| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63406712del | CA16620959 | KCNQ2 | c.2609del (p.Pro870ArgfsTer?) c.2555del (p.Pro852ArgfsTer?) c.1952del (p.Pro651ArgfsTer?) c.2462del (p.Pro821ArgfsTer?) c.2123del (p.Pro708ArgfsTer?) c.2471del (p.Pro824ArgfsTer?) c.2241+338del (n.2241+338del) c.2205+338del (n.2205+338del) c.2501del (p.Pro834ArgfsTer?) c.2133+338del (n.2133+338del) c.1680-5865del (n.1680-5865del) c.2597del (p.Pro866ArgfsTer?) c.2663del (p.Pro888ArgfsTer?) c.2660del (p.Pro887ArgfsTer?) c.2633del (p.Pro878ArgfsTer?) c.2579del (p.Pro860ArgfsTer?) c.2552del (p.Pro851ArgfsTer?) c.2537del (p.Pro846ArgfsTer?) c.2144del (p.Pro715ArgfsTer?) c.2606del (p.Pro869ArgfsTer?) c.2543del (p.Pro848ArgfsTer?) c.2540del (p.Pro847ArgfsTer?) c.2498del (p.Pro833ArgfsTer?) c.1571del (p.Pro524ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63406712dup | CA2580098388 | KCNQ2 | c.2609dup (p.Pro871AlafsTer12) c.2555dup (p.Pro853AlafsTer12) c.1952dup (p.Pro652AlafsTer12) c.2462dup (p.Pro822AlafsTer12) c.2123dup (p.Pro709AlafsTer12) c.2471dup (p.Pro825AlafsTer12) c.2241+338dup (n.2241+338dup) c.2205+338dup (n.2205+338dup) c.2501dup (p.Pro835AlafsTer12) c.2133+338dup (n.2133+338dup) c.1680-5865dup (n.1680-5865dup) c.2597dup (p.Pro867AlafsTer12) c.2663dup (p.Pro889AlafsTer12) c.2660dup (p.Pro888AlafsTer12) c.2633dup (p.Pro879AlafsTer12) c.2579dup (p.Pro861AlafsTer12) c.2552dup (p.Pro852AlafsTer12) c.2537dup (p.Pro847AlafsTer12) c.2144dup (p.Pro716AlafsTer12) c.2606dup (p.Pro870AlafsTer12) c.2543dup (p.Pro849AlafsTer12) c.2540dup (p.Pro848AlafsTer12) c.2498dup (p.Pro834AlafsTer12) c.1571dup (p.Pro525AlafsTer12) | ClinVar dbSNP |