Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63413535G>A | CA315471 | KCNQ2 | c.1624C>T (p.Arg542Trp) c.1678C>T (p.Arg560Trp) c.1075C>T (p.Arg359Trp) c.1585C>T (p.Arg529Trp) c.1246C>T (p.Arg416Trp) c.1594C>T (p.Arg532Trp) c.1558C>T (p.Arg520Trp) c.286C>T (p.Arg96Trp) c.1675C>T (p.Arg559Trp) c.1648C>T (p.Arg550Trp) c.1552C>T (p.Arg518Trp) c.1159C>T (p.Arg387Trp) c.1621C>T (p.Arg541Trp) c.1555C>T (p.Arg519Trp) c.586C>T (p.Arg196Trp) | ClinVar dbSNP gnomAD v4 |
20 | g.63413535G>T | CA9958329 | KCNQ2 | c.1624C>A (p.Arg542=) c.1678C>A (p.Arg560=) c.1075C>A (p.Arg359=) c.1585C>A (p.Arg529=) c.1246C>A (p.Arg416=) c.1594C>A (p.Arg532=) c.1558C>A (p.Arg520=) c.286C>A (p.Arg96=) c.1675C>A (p.Arg559=) c.1648C>A (p.Arg550=) c.1552C>A (p.Arg518=) c.1159C>A (p.Arg387=) c.1621C>A (p.Arg541=) c.1555C>A (p.Arg519=) c.586C>A (p.Arg196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |