| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431629G>A | CA345144942 | ACTA1 | c.991-65C>T (n.991-65C>T) c.869C>T (p.Pro290Leu) c.635C>T (p.Pro212Leu) c.1004C>T (p.Pro335Leu) | ClinVar dbSNP |
| 1 | g.229431629G>C | CA345144937 | ACTA1 | c.991-65C>G (n.991-65C>G) c.869C>G (p.Pro290Arg) c.635C>G (p.Pro212Arg) c.1004C>G (p.Pro335Arg) | ClinVar dbSNP |
| 1 | g.229431629G>T | CA16042312 | ACTA1 | c.991-65C>A (n.991-65C>A) c.869C>A (p.Pro290Gln) c.635C>A (p.Pro212Gln) c.1004C>A (p.Pro335Gln) | ClinVar dbSNP |