| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.68925641C>T | CA130967 | ACTN1 | c.-59G>A (n.-59G>A) n.425G>A c.137G>A (p.Arg46Gln) n.231G>A c.134G>A (p.Arg45Gln) c.74G>A (p.Arg25Gln) c.68G>A (p.Arg23Gln) c.224G>A (p.Arg75Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 14 | g.68925641C= | CA2144526310 | ACTN1 | c.-59G= (n.-59G=) n.425G= c.137G= (p.Arg46=) n.231G= c.134G= (p.Arg45=) c.74G= (p.Arg25=) c.68G= (p.Arg23=) c.224G= (p.Arg75=) | dbSNP |