| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46765116G>T | CA14728372 | FKRP,SLC1A5 | n.248-11536G>T c.1389-4721C>A (n.1389-4721C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46765116G= | CA2339071506 | FKRP,SLC1A5 | n.248-11536G= c.1389-4721C= (n.1389-4721C=) | dbSNP |