Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150945279_150945319delinsGGCCTCCTGAGCAGGGCCTCCAAGGGGAGCGGCCCAGCAGC | CA1752425409 | KCNH2 | n.4359_4399delinsGCTGCTGGGCCGCTCCCCTTGGAGGCCCTGCTCAGGAGGCC c.*46_*86delinsGCTGCTGGGCCGCTCCCCTTGGAGGCCCTGCTCAGGAGGCC (n.*46_*86delinsGCTGCTGGGCCGCTCCCCTTGGAGGCCCTGCTCAGGAGGCC) | |
7 | g.150945284_150945323del | CA918162837 | KCNH2 | n.4359_4398del c.*46_*85del (n.*46_*85del) | dbSNP |
7 | g.150945313del | CA2685600085 | KCNH2 | n.4367del c.*54del (n.*54del) | gnomAD v4 |
7 | g.150945312C>A | CA2685600088 | KCNH2 | n.4366G>T c.*53G>T (n.*53G>T) | gnomAD v4 |
7 | g.150945312C= | CA1752425437 | KCNH2 | n.4366G= c.*53G= (n.*53G=) | |
7 | g.150945312C>T | CA169070294 | KCNH2 | n.4366G>A c.*53G>A (n.*53G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150945313C>A | CA2685600089 | KCNH2 | n.4365G>T c.*52G>T (n.*52G>T) | gnomAD v4 |
7 | g.150945313C>T | CA2685600090 | KCNH2 | n.4365G>A c.*52G>A (n.*52G>A) | gnomAD v4 |
7 | g.150945315G>A | CA169070295 | KCNH2 | n.4363C>T c.*50C>T (n.*50C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945315G= | CA1752425439 | KCNH2 | n.4363C= c.*50C= (n.*50C=) | |
7 | g.150945315G>T | CA2685600091 | KCNH2 | n.4363C>A c.*50C>A (n.*50C>A) | gnomAD v4 |
7 | g.150945316C>A | CA2685600092 | KCNH2 | n.4362G>T c.*49G>T (n.*49G>T) | gnomAD v4 |
7 | g.150945316C= | CA1752425441 | KCNH2 | n.4362G= c.*49G= (n.*49G=) | |
7 | g.150945316C>G | CA835219255 | KCNH2 | n.4362G>C c.*49G>C (n.*49G>C) | dbSNP |
7 | g.150945316C>T | CA2685600093 | KCNH2 | n.4362G>A c.*49G>A (n.*49G>A) | gnomAD v4 |
7 | g.150945317A>T | CA2685600094 | KCNH2 | n.4361T>A c.*48T>A (n.*48T>A) | gnomAD v4 |
7 | g.150945318G>C | CA2685600095 | KCNH2 | n.4360C>G c.*47C>G (n.*47C>G) | gnomAD v4 |
7 | g.150945318G>T | CA2685600096 | KCNH2 | n.4360C>A c.*47C>A (n.*47C>A) | gnomAD v4 |
7 | g.150945319C>A | CA2685600097 | KCNH2 | n.4359G>T c.*46G>T (n.*46G>T) | gnomAD v4 |
7 | g.150945319C= | CA1752425444 | KCNH2 | n.4359G= c.*46G= (n.*46G=) | |
7 | g.150945319C>T | CA039610 | KCNH2 | n.4359G>A c.*46G>A (n.*46G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150945320G>A | CA039576 | KCNH2 | n.4358C>T c.*45C>T (n.*45C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150945320G= | CA1752425447 | KCNH2 | n.4358C= c.*45C= (n.*45C=) | |
7 | g.150945320G>T | CA2685600098 | KCNH2 | n.4358C>A c.*45C>A (n.*45C>A) | gnomAD v4 |
7 | g.150945321C>A | CA835219260 | KCNH2 | n.4357G>T c.*44G>T (n.*44G>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150945321C= | CA1752425450 | KCNH2 | n.4357G= c.*44G= (n.*44G=) | |
7 | g.150945322del | CA2685600099 | KCNH2 | n.4357del c.*44del (n.*44del) | gnomAD v4 |
7 | g.150945322C>A | CA2685600100 | KCNH2 | n.4356G>T c.*43G>T (n.*43G>T) | gnomAD v4 |
7 | g.150945322C= | CA1752425452 | KCNH2 | n.4356G= c.*43G= (n.*43G=) | |
7 | g.150945322C>T | CA578700762 | KCNH2 | n.4356G>A c.*43G>A (n.*43G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945323T>A | CA2685600101 | KCNH2 | n.4355A>T c.*42A>T (n.*42A>T) | gnomAD v4 |
7 | g.150945323T>C | CA2685600102 | KCNH2 | n.4355A>G c.*42A>G (n.*42A>G) | gnomAD v4 |
7 | g.150945324T>C | CA578700763 | KCNH2 | n.4354A>G c.*41A>G (n.*41A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945324T>G | CA2685600103 | KCNH2 | n.4354A>C c.*41A>C (n.*41A>C) | gnomAD v4 |
7 | g.150945324T= | CA1752425454 | KCNH2 | n.4354A= c.*41A= (n.*41A=) | |
7 | g.150945325G>A | CA2685600104 | KCNH2 | n.4353C>T c.*40C>T (n.*40C>T) | gnomAD v4 |
7 | g.150945325G>C | CA1752425459 | KCNH2 | n.4353C>G c.*40C>G (n.*40C>G) | dbSNP |
7 | g.150945325G= | CA1752425455 | KCNH2 | n.4353C= c.*40C= (n.*40C=) | |
7 | g.150945325G>T | CA2685600105 | KCNH2 | n.4353C>A c.*40C>A (n.*40C>A) | gnomAD v4 |
7 | g.150945328C>A | CA2685600106 | KCNH2 | n.4350G>T c.*37G>T (n.*37G>T) | gnomAD v4 |
7 | g.150945328C>G | CA2685600107 | KCNH2 | n.4350G>C c.*37G>C (n.*37G>C) | gnomAD v4 |
7 | g.150945328C>T | CA2685600108 | KCNH2 | n.4350G>A c.*37G>A (n.*37G>A) | gnomAD v4 |
7 | g.150945329C>A | CA2685600109 | KCNH2 | n.4349G>T c.*36G>T (n.*36G>T) | gnomAD v4 |
7 | g.150945329C>T | CA2685600110 | KCNH2 | n.4349G>A c.*36G>A (n.*36G>A) | gnomAD v4 |
7 | g.150945330C>A | CA2685600111 | KCNH2 | n.4348G>T c.*35G>T (n.*35G>T) | gnomAD v4 |
7 | g.150945330C>T | CA2685600112 | KCNH2 | n.4348G>A c.*35G>A (n.*35G>A) | gnomAD v4 |
7 | g.150945331T>C | CA2685600113 | KCNH2 | n.4347A>G c.*34A>G (n.*34A>G) | gnomAD v4 |
7 | g.150945332G>A | CA2685600115 | KCNH2 | n.4346C>T c.*33C>T (n.*33C>T) | gnomAD v4 |
7 | g.150945332G>T | CA2579062380 | KCNH2 | n.4346C>A c.*33C>A (n.*33C>A) | gnomAD v4 |
7 | g.150945334del | CA2685600114 | KCNH2 | n.4346del c.*33del (n.*33del) | gnomAD v4 |
7 | g.150945333G>A | CA578700765 | KCNH2 | n.4345C>T c.*32C>T (n.*32C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945333G>C | CA2685600116 | KCNH2 | n.4345C>G c.*32C>G (n.*32C>G) | gnomAD v4 |
7 | g.150945333G= | CA1752425462 | KCNH2 | n.4345C= c.*32C= (n.*32C=) | |
7 | g.150945333G>T | CA578700766 | KCNH2 | n.4345C>A c.*32C>A (n.*32C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945334G>A | CA578700767 | KCNH2 | n.4344C>T c.*31C>T (n.*31C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945334G= | CA1752425466 | KCNH2 | n.4344C= c.*31C= (n.*31C=) | |
7 | g.150945334G>T | CA2685600117 | KCNH2 | n.4344C>A c.*31C>A (n.*31C>A) | gnomAD v4 |
7 | g.150945335T>C | CA2579062381 | KCNH2 | n.4343A>G c.*30A>G (n.*30A>G) | |
7 | g.150945336G>A | CA578700768 | KCNH2 | n.4342C>T c.*29C>T (n.*29C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945336G= | CA1752425468 | KCNH2 | n.4342C= c.*29C= (n.*29C=) | |
7 | g.150945336G>T | CA458644499 | KCNH2 | n.4342C>A c.*29C>A (n.*29C>A) | gnomAD v4 |
7 | g.150945337_150945338del | CA2685600118 | KCNH2 | n.4341_4342del c.*28_*29del (n.*28_*29del) | gnomAD v4 |
7 | g.150945337A= | CA1752425470 | KCNH2 | n.4341T= c.*28T= (n.*28T=) | |
7 | g.150945337A>G | CA2685600119 | KCNH2 | n.4341T>C c.*28T>C (n.*28T>C) | gnomAD v4 |
7 | g.150945337A>T | CA1752425471 | KCNH2 | n.4341T>A c.*28T>A (n.*28T>A) | dbSNP gnomAD v4 |
7 | g.150945337_150945338delinsAG | CA1752425472 | KCNH2 | n.4340_4341delinsCT c.*27_*28delinsCT (n.*27_*28delinsCT) | |
7 | g.150945338del | CA1752425474 | KCNH2 | n.4340del c.*27del (n.*27del) | dbSNP |
7 | g.150945338G>A | CA1752425476 | KCNH2 | n.4340C>T c.*27C>T (n.*27C>T) | dbSNP gnomAD v4 |
7 | g.150945338G= | CA1752425475 | KCNH2 | n.4340C= c.*27C= (n.*27C=) | |
7 | g.150945338G>T | CA2685600120 | KCNH2 | n.4340C>A c.*27C>A (n.*27C>A) | gnomAD v4 |
7 | g.150945339C>A | CA2532599195 | KCNH2 | n.4339G>T c.*26G>T (n.*26G>T) | gnomAD v4 |
7 | g.150945339C>T | CA2685600121 | KCNH2 | n.4339G>A c.*26G>A (n.*26G>A) | gnomAD v4 |
7 | g.150945340C>A | CA2685600123 | KCNH2 | n.4338G>T c.*25G>T (n.*25G>T) | gnomAD v4 |
7 | g.150945340C>T | CA2685600124 | KCNH2 | n.4338G>A c.*25G>A (n.*25G>A) | gnomAD v4 |
7 | g.150945340_150945344del | CA2685600122 | KCNH2 | n.4334_4338del c.*21_*25del (n.*21_*25del) | gnomAD v4 |
7 | g.150945341A= | CA1752425479 | KCNH2 | n.4337T= c.*24T= (n.*24T=) | |
7 | g.150945341A>C | CA2685600125 | KCNH2 | n.4337T>G c.*24T>G (n.*24T>G) | gnomAD v4 |
7 | g.150945341A>T | CA578700769 | KCNH2 | n.4337T>A c.*24T>A (n.*24T>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945342C>A | CA2685600126 | KCNH2 | n.4336G>T c.*23G>T (n.*23G>T) | gnomAD v4 |
7 | g.150945342C= | CA1752425482 | KCNH2 | n.4336G= c.*23G= (n.*23G=) | |
7 | g.150945342C>G | CA2685600127 | KCNH2 | n.4336G>C c.*23G>C (n.*23G>C) | gnomAD v4 |
7 | g.150945342C>T | CA032641 | KCNH2 | n.4336G>A c.*23G>A (n.*23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945343G>A | CA578700771 | KCNH2 | n.4335C>T c.*22C>T (n.*22C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945343G= | CA1752425485 | KCNH2 | n.4335C= c.*22C= (n.*22C=) | |
7 | g.150945343G>T | CA031580 | KCNH2 | n.4335C>A c.*22C>A (n.*22C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945344T>C | CA031301 | KCNH2 | n.4334A>G c.*21A>G (n.*21A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150945344T= | CA1752425488 | KCNH2 | n.4334A= c.*21A= (n.*21A=) | |
7 | g.150945345G>A | CA2685600128 | KCNH2 | n.4333C>T c.*20C>T (n.*20C>T) | gnomAD v4 |
7 | g.150945345G>C | CA2685600129 | KCNH2 | n.4333C>G c.*20C>G (n.*20C>G) | gnomAD v4 |
7 | g.150945345G>T | CA2685600130 | KCNH2 | n.4333C>A c.*20C>A (n.*20C>A) | gnomAD v4 |
7 | g.150945346T>C | CA2579062382 | KCNH2 | n.4332A>G c.*19A>G (n.*19A>G) | |
7 | g.150945346_150945347delinsTC | CA1752425490 | KCNH2 | n.4331_4332delinsGA c.*18_*19delinsGA (n.*18_*19delinsGA) | |
7 | g.150945347C>A | CA2685600131 | KCNH2 | n.4331G>T c.*18G>T (n.*18G>T) | gnomAD v4 |
7 | g.150945347C>T | CA2685600132 | KCNH2 | n.4331G>A c.*18G>A (n.*18G>A) | gnomAD v4 |
7 | g.150945348del | CA1752425491 | KCNH2 | n.4331del c.*18del (n.*18del) | dbSNP |
7 | g.150945348C>A | CA2685600133 | KCNH2 | n.4330G>T c.*17G>T (n.*17G>T) | gnomAD v4 |
7 | g.150945348C= | CA1752425496 | KCNH2 | n.4330G= c.*17G= (n.*17G=) | |
7 | g.150945348C>G | CA16605722 | KCNH2 | n.4330G>C c.*17G>C (n.*17G>C) | ClinVar dbSNP |
7 | g.150945348C>T | CA2685600134 | KCNH2 | n.4330G>A c.*17G>A (n.*17G>A) | gnomAD v4 |
7 | g.150945350C>A | CA2685600135 | KCNH2 | n.4328G>T c.*15G>T (n.*15G>T) | gnomAD v4 |
7 | g.150945350C= | CA1752425499 | KCNH2 | n.4328G= c.*15G= (n.*15G=) | |
7 | g.150945350C>T | CA028865 | KCNH2 | n.4328G>A c.*15G>A (n.*15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945351A= | CA1752425502 | KCNH2 | n.4327T= c.*14T= (n.*14T=) | |
7 | g.150945351A>G | CA4566412 | KCNH2 | n.4327T>C c.*14T>C (n.*14T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945351_150945360delinsACTGGGCAGC | CA1752425504 | KCNH2 | n.4318_4327delinsGCTGCCCAGT c.*5_*14delinsGCTGCCCAGT (n.*5_*14delinsGCTGCCCAGT) | |
7 | g.150945352C>A | CA578700781 | KCNH2 | n.4326G>T c.*13G>T (n.*13G>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945352C= | CA1752425507 | KCNH2 | n.4326G= c.*13G= (n.*13G=) | |
7 | g.150945352C>G | CA2685600136 | KCNH2 | n.4326G>C c.*13G>C (n.*13G>C) | gnomAD v4 |
7 | g.150945352C>T | CA2685600137 | KCNH2 | n.4326G>A c.*13G>A (n.*13G>A) | gnomAD v4 |
7 | g.150945353_150945361del | CA4566411 | KCNH2 | n.4318_4326del c.*5_*13del (n.*5_*13del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150945353T>C | CA2579062383 | KCNH2 | n.4325A>G c.*12A>G (n.*12A>G) | gnomAD v4 |
7 | g.150945353T>G | CA169070300 | KCNH2 | n.4325A>C c.*12A>C (n.*12A>C) | dbSNP |
7 | g.150945353T= | CA1752425511 | KCNH2 | n.4325A= c.*12A= (n.*12A=) | |
7 | g.150945354G>A | CA2685600138 | KCNH2 | n.4324C>T c.*11C>T (n.*11C>T) | gnomAD v4 |
7 | g.150945354G>T | CA2685600139 | KCNH2 | n.4324C>A c.*11C>A (n.*11C>A) | gnomAD v4 |
7 | g.150945355G>A | CA2685600140 | KCNH2 | n.4323C>T c.*10C>T (n.*10C>T) | gnomAD v4 |
7 | g.150945355G>T | CA2685600141 | KCNH2 | n.4323C>A c.*10C>A (n.*10C>A) | gnomAD v4 |
7 | g.150945356G>A | CA2685600142 | KCNH2 | n.4322C>T c.*9C>T (n.*9C>T) | gnomAD v4 |
7 | g.150945356G>T | CA2685600143 | KCNH2 | n.4322C>A c.*9C>A (n.*9C>A) | gnomAD v4 |
7 | g.150945357C>A | CA2685600144 | KCNH2 | n.4321G>T c.*8G>T (n.*8G>T) | dbSNP gnomAD v4 |
7 | g.150945357C>T | CA2685600145 | KCNH2 | n.4321G>A c.*8G>A (n.*8G>A) | gnomAD v4 |
7 | g.150945359G>A | CA578700782 | KCNH2 | n.4319C>T c.*6C>T (n.*6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945359G= | CA1752425514 | KCNH2 | n.4319C= c.*6C= (n.*6C=) | |
7 | g.150945359G>T | CA2685600146 | KCNH2 | n.4319C>A c.*6C>A (n.*6C>A) | gnomAD v4 |
7 | g.150945360C>G | CA2685600148 | KCNH2 | n.4318G>C c.*5G>C (n.*5G>C) | gnomAD v4 |
7 | g.150945360C>T | CA2685600149 | KCNH2 | n.4318G>A c.*5G>A (n.*5G>A) | gnomAD v4 |
7 | g.150945363del | CA2685600147 | KCNH2 | n.4318del c.*5del (n.*5del) | gnomAD v4 |
7 | g.150945361C>A | CA2685600150 | KCNH2 | n.4317G>T c.*4G>T (n.*4G>T) | gnomAD v4 |
7 | g.150945361C>T | CA2685600151 | KCNH2 | n.4317G>A c.*4G>A (n.*4G>A) | gnomAD v4 |
7 | g.150945362C>A | CA578700784 | KCNH2 | n.4316G>T c.*3G>T (n.*3G>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945362C= | CA1752425517 | KCNH2 | n.4316G= c.*3G= (n.*3G=) | |
7 | g.150945363C>A | CA2685600152 | KCNH2 | n.4315G>T c.*2G>T (n.*2G>T) | gnomAD v4 |
7 | g.150945363C= | CA1752425519 | KCNH2 | n.4315G= c.*2G= (n.*2G=) | |
7 | g.150945363C>T | CA578700785 | KCNH2 | n.4315G>A c.*2G>A (n.*2G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945364A>G | CA2685600153 | KCNH2 | n.4314T>C c.*1T>C (n.*1T>C) | gnomAD v4 |
7 | g.150945365C>A | CA369851331 | KCNH2 | n.4313G>T c.3480G>T (p.Ter1160Tyr) c.2460G>T (p.Ter820Tyr) c.3180G>T (p.Ter1060Tyr) c.3330G>T (p.Ter1110Tyr) c.3303G>T (p.Ter1101Tyr) | dbSNP gnomAD v4 |
7 | g.150945365C= | CA1752425524 | KCNH2 | n.4313G= c.3480G= (p.Ter1160=) c.2460G= (p.Ter820=) c.3180G= (p.Ter1060=) c.3330G= (p.Ter1110=) c.3303G= (p.Ter1101=) | |
7 | g.150945365C>G | CA369851332 | KCNH2 | n.4313G>C c.3480G>C (p.Ter1160Tyr) c.2460G>C (p.Ter820Tyr) c.3180G>C (p.Ter1060Tyr) c.3330G>C (p.Ter1110Tyr) c.3303G>C (p.Ter1101Tyr) | |
7 | g.150945365C>T | CA458644500 | KCNH2 | n.4313G>A c.3480G>A (p.Ter1160=) c.2460G>A (p.Ter820=) c.3180G>A (p.Ter1060=) c.3330G>A (p.Ter1110=) c.3303G>A (p.Ter1101=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.150945366T>A | CA369851333 | KCNH2 | n.4312A>T c.3479A>T (p.Ter1160Leu) c.2459A>T (p.Ter820Leu) c.3179A>T (p.Ter1060Leu) c.3329A>T (p.Ter1110Leu) c.3302A>T (p.Ter1101Leu) | |
7 | g.150945366T>C | CA369851334 | KCNH2 | n.4312A>G c.3479A>G (p.Ter1160Trp) c.2459A>G (p.Ter820Trp) c.3179A>G (p.Ter1060Trp) c.3329A>G (p.Ter1110Trp) c.3302A>G (p.Ter1101Trp) | |
7 | g.150945366T>G | CA369851335 | KCNH2 | n.4312A>C c.3479A>C (p.Ter1160Ser) c.2459A>C (p.Ter820Ser) c.3179A>C (p.Ter1060Ser) c.3329A>C (p.Ter1110Ser) c.3302A>C (p.Ter1101Ser) | |
7 | g.150945367A>C | CA369851336 | KCNH2 | n.4311T>G c.3478T>G (p.Ter1160Glu) c.2458T>G (p.Ter820Glu) c.3178T>G (p.Ter1060Glu) c.3328T>G (p.Ter1110Glu) c.3301T>G (p.Ter1101Glu) | ClinVar |
7 | g.150945367A>G | CA369851337 | KCNH2 | n.4311T>C c.3478T>C (p.Ter1160Gln) c.2458T>C (p.Ter820Gln) c.3178T>C (p.Ter1060Gln) c.3328T>C (p.Ter1110Gln) c.3301T>C (p.Ter1101Gln) | ClinVar |
7 | g.150945367A>T | CA369851338 | KCNH2 | n.4311T>A c.3478T>A (p.Ter1160Lys) c.2458T>A (p.Ter820Lys) c.3178T>A (p.Ter1060Lys) c.3328T>A (p.Ter1110Lys) c.3301T>A (p.Ter1101Lys) | |
7 | g.150945368A>C | CA369851339 | KCNH2 | n.4310T>G c.3477T>G (p.Ser1159Arg) c.2457T>G (p.Ser819Arg) c.3177T>G (p.Ser1059Arg) c.3327T>G (p.Ser1109Arg) c.3300T>G (p.Ser1100Arg) | |
7 | g.150945368A>G | CA458644501 | KCNH2 | n.4310T>C c.3477T>C (p.Ser1159=) c.2457T>C (p.Ser819=) c.3177T>C (p.Ser1059=) c.3327T>C (p.Ser1109=) c.3300T>C (p.Ser1100=) | |
7 | g.150945368A>T | CA369851340 | KCNH2 | n.4310T>A c.3477T>A (p.Ser1159Arg) c.2457T>A (p.Ser819Arg) c.3177T>A (p.Ser1059Arg) c.3327T>A (p.Ser1109Arg) c.3300T>A (p.Ser1100Arg) | |
7 | g.150945369C>A | CA369851341 | KCNH2 | n.4309G>T c.3476G>T (p.Ser1159Ile) c.2456G>T (p.Ser819Ile) c.3176G>T (p.Ser1059Ile) c.3326G>T (p.Ser1109Ile) c.3299G>T (p.Ser1100Ile) | |
7 | g.150945369C>G | CA369851343 | KCNH2 | n.4309G>C c.3476G>C (p.Ser1159Thr) c.2456G>C (p.Ser819Thr) c.3176G>C (p.Ser1059Thr) c.3326G>C (p.Ser1109Thr) c.3299G>C (p.Ser1100Thr) | |
7 | g.150945369C>T | CA369851342 | KCNH2 | n.4309G>A c.3476G>A (p.Ser1159Asn) c.2456G>A (p.Ser819Asn) c.3176G>A (p.Ser1059Asn) c.3326G>A (p.Ser1109Asn) c.3299G>A (p.Ser1100Asn) | |
7 | g.150945370T>A | CA369851344 | KCNH2 | n.4308A>T c.3475A>T (p.Ser1159Cys) c.2455A>T (p.Ser819Cys) c.3175A>T (p.Ser1059Cys) c.3325A>T (p.Ser1109Cys) c.3298A>T (p.Ser1100Cys) | |
7 | g.150945370T>C | CA369851345 | KCNH2 | n.4308A>G c.3475A>G (p.Ser1159Gly) c.2455A>G (p.Ser819Gly) c.3175A>G (p.Ser1059Gly) c.3325A>G (p.Ser1109Gly) c.3298A>G (p.Ser1100Gly) | |
7 | g.150945370T>G | CA369851346 | KCNH2 | n.4308A>C c.3475A>C (p.Ser1159Arg) c.2455A>C (p.Ser819Arg) c.3175A>C (p.Ser1059Arg) c.3325A>C (p.Ser1109Arg) c.3298A>C (p.Ser1100Arg) | dbSNP gnomAD v4 |
7 | g.150945370T= | CA1752425526 | KCNH2 | n.4308A= c.3475A= (p.Ser1159=) c.2455A= (p.Ser819=) c.3175A= (p.Ser1059=) c.3325A= (p.Ser1109=) c.3298A= (p.Ser1100=) | |
7 | g.150945371G>A | CA458644502 | KCNH2 | n.4307C>T c.3474C>T (p.Gly1158=) c.2454C>T (p.Gly818=) c.3174C>T (p.Gly1058=) c.3324C>T (p.Gly1108=) c.3297C>T (p.Gly1099=) | gnomAD v4 |
7 | g.150945371G>C | CA458644503 | KCNH2 | n.4307C>G c.3474C>G (p.Gly1158=) c.2454C>G (p.Gly818=) c.3174C>G (p.Gly1058=) c.3324C>G (p.Gly1108=) c.3297C>G (p.Gly1099=) | |
7 | g.150945371G>T | CA458644504 | KCNH2 | n.4307C>A c.3474C>A (p.Gly1158=) c.2454C>A (p.Gly818=) c.3174C>A (p.Gly1058=) c.3324C>A (p.Gly1108=) c.3297C>A (p.Gly1099=) | ClinVar gnomAD v4 |
7 | g.150945372C>A | CA369851347 | KCNH2 | n.4306G>T c.3473G>T (p.Gly1158Val) c.2453G>T (p.Gly818Val) c.3173G>T (p.Gly1058Val) c.3323G>T (p.Gly1108Val) c.3296G>T (p.Gly1099Val) | |
7 | g.150945372C= | CA1752425529 | KCNH2 | n.4306G= c.3473G= (p.Gly1158=) c.2453G= (p.Gly818=) c.3173G= (p.Gly1058=) c.3323G= (p.Gly1108=) c.3296G= (p.Gly1099=) | |
7 | g.150945372C>G | CA369851348 | KCNH2 | n.4306G>C c.3473G>C (p.Gly1158Ala) c.2453G>C (p.Gly818Ala) c.3173G>C (p.Gly1058Ala) c.3323G>C (p.Gly1108Ala) c.3296G>C (p.Gly1099Ala) | ClinVar dbSNP |
7 | g.150945372C>T | CA369851349 | KCNH2 | n.4306G>A c.3473G>A (p.Gly1158Asp) c.2453G>A (p.Gly818Asp) c.3173G>A (p.Gly1058Asp) c.3323G>A (p.Gly1108Asp) c.3296G>A (p.Gly1099Asp) | gnomAD v4 |
7 | g.150945373C>A | CA369851350 | KCNH2 | n.4305G>T c.3472G>T (p.Gly1158Cys) c.2452G>T (p.Gly818Cys) c.3172G>T (p.Gly1058Cys) c.3322G>T (p.Gly1108Cys) c.3295G>T (p.Gly1099Cys) | |
7 | g.150945373C>G | CA369851351 | KCNH2 | n.4305G>C c.3472G>C (p.Gly1158Arg) c.2452G>C (p.Gly818Arg) c.3172G>C (p.Gly1058Arg) c.3322G>C (p.Gly1108Arg) c.3295G>C (p.Gly1099Arg) | |
7 | g.150945373C>T | CA369851352 | KCNH2 | n.4305G>A c.3472G>A (p.Gly1158Ser) c.2452G>A (p.Gly818Ser) c.3172G>A (p.Gly1058Ser) c.3322G>A (p.Gly1108Ser) c.3295G>A (p.Gly1099Ser) | |
7 | g.150945374C>A | CA458644505 | KCNH2 | n.4304G>T c.3471G>T (p.Pro1157=) c.2451G>T (p.Pro817=) c.3171G>T (p.Pro1057=) c.3321G>T (p.Pro1107=) c.3294G>T (p.Pro1098=) | gnomAD v4 |
7 | g.150945374C= | CA1752425532 | KCNH2 | n.4304G= c.3471G= (p.Pro1157=) c.2451G= (p.Pro817=) c.3171G= (p.Pro1057=) c.3321G= (p.Pro1107=) c.3294G= (p.Pro1098=) | |
7 | g.150945374C>G | CA458644506 | KCNH2 | n.4304G>C c.3471G>C (p.Pro1157=) c.2451G>C (p.Pro817=) c.3171G>C (p.Pro1057=) c.3321G>C (p.Pro1107=) c.3294G>C (p.Pro1098=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945374C>T | CA039135 | KCNH2 | n.4304G>A c.3471G>A (p.Pro1157=) c.2451G>A (p.Pro817=) c.3171G>A (p.Pro1057=) c.3321G>A (p.Pro1107=) c.3294G>A (p.Pro1098=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945375G>A | CA008345 | KCNH2 | n.4303C>T c.3470C>T (p.Pro1157Leu) c.2450C>T (p.Pro817Leu) c.3170C>T (p.Pro1057Leu) c.3320C>T (p.Pro1107Leu) c.3293C>T (p.Pro1098Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945375G>C | CA369851354 | KCNH2 | n.4303C>G c.3470C>G (p.Pro1157Arg) c.2450C>G (p.Pro817Arg) c.3170C>G (p.Pro1057Arg) c.3320C>G (p.Pro1107Arg) c.3293C>G (p.Pro1098Arg) | |
7 | g.150945375G= | CA1752425541 | KCNH2 | n.4303C= c.3470C= (p.Pro1157=) c.2450C= (p.Pro817=) c.3170C= (p.Pro1057=) c.3320C= (p.Pro1107=) c.3293C= (p.Pro1098=) | |
7 | g.150945375G>T | CA369851353 | KCNH2 | n.4303C>A c.3470C>A (p.Pro1157Gln) c.2450C>A (p.Pro817Gln) c.3170C>A (p.Pro1057Gln) c.3320C>A (p.Pro1107Gln) c.3293C>A (p.Pro1098Gln) | gnomAD v4 |
7 | g.150945377dup | CA305340 | KCNH2 | n.4303dup c.3470dup (p.Ser1159GlnfsTer?) c.2450dup (p.Ser819GlnfsTer?) c.3170dup (p.Ser1059GlnfsTer?) c.3320dup (p.Ser1109GlnfsTer?) c.3293dup (p.Ser1100GlnfsTer?) | ClinVar dbSNP |
7 | g.150945376G>A | CA369851355 | KCNH2 | n.4302C>T c.3469C>T (p.Pro1157Ser) c.2449C>T (p.Pro817Ser) c.3169C>T (p.Pro1057Ser) c.3319C>T (p.Pro1107Ser) c.3292C>T (p.Pro1098Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150945376G>C | CA369851356 | KCNH2 | n.4302C>G c.3469C>G (p.Pro1157Ala) c.2449C>G (p.Pro817Ala) c.3169C>G (p.Pro1057Ala) c.3319C>G (p.Pro1107Ala) c.3292C>G (p.Pro1098Ala) | |
7 | g.150945376G= | CA1752425549 | KCNH2 | n.4302C= c.3469C= (p.Pro1157=) c.2449C= (p.Pro817=) c.3169C= (p.Pro1057=) c.3319C= (p.Pro1107=) c.3292C= (p.Pro1098=) | |
7 | g.150945376G>T | CA369851357 | KCNH2 | n.4302C>A c.3469C>A (p.Pro1157Thr) c.2449C>A (p.Pro817Thr) c.3169C>A (p.Pro1057Thr) c.3319C>A (p.Pro1107Thr) c.3292C>A (p.Pro1098Thr) | gnomAD v4 |
7 | g.150945377G>A | CA458644507 | KCNH2 | n.4301C>T c.3468C>T (p.Asp1156=) c.2448C>T (p.Asp816=) c.3168C>T (p.Asp1056=) c.3318C>T (p.Asp1106=) c.3291C>T (p.Asp1097=) | gnomAD v4 |
7 | g.150945377G>C | CA369851358 | KCNH2 | n.4301C>G c.3468C>G (p.Asp1156Glu) c.2448C>G (p.Asp816Glu) c.3168C>G (p.Asp1056Glu) c.3318C>G (p.Asp1106Glu) c.3291C>G (p.Asp1097Glu) | |
7 | g.150945377G>T | CA369851359 | KCNH2 | n.4301C>A c.3468C>A (p.Asp1156Glu) c.2448C>A (p.Asp816Glu) c.3168C>A (p.Asp1056Glu) c.3318C>A (p.Asp1106Glu) c.3291C>A (p.Asp1097Glu) | gnomAD v4 |
7 | g.150945378T>A | CA369851360 | KCNH2 | n.4300A>T c.3467A>T (p.Asp1156Val) c.2447A>T (p.Asp816Val) c.3167A>T (p.Asp1056Val) c.3317A>T (p.Asp1106Val) c.3290A>T (p.Asp1097Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150945378T>C | CA369851361 | KCNH2 | n.4300A>G c.3467A>G (p.Asp1156Gly) c.2447A>G (p.Asp816Gly) c.3167A>G (p.Asp1056Gly) c.3317A>G (p.Asp1106Gly) c.3290A>G (p.Asp1097Gly) | ClinVar dbSNP |
7 | g.150945378T>G | CA369851362 | KCNH2 | n.4300A>C c.3467A>C (p.Asp1156Ala) c.2447A>C (p.Asp816Ala) c.3167A>C (p.Asp1056Ala) c.3317A>C (p.Asp1106Ala) c.3290A>C (p.Asp1097Ala) | |
7 | g.150945378T= | CA1752425558 | KCNH2 | n.4300A= c.3467A= (p.Asp1156=) c.2447A= (p.Asp816=) c.3167A= (p.Asp1056=) c.3317A= (p.Asp1106=) c.3290A= (p.Asp1097=) | |
7 | g.150945379C>A | CA369851363 | KCNH2 | n.4299G>T c.3466G>T (p.Asp1156Tyr) c.2446G>T (p.Asp816Tyr) c.3166G>T (p.Asp1056Tyr) c.3316G>T (p.Asp1106Tyr) c.3289G>T (p.Asp1097Tyr) | ClinVar |
7 | g.150945379C>G | CA369851364 | KCNH2 | n.4299G>C c.3466G>C (p.Asp1156His) c.2446G>C (p.Asp816His) c.3166G>C (p.Asp1056His) c.3316G>C (p.Asp1106His) c.3289G>C (p.Asp1097His) | ClinVar dbSNP |
7 | g.150945379C>T | CA369851365 | KCNH2 | n.4299G>A c.3466G>A (p.Asp1156Asn) c.2446G>A (p.Asp816Asn) c.3166G>A (p.Asp1056Asn) c.3316G>A (p.Asp1106Asn) c.3289G>A (p.Asp1097Asn) | ClinVar |
7 | g.150945380C>A | CA458644508 | KCNH2 | n.4298G>T c.3465G>T (p.Ser1155=) c.2445G>T (p.Ser815=) c.3165G>T (p.Ser1055=) c.3315G>T (p.Ser1105=) c.3288G>T (p.Ser1096=) | gnomAD v4 |
7 | g.150945380C= | CA1752425565 | KCNH2 | n.4298G= c.3465G= (p.Ser1155=) c.2445G= (p.Ser815=) c.3165G= (p.Ser1055=) c.3315G= (p.Ser1105=) c.3288G= (p.Ser1096=) | |
7 | g.150945380C>G | CA458644509 | KCNH2 | n.4298G>C c.3465G>C (p.Ser1155=) c.2445G>C (p.Ser815=) c.3165G>C (p.Ser1055=) c.3315G>C (p.Ser1105=) c.3288G>C (p.Ser1096=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945380C>T | CA039102 | KCNH2 | n.4298G>A c.3465G>A (p.Ser1155=) c.2445G>A (p.Ser815=) c.3165G>A (p.Ser1055=) c.3315G>A (p.Ser1105=) c.3288G>A (p.Ser1096=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945381G>A | CA169070309 | KCNH2 | n.4297C>T c.3464C>T (p.Ser1155Leu) c.2444C>T (p.Ser815Leu) c.3164C>T (p.Ser1055Leu) c.3314C>T (p.Ser1105Leu) c.3287C>T (p.Ser1096Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945381G>C | CA369851366 | KCNH2 | n.4297C>G c.3464C>G (p.Ser1155Trp) c.2444C>G (p.Ser815Trp) c.3164C>G (p.Ser1055Trp) c.3314C>G (p.Ser1105Trp) c.3287C>G (p.Ser1096Trp) | gnomAD v4 |
7 | g.150945381G= | CA1752425567 | KCNH2 | n.4297C= c.3464C= (p.Ser1155=) c.2444C= (p.Ser815=) c.3164C= (p.Ser1055=) c.3314C= (p.Ser1105=) c.3287C= (p.Ser1096=) | |
7 | g.150945381G>T | CA169070317 | KCNH2 | n.4297C>A c.3464C>A (p.Ser1155Ter) c.2444C>A (p.Ser815Ter) c.3164C>A (p.Ser1055Ter) c.3314C>A (p.Ser1105Ter) c.3287C>A (p.Ser1096Ter) | dbSNP gnomAD v4 |
7 | g.150945382A>C | CA369851367 | KCNH2 | n.4296T>G c.3463T>G (p.Ser1155Ala) c.2443T>G (p.Ser815Ala) c.3163T>G (p.Ser1055Ala) c.3313T>G (p.Ser1105Ala) c.3286T>G (p.Ser1096Ala) | |
7 | g.150945382A>G | CA369851368 | KCNH2 | n.4296T>C c.3463T>C (p.Ser1155Pro) c.2443T>C (p.Ser815Pro) c.3163T>C (p.Ser1055Pro) c.3313T>C (p.Ser1105Pro) c.3286T>C (p.Ser1096Pro) | gnomAD v4 |
7 | g.150945382A>T | CA369851369 | KCNH2 | n.4296T>A c.3463T>A (p.Ser1155Thr) c.2443T>A (p.Ser815Thr) c.3163T>A (p.Ser1055Thr) c.3313T>A (p.Ser1105Thr) c.3286T>A (p.Ser1096Thr) | |
7 | g.150945383G>A | CA458644510 | KCNH2 | n.4295C>T c.3462C>T (p.Gly1154=) c.2442C>T (p.Gly814=) c.3162C>T (p.Gly1054=) c.3312C>T (p.Gly1104=) c.3285C>T (p.Gly1095=) | |
7 | g.150945383G>C | CA458644511 | KCNH2 | n.4295C>G c.3462C>G (p.Gly1154=) c.2442C>G (p.Gly814=) c.3162C>G (p.Gly1054=) c.3312C>G (p.Gly1104=) c.3285C>G (p.Gly1095=) | |
7 | g.150945383G>T | CA458644512 | KCNH2 | n.4295C>A c.3462C>A (p.Gly1154=) c.2442C>A (p.Gly814=) c.3162C>A (p.Gly1054=) c.3312C>A (p.Gly1104=) c.3285C>A (p.Gly1095=) | gnomAD v4 |
7 | g.150945384C>A | CA369851370 | KCNH2 | n.4294G>T c.3461G>T (p.Gly1154Val) c.2441G>T (p.Gly814Val) c.3161G>T (p.Gly1054Val) c.3311G>T (p.Gly1104Val) c.3284G>T (p.Gly1095Val) | gnomAD v4 |
7 | g.150945384C>G | CA369851371 | KCNH2 | n.4294G>C c.3461G>C (p.Gly1154Ala) c.2441G>C (p.Gly814Ala) c.3161G>C (p.Gly1054Ala) c.3311G>C (p.Gly1104Ala) c.3284G>C (p.Gly1095Ala) | |
7 | g.150945384C>T | CA369851372 | KCNH2 | n.4294G>A c.3461G>A (p.Gly1154Asp) c.2441G>A (p.Gly814Asp) c.3161G>A (p.Gly1054Asp) c.3311G>A (p.Gly1104Asp) c.3284G>A (p.Gly1095Asp) | gnomAD v4 |
7 | g.150945385C>A | CA369851374 | KCNH2 | n.4293G>T c.3460G>T (p.Gly1154Cys) c.2440G>T (p.Gly814Cys) c.3160G>T (p.Gly1054Cys) c.3310G>T (p.Gly1104Cys) c.3283G>T (p.Gly1095Cys) | ClinVar gnomAD v4 |
7 | g.150945385C= | CA1752425569 | KCNH2 | n.4293G= c.3460G= (p.Gly1154=) c.2440G= (p.Gly814=) c.3160G= (p.Gly1054=) c.3310G= (p.Gly1104=) c.3283G= (p.Gly1095=) | |
7 | g.150945385C>G | CA369851373 | KCNH2 | n.4293G>C c.3460G>C (p.Gly1154Arg) c.2440G>C (p.Gly814Arg) c.3160G>C (p.Gly1054Arg) c.3310G>C (p.Gly1104Arg) c.3283G>C (p.Gly1095Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.150945385C>T | CA008338 | KCNH2 | n.4293G>A c.3460G>A (p.Gly1154Ser) c.2440G>A (p.Gly814Ser) c.3160G>A (p.Gly1054Ser) c.3310G>A (p.Gly1104Ser) c.3283G>A (p.Gly1095Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.150945386G>A | CA039085 | KCNH2 | n.4292C>T c.3459C>T (p.His1153=) c.2439C>T (p.His813=) c.3159C>T (p.His1053=) c.3309C>T (p.His1103=) c.3282C>T (p.His1094=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945386G>C | CA369851375 | KCNH2 | n.4292C>G c.3459C>G (p.His1153Gln) c.2439C>G (p.His813Gln) c.3159C>G (p.His1053Gln) c.3309C>G (p.His1103Gln) c.3282C>G (p.His1094Gln) | ClinVar |
7 | g.150945386G= | CA1752425577 | KCNH2 | n.4292C= c.3459C= (p.His1153=) c.2439C= (p.His813=) c.3159C= (p.His1053=) c.3309C= (p.His1103=) c.3282C= (p.His1094=) | |
7 | g.150945386G>T | CA369851376 | KCNH2 | n.4292C>A c.3459C>A (p.His1153Gln) c.2439C>A (p.His813Gln) c.3159C>A (p.His1053Gln) c.3309C>A (p.His1103Gln) c.3282C>A (p.His1094Gln) | ClinVar gnomAD v4 |
7 | g.150945387T>A | CA369851377 | KCNH2 | n.4291A>T c.3458A>T (p.His1153Leu) c.2438A>T (p.His813Leu) c.3158A>T (p.His1053Leu) c.3308A>T (p.His1103Leu) c.3281A>T (p.His1094Leu) | |
7 | g.150945387T>C | CA369851378 | KCNH2 | n.4291A>G c.3458A>G (p.His1153Arg) c.2438A>G (p.His813Arg) c.3158A>G (p.His1053Arg) c.3308A>G (p.His1103Arg) c.3281A>G (p.His1094Arg) | |
7 | g.150945387T>G | CA369851379 | KCNH2 | n.4291A>C c.3458A>C (p.His1153Pro) c.2438A>C (p.His813Pro) c.3158A>C (p.His1053Pro) c.3308A>C (p.His1103Pro) c.3281A>C (p.His1094Pro) | gnomAD v4 |
7 | g.150945387dup | CA2573141842 | KCNH2 | n.4291dup c.3458dup (p.His1153GlnfsTer?) c.2438dup (p.His813GlnfsTer?) c.3158dup (p.His1053GlnfsTer?) c.3308dup (p.His1103GlnfsTer?) c.3281dup (p.His1094GlnfsTer?) | ClinVar dbSNP |
7 | g.150945388G>A | CA008330 | KCNH2 | n.4290C>T c.3457C>T (p.His1153Tyr) c.2437C>T (p.His813Tyr) c.3157C>T (p.His1053Tyr) c.3307C>T (p.His1103Tyr) c.3280C>T (p.His1094Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945388G>C | CA369851381 | KCNH2 | n.4290C>G c.3457C>G (p.His1153Asp) c.2437C>G (p.His813Asp) c.3157C>G (p.His1053Asp) c.3307C>G (p.His1103Asp) c.3280C>G (p.His1094Asp) | |
7 | g.150945388G= | CA1752425580 | KCNH2 | n.4290C= c.3457C= (p.His1153=) c.2437C= (p.His813=) c.3157C= (p.His1053=) c.3307C= (p.His1103=) c.3280C= (p.His1094=) | |
7 | g.150945388G>T | CA369851380 | KCNH2 | n.4290C>A c.3457C>A (p.His1153Asn) c.2437C>A (p.His813Asn) c.3157C>A (p.His1053Asn) c.3307C>A (p.His1103Asn) c.3280C>A (p.His1094Asn) | gnomAD v4 |
7 | g.150945389T>A | CA369851382 | KCNH2 | n.4289A>T c.3456A>T (p.Arg1152Ser) c.2436A>T (p.Arg812Ser) c.3156A>T (p.Arg1052Ser) c.3306A>T (p.Arg1102Ser) c.3279A>T (p.Arg1093Ser) | |
7 | g.150945389T>C | CA458644513 | KCNH2 | n.4289A>G c.3456A>G (p.Arg1152=) c.2436A>G (p.Arg812=) c.3156A>G (p.Arg1052=) c.3306A>G (p.Arg1102=) c.3279A>G (p.Arg1093=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945389T>G | CA369851383 | KCNH2 | n.4289A>C c.3456A>C (p.Arg1152Ser) c.2436A>C (p.Arg812Ser) c.3156A>C (p.Arg1052Ser) c.3306A>C (p.Arg1102Ser) c.3279A>C (p.Arg1093Ser) | |
7 | g.150945389T= | CA1752425586 | KCNH2 | n.4289A= c.3456A= (p.Arg1152=) c.2436A= (p.Arg812=) c.3156A= (p.Arg1052=) c.3306A= (p.Arg1102=) c.3279A= (p.Arg1093=) | |
7 | g.150945390C>A | CA369851384 | KCNH2 | n.4288G>T c.3455G>T (p.Arg1152Ile) c.2435G>T (p.Arg812Ile) c.3155G>T (p.Arg1052Ile) c.3305G>T (p.Arg1102Ile) c.3278G>T (p.Arg1093Ile) | gnomAD v4 |
7 | g.150945390C>G | CA369851385 | KCNH2 | n.4288G>C c.3455G>C (p.Arg1152Thr) c.2435G>C (p.Arg812Thr) c.3155G>C (p.Arg1052Thr) c.3305G>C (p.Arg1102Thr) c.3278G>C (p.Arg1093Thr) | gnomAD v4 |
7 | g.150945390C>T | CA369851386 | KCNH2 | n.4288G>A c.3455G>A (p.Arg1152Lys) c.2435G>A (p.Arg812Lys) c.3155G>A (p.Arg1052Lys) c.3305G>A (p.Arg1102Lys) c.3278G>A (p.Arg1093Lys) | |
7 | g.150945390_150945392delinsCTG | CA1752425605 | KCNH2 | n.4286_4288delinsCAG c.3453_3455delinsCAG (p.His1151=) c.2433_2435delinsCAG (p.His811=) c.3153_3155delinsCAG (p.His1051=) c.3303_3305delinsCAG (p.His1101=) c.3276_3278delinsCAG (p.His1092=) | |
7 | g.150945391T>A | CA369851387 | KCNH2 | n.4287A>T c.3454A>T (p.Arg1152Ter) c.2434A>T (p.Arg812Ter) c.3154A>T (p.Arg1052Ter) c.3304A>T (p.Arg1102Ter) c.3277A>T (p.Arg1093Ter) | gnomAD v4 |
7 | g.150945391T>C | CA369851388 | KCNH2 | n.4287A>G c.3454A>G (p.Arg1152Gly) c.2434A>G (p.Arg812Gly) c.3154A>G (p.Arg1052Gly) c.3304A>G (p.Arg1102Gly) c.3277A>G (p.Arg1093Gly) | gnomAD v4 |
7 | g.150945391T>G | CA458644514 | KCNH2 | n.4287A>C c.3454A>C (p.Arg1152=) c.2434A>C (p.Arg812=) c.3154A>C (p.Arg1052=) c.3304A>C (p.Arg1102=) c.3277A>C (p.Arg1093=) | |
7 | g.150945393_150945394del | CA658797025 | KCNH2 | n.4286_4287del c.3453_3454del (p.His1151GlnfsTer?) c.2433_2434del (p.His811GlnfsTer?) c.3153_3154del (p.His1051GlnfsTer?) c.3303_3304del (p.His1101GlnfsTer?) c.3276_3277del (p.His1092GlnfsTer?) | ClinVar dbSNP |
7 | g.150945392G>A | CA458644515 | KCNH2 | n.4286C>T c.3453C>T (p.His1151=) c.2433C>T (p.His811=) c.3153C>T (p.His1051=) c.3303C>T (p.His1101=) c.3276C>T (p.His1092=) | gnomAD v4 |
7 | g.150945392G>C | CA369851389 | KCNH2 | n.4286C>G c.3453C>G (p.His1151Gln) c.2433C>G (p.His811Gln) c.3153C>G (p.His1051Gln) c.3303C>G (p.His1101Gln) c.3276C>G (p.His1092Gln) | |
7 | g.150945392G= | CA1752425618 | KCNH2 | n.4286C= c.3453C= (p.His1151=) c.2433C= (p.His811=) c.3153C= (p.His1051=) c.3303C= (p.His1101=) c.3276C= (p.His1092=) | |
7 | g.150945392G>T | CA039062 | KCNH2 | n.4286C>A c.3453C>A (p.His1151Gln) c.2433C>A (p.His811Gln) c.3153C>A (p.His1051Gln) c.3303C>A (p.His1101Gln) c.3276C>A (p.His1092Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150945393T>A | CA369851390 | KCNH2 | n.4285A>T c.3452A>T (p.His1151Leu) c.2432A>T (p.His811Leu) c.3152A>T (p.His1051Leu) c.3302A>T (p.His1101Leu) c.3275A>T (p.His1092Leu) | |
7 | g.150945393T>C | CA369851391 | KCNH2 | n.4285A>G c.3452A>G (p.His1151Arg) c.2432A>G (p.His811Arg) c.3152A>G (p.His1051Arg) c.3302A>G (p.His1101Arg) c.3275A>G (p.His1092Arg) | gnomAD v4 |
7 | g.150945393T>G | CA369851392 | KCNH2 | n.4285A>C c.3452A>C (p.His1151Pro) c.2432A>C (p.His811Pro) c.3152A>C (p.His1051Pro) c.3302A>C (p.His1101Pro) c.3275A>C (p.His1092Pro) | |
7 | g.150945394G>A | CA369851395 | KCNH2 | n.4284C>T c.3451C>T (p.His1151Tyr) c.2431C>T (p.His811Tyr) c.3151C>T (p.His1051Tyr) c.3301C>T (p.His1101Tyr) c.3274C>T (p.His1092Tyr) | dbSNP gnomAD v4 |
7 | g.150945394G>C | CA369851393 | KCNH2 | n.4284C>G c.3451C>G (p.His1151Asp) c.2431C>G (p.His811Asp) c.3151C>G (p.His1051Asp) c.3301C>G (p.His1101Asp) c.3274C>G (p.His1092Asp) | |
7 | g.150945394G= | CA1752425622 | KCNH2 | n.4284C= c.3451C= (p.His1151=) c.2431C= (p.His811=) c.3151C= (p.His1051=) c.3301C= (p.His1101=) c.3274C= (p.His1092=) | |
7 | g.150945394G>T | CA369851394 | KCNH2 | n.4284C>A c.3451C>A (p.His1151Asn) c.2431C>A (p.His811Asn) c.3151C>A (p.His1051Asn) c.3301C>A (p.His1101Asn) c.3274C>A (p.His1092Asn) | gnomAD v4 |
7 | g.150945395C>A | CA458644518 | KCNH2 | n.4283G>T c.3450G>T (p.Leu1150=) c.2430G>T (p.Leu810=) c.3150G>T (p.Leu1050=) c.3300G>T (p.Leu1100=) c.3273G>T (p.Leu1091=) | gnomAD v4 |
7 | g.150945395C>G | CA458644516 | KCNH2 | n.4283G>C c.3450G>C (p.Leu1150=) c.2430G>C (p.Leu810=) c.3150G>C (p.Leu1050=) c.3300G>C (p.Leu1100=) c.3273G>C (p.Leu1091=) | |
7 | g.150945395C>T | CA458644517 | KCNH2 | n.4283G>A c.3450G>A (p.Leu1150=) c.2430G>A (p.Leu810=) c.3150G>A (p.Leu1050=) c.3300G>A (p.Leu1100=) c.3273G>A (p.Leu1091=) | gnomAD v4 |
7 | g.150945396A= | CA1752425628 | KCNH2 | n.4282T= c.3449T= (p.Leu1150=) c.2429T= (p.Leu810=) c.3149T= (p.Leu1050=) c.3299T= (p.Leu1100=) c.3272T= (p.Leu1091=) | |
7 | g.150945396A>C | CA369851396 | KCNH2 | n.4282T>G c.3449T>G (p.Leu1150Arg) c.2429T>G (p.Leu810Arg) c.3149T>G (p.Leu1050Arg) c.3299T>G (p.Leu1100Arg) c.3272T>G (p.Leu1091Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150945396A>G | CA369851397 | KCNH2 | n.4282T>C c.3449T>C (p.Leu1150Pro) c.2429T>C (p.Leu810Pro) c.3149T>C (p.Leu1050Pro) c.3299T>C (p.Leu1100Pro) c.3272T>C (p.Leu1091Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945396A>T | CA369851398 | KCNH2 | n.4282T>A c.3449T>A (p.Leu1150Gln) c.2429T>A (p.Leu810Gln) c.3149T>A (p.Leu1050Gln) c.3299T>A (p.Leu1100Gln) c.3272T>A (p.Leu1091Gln) | gnomAD v4 |
7 | g.150945397G>A | CA458644519 | KCNH2 | n.4281C>T c.3448C>T (p.Leu1150=) c.2428C>T (p.Leu810=) c.3148C>T (p.Leu1050=) c.3298C>T (p.Leu1100=) c.3271C>T (p.Leu1091=) | gnomAD v4 |
7 | g.150945397G>C | CA369851399 | KCNH2 | n.4281C>G c.3448C>G (p.Leu1150Val) c.2428C>G (p.Leu810Val) c.3148C>G (p.Leu1050Val) c.3298C>G (p.Leu1100Val) c.3271C>G (p.Leu1091Val) | |
7 | g.150945397G= | CA1752425632 | KCNH2 | n.4281C= c.3448C= (p.Leu1150=) c.2428C= (p.Leu810=) c.3148C= (p.Leu1050=) c.3298C= (p.Leu1100=) c.3271C= (p.Leu1091=) | |
7 | g.150945397G>T | CA039050 | KCNH2 | n.4281C>A c.3448C>A (p.Leu1150Met) c.2428C>A (p.Leu810Met) c.3148C>A (p.Leu1050Met) c.3298C>A (p.Leu1100Met) c.3271C>A (p.Leu1091Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945398G>A | CA458644520 | KCNH2 | n.4280C>T c.3447C>T (p.Pro1149=) c.2427C>T (p.Pro809=) c.3147C>T (p.Pro1049=) c.3297C>T (p.Pro1099=) c.3270C>T (p.Pro1090=) | dbSNP gnomAD v2 |
7 | g.150945398G>C | CA169070331 | KCNH2 | n.4280C>G c.3447C>G (p.Pro1149=) c.2427C>G (p.Pro809=) c.3147C>G (p.Pro1049=) c.3297C>G (p.Pro1099=) c.3270C>G (p.Pro1090=) | ClinVar dbSNP gnomAD v4 |
7 | g.150945398G= | CA1752425633 | KCNH2 | n.4280C= c.3447C= (p.Pro1149=) c.2427C= (p.Pro809=) c.3147C= (p.Pro1049=) c.3297C= (p.Pro1099=) c.3270C= (p.Pro1090=) | |
7 | g.150945398G>T | CA458644521 | KCNH2 | n.4280C>A c.3447C>A (p.Pro1149=) c.2427C>A (p.Pro809=) c.3147C>A (p.Pro1049=) c.3297C>A (p.Pro1099=) c.3270C>A (p.Pro1090=) | |
7 | g.150945399G>A | CA369851402 | KCNH2 | n.4279C>T c.3446C>T (p.Pro1149Leu) c.2426C>T (p.Pro809Leu) c.3146C>T (p.Pro1049Leu) c.3296C>T (p.Pro1099Leu) c.3269C>T (p.Pro1090Leu) | |
7 | g.150945399G>C | CA369851400 | KCNH2 | n.4279C>G c.3446C>G (p.Pro1149Arg) c.2426C>G (p.Pro809Arg) c.3146C>G (p.Pro1049Arg) c.3296C>G (p.Pro1099Arg) c.3269C>G (p.Pro1090Arg) | gnomAD v4 |
7 | g.150945399G>T | CA369851401 | KCNH2 | n.4279C>A c.3446C>A (p.Pro1149His) c.2426C>A (p.Pro809His) c.3146C>A (p.Pro1049His) c.3296C>A (p.Pro1099His) c.3269C>A (p.Pro1090His) | gnomAD v4 |
7 | g.150945400G>A | CA369851403 | KCNH2 | n.4278C>T c.3445C>T (p.Pro1149Ser) c.2425C>T (p.Pro809Ser) c.3145C>T (p.Pro1049Ser) c.3295C>T (p.Pro1099Ser) c.3268C>T (p.Pro1090Ser) | ClinVar gnomAD v4 |
7 | g.150945400G>C | CA369851404 | KCNH2 | n.4278C>G c.3445C>G (p.Pro1149Ala) c.2425C>G (p.Pro809Ala) c.3145C>G (p.Pro1049Ala) c.3295C>G (p.Pro1099Ala) c.3268C>G (p.Pro1090Ala) | |
7 | g.150945400G>T | CA369851405 | KCNH2 | n.4278C>A c.3445C>A (p.Pro1149Thr) c.2425C>A (p.Pro809Thr) c.3145C>A (p.Pro1049Thr) c.3295C>A (p.Pro1099Thr) c.3268C>A (p.Pro1090Thr) | gnomAD v4 |
7 | g.150945401C>A | CA369851406 | KCNH2 | n.4277G>T c.3444G>T (p.Gln1148His) c.2424G>T (p.Gln808His) c.3144G>T (p.Gln1048His) c.3294G>T (p.Gln1098His) c.3267G>T (p.Gln1089His) | gnomAD v4 |
7 | g.150945401C>G | CA369851407 | KCNH2 | n.4277G>C c.3444G>C (p.Gln1148His) c.2424G>C (p.Gln808His) c.3144G>C (p.Gln1048His) c.3294G>C (p.Gln1098His) c.3267G>C (p.Gln1089His) | |
7 | g.150945401C>T | CA458644522 | KCNH2 | n.4277G>A c.3444G>A (p.Gln1148=) c.2424G>A (p.Gln808=) c.3144G>A (p.Gln1048=) c.3294G>A (p.Gln1098=) c.3267G>A (p.Gln1089=) | gnomAD v4 |
7 | g.150945402T>A | CA369851410 | KCNH2 | n.4276A>T c.3443A>T (p.Gln1148Leu) c.2423A>T (p.Gln808Leu) c.3143A>T (p.Gln1048Leu) c.3293A>T (p.Gln1098Leu) c.3266A>T (p.Gln1089Leu) | |
7 | g.150945402T>C | CA369851408 | KCNH2 | n.4276A>G c.3443A>G (p.Gln1148Arg) c.2423A>G (p.Gln808Arg) c.3143A>G (p.Gln1048Arg) c.3293A>G (p.Gln1098Arg) c.3266A>G (p.Gln1089Arg) | gnomAD v4 |
7 | g.150945402T>G | CA369851409 | KCNH2 | n.4276A>C c.3443A>C (p.Gln1148Pro) c.2423A>C (p.Gln808Pro) c.3143A>C (p.Gln1048Pro) c.3293A>C (p.Gln1098Pro) c.3266A>C (p.Gln1089Pro) | |
7 | g.150945403G>A | CA369851411 | KCNH2 | n.4275C>T c.3442C>T (p.Gln1148Ter) c.2422C>T (p.Gln808Ter) c.3142C>T (p.Gln1048Ter) c.3292C>T (p.Gln1098Ter) c.3265C>T (p.Gln1089Ter) | gnomAD v4 |
7 | g.150945403G>C | CA369851412 | KCNH2 | n.4275C>G c.3442C>G (p.Gln1148Glu) c.2422C>G (p.Gln808Glu) c.3142C>G (p.Gln1048Glu) c.3292C>G (p.Gln1098Glu) c.3265C>G (p.Gln1089Glu) | |
7 | g.150945403G>T | CA369851413 | KCNH2 | n.4275C>A c.3442C>A (p.Gln1148Lys) c.2422C>A (p.Gln808Lys) c.3142C>A (p.Gln1048Lys) c.3292C>A (p.Gln1098Lys) c.3265C>A (p.Gln1089Lys) | gnomAD v4 |
7 | g.150945404G>A | CA458644523 | KCNH2 | n.4274C>T c.3441C>T (p.Ser1147=) c.2421C>T (p.Ser807=) c.3141C>T (p.Ser1047=) c.3291C>T (p.Ser1097=) c.3264C>T (p.Ser1088=) | |
7 | g.150945404G>C | CA458644524 | KCNH2 | n.4274C>G c.3441C>G (p.Ser1147=) c.2421C>G (p.Ser807=) c.3141C>G (p.Ser1047=) c.3291C>G (p.Ser1097=) c.3264C>G (p.Ser1088=) | |
7 | g.150945404G>T | CA458644525 | KCNH2 | n.4274C>A c.3441C>A (p.Ser1147=) c.2421C>A (p.Ser807=) c.3141C>A (p.Ser1047=) c.3291C>A (p.Ser1097=) c.3264C>A (p.Ser1088=) | |
7 | g.150945405G>A | CA369851414 | KCNH2 | n.4273C>T c.3440C>T (p.Ser1147Phe) c.2420C>T (p.Ser807Phe) c.3140C>T (p.Ser1047Phe) c.3290C>T (p.Ser1097Phe) c.3263C>T (p.Ser1088Phe) | |
7 | g.150945405G>C | CA369851415 | KCNH2 | n.4273C>G c.3440C>G (p.Ser1147Cys) c.2420C>G (p.Ser807Cys) c.3140C>G (p.Ser1047Cys) c.3290C>G (p.Ser1097Cys) c.3263C>G (p.Ser1088Cys) | ClinVar |
7 | g.150945405G>T | CA369851416 | KCNH2 | n.4273C>A c.3440C>A (p.Ser1147Tyr) c.2420C>A (p.Ser807Tyr) c.3140C>A (p.Ser1047Tyr) c.3290C>A (p.Ser1097Tyr) c.3263C>A (p.Ser1088Tyr) | |
7 | g.150945406A>C | CA369851417 | KCNH2 | n.4272T>G c.3439T>G (p.Ser1147Ala) c.2419T>G (p.Ser807Ala) c.3139T>G (p.Ser1047Ala) c.3289T>G (p.Ser1097Ala) c.3262T>G (p.Ser1088Ala) | |
7 | g.150945406A>G | CA369851418 | KCNH2 | n.4272T>C c.3439T>C (p.Ser1147Pro) c.2419T>C (p.Ser807Pro) c.3139T>C (p.Ser1047Pro) c.3289T>C (p.Ser1097Pro) c.3262T>C (p.Ser1088Pro) | gnomAD v4 |
7 | g.150945406A>T | CA369851419 | KCNH2 | n.4272T>A c.3439T>A (p.Ser1147Thr) c.2419T>A (p.Ser807Thr) c.3139T>A (p.Ser1047Thr) c.3289T>A (p.Ser1097Thr) c.3262T>A (p.Ser1088Thr) | |
7 | g.150945407G>A | CA458644526 | KCNH2 | n.4271C>T c.3438C>T (p.Thr1146=) c.2418C>T (p.Thr806=) c.3138C>T (p.Thr1046=) c.3288C>T (p.Thr1096=) c.3261C>T (p.Thr1087=) | dbSNP gnomAD v4 |
7 | g.150945407G>C | CA458644527 | KCNH2 | n.4271C>G c.3438C>G (p.Thr1146=) c.2418C>G (p.Thr806=) c.3138C>G (p.Thr1046=) c.3288C>G (p.Thr1096=) c.3261C>G (p.Thr1087=) | |
7 | g.150945407G= | CA1752425634 | KCNH2 | n.4271C= c.3438C= (p.Thr1146=) c.2418C= (p.Thr806=) c.3138C= (p.Thr1046=) c.3288C= (p.Thr1096=) c.3261C= (p.Thr1087=) | |
7 | g.150945407G>T | CA458644528 | KCNH2 | n.4271C>A c.3438C>A (p.Thr1146=) c.2418C>A (p.Thr806=) c.3138C>A (p.Thr1046=) c.3288C>A (p.Thr1096=) c.3261C>A (p.Thr1087=) | gnomAD v4 |
7 | g.150945408G>A | CA369851420 | KCNH2 | n.4270C>T c.3437C>T (p.Thr1146Ile) c.2417C>T (p.Thr806Ile) c.3137C>T (p.Thr1046Ile) c.3287C>T (p.Thr1096Ile) c.3260C>T (p.Thr1087Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945408G>C | CA369851421 | KCNH2 | n.4270C>G c.3437C>G (p.Thr1146Ser) c.2417C>G (p.Thr806Ser) c.3137C>G (p.Thr1046Ser) c.3287C>G (p.Thr1096Ser) c.3260C>G (p.Thr1087Ser) | |
7 | g.150945408G= | CA1752425635 | KCNH2 | n.4270C= c.3437C= (p.Thr1146=) c.2417C= (p.Thr806=) c.3137C= (p.Thr1046=) c.3287C= (p.Thr1096=) c.3260C= (p.Thr1087=) | |
7 | g.150945408G>T | CA369851422 | KCNH2 | n.4270C>A c.3437C>A (p.Thr1146Asn) c.2417C>A (p.Thr806Asn) c.3137C>A (p.Thr1046Asn) c.3287C>A (p.Thr1096Asn) c.3260C>A (p.Thr1087Asn) | gnomAD v4 |
7 | g.150945409T>A | CA039013 | KCNH2 | n.4269A>T c.3436A>T (p.Thr1146Ser) c.2416A>T (p.Thr806Ser) c.3136A>T (p.Thr1046Ser) c.3286A>T (p.Thr1096Ser) c.3259A>T (p.Thr1087Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150945409T>C | CA369851424 | KCNH2 | n.4269A>G c.3436A>G (p.Thr1146Ala) c.2416A>G (p.Thr806Ala) c.3136A>G (p.Thr1046Ala) c.3286A>G (p.Thr1096Ala) c.3259A>G (p.Thr1087Ala) | dbSNP gnomAD v2 |
7 | g.150945409T>G | CA369851423 | KCNH2 | n.4269A>C c.3436A>C (p.Thr1146Pro) c.2416A>C (p.Thr806Pro) c.3136A>C (p.Thr1046Pro) c.3286A>C (p.Thr1096Pro) c.3259A>C (p.Thr1087Pro) | dbSNP |
7 | g.150945409T= | CA1752425638 | KCNH2 | n.4269A= c.3436A= (p.Thr1146=) c.2416A= (p.Thr806=) c.3136A= (p.Thr1046=) c.3286A= (p.Thr1096=) c.3259A= (p.Thr1087=) | |
7 | g.150945410G>A | CA458644529 | KCNH2 | n.4268C>T c.3435C>T (p.Leu1145=) c.2415C>T (p.Leu805=) c.3135C>T (p.Leu1045=) c.3285C>T (p.Leu1095=) c.3258C>T (p.Leu1086=) | dbSNP gnomAD v4 |
7 | g.150945410G>C | CA458644530 | KCNH2 | n.4268C>G c.3435C>G (p.Leu1145=) c.2415C>G (p.Leu805=) c.3135C>G (p.Leu1045=) c.3285C>G (p.Leu1095=) c.3258C>G (p.Leu1086=) | |
7 | g.150945410G= | CA1752425643 | KCNH2 | n.4268C= c.3435C= (p.Leu1145=) c.2415C= (p.Leu805=) c.3135C= (p.Leu1045=) c.3285C= (p.Leu1095=) c.3258C= (p.Leu1086=) | |
7 | g.150945410G>T | CA458644531 | KCNH2 | n.4268C>A c.3435C>A (p.Leu1145=) c.2415C>A (p.Leu805=) c.3135C>A (p.Leu1045=) c.3285C>A (p.Leu1095=) c.3258C>A (p.Leu1086=) | gnomAD v4 |
7 | g.150945411A>C | CA369851425 | KCNH2 | n.4267T>G c.3434T>G (p.Leu1145Arg) c.2414T>G (p.Leu805Arg) c.3134T>G (p.Leu1045Arg) c.3284T>G (p.Leu1095Arg) c.3257T>G (p.Leu1086Arg) | |
7 | g.150945411A>G | CA369851427 | KCNH2 | n.4267T>C c.3434T>C (p.Leu1145Pro) c.2414T>C (p.Leu805Pro) c.3134T>C (p.Leu1045Pro) c.3284T>C (p.Leu1095Pro) c.3257T>C (p.Leu1086Pro) | gnomAD v4 |
7 | g.150945411A>T | CA369851426 | KCNH2 | n.4267T>A c.3434T>A (p.Leu1145His) c.2414T>A (p.Leu805His) c.3134T>A (p.Leu1045His) c.3284T>A (p.Leu1095His) c.3257T>A (p.Leu1086His) | |
7 | g.150945412G>A | CA369851428 | KCNH2 | n.4266C>T c.3433C>T (p.Leu1145Phe) c.2413C>T (p.Leu805Phe) c.3133C>T (p.Leu1045Phe) c.3283C>T (p.Leu1095Phe) c.3256C>T (p.Leu1086Phe) | |
7 | g.150945412G>C | CA369851429 | KCNH2 | n.4266C>G c.3433C>G (p.Leu1145Val) c.2413C>G (p.Leu805Val) c.3133C>G (p.Leu1045Val) c.3283C>G (p.Leu1095Val) c.3256C>G (p.Leu1086Val) | ClinVar |
7 | g.150945412G>T | CA369851430 | KCNH2 | n.4266C>A c.3433C>A (p.Leu1145Ile) c.2413C>A (p.Leu805Ile) c.3133C>A (p.Leu1045Ile) c.3283C>A (p.Leu1095Ile) c.3256C>A (p.Leu1086Ile) | gnomAD v4 |