| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135765706G>A | CA130389 | KCNT1 | c.1283G>A (p.Arg428Gln) n.10G>A n.22G>A c.1124G>A (p.Arg375Gln) c.1031G>A (p.Arg344Gln) c.1040G>A (p.Arg347Gln) c.1184G>A (p.Arg395Gln) c.*893G>A (n.*893G>A) c.1166G>A (p.Arg389Gln) c.1226G>A (p.Arg409Gln) n.1102G>A c.1148G>A (p.Arg383Gln) c.1418G>A (p.Arg473Gln) c.1427G>A (p.Arg476Gln) c.773G>A (p.Arg258Gln) c.1217G>A (p.Arg406Gln) | ClinVar dbSNP |
| 9 | g.135765706G>T | CA375501543 | KCNT1 | c.1283G>T (p.Arg428Leu) n.10G>T n.22G>T c.1124G>T (p.Arg375Leu) c.1031G>T (p.Arg344Leu) c.1040G>T (p.Arg347Leu) c.1184G>T (p.Arg395Leu) c.*893G>T (n.*893G>T) c.1166G>T (p.Arg389Leu) c.1226G>T (p.Arg409Leu) n.1102G>T c.1148G>T (p.Arg383Leu) c.1418G>T (p.Arg473Leu) c.1427G>T (p.Arg476Leu) c.773G>T (p.Arg258Leu) c.1217G>T (p.Arg406Leu) | dbSNP gnomAD v4 |
| 9 | g.135765706G= | CA1883866688 | KCNT1 | c.1283G= (p.Arg428=) n.10G= n.22G= c.1124G= (p.Arg375=) c.1031G= (p.Arg344=) c.1040G= (p.Arg347=) c.1184G= (p.Arg395=) c.*893G= (n.*893G=) c.1166G= (p.Arg389=) c.1226G= (p.Arg409=) n.1102G= c.1148G= (p.Arg383=) c.1418G= (p.Arg473=) c.1427G= (p.Arg476=) c.773G= (p.Arg258=) c.1217G= (p.Arg406=) | dbSNP |