Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.11819590C>T | CA117143 | LPIN1 | c.2509C>T (p.Arg837Ter) c.2401C>T (p.Arg801Ter) c.2527C>T (p.Arg843Ter) c.*416C>T (n.*416C>T) n.1994C>T c.2419C>T (p.Arg807Ter) c.2656C>T (p.Arg886Ter) n.3438C>T c.2548C>T (p.Arg850Ter) c.2653C>T (p.Arg885Ter) c.2479C>T (p.Arg827Ter) c.2506C>T (p.Arg836Ter) c.2599C>T (p.Arg867Ter) n.2497C>T c.2578C>T (p.Arg860Ter) n.2450C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.11819590C>A | CA1534114 | LPIN1 | c.2509C>A (p.Arg837=) c.2401C>A (p.Arg801=) c.2527C>A (p.Arg843=) c.*416C>A (n.*416C>A) n.1994C>A c.2419C>A (p.Arg807=) c.2656C>A (p.Arg886=) n.3438C>A c.2548C>A (p.Arg850=) c.2653C>A (p.Arg885=) c.2479C>A (p.Arg827=) c.2506C>A (p.Arg836=) c.2599C>A (p.Arg867=) n.2497C>A c.2578C>A (p.Arg860=) n.2450C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |