19 | g.46756276C>A | CA116701 | FKRP | c.826C>A (p.Leu276Ile) n.247-5557C>A n.247+7611C>A
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46756276C>T | CA507976222 | FKRP | c.826C>T (p.Leu276=) n.247-5557C>T n.247+7611C>T
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |