| 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.150958330C>A | CA458646538 | KCNH2 | n.1478G>T c.645G>T (p.Val215=) c.297G>T (p.Val99=) n.868G>T c.345G>T (p.Val115=) c.495G>T (p.Val165=) c.468G>T (p.Val156=) | gnomAD v4 |
| 7 | g.150958330C>G | CA458646541 | KCNH2 | n.1478G>C c.645G>C (p.Val215=) c.297G>C (p.Val99=) n.868G>C c.345G>C (p.Val115=) c.495G>C (p.Val165=) c.468G>C (p.Val156=) | |
| 7 | g.150958330C>T | CA458646540 | KCNH2 | n.1478G>A c.645G>A (p.Val215=) c.297G>A (p.Val99=) n.868G>A c.345G>A (p.Val115=) c.495G>A (p.Val165=) c.468G>A (p.Val156=) | gnomAD v4 |
| 7 | g.150958331A= | CA1752418439 | KCNH2 | n.1477T= c.644T= (p.Val215=) c.296T= (p.Val99=) n.867T= c.344T= (p.Val115=) c.494T= (p.Val165=) c.467T= (p.Val156=) | |
| 7 | g.150958331A>C | CA008637 | KCNH2 | n.1477T>G c.644T>G (p.Val215Gly) c.296T>G (p.Val99Gly) n.867T>G c.344T>G (p.Val115Gly) c.494T>G (p.Val165Gly) c.467T>G (p.Val156Gly) | ClinVar dbSNP |
| 7 | g.150958331A>G | CA369862993 | KCNH2 | n.1477T>C c.644T>C (p.Val215Ala) c.296T>C (p.Val99Ala) n.867T>C c.344T>C (p.Val115Ala) c.494T>C (p.Val165Ala) c.467T>C (p.Val156Ala) | gnomAD v4 |
| 7 | g.150958331A>T | CA369862990 | KCNH2 | n.1477T>A c.644T>A (p.Val215Glu) c.296T>A (p.Val99Glu) n.867T>A c.344T>A (p.Val115Glu) c.494T>A (p.Val165Glu) c.467T>A (p.Val156Glu) | gnomAD v4 |
| 7 | g.150958332C>A | CA369862994 | KCNH2 | n.1476G>T c.643G>T (p.Val215Leu) c.295G>T (p.Val99Leu) n.866G>T c.343G>T (p.Val115Leu) c.493G>T (p.Val165Leu) c.466G>T (p.Val156Leu) | gnomAD v4 |
| 7 | g.150958332C>G | CA369862996 | KCNH2 | n.1476G>C c.643G>C (p.Val215Leu) c.295G>C (p.Val99Leu) n.866G>C c.343G>C (p.Val115Leu) c.493G>C (p.Val165Leu) c.466G>C (p.Val156Leu) | |
| 7 | g.150958332C>T | CA369862997 | KCNH2 | n.1476G>A c.643G>A (p.Val215Met) c.295G>A (p.Val99Met) n.866G>A c.343G>A (p.Val115Met) c.493G>A (p.Val165Met) c.466G>A (p.Val156Met) | gnomAD v4 |
| 7 | g.150958333T>A | CA369862999 | KCNH2 | n.1475A>T c.642A>T (p.Glu214Asp) c.294A>T (p.Glu98Asp) n.865A>T c.342A>T (p.Glu114Asp) c.492A>T (p.Glu164Asp) c.465A>T (p.Glu155Asp) | gnomAD v4 |
| 7 | g.150958333T>C | CA458646547 | KCNH2 | n.1475A>G c.642A>G (p.Glu214=) c.294A>G (p.Glu98=) n.865A>G c.342A>G (p.Glu114=) c.492A>G (p.Glu164=) c.465A>G (p.Glu155=) | dbSNP gnomAD v4 |
| 7 | g.150958333T>G | CA369863000 | KCNH2 | n.1475A>C c.642A>C (p.Glu214Asp) c.294A>C (p.Glu98Asp) n.865A>C c.342A>C (p.Glu114Asp) c.492A>C (p.Glu164Asp) c.465A>C (p.Glu155Asp) | |
| 7 | g.150958333T= | CA1752418443 | KCNH2 | n.1475A= c.642A= (p.Glu214=) c.294A= (p.Glu98=) n.865A= c.342A= (p.Glu114=) c.492A= (p.Glu164=) c.465A= (p.Glu155=) | |
| 7 | g.150958334T>A | CA369863002 | KCNH2 | n.1474A>T c.641A>T (p.Glu214Val) c.293A>T (p.Glu98Val) n.864A>T c.341A>T (p.Glu114Val) c.491A>T (p.Glu164Val) c.464A>T (p.Glu155Val) | |
| 7 | g.150958334T>C | CA369863004 | KCNH2 | n.1474A>G c.641A>G (p.Glu214Gly) c.293A>G (p.Glu98Gly) n.864A>G c.341A>G (p.Glu114Gly) c.491A>G (p.Glu164Gly) c.464A>G (p.Glu155Gly) | gnomAD v4 |
| 7 | g.150958334T>G | CA369863005 | KCNH2 | n.1474A>C c.641A>C (p.Glu214Ala) c.293A>C (p.Glu98Ala) n.864A>C c.341A>C (p.Glu114Ala) c.491A>C (p.Glu164Ala) c.464A>C (p.Glu155Ala) | |
| 7 | g.150958335C>A | CA369863008 | KCNH2 | n.1473G>T c.640G>T (p.Glu214Ter) c.292G>T (p.Glu98Ter) n.863G>T c.340G>T (p.Glu114Ter) c.490G>T (p.Glu164Ter) c.463G>T (p.Glu155Ter) | ClinVar gnomAD v4 |
| 7 | g.150958335C= | CA1752418447 | KCNH2 | n.1473G= c.640G= (p.Glu214=) c.292G= (p.Glu98=) n.863G= c.340G= (p.Glu114=) c.490G= (p.Glu164=) c.463G= (p.Glu155=) | |
| 7 | g.150958335C>G | CA369863009 | KCNH2 | n.1473G>C c.640G>C (p.Glu214Gln) c.292G>C (p.Glu98Gln) n.863G>C c.340G>C (p.Glu114Gln) c.490G>C (p.Glu164Gln) c.463G>C (p.Glu155Gln) | |
| 7 | g.150958335C>T | CA040168 | KCNH2 | n.1473G>A c.640G>A (p.Glu214Lys) c.292G>A (p.Glu98Lys) n.863G>A c.340G>A (p.Glu114Lys) c.490G>A (p.Glu164Lys) c.463G>A (p.Glu155Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958336G>A | CA458646554 | KCNH2 | n.1472C>T c.639C>T (p.Asp213=) c.291C>T (p.Asp97=) n.862C>T c.339C>T (p.Asp113=) c.489C>T (p.Asp163=) c.462C>T (p.Asp154=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150958336G>C | CA369863012 | KCNH2 | n.1472C>G c.639C>G (p.Asp213Glu) c.291C>G (p.Asp97Glu) n.862C>G c.339C>G (p.Asp113Glu) c.489C>G (p.Asp163Glu) c.462C>G (p.Asp154Glu) | |
| 7 | g.150958336G= | CA1752418450 | KCNH2 | n.1472C= c.639C= (p.Asp213=) c.291C= (p.Asp97=) n.862C= c.339C= (p.Asp113=) c.489C= (p.Asp163=) c.462C= (p.Asp154=) | |
| 7 | g.150958336G>T | CA369863014 | KCNH2 | n.1472C>A c.639C>A (p.Asp213Glu) c.291C>A (p.Asp97Glu) n.862C>A c.339C>A (p.Asp113Glu) c.489C>A (p.Asp163Glu) c.462C>A (p.Asp154Glu) | gnomAD v4 |
| 7 | g.150958337T>A | CA369863019 | KCNH2 | n.1471A>T c.638A>T (p.Asp213Val) c.290A>T (p.Asp97Val) n.861A>T c.338A>T (p.Asp113Val) c.488A>T (p.Asp163Val) c.461A>T (p.Asp154Val) | gnomAD v4 |
| 7 | g.150958337T>C | CA040150 | KCNH2 | n.1471A>G c.638A>G (p.Asp213Gly) c.290A>G (p.Asp97Gly) n.861A>G c.338A>G (p.Asp113Gly) c.488A>G (p.Asp163Gly) c.461A>G (p.Asp154Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150958337T>G | CA369863016 | KCNH2 | n.1471A>C c.638A>C (p.Asp213Ala) c.290A>C (p.Asp97Ala) n.861A>C c.338A>C (p.Asp113Ala) c.488A>C (p.Asp163Ala) c.461A>C (p.Asp154Ala) | |
| 7 | g.150958337T= | CA1752418456 | KCNH2 | n.1471A= c.638A= (p.Asp213=) c.290A= (p.Asp97=) n.861A= c.338A= (p.Asp113=) c.488A= (p.Asp163=) c.461A= (p.Asp154=) | |
| 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 |