| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.5044966T>A | CA478095439 | KCNA5 | c.819T>A (p.Pro273=) | |
| 12 | g.5044966T>C | CA478095442 | KCNA5 | c.819T>C (p.Pro273=) | |
| 12 | g.5044966T>G | CA478095440 | KCNA5 | c.819T>G (p.Pro273=) | |
| 12 | g.5044967G>A | CA383465222 | KCNA5 | c.820G>A (p.Glu274Lys) | gnomAD v4 |
| 12 | g.5044967G>C | CA383465223 | KCNA5 | c.820G>C (p.Glu274Gln) | |
| 12 | g.5044967G>T | CA383465224 | KCNA5 | c.820G>T (p.Glu274Ter) | |
| 12 | g.5044968A>C | CA383465226 | KCNA5 | c.821A>C (p.Glu274Ala) | |
| 12 | g.5044968A>G | CA383465227 | KCNA5 | c.821A>G (p.Glu274Gly) | |
| 12 | g.5044968A>T | CA383465225 | KCNA5 | c.821A>T (p.Glu274Val) | gnomAD v4 |
| 12 | g.5044969G>A | CA478095449 | KCNA5 | c.822G>A (p.Glu274=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5044969G>C | CA383465228 | KCNA5 | c.822G>C (p.Glu274Asp) | |
| 12 | g.5044969G= | CA2013430982 | KCNA5 | c.822G= (p.Glu274=) | |
| 12 | g.5044969G>T | CA383465229 | KCNA5 | c.822G>T (p.Glu274Asp) | |
| 12 | g.5044970T>A | CA383465230 | KCNA5 | c.823T>A (p.Phe275Ile) | |
| 12 | g.5044970T>C | CA383465231 | KCNA5 | c.823T>C (p.Phe275Leu) | |
| 12 | g.5044970T>G | CA383465232 | KCNA5 | c.823T>G (p.Phe275Val) | |
| 12 | g.5044971T>A | CA383465233 | KCNA5 | c.824T>A (p.Phe275Tyr) | gnomAD v4 |
| 12 | g.5044971T>C | CA383465234 | KCNA5 | c.824T>C (p.Phe275Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5044971T>G | CA383465235 | KCNA5 | c.824T>G (p.Phe275Cys) | |
| 12 | g.5044971T= | CA2013430983 | KCNA5 | c.824T= (p.Phe275=) | |
| 12 | g.5044972C>A | CA231867903 | KCNA5 | c.825C>A (p.Phe275Leu) | dbSNP |
| 12 | g.5044972C= | CA2013430984 | KCNA5 | c.825C= (p.Phe275=) | |
| 12 | g.5044972C>G | CA383465236 | KCNA5 | c.825C>G (p.Phe275Leu) | gnomAD v4 |
| 12 | g.5044972C>T | CA478095455 | KCNA5 | c.825C>T (p.Phe275=) | |
| 12 | g.5044973A>C | CA478095456 | KCNA5 | c.826A>C (p.Arg276=) | |
| 12 | g.5044973A>G | CA383465237 | KCNA5 | c.826A>G (p.Arg276Gly) | |
| 12 | g.5044973A>T | CA383465238 | KCNA5 | c.826A>T (p.Arg276Trp) | |
| 12 | g.5044974G>A | CA6399723 | KCNA5 | c.827G>A (p.Arg276Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5044974G>C | CA383465239 | KCNA5 | c.827G>C (p.Arg276Thr) | |
| 12 | g.5044974G= | CA2013430985 | KCNA5 | c.827G= (p.Arg276=) | |
| 12 | g.5044974G>T | CA383465240 | KCNA5 | c.827G>T (p.Arg276Met) | |
| 12 | g.5044975G>A | CA6399724 | KCNA5 | c.828G>A (p.Arg276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5044975G>C | CA383465242 | KCNA5 | c.828G>C (p.Arg276Ser) | |
| 12 | g.5044975G= | CA2013430986 | KCNA5 | c.828G= (p.Arg276=) | |
| 12 | g.5044975G>T | CA383465241 | KCNA5 | c.828G>T (p.Arg276Ser) | |
| 12 | g.5044976G>A | CA6399725 | KCNA5 | c.829G>A (p.Asp277Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5044976G>C | CA383465243 | KCNA5 | c.829G>C (p.Asp277His) | dbSNP gnomAD v4 |
| 12 | g.5044976G= | CA2013430987 | KCNA5 | c.829G= (p.Asp277=) | |
| 12 | g.5044976G>T | CA383465244 | KCNA5 | c.829G>T (p.Asp277Tyr) | gnomAD v4 |
| 12 | g.5044977A= | CA2013430988 | KCNA5 | c.830A= (p.Asp277=) | |
| 12 | g.5044977A>C | CA383465245 | KCNA5 | c.830A>C (p.Asp277Ala) | |
| 12 | g.5044977A>G | CA231867923 | KCNA5 | c.830A>G (p.Asp277Gly) | ClinVar dbSNP gnomAD v4 |
| 12 | g.5044977A>T | CA383465246 | KCNA5 | c.830A>T (p.Asp277Val) | |
| 12 | g.5044978T>A | CA383465247 | KCNA5 | c.831T>A (p.Asp277Glu) | gnomAD v4 |
| 12 | g.5044978T>C | CA478095197 | KCNA5 | c.831T>C (p.Asp277=) | gnomAD v4 |
| 12 | g.5044978T>G | CA383465248 | KCNA5 | c.831T>G (p.Asp277Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5044978T= | CA2013430989 | KCNA5 | c.831T= (p.Asp277=) | |
| 12 | g.5044979G>A | CA383465249 | KCNA5 | c.832G>A (p.Glu278Lys) | |
| 12 | g.5044979G>C | CA383465250 | KCNA5 | c.832G>C (p.Glu278Gln) | |
| 12 | g.5044979G>T | CA383465251 | KCNA5 | c.832G>T (p.Glu278Ter) |