| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63959270G>C | CA253653 | SCN4A | c.2014C>G (p.Arg672Gly) | ClinVar dbSNP |
| 17 | g.63959270G>A | CA341668 | SCN4A | c.2014C>T (p.Arg672Cys) | ClinVar dbSNP COSMIC |
| 17 | g.63959270G>T | CA253654 | SCN4A | c.2014C>A (p.Arg672Ser) | ClinVar dbSNP |
| 17 | g.63959270G= | CA2270169512 | SCN4A | c.2014C= (p.Arg672=) | dbSNP |