| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.236885202C>G | CA257195 | MTR | c.2758C>G (p.His920Asp) c.2605C>G (p.His869Asp) c.*1800C>G (n.*1800C>G) c.*1502C>G (n.*1502C>G) c.2410C>G (p.His804Asp) n.3072C>G c.2569C>G (p.His857Asp) n.3202C>G c.2578C>G (p.His860Asp) c.2320C>G (p.His774Asp) n.2952C>G c.1420C>G (p.His474Asp) c.1537C>G (p.His513Asp) c.2755C>G (p.His919Asp) c.1822C>G (p.His608Asp) c.2926C>G (p.His976Asp) c.2773C>G (p.His925Asp) c.2737C>G (p.His913Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.236885202C>T | CA345384628 | MTR | c.2758C>T (p.His920Tyr) c.2605C>T (p.His869Tyr) c.*1800C>T (n.*1800C>T) c.*1502C>T (n.*1502C>T) c.2410C>T (p.His804Tyr) n.3072C>T c.2569C>T (p.His857Tyr) n.3202C>T c.2578C>T (p.His860Tyr) c.2320C>T (p.His774Tyr) n.2952C>T c.1420C>T (p.His474Tyr) c.1537C>T (p.His513Tyr) c.2755C>T (p.His919Tyr) c.1822C>T (p.His608Tyr) c.2926C>T (p.His976Tyr) c.2773C>T (p.His925Tyr) c.2737C>T (p.His913Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.236885202C= | CA1141581489 | MTR | c.2758C= (p.His920=) c.2605C= (p.His869=) c.*1800C= (n.*1800C=) c.*1502C= (n.*1502C=) c.2410C= (p.His804=) n.3072C= c.2569C= (p.His857=) n.3202C= c.2578C= (p.His860=) c.2320C= (p.His774=) n.2952C= c.1420C= (p.His474=) c.1537C= (p.His513=) c.2755C= (p.His919=) c.1822C= (p.His608=) c.2926C= (p.His976=) c.2773C= (p.His925=) c.2737C= (p.His913=) | dbSNP |