Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.56453715T>C | CA214941 | MIP | c.*25A>G (n.*25A>G) n.534A>G n.290A>G c.401A>G (p.Glu134Gly) n.357A>G c.116A>G (p.Glu39Gly) c.44A>G (p.Glu15Gly) | ClinVar dbSNP |
12 | g.56453715T>G | CA16607380 | MIP | c.*25A>C (n.*25A>C) n.534A>C n.290A>C c.401A>C (p.Glu134Ala) n.357A>C c.116A>C (p.Glu39Ala) c.44A>C (p.Glu15Ala) | ClinVar dbSNP |