Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150958298_150958372del | CA2685608128 | KCNH2 | n.1444_1518del c.611_685del (p.Ala204_Ala228del) c.263_337del (p.Ala88_Ala112del) n.834_908del c.311_385del (p.Ala104_Ala128del) c.461_535del (p.Ala154_Ala178del) c.434_508del (p.Ala145_Ala169del) | gnomAD v4 |
7 | g.150958338C>A | CA369863020 | KCNH2 | n.1470G>T c.637G>T (p.Asp213Tyr) c.289G>T (p.Asp97Tyr) n.860G>T c.337G>T (p.Asp113Tyr) c.487G>T (p.Asp163Tyr) c.460G>T (p.Asp154Tyr) | gnomAD v4 |
7 | g.150958338C= | CA1752418462 | KCNH2 | n.1470G= c.637G= (p.Asp213=) c.289G= (p.Asp97=) n.860G= c.337G= (p.Asp113=) c.487G= (p.Asp163=) c.460G= (p.Asp154=) | |
7 | g.150958338C>G | CA369863022 | KCNH2 | n.1470G>C c.637G>C (p.Asp213His) c.289G>C (p.Asp97His) n.860G>C c.337G>C (p.Asp113His) c.487G>C (p.Asp163His) c.460G>C (p.Asp154His) | gnomAD v4 |
7 | g.150958338C>T | CA369863023 | KCNH2 | n.1470G>A c.637G>A (p.Asp213Asn) c.289G>A (p.Asp97Asn) n.860G>A c.337G>A (p.Asp113Asn) c.487G>A (p.Asp163Asn) c.460G>A (p.Asp154Asn) | dbSNP gnomAD v4 |
7 | g.150958339del | CA2685608358 | KCNH2 | n.1470del c.637del (p.Asp213ThrfsTer3) c.289del (p.Asp97ThrfsTer3) n.860del c.337del (p.Asp113ThrfsTer3) c.487del (p.Asp163ThrfsTer3) c.460del (p.Asp154ThrfsTer3) | gnomAD v4 |
7 | g.150958339C>A | CA458646564 | KCNH2 | n.1469G>T c.636G>T (p.Leu212=) c.288G>T (p.Leu96=) n.859G>T c.336G>T (p.Leu112=) c.486G>T (p.Leu162=) c.459G>T (p.Leu153=) | gnomAD v4 |
7 | g.150958339C= | CA1752418464 | KCNH2 | n.1469G= c.636G= (p.Leu212=) c.288G= (p.Leu96=) n.859G= c.336G= (p.Leu112=) c.486G= (p.Leu162=) c.459G= (p.Leu153=) | |
7 | g.150958339C>G | CA040142 | KCNH2 | n.1469G>C c.636G>C (p.Leu212=) c.288G>C (p.Leu96=) n.859G>C c.336G>C (p.Leu112=) c.486G>C (p.Leu162=) c.459G>C (p.Leu153=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958339C>T | CA458646561 | KCNH2 | n.1469G>A c.636G>A (p.Leu212=) c.288G>A (p.Leu96=) n.859G>A c.336G>A (p.Leu112=) c.486G>A (p.Leu162=) c.459G>A (p.Leu153=) | gnomAD v4 |
7 | g.150958340del | CA071918 | KCNH2 | n.1468del c.635del (p.Leu212ArgfsTer4) c.287del (p.Leu96ArgfsTer4) n.858del c.335del (p.Leu112ArgfsTer4) c.485del (p.Leu162ArgfsTer4) c.458del (p.Leu153ArgfsTer4) | |
7 | g.150958340A= | CA1752418471 | KCNH2 | n.1468T= c.635T= (p.Leu212=) c.287T= (p.Leu96=) n.858T= c.335T= (p.Leu112=) c.485T= (p.Leu162=) c.458T= (p.Leu153=) | |
7 | g.150958340A>C | CA369863026 | KCNH2 | n.1468T>G c.635T>G (p.Leu212Arg) c.287T>G (p.Leu96Arg) n.858T>G c.335T>G (p.Leu112Arg) c.485T>G (p.Leu162Arg) c.458T>G (p.Leu153Arg) | |
7 | g.150958340A>G | CA369863027 | KCNH2 | n.1468T>C c.635T>C (p.Leu212Pro) c.287T>C (p.Leu96Pro) n.858T>C c.335T>C (p.Leu112Pro) c.485T>C (p.Leu162Pro) c.458T>C (p.Leu153Pro) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.150958340A>T | CA369863028 | KCNH2 | n.1468T>A c.635T>A (p.Leu212Gln) c.287T>A (p.Leu96Gln) n.858T>A c.335T>A (p.Leu112Gln) c.485T>A (p.Leu162Gln) c.458T>A (p.Leu153Gln) | gnomAD v4 |
7 | g.150958341G>A | CA458646568 | KCNH2 | n.1467C>T c.634C>T (p.Leu212=) c.286C>T (p.Leu96=) n.857C>T c.334C>T (p.Leu112=) c.484C>T (p.Leu162=) c.457C>T (p.Leu153=) | dbSNP gnomAD v4 |
7 | g.150958341G>C | CA369863029 | KCNH2 | n.1467C>G c.634C>G (p.Leu212Val) c.286C>G (p.Leu96Val) n.857C>G c.334C>G (p.Leu112Val) c.484C>G (p.Leu162Val) c.457C>G (p.Leu153Val) | |
7 | g.150958341G= | CA1752418475 | KCNH2 | n.1467C= c.634C= (p.Leu212=) c.286C= (p.Leu96=) n.857C= c.334C= (p.Leu112=) c.484C= (p.Leu162=) c.457C= (p.Leu153=) | |
7 | g.150958341G>T | CA369863031 | KCNH2 | n.1467C>A c.634C>A (p.Leu212Met) c.286C>A (p.Leu96Met) n.857C>A c.334C>A (p.Leu112Met) c.484C>A (p.Leu162Met) c.457C>A (p.Leu153Met) | gnomAD v4 |
7 | g.150958343del | CA2685608374 | KCNH2 | n.1467del c.634del (p.Leu212TrpfsTer4) c.286del (p.Leu96TrpfsTer4) n.857del c.334del (p.Leu112TrpfsTer4) c.484del (p.Leu162TrpfsTer4) c.457del (p.Leu153TrpfsTer4) | gnomAD v4 |
7 | g.150958342G>A | CA040124 | KCNH2 | n.1466C>T c.633C>T (p.Ala211=) c.285C>T (p.Ala95=) n.856C>T c.333C>T (p.Ala111=) c.483C>T (p.Ala161=) c.456C>T (p.Ala152=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150958342G>C | CA458646572 | KCNH2 | n.1466C>G c.633C>G (p.Ala211=) c.285C>G (p.Ala95=) n.856C>G c.333C>G (p.Ala111=) c.483C>G (p.Ala161=) c.456C>G (p.Ala152=) | gnomAD v4 |
7 | g.150958342G= | CA1752418477 | KCNH2 | n.1466C= c.633C= (p.Ala211=) c.285C= (p.Ala95=) n.856C= c.333C= (p.Ala111=) c.483C= (p.Ala161=) c.456C= (p.Ala152=) | |
7 | g.150958342G>T | CA458646573 | KCNH2 | n.1466C>A c.633C>A (p.Ala211=) c.285C>A (p.Ala95=) n.856C>A c.333C>A (p.Ala111=) c.483C>A (p.Ala161=) c.456C>A (p.Ala152=) | gnomAD v4 |
7 | g.150958343G>A | CA369863034 | KCNH2 | n.1465C>T c.632C>T (p.Ala211Val) c.284C>T (p.Ala95Val) n.855C>T c.332C>T (p.Ala111Val) c.482C>T (p.Ala161Val) c.455C>T (p.Ala152Val) | ClinVar gnomAD v4 |
7 | g.150958343G>C | CA369863036 | KCNH2 | n.1465C>G c.632C>G (p.Ala211Gly) c.284C>G (p.Ala95Gly) n.855C>G c.332C>G (p.Ala111Gly) c.482C>G (p.Ala161Gly) c.455C>G (p.Ala152Gly) | gnomAD v4 |
7 | g.150958343G= | CA1752418480 | KCNH2 | n.1465C= c.632C= (p.Ala211=) c.284C= (p.Ala95=) n.855C= c.332C= (p.Ala111=) c.482C= (p.Ala161=) c.455C= (p.Ala152=) | |
7 | g.150958343G>T | CA169081387 | KCNH2 | n.1465C>A c.632C>A (p.Ala211Asp) c.284C>A (p.Ala95Asp) n.855C>A c.332C>A (p.Ala111Asp) c.482C>A (p.Ala161Asp) c.455C>A (p.Ala152Asp) | dbSNP gnomAD v4 |
7 | g.150958344C>A | CA169081388 | KCNH2 | n.1464G>T c.631G>T (p.Ala211Ser) c.283G>T (p.Ala95Ser) n.854G>T c.331G>T (p.Ala111Ser) c.481G>T (p.Ala161Ser) c.454G>T (p.Ala152Ser) | dbSNP gnomAD v4 |
7 | g.150958344C= | CA1752418482 | KCNH2 | n.1464G= c.631G= (p.Ala211=) c.283G= (p.Ala95=) n.854G= c.331G= (p.Ala111=) c.481G= (p.Ala161=) c.454G= (p.Ala152=) | |
7 | g.150958344C>G | CA369863040 | KCNH2 | n.1464G>C c.631G>C (p.Ala211Pro) c.283G>C (p.Ala95Pro) n.854G>C c.331G>C (p.Ala111Pro) c.481G>C (p.Ala161Pro) c.454G>C (p.Ala152Pro) | |
7 | g.150958344C>T | CA071854 | KCNH2 | n.1464G>A c.631G>A (p.Ala211Thr) c.283G>A (p.Ala95Thr) n.854G>A c.331G>A (p.Ala111Thr) c.481G>A (p.Ala161Thr) c.454G>A (p.Ala152Thr) | gnomAD v4 |
7 | g.150958345del | CA2685608398 | KCNH2 | n.1464del c.631del (p.Ala211ProfsTer5) c.283del (p.Ala95ProfsTer5) n.854del c.331del (p.Ala111ProfsTer5) c.481del (p.Ala161ProfsTer5) c.454del (p.Ala152ProfsTer5) | gnomAD v4 |
7 | g.150958345C>A | CA458646580 | KCNH2 | n.1463G>T c.630G>T (p.Leu210=) c.282G>T (p.Leu94=) n.853G>T c.330G>T (p.Leu110=) c.480G>T (p.Leu160=) c.453G>T (p.Leu151=) | dbSNP gnomAD v4 |
7 | g.150958345C= | CA1752418484 | KCNH2 | n.1463G= c.630G= (p.Leu210=) c.282G= (p.Leu94=) n.853G= c.330G= (p.Leu110=) c.480G= (p.Leu160=) c.453G= (p.Leu151=) | |
7 | g.150958345C>G | CA458646581 | KCNH2 | n.1463G>C c.630G>C (p.Leu210=) c.282G>C (p.Leu94=) n.853G>C c.330G>C (p.Leu110=) c.480G>C (p.Leu160=) c.453G>C (p.Leu151=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958345C>T | CA458646582 | KCNH2 | n.1463G>A c.630G>A (p.Leu210=) c.282G>A (p.Leu94=) n.853G>A c.330G>A (p.Leu110=) c.480G>A (p.Leu160=) c.453G>A (p.Leu151=) | gnomAD v4 |
7 | g.150958346A= | CA1752418488 | KCNH2 | n.1462T= c.629T= (p.Leu210=) c.281T= (p.Leu94=) n.852T= c.329T= (p.Leu110=) c.479T= (p.Leu160=) c.452T= (p.Leu151=) | |
7 | g.150958346A>C | CA369863044 | KCNH2 | n.1462T>G c.629T>G (p.Leu210Arg) c.281T>G (p.Leu94Arg) n.852T>G c.329T>G (p.Leu110Arg) c.479T>G (p.Leu160Arg) c.452T>G (p.Leu151Arg) | |
7 | g.150958346A>G | CA369863042 | KCNH2 | n.1462T>C c.629T>C (p.Leu210Pro) c.281T>C (p.Leu94Pro) n.852T>C c.329T>C (p.Leu110Pro) c.479T>C (p.Leu160Pro) c.452T>C (p.Leu151Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.150958346A>T | CA369863046 | KCNH2 | n.1462T>A c.629T>A (p.Leu210Gln) c.281T>A (p.Leu94Gln) n.852T>A c.329T>A (p.Leu110Gln) c.479T>A (p.Leu160Gln) c.452T>A (p.Leu151Gln) | ClinVar dbSNP gnomAD v4 |
7 | g.150958347G>A | CA458646586 | KCNH2 | n.1461C>T c.628C>T (p.Leu210=) c.280C>T (p.Leu94=) n.851C>T c.328C>T (p.Leu110=) c.478C>T (p.Leu160=) c.451C>T (p.Leu151=) | gnomAD v4 |
7 | g.150958347G>C | CA369863048 | KCNH2 | n.1461C>G c.628C>G (p.Leu210Val) c.280C>G (p.Leu94Val) n.851C>G c.328C>G (p.Leu110Val) c.478C>G (p.Leu160Val) c.451C>G (p.Leu151Val) | gnomAD v4 |
7 | g.150958347G>T | CA369863049 | KCNH2 | n.1461C>A c.628C>A (p.Leu210Met) c.280C>A (p.Leu94Met) n.851C>A c.328C>A (p.Leu110Met) c.478C>A (p.Leu160Met) c.451C>A (p.Leu151Met) | gnomAD v4 |
7 | g.150958348C>A | CA169081389 | KCNH2 | n.1460G>T c.627G>T (p.Ser209=) c.279G>T (p.Ser93=) n.850G>T c.327G>T (p.Ser109=) c.477G>T (p.Ser159=) c.450G>T (p.Ser150=) | ClinVar dbSNP gnomAD v4 |
7 | g.150958348C= | CA1752418492 | KCNH2 | n.1460G= c.627G= (p.Ser209=) c.279G= (p.Ser93=) n.850G= c.327G= (p.Ser109=) c.477G= (p.Ser159=) c.450G= (p.Ser150=) | |
7 | g.150958348C>G | CA458646590 | KCNH2 | n.1460G>C c.627G>C (p.Ser209=) c.279G>C (p.Ser93=) n.850G>C c.327G>C (p.Ser109=) c.477G>C (p.Ser159=) c.450G>C (p.Ser150=) | gnomAD v4 |
7 | g.150958348C>T | CA458646592 | KCNH2 | n.1460G>A c.627G>A (p.Ser209=) c.279G>A (p.Ser93=) n.850G>A c.327G>A (p.Ser109=) c.477G>A (p.Ser159=) c.450G>A (p.Ser150=) | gnomAD v4 |
7 | g.150958349G>A | CA071932 | KCNH2 | n.1459C>T c.626C>T (p.Ser209Leu) c.278C>T (p.Ser93Leu) n.849C>T c.326C>T (p.Ser109Leu) c.476C>T (p.Ser159Leu) c.449C>T (p.Ser150Leu) | dbSNP gnomAD v4 |
7 | g.150958349G>C | CA369863052 | KCNH2 | n.1459C>G c.626C>G (p.Ser209Trp) c.278C>G (p.Ser93Trp) n.849C>G c.326C>G (p.Ser109Trp) c.476C>G (p.Ser159Trp) c.449C>G (p.Ser150Trp) |