| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756773T>C | CA507976018 | FKRP | c.1323T>C (p.Phe441=) n.247-5060T>C n.247+8108T>C | ClinVar dbSNP |
| 19 | g.46756773T>G | CA10606861 | FKRP | c.1323T>G (p.Phe441Leu) n.247-5060T>G n.247+8108T>G | ClinVar dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756773T>C | CA507976018 | FKRP | c.1323T>C (p.Phe441=) n.247-5060T>C n.247+8108T>C | ClinVar dbSNP |
| 19 | g.46756773T>G | CA10606861 | FKRP | c.1323T>G (p.Phe441Leu) n.247-5060T>G n.247+8108T>G | ClinVar dbSNP |