| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46755970A>T | CA200251 | FKRP | c.520A>T (p.Ser174Cys) c.91A>T (p.Ser31Cys) n.247-5863A>T n.247+7305A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46755970A>G | CA406495488 | FKRP | c.520A>G (p.Ser174Gly) c.91A>G (p.Ser31Gly) n.247-5863A>G n.247+7305A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46755970A= | CA2339067383 | FKRP | c.520A= (p.Ser174=) c.91A= (p.Ser31=) n.247-5863A= n.247+7305A= | dbSNP |
| 19 | g.46755970A>C | CA406495487 | FKRP | c.520A>C (p.Ser174Arg) c.91A>C (p.Ser31Arg) n.247-5863A>C n.247+7305A>C | dbSNP gnomAD v4 |