| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756420G>A | CA406496381 | FKRP | c.970G>A (p.Glu324Lys) n.247-5413G>A n.247+7755G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756420G>C | CA406496382 | FKRP | c.970G>C (p.Glu324Gln) n.247-5413G>C n.247+7755G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.46756420G>T | CA10606452 | FKRP | c.970G>T (p.Glu324Ter) n.247-5413G>T n.247+7755G>T | ClinVar dbSNP gnomAD v4 |