| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63413555C>G | CA409643977 | KCNQ2 | c.1604G>C (p.Arg535Pro) c.1658G>C (p.Arg553Pro) c.1055G>C (p.Arg352Pro) c.1565G>C (p.Arg522Pro) c.1226G>C (p.Arg409Pro) c.1574G>C (p.Arg525Pro) c.1538G>C (p.Arg513Pro) c.266G>C (p.Arg89Pro) c.1655G>C (p.Arg552Pro) c.1628G>C (p.Arg543Pro) c.1532G>C (p.Arg511Pro) c.1139G>C (p.Arg380Pro) c.1601G>C (p.Arg534Pro) c.1535G>C (p.Arg512Pro) c.566G>C (p.Arg189Pro) | ClinVar dbSNP |
| 20 | g.63413555C>T | CA315465 | KCNQ2 | c.1604G>A (p.Arg535Gln) c.1658G>A (p.Arg553Gln) c.1055G>A (p.Arg352Gln) c.1565G>A (p.Arg522Gln) c.1226G>A (p.Arg409Gln) c.1574G>A (p.Arg525Gln) c.1538G>A (p.Arg513Gln) c.266G>A (p.Arg89Gln) c.1655G>A (p.Arg552Gln) c.1628G>A (p.Arg543Gln) c.1532G>A (p.Arg511Gln) c.1139G>A (p.Arg380Gln) c.1601G>A (p.Arg534Gln) c.1535G>A (p.Arg512Gln) c.566G>A (p.Arg189Gln) | ClinVar dbSNP |
| 20 | g.63413555C>A | CA10654783 | KCNQ2 | c.1604G>T (p.Arg535Leu) c.1658G>T (p.Arg553Leu) c.1055G>T (p.Arg352Leu) c.1565G>T (p.Arg522Leu) c.1226G>T (p.Arg409Leu) c.1574G>T (p.Arg525Leu) c.1538G>T (p.Arg513Leu) c.266G>T (p.Arg89Leu) c.1655G>T (p.Arg552Leu) c.1628G>T (p.Arg543Leu) c.1532G>T (p.Arg511Leu) c.1139G>T (p.Arg380Leu) c.1601G>T (p.Arg534Leu) c.1535G>T (p.Arg512Leu) c.566G>T (p.Arg189Leu) | ClinVar dbSNP |