| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46755610C>T | CA116714 | FKRP | c.160C>T (p.Arg54Trp) c.-270C>T (n.-270C>T) n.386C>T n.247-6223C>T n.247+6945C>T c.160C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46755610C>G | CA309099208 | FKRP | c.160C>G (p.Arg54Gly) c.-270C>G (n.-270C>G) n.386C>G n.247-6223C>G n.247+6945C>G c.160C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46755610C= | CA2339067114 | FKRP | c.160C= (p.Arg54=) c.-270C= (n.-270C=) n.386C= n.247-6223C= n.247+6945C= c.160C= | dbSNP |