| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135765188G>A | CA343804 | KCNT1 | c.1193G>A (p.Arg398Gln) c.1034G>A (p.Arg345Gln) c.941G>A (p.Arg314Gln) c.950G>A (p.Arg317Gln) c.1094G>A (p.Arg365Gln) c.*803G>A (n.*803G>A) c.1076G>A (p.Arg359Gln) c.1136G>A (p.Arg379Gln) n.1012G>A c.1058G>A (p.Arg353Gln) c.1328G>A (p.Arg443Gln) c.1337G>A (p.Arg446Gln) c.683G>A (p.Arg228Gln) c.1127G>A (p.Arg376Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135765188G= | CA1883866363 | KCNT1 | c.1193G= (p.Arg398=) c.1034G= (p.Arg345=) c.941G= (p.Arg314=) c.950G= (p.Arg317=) c.1094G= (p.Arg365=) c.*803G= (n.*803G=) c.1076G= (p.Arg359=) c.1136G= (p.Arg379=) n.1012G= c.1058G= (p.Arg353=) c.1328G= (p.Arg443=) c.1337G= (p.Arg446=) c.683G= (p.Arg228=) c.1127G= (p.Arg376=) | dbSNP |