| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135765732C>T | CA16042762 | KCNT1 | c.1309C>T (p.Leu437Phe) n.36C>T n.48C>T c.1150C>T (p.Leu384Phe) c.1057C>T (p.Leu353Phe) c.1066C>T (p.Leu356Phe) c.1210C>T (p.Leu404Phe) c.*919C>T (n.*919C>T) c.1192C>T (p.Leu398Phe) c.1252C>T (p.Leu418Phe) n.1128C>T c.1174C>T (p.Leu392Phe) c.1444C>T (p.Leu482Phe) c.1453C>T (p.Leu485Phe) c.799C>T (p.Leu267Phe) c.1243C>T (p.Leu415Phe) | ClinVar dbSNP |
| 9 | g.135765732C>A | CA375501710 | KCNT1 | c.1309C>A (p.Leu437Ile) n.36C>A n.48C>A c.1150C>A (p.Leu384Ile) c.1057C>A (p.Leu353Ile) c.1066C>A (p.Leu356Ile) c.1210C>A (p.Leu404Ile) c.*919C>A (n.*919C>A) c.1192C>A (p.Leu398Ile) c.1252C>A (p.Leu418Ile) n.1128C>A c.1174C>A (p.Leu392Ile) c.1444C>A (p.Leu482Ile) c.1453C>A (p.Leu485Ile) c.799C>A (p.Leu267Ile) c.1243C>A (p.Leu415Ile) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135765732C= | CA1883866697 | KCNT1 | c.1309C= (p.Leu437=) n.36C= n.48C= c.1150C= (p.Leu384=) c.1057C= (p.Leu353=) c.1066C= (p.Leu356=) c.1210C= (p.Leu404=) c.*919C= (n.*919C=) c.1192C= (p.Leu398=) c.1252C= (p.Leu418=) n.1128C= c.1174C= (p.Leu392=) c.1444C= (p.Leu482=) c.1453C= (p.Leu485=) c.799C= (p.Leu267=) c.1243C= (p.Leu415=) | dbSNP |