Ensembl:ENST00000419375) - c.5C>A (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs1404806038 | 3 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.06) Somatic: No Accession: NT_167247.2:g.3137100T>A, NT_167244.2:g.3127822T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3137100T>A, NT_167244.2:g.3127822T>A Locations: - p.Thr3Ser (Ensembl:ENST00000419375) - c.7A>T (Ensembl:ENST00000419375) - p.Thr3Ser (Ensembl:ENST00000417430) - c.7A>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1037768081 | 7 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127809G>T, NT_167247.2:g.3137087G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127809G>T, NT_167247.2:g.3137087G>T Locations: - p.Ser7Tyr (Ensembl:ENST00000417430) - c.20C>A (Ensembl:ENST00000417430) - p.Ser7Tyr (Ensembl:ENST00000419375) - c.20C>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1326348522 | 10 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167247.2:g.3137079G>A, NT_167244.2:g.3127801G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3137079G>A, NT_167244.2:g.3127801G>A Locations: - p.Pro10Ser (Ensembl:ENST00000419375) - c.28C>T (Ensembl:ENST00000419375) - p.Pro10Ser (Ensembl:ENST00000417430) - c.28C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1367383060 | 14 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.247) - SIFT: deleterious (0.05) Somatic: No Accession: NT_167247.2:g.3137066G>A, NT_167244.2:g.3127788G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3137066G>A, NT_167244.2:g.3127788G>A Locations: - p.Pro14Leu (Ensembl:ENST00000419375) - c.41C>T (Ensembl:ENST00000419375) - p.Pro14Leu (Ensembl:ENST00000417430) - c.41C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1192320909 | 17 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.05) Somatic: No Accession: NT_167247.2:g.3137057C>A, NT_167244.2:g.3127779C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3137057C>A, NT_167244.2:g.3127779C>A Locations: - p.Arg17Leu (Ensembl:ENST00000419375) - c.50G>T (Ensembl:ENST00000419375) - p.Arg17Leu (Ensembl:ENST00000417430) - c.50G>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs779373536 | 19 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127774G>A, NT_167247.2:g.3137052G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127774G>A, NT_167247.2:g.3137052G>A Locations: - p.Leu19Phe (Ensembl:ENST00000417430) - c.55C>T (Ensembl:ENST00000417430) - p.Leu19Phe (Ensembl:ENST00000419375) - c.55C>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1276820074 | 20 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127769T>C, NT_167247.2:g.3137047T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127769T>C, NT_167247.2:g.3137047T>C Locations: - p.Ile20Met (Ensembl:ENST00000417430) - c.60A>G (Ensembl:ENST00000417430) - p.Ile20Met (Ensembl:ENST00000419375) - c.60A>G (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs769195581 | 20 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NT_167244.2:g.3127771T>C, NT_167247.2:g.3137049T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127771T>C, NT_167247.2:g.3137049T>C Locations: - p.Ile20Val (Ensembl:ENST00000417430) - c.58A>G (Ensembl:ENST00000417430) - p.Ile20Val (Ensembl:ENST00000419375) - c.58A>G (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs907668494 | 22 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127765C>T, NT_167247.2:g.3137043C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127765C>T, NT_167247.2:g.3137043C>T Locations: - p.Ala22Thr (Ensembl:ENST00000417430) - c.64G>A (Ensembl:ENST00000417430) - p.Ala22Thr (Ensembl:ENST00000419375) - c.64G>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs185990098 | 23 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.247) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167244.2:g.3127761C>A, NT_167247.2:g.3137039C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127761C>A, NT_167247.2:g.3137039C>A Locations: - p.Arg23Leu (Ensembl:ENST00000417430) - c.68G>T (Ensembl:ENST00000417430) - p.Arg23Leu (Ensembl:ENST00000419375) - c.68G>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1814189573 | 25 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.02) Somatic: No Accession: NT_167247.2:g.3137034C>G, NT_167244.2:g.3127756C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3137034C>G, NT_167244.2:g.3127756C>G Locations: - p.Gly25Arg (Ensembl:ENST00000419375) - c.73G>C (Ensembl:ENST00000419375) - p.Gly25Arg (Ensembl:ENST00000417430) - c.73G>C (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs755570137 | 27 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.83) Somatic: No Accession: NT_167244.2:g.3127750C>A, NT_167247.2:g.3137028C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127750C>A, NT_167247.2:g.3137028C>A Locations: - p.Ala27Ser (Ensembl:ENST00000417430) - c.79G>T (Ensembl:ENST00000417430) - p.Ala27Ser (Ensembl:ENST00000419375) - c.79G>T (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs755570137 | 27 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated (0.2) Somatic: No Accession: NT_167247.2:g.3137028C>T, NT_167244.2:g.3127750C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3137028C>T, NT_167244.2:g.3127750C>T Locations: - p.Ala27Thr (Ensembl:ENST00000419375) - c.79G>A (Ensembl:ENST00000419375) - p.Ala27Thr (Ensembl:ENST00000417430) - c.79G>A (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs1359951081 | 28 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.19) Somatic: No Accession: NT_167247.2:g.3137025C>T, NT_167244.2:g.3127747C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3137025C>T, NT_167244.2:g.3127747C>T Locations: - p.Gly28Arg (Ensembl:ENST00000419375) - c.82G>A (Ensembl:ENST00000419375) - p.Gly28Arg (Ensembl:ENST00000417430) - c.82G>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1219563423 | 29 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.32) Somatic: No Accession: NT_167247.2:g.3137022C>T, NT_167244.2:g.3127744C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3137022C>T, NT_167244.2:g.3127744C>T Locations: - p.Glu29Lys (Ensembl:ENST00000419375) - c.85G>A (Ensembl:ENST00000419375) - p.Glu29Lys (Ensembl:ENST00000417430) - c.85G>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs749886962 | 31 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127737G>T, NT_167247.2:g.3137015G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127737G>T, NT_167247.2:g.3137015G>T Locations: - p.Pro31His (Ensembl:ENST00000417430) - c.92C>A (Ensembl:ENST00000417430) - p.Pro31His (Ensembl:ENST00000419375) - c.92C>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs750141597 | 32 | G>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NT_167244.2:g.3127735C>A, NT_167247.2:g.3137013C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NT_167244.2:g.3127735C>A, NT_167247.2:g.3137013C>A Locations: - p.Gly32Ter (Ensembl:ENST00000417430) - c.94G>T (Ensembl:ENST00000417430) - p.Gly32Ter (Ensembl:ENST00000419375) - c.94G>T (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs756891676 | 32 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.65) Somatic: No Accession: NT_167244.2:g.3127734C>T, NT_167247.2:g.3137012C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127734C>T, NT_167247.2:g.3137012C>T Locations: - p.Gly32Glu (Ensembl:ENST00000417430) - c.95G>A (Ensembl:ENST00000417430) - p.Gly32Glu (Ensembl:ENST00000419375) - c.95G>A (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs756891676 | 32 | G>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.07) Somatic: No Accession: NT_167244.2:g.3127734C>A, NT_167247.2:g.3137012C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127734C>A, NT_167247.2:g.3137012C>A Locations: - p.Gly32Val (Ensembl:ENST00000417430) - c.95G>T (Ensembl:ENST00000417430) - p.Gly32Val (Ensembl:ENST00000419375) - c.95G>T (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs1365942842 | 33 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NT_167247.2:g.3137008C>G, NT_167244.2:g.3127730C>G Codon: TGG/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3137008C>G, NT_167244.2:g.3127730C>G Locations: - p.Trp33Cys (Ensembl:ENST00000419375) - c.99G>C (Ensembl:ENST00000419375) - p.Trp33Cys (Ensembl:ENST00000417430) - c.99G>C (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs751190443 | 36 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.02) Somatic: No Accession: NT_167244.2:g.3127722G>T, NT_167247.2:g.3137000G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127722G>T, NT_167247.2:g.3137000G>T Locations: - p.Ala36Asp (Ensembl:ENST00000417430) - c.107C>A (Ensembl:ENST00000417430) - p.Ala36Asp (Ensembl:ENST00000419375) - c.107C>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1177315765 | 38 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NT_167244.2:g.3127716G>T, NT_167247.2:g.3136994G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127716G>T, NT_167247.2:g.3136994G>T Locations: - p.Pro38His (Ensembl:ENST00000417430) - c.113C>A (Ensembl:ENST00000417430) - p.Pro38His (Ensembl:ENST00000419375) - c.113C>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs763852673 | 38 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.08) Somatic: No Accession: NT_167247.2:g.3136995G>A, NT_167244.2:g.3127717G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136995G>A, NT_167244.2:g.3127717G>A Locations: - p.Pro38Ser (Ensembl:ENST00000419375) - c.112C>T (Ensembl:ENST00000419375) - p.Pro38Ser (Ensembl:ENST00000417430) - c.112C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs763852673 | 38 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.29) Somatic: No Accession: NT_167247.2:g.3136995G>T, NT_167244.2:g.3127717G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136995G>T, NT_167244.2:g.3127717G>T Locations: - p.Pro38Thr (Ensembl:ENST00000419375) - c.112C>A (Ensembl:ENST00000419375) - p.Pro38Thr (Ensembl:ENST00000417430) - c.112C>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1814184829 | 39 | R>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.467) - SIFT: tolerated (0.06) Somatic: No Accession: NT_167244.2:g.3127713C>A, NT_167247.2:g.3136991C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127713C>A, NT_167247.2:g.3136991C>A Locations: - p.Arg39Leu (Ensembl:ENST00000417430) - c.116G>T (Ensembl:ENST00000417430) - p.Arg39Leu (Ensembl:ENST00000419375) - c.116G>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs762774819 | 40 | I>S | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3136988A>C, NT_167244.2:g.3127710A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136988A>C, NT_167244.2:g.3127710A>C Locations: - p.Ile40Ser (Ensembl:ENST00000419375) - c.119T>G (Ensembl:ENST00000419375) - p.Ile40Ser (Ensembl:ENST00000417430) - c.119T>G (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1416491797 | 43 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NT_167247.2:g.3136979T>A, NT_167244.2:g.3127701T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136979T>A, NT_167244.2:g.3127701T>A Locations: - p.Gln43Leu (Ensembl:ENST00000419375) - c.128A>T (Ensembl:ENST00000419375) - p.Gln43Leu (Ensembl:ENST00000417430) - c.128A>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1172492958 | 45 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3136973G>A, NT_167244.2:g.3127695G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136973G>A, NT_167244.2:g.3127695G>A Locations: - p.Pro45Leu (Ensembl:ENST00000419375) - c.134C>T (Ensembl:ENST00000419375) - p.Pro45Leu (Ensembl:ENST00000417430) - c.134C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1423767395 | 45 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127696G>A, NT_167247.2:g.3136974G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127696G>A, NT_167247.2:g.3136974G>A Locations: - p.Pro45Ser (Ensembl:ENST00000417430) - c.133C>T (Ensembl:ENST00000417430) - p.Pro45Ser (Ensembl:ENST00000419375) - c.133C>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1248033757 | 46 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: tolerated (0.1) Somatic: No Accession: NT_167247.2:g.3136970G>C, NT_167244.2:g.3127692G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136970G>C, NT_167244.2:g.3127692G>C Locations: - p.Pro46Arg (Ensembl:ENST00000419375) - c.137C>G (Ensembl:ENST00000419375) - p.Pro46Arg (Ensembl:ENST00000417430) - c.137C>G (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs764852749 | 46 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: tolerated (0.37) Somatic: No Accession: NT_167244.2:g.3127693G>A, NT_167247.2:g.3136971G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127693G>A, NT_167247.2:g.3136971G>A Locations: - p.Pro46Ser (Ensembl:ENST00000417430) - c.136C>T (Ensembl:ENST00000417430) - p.Pro46Ser (Ensembl:ENST00000419375) - c.136C>T (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs1190134828 | 47 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NT_167244.2:g.3127690T>A, NT_167247.2:g.3136968T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127690T>A, NT_167247.2:g.3136968T>A Locations: - p.Thr47Ser (Ensembl:ENST00000417430) - c.139A>T (Ensembl:ENST00000417430) - p.Thr47Ser (Ensembl:ENST00000419375) - c.139A>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs765215584 | 49 | R>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NT_167247.2:g.3136962T>C, NT_167244.2:g.3127684T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136962T>C, NT_167244.2:g.3127684T>C Locations: - p.Arg49Gly (Ensembl:ENST00000419375) - c.145A>G (Ensembl:ENST00000419375) - p.Arg49Gly (Ensembl:ENST00000417430) - c.145A>G (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1241125024 | 49 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.11) Somatic: No Accession: NT_167247.2:g.3136961C>G, NT_167244.2:g.3127683C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136961C>G, NT_167244.2:g.3127683C>G Locations: - p.Arg49Thr (Ensembl:ENST00000419375) - c.146G>C (Ensembl:ENST00000419375) - p.Arg49Thr (Ensembl:ENST00000417430) - c.146G>C (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs67600122 | 51 | S>T | Likely benign (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.4) Somatic: No Accession: NT_167244.2:g.3127677C>G, NT_167247.2:g.3136955C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127677C>G, NT_167247.2:g.3136955C>G Locations: - p.Ser51Thr (Ensembl:ENST00000417430) - c.152G>C (Ensembl:ENST00000417430) - p.Ser51Thr (Ensembl:ENST00000419375) - c.152G>C (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs2753960 | 51 | S>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.4) Somatic: No Accession: NT_167244.2:g.3127677C>G, NT_167247.2:g.3136955C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127677C>G, NT_167247.2:g.3136955C>G Locations: - p.Ser51Thr (Ensembl:ENST00000417430) - c.152G>C (Ensembl:ENST00000417430) - p.Ser51Thr (Ensembl:ENST00000419375) - c.152G>C (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs2151437736 | 52 | F>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.09) Somatic: No Accession: NT_167244.2:g.3127675A>C, NT_167247.2:g.3136953A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127675A>C, NT_167247.2:g.3136953A>C Locations: - p.Phe52Val (Ensembl:ENST00000417430) - c.154T>G (Ensembl:ENST00000417430) - p.Phe52Val (Ensembl:ENST00000419375) - c.154T>G (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1814177420 | 54 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: tolerated (0.05) Somatic: No Accession: NT_167247.2:g.3136946G>T, NT_167244.2:g.3127668G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136946G>T, NT_167244.2:g.3127668G>T Locations: - p.Pro54Gln (Ensembl:ENST00000419375) - c.161C>A (Ensembl:ENST00000419375) - p.Pro54Gln (Ensembl:ENST00000417430) - c.161C>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1299860251 | 54 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.06) Somatic: No Accession: NT_167244.2:g.3127669G>A, NT_167247.2:g.3136947G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127669G>A, NT_167247.2:g.3136947G>A Locations: - p.Pro54Ser (Ensembl:ENST00000417430) - c.160C>T (Ensembl:ENST00000417430) - p.Pro54Ser (Ensembl:ENST00000419375) - c.160C>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs769140435 | 55 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.157) - SIFT: tolerated (0.26) Somatic: No Accession: NT_167244.2:g.3127666G>A, NT_167247.2:g.3136944G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127666G>A, NT_167247.2:g.3136944G>A Locations: - p.Pro55Ser (Ensembl:ENST00000417430) - c.163C>T (Ensembl:ENST00000417430) - p.Pro55Ser (Ensembl:ENST00000419375) - c.163C>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs780575596 | 56 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.606) - SIFT: deleterious (0.03) Somatic: No Accession: NT_167244.2:g.3127662C>T, NT_167247.2:g.3136940C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127662C>T, NT_167247.2:g.3136940C>T Locations: - p.Arg56His (Ensembl:ENST00000417430) - c.167G>A (Ensembl:ENST00000417430) - p.Arg56His (Ensembl:ENST00000419375) - c.167G>A (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs780575596 | 56 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167244.2:g.3127662C>A, NT_167247.2:g.3136940C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127662C>A, NT_167247.2:g.3136940C>A Locations: - p.Arg56Leu (Ensembl:ENST00000417430) - c.167G>T (Ensembl:ENST00000417430) - p.Arg56Leu (Ensembl:ENST00000419375) - c.167G>T (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs1450707485 | 57 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167244.2:g.3127660G>T, NT_167247.2:g.3136938G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127660G>T, NT_167247.2:g.3136938G>T Locations: - p.Leu57Met (Ensembl:ENST00000417430) - c.169C>A (Ensembl:ENST00000417430) - p.Leu57Met (Ensembl:ENST00000419375) - c.169C>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs770264754 | 57 | L>R | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127659A>C, NT_167247.2:g.3136937A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127659A>C, NT_167247.2:g.3136937A>C Locations: - p.Leu57Arg (Ensembl:ENST00000417430) - c.170T>G (Ensembl:ENST00000417430) - p.Leu57Arg (Ensembl:ENST00000419375) - c.170T>G (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs746390677 | 59 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.08) Somatic: No Accession: NT_167247.2:g.3136931G>A, NT_167244.2:g.3127653G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136931G>A, NT_167244.2:g.3127653G>A Locations: - p.Ala59Val (Ensembl:ENST00000419375) - c.176C>T (Ensembl:ENST00000419375) - p.Ala59Val (Ensembl:ENST00000417430) - c.176C>T (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs746631390 | 61 | E>A | Pathogenic (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167247.2:g.3136925T>G, NT_167244.2:g.3127647T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136925T>G, NT_167244.2:g.3127647T>G Locations: - p.Glu61Ala (Ensembl:ENST00000419375) - c.182A>C (Ensembl:ENST00000419375) - p.Glu61Ala (Ensembl:ENST00000417430) - c.182A>C (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs756765837 | 61 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3136926C>T, NT_167244.2:g.3127648C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136926C>T, NT_167244.2:g.3127648C>T Locations: - p.Glu61Lys (Ensembl:ENST00000419375) - c.181G>A (Ensembl:ENST00000419375) - p.Glu61Lys (Ensembl:ENST00000417430) - c.181G>A (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs746631390 | 61 | E>V | Pathogenic (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.1) Somatic: No Accession: NT_167247.2:g.3136925T>A, NT_167244.2:g.3127647T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136925T>A, NT_167244.2:g.3127647T>A Locations: - p.Glu61Val (Ensembl:ENST00000419375) - c.182A>T (Ensembl:ENST00000419375) - p.Glu61Val (Ensembl:ENST00000417430) - c.182A>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs777468321 | 62 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NT_167247.2:g.3136922T>C, NT_167244.2:g.3127644T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136922T>C, NT_167244.2:g.3127644T>C Locations: - p.Gln62Arg (Ensembl:ENST00000419375) - c.185A>G (Ensembl:ENST00000419375) - p.Gln62Arg (Ensembl:ENST00000417430) - c.185A>G (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1025185109 | 63 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious (0.03) Somatic: No Accession: NT_167244.2:g.3127641C>A, NT_167247.2:g.3136919C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127641C>A, NT_167247.2:g.3136919C>A Locations: - p.Gly63Val (Ensembl:ENST00000417430) - c.188G>T (Ensembl:ENST00000417430) - p.Gly63Val (Ensembl:ENST00000419375) - c.188G>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1452580302 | 64 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.11) Somatic: No Accession: NT_167247.2:g.3136916G>A, NT_167244.2:g.3127638G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136916G>A, NT_167244.2:g.3127638G>A Locations: - p.Pro64Leu (Ensembl:ENST00000419375) - c.191C>T (Ensembl:ENST00000419375) - p.Pro64Leu (Ensembl:ENST00000417430) - c.191C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs539891444 | 64 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.37) Somatic: No Accession: NT_167244.2:g.3127639G>A, NT_167247.2:g.3136917G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127639G>A, NT_167247.2:g.3136917G>A Locations: - p.Pro64Ser (Ensembl:ENST00000417430) - c.190C>T (Ensembl:ENST00000417430) - p.Pro64Ser (Ensembl:ENST00000419375) - c.190C>T (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs765047867 | 65 | G>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127636C>A, NT_167247.2:g.3136914C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127636C>A, NT_167247.2:g.3136914C>A Locations: - p.Gly65Cys (Ensembl:ENST00000417430) - c.193G>T (Ensembl:ENST00000417430) - p.Gly65Cys (Ensembl:ENST00000419375) - c.193G>T (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs1425326475 | 67 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.13) Somatic: No Accession: NT_167247.2:g.3136908G>T, NT_167244.2:g.3127630G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136908G>T, NT_167244.2:g.3127630G>T Locations: - p.Leu67Ile (Ensembl:ENST00000419375) - c.199C>A (Ensembl:ENST00000419375) - p.Leu67Ile (Ensembl:ENST00000417430) - c.199C>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs754897269 | 68 | W>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.43) Somatic: No Accession: NT_167247.2:g.3136904C>G, NT_167244.2:g.3127626C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136904C>G, NT_167244.2:g.3127626C>G Locations: - p.Trp68Ser (Ensembl:ENST00000419375) - c.203G>C (Ensembl:ENST00000419375) - p.Trp68Ser (Ensembl:ENST00000417430) - c.203G>C (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs1814169882 | 70 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: tolerated (0.18) Somatic: No Accession: NT_167244.2:g.3127619C>A, NT_167247.2:g.3136897C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127619C>A, NT_167247.2:g.3136897C>A Locations: - p.Trp70Cys (Ensembl:ENST00000417430) - c.210G>T (Ensembl:ENST00000417430) - p.Trp70Cys (Ensembl:ENST00000419375) - c.210G>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1458105465 | 70 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: tolerated (0.35) Somatic: No Accession: NT_167247.2:g.3136899A>T, NT_167244.2:g.3127621A>G, NT_167244.2:g.3127621A>T, NT_167247.2:g.3136899A>G Codon: TGG/AGG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136899A>T, NT_167244.2:g.3127621A>G, NT_167244.2:g.3127621A>T, NT_167247.2:g.3136899A>G Locations: - p.Trp70Arg (Ensembl:ENST00000419375) - c.208T>A (Ensembl:ENST00000419375) - p.Trp70Arg (Ensembl:ENST00000417430) - c.208T>C (Ensembl:ENST00000417430) - c.208T>A (Ensembl:ENST00000417430) - c.208T>C (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs753770365 | 71 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127618C>T, NT_167247.2:g.3136896C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127618C>T, NT_167247.2:g.3136896C>T Locations: - p.Gly71Arg (Ensembl:ENST00000417430) - c.211G>A (Ensembl:ENST00000417430) - p.Gly71Arg (Ensembl:ENST00000419375) - c.211G>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1014417541 | 72 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.1) Somatic: No Accession: NT_167247.2:g.3136893C>T, NT_167244.2:g.3127615C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136893C>T, NT_167244.2:g.3127615C>T Locations: - p.Ala72Thr (Ensembl:ENST00000419375) - c.214G>A (Ensembl:ENST00000419375) - p.Ala72Thr (Ensembl:ENST00000417430) - c.214G>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs767605949 | 73 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.77) Somatic: No Accession: NT_167244.2:g.3127612T>A, NT_167247.2:g.3136890T>A Codon: ACG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127612T>A, NT_167247.2:g.3136890T>A Locations: - p.Thr73Ser (Ensembl:ENST00000417430) - c.217A>T (Ensembl:ENST00000417430) - p.Thr73Ser (Ensembl:ENST00000419375) - c.217A>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1207589918 | 74 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.649) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3136887C>T, NT_167244.2:g.3127609C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136887C>T, NT_167244.2:g.3127609C>T Locations: - p.Ala74Thr (Ensembl:ENST00000419375) - c.220G>A (Ensembl:ENST00000419375) - p.Ala74Thr (Ensembl:ENST00000417430) - c.220G>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1306980268 | 77 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NT_167247.2:g.3136878G>A, NT_167244.2:g.3127600G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NT_167247.2:g.3136878G>A, NT_167244.2:g.3127600G>A Locations: - p.Gln77Ter (Ensembl:ENST00000419375) - c.229C>T (Ensembl:ENST00000419375) - p.Gln77Ter (Ensembl:ENST00000417430) - c.229C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs896015956 | 79 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127594G>T, NT_167247.2:g.3136872G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127594G>T, NT_167247.2:g.3136872G>T Locations: - p.Leu79Met (Ensembl:ENST00000417430) - c.235C>A (Ensembl:ENST00000417430) - p.Leu79Met (Ensembl:ENST00000419375) - c.235C>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1814163800 | 85 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.18) Somatic: No Accession: NT_167247.2:g.3136853C>T, NT_167244.2:g.3127575C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136853C>T, NT_167244.2:g.3127575C>T Locations: - p.Gly85Glu (Ensembl:ENST00000419375) - c.254G>A (Ensembl:ENST00000419375) - p.Gly85Glu (Ensembl:ENST00000417430) - c.254G>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs200951596 | 85 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NT_167244.2:g.3127576C>T, NT_167247.2:g.3136854C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127576C>T, NT_167247.2:g.3136854C>T Locations: - p.Gly85Arg (Ensembl:ENST00000417430) - c.253G>A (Ensembl:ENST00000417430) - p.Gly85Arg (Ensembl:ENST00000419375) - c.253G>A (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs1814163569 | 86 | G>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.53) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127573C>A, NT_167247.2:g.3136851C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127573C>A, NT_167247.2:g.3136851C>A Locations: - p.Gly86Cys (Ensembl:ENST00000417430) - c.256G>T (Ensembl:ENST00000417430) - p.Gly86Cys (Ensembl:ENST00000419375) - c.256G>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1377474027 | 86 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.214) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127572C>T, NT_167247.2:g.3136850C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127572C>T, NT_167247.2:g.3136850C>T Locations: - p.Gly86Asp (Ensembl:ENST00000417430) - c.257G>A (Ensembl:ENST00000417430) - p.Gly86Asp (Ensembl:ENST00000419375) - c.257G>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs774706077 | 87 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (1) Somatic: No Accession: NT_167244.2:g.3127570G>A, NT_167247.2:g.3136848G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127570G>A, NT_167247.2:g.3136848G>A Locations: - p.Pro87Ser (Ensembl:ENST00000417430) - c.259C>T (Ensembl:ENST00000417430) - p.Pro87Ser (Ensembl:ENST00000419375) - c.259C>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1460035112 | 89 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.81) Somatic: No Accession: NT_167244.2:g.3127564C>T, NT_167247.2:g.3136842C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127564C>T, NT_167247.2:g.3136842C>T Locations: - p.Gly89Ser (Ensembl:ENST00000417430) - c.265G>A (Ensembl:ENST00000417430) - p.Gly89Ser (Ensembl:ENST00000419375) - c.265G>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1814161401 | 90 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: deleterious (0.04) Somatic: No Accession: NT_167244.2:g.3127561T>A, NT_167247.2:g.3136839T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127561T>A, NT_167247.2:g.3136839T>A Locations: - p.Ser90Cys (Ensembl:ENST00000417430) - c.268A>T (Ensembl:ENST00000417430) - p.Ser90Cys (Ensembl:ENST00000419375) - c.268A>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs763269784 | 91 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167244.2:g.3127558G>A, NT_167247.2:g.3136836G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127558G>A, NT_167247.2:g.3136836G>A Locations: - p.Arg91Trp (Ensembl:ENST00000417430) - c.271C>T (Ensembl:ENST00000417430) - p.Arg91Trp (Ensembl:ENST00000419375) - c.271C>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs749829576 | 92 | A>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NT_167247.2:g.3136832G>T, NT_167244.2:g.3127554G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136832G>T, NT_167244.2:g.3127554G>T Locations: - p.Ala92Glu (Ensembl:ENST00000419375) - c.275C>A (Ensembl:ENST00000419375) - p.Ala92Glu (Ensembl:ENST00000417430) - c.275C>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs775953448 | 92 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.03) Somatic: No Accession: NT_167247.2:g.3136833C>T, NT_167244.2:g.3127555C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136833C>T, NT_167244.2:g.3127555C>T Locations: - p.Ala92Thr (Ensembl:ENST00000419375) - c.274G>A (Ensembl:ENST00000419375) - p.Ala92Thr (Ensembl:ENST00000417430) - c.274G>A (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs1415186153 | 95 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.382) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3136824G>A, NT_167244.2:g.3127546G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136824G>A, NT_167244.2:g.3127546G>A Locations: - p.Leu95Phe (Ensembl:ENST00000419375) - c.283C>T (Ensembl:ENST00000419375) - p.Leu95Phe (Ensembl:ENST00000417430) - c.283C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs770468949 | 95 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.175) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3136823A>C, NT_167244.2:g.3127545A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136823A>C, NT_167244.2:g.3127545A>C Locations: - p.Leu95Arg (Ensembl:ENST00000419375) - c.284T>G (Ensembl:ENST00000419375) - p.Leu95Arg (Ensembl:ENST00000417430) - c.284T>G (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs746580164 | 99 | W>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.461) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127534A>T, NT_167247.2:g.3136812A>T Codon: TGG/AGG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127534A>T, NT_167247.2:g.3136812A>T Locations: - p.Trp99Arg (Ensembl:ENST00000417430) - c.295T>A (Ensembl:ENST00000417430) - p.Trp99Arg (Ensembl:ENST00000419375) - c.295T>A (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs777278429 | 100 | V>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127531C>A, NT_167247.2:g.3136809C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127531C>A, NT_167247.2:g.3136809C>A Locations: - p.Val100Phe (Ensembl:ENST00000417430) - c.298G>T (Ensembl:ENST00000417430) - p.Val100Phe (Ensembl:ENST00000419375) - c.298G>T (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs777278429 | 100 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NT_167247.2:g.3136809C>G, NT_167244.2:g.3127531C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136809C>G, NT_167244.2:g.3127531C>G Locations: - p.Val100Leu (Ensembl:ENST00000419375) - c.298G>C (Ensembl:ENST00000419375) - p.Val100Leu (Ensembl:ENST00000417430) - c.298G>C (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs1814158751 | 101 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.544) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3136806T>A, NT_167244.2:g.3127528T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136806T>A, NT_167244.2:g.3127528T>A Locations: - p.Ser101Cys (Ensembl:ENST00000419375) - c.301A>T (Ensembl:ENST00000419375) - p.Ser101Cys (Ensembl:ENST00000417430) - c.301A>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1814158089 | 103 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127521G>T, NT_167247.2:g.3136799G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127521G>T, NT_167247.2:g.3136799G>T Locations: - p.Ala103Asp (Ensembl:ENST00000417430) - c.308C>A (Ensembl:ENST00000417430) - p.Ala103Asp (Ensembl:ENST00000419375) - c.308C>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1562317390 | 103 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.408) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3136800C>T, NT_167244.2:g.3127522C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136800C>T, NT_167244.2:g.3127522C>T Locations: - p.Ala103Thr (Ensembl:ENST00000419375) - c.307G>A (Ensembl:ENST00000419375) - p.Ala103Thr (Ensembl:ENST00000417430) - c.307G>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1266067934 | 106 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127513C>T, NT_167247.2:g.3136791C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127513C>T, NT_167247.2:g.3136791C>T Locations: - p.Glu106Lys (Ensembl:ENST00000417430) - c.316G>A (Ensembl:ENST00000417430) - p.Glu106Lys (Ensembl:ENST00000419375) - c.316G>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1814156854 | 109 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.904) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3136781G>C, NT_167244.2:g.3127503G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136781G>C, NT_167244.2:g.3127503G>C Locations: - p.Pro109Arg (Ensembl:ENST00000419375) - c.326C>G (Ensembl:ENST00000419375) - p.Pro109Arg (Ensembl:ENST00000417430) - c.326C>G (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1814156128 | 110 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.706) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167247.2:g.3136778G>T, NT_167244.2:g.3127500G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136778G>T, NT_167244.2:g.3127500G>T Locations: - p.Ala110Asp (Ensembl:ENST00000419375) - c.329C>A (Ensembl:ENST00000419375) - p.Ala110Asp (Ensembl:ENST00000417430) - c.329C>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs778749570 | 110 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: tolerated (0.38) Somatic: No Accession: NT_167244.2:g.3127501C>G, NT_167247.2:g.3136779C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127501C>G, NT_167247.2:g.3136779C>G Locations: - p.Ala110Pro (Ensembl:ENST00000417430) - c.328G>C (Ensembl:ENST00000417430) - p.Ala110Pro (Ensembl:ENST00000419375) - c.328G>C (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs940733337 | 111 | A>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.765) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127497G>T, NT_167247.2:g.3136775G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127497G>T, NT_167247.2:g.3136775G>T Locations: - p.Ala111Asp (Ensembl:ENST00000417430) - c.332C>A (Ensembl:ENST00000417430) - p.Ala111Asp (Ensembl:ENST00000419375) - c.332C>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs753813335 | 114 | A>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: tolerated (0.08) Somatic: No Accession: NT_167244.2:g.3127488G>T, NT_167247.2:g.3136766G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127488G>T, NT_167247.2:g.3136766G>T Locations: - p.Ala114Glu (Ensembl:ENST00000417430) - c.341C>A (Ensembl:ENST00000417430) - p.Ala114Glu (Ensembl:ENST00000419375) - c.341C>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1405248208 | 116 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.639) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3127483G>T, NT_167247.2:g.3136761G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127483G>T, NT_167247.2:g.3136761G>T Locations: - p.Leu116Met (Ensembl:ENST00000417430) - c.346C>A (Ensembl:ENST00000417430) - p.Leu116Met (Ensembl:ENST00000419375) - c.346C>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs980564718 | 122 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.42) Somatic: No Accession: NT_167247.2:g.3136742C>A, NT_167244.2:g.3127464C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136742C>A, NT_167244.2:g.3127464C>A Locations: - p.Arg122Leu (Ensembl:ENST00000419375) - c.365G>T (Ensembl:ENST00000419375) - p.Arg122Leu (Ensembl:ENST00000417430) - c.365G>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs980564718 | 122 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: tolerated (0.69) Somatic: No Accession: NT_167247.2:g.3136742C>T, NT_167244.2:g.3127464C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136742C>T, NT_167244.2:g.3127464C>T Locations: - p.Arg122Gln (Ensembl:ENST00000419375) - c.365G>A (Ensembl:ENST00000419375) - p.Arg122Gln (Ensembl:ENST00000417430) - c.365G>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1814151594 | 125 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NT_167244.2:g.3127456C>T, NT_167247.2:g.3136734C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127456C>T, NT_167247.2:g.3136734C>T Locations: - p.Ala125Thr (Ensembl:ENST00000417430) - c.373G>A (Ensembl:ENST00000417430) - p.Ala125Thr (Ensembl:ENST00000419375) - c.373G>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1814151356 | 126 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NT_167244.2:g.3127453G>A, NT_167247.2:g.3136731G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NT_167244.2:g.3127453G>A, NT_167247.2:g.3136731G>A Locations: - p.Gln126Ter (Ensembl:ENST00000417430) - c.376C>T (Ensembl:ENST00000417430) - p.Gln126Ter (Ensembl:ENST00000419375) - c.376C>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs759882605 | 126 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: tolerated (0.07) Somatic: No Accession: NT_167244.2:g.3127451C>G, NT_167247.2:g.3136729C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3127451C>G, NT_167247.2:g.3136729C>G Locations: - p.Gln126His (Ensembl:ENST00000417430) - c.378G>C (Ensembl:ENST00000417430) - p.Gln126His (Ensembl:ENST00000419375) - c.378G>C (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs1418380569 | 128 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated (0.37) Somatic: No Accession: NT_167247.2:g.3136724G>A, NT_167244.2:g.3127446G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136724G>A, NT_167244.2:g.3127446G>A Locations: - p.Pro128Leu (Ensembl:ENST00000419375) - c.383C>T (Ensembl:ENST00000419375) - p.Pro128Leu (Ensembl:ENST00000417430) - c.383C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1418380569 | 128 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.274) - SIFT: tolerated (0.44) Somatic: No Accession: NT_167247.2:g.3136724G>C, NT_167244.2:g.3127446G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136724G>C, NT_167244.2:g.3127446G>C Locations: - p.Pro128Arg (Ensembl:ENST00000419375) - c.383C>G (Ensembl:ENST00000419375) - p.Pro128Arg (Ensembl:ENST00000417430) - c.383C>G (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1267933103 | 129 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (1) Somatic: No Accession: NT_167247.2:g.3136722G>C, NT_167244.2:g.3127444G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136722G>C, NT_167244.2:g.3127444G>C Locations: - p.Gln129Glu (Ensembl:ENST00000419375) - c.385C>G (Ensembl:ENST00000419375) - p.Gln129Glu (Ensembl:ENST00000417430) - c.385C>G (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs777181955 | 129 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3136720C>A, NT_167244.2:g.3127442C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3136720C>A, NT_167244.2:g.3127442C>A Locations: - p.Gln129His (Ensembl:ENST00000419375) - c.387G>T (Ensembl:ENST00000419375) - p.Gln129His (Ensembl:ENST00000417430) - c.387G>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1814004829 | 133 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: tolerated (0.44) Somatic: No Accession: NT_167247.2:g.3135000C>T, NT_167244.2:g.3125722C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3135000C>T, NT_167244.2:g.3125722C>T Locations: - p.Gly133Arg (Ensembl:ENST00000419375) - c.397G>A (Ensembl:ENST00000419375) - p.Gly133Arg (Ensembl:ENST00000417430) - c.397G>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs527579646 | 134 | A>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.343) - SIFT: tolerated (0.27) Somatic: No Accession: NT_167247.2:g.3134996G>T, NT_167244.2:g.3125718G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134996G>T, NT_167244.2:g.3125718G>T Locations: - p.Ala134Asp (Ensembl:ENST00000419375) - c.401C>A (Ensembl:ENST00000419375) - p.Ala134Asp (Ensembl:ENST00000417430) - c.401C>A (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs527579646 | 134 | A>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.681) - SIFT: tolerated (0.08) Somatic: No Accession: NT_167247.2:g.3134996G>A, NT_167244.2:g.3125718G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134996G>A, NT_167244.2:g.3125718G>A Locations: - p.Ala134Val (Ensembl:ENST00000419375) - c.401C>T (Ensembl:ENST00000419375) - p.Ala134Val (Ensembl:ENST00000417430) - c.401C>T (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs752958092 | 137 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.851) - SIFT: deleterious (0.04) Somatic: No Accession: NT_167244.2:g.3125710T>A, NT_167247.2:g.3134988T>A Codon: AGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125710T>A, NT_167247.2:g.3134988T>A Locations: - p.Arg137Trp (Ensembl:ENST00000417430) - c.409A>T (Ensembl:ENST00000417430) - p.Arg137Trp (Ensembl:ENST00000419375) - c.409A>T (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs1259881363 | 138 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: No Accession: NT_167247.2:g.3134984G>A, NT_167244.2:g.3125706G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134984G>A, NT_167244.2:g.3125706G>A Locations: - p.Ala138Val (Ensembl:ENST00000419375) - c.413C>T (Ensembl:ENST00000419375) - p.Ala138Val (Ensembl:ENST00000417430) - c.413C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1814001796 | 142 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3134971C>G, NT_167244.2:g.3125693C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134971C>G, NT_167244.2:g.3125693C>G Locations: - p.Leu142Phe (Ensembl:ENST00000419375) - c.426G>C (Ensembl:ENST00000419375) - p.Leu142Phe (Ensembl:ENST00000417430) - c.426G>C (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1428761910 | 142 | L>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3125694A>G, NT_167247.2:g.3134972A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125694A>G, NT_167247.2:g.3134972A>G Locations: - p.Leu142Ser (Ensembl:ENST00000417430) - c.425T>C (Ensembl:ENST00000417430) - p.Leu142Ser (Ensembl:ENST00000419375) - c.425T>C (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs754084598 | 144 | E>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.76) Somatic: No Accession: NT_167244.2:g.3125688T>G, NT_167247.2:g.3134966T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125688T>G, NT_167247.2:g.3134966T>G Locations: - p.Glu144Ala (Ensembl:ENST00000417430) - c.431A>C (Ensembl:ENST00000417430) - p.Glu144Ala (Ensembl:ENST00000419375) - c.431A>C (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs1814001162 | 145 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NT_167244.2:g.3125686A>G, NT_167247.2:g.3134964A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125686A>G, NT_167247.2:g.3134964A>G Locations: - p.Trp145Arg (Ensembl:ENST00000417430) - c.433T>C (Ensembl:ENST00000417430) - p.Trp145Arg (Ensembl:ENST00000419375) - c.433T>C (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs2151435241 | 147 | R>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.274) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3134957C>A, NT_167244.2:g.3125679C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134957C>A, NT_167244.2:g.3125679C>A Locations: - p.Arg147Leu (Ensembl:ENST00000419375) - c.440G>T (Ensembl:ENST00000419375) - p.Arg147Leu (Ensembl:ENST00000417430) - c.440G>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs773749289 | 150 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3125671T>A, NT_167247.2:g.3134949T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125671T>A, NT_167247.2:g.3134949T>A Locations: - p.Thr150Ser (Ensembl:ENST00000417430) - c.448A>T (Ensembl:ENST00000417430) - p.Thr150Ser (Ensembl:ENST00000419375) - c.448A>T (Ensembl:ENST00000419375) Source type: large scale study | |||||||
rs1814000050 | 151 | Y>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3134946A>C, NT_167244.2:g.3125668A>C Codon: TAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134946A>C, NT_167244.2:g.3125668A>C Locations: - p.Tyr151Asp (Ensembl:ENST00000419375) - c.451T>G (Ensembl:ENST00000419375) - p.Tyr151Asp (Ensembl:ENST00000417430) - c.451T>G (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs2151435221 | 152 | L>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3125664A>G, NT_167247.2:g.3134942A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125664A>G, NT_167247.2:g.3134942A>G Locations: - p.Leu152Ser (Ensembl:ENST00000417430) - c.455T>C (Ensembl:ENST00000417430) - p.Leu152Ser (Ensembl:ENST00000419375) - c.455T>C (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs896350261 | 153 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.204) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167247.2:g.3134940C>T, NT_167244.2:g.3125662C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134940C>T, NT_167244.2:g.3125662C>T Locations: - p.Ala153Thr (Ensembl:ENST00000419375) - c.457G>A (Ensembl:ENST00000419375) - p.Ala153Thr (Ensembl:ENST00000417430) - c.457G>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1302004923 | 153 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NT_167244.2:g.3125661G>A, NT_167247.2:g.3134939G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125661G>A, NT_167247.2:g.3134939G>A Locations: - p.Ala153Val (Ensembl:ENST00000417430) - c.458C>T (Ensembl:ENST00000417430) - p.Ala153Val (Ensembl:ENST00000419375) - c.458C>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs566508743 | 154 | G>A | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.08) Somatic: No Accession: NT_167247.2:g.3134936C>G, NT_167244.2:g.3125658C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134936C>G, NT_167244.2:g.3125658C>G Locations: - p.Gly154Ala (Ensembl:ENST00000419375) - c.461G>C (Ensembl:ENST00000419375) - p.Gly154Ala (Ensembl:ENST00000417430) - c.461G>C (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs566508743 | 154 | G>E | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NT_167244.2:g.3125658C>T, NT_167247.2:g.3134936C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125658C>T, NT_167247.2:g.3134936C>T Locations: - p.Gly154Glu (Ensembl:ENST00000417430) - c.461G>A (Ensembl:ENST00000417430) - p.Gly154Glu (Ensembl:ENST00000419375) - c.461G>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs566508743 | 154 | G>V | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3134936C>A, NT_167244.2:g.3125658C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134936C>A, NT_167244.2:g.3125658C>A Locations: - p.Gly154Val (Ensembl:ENST00000419375) - c.461G>T (Ensembl:ENST00000419375) - p.Gly154Val (Ensembl:ENST00000417430) - c.461G>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs143672420 | 154 | G>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3134937C>A, NT_167244.2:g.3125659C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134937C>A, NT_167244.2:g.3125659C>A Locations: - p.Gly154Trp (Ensembl:ENST00000419375) - c.460G>T (Ensembl:ENST00000419375) - p.Gly154Trp (Ensembl:ENST00000417430) - c.460G>T (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs768130196 | 156 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated (0.23) Somatic: No Accession: NT_167244.2:g.3125653C>T, NT_167247.2:g.3134931C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125653C>T, NT_167247.2:g.3134931C>T Locations: - p.Ala156Thr (Ensembl:ENST00000417430) - c.466G>A (Ensembl:ENST00000417430) - p.Ala156Thr (Ensembl:ENST00000419375) - c.466G>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1381453174 | 157 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.34) Somatic: No Accession: NT_167247.2:g.3134927G>A, NT_167244.2:g.3125649G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134927G>A, NT_167244.2:g.3125649G>A Locations: - p.Pro157Leu (Ensembl:ENST00000419375) - c.470C>T (Ensembl:ENST00000419375) - p.Pro157Leu (Ensembl:ENST00000417430) - c.470C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1228465173 | 158 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.09) Somatic: No Accession: NT_167244.2:g.3125647T>A, NT_167247.2:g.3134925T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125647T>A, NT_167247.2:g.3134925T>A Locations: - p.Thr158Ser (Ensembl:ENST00000417430) - c.472A>T (Ensembl:ENST00000417430) - p.Thr158Ser (Ensembl:ENST00000419375) - c.472A>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1002139015 | 160 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NT_167247.2:g.3134919C>T, NT_167244.2:g.3125641C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134919C>T, NT_167244.2:g.3125641C>T Locations: - p.Ala160Thr (Ensembl:ENST00000419375) - c.478G>A (Ensembl:ENST00000419375) - p.Ala160Thr (Ensembl:ENST00000417430) - c.478G>A (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1813996021 | 160 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3134918G>A, NT_167244.2:g.3125640G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134918G>A, NT_167244.2:g.3125640G>A Locations: - p.Ala160Val (Ensembl:ENST00000419375) - c.479C>T (Ensembl:ENST00000419375) - p.Ala160Val (Ensembl:ENST00000417430) - c.479C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1813995426 | 161 | D>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3125637T>G, NT_167247.2:g.3134915T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125637T>G, NT_167247.2:g.3134915T>G Locations: - p.Asp161Ala (Ensembl:ENST00000417430) - c.482A>C (Ensembl:ENST00000417430) - p.Asp161Ala (Ensembl:ENST00000419375) - c.482A>C (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs749005756 | 161 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3134916C>T, NT_167244.2:g.3125638C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134916C>T, NT_167244.2:g.3125638C>T Locations: - p.Asp161Asn (Ensembl:ENST00000419375) - c.481G>A (Ensembl:ENST00000419375) - p.Asp161Asn (Ensembl:ENST00000417430) - c.481G>A (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs1813994652 | 163 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: tolerated (0.17) Somatic: No Accession: NT_167247.2:g.3134910C>A, NT_167244.2:g.3125632C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134910C>A, NT_167244.2:g.3125632C>A Locations: - p.Ala163Ser (Ensembl:ENST00000419375) - c.487G>T (Ensembl:ENST00000419375) - p.Ala163Ser (Ensembl:ENST00000417430) - c.487G>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs769757282 | 164 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167247.2:g.3134907C>A, NT_167244.2:g.3125629C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134907C>A, NT_167244.2:g.3125629C>A Locations: - p.Ala164Ser (Ensembl:ENST00000419375) - c.490G>T (Ensembl:ENST00000419375) - p.Ala164Ser (Ensembl:ENST00000417430) - c.490G>T (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs769757282 | 164 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.349) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167247.2:g.3134907C>T, NT_167244.2:g.3125629C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134907C>T, NT_167244.2:g.3125629C>T Locations: - p.Ala164Thr (Ensembl:ENST00000419375) - c.490G>A (Ensembl:ENST00000419375) - p.Ala164Thr (Ensembl:ENST00000417430) - c.490G>A (Ensembl:ENST00000417430) Source type: large scale study | |||||||
rs1169347135 | 165 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.95) Somatic: No Accession: NT_167247.2:g.3134903A>G, NT_167244.2:g.3125625A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134903A>G, NT_167244.2:g.3125625A>G Locations: - p.Val165Ala (Ensembl:ENST00000419375) - c.494T>C (Ensembl:ENST00000419375) - p.Val165Ala (Ensembl:ENST00000417430) - c.494T>C (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1169347135 | 165 | V>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: deleterious (0.03) Somatic: No Accession: NT_167244.2:g.3125625A>T, NT_167247.2:g.3134903A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125625A>T, NT_167247.2:g.3134903A>T Locations: - p.Val165Asp (Ensembl:ENST00000417430) - c.494T>A (Ensembl:ENST00000417430) - p.Val165Asp (Ensembl:ENST00000419375) - c.494T>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs745766805 | 166 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: tolerated (0.06) Somatic: No Accession: NT_167247.2:g.3134901T>A, NT_167244.2:g.3125623T>A Codon: ACA/TCA Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134901T>A, NT_167244.2:g.3125623T>A Locations: - p.Thr166Ser (Ensembl:ENST00000419375) - c.496A>T (Ensembl:ENST00000419375) - p.Thr166Ser (Ensembl:ENST00000417430) - c.496A>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1192676706 | 167 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3134897G>A, NT_167244.2:g.3125619G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134897G>A, NT_167244.2:g.3125619G>A Locations: - p.Ala167Val (Ensembl:ENST00000419375) - c.500C>T (Ensembl:ENST00000419375) - p.Ala167Val (Ensembl:ENST00000417430) - c.500C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs148951521 | 168 | L>S | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.582) - SIFT: deleterious (0) Somatic: No Accession: NT_167247.2:g.3134894A>G, NT_167244.2:g.3125616A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_167247.2:g.3134894A>G, NT_167244.2:g.3125616A>G Locations: - p.Leu168Ser (Ensembl:ENST00000419375) - c.503T>C (Ensembl:ENST00000419375) - p.Leu168Ser (Ensembl:ENST00000417430) - c.503T>C (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs781343945 | 168 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3125617A>C, NT_167247.2:g.3134895A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125617A>C, NT_167247.2:g.3134895A>C Locations: - p.Leu168Val (Ensembl:ENST00000417430) - c.502T>G (Ensembl:ENST00000417430) - p.Leu168Val (Ensembl:ENST00000419375) - c.502T>G (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1275936037 | 172 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3125604A>C, NT_167247.2:g.3134882A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125604A>C, NT_167247.2:g.3134882A>C Locations: - p.Phe172Cys (Ensembl:ENST00000417430) - c.515T>G (Ensembl:ENST00000417430) - p.Phe172Cys (Ensembl:ENST00000419375) - c.515T>G (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs779054420 | 173 | R>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NT_167247.2:g.3134880G>A, NT_167244.2:g.3125602G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NT_167247.2:g.3134880G>A, NT_167244.2:g.3125602G>A Locations: - p.Arg173Ter (Ensembl:ENST00000419375) - c.517C>T (Ensembl:ENST00000419375) - p.Arg173Ter (Ensembl:ENST00000417430) - c.517C>T (Ensembl:ENST00000417430) Source type: large scale study Cross-references: | |||||||
rs1340784072 | 173 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3125601C>A, NT_167247.2:g.3134879C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125601C>A, NT_167247.2:g.3134879C>A Locations: - p.Arg173Leu (Ensembl:ENST00000417430) - c.518G>T (Ensembl:ENST00000417430) - p.Arg173Leu (Ensembl:ENST00000419375) - c.518G>T (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1340784072 | 173 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: tolerated (0.09) Somatic: No Accession: NT_167244.2:g.3125601C>T, NT_167247.2:g.3134879C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125601C>T, NT_167247.2:g.3134879C>T Locations: - p.Arg173Gln (Ensembl:ENST00000417430) - c.518G>A (Ensembl:ENST00000417430) - p.Arg173Gln (Ensembl:ENST00000419375) - c.518G>A (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1581662045 | 174 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NT_167244.2:g.3125597G>C, NT_167247.2:g.3134875G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NT_167244.2:g.3125597G>C, NT_167247.2:g.3134875G>C Locations: - p.Tyr174Ter (Ensembl:ENST00000417430) - c.522C>G (Ensembl:ENST00000417430) - p.Tyr174Ter (Ensembl:ENST00000419375) - c.522C>G (Ensembl:ENST00000419375) Source type: large scale study Cross-references: | |||||||
rs1813989820 | 174 | Y>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: deleterious (0) Somatic: No Accession: NT_167244.2:g.3125598T>G, NT_167247.2:g.3134876T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_167244.2:g.3125598T>G, NT_167247.2:g.3134876T>G Locations: - p.Tyr174Ser (Ensembl:ENST00000417430) - c.521A>C (Ensembl:ENST00000417430) - p.Tyr174Ser (Ensembl:ENST00000419375) - c.521A>C (Ensembl:ENST00000419375) Source type: large scale study Cross-references: |