| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.5045066C>A | CA383465413 | KCNA5 | c.919C>A (p.Pro307Thr) | |
| 12 | g.5045066C= | CA2013431048 | KCNA5 | c.919C= (p.Pro307=) | |
| 12 | g.5045066C>G | CA383465414 | KCNA5 | c.919C>G (p.Pro307Ala) | |
| 12 | g.5045066C>T | CA199821 | KCNA5 | c.919C>T (p.Pro307Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045067C>A | CA383465415 | KCNA5 | c.920C>A (p.Pro307His) | |
| 12 | g.5045067C= | CA2013431049 | KCNA5 | c.920C= (p.Pro307=) | |
| 12 | g.5045067C>G | CA383465416 | KCNA5 | c.920C>G (p.Pro307Arg) | |
| 12 | g.5045067C>T | CA383465417 | KCNA5 | c.920C>T (p.Pro307Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5045068C>A | CA478095307 | KCNA5 | c.921C>A (p.Pro307=) | |
| 12 | g.5045068C= | CA2013431050 | KCNA5 | c.921C= (p.Pro307=) | |
| 12 | g.5045068C>G | CA6399758 | KCNA5 | c.921C>G (p.Pro307=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045068C>T | CA478095308 | KCNA5 | c.921C>T (p.Pro307=) | dbSNP gnomAD v4 |
| 12 | g.5045069del | CA645578788 | KCNA5 | c.922del (p.Ser308LeufsTer?) | COSMIC |
| 12 | g.5045069T>A | CA383465420 | KCNA5 | c.922T>A (p.Ser308Thr) | |
| 12 | g.5045069T>C | CA383465419 | KCNA5 | c.922T>C (p.Ser308Pro) | |
| 12 | g.5045069T>G | CA383465418 | KCNA5 | c.922T>G (p.Ser308Ala) | |
| 12 | g.5045070C>A | CA383465421 | KCNA5 | c.923C>A (p.Ser308Tyr) | |
| 12 | g.5045070C>G | CA383465422 | KCNA5 | c.923C>G (p.Ser308Cys) | |
| 12 | g.5045070C>T | CA383465423 | KCNA5 | c.923C>T (p.Ser308Phe) | |
| 12 | g.5045071T>A | CA478095309 | KCNA5 | c.924T>A (p.Ser308=) | |
| 12 | g.5045071T>C | CA478095310 | KCNA5 | c.924T>C (p.Ser308=) | dbSNP gnomAD v2 |
| 12 | g.5045071T>G | CA478095311 | KCNA5 | c.924T>G (p.Ser308=) | |
| 12 | g.5045071T= | CA2013431051 | KCNA5 | c.924T= (p.Ser308=) | |
| 12 | g.5045072G>A | CA383465424 | KCNA5 | c.925G>A (p.Gly309Ser) | gnomAD v4 |
| 12 | g.5045072G>C | CA383465425 | KCNA5 | c.925G>C (p.Gly309Arg) | |
| 12 | g.5045072G>T | CA383465426 | KCNA5 | c.925G>T (p.Gly309Cys) | |
| 12 | g.5045073G>A | CA6399759 | KCNA5 | c.926G>A (p.Gly309Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045073G>C | CA383465427 | KCNA5 | c.926G>C (p.Gly309Ala) | |
| 12 | g.5045073G= | CA2013431052 | KCNA5 | c.926G= (p.Gly309=) | |
| 12 | g.5045073G>T | CA383465428 | KCNA5 | c.926G>T (p.Gly309Val) | |
| 12 | g.5045074C>A | CA478095314 | KCNA5 | c.927C>A (p.Gly309=) | dbSNP |
| 12 | g.5045074C= | CA2013431053 | KCNA5 | c.927C= (p.Gly309=) | |
| 12 | g.5045074C>G | CA478095315 | KCNA5 | c.927C>G (p.Gly309=) | |
| 12 | g.5045074C>T | CA6399760 | KCNA5 | c.927C>T (p.Gly309=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5045075C>A | CA383465429 | KCNA5 | c.928C>A (p.Pro310Thr) | |
| 12 | g.5045075C>G | CA383465430 | KCNA5 | c.928C>G (p.Pro310Ala) | |
| 12 | g.5045075C>T | CA383465431 | KCNA5 | c.928C>T (p.Pro310Ser) | |
| 12 | g.5045076C>A | CA383465432 | KCNA5 | c.929C>A (p.Pro310His) | |
| 12 | g.5045076C= | CA1630855460 | KCNA5 | c.929C= (p.Pro310=) | |
| 12 | g.5045076C>G | CA383465433 | KCNA5 | c.929C>G (p.Pro310Arg) | dbSNP |
| 12 | g.5045076C>T | CA199947 | KCNA5 | c.929C>T (p.Pro310Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045077T>A | CA478095319 | KCNA5 | c.930T>A (p.Pro310=) | dbSNP COSMIC |
| 12 | g.5045077T>C | CA478095318 | KCNA5 | c.930T>C (p.Pro310=) | |
| 12 | g.5045077T>G | CA478095317 | KCNA5 | c.930T>G (p.Pro310=) | |
| 12 | g.5045077T= | CA2013431054 | KCNA5 | c.930T= (p.Pro310=) | |
| 12 | g.5045078A= | CA2013431055 | KCNA5 | c.931A= (p.Thr311=) | |
| 12 | g.5045078A>C | CA383465434 | KCNA5 | c.931A>C (p.Thr311Pro) | |
| 12 | g.5045078A>G | CA383465436 | KCNA5 | c.931A>G (p.Thr311Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5045078A>T | CA383465435 | KCNA5 | c.931A>T (p.Thr311Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5045079C>A | CA383465437 | KCNA5 | c.932C>A (p.Thr311Lys) | dbSNP gnomAD v4 COSMIC |