12 | g.5045037G>A | CA6399744 | KCNA5 | c.890G>A (p.Gly297Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045037G>C | CA383465362 | KCNA5 | c.890G>C (p.Gly297Ala)
| |
12 | g.5045037G= | CA2013431027 | KCNA5 | c.890G= (p.Gly297=)
| |
12 | g.5045037G>T | CA383465363 | KCNA5 | c.890G>T (p.Gly297Val)
| |
12 | g.5045038G>A | CA478095281 | KCNA5 | c.891G>A (p.Gly297=)
| dbSNP |
12 | g.5045038G>C | CA478095282 | KCNA5 | c.891G>C (p.Gly297=)
| |
12 | g.5045038G= | CA2013431028 | KCNA5 | c.891G= (p.Gly297=)
| |
12 | g.5045038G>T | CA478095283 | KCNA5 | c.891G>T (p.Gly297=)
| gnomAD v4 |
12 | g.5045039G>A | CA383465364 | KCNA5 | c.892G>A (p.Ala298Thr)
| |
12 | g.5045039G>C | CA383465365 | KCNA5 | c.892G>C (p.Ala298Pro)
| |
12 | g.5045039G>T | CA383465366 | KCNA5 | c.892G>T (p.Ala298Ser)
| |
12 | g.5045040C>A | CA383465367 | KCNA5 | c.893C>A (p.Ala298Asp)
| |
12 | g.5045040C>G | CA383465368 | KCNA5 | c.893C>G (p.Ala298Gly)
| |
12 | g.5045040C>T | CA383465369 | KCNA5 | c.893C>T (p.Ala298Val)
| |
12 | g.5045041C>A | CA478095284 | KCNA5 | c.894C>A (p.Ala298=)
| |
12 | g.5045041C>G | CA478095286 | KCNA5 | c.894C>G (p.Ala298=)
| |
12 | g.5045041C>T | CA478095285 | KCNA5 | c.894C>T (p.Ala298=)
| |
12 | g.5045042A>C | CA383465372 | KCNA5 | c.895A>C (p.Asn299His)
| |
12 | g.5045042A>G | CA383465370 | KCNA5 | c.895A>G (p.Asn299Asp)
| |
12 | g.5045042A>T | CA383465371 | KCNA5 | c.895A>T (p.Asn299Tyr)
| gnomAD v4 |
12 | g.5045043dup | CA2841912339 | KCNA5 | c.896dup (p.Asn299LysfsTer?)
| |
12 | g.5045043A>C | CA383465373 | KCNA5 | c.896A>C (p.Asn299Thr)
| |
12 | g.5045043A>G | CA383465374 | KCNA5 | c.896A>G (p.Asn299Ser)
| |
12 | g.5045043A>T | CA383465375 | KCNA5 | c.896A>T (p.Asn299Ile)
| |
12 | g.5045044C>A | CA383465376 | KCNA5 | c.897C>A (p.Asn299Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045044C= | CA2013431029 | KCNA5 | c.897C= (p.Asn299=)
| |
12 | g.5045044C>G | CA6399746 | KCNA5 | c.897C>G (p.Asn299Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045044C>T | CA6399745 | KCNA5 | c.897C>T (p.Asn299=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045047_5045052dup | CA2617209907 | KCNA5 | c.900_905dup (p.Gly302_Val303insSerGly)
| gnomAD v4 |
12 | g.5045045G>A | CA236719 | KCNA5 | c.898G>A (p.Gly300Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045045G>C | CA6399747 | KCNA5 | c.898G>C (p.Gly300Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045045G= | CA2013431030 | KCNA5 | c.898G= (p.Gly300=)
| |
12 | g.5045045G>T | CA383465377 | KCNA5 | c.898G>T (p.Gly300Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045046G>A | CA6399748 | KCNA5 | c.899G>A (p.Gly300Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045046G>C | CA383465378 | KCNA5 | c.899G>C (p.Gly300Ala)
| |
12 | g.5045046G= | CA2013431032 | KCNA5 | c.899G= (p.Gly300=)
| |
12 | g.5045046G>T | CA383465379 | KCNA5 | c.899G>T (p.Gly300Val)
| |
12 | g.5045048_5045050dup | CA2013431031 | KCNA5 | c.901_903dup (p.Ser301_Gly302insSer)
| dbSNP |
12 | g.5045047C>A | CA478095289 | KCNA5 | c.900C>A (p.Gly300=)
| |
12 | g.5045047C= | CA2013431033 | KCNA5 | c.900C= (p.Gly300=)
| |
12 | g.5045047C>G | CA478095288 | KCNA5 | c.900C>G (p.Gly300=)
| |
12 | g.5045047C>T | CA478095287 | KCNA5 | c.900C>T (p.Gly300=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045048A>C | CA383465381 | KCNA5 | c.901A>C (p.Ser301Arg)
| |
12 | g.5045048A>G | CA383465382 | KCNA5 | c.901A>G (p.Ser301Gly)
| |
12 | g.5045048A>T | CA383465380 | KCNA5 | c.901A>T (p.Ser301Cys)
| |
12 | g.5045049G>A | CA383465384 | KCNA5 | c.902G>A (p.Ser301Asn)
| |
12 | g.5045049G>C | CA383465383 | KCNA5 | c.902G>C (p.Ser301Thr)
| |
12 | g.5045049G>T | CA383465385 | KCNA5 | c.902G>T (p.Ser301Ile)
| |
12 | g.5045050C>A | CA383465386 | KCNA5 | c.903C>A (p.Ser301Arg)
| |
12 | g.5045050C= | CA2013431034 | KCNA5 | c.903C= (p.Ser301=)
| |
12 | g.5045050C>G | CA6399749 | KCNA5 | c.903C>G (p.Ser301Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045050C>T | CA6399750 | KCNA5 | c.903C>T (p.Ser301=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045051G>A | CA6399752 | KCNA5 | c.904G>A (p.Gly302Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045051G>C | CA6399751 | KCNA5 | c.904G>C (p.Gly302Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045051G= | CA2013431036 | KCNA5 | c.904G= (p.Gly302=)
| |
12 | g.5045051G>T | CA383465387 | KCNA5 | c.904G>T (p.Gly302Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045051_5045052delinsCA | CA916083285 | KCNA5 | c.904_905delinsCA (p.Gly302Gln)
| ClinVar dbSNP |
12 | g.5045051_5045052delinsGG | CA2013431035 | KCNA5 | c.904_905delinsGG (p.Gly302=)
| |
12 | g.5045052G>A | CA383465388 | KCNA5 | c.905G>A (p.Gly302Glu)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045052G>C | CA383465389 | KCNA5 | c.905G>C (p.Gly302Ala)
| |
12 | g.5045052G= | CA2013431037 | KCNA5 | c.905G= (p.Gly302=)
| |
12 | g.5045052G>T | CA383465390 | KCNA5 | c.905G>T (p.Gly302Val)
| |
12 | g.5045053G>A | CA6399753 | KCNA5 | c.906G>A (p.Gly302=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045053G>C | CA6399754 | KCNA5 | c.906G>C (p.Gly302=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045053G= | CA2013431038 | KCNA5 | c.906G= (p.Gly302=)
| |
12 | g.5045053G>T | CA478095290 | KCNA5 | c.906G>T (p.Gly302=)
| gnomAD v4 |
12 | g.5045054G>A | CA383465391 | KCNA5 | c.907G>A (p.Val303Ile)
| COSMIC |
12 | g.5045054G>C | CA383465392 | KCNA5 | c.907G>C (p.Val303Leu)
| gnomAD v4 |
12 | g.5045054G>T | CA383465393 | KCNA5 | c.907G>T (p.Val303Phe)
| |
12 | g.5045055T>A | CA383465395 | KCNA5 | c.908T>A (p.Val303Asp)
| |
12 | g.5045055T>C | CA383465394 | KCNA5 | c.908T>C (p.Val303Ala)
| gnomAD v3 gnomAD v4 |
12 | g.5045055T>G | CA6399755 | KCNA5 | c.908T>G (p.Val303Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045055T= | CA2013431039 | KCNA5 | c.908T= (p.Val303=)
| |
12 | g.5045056C>A | CA478095292 | KCNA5 | c.909C>A (p.Val303=)
| ClinVar gnomAD v4 |
12 | g.5045056C>G | CA478095293 | KCNA5 | c.909C>G (p.Val303=)
| |
12 | g.5045056C>T | CA478095291 | KCNA5 | c.909C>T (p.Val303=)
| gnomAD v4 COSMIC |
12 | g.5045057A>C | CA383465396 | KCNA5 | c.910A>C (p.Met304Leu)
| |
12 | g.5045057A>G | CA383465397 | KCNA5 | c.910A>G (p.Met304Val)
| |
12 | g.5045057A>T | CA383465398 | KCNA5 | c.910A>T (p.Met304Leu)
| |
12 | g.5045058T>A | CA383465399 | KCNA5 | c.911T>A (p.Met304Lys)
| COSMIC |
12 | g.5045058T>C | CA6399756 | KCNA5 | c.911T>C (p.Met304Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045058T>G | CA383465400 | KCNA5 | c.911T>G (p.Met304Arg)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045058T= | CA2013431040 | KCNA5 | c.911T= (p.Met304=)
| |
12 | g.5045059G>A | CA231868177 | KCNA5 | c.912G>A (p.Met304Ile)
| dbSNP gnomAD v2 |
12 | g.5045059G>C | CA383465401 | KCNA5 | c.912G>C (p.Met304Ile)
| |
12 | g.5045059G= | CA2013431041 | KCNA5 | c.912G= (p.Met304=)
| |
12 | g.5045059G>T | CA383465402 | KCNA5 | c.912G>T (p.Met304Ile)
| gnomAD v3 gnomAD v4 |
12 | g.5045060G>A | CA151378 | KCNA5 | c.913G>A (p.Ala305Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045060G>C | CA383465403 | KCNA5 | c.913G>C (p.Ala305Pro)
| |
12 | g.5045060G= | CA2013431042 | KCNA5 | c.913G= (p.Ala305=)
| |
12 | g.5045060G>T | CA383465404 | KCNA5 | c.913G>T (p.Ala305Ser)
| |
12 | g.5045060_5045062delinsGCC | CA2013431043 | KCNA5 | c.913_915delinsGCC (p.Ala305=)
| |
12 | g.5045061C>A | CA383465407 | KCNA5 | c.914C>A (p.Ala305Asp)
| |
12 | g.5045061C>G | CA383465406 | KCNA5 | c.914C>G (p.Ala305Gly)
| |
12 | g.5045061C>T | CA383465405 | KCNA5 | c.914C>T (p.Ala305Val)
| |
12 | g.5045063_5045064del | CA603482590 | KCNA5 | c.916_917del (p.Pro306AlafsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045062C>A | CA478095297 | KCNA5 | c.915C>A (p.Ala305=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045062C= | CA2013431044 | KCNA5 | c.915C= (p.Ala305=)
| |
12 | g.5045062C>G | CA478095299 | KCNA5 | c.915C>G (p.Ala305=)
| dbSNP |
12 | g.5045062C>T | CA478095298 | KCNA5 | c.915C>T (p.Ala305=)
| gnomAD v4 |
12 | g.5045063C>A | CA383465410 | KCNA5 | c.916C>A (p.Pro306Thr)
| |
12 | g.5045063C= | CA2013431045 | KCNA5 | c.916C= (p.Pro306=)
| |
12 | g.5045063C>G | CA383465408 | KCNA5 | c.916C>G (p.Pro306Ala)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045063C>T | CA383465409 | KCNA5 | c.916C>T (p.Pro306Ser)
| |
12 | g.5045064C>A | CA6399757 | KCNA5 | c.917C>A (p.Pro306Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045064C= | CA2013431046 | KCNA5 | c.917C= (p.Pro306=)
| |
12 | g.5045064C>G | CA383465411 | KCNA5 | c.917C>G (p.Pro306Arg)
| |
12 | g.5045064C>T | CA383465412 | KCNA5 | c.917C>T (p.Pro306Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045065G>A | CA478095301 | KCNA5 | c.918G>A (p.Pro306=)
| dbSNP gnomAD v4 COSMIC |
12 | g.5045065G>C | CA478095302 | KCNA5 | c.918G>C (p.Pro306=)
| |
12 | g.5045065G= | CA2013431047 | KCNA5 | c.918G= (p.Pro306=)
| |
12 | g.5045065G>T | CA478095303 | KCNA5 | c.918G>T (p.Pro306=)
| dbSNP gnomAD v4 |
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)
| ClinVar |
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 |
12 | g.5045079C= | CA2013431056 | KCNA5 | c.932C= (p.Thr311=)
| |
12 | g.5045079C>G | CA383465438 | KCNA5 | c.932C>G (p.Thr311Arg)
| gnomAD v4 |
12 | g.5045079C>T | CA6399761 | KCNA5 | c.932C>T (p.Thr311Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045079_5045080del | CA2617209908 | KCNA5 | c.932_933del (p.Thr311SerfsTer?)
| gnomAD v4 |
12 | g.5045080_5045085dup | CA912996252 | KCNA5 | c.933_938dup (p.Ala313_Pro314insValAla)
| gnomAD v4 |
12 | g.5045080G>A | CA478095322 | KCNA5 | c.933G>A (p.Thr311=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045080G>C | CA6399762 | KCNA5 | c.933G>C (p.Thr311=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045080G= | CA2013431057 | KCNA5 | c.933G= (p.Thr311=)
| |
12 | g.5045080G>T | CA478095321 | KCNA5 | c.933G>T (p.Thr311=)
| gnomAD v4 |
12 | g.5045081dup | CA2841912340 | KCNA5 | c.934dup (p.Val312GlyfsTer?)
| |
12 | g.5045081G>A | CA383465439 | KCNA5 | c.934G>A (p.Val312Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045081G>C | CA383465440 | KCNA5 | c.934G>C (p.Val312Leu)
| gnomAD v4 |
12 | g.5045081G= | CA2013431058 | KCNA5 | c.934G= (p.Val312=)
| |
12 | g.5045081G>T | CA383465441 | KCNA5 | c.934G>T (p.Val312Leu)
| |
12 | g.5045082T>A | CA383465442 | KCNA5 | c.935T>A (p.Val312Glu)
| |
12 | g.5045082T>C | CA383465443 | KCNA5 | c.935T>C (p.Val312Ala)
| |
12 | g.5045082T>G | CA383465444 | KCNA5 | c.935T>G (p.Val312Gly)
| |
12 | g.5045083G>A | CA478095327 | KCNA5 | c.936G>A (p.Val312=)
| gnomAD v4 |
12 | g.5045083G>C | CA478095325 | KCNA5 | c.936G>C (p.Val312=)
| |
12 | g.5045083G= | CA2013431059 | KCNA5 | c.936G= (p.Val312=)
| |
12 | g.5045083G>T | CA478095324 | KCNA5 | c.936G>T (p.Val312=)
| |
12 | g.5045084_5045089dup | CA2617209909 | KCNA5 | c.937_942dup (p.Pro314_Leu315insAlaPro)
| dbSNP gnomAD v4 |
12 | g.5045084G>A | CA383465446 | KCNA5 | c.937G>A (p.Ala313Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045084G>C | CA231868219 | KCNA5 | c.937G>C (p.Ala313Pro)
| dbSNP gnomAD v4 |
12 | g.5045084G= | CA2013431060 | KCNA5 | c.937G= (p.Ala313=)
| |
12 | g.5045084G>T | CA383465445 | KCNA5 | c.937G>T (p.Ala313Ser)
| gnomAD v4 |
12 | g.5045084_5045087dup | CA1139662475 | KCNA5 | c.937_940dup (p.Pro314ArgfsTer?)
| ClinVar dbSNP |
12 | g.5045085C>A | CA383465447 | KCNA5 | c.938C>A (p.Ala313Glu)
| |
12 | g.5045085C>G | CA383465448 | KCNA5 | c.938C>G (p.Ala313Gly)
| |
12 | g.5045085C>T | CA383465449 | KCNA5 | c.938C>T (p.Ala313Val)
| gnomAD v4 |
12 | g.5045086A>C | CA478095328 | KCNA5 | c.939A>C (p.Ala313=)
| |
12 | g.5045086A>G | CA478095330 | KCNA5 | c.939A>G (p.Ala313=)
| |
12 | g.5045086A>T | CA478095329 | KCNA5 | c.939A>T (p.Ala313=)
| |
12 | g.5045087C>A | CA383465450 | KCNA5 | c.940C>A (p.Pro314Thr)
| |
12 | g.5045087C>G | CA383465451 | KCNA5 | c.940C>G (p.Pro314Ala)
| |
12 | g.5045087C>T | CA383465452 | KCNA5 | c.940C>T (p.Pro314Ser)
| gnomAD v4 |
12 | g.5045088C>A | CA383465453 | KCNA5 | c.941C>A (p.Pro314Gln)
| |
12 | g.5045088C= | CA2013431061 | KCNA5 | c.941C= (p.Pro314=)
| |
12 | g.5045088C>G | CA383465454 | KCNA5 | c.941C>G (p.Pro314Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045088C>T | CA231868221 | KCNA5 | c.941C>T (p.Pro314Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045089G>A | CA6399764 | KCNA5 | c.942G>A (p.Pro314=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045089G>C | CA478095333 | KCNA5 | c.942G>C (p.Pro314=)
| gnomAD v4 |
12 | g.5045089G= | CA2013431062 | KCNA5 | c.942G= (p.Pro314=)
| |
12 | g.5045089G>T | CA6399763 | KCNA5 | c.942G>T (p.Pro314=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045090C>A | CA383465456 | KCNA5 | c.943C>A (p.Leu315Ile)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045090C= | CA2013431063 | KCNA5 | c.943C= (p.Leu315=)
| |
12 | g.5045090C>G | CA383465457 | KCNA5 | c.943C>G (p.Leu315Val)
| |
12 | g.5045090C>T | CA383465455 | KCNA5 | c.943C>T (p.Leu315Phe)
| |
12 | g.5045091T>A | CA383465458 | KCNA5 | c.944T>A (p.Leu315His)
| |
12 | g.5045091T>C | CA6399765 | KCNA5 | c.944T>C (p.Leu315Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045091T>G | CA383465459 | KCNA5 | c.944T>G (p.Leu315Arg)
| |
12 | g.5045091T= | CA2013431064 | KCNA5 | c.944T= (p.Leu315=)
| |
12 | g.5045092C>A | CA6399766 | KCNA5 | c.945C>A (p.Leu315=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045092C= | CA2013431065 | KCNA5 | c.945C= (p.Leu315=)
| |
12 | g.5045092C>G | CA478095335 | KCNA5 | c.945C>G (p.Leu315=)
| dbSNP gnomAD v4 |
12 | g.5045092C>T | CA478095336 | KCNA5 | c.945C>T (p.Leu315=)
| |
12 | g.5045093C>A | CA383465460 | KCNA5 | c.946C>A (p.Leu316Met)
| |
12 | g.5045093C>G | CA383465461 | KCNA5 | c.946C>G (p.Leu316Val)
| |
12 | g.5045093C>T | CA478095337 | KCNA5 | c.946C>T (p.Leu316=)
| gnomAD v4 |
12 | g.5045093_5045094del | CA2830782507 | KCNA5 | c.946_947del (p.Leu316AlafsTer?)
| |
12 | g.5045094T>A | CA383465462 | KCNA5 | c.947T>A (p.Leu316Gln)
| |
12 | g.5045094T>C | CA383465463 | KCNA5 | c.947T>C (p.Leu316Pro)
| |
12 | g.5045094T>G | CA383465464 | KCNA5 | c.947T>G (p.Leu316Arg)
| |
12 | g.5045095G>A | CA478095338 | KCNA5 | c.948G>A (p.Leu316=)
| gnomAD v4 |
12 | g.5045095G>C | CA478095339 | KCNA5 | c.948G>C (p.Leu316=)
| gnomAD v4 |
12 | g.5045095G>T | CA478095340 | KCNA5 | c.948G>T (p.Leu316=)
| |
12 | g.5045096C>A | CA383465465 | KCNA5 | c.949C>A (p.Pro317Thr)
| |
12 | g.5045096C= | CA2013431066 | KCNA5 | c.949C= (p.Pro317=)
| |
12 | g.5045096C>G | CA383465466 | KCNA5 | c.949C>G (p.Pro317Ala)
| |
12 | g.5045096C>T | CA231868230 | KCNA5 | c.949C>T (p.Pro317Ser)
| dbSNP |
12 | g.5045097C>A | CA383465468 | KCNA5 | c.950C>A (p.Pro317His)
| |
12 | g.5045097C>G | CA383465469 | KCNA5 | c.950C>G (p.Pro317Arg)
| |
12 | g.5045097C>T | CA383465467 | KCNA5 | c.950C>T (p.Pro317Leu)
| gnomAD v4 |
12 | g.5045098C>A | CA478095344 | KCNA5 | c.951C>A (p.Pro317=)
| |
12 | g.5045098C>G | CA478095345 | KCNA5 | c.951C>G (p.Pro317=)
| |
12 | g.5045098C>T | CA478095346 | KCNA5 | c.951C>T (p.Pro317=)
| |
12 | g.5045099A>C | CA478095350 | KCNA5 | c.952A>C (p.Arg318=)
| |
12 | g.5045099A>G | CA383465470 | KCNA5 | c.952A>G (p.Arg318Gly)
| |
12 | g.5045099A>T | CA383465471 | KCNA5 | c.952A>T (p.Arg318Trp)
| |
12 | g.5045100G>A | CA383465472 | KCNA5 | c.953G>A (p.Arg318Lys)
| gnomAD v4 |
12 | g.5045100G>C | CA383465473 | KCNA5 | c.953G>C (p.Arg318Thr)
| |
12 | g.5045100G>T | CA383465474 | KCNA5 | c.953G>T (p.Arg318Met)
| |
12 | g.5045101G>A | CA478095351 | KCNA5 | c.954G>A (p.Arg318=)
| COSMIC |
12 | g.5045101G>C | CA383465476 | KCNA5 | c.954G>C (p.Arg318Ser)
| |
12 | g.5045101G>T | CA383465475 | KCNA5 | c.954G>T (p.Arg318Ser)
| |
12 | g.5045102A= | CA2013431067 | KCNA5 | c.955A= (p.Thr319=)
| |
12 | g.5045102A>C | CA383465477 | KCNA5 | c.955A>C (p.Thr319Pro)
| |
12 | g.5045102A>G | CA383465478 | KCNA5 | c.955A>G (p.Thr319Ala)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045102A>T | CA383465479 | KCNA5 | c.955A>T (p.Thr319Ser)
| |
12 | g.5045103C>A | CA383465480 | KCNA5 | c.956C>A (p.Thr319Asn)
| |
12 | g.5045103C>G | CA383465481 | KCNA5 | c.956C>G (p.Thr319Ser)
| |
12 | g.5045103C>T | CA383465482 | KCNA5 | c.956C>T (p.Thr319Ile)
| |
12 | g.5045104C>A | CA478095472 | KCNA5 | c.957C>A (p.Thr319=)
| gnomAD v4 |
12 | g.5045104C= | CA2013431068 | KCNA5 | c.957C= (p.Thr319=)
| |
12 | g.5045104C>G | CA478095475 | KCNA5 | c.957C>G (p.Thr319=)
| |
12 | g.5045104C>T | CA6399767 | KCNA5 | c.957C>T (p.Thr319=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045105C>A | CA383465483 | KCNA5 | c.958C>A (p.Leu320Met)
| |
12 | g.5045105C>G | CA383465484 | KCNA5 | c.958C>G (p.Leu320Val)
| |
12 | g.5045105C>T | CA478095477 | KCNA5 | c.958C>T (p.Leu320=)
| |
12 | g.5045106T>A | CA383465485 | KCNA5 | c.959T>A (p.Leu320Gln)
| |
12 | g.5045106T>C | CA231868240 | KCNA5 | c.959T>C (p.Leu320Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045106T>G | CA383465486 | KCNA5 | c.959T>G (p.Leu320Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045106T= | CA2013431069 | KCNA5 | c.959T= (p.Leu320=)
| |
12 | g.5045107G>A | CA6399768 | KCNA5 | c.960G>A (p.Leu320=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045107G>C | CA478095483 | KCNA5 | c.960G>C (p.Leu320=)
| |
12 | g.5045107G= | CA2013431070 | KCNA5 | c.960G= (p.Leu320=)
| |
12 | g.5045107G>T | CA478095484 | KCNA5 | c.960G>T (p.Leu320=)
| |
12 | g.5045108G>A | CA6399769 | KCNA5 | c.961G>A (p.Ala321Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045108G>C | CA383465487 | KCNA5 | c.961G>C (p.Ala321Pro)
| |
12 | g.5045108G= | CA2013431071 | KCNA5 | c.961G= (p.Ala321=)
| |
12 | g.5045108G>T | CA383465488 | KCNA5 | c.961G>T (p.Ala321Ser)
| |
12 | g.5045109C>A | CA383465489 | KCNA5 | c.962C>A (p.Ala321Asp)
| |
12 | g.5045109C= | CA2013431072 | KCNA5 | c.962C= (p.Ala321=)
| |
12 | g.5045109C>G | CA383465490 | KCNA5 | c.962C>G (p.Ala321Gly)
| |
12 | g.5045109C>T | CA6399770 | KCNA5 | c.962C>T (p.Ala321Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045110C>A | CA6399771 | KCNA5 | c.963C>A (p.Ala321=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045110C= | CA2013431073 | KCNA5 | c.963C= (p.Ala321=)
| |
12 | g.5045110C>G | CA478095487 | KCNA5 | c.963C>G (p.Ala321=)
| dbSNP gnomAD v4 |
12 | g.5045110C>T | CA478095486 | KCNA5 | c.963C>T (p.Ala321=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045111G>A | CA6399773 | KCNA5 | c.964G>A (p.Asp322Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045111G>C | CA6399772 | KCNA5 | c.964G>C (p.Asp322His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045111G= | CA2013431074 | KCNA5 | c.964G= (p.Asp322=)
| |
12 | g.5045111G>T | CA6399774 | KCNA5 | c.964G>T (p.Asp322Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045112A= | CA2013431075 | KCNA5 | c.965A= (p.Asp322=)
| |
12 | g.5045112A>C | CA383465491 | KCNA5 | c.965A>C (p.Asp322Ala)
| |
12 | g.5045112A>G | CA383465492 | KCNA5 | c.965A>G (p.Asp322Gly)
| gnomAD v4 |
12 | g.5045112A>T | CA231868287 | KCNA5 | c.965A>T (p.Asp322Val)
| dbSNP |
12 | g.5045112_5045113delinsAC | CA2013431076 | KCNA5 | c.965_966delinsAC (p.Asp322=)
| |
12 | g.5045113C>A | CA383465493 | KCNA5 | c.966C>A (p.Asp322Glu)
| |
12 | g.5045113C= | CA2013431077 | KCNA5 | c.966C= (p.Asp322=)
| |
12 | g.5045113C>G | CA236721 | KCNA5 | c.966C>G (p.Asp322Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045113C>T | CA478095491 | KCNA5 | c.966C>T (p.Asp322=)
| |
12 | g.5045116dup | CA2741226806 | KCNA5 | c.969dup (p.Phe324LeufsTer?)
| |
12 | g.5045116del | CA2013431078 | KCNA5 | c.969del (p.Phe324SerfsTer?)
| dbSNP |
12 | g.5045114C>A | CA6399776 | KCNA5 | c.967C>A (p.Pro323Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045114C= | CA2013431079 | KCNA5 | c.967C= (p.Pro323=)
| |
12 | g.5045114C>G | CA383465494 | KCNA5 | c.967C>G (p.Pro323Ala)
| gnomAD v4 |
12 | g.5045114C>T | CA6399775 | KCNA5 | c.967C>T (p.Pro323Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045115C>A | CA383465495 | KCNA5 | c.968C>A (p.Pro323His)
| dbSNP COSMIC |
12 | g.5045115C= | CA2013431080 | KCNA5 | c.968C= (p.Pro323=)
| |
12 | g.5045115C>G | CA383465496 | KCNA5 | c.968C>G (p.Pro323Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045115C>T | CA383465497 | KCNA5 | c.968C>T (p.Pro323Leu)
| dbSNP gnomAD v4 |
12 | g.5045116C>A | CA478095497 | KCNA5 | c.969C>A (p.Pro323=)
| |
12 | g.5045116C= | CA2013431081 | KCNA5 | c.969C= (p.Pro323=)
| |
12 | g.5045116C>G | CA478095498 | KCNA5 | c.969C>G (p.Pro323=)
| |
12 | g.5045116C>T | CA478095496 | KCNA5 | c.969C>T (p.Pro323=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045117T>A | CA383465498 | KCNA5 | c.970T>A (p.Phe324Ile)
| |
12 | g.5045117T>C | CA383465499 | KCNA5 | c.970T>C (p.Phe324Leu)
| |
12 | g.5045117T>G | CA383465500 | KCNA5 | c.970T>G (p.Phe324Val)
| |
12 | g.5045118T>A | CA383465501 | KCNA5 | c.971T>A (p.Phe324Tyr)
| |
12 | g.5045118T>C | CA383465502 | KCNA5 | c.971T>C (p.Phe324Ser)
| |
12 | g.5045118T>G | CA383465503 | KCNA5 | c.971T>G (p.Phe324Cys)
| |
12 | g.5045119C>A | CA383465504 | KCNA5 | c.972C>A (p.Phe324Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045119C= | CA2013431082 | KCNA5 | c.972C= (p.Phe324=)
| |
12 | g.5045119C>G | CA383465505 | KCNA5 | c.972C>G (p.Phe324Leu)
| |
12 | g.5045119C>T | CA478095501 | KCNA5 | c.972C>T (p.Phe324=)
| |
12 | g.5045120T>A | CA383465506 | KCNA5 | c.973T>A (p.Phe325Ile)
| |
12 | g.5045120T>C | CA383465507 | KCNA5 | c.973T>C (p.Phe325Leu)
| |
12 | g.5045120T>G | CA383465508 | KCNA5 | c.973T>G (p.Phe325Val)
| gnomAD v4 |
12 | g.5045121T>A | CA383465509 | KCNA5 | c.974T>A (p.Phe325Tyr)
| |
12 | g.5045121T>C | CA383465510 | KCNA5 | c.974T>C (p.Phe325Ser)
| |
12 | g.5045121T>G | CA383465511 | KCNA5 | c.974T>G (p.Phe325Cys)
| |
12 | g.5045122C>A | CA383465512 | KCNA5 | c.975C>A (p.Phe325Leu)
| |
12 | g.5045122C>G | CA383465513 | KCNA5 | c.975C>G (p.Phe325Leu)
| |
12 | g.5045122C>T | CA478095504 | KCNA5 | c.975C>T (p.Phe325=)
| |
12 | g.5045122_5045125dup | CA2617209910 | KCNA5 | c.975_978dup (p.Val327HisfsTer?)
| gnomAD v4 |
12 | g.5045123A>C | CA383465514 | KCNA5 | c.976A>C (p.Ile326Leu)
| |
12 | g.5045123A>G | CA383465516 | KCNA5 | c.976A>G (p.Ile326Val)
| gnomAD v4 |
12 | g.5045123A>T | CA383465515 | KCNA5 | c.976A>T (p.Ile326Phe)
| |
12 | g.5045124T>A | CA383465517 | KCNA5 | c.977T>A (p.Ile326Asn)
| |
12 | g.5045124T>C | CA383465518 | KCNA5 | c.977T>C (p.Ile326Thr)
| gnomAD v4 |
12 | g.5045124T>G | CA6399777 | KCNA5 | c.977T>G (p.Ile326Ser)
| dbSNP ExAC gnomAD v2 |
12 | g.5045124T= | CA2013431083 | KCNA5 | c.977T= (p.Ile326=)
| |
12 | g.5045125C>A | CA478095508 | KCNA5 | c.978C>A (p.Ile326=)
| gnomAD v4 |
12 | g.5045125C= | CA2013431084 | KCNA5 | c.978C= (p.Ile326=)
| |
12 | g.5045125C>G | CA383465519 | KCNA5 | c.978C>G (p.Ile326Met)
| |
12 | g.5045125C>T | CA478095510 | KCNA5 | c.978C>T (p.Ile326=)
| dbSNP gnomAD v4 COSMIC |
12 | g.5045126G>A | CA383465520 | KCNA5 | c.979G>A (p.Val327Met)
| gnomAD v4 COSMIC |
12 | g.5045126G>C | CA383465522 | KCNA5 | c.979G>C (p.Val327Leu)
| |
12 | g.5045126G>T | CA383465521 | KCNA5 | c.979G>T (p.Val327Leu)
| |
12 | g.5045127_5045129del | CA2617209911 | KCNA5 | c.980_982del (p.Val327del)
| gnomAD v4 |
12 | g.5045127T>A | CA383465523 | KCNA5 | c.980T>A (p.Val327Glu)
| |
12 | g.5045127T>C | CA383465524 | KCNA5 | c.980T>C (p.Val327Ala)
| |
12 | g.5045127T>G | CA383465525 | KCNA5 | c.980T>G (p.Val327Gly)
| |
12 | g.5045128G>A | CA478095512 | KCNA5 | c.981G>A (p.Val327=)
| |
12 | g.5045128G>C | CA478095513 | KCNA5 | c.981G>C (p.Val327=)
| |
12 | g.5045128G>T | CA478095511 | KCNA5 | c.981G>T (p.Val327=)
| |
12 | g.5045129G>A | CA383465526 | KCNA5 | c.982G>A (p.Glu328Lys)
| |
12 | g.5045129G>C | CA383465527 | KCNA5 | c.982G>C (p.Glu328Gln)
| |
12 | g.5045129G>T | CA383465528 | KCNA5 | c.982G>T (p.Glu328Ter)
| |
12 | g.5045130A= | CA2013431085 | KCNA5 | c.983A= (p.Glu328=)
| |
12 | g.5045130A>C | CA383465529 | KCNA5 | c.983A>C (p.Glu328Ala)
| |
12 | g.5045130A>G | CA383465530 | KCNA5 | c.983A>G (p.Glu328Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045130A>T | CA383465531 | KCNA5 | c.983A>T (p.Glu328Val)
| |
12 | g.5045131G>A | CA478095515 | KCNA5 | c.984G>A (p.Glu328=)
| |
12 | g.5045131G>C | CA383465532 | KCNA5 | c.984G>C (p.Glu328Asp)
| |
12 | g.5045131G>T | CA383465533 | KCNA5 | c.984G>T (p.Glu328Asp)
| |
12 | g.5045132A= | CA2013431086 | KCNA5 | c.985A= (p.Thr329=)
| |
12 | g.5045132A>C | CA383465534 | KCNA5 | c.985A>C (p.Thr329Pro)
| |
12 | g.5045132A>G | CA383465536 | KCNA5 | c.985A>G (p.Thr329Ala)
| ClinVar dbSNP |
12 | g.5045132A>T | CA383465535 | KCNA5 | c.985A>T (p.Thr329Ser)
| dbSNP |
12 | g.5045133C>A | CA383465537 | KCNA5 | c.986C>A (p.Thr329Asn)
| |
12 | g.5045133C>G | CA383465539 | KCNA5 | c.986C>G (p.Thr329Ser)
| |
12 | g.5045133C>T | CA383465538 | KCNA5 | c.986C>T (p.Thr329Ile)
| |
12 | g.5045134C>A | CA478095518 | KCNA5 | c.987C>A (p.Thr329=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045134C= | CA2013431087 | KCNA5 | c.987C= (p.Thr329=)
| |
12 | g.5045134C>G | CA478095520 | KCNA5 | c.987C>G (p.Thr329=)
| |
12 | g.5045134C>T | CA478095519 | KCNA5 | c.987C>T (p.Thr329=)
| dbSNP gnomAD v4 |
12 | g.5045135A>C | CA383465540 | KCNA5 | c.988A>C (p.Thr330Pro)
| |
12 | g.5045135A>G | CA383465541 | KCNA5 | c.988A>G (p.Thr330Ala)
| |
12 | g.5045135A>T | CA383465542 | KCNA5 | c.988A>T (p.Thr330Ser)
| |
12 | g.5045136C>A | CA6399779 | KCNA5 | c.989C>A (p.Thr330Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045136C= | CA2013431088 | KCNA5 | c.989C= (p.Thr330=)
| |
12 | g.5045136C>G | CA383465543 | KCNA5 | c.989C>G (p.Thr330Arg)
| |
12 | g.5045136C>T | CA6399778 | KCNA5 | c.989C>T (p.Thr330Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045137del | CA2617209912 | KCNA5 | c.990del (p.Cys331AlafsTer27)
| gnomAD v4 |
12 | g.5045137G>A | CA478095524 | KCNA5 | c.990G>A (p.Thr330=)
| dbSNP gnomAD v2 |
12 | g.5045137G>C | CA478095526 | KCNA5 | c.990G>C (p.Thr330=)
| |
12 | g.5045137G= | CA2013431089 | KCNA5 | c.990G= (p.Thr330=)
| |
12 | g.5045137G>T | CA478095525 | KCNA5 | c.990G>T (p.Thr330=)
| gnomAD v4 |