| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.236885200A>G | CA170993 | MTR | c.2756A>G (p.Asp919Gly) c.2603A>G (p.Asp868Gly) c.*1798A>G (n.*1798A>G) c.*1500A>G (n.*1500A>G) c.2408A>G (p.Asp803Gly) n.3070A>G c.2567A>G (p.Asp856Gly) n.3200A>G c.2576A>G (p.Asp859Gly) c.2318A>G (p.Asp773Gly) n.2950A>G c.1418A>G (p.Asp473Gly) c.1535A>G (p.Asp512Gly) c.2753A>G (p.Asp918Gly) c.1820A>G (p.Asp607Gly) c.2924A>G (p.Asp975Gly) c.2771A>G (p.Asp924Gly) c.2735A>G (p.Asp912Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.236885200A= | CA1139895347 | MTR | c.2756A= (p.Asp919=) c.2603A= (p.Asp868=) c.*1798A= (n.*1798A=) c.*1500A= (n.*1500A=) c.2408A= (p.Asp803=) n.3070A= c.2567A= (p.Asp856=) n.3200A= c.2576A= (p.Asp859=) c.2318A= (p.Asp773=) n.2950A= c.1418A= (p.Asp473=) c.1535A= (p.Asp512=) c.2753A= (p.Asp918=) c.1820A= (p.Asp607=) c.2924A= (p.Asp975=) c.2771A= (p.Asp924=) c.2735A= (p.Asp912=) | dbSNP dbSNP |