| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.5045161_5045181delinsGCTGCTCGTGCGCTTCTTCGC | CA2013431102 | KCNA5 | c.1014_1034delinsGCTGCTCGTGCGCTTCTTCGC (p.Glu338=) | |
| 12 | g.5045166_5045185del | CA2013431103 | KCNA5 | c.1019_1038del (p.Leu340ProfsTer?) | dbSNP gnomAD v4 |
| 12 | g.5045170G>A | CA6399789 | KCNA5 | c.1023G>A (p.Val341=) | dbSNP ExAC gnomAD v4 |
| 12 | g.5045170G>C | CA478095567 | KCNA5 | c.1023G>C (p.Val341=) | |
| 12 | g.5045170G= | CA2013431109 | KCNA5 | c.1023G= (p.Val341=) | |
| 12 | g.5045170G>T | CA478095569 | KCNA5 | c.1023G>T (p.Val341=) | |
| 12 | g.5045171C>A | CA383465611 | KCNA5 | c.1024C>A (p.Arg342Ser) | ClinVar COSMIC |
| 12 | g.5045171C= | CA2013431110 | KCNA5 | c.1024C= (p.Arg342=) | |
| 12 | g.5045171C>G | CA383465612 | KCNA5 | c.1024C>G (p.Arg342Gly) | |
| 12 | g.5045171C>T | CA383465613 | KCNA5 | c.1024C>T (p.Arg342Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5045172G>A | CA383465615 | KCNA5 | c.1025G>A (p.Arg342His) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.5045172G>C | CA383465616 | KCNA5 | c.1025G>C (p.Arg342Pro) | |
| 12 | g.5045172G= | CA2013431111 | KCNA5 | c.1025G= (p.Arg342=) | |
| 12 | g.5045172G>T | CA383465614 | KCNA5 | c.1025G>T (p.Arg342Leu) | ClinVar dbSNP COSMIC |
| 12 | g.5045173C>A | CA478095572 | KCNA5 | c.1026C>A (p.Arg342=) | |
| 12 | g.5045173C>G | CA478095574 | KCNA5 | c.1026C>G (p.Arg342=) | |
| 12 | g.5045173C>T | CA478095573 | KCNA5 | c.1026C>T (p.Arg342=) | gnomAD v4 |
| 12 | g.5045174T>A | CA383465617 | KCNA5 | c.1027T>A (p.Phe343Ile) | |
| 12 | g.5045174T>C | CA383465618 | KCNA5 | c.1027T>C (p.Phe343Leu) | |
| 12 | g.5045174T>G | CA383465619 | KCNA5 | c.1027T>G (p.Phe343Val) | |
| 12 | g.5045175T>A | CA383465620 | KCNA5 | c.1028T>A (p.Phe343Tyr) | |
| 12 | g.5045175T>C | CA383465621 | KCNA5 | c.1028T>C (p.Phe343Ser) | |
| 12 | g.5045175T>G | CA383465622 | KCNA5 | c.1028T>G (p.Phe343Cys) | |
| 12 | g.5045176C>A | CA383465624 | KCNA5 | c.1029C>A (p.Phe343Leu) | |
| 12 | g.5045176C>G | CA383465623 | KCNA5 | c.1029C>G (p.Phe343Leu) | |
| 12 | g.5045176C>T | CA478095577 | KCNA5 | c.1029C>T (p.Phe343=) | gnomAD v4 |
| 12 | g.5045177T>A | CA383465625 | KCNA5 | c.1030T>A (p.Phe344Ile) | |
| 12 | g.5045177T>C | CA383465626 | KCNA5 | c.1030T>C (p.Phe344Leu) | |
| 12 | g.5045177T>G | CA383465627 | KCNA5 | c.1030T>G (p.Phe344Val) | |
| 12 | g.5045178T>A | CA383465628 | KCNA5 | c.1031T>A (p.Phe344Tyr) | |
| 12 | g.5045178T>C | CA383465629 | KCNA5 | c.1031T>C (p.Phe344Ser) | gnomAD v4 |
| 12 | g.5045178T>G | CA383465630 | KCNA5 | c.1031T>G (p.Phe344Cys) | |
| 12 | g.5045179C>A | CA383465631 | KCNA5 | c.1032C>A (p.Phe344Leu) | |
| 12 | g.5045179C= | CA2013431112 | KCNA5 | c.1032C= (p.Phe344=) | |
| 12 | g.5045179C>G | CA383465632 | KCNA5 | c.1032C>G (p.Phe344Leu) | |
| 12 | g.5045179C>T | CA6399790 | KCNA5 | c.1032C>T (p.Phe344=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.5045180G>A | CA383465633 | KCNA5 | c.1033G>A (p.Ala345Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.5045180G>C | CA383465634 | KCNA5 | c.1033G>C (p.Ala345Pro) | |
| 12 | g.5045180G= | CA2013431113 | KCNA5 | c.1033G= (p.Ala345=) | |
| 12 | g.5045180G>T | CA383465635 | KCNA5 | c.1033G>T (p.Ala345Ser) | |
| 12 | g.5045181C>A | CA383465636 | KCNA5 | c.1034C>A (p.Ala345Asp) | |
| 12 | g.5045181C>G | CA383465637 | KCNA5 | c.1034C>G (p.Ala345Gly) | |
| 12 | g.5045181C>T | CA383465638 | KCNA5 | c.1034C>T (p.Ala345Val) | |
| 12 | g.5045182C>A | CA478095585 | KCNA5 | c.1035C>A (p.Ala345=) | |
| 12 | g.5045182C>G | CA478095586 | KCNA5 | c.1035C>G (p.Ala345=) | |
| 12 | g.5045182C>T | CA478095587 | KCNA5 | c.1035C>T (p.Ala345=) | |
| 12 | g.5045183T>A | CA383465639 | KCNA5 | c.1036T>A (p.Cys346Ser) | |
| 12 | g.5045183T>C | CA383465640 | KCNA5 | c.1036T>C (p.Cys346Arg) | dbSNP gnomAD v4 |
| 12 | g.5045183T>G | CA383465641 | KCNA5 | c.1036T>G (p.Cys346Gly) | |
| 12 | g.5045184G>A | CA383465642 | KCNA5 | c.1037G>A (p.Cys346Tyr) |