| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756396C>T | CA245434 | FKRP | c.946C>T (p.Pro316Ser) n.247-5437C>T n.247+7731C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756396C>G | CA406496337 | FKRP | c.946C>G (p.Pro316Ala) n.247-5437C>G n.247+7731C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756396C>A | CA116706 | FKRP | c.946C>A (p.Pro316Thr) n.247-5437C>A n.247+7731C>A | ClinVar dbSNP gnomAD v4 |