| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.116525306A>C | CA4447793 | CAV1 | c.30+214A>C (n.30+214A>C) c.244A>C (p.Arg82=) n.81+214A>C c.-563A>C (n.-563A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116525306A>T | CA1736928645 | CAV1 | c.30+214A>T (n.30+214A>T) c.244A>T (p.Arg82Trp) n.81+214A>T c.-563A>T (n.-563A>T) | dbSNP |
| 7 | g.116525306A>G | CA577425112 | CAV1 | c.30+214A>G (n.30+214A>G) c.244A>G (p.Arg82Gly) n.81+214A>G c.-563A>G (n.-563A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |