| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.62630788C>T | CA6050833 | GANAB | c.1199G>A (p.Arg400His) c.908G>A (p.Arg303His) c.1265G>A (p.Arg422His) c.*931G>A (n.*931G>A) c.923G>A (p.Arg308His) c.857G>A (p.Arg286His) c.476G>A (p.Arg159His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62630788C>A | CA10586207 | GANAB | c.1199G>T (p.Arg400Leu) c.908G>T (p.Arg303Leu) c.1265G>T (p.Arg422Leu) c.*931G>T (n.*931G>T) c.923G>T (p.Arg308Leu) c.857G>T (p.Arg286Leu) c.476G>T (p.Arg159Leu) | ClinVar dbSNP gnomAD v4 |