| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.14139231C>T | CA024800 | TMEM43 | c.*964C>T (n.*964C>T) c.934C>T (p.Arg312Trp) n.261C>T c.170C>T c.829C>T (p.Arg277Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14139231C= | CA1346972754 | TMEM43 | c.*964C= (n.*964C=) c.934C= (p.Arg312=) n.261C= c.170C= c.829C= (p.Arg277=) | dbSNP |
| 3 | g.14139231C>G | CA351536188 | TMEM43 | c.*964C>G (n.*964C>G) c.934C>G (p.Arg312Gly) n.261C>G c.170C>G c.829C>G (p.Arg277Gly) | dbSNP gnomAD v4 |