| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156134508C>T | CA342817053 | LMNA | c.61C>T (p.Gln21Ter) c.619C>T (p.Gln207Ter) n.994C>T c.-46C>T (n.-46C>T) c.*418C>T (n.*418C>T) n.312C>T c.*419C>T (n.*419C>T) c.*90C>T (n.*90C>T) c.376C>T (p.Gln126Ter) c.283C>T (p.Gln95Ter) c.322C>T (p.Gln108Ter) n.517C>T c.370C>T (p.Gln124Ter) c.*293C>T (n.*293C>T) n.868C>T n.866C>T | ClinVar dbSNP |
| 1 | g.156134508C= | CA1200471402 | LMNA | c.61C= (p.Gln21=) c.619C= (p.Gln207=) n.994C= c.-46C= (n.-46C=) c.*418C= (n.*418C=) n.312C= c.*419C= (n.*419C=) c.*90C= (n.*90C=) c.376C= (p.Gln126=) c.283C= (p.Gln95=) c.322C= (p.Gln108=) n.517C= c.370C= (p.Gln124=) c.*293C= (n.*293C=) n.868C= n.866C= | dbSNP |