| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.110603914A>G | CA341602976 | KCNA2 | c.869T>C (p.Leu290Pro) n.361+1477T>C c.107T>C (p.Leu36Pro) n.637T>C c.287T>C (p.Leu96Pro) n.977T>C n.459+1477T>C c.503T>C (p.Leu168Pro) | ClinVar dbSNP |
| 1 | g.110603914A>C | CA341602975 | KCNA2 | c.869T>G (p.Leu290Arg) n.361+1477T>G c.107T>G (p.Leu36Arg) n.637T>G c.287T>G (p.Leu96Arg) n.977T>G n.459+1477T>G c.503T>G (p.Leu168Arg) | ClinVar dbSNP |