A0A140T9Q8 · A0A140T9Q8_HUMAN
- ProteinMajor histocompatibility complex, class II, DM beta
- GeneHLA-DMB
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids106 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs759898785 | 2 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NT_167246.2:g.4356804C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356804C>G Locations: - p.Ala2Pro (Ensembl:ENST00000421456) - c.4G>C (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs995890905 | 5 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (0.22) Somatic: No Accession: NT_167246.2:g.4356795T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356795T>C Locations: - p.Thr5Ala (Ensembl:ENST00000421456) - c.13A>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs995890905 | 5 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.53) - SIFT: tolerated (0.05) Somatic: No Accession: NT_167246.2:g.4356795T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356795T>A Locations: - p.Thr5Ser (Ensembl:ENST00000421456) - c.13A>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs761066493 | 6 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356792G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356792G>C Locations: - p.Pro6Ala (Ensembl:ENST00000421456) - c.16C>G (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs1160065935 | 10 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.622) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167246.2:g.4356779C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356779C>G Locations: - p.Arg10Thr (Ensembl:ENST00000421456) - c.29G>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs772240569 | 12 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167246.2:g.4356773G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356773G>T Locations: - p.Pro12His (Ensembl:ENST00000421456) - c.35C>A (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs772240569 | 12 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.438) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356773G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356773G>A Locations: - p.Pro12Leu (Ensembl:ENST00000421456) - c.35C>T (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs772240569 | 12 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.559) - SIFT: deleterious (0.02) Somatic: No Accession: NT_167246.2:g.4356773G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356773G>C Locations: - p.Pro12Arg (Ensembl:ENST00000421456) - c.35C>G (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs143633244 | 16 | A>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.77) Somatic: No Accession: NT_167246.2:g.4356762C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356762C>T Locations: - p.Ala16Thr (Ensembl:ENST00000421456) - c.46G>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs768804217 | 17 | C>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356759A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356759A>C Locations: - p.Cys17Gly (Ensembl:ENST00000421456) - c.49T>G (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs745762577 | 21 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.742) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167246.2:g.4356747C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356747C>T Locations: - p.Gly21Ser (Ensembl:ENST00000421456) - c.61G>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1044113265 | 22 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167246.2:g.4356743A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356743A>G Locations: - p.Phe22Ser (Ensembl:ENST00000421456) - c.65T>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1776070660 | 23 | Y>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356741A>C Codon: TAT/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356741A>C Locations: - p.Tyr23Asp (Ensembl:ENST00000421456) - c.67T>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1261217860 | 25 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.11) Somatic: No Accession: NT_167246.2:g.4356734G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356734G>T Locations: - p.Ala25Glu (Ensembl:ENST00000421456) - c.74C>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1344159334 | 25 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.7) Somatic: No Accession: NT_167246.2:g.4356735C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356735C>G Locations: - p.Ala25Pro (Ensembl:ENST00000421456) - c.73G>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1291535618 | 27 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.05) Somatic: No Accession: NT_167246.2:g.4356729C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356729C>G Locations: - p.Val27Leu (Ensembl:ENST00000421456) - c.79G>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1776069190 | 29 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.227) - SIFT: tolerated (0.15) Somatic: No Accession: NT_167246.2:g.4356723T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356723T>G Locations: - p.Ile29Leu (Ensembl:ENST00000421456) - c.85A>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs148929307 | 30 | T>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.32) Somatic: No Accession: NT_167246.2:g.4356720T>A Codon: ACG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356720T>A Locations: - p.Thr30Ser (Ensembl:ENST00000421456) - c.88A>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs145745508 | 31 | W>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356717A>G, NT_167246.2:g.4356717A>T Codon: TGG/CGG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356717A>G, NT_167246.2:g.4356717A>T Locations: - p.Trp31Arg (Ensembl:ENST00000421456) - c.91T>C (Ensembl:ENST00000421456) - c.91T>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs368649736 | 33 | K>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0.04) Somatic: No Accession: NT_167246.2:g.4356709C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356709C>G Locations: - p.Lys33Asn (Ensembl:ENST00000421456) - c.99G>C (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs1776067842 | 35 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167246.2:g.4356704C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356704C>T Locations: - p.Gly35Glu (Ensembl:ENST00000421456) - c.104G>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1250524133 | 35 | G>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356705C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356705C>A Locations: - p.Gly35Trp (Ensembl:ENST00000421456) - c.103G>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1776067219 | 38 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.341) - SIFT: tolerated (0.17) Somatic: No Accession: NT_167246.2:g.4356696C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356696C>G Locations: - p.Val38Leu (Ensembl:ENST00000421456) - c.112G>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs146577083 | 39 | M>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NT_167246.2:g.4356691C>G Codon: ATG/ATC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356691C>G Locations: - p.Met39Ile (Ensembl:ENST00000421456) - c.117G>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs754512342 | 41 | H>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: tolerated (0.3) Somatic: No Accession: NT_167246.2:g.4356686T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356686T>A Locations: - p.His41Leu (Ensembl:ENST00000421456) - c.122A>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1561861279 | 43 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: tolerated (0.1) Somatic: No Accession: NT_167246.2:g.4356681T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356681T>A Locations: - p.Ser43Cys (Ensembl:ENST00000421456) - c.127A>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs754310405 | 43 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.59) Somatic: No Accession: NT_167246.2:g.4356679A>T Codon: AGT/AGA Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356679A>T Locations: - p.Ser43Arg (Ensembl:ENST00000421456) - c.129T>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs35310082 | 44 | A>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: tolerated (0.54) Somatic: No Accession: NT_167246.2:g.4356677G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356677G>T Locations: - p.Ala44Glu (Ensembl:ENST00000421456) - c.131C>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs766918178 | 44 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.673) - SIFT: tolerated (0.6) Somatic: No Accession: NT_167246.2:g.4356678C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356678C>G Locations: - p.Ala44Pro (Ensembl:ENST00000421456) - c.130G>C (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs35310082 | 44 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.18) Somatic: No Accession: NT_167246.2:g.4356677G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356677G>A Locations: - p.Ala44Val (Ensembl:ENST00000421456) - c.131C>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs371375658 | 45 | H>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.12) Somatic: No Accession: NT_167246.2:g.4356675G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356675G>T Locations: - p.His45Asn (Ensembl:ENST00000421456) - c.133C>A (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs761891564 | 46 | K>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: tolerated (0.53) Somatic: No Accession: NT_167246.2:g.4356671T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356671T>G Locations: - p.Lys46Thr (Ensembl:ENST00000421456) - c.137A>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs2127468775 | 48 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.789) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356665G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356665G>T Locations: - p.Ala48Asp (Ensembl:ENST00000421456) - c.143C>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs774666172 | 48 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.838) - SIFT: tolerated (0.06) Somatic: No Accession: NT_167246.2:g.4356666C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356666C>G Locations: - p.Ala48Pro (Ensembl:ENST00000421456) - c.142G>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs990861866 | 49 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NT_167246.2:g.4356663G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NT_167246.2:g.4356663G>A Locations: - p.Gln49Ter (Ensembl:ENST00000421456) - c.145C>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs763176877 | 51 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356655A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356655A>C Locations: - p.Asn51Lys (Ensembl:ENST00000421456) - c.153T>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs147622332 | 52 | G>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356654C>G Codon: GGA/CGA Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356654C>G Locations: - p.Gly52Arg (Ensembl:ENST00000421456) - c.154G>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs771062113 | 53 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.588) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356649G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356649G>C Locations: - p.Asp53Glu (Ensembl:ENST00000421456) - c.159C>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1776062638 | 55 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356644G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356644G>A Locations: - p.Thr55Ile (Ensembl:ENST00000421456) - c.164C>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1276436308 | 56 | Y>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356642A>C Codon: TAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356642A>C Locations: - p.Tyr56Asp (Ensembl:ENST00000421456) - c.166T>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1304467328 | 59 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.559) - SIFT: tolerated (0.06) Somatic: No Accession: NT_167246.2:g.4356633G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356633G>A Locations: - p.Leu59Phe (Ensembl:ENST00000421456) - c.175C>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs746951266 | 61 | H>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.21) Somatic: No Accession: NT_167246.2:g.4356627G>C Codon: CAT/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356627G>C Locations: - p.His61Asp (Ensembl:ENST00000421456) - c.181C>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1776061315 | 61 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.239) - SIFT: tolerated (0.28) Somatic: No Accession: NT_167246.2:g.4356625A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356625A>C Locations: - p.His61Gln (Ensembl:ENST00000421456) - c.183T>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs998771425 | 63 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.32) Somatic: No Accession: NT_167246.2:g.4356621C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356621C>G Locations: - p.Ala63Pro (Ensembl:ENST00000421456) - c.187G>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs777377329 | 66 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356611G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356611G>T Locations: - p.Pro66His (Ensembl:ENST00000421456) - c.197C>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs376229232 | 69 | G>A | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.82) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167246.2:g.4356602C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356602C>G Locations: - p.Gly69Ala (Ensembl:ENST00000421456) - c.206G>C (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs376229232 | 69 | G>E | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356602C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356602C>T Locations: - p.Gly69Glu (Ensembl:ENST00000421456) - c.206G>A (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs771918401 | 69 | G>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: deleterious (0.02) Somatic: No Accession: NT_167246.2:g.4356603C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356603C>A Locations: - p.Gly69Trp (Ensembl:ENST00000421456) - c.205G>T (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs1328546953 | 70 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356599T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356599T>G Locations: - p.Asp70Ala (Ensembl:ENST00000421456) - c.209A>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1236693886 | 70 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356600C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356600C>T Locations: - p.Asp70Asn (Ensembl:ENST00000421456) - c.208G>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1408606652 | 73 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.498) - SIFT: deleterious (0.03) Somatic: No Accession: NT_167246.2:g.4356590G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356590G>C Locations: - p.Thr73Ser (Ensembl:ENST00000421456) - c.218C>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1416467052 | 76 | V>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356581A>T Codon: GTA/GAA Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356581A>T Locations: - p.Val76Glu (Ensembl:ENST00000421456) - c.227T>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1776058392 | 76 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356582C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356582C>T Locations: - p.Val76Ile (Ensembl:ENST00000421456) - c.226G>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs754460025 | 78 | H>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NT_167246.2:g.4356575T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356575T>A Locations: - p.His78Leu (Ensembl:ENST00000421456) - c.233A>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1042337 | 79 | I>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: tolerated (0.05) Somatic: No Accession: NT_167246.2:g.4356571A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356571A>C Locations: - p.Ile79Met (Ensembl:ENST00000421456) - c.237T>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1444294352 | 79 | I>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.74) Somatic: No Accession: NT_167246.2:g.4356572A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356572A>C Locations: - p.Ile79Ser (Ensembl:ENST00000421456) - c.236T>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs113043820 | 80 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167246.2:g.4356570C>T, NT_167246.2:g.4356570C>G Codon: GGG/AGG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356570C>T, NT_167246.2:g.4356570C>G Locations: - p.Gly80Arg (Ensembl:ENST00000421456) - c.238G>A (Ensembl:ENST00000421456) - c.238G>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1776056565 | 81 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.26) Somatic: No Accession: NT_167246.2:g.4356567C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356567C>T Locations: - p.Ala81Thr (Ensembl:ENST00000421456) - c.241G>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1776055327 | 86 | L>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: deleterious (0.04) Somatic: No Accession: NT_167246.2:g.4356552G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356552G>T Locations: - p.Leu86Ile (Ensembl:ENST00000421456) - c.256C>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs151223109 | 86 | L>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.2) Somatic: No Accession: NT_167246.2:g.4356551A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356551A>C Locations: - p.Leu86Arg (Ensembl:ENST00000421456) - c.257T>G (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs894995436 | 87 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167246.2:g.4356548C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356548C>A Locations: - p.Arg87Leu (Ensembl:ENST00000421456) - c.260G>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs750962620 | 88 | D>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: deleterious (0.01) Somatic: No Accession: NT_167246.2:g.4356545T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4356545T>A Locations: - p.Asp88Val (Ensembl:ENST00000421456) - c.263A>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs779275615 | 92 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.267) - SIFT: tolerated (0.77) Somatic: No Accession: NT_167246.2:g.4354739G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4354739G>C Locations: - p.Thr92Ser (Ensembl:ENST00000421456) - c.275C>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1360438285 | 92 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.267) - SIFT: tolerated (0.77) Somatic: No Accession: NT_167246.2:g.4354740T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4354740T>A Locations: - p.Thr92Ser (Ensembl:ENST00000421456) - c.274A>T (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1174865693 | 93 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.203) - SIFT: tolerated (0.5) Somatic: No Accession: NT_167246.2:g.4354737G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4354737G>C Locations: - p.Pro93Ala (Ensembl:ENST00000421456) - c.277C>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs754021364 | 93 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: tolerated (0.34) Somatic: No Accession: NT_167246.2:g.4354736G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4354736G>C Locations: - p.Pro93Arg (Ensembl:ENST00000421456) - c.278C>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs764075421 | 98 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: tolerated (0.08) Somatic: No Accession: NT_167246.2:g.4354720A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4354720A>C Locations: - p.Asn98Lys (Ensembl:ENST00000421456) - c.294T>G (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs751475710 | 98 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.74) Somatic: No Accession: NT_167246.2:g.4354721T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4354721T>C Locations: - p.Asn98Ser (Ensembl:ENST00000421456) - c.293A>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1775942907 | 100 | S>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NT_167246.2:g.4354716A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4354716A>C Locations: - p.Ser100Ala (Ensembl:ENST00000421456) - c.298T>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1651217960 | 102 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.735) - SIFT: deleterious (0.03) Somatic: No Accession: NT_167246.2:g.4354355C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4354355C>T Locations: - p.Gly102Glu (Ensembl:ENST00000421456) - c.305G>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs1775914701 | 103 | W>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NT_167246.2:g.4354352C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4354352C>G Locations: - p.Trp103Ser (Ensembl:ENST00000421456) - c.308G>C (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs375880150 | 104 | H>L | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NT_167246.2:g.4354349T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4354349T>A Locations: - p.His104Leu (Ensembl:ENST00000421456) - c.311A>T (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs867679506 | 104 | H>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NT_167246.2:g.4354350G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4354350G>T Locations: - p.His104Asn (Ensembl:ENST00000421456) - c.310C>A (Ensembl:ENST00000421456) Source type: large scale study Cross-references: | |||||||
rs753511715 | 105 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167246.2:g.4354345A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: Genomic location: NT_167246.2:g.4354345A>C Locations: - p.Ile105Met (Ensembl:ENST00000421456) - c.315T>G (Ensembl:ENST00000421456) Source type: large scale study | |||||||
rs1582807726 | 107 | *>E | Ensembl | ||||
Consequence: stop lost Somatic: No Accession: NT_167246.2:g.4354341A>C Codon: TAG/GAG Consequence type: stop lost Cytogenetic band: Genomic location: NT_167246.2:g.4354341A>C Locations: - p.Ter107GluextTer18 (Ensembl:ENST00000421456) - c.319T>G (Ensembl:ENST00000421456) Source type: large scale study Cross-references: |