| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43211532C>A | CA345651 | EPB42 | c.433G>T (p.Asp145Tyr) c.523G>T (p.Asp175Tyr) c.199G>T (p.Asp67Tyr) c.292G>T (p.Asp98Tyr) c.97G>T (p.Asp33Tyr) c.487G>T (p.Asp163Tyr) c.-33G>T (n.-33G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43211532C>G | CA7520611 | EPB42 | c.433G>C (p.Asp145His) c.523G>C (p.Asp175His) c.199G>C (p.Asp67His) c.292G>C (p.Asp98His) c.97G>C (p.Asp33His) c.487G>C (p.Asp163His) c.-33G>C (n.-33G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |