| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756814C>A | CA116710 | FKRP | c.1364C>A (p.Ala455Asp) n.247-5019C>A n.247+8149C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756814C>T | CA9532303 | FKRP | c.1364C>T (p.Ala455Val) n.247-5019C>T n.247+8149C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756814C= | CA2339067817 | FKRP | c.1364C= (p.Ala455=) n.247-5019C= n.247+8149C= | dbSNP |