| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178785990G>A | CA256505 | TTN | c.2228C>T (p.Ala743Val) c.2090C>T (p.Ala697Val) c.2276C>T (p.Ala759Val) c.2135C>T (p.Ala712Val) c.2273C>T (p.Ala758Val) c.2231C>T (p.Ala744Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178785990G>C | CA349500788 | TTN | c.2228C>G (p.Ala743Gly) c.2090C>G (p.Ala697Gly) c.2276C>G (p.Ala759Gly) c.2135C>G (p.Ala712Gly) c.2273C>G (p.Ala758Gly) c.2231C>G (p.Ala744Gly) | dbSNP |
| 2 | g.178785990G= | CA1310621674 | TTN | c.2228C= (p.Ala743=) c.2090C= (p.Ala697=) c.2276C= (p.Ala759=) c.2135C= (p.Ala712=) c.2273C= (p.Ala758=) c.2231C= (p.Ala744=) | dbSNP |