Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|

1 | g.156138719C>T | CA014882 | LMNA | c.1594C>T (p.Arg532Cys) c.1818+112C>T (p.=) c.1930C>T (p.Arg644Cys) c.1840C>T (p.Arg614Cys) c.1306C>T (p.Arg436Cys) n.2219C>T n.2217C>T c.1633C>T (p.Arg545Cys) n.2143C>T n.514C>T n.718C>T (p.Arg240Cys) | ClinVar dbSNP ExAC gnomAD COSMIC |

1 | g.156138719C>A | CA015174 | LMNA | c.1594C>A (p.Arg532Ser) c.1818+112C>A (p.=) c.1930C>A (p.Arg644Ser) c.1840C>A (p.Arg614Ser) c.1306C>A (p.Arg436Ser) n.2219C>A n.2217C>A c.1633C>A (p.Arg545Ser) n.2143C>A n.514C>A n.718C>A (p.Arg240Ser) | ClinVar dbSNP |