| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.68880030G>C | CA390181676 | ACTN1 | n.2317C>G c.2212C>G (p.Arg738Gly) n.2585C>G c.2029C>G (p.Arg677Gly) n.2500C>G n.2101C>G c.*1665C>G (n.*1665C>G) n.2412C>G c.2236C>G (p.Arg746Gly) c.2017C>G (p.Arg673Gly) c.*1490C>G (n.*1490C>G) n.3058C>G n.1478C>G c.2092C>G (p.Arg698Gly) c.2119C>G (p.Arg707Gly) c.799C>G (p.Arg267Gly) c.530C>G c.369C>G n.3666C>G n.392C>G c.2323C>G (p.Arg775Gly) c.2299C>G (p.Arg767Gly) c.2173C>G (p.Arg725Gly) c.2149C>G (p.Arg717Gly) | ClinVar dbSNP |
| 14 | g.68880030G>A | CA130970 | ACTN1 | n.2317C>T c.2212C>T (p.Arg738Trp) n.2585C>T c.2029C>T (p.Arg677Trp) n.2500C>T n.2101C>T c.*1665C>T (n.*1665C>T) n.2412C>T c.2236C>T (p.Arg746Trp) c.2017C>T (p.Arg673Trp) c.*1490C>T (n.*1490C>T) n.3058C>T n.1478C>T c.2092C>T (p.Arg698Trp) c.2119C>T (p.Arg707Trp) c.799C>T (p.Arg267Trp) c.530C>T c.369C>T n.3666C>T n.392C>T c.2323C>T (p.Arg775Trp) c.2299C>T (p.Arg767Trp) c.2173C>T (p.Arg725Trp) c.2149C>T (p.Arg717Trp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |