| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27312684T>C | CA346208452 | MPV17 | c.275A>G (p.Asp92Gly) c.107A>G (p.Asp36Gly) c.240A>G (p.Gly80=) c.186+310A>G (n.186+310A>G) c.320A>G (p.Asp107Gly) c.*76A>G (n.*76A>G) c.197A>G (p.Asp66Gly) c.205A>G n.303A>G n.252A>G n.704A>G n.301A>G n.331A>G n.291A>G n.448A>G c.116A>G (p.Asp39Gly) c.227A>G (p.Asp76Gly) c.257A>G (p.Asp86Gly) | ClinVar dbSNP |
| 2 | g.27312684T>G | CA16604109 | MPV17 | c.275A>C (p.Asp92Ala) c.107A>C (p.Asp36Ala) c.240A>C (p.Gly80=) c.186+310A>C (n.186+310A>C) c.320A>C (p.Asp107Ala) c.*76A>C (n.*76A>C) c.197A>C (p.Asp66Ala) c.205A>C n.303A>C n.252A>C n.704A>C n.301A>C n.331A>C n.291A>C n.448A>C c.116A>C (p.Asp39Ala) c.227A>C (p.Asp76Ala) c.257A>C (p.Asp86Ala) | ClinVar dbSNP |