| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.116559150del | CA10575743 | CAV1 | c.400del (p.Ile134LeufsTer5) c.307del (p.Ile103LeufsTer5) c.*230del (n.*230del) c.367del (p.Ile123LeufsTer5) c.*852del (n.*852del) | ClinVar dbSNP |
| 7 | g.116559150A= | CA3146206782 | CAV1 | c.400A= (p.Ile134=) c.307A= (p.Ile103=) c.*230A= (n.*230A=) c.367A= (p.Ile123=) c.*852A= (n.*852A=) | dbSNP dbSNP |