| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171652468C>A | CA119183 | MYOC | c.144G>T (p.Gln48His) c.130+14G>T (n.130+14G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.171652468C= | CA1140886916 | MYOC | c.144G= (p.Gln48=) c.130+14G= (n.130+14G=) | dbSNP |
| 1 | g.171652468C>G | CA343719597 | MYOC | c.144G>C (p.Gln48His) c.130+14G>C (n.130+14G>C) | dbSNP |