Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150958053_150958148delCA2580077681KCNH2n.1665_1749+11del
c.832_916+11del
c.484_568+11del
n.1055_1139+11del
c.532_616+11del
c.682_766+11del
c.655_739+11del
ClinVar
7g.150958091_150958151delCA2685607217KCNH2n.1662_1722del
c.829_889del (p.Ala277ProfsTer?)
c.481_541del (p.Ala161ProfsTer?)
n.1052_1112del
c.529_589del (p.Ala177ProfsTer?)
c.679_739del (p.Ala227ProfsTer?)
c.652_712del (p.Ala218ProfsTer?)
gnomAD v4
7g.150958106_150958125delinsGCCTCGATGTCGTCGGCCGACA1752417828KCNH2n.1683_1702delinsTCGGCCGACGACATCGAGGC
c.850_869delinsTCGGCCGACGACATCGAGGC (p.Ser284=)
c.502_521delinsTCGGCCGACGACATCGAGGC (p.Ser168=)
n.1073_1092delinsTCGGCCGACGACATCGAGGC
c.550_569delinsTCGGCCGACGACATCGAGGC (p.Ser184=)
c.700_719delinsTCGGCCGACGACATCGAGGC (p.Ser234=)
c.673_692delinsTCGGCCGACGACATCGAGGC (p.Ser225=)
7g.150958108_150958126delCA008896KCNH2n.1683_1701del
c.850_868del (p.Ser284ProfsTer?)
c.502_520del (p.Ser168ProfsTer?)
n.1073_1091del
c.550_568del (p.Ser184ProfsTer?)
c.700_718del (p.Ser234ProfsTer?)
c.673_691del (p.Ser225ProfsTer?)
ClinVar dbSNP
7g.150958113_150958128delCA2579988140KCNH2n.1683_1698del
c.850_865del (p.Ser284ArgfsTer?)
c.502_517del (p.Ser168ArgfsTer?)
n.1073_1088del
c.550_565del (p.Ser184ArgfsTer?)
c.700_715del (p.Ser234ArgfsTer?)
c.673_688del (p.Ser225ArgfsTer?)
7g.150958115_150958122delinsTCGTCGGCCA1752417868KCNH2n.1686_1693delinsGCCGACGA
c.853_860delinsGCCGACGA (p.Ala285=)
c.505_512delinsGCCGACGA (p.Ala169=)
n.1076_1083delinsGCCGACGA
c.553_560delinsGCCGACGA (p.Ala185=)
c.703_710delinsGCCGACGA (p.Ala235=)
c.676_683delinsGCCGACGA (p.Ala226=)
7g.150958118_150958124dupCA2695208631KCNH2n.1686_1692dup
c.853_859dup (p.Asp287GlyfsTer?)
c.505_511dup (p.Asp171GlyfsTer?)
n.1076_1082dup
c.553_559dup (p.Asp187GlyfsTer?)
c.703_709dup (p.Asp237GlyfsTer?)
c.676_682dup (p.Asp228GlyfsTer?)
7g.150958118_150958124delCA008902KCNH2n.1686_1692del
c.853_859del (p.Ala285ThrfsTer?)
c.505_511del (p.Ala169ThrfsTer?)
n.1076_1082del
c.553_559del (p.Ala185ThrfsTer?)
c.703_709del (p.Ala235ThrfsTer?)
c.676_682del (p.Ala226ThrfsTer?)
ClinVar dbSNP
7g.150958121G>ACA169081199KCNH2n.1687C>T
c.854C>T (p.Ala285Val)
c.506C>T (p.Ala169Val)
n.1077C>T
c.554C>T (p.Ala185Val)
c.704C>T (p.Ala235Val)
c.677C>T (p.Ala226Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958121G>CCA369862267KCNH2n.1687C>G
c.854C>G (p.Ala285Gly)
c.506C>G (p.Ala169Gly)
n.1077C>G
c.554C>G (p.Ala185Gly)
c.704C>G (p.Ala235Gly)
c.677C>G (p.Ala226Gly)
gnomAD v4
7g.150958121G=CA1752417882KCNH2n.1687C=
c.854C= (p.Ala285=)
c.506C= (p.Ala169=)
n.1077C=
c.554C= (p.Ala185=)
c.704C= (p.Ala235=)
c.677C= (p.Ala226=)
7g.150958121G>TCA369862268KCNH2n.1687C>A
c.854C>A (p.Ala285Asp)
c.506C>A (p.Ala169Asp)
n.1077C>A
c.554C>A (p.Ala185Asp)
c.704C>A (p.Ala235Asp)
c.677C>A (p.Ala226Asp)
gnomAD v4
7g.150958122_150958124delCA2685607370KCNH2n.1685_1687del
c.852_854del (p.Ala285del)
c.504_506del (p.Ala169del)
n.1075_1077del
c.552_554del (p.Ala185del)
c.702_704del (p.Ala235del)
c.675_677del (p.Ala226del)
gnomAD v4
7g.150958121_150958206delinsACGCCTCGGGCTCCA2697549692KCNH2n.1602_1687delinsGAGCCCGAGGCGT
c.769_854delinsGAGCCCGAGGCGT (p.Asn257GlufsTer?)
c.421_506delinsGAGCCCGAGGCGT (p.Asn141GlufsTer?)
n.992_1077delinsGAGCCCGAGGCGT
c.469_554delinsGAGCCCGAGGCGT (p.Asn157GlufsTer?)
c.619_704delinsGAGCCCGAGGCGT (p.Asn207GlufsTer?)
c.592_677delinsGAGCCCGAGGCGT (p.Asn198GlufsTer?)
ClinVar
7g.150958122C>ACA10628484KCNH2n.1686G>T
c.853G>T (p.Ala285Ser)
c.505G>T (p.Ala169Ser)
n.1076G>T
c.553G>T (p.Ala185Ser)
c.703G>T (p.Ala235Ser)
c.676G>T (p.Ala226Ser)
ClinVar dbSNP gnomAD v4
7g.150958122C=CA1752417887KCNH2n.1686G=
c.853G= (p.Ala285=)
c.505G= (p.Ala169=)
n.1076G=
c.553G= (p.Ala185=)
c.703G= (p.Ala235=)
c.676G= (p.Ala226=)
7g.150958122C>GCA369862269KCNH2n.1686G>C
c.853G>C (p.Ala285Pro)
c.505G>C (p.Ala169Pro)
n.1076G>C
c.553G>C (p.Ala185Pro)
c.703G>C (p.Ala235Pro)
c.676G>C (p.Ala226Pro)
gnomAD v4
7g.150958122C>TCA350810KCNH2n.1686G>A
c.853G>A (p.Ala285Thr)
c.505G>A (p.Ala169Thr)
n.1076G>A
c.553G>A (p.Ala185Thr)
c.703G>A (p.Ala235Thr)
c.676G>A (p.Ala226Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958123C>ACA458871854KCNH2n.1685G>T
c.852G>T (p.Ser284=)
c.504G>T (p.Ser168=)
n.1075G>T
c.552G>T (p.Ser184=)
c.702G>T (p.Ser234=)
c.675G>T (p.Ser225=)
gnomAD v4
7g.150958123C>GCA458871853KCNH2n.1685G>C
c.852G>C (p.Ser284=)
c.504G>C (p.Ser168=)
n.1075G>C
c.552G>C (p.Ser184=)
c.702G>C (p.Ser234=)
c.675G>C (p.Ser225=)
7g.150958123C>TCA458871850KCNH2n.1685G>A
c.852G>A (p.Ser284=)
c.504G>A (p.Ser168=)
n.1075G>A
c.552G>A (p.Ser184=)
c.702G>A (p.Ser234=)
c.675G>A (p.Ser225=)
gnomAD v4
7g.150958124G>ACA369862272KCNH2n.1684C>T
c.851C>T (p.Ser284Leu)
c.503C>T (p.Ser168Leu)
n.1074C>T
c.551C>T (p.Ser184Leu)
c.701C>T (p.Ser234Leu)
c.674C>T (p.Ser225Leu)
dbSNP gnomAD v4
7g.150958124G>CCA369862271KCNH2n.1684C>G
c.851C>G (p.Ser284Trp)
c.503C>G (p.Ser168Trp)
n.1074C>G
c.551C>G (p.Ser184Trp)
c.701C>G (p.Ser234Trp)
c.674C>G (p.Ser225Trp)
7g.150958124G>TCA369862270KCNH2n.1684C>A
c.851C>A (p.Ser284Ter)
c.503C>A (p.Ser168Ter)
n.1074C>A
c.551C>A (p.Ser184Ter)
c.701C>A (p.Ser234Ter)
c.674C>A (p.Ser225Ter)
gnomAD v4
7g.150958125A>CCA369862273KCNH2n.1683T>G
c.850T>G (p.Ser284Ala)
c.502T>G (p.Ser168Ala)
n.1073T>G
c.550T>G (p.Ser184Ala)
c.700T>G (p.Ser234Ala)
c.673T>G (p.Ser225Ala)
gnomAD v4
7g.150958125A>GCA369862274KCNH2n.1683T>C
c.850T>C (p.Ser284Pro)
c.502T>C (p.Ser168Pro)
n.1073T>C
c.550T>C (p.Ser184Pro)
c.700T>C (p.Ser234Pro)
c.673T>C (p.Ser225Pro)
gnomAD v4
7g.150958125A>TCA369862275KCNH2n.1683T>A
c.850T>A (p.Ser284Thr)
c.502T>A (p.Ser168Thr)
n.1073T>A
c.550T>A (p.Ser184Thr)
c.700T>A (p.Ser234Thr)
c.673T>A (p.Ser225Thr)
7g.150958126C>ACA458871857KCNH2n.1682G>T
c.849G>T (p.Ser283=)
c.501G>T (p.Ser167=)
n.1072G>T
c.549G>T (p.Ser183=)
c.699G>T (p.Ser233=)
c.672G>T (p.Ser224=)
gnomAD v4
7g.150958126C=CA1752417895KCNH2n.1682G=
c.849G= (p.Ser283=)
c.501G= (p.Ser167=)
n.1072G=
c.549G= (p.Ser183=)
c.699G= (p.Ser233=)
c.672G= (p.Ser224=)
7g.150958126C>GCA458871859KCNH2n.1682G>C
c.849G>C (p.Ser283=)
c.501G>C (p.Ser167=)
n.1072G>C
c.549G>C (p.Ser183=)
c.699G>C (p.Ser233=)
c.672G>C (p.Ser224=)
ClinVar dbSNP gnomAD v4
7g.150958126C>TCA458871858KCNH2n.1682G>A
c.849G>A (p.Ser283=)
c.501G>A (p.Ser167=)
n.1072G>A
c.549G>A (p.Ser183=)
c.699G>A (p.Ser233=)
c.672G>A (p.Ser224=)
dbSNP gnomAD v4
7g.150958127G>ACA369862276KCNH2n.1681C>T
c.848C>T (p.Ser283Leu)
c.500C>T (p.Ser167Leu)
n.1071C>T
c.548C>T (p.Ser183Leu)
c.698C>T (p.Ser233Leu)
c.671C>T (p.Ser224Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958127G>CCA369862277KCNH2n.1681C>G
c.848C>G (p.Ser283Trp)
c.500C>G (p.Ser167Trp)
n.1071C>G
c.548C>G (p.Ser183Trp)
c.698C>G (p.Ser233Trp)
c.671C>G (p.Ser224Trp)
7g.150958127G=CA1752417896KCNH2n.1681C=
c.848C= (p.Ser283=)
c.500C= (p.Ser167=)
n.1071C=
c.548C= (p.Ser183=)
c.698C= (p.Ser233=)
c.671C= (p.Ser224=)
7g.150958127G>TCA369862278KCNH2n.1681C>A
c.848C>A (p.Ser283Ter)
c.500C>A (p.Ser167Ter)
n.1071C>A
c.548C>A (p.Ser183Ter)
c.698C>A (p.Ser233Ter)
c.671C>A (p.Ser224Ter)
gnomAD v4
7g.150958128_150958129delCA2778425855KCNH2n.1680_1681del
c.847_848del (p.Ser283ValfsTer?)
c.499_500del (p.Ser167ValfsTer?)
n.1070_1071del
c.547_548del (p.Ser183ValfsTer?)
c.697_698del (p.Ser233ValfsTer?)
c.670_671del (p.Ser224ValfsTer?)
7g.150958128A>CCA369862279KCNH2n.1680T>G
c.847T>G (p.Ser283Ala)
c.499T>G (p.Ser167Ala)
n.1070T>G
c.547T>G (p.Ser183Ala)
c.697T>G (p.Ser233Ala)
c.670T>G (p.Ser224Ala)
7g.150958128A>GCA369862280KCNH2n.1680T>C
c.847T>C (p.Ser283Pro)
c.499T>C (p.Ser167Pro)
n.1070T>C
c.547T>C (p.Ser183Pro)
c.697T>C (p.Ser233Pro)
c.670T>C (p.Ser224Pro)
gnomAD v4
7g.150958128A>TCA369862281KCNH2n.1680T>A
c.847T>A (p.Ser283Thr)
c.499T>A (p.Ser167Thr)
n.1070T>A
c.547T>A (p.Ser183Thr)
c.697T>A (p.Ser233Thr)
c.670T>A (p.Ser224Thr)
gnomAD v4
7g.150958129G>ACA458871863KCNH2n.1679C>T
c.846C>T (p.Ala282=)
c.498C>T (p.Ala166=)
n.1069C>T
c.546C>T (p.Ala182=)
c.696C>T (p.Ala232=)
c.669C>T (p.Ala223=)
dbSNP gnomAD v4
7g.150958129G>CCA458871864KCNH2n.1679C>G
c.846C>G (p.Ala282=)
c.498C>G (p.Ala166=)
n.1069C>G
c.546C>G (p.Ala182=)
c.696C>G (p.Ala232=)
c.669C>G (p.Ala223=)
7g.150958129G>TCA458871865KCNH2n.1679C>A
c.846C>A (p.Ala282=)
c.498C>A (p.Ala166=)
n.1069C>A
c.546C>A (p.Ala182=)
c.696C>A (p.Ala232=)
c.669C>A (p.Ala223=)
gnomAD v4
7g.150958130G>ACA369862282KCNH2n.1678C>T
c.845C>T (p.Ala282Val)
c.497C>T (p.Ala166Val)
n.1068C>T
c.545C>T (p.Ala182Val)
c.695C>T (p.Ala232Val)
c.668C>T (p.Ala223Val)
ClinVar gnomAD v4
7g.150958130G>CCA369862283KCNH2n.1678C>G
c.845C>G (p.Ala282Gly)
c.497C>G (p.Ala166Gly)
n.1068C>G
c.545C>G (p.Ala182Gly)
c.695C>G (p.Ala232Gly)
c.668C>G (p.Ala223Gly)
gnomAD v4
7g.150958130G>TCA369862284KCNH2n.1678C>A
c.845C>A (p.Ala282Asp)
c.497C>A (p.Ala166Asp)
n.1068C>A
c.545C>A (p.Ala182Asp)
c.695C>A (p.Ala232Asp)
c.668C>A (p.Ala223Asp)
gnomAD v4
7g.150958133_150958134dupCA2695208632KCNH2n.1677_1678dup
c.844_845dup (p.Ser283ProfsTer?)
c.496_497dup (p.Ser167ProfsTer?)
n.1067_1068dup
c.544_545dup (p.Ser183ProfsTer?)
c.694_695dup (p.Ser233ProfsTer?)
c.667_668dup (p.Ser224ProfsTer?)
7g.150958133_150958134delCA2685607397KCNH2n.1677_1678del
c.844_845del (p.Ala282LeufsTer?)
c.496_497del (p.Ala166LeufsTer?)
n.1067_1068del
c.544_545del (p.Ala182LeufsTer?)
c.694_695del (p.Ala232LeufsTer?)
c.667_668del (p.Ala223LeufsTer?)
gnomAD v4
7g.150958131C>ACA369862286KCNH2n.1677G>T
c.844G>T (p.Ala282Ser)
c.496G>T (p.Ala166Ser)
n.1067G>T
c.544G>T (p.Ala182Ser)
c.694G>T (p.Ala232Ser)
c.667G>T (p.Ala223Ser)
gnomAD v4
7g.150958131C=CA1752417901KCNH2n.1677G=
c.844G= (p.Ala282=)
c.496G= (p.Ala166=)
n.1067G=
c.544G= (p.Ala182=)
c.694G= (p.Ala232=)
c.667G= (p.Ala223=)
7g.150958131C>GCA169081204KCNH2n.1677G>C
c.844G>C (p.Ala282Pro)
c.496G>C (p.Ala166Pro)
n.1067G>C
c.544G>C (p.Ala182Pro)
c.694G>C (p.Ala232Pro)
c.667G>C (p.Ala223Pro)
ClinVar dbSNP gnomAD v4
7g.150958131C>TCA369862285KCNH2n.1677G>A
c.844G>A (p.Ala282Thr)
c.496G>A (p.Ala166Thr)
n.1067G>A
c.544G>A (p.Ala182Thr)
c.694G>A (p.Ala232Thr)
c.667G>A (p.Ala223Thr)
gnomAD v4
7g.150958132G>ACA458871869KCNH2n.1676C>T
c.843C>T (p.Arg281=)
c.495C>T (p.Arg165=)
n.1066C>T
c.543C>T (p.Arg181=)
c.693C>T (p.Arg231=)
c.666C>T (p.Arg222=)
gnomAD v4
7g.150958132G>CCA458871870KCNH2n.1676C>G
c.843C>G (p.Arg281=)
c.495C>G (p.Arg165=)
n.1066C>G
c.543C>G (p.Arg181=)
c.693C>G (p.Arg231=)
c.666C>G (p.Arg222=)
7g.150958132G=CA1752417905KCNH2n.1676C=
c.843C= (p.Arg281=)
c.495C= (p.Arg165=)
n.1066C=
c.543C= (p.Arg181=)
c.693C= (p.Arg231=)
c.666C= (p.Arg222=)
7g.150958132G>TCA458871871KCNH2n.1676C>A
c.843C>A (p.Arg281=)
c.495C>A (p.Arg165=)
n.1066C>A
c.543C>A (p.Arg181=)
c.693C>A (p.Arg231=)
c.666C>A (p.Arg222=)
ClinVar gnomAD v4
7g.150958132dupCA169081213KCNH2n.1676dup
c.843dup (p.Ala282ArgfsTer?)
c.495dup (p.Ala166ArgfsTer?)
n.1066dup
c.543dup (p.Ala182ArgfsTer?)
c.693dup (p.Ala232ArgfsTer?)
c.666dup (p.Ala223ArgfsTer?)
dbSNP
7g.150958133C>ACA369862288KCNH2n.1675G>T
c.842G>T (p.Arg281Leu)
c.494G>T (p.Arg165Leu)
n.1065G>T
c.542G>T (p.Arg181Leu)
c.692G>T (p.Arg231Leu)
c.665G>T (p.Arg222Leu)
gnomAD v4
7g.150958133C=CA1752417912KCNH2n.1675G=
c.842G= (p.Arg281=)
c.494G= (p.Arg165=)
n.1065G=
c.542G= (p.Arg181=)
c.692G= (p.Arg231=)
c.665G= (p.Arg222=)
7g.150958133C>GCA369862289KCNH2n.1675G>C
c.842G>C (p.Arg281Pro)
c.494G>C (p.Arg165Pro)
n.1065G>C
c.542G>C (p.Arg181Pro)
c.692G>C (p.Arg231Pro)
c.665G>C (p.Arg222Pro)
7g.150958133C>TCA369862290KCNH2n.1675G>A
c.842G>A (p.Arg281His)
c.494G>A (p.Arg165His)
n.1065G>A
c.542G>A (p.Arg181His)
c.692G>A (p.Arg231His)
c.665G>A (p.Arg222His)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958133dupCA346385KCNH2n.1675dup
c.842dup (p.Ala282ArgfsTer?)
c.494dup (p.Ala166ArgfsTer?)
n.1065dup
c.542dup (p.Ala182ArgfsTer?)
c.692dup (p.Ala232ArgfsTer?)
c.665dup (p.Ala223ArgfsTer?)
ClinVar dbSNP
7g.150958134G>ACA072218KCNH2n.1674C>T
c.841C>T (p.Arg281Cys)
c.493C>T (p.Arg165Cys)
n.1064C>T
c.541C>T (p.Arg181Cys)
c.691C>T (p.Arg231Cys)
c.664C>T (p.Arg222Cys)
gnomAD v4
7g.150958134G>CCA369862292KCNH2n.1674C>G
c.841C>G (p.Arg281Gly)
c.493C>G (p.Arg165Gly)
n.1064C>G
c.541C>G (p.Arg181Gly)
c.691C>G (p.Arg231Gly)
c.664C>G (p.Arg222Gly)
7g.150958134G>TCA369862291KCNH2n.1674C>A
c.841C>A (p.Arg281Ser)
c.493C>A (p.Arg165Ser)
n.1064C>A
c.541C>A (p.Arg181Ser)
c.691C>A (p.Arg231Ser)
c.664C>A (p.Arg222Ser)
gnomAD v4
7g.150958135G>ACA458871882KCNH2n.1673C>T
c.840C>T (p.Arg280=)
c.492C>T (p.Arg164=)
n.1063C>T
c.540C>T (p.Arg180=)
c.690C>T (p.Arg230=)
c.663C>T (p.Arg221=)
gnomAD v4
7g.150958135G>CCA458871881KCNH2n.1673C>G
c.840C>G (p.Arg280=)
c.492C>G (p.Arg164=)
n.1063C>G
c.540C>G (p.Arg180=)
c.690C>G (p.Arg230=)
c.663C>G (p.Arg221=)
7g.150958135G>TCA458871878KCNH2n.1673C>A
c.840C>A (p.Arg280=)
c.492C>A (p.Arg164=)
n.1063C>A
c.540C>A (p.Arg180=)
c.690C>A (p.Arg230=)
c.663C>A (p.Arg221=)
gnomAD v4
7g.150958136C>ACA369862295KCNH2n.1672G>T
c.839G>T (p.Arg280Leu)
c.491G>T (p.Arg164Leu)
n.1062G>T
c.539G>T (p.Arg180Leu)
c.689G>T (p.Arg230Leu)
c.662G>T (p.Arg221Leu)
gnomAD v4
7g.150958136C>GCA369862296KCNH2n.1672G>C
c.839G>C (p.Arg280Pro)
c.491G>C (p.Arg164Pro)
n.1062G>C
c.539G>C (p.Arg180Pro)
c.689G>C (p.Arg230Pro)
c.662G>C (p.Arg221Pro)
gnomAD v4
7g.150958136C>TCA072212KCNH2n.1672G>A
c.839G>A (p.Arg280His)
c.491G>A (p.Arg164His)
n.1062G>A
c.539G>A (p.Arg180His)
c.689G>A (p.Arg230His)
c.662G>A (p.Arg221His)
gnomAD v4
7g.150958137G>ACA040708KCNH2n.1671C>T
c.838C>T (p.Arg280Cys)
c.490C>T (p.Arg164Cys)
n.1061C>T
c.538C>T (p.Arg180Cys)
c.688C>T (p.Arg230Cys)
c.661C>T (p.Arg221Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150958137G>CCA369862299KCNH2n.1671C>G
c.838C>G (p.Arg280Gly)
c.490C>G (p.Arg164Gly)
n.1061C>G
c.538C>G (p.Arg180Gly)
c.688C>G (p.Arg230Gly)
c.661C>G (p.Arg221Gly)
7g.150958137G=CA1752417917KCNH2n.1671C=
c.838C= (p.Arg280=)
c.490C= (p.Arg164=)
n.1061C=
c.538C= (p.Arg180=)
c.688C= (p.Arg230=)
c.661C= (p.Arg221=)
7g.150958137G>TCA369862301KCNH2n.1671C>A
c.838C>A (p.Arg280Ser)
c.490C>A (p.Arg164Ser)
n.1061C>A
c.538C>A (p.Arg180Ser)
c.688C>A (p.Arg230Ser)
c.661C>A (p.Arg221Ser)
gnomAD v4
7g.150958138delCA2685607433KCNH2n.1670del
c.837del (p.Arg280AlafsTer?)
c.489del (p.Arg164AlafsTer?)
n.1060del
c.537del (p.Arg180AlafsTer?)
c.687del (p.Arg230AlafsTer?)
c.660del (p.Arg221AlafsTer?)
gnomAD v4
7g.150958138C>ACA458871883KCNH2n.1670G>T
c.837G>T (p.Val279=)
c.489G>T (p.Val163=)
n.1060G>T
c.537G>T (p.Val179=)
c.687G>T (p.Val229=)
c.660G>T (p.Val220=)
gnomAD v4
7g.150958138C>GCA458871884KCNH2n.1670G>C
c.837G>C (p.Val279=)
c.489G>C (p.Val163=)
n.1060G>C
c.537G>C (p.Val179=)
c.687G>C (p.Val229=)
c.660G>C (p.Val220=)
gnomAD v4
7g.150958138C>TCA458871885KCNH2n.1670G>A
c.837G>A (p.Val279=)
c.489G>A (p.Val163=)
n.1060G>A
c.537G>A (p.Val179=)
c.687G>A (p.Val229=)
c.660G>A (p.Val220=)
gnomAD v4
7g.150958139A>CCA369862302KCNH2n.1669T>G
c.836T>G (p.Val279Gly)
c.488T>G (p.Val163Gly)
n.1059T>G
c.536T>G (p.Val179Gly)
c.686T>G (p.Val229Gly)
c.659T>G (p.Val220Gly)
ClinVar
7g.150958139A>GCA369862306KCNH2n.1669T>C
c.836T>C (p.Val279Ala)
c.488T>C (p.Val163Ala)
n.1059T>C
c.536T>C (p.Val179Ala)
c.686T>C (p.Val229Ala)
c.659T>C (p.Val220Ala)
gnomAD v4
7g.150958139A>TCA369862304KCNH2n.1669T>A
c.836T>A (p.Val279Glu)
c.488T>A (p.Val163Glu)
n.1059T>A
c.536T>A (p.Val179Glu)
c.686T>A (p.Val229Glu)
c.659T>A (p.Val220Glu)
7g.150958140delCA2739278347KCNH2n.1668del
c.835del (p.Val279CysfsTer?)
c.487del (p.Val163CysfsTer?)
n.1058del
c.535del (p.Val179CysfsTer?)
c.685del (p.Val229CysfsTer?)
c.658del (p.Val220CysfsTer?)
ClinVar
7g.150958140C>ACA369862308KCNH2n.1668G>T
c.835G>T (p.Val279Leu)
c.487G>T (p.Val163Leu)
n.1058G>T
c.535G>T (p.Val179Leu)
c.685G>T (p.Val229Leu)
c.658G>T (p.Val220Leu)
gnomAD v4
7g.150958140C=CA1752417929KCNH2n.1668G=
c.835G= (p.Val279=)
c.487G= (p.Val163=)
n.1058G=
c.535G= (p.Val179=)
c.685G= (p.Val229=)
c.658G= (p.Val220=)
7g.150958140C>GCA369862310KCNH2n.1668G>C
c.835G>C (p.Val279Leu)
c.487G>C (p.Val163Leu)
n.1058G>C
c.535G>C (p.Val179Leu)
c.685G>C (p.Val229Leu)
c.658G>C (p.Val220Leu)
7g.150958140C>TCA008886KCNH2n.1668G>A
c.835G>A (p.Val279Met)
c.487G>A (p.Val163Met)
n.1058G>A
c.535G>A (p.Val179Met)
c.685G>A (p.Val229Met)
c.658G>A (p.Val220Met)
ClinVar dbSNP gnomAD v4
7g.150958141G>ACA458871887KCNH2n.1667C>T
c.834C>T (p.Ser278=)
c.486C>T (p.Ser162=)
n.1057C>T
c.534C>T (p.Ser178=)
c.684C>T (p.Ser228=)
c.657C>T (p.Ser219=)
ClinVar dbSNP gnomAD v4
7g.150958141G>CCA369862312KCNH2n.1667C>G
c.834C>G (p.Ser278Arg)
c.486C>G (p.Ser162Arg)
n.1057C>G
c.534C>G (p.Ser178Arg)
c.684C>G (p.Ser228Arg)
c.657C>G (p.Ser219Arg)
7g.150958141G=CA1752417931KCNH2n.1667C=
c.834C= (p.Ser278=)
c.486C= (p.Ser162=)
n.1057C=
c.534C= (p.Ser178=)
c.684C= (p.Ser228=)
c.657C= (p.Ser219=)
7g.150958141G>TCA369862313KCNH2n.1667C>A
c.834C>A (p.Ser278Arg)
c.486C>A (p.Ser162Arg)
n.1057C>A
c.534C>A (p.Ser178Arg)
c.684C>A (p.Ser228Arg)
c.657C>A (p.Ser219Arg)
gnomAD v4
7g.150958142C>ACA369862315KCNH2n.1666G>T
c.833G>T (p.Ser278Ile)
c.485G>T (p.Ser162Ile)
n.1056G>T
c.533G>T (p.Ser178Ile)
c.683G>T (p.Ser228Ile)
c.656G>T (p.Ser219Ile)
gnomAD v4
7g.150958142C>GCA369862317KCNH2n.1666G>C
c.833G>C (p.Ser278Thr)
c.485G>C (p.Ser162Thr)
n.1056G>C
c.533G>C (p.Ser178Thr)
c.683G>C (p.Ser228Thr)
c.656G>C (p.Ser219Thr)
7g.150958142C>TCA369862318KCNH2n.1666G>A
c.833G>A (p.Ser278Asn)
c.485G>A (p.Ser162Asn)
n.1056G>A
c.533G>A (p.Ser178Asn)
c.683G>A (p.Ser228Asn)
c.656G>A (p.Ser219Asn)
gnomAD v4
7g.150958143T>ACA369862320KCNH2n.1665A>T
c.832A>T (p.Ser278Cys)
c.484A>T (p.Ser162Cys)
n.1055A>T
c.532A>T (p.Ser178Cys)
c.682A>T (p.Ser228Cys)
c.655A>T (p.Ser219Cys)
ClinVar dbSNP gnomAD v4
7g.150958143T>CCA369862321KCNH2n.1665A>G
c.832A>G (p.Ser278Gly)
c.484A>G (p.Ser162Gly)
n.1055A>G
c.532A>G (p.Ser178Gly)
c.682A>G (p.Ser228Gly)
c.655A>G (p.Ser219Gly)
gnomAD v4
7g.150958143T>GCA369862323KCNH2n.1665A>C
c.832A>C (p.Ser278Arg)
c.484A>C (p.Ser162Arg)
n.1055A>C
c.532A>C (p.Ser178Arg)
c.682A>C (p.Ser228Arg)
c.655A>C (p.Ser219Arg)
7g.150958143T=CA1752417933KCNH2n.1665A=
c.832A= (p.Ser278=)
c.484A= (p.Ser162=)
n.1055A=
c.532A= (p.Ser178=)
c.682A= (p.Ser228=)
c.655A= (p.Ser219=)
7g.150958144G>ACA458871892KCNH2n.1664C>T
c.831C>T (p.Ala277=)
c.483C>T (p.Ala161=)
n.1054C>T
c.531C>T (p.Ala177=)
c.681C>T (p.Ala227=)
c.654C>T (p.Ala218=)
dbSNP gnomAD v2 gnomAD v4
7g.150958144G>CCA458871893KCNH2n.1664C>G
c.831C>G (p.Ala277=)
c.483C>G (p.Ala161=)
n.1054C>G
c.531C>G (p.Ala177=)
c.681C>G (p.Ala227=)
c.654C>G (p.Ala218=)
gnomAD v4
7g.150958144G=CA1752417935KCNH2n.1664C=
c.831C= (p.Ala277=)
c.483C= (p.Ala161=)
n.1054C=
c.531C= (p.Ala177=)
c.681C= (p.Ala227=)
c.654C= (p.Ala218=)
7g.150958144G>TCA458871894KCNH2n.1664C>A
c.831C>A (p.Ala277=)
c.483C>A (p.Ala161=)
n.1054C>A
c.531C>A (p.Ala177=)
c.681C>A (p.Ala227=)
c.654C>A (p.Ala218=)
7g.150958145G>ACA369862328KCNH2n.1663C>T
c.830C>T (p.Ala277Val)
c.482C>T (p.Ala161Val)
n.1053C>T
c.530C>T (p.Ala177Val)
c.680C>T (p.Ala227Val)
c.653C>T (p.Ala218Val)
gnomAD v4
7g.150958145G>CCA369862326KCNH2n.1663C>G
c.830C>G (p.Ala277Gly)
c.482C>G (p.Ala161Gly)
n.1053C>G
c.530C>G (p.Ala177Gly)
c.680C>G (p.Ala227Gly)
c.653C>G (p.Ala218Gly)
7g.150958145G=CA1752417939KCNH2n.1663C=
c.830C= (p.Ala277=)
c.482C= (p.Ala161=)
n.1053C=
c.530C= (p.Ala177=)
c.680C= (p.Ala227=)
c.653C= (p.Ala218=)
7g.150958145G>TCA008879KCNH2n.1663C>A
c.830C>A (p.Ala277Asp)
c.482C>A (p.Ala161Asp)
n.1053C>A
c.530C>A (p.Ala177Asp)
c.680C>A (p.Ala227Asp)
c.653C>A (p.Ala218Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958145_150958146insAGGCAGAGGTTCGCACCCGCGAAGCCGAGGCGCACTCGACGGCAGATAAGGCTCGCTGGGTGATGAGCATTGCGATCTCGCACATCAACCGTCTCGATGCCCATATCGCCGCCGGTTCCCCGCCGCCACCA2554201026KCNH2n.1662_1663insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT
c.829_830insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT (p.Ala277delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSerArgArgLeuMetCysGluIleAlaMetLeuIleThrGlnArgAlaLeuSerAlaValGluCysAlaSerAlaSerArgValArgThrSerAlaSer)
c.481_482insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT (p.Ala161delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSerArgArgLeuMetCysGluIleAlaMetLeuIleThrGlnArgAlaLeuSerAlaValGluCysAlaSerAlaSerArgValArgThrSerAlaSer)
n.1052_1053insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT
c.529_530insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT (p.Ala177delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSerArgArgLeuMetCysGluIleAlaMetLeuIleThrGlnArgAlaLeuSerAlaValGluCysAlaSerAlaSerArgValArgThrSerAlaSer)
c.679_680insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT (p.Ala227delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSerArgArgLeuMetCysGluIleAlaMetLeuIleThrGlnArgAlaLeuSerAlaValGluCysAlaSerAlaSerArgValArgThrSerAlaSer)
c.652_653insGTGGCGGCGGGGAACCGGCGGCGATATGGGCATCGAGACGGTTGATGTGCGAGATCGCAATGCTCATCACCCAGCGAGCCTTATCTGCCGTCGAGTGCGCCTCGGCTTCGCGGGTGCGAACCTCTGCCT (p.Ala218delinsGlyGlyGlyGlyGluProAlaAlaIleTrpAlaSerArgArgLeuMetCysGluIleAlaMetLeuIleThrGlnArgAlaLeuSerAlaValGluCysAlaSerAlaSerArgValArgThrSerAlaSer)
7g.150958146C>ACA369862333KCNH2n.1662G>T
c.829G>T (p.Ala277Ser)
c.481G>T (p.Ala161Ser)
n.1052G>T
c.529G>T (p.Ala177Ser)
c.679G>T (p.Ala227Ser)
c.652G>T (p.Ala218Ser)
ClinVar dbSNP gnomAD v4
7g.150958146C=CA1752417945KCNH2n.1662G=
c.829G= (p.Ala277=)
c.481G= (p.Ala161=)
n.1052G=
c.529G= (p.Ala177=)
c.679G= (p.Ala227=)
c.652G= (p.Ala218=)
7g.150958146C>GCA369862330KCNH2n.1662G>C
c.829G>C (p.Ala277Pro)
c.481G>C (p.Ala161Pro)
n.1052G>C
c.529G>C (p.Ala177Pro)
c.679G>C (p.Ala227Pro)
c.652G>C (p.Ala218Pro)
gnomAD v4
7g.150958146C>TCA369862331KCNH2n.1662G>A
c.829G>A (p.Ala277Thr)
c.481G>A (p.Ala161Thr)
n.1052G>A
c.529G>A (p.Ala177Thr)
c.679G>A (p.Ala227Thr)
c.652G>A (p.Ala218Thr)
gnomAD v4
7g.150958147delCA2685607480KCNH2n.1661del
c.828del (p.Cys276TrpfsTer?)
c.480del (p.Cys160TrpfsTer?)
n.1051del
c.528del (p.Cys176TrpfsTer?)
c.678del (p.Cys226TrpfsTer?)
c.651del (p.Cys217TrpfsTer?)
gnomAD v4
7g.150958147G>ACA458871899KCNH2n.1661C>T
c.828C>T (p.Cys276=)
c.480C>T (p.Cys160=)
n.1051C>T
c.528C>T (p.Cys176=)
c.678C>T (p.Cys226=)
c.651C>T (p.Cys217=)
dbSNP gnomAD v4
7g.150958147G>CCA369862334KCNH2n.1661C>G
c.828C>G (p.Cys276Trp)
c.480C>G (p.Cys160Trp)
n.1051C>G
c.528C>G (p.Cys176Trp)
c.678C>G (p.Cys226Trp)
c.651C>G (p.Cys217Trp)
gnomAD v4
7g.150958147G=CA1752417947KCNH2n.1661C=
c.828C= (p.Cys276=)
c.480C= (p.Cys160=)
n.1051C=
c.528C= (p.Cys176=)
c.678C= (p.Cys226=)
c.651C= (p.Cys217=)
7g.150958147G>TCA369862336KCNH2n.1661C>A
c.828C>A (p.Cys276Ter)
c.480C>A (p.Cys160Ter)
n.1051C>A
c.528C>A (p.Cys176Ter)
c.678C>A (p.Cys226Ter)
c.651C>A (p.Cys217Ter)
gnomAD v4
7g.150958148C>ACA369862338KCNH2n.1660G>T
c.827G>T (p.Cys276Phe)
c.479G>T (p.Cys160Phe)
n.1050G>T
c.527G>T (p.Cys176Phe)
c.677G>T (p.Cys226Phe)
c.650G>T (p.Cys217Phe)
gnomAD v4
7g.150958148C>GCA369862340KCNH2n.1660G>C
c.827G>C (p.Cys276Ser)
c.479G>C (p.Cys160Ser)
n.1050G>C
c.527G>C (p.Cys176Ser)
c.677G>C (p.Cys226Ser)
c.650G>C (p.Cys217Ser)
gnomAD v4
7g.150958148C>TCA369862342KCNH2n.1660G>A
c.827G>A (p.Cys276Tyr)
c.479G>A (p.Cys160Tyr)
n.1050G>A
c.527G>A (p.Cys176Tyr)
c.677G>A (p.Cys226Tyr)
c.650G>A (p.Cys217Tyr)
dbSNP gnomAD v4
7g.150958148_150958149delinsCACA1752417949KCNH2n.1659_1660delinsTG
c.826_827delinsTG (p.Cys276=)
c.478_479delinsTG (p.Cys160=)
n.1049_1050delinsTG
c.526_527delinsTG (p.Cys176=)
c.676_677delinsTG (p.Cys226=)
c.649_650delinsTG (p.Cys217=)
7g.150958149delCA008861KCNH2n.1659del
c.826del (p.Cys276AlafsTer?)
c.478del (p.Cys160AlafsTer?)
n.1049del
c.526del (p.Cys176AlafsTer?)
c.676del (p.Cys226AlafsTer?)
c.649del (p.Cys217AlafsTer?)
ClinVar dbSNP
7g.150958149A>CCA369862344KCNH2n.1659T>G
c.826T>G (p.Cys276Gly)
c.478T>G (p.Cys160Gly)
n.1049T>G
c.526T>G (p.Cys176Gly)
c.676T>G (p.Cys226Gly)
c.649T>G (p.Cys217Gly)
7g.150958149A>GCA072176KCNH2n.1659T>C
c.826T>C (p.Cys276Arg)
c.478T>C (p.Cys160Arg)
n.1049T>C
c.526T>C (p.Cys176Arg)
c.676T>C (p.Cys226Arg)
c.649T>C (p.Cys217Arg)
gnomAD v4
7g.150958149A>TCA369862346KCNH2n.1659T>A
c.826T>A (p.Cys276Ser)
c.478T>A (p.Cys160Ser)
n.1049T>A
c.526T>A (p.Cys176Ser)
c.676T>A (p.Cys226Ser)
c.649T>A (p.Cys217Ser)
gnomAD v4
7g.150958150G>ACA458871904KCNH2n.1658C>T
c.825C>T (p.Ser275=)
c.477C>T (p.Ser159=)
n.1048C>T
c.525C>T (p.Ser175=)
c.675C>T (p.Ser225=)
c.648C>T (p.Ser216=)
gnomAD v4
7g.150958150G>CCA369862349KCNH2n.1658C>G
c.825C>G (p.Ser275Arg)
c.477C>G (p.Ser159Arg)
n.1048C>G
c.525C>G (p.Ser175Arg)
c.675C>G (p.Ser225Arg)
c.648C>G (p.Ser216Arg)
ClinVar dbSNP
7g.150958150G=CA1752417956KCNH2n.1658C=
c.825C= (p.Ser275=)
c.477C= (p.Ser159=)
n.1048C=
c.525C= (p.Ser175=)
c.675C= (p.Ser225=)
c.648C= (p.Ser216=)
7g.150958150G>TCA369862350KCNH2n.1658C>A
c.825C>A (p.Ser275Arg)
c.477C>A (p.Ser159Arg)
n.1048C>A
c.525C>A (p.Ser175Arg)
c.675C>A (p.Ser225Arg)
c.648C>A (p.Ser216Arg)
gnomAD v4
7g.150958151C>ACA369862355KCNH2n.1657G>T
c.824G>T (p.Ser275Ile)
c.476G>T (p.Ser159Ile)
n.1047G>T
c.524G>T (p.Ser175Ile)
c.674G>T (p.Ser225Ile)
c.647G>T (p.Ser216Ile)
gnomAD v4
7g.150958151C>GCA369862353KCNH2n.1657G>C
c.824G>C (p.Ser275Thr)
c.476G>C (p.Ser159Thr)
n.1047G>C
c.524G>C (p.Ser175Thr)
c.674G>C (p.Ser225Thr)
c.647G>C (p.Ser216Thr)
7g.150958151C>TCA369862352KCNH2n.1657G>A
c.824G>A (p.Ser275Asn)
c.476G>A (p.Ser159Asn)
n.1047G>A
c.524G>A (p.Ser175Asn)
c.674G>A (p.Ser225Asn)
c.647G>A (p.Ser216Asn)
gnomAD v4
7g.150958152T>ACA369862356KCNH2n.1656A>T
c.823A>T (p.Ser275Cys)
c.475A>T (p.Ser159Cys)
n.1046A>T
c.523A>T (p.Ser175Cys)
c.673A>T (p.Ser225Cys)
c.646A>T (p.Ser216Cys)
gnomAD v4
7g.150958152T>CCA369862358KCNH2n.1656A>G
c.823A>G (p.Ser275Gly)
c.475A>G (p.Ser159Gly)
n.1046A>G
c.523A>G (p.Ser175Gly)
c.673A>G (p.Ser225Gly)
c.646A>G (p.Ser216Gly)
gnomAD v4
7g.150958152T>GCA369862359KCNH2n.1656A>C
c.823A>C (p.Ser275Arg)
c.475A>C (p.Ser159Arg)
n.1046A>C
c.523A>C (p.Ser175Arg)
c.673A>C (p.Ser225Arg)
c.646A>C (p.Ser216Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958152T=CA1752417965KCNH2n.1656A=
c.823A= (p.Ser275=)
c.475A= (p.Ser159=)
n.1046A=
c.523A= (p.Ser175=)
c.673A= (p.Ser225=)
c.646A= (p.Ser216=)
7g.150958153T>ACA369862361KCNH2n.1655A>T
c.822A>T (p.Glu274Asp)
c.474A>T (p.Glu158Asp)
n.1045A>T
c.522A>T (p.Glu174Asp)
c.672A>T (p.Glu224Asp)
c.645A>T (p.Glu215Asp)
7g.150958153T>CCA458871907KCNH2n.1655A>G
c.822A>G (p.Glu274=)
c.474A>G (p.Glu158=)
n.1045A>G
c.522A>G (p.Glu174=)
c.672A>G (p.Glu224=)
c.645A>G (p.Glu215=)
gnomAD v4
7g.150958153T>GCA369862363KCNH2n.1655A>C
c.822A>C (p.Glu274Asp)
c.474A>C (p.Glu158Asp)
n.1045A>C
c.522A>C (p.Glu174Asp)
c.672A>C (p.Glu224Asp)
c.645A>C (p.Glu215Asp)
7g.150958154T>ACA369862365KCNH2n.1654A>T
c.821A>T (p.Glu274Val)
c.473A>T (p.Glu158Val)
n.1044A>T
c.521A>T (p.Glu174Val)
c.671A>T (p.Glu224Val)
c.644A>T (p.Glu215Val)
7g.150958154T>CCA369862367KCNH2n.1654A>G
c.821A>G (p.Glu274Gly)
c.473A>G (p.Glu158Gly)
n.1044A>G
c.521A>G (p.Glu174Gly)
c.671A>G (p.Glu224Gly)
c.644A>G (p.Glu215Gly)
ClinVar gnomAD v4
7g.150958154T>GCA369862369KCNH2n.1654A>C
c.821A>C (p.Glu274Ala)
c.473A>C (p.Glu158Ala)
n.1044A>C
c.521A>C (p.Glu174Ala)
c.671A>C (p.Glu224Ala)
c.644A>C (p.Glu215Ala)
7g.150958156_150958168delCA2573141814KCNH2n.1642_1654del
c.809_821del (p.Thr270LysfsTer?)
c.461_473del (p.Thr154LysfsTer?)
n.1032_1044del
c.509_521del (p.Thr170LysfsTer?)
c.659_671del (p.Thr220LysfsTer?)
c.632_644del (p.Thr211LysfsTer?)
ClinVar dbSNP
7g.150958155C>ACA369862371KCNH2n.1653G>T
c.820G>T (p.Glu274Ter)
c.472G>T (p.Glu158Ter)
n.1043G>T
c.520G>T (p.Glu174Ter)
c.670G>T (p.Glu224Ter)
c.643G>T (p.Glu215Ter)
gnomAD v4
7g.150958155C>GCA369862373KCNH2n.1653G>C
c.820G>C (p.Glu274Gln)
c.472G>C (p.Glu158Gln)
n.1043G>C
c.520G>C (p.Glu174Gln)
c.670G>C (p.Glu224Gln)
c.643G>C (p.Glu215Gln)
7g.150958155C>TCA369862374KCNH2n.1653G>A
c.820G>A (p.Glu274Lys)
c.472G>A (p.Glu158Lys)
n.1043G>A
c.520G>A (p.Glu174Lys)
c.670G>A (p.Glu224Lys)
c.643G>A (p.Glu215Lys)
7g.150958156T>ACA458871911KCNH2n.1652A>T
c.819A>T (p.Arg273=)
c.471A>T (p.Arg157=)
n.1042A>T
c.519A>T (p.Arg173=)
c.669A>T (p.Arg223=)
c.642A>T (p.Arg214=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958156T>CCA458871913KCNH2n.1652A>G
c.819A>G (p.Arg273=)
c.471A>G (p.Arg157=)
n.1042A>G
c.519A>G (p.Arg173=)
c.669A>G (p.Arg223=)
c.642A>G (p.Arg214=)
ClinVar gnomAD v4
7g.150958156T>GCA458871914KCNH2n.1652A>C
c.819A>C (p.Arg273=)
c.471A>C (p.Arg157=)
n.1042A>C
c.519A>C (p.Arg173=)
c.669A>C (p.Arg223=)
c.642A>C (p.Arg214=)
7g.150958156T=CA1752417972KCNH2n.1652A=
c.819A= (p.Arg273=)
c.471A= (p.Arg157=)
n.1042A=
c.519A= (p.Arg173=)
c.669A= (p.Arg223=)
c.642A= (p.Arg214=)
7g.150958157delCA2685607525KCNH2n.1651del
c.818del (p.Arg273GlnfsTer?)
c.470del (p.Arg157GlnfsTer?)
n.1041del
c.518del (p.Arg173GlnfsTer?)
c.668del (p.Arg223GlnfsTer?)
c.641del (p.Arg214GlnfsTer?)
gnomAD v4
7g.150958157C>ACA369862376KCNH2n.1651G>T
c.818G>T (p.Arg273Leu)
c.470G>T (p.Arg157Leu)
n.1041G>T
c.518G>T (p.Arg173Leu)
c.668G>T (p.Arg223Leu)
c.641G>T (p.Arg214Leu)
gnomAD v4
7g.150958157C=CA1752417975KCNH2n.1651G=
c.818G= (p.Arg273=)
c.470G= (p.Arg157=)
n.1041G=
c.518G= (p.Arg173=)
c.668G= (p.Arg223=)
c.641G= (p.Arg214=)
7g.150958157C>GCA369862377KCNH2n.1651G>C
c.818G>C (p.Arg273Pro)
c.470G>C (p.Arg157Pro)
n.1041G>C
c.518G>C (p.Arg173Pro)
c.668G>C (p.Arg223Pro)
c.641G>C (p.Arg214Pro)
gnomAD v4
7g.150958157C>TCA008852KCNH2n.1651G>A
c.818G>A (p.Arg273Gln)
c.470G>A (p.Arg157Gln)
n.1041G>A
c.518G>A (p.Arg173Gln)
c.668G>A (p.Arg223Gln)
c.641G>A (p.Arg214Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958159_150958164dupCA2580077687KCNH2n.1646_1651dup
c.813_818dup (p.Arg273_Glu274insSerArg)
c.465_470dup (p.Arg157_Glu158insSerArg)
n.1036_1041dup
c.513_518dup (p.Arg173_Glu174insSerArg)
c.663_668dup (p.Arg223_Glu224insSerArg)
c.636_641dup (p.Arg214_Glu215insSerArg)
ClinVar
7g.150958157_150958158insTTCA2685607528KCNH2n.1650_1651insAA
c.817_818insAA (p.Arg273GlnfsTer?)
c.469_470insAA (p.Arg157GlnfsTer?)
n.1040_1041insAA
c.517_518insAA (p.Arg173GlnfsTer?)
c.667_668insAA (p.Arg223GlnfsTer?)
c.640_641insAA (p.Arg214GlnfsTer?)
gnomAD v4
7g.150958158G>ACA369862380KCNH2n.1650C>T
c.817C>T (p.Arg273Ter)
c.469C>T (p.Arg157Ter)
n.1040C>T
c.517C>T (p.Arg173Ter)
c.667C>T (p.Arg223Ter)
c.640C>T (p.Arg214Ter)
ClinVar dbSNP gnomAD v4
7g.150958158G>CCA369862382KCNH2n.1650C>G
c.817C>G (p.Arg273Gly)
c.469C>G (p.Arg157Gly)
n.1040C>G
c.517C>G (p.Arg173Gly)
c.667C>G (p.Arg223Gly)
c.640C>G (p.Arg214Gly)
ClinVar dbSNP
7g.150958158G=CA1752417978KCNH2n.1650C=
c.817C= (p.Arg273=)
c.469C= (p.Arg157=)
n.1040C=
c.517C= (p.Arg173=)
c.667C= (p.Arg223=)
c.640C= (p.Arg214=)
7g.150958158G>TCA16605083KCNH2n.1650C>A
c.817C>A (p.Arg273=)
c.469C>A (p.Arg157=)
n.1040C>A
c.517C>A (p.Arg173=)
c.667C>A (p.Arg223=)
c.640C>A (p.Arg214=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958160delCA2685607529KCNH2n.1650del
c.817del (p.Arg273GlufsTer?)
c.469del (p.Arg157GlufsTer?)
n.1040del
c.517del (p.Arg173GlufsTer?)
c.667del (p.Arg223GlufsTer?)
c.640del (p.Arg214GlufsTer?)
gnomAD v4
7g.150958159G>ACA458871917KCNH2n.1649C>T
c.816C>T (p.Ser272=)
c.468C>T (p.Ser156=)
n.1039C>T
c.516C>T (p.Ser172=)
c.666C>T (p.Ser222=)
c.639C>T (p.Ser213=)
dbSNP gnomAD v3 gnomAD v4
7g.150958159G>CCA458871919KCNH2n.1649C>G
c.816C>G (p.Ser272=)
c.468C>G (p.Ser156=)
n.1039C>G
c.516C>G (p.Ser172=)
c.666C>G (p.Ser222=)
c.639C>G (p.Ser213=)
ClinVar dbSNP gnomAD v4
7g.150958159G=CA1752417980KCNH2n.1649C=
c.816C= (p.Ser272=)
c.468C= (p.Ser156=)
n.1039C=
c.516C= (p.Ser172=)
c.666C= (p.Ser222=)
c.639C= (p.Ser213=)
7g.150958159G>TCA458871921KCNH2n.1649C>A
c.816C>A (p.Ser272=)
c.468C>A (p.Ser156=)
n.1039C>A
c.516C>A (p.Ser172=)
c.666C>A (p.Ser222=)
c.639C>A (p.Ser213=)
gnomAD v4
7g.150958160G>ACA072199KCNH2n.1648C>T
c.815C>T (p.Ser272Phe)
c.467C>T (p.Ser156Phe)
n.1038C>T
c.515C>T (p.Ser172Phe)
c.665C>T (p.Ser222Phe)
c.638C>T (p.Ser213Phe)
gnomAD v4
7g.150958160G>CCA369862384KCNH2n.1648C>G
c.815C>G (p.Ser272Cys)
c.467C>G (p.Ser156Cys)
n.1038C>G
c.515C>G (p.Ser172Cys)
c.665C>G (p.Ser222Cys)
c.638C>G (p.Ser213Cys)
7g.150958160G>TCA369862386KCNH2n.1648C>A
c.815C>A (p.Ser272Tyr)
c.467C>A (p.Ser156Tyr)
n.1038C>A
c.515C>A (p.Ser172Tyr)
c.665C>A (p.Ser222Tyr)
c.638C>A (p.Ser213Tyr)
gnomAD v4
7g.150958161A=CA1752417982KCNH2n.1647T=
c.814T= (p.Ser272=)
c.466T= (p.Ser156=)
n.1037T=
c.514T= (p.Ser172=)
c.664T= (p.Ser222=)
c.637T= (p.Ser213=)
7g.150958161A>CCA369862388KCNH2n.1647T>G
c.814T>G (p.Ser272Ala)
c.466T>G (p.Ser156Ala)
n.1037T>G
c.514T>G (p.Ser172Ala)
c.664T>G (p.Ser222Ala)
c.637T>G (p.Ser213Ala)
7g.150958161A>GCA369862390KCNH2n.1647T>C
c.814T>C (p.Ser272Pro)
c.466T>C (p.Ser156Pro)
n.1037T>C
c.514T>C (p.Ser172Pro)
c.664T>C (p.Ser222Pro)
c.637T>C (p.Ser213Pro)
dbSNP gnomAD v4
7g.150958161A>TCA169081216KCNH2n.1647T>A
c.814T>A (p.Ser272Thr)
c.466T>A (p.Ser156Thr)
n.1037T>A
c.514T>A (p.Ser172Thr)
c.664T>A (p.Ser222Thr)
c.637T>A (p.Ser213Thr)
dbSNP
7g.150958161_150958163delinsAGCCA1752417984KCNH2n.1645_1647delinsGCT
c.812_814delinsGCT (p.Arg271=)
c.464_466delinsGCT (p.Arg155=)
n.1035_1037delinsGCT
c.512_514delinsGCT (p.Arg171=)
c.662_664delinsGCT (p.Arg221=)
c.635_637delinsGCT (p.Arg212=)
7g.150958162G>ACA169081219KCNH2n.1646C>T
c.813C>T (p.Arg271=)
c.465C>T (p.Arg155=)
n.1036C>T
c.513C>T (p.Arg171=)
c.663C>T (p.Arg221=)
c.636C>T (p.Arg212=)
ClinVar dbSNP gnomAD v4
7g.150958162G>CCA458871926KCNH2n.1646C>G
c.813C>G (p.Arg271=)
c.465C>G (p.Arg155=)
n.1036C>G
c.513C>G (p.Arg171=)
c.663C>G (p.Arg221=)
c.636C>G (p.Arg212=)
gnomAD v4
7g.150958162G=CA1752417987KCNH2n.1646C=
c.813C= (p.Arg271=)
c.465C= (p.Arg155=)
n.1036C=
c.513C= (p.Arg171=)
c.663C= (p.Arg221=)
c.636C= (p.Arg212=)
7g.150958162G>TCA458871925KCNH2n.1646C>A
c.813C>A (p.Arg271=)
c.465C>A (p.Arg155=)
n.1036C>A
c.513C>A (p.Arg171=)
c.663C>A (p.Arg221=)
c.636C>A (p.Arg212=)
gnomAD v4
7g.150958162_150958166delinsGCGCGCA1752417988KCNH2n.1642_1646delinsCGCGC
c.809_813delinsCGCGC (p.Thr270=)
c.461_465delinsCGCGC (p.Thr154=)
n.1032_1036delinsCGCGC
c.509_513delinsCGCGC (p.Thr170=)
c.659_663delinsCGCGC (p.Thr220=)
c.632_636delinsCGCGC (p.Thr211=)
7g.150958165_150958166delCA1752417986KCNH2n.1645_1646del
c.812_813del (p.Arg271LeufsTer?)
c.464_465del (p.Arg155LeufsTer?)
n.1035_1036del
c.512_513del (p.Arg171LeufsTer?)
c.662_663del (p.Arg221LeufsTer?)
c.635_636del (p.Arg212LeufsTer?)
ClinVar dbSNP
7g.150958163C>ACA369862392KCNH2n.1645G>T
c.812G>T (p.Arg271Leu)
c.464G>T (p.Arg155Leu)
n.1035G>T
c.512G>T (p.Arg171Leu)
c.662G>T (p.Arg221Leu)
c.635G>T (p.Arg212Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958163C=CA1752417992KCNH2n.1645G=
c.812G= (p.Arg271=)
c.464G= (p.Arg155=)
n.1035G=
c.512G= (p.Arg171=)
c.662G= (p.Arg221=)
c.635G= (p.Arg212=)
7g.150958163C>GCA369862396KCNH2n.1645G>C
c.812G>C (p.Arg271Pro)
c.464G>C (p.Arg155Pro)
n.1035G>C
c.512G>C (p.Arg171Pro)
c.662G>C (p.Arg221Pro)
c.635G>C (p.Arg212Pro)
gnomAD v4
7g.150958163C>TCA008845KCNH2n.1645G>A
c.812G>A (p.Arg271His)
c.464G>A (p.Arg155His)
n.1035G>A
c.512G>A (p.Arg171His)
c.662G>A (p.Arg221His)
c.635G>A (p.Arg212His)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958163_150958166delinsGCTTTTCA008822KCNH2n.1642_1645delinsAAAAGC
c.809_812delinsAAAAGC (p.Thr270LysfsTer?)
c.461_464delinsAAAAGC (p.Thr154LysfsTer?)
n.1032_1035delinsAAAAGC
c.509_512delinsAAAAGC (p.Thr170LysfsTer?)
c.659_662delinsAAAAGC (p.Thr220LysfsTer?)
c.632_635delinsAAAAGC (p.Thr211LysfsTer?)
ClinVar dbSNP
7g.150958163_150958164insTCA658797047KCNH2n.1644_1645insA
c.811_812insA (p.Arg271GlnfsTer?)
c.463_464insA (p.Arg155GlnfsTer?)
n.1034_1035insA
c.511_512insA (p.Arg171GlnfsTer?)
c.661_662insA (p.Arg221GlnfsTer?)
c.634_635insA (p.Arg212GlnfsTer?)
ClinVar dbSNP
7g.150958164G>ACA369862398KCNH2n.1644C>T
c.811C>T (p.Arg271Cys)
c.463C>T (p.Arg155Cys)
n.1034C>T
c.511C>T (p.Arg171Cys)
c.661C>T (p.Arg221Cys)
c.634C>T (p.Arg212Cys)
dbSNP gnomAD v4
7g.150958164G>CCA369862400KCNH2n.1644C>G
c.811C>G (p.Arg271Gly)
c.463C>G (p.Arg155Gly)
n.1034C>G
c.511C>G (p.Arg171Gly)
c.661C>G (p.Arg221Gly)
c.634C>G (p.Arg212Gly)
gnomAD v4
7g.150958164G=CA1752418000KCNH2n.1644C=
c.811C= (p.Arg271=)
c.463C= (p.Arg155=)
n.1034C=
c.511C= (p.Arg171=)
c.661C= (p.Arg221=)
c.634C= (p.Arg212=)
7g.150958164G>TCA369862401KCNH2n.1644C>A
c.811C>A (p.Arg271Ser)
c.463C>A (p.Arg155Ser)
n.1034C>A
c.511C>A (p.Arg171Ser)
c.661C>A (p.Arg221Ser)
c.634C>A (p.Arg212Ser)
gnomAD v4
7g.150958165C>ACA458871935KCNH2n.1643G>T
c.810G>T (p.Thr270=)
c.462G>T (p.Thr154=)
n.1033G>T
c.510G>T (p.Thr170=)
c.660G>T (p.Thr220=)
c.633G>T (p.Thr211=)
gnomAD v4
7g.150958165C=CA1752418002KCNH2n.1643G=
c.810G= (p.Thr270=)
c.462G= (p.Thr154=)
n.1033G=
c.510G= (p.Thr170=)
c.660G= (p.Thr220=)
c.633G= (p.Thr211=)
7g.150958165C>GCA458871933KCNH2n.1643G>C
c.810G>C (p.Thr270=)
c.462G>C (p.Thr154=)
n.1033G>C
c.510G>C (p.Thr170=)
c.660G>C (p.Thr220=)
c.633G>C (p.Thr211=)
7g.150958165C>TCA458871934KCNH2n.1643G>A
c.810G>A (p.Thr270=)
c.462G>A (p.Thr154=)
n.1033G>A
c.510G>A (p.Thr170=)
c.660G>A (p.Thr220=)
c.633G>A (p.Thr211=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958166G>ACA369862404KCNH2n.1642C>T
c.809C>T (p.Thr270Met)
c.461C>T (p.Thr154Met)
n.1032C>T
c.509C>T (p.Thr170Met)
c.659C>T (p.Thr220Met)
c.632C>T (p.Thr211Met)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958166G>CCA369862408KCNH2n.1642C>G
c.809C>G (p.Thr270Arg)
c.461C>G (p.Thr154Arg)
n.1032C>G
c.509C>G (p.Thr170Arg)
c.659C>G (p.Thr220Arg)
c.632C>G (p.Thr211Arg)
dbSNP gnomAD v4
7g.150958166G=CA1752418004KCNH2n.1642C=
c.809C= (p.Thr270=)
c.461C= (p.Thr154=)
n.1032C=
c.509C= (p.Thr170=)
c.659C= (p.Thr220=)
c.632C= (p.Thr211=)
7g.150958166G>TCA369862406KCNH2n.1642C>A
c.809C>A (p.Thr270Lys)
c.461C>A (p.Thr154Lys)
n.1032C>A
c.509C>A (p.Thr170Lys)
c.659C>A (p.Thr220Lys)
c.632C>A (p.Thr211Lys)
dbSNP gnomAD v4
7g.150958166_150958170delinsGTCCGCA1752418007KCNH2n.1638_1642delinsCGGAC
c.805_809delinsCGGAC (p.Arg269=)
c.457_461delinsCGGAC (p.Arg153=)
n.1028_1032delinsCGGAC
c.505_509delinsCGGAC (p.Arg169=)
c.655_659delinsCGGAC (p.Arg219=)
c.628_632delinsCGGAC (p.Arg210=)
7g.150958167T>ACA369862409KCNH2n.1641A>T
c.808A>T (p.Thr270Ser)
c.460A>T (p.Thr154Ser)
n.1031A>T
c.508A>T (p.Thr170Ser)
c.658A>T (p.Thr220Ser)
c.631A>T (p.Thr211Ser)
7g.150958167T>CCA369862411KCNH2n.1641A>G
c.808A>G (p.Thr270Ala)
c.460A>G (p.Thr154Ala)
n.1031A>G
c.508A>G (p.Thr170Ala)
c.658A>G (p.Thr220Ala)
c.631A>G (p.Thr211Ala)
dbSNP gnomAD v4
7g.150958167T>GCA369862412KCNH2n.1641A>C
c.808A>C (p.Thr270Pro)
c.460A>C (p.Thr154Pro)
n.1031A>C
c.508A>C (p.Thr170Pro)
c.658A>C (p.Thr220Pro)
c.631A>C (p.Thr211Pro)
7g.150958167_150958170delinsACTCA658797048KCNH2n.1638_1641delinsAGT
c.805_808delinsAGT (p.Arg269SerfsTer?)
c.457_460delinsAGT (p.Arg153SerfsTer?)
n.1028_1031delinsAGT
c.505_508delinsAGT (p.Arg169SerfsTer?)
c.655_658delinsAGT (p.Arg219SerfsTer?)
c.628_631delinsAGT (p.Arg210SerfsTer?)
ClinVar dbSNP
7g.150958168C>ACA458871941KCNH2n.1640G>T
c.807G>T (p.Arg269=)
c.459G>T (p.Arg153=)
n.1030G>T
c.507G>T (p.Arg169=)
c.657G>T (p.Arg219=)
c.630G>T (p.Arg210=)
gnomAD v4
7g.150958168C>GCA458871943KCNH2n.1640G>C
c.807G>C (p.Arg269=)
c.459G>C (p.Arg153=)
n.1030G>C
c.507G>C (p.Arg169=)
c.657G>C (p.Arg219=)
c.630G>C (p.Arg210=)
gnomAD v4
7g.150958168C>TCA458871942KCNH2n.1640G>A
c.807G>A (p.Arg269=)
c.459G>A (p.Arg153=)
n.1030G>A
c.507G>A (p.Arg169=)
c.657G>A (p.Arg219=)
c.630G>A (p.Arg210=)
ClinVar gnomAD v4
7g.150958169delCA2685607561KCNH2n.1640del
c.807del (p.Thr270ArgfsTer?)
c.459del (p.Thr154ArgfsTer?)
n.1030del
c.507del (p.Thr170ArgfsTer?)
c.657del (p.Thr220ArgfsTer?)
c.630del (p.Thr211ArgfsTer?)
gnomAD v4
7g.150958169C>ACA369862415KCNH2n.1639G>T
c.806G>T (p.Arg269Leu)
c.458G>T (p.Arg153Leu)
n.1029G>T
c.506G>T (p.Arg169Leu)
c.656G>T (p.Arg219Leu)
c.629G>T (p.Arg210Leu)
gnomAD v4
7g.150958169C=CA1752418012KCNH2n.1639G=
c.806G= (p.Arg269=)
c.458G= (p.Arg153=)
n.1029G=
c.506G= (p.Arg169=)
c.656G= (p.Arg219=)
c.629G= (p.Arg210=)
7g.150958169C>GCA369862416KCNH2n.1639G>C
c.806G>C (p.Arg269Pro)
c.458G>C (p.Arg153Pro)
n.1029G>C
c.506G>C (p.Arg169Pro)
c.656G>C (p.Arg219Pro)
c.629G>C (p.Arg210Pro)
gnomAD v4
7g.150958169C>TCA369862417KCNH2n.1639G>A
c.806G>A (p.Arg269Gln)
c.458G>A (p.Arg153Gln)
n.1029G>A
c.506G>A (p.Arg169Gln)
c.656G>A (p.Arg219Gln)
c.629G>A (p.Arg210Gln)
dbSNP gnomAD v4
7g.150958170G>ACA008816KCNH2n.1638C>T
c.805C>T (p.Arg269Trp)
c.457C>T (p.Arg153Trp)
n.1028C>T
c.505C>T (p.Arg169Trp)
c.655C>T (p.Arg219Trp)
c.628C>T (p.Arg210Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958170G>CCA369862420KCNH2n.1638C>G
c.805C>G (p.Arg269Gly)
c.457C>G (p.Arg153Gly)
n.1028C>G
c.505C>G (p.Arg169Gly)
c.655C>G (p.Arg219Gly)
c.628C>G (p.Arg210Gly)
7g.150958170G=CA1752418016KCNH2n.1638C=
c.805C= (p.Arg269=)
c.457C= (p.Arg153=)
n.1028C=
c.505C= (p.Arg169=)
c.655C= (p.Arg219=)
c.628C= (p.Arg210=)
7g.150958170G>TCA458871944KCNH2n.1638C>A
c.805C>A (p.Arg269=)
c.457C>A (p.Arg153=)
n.1028C>A
c.505C>A (p.Arg169=)
c.655C>A (p.Arg219=)
c.628C>A (p.Arg210=)
gnomAD v4
7g.150958172delCA2573141815KCNH2n.1638del
c.805del (p.Arg269GlyfsTer?)
c.457del (p.Arg153GlyfsTer?)
n.1028del
c.505del (p.Arg169GlyfsTer?)
c.655del (p.Arg219GlyfsTer?)
c.628del (p.Arg210GlyfsTer?)
ClinVar dbSNP
7g.150958171G>ACA458871946KCNH2n.1637C>T
c.804C>T (p.Ala268=)
c.456C>T (p.Ala152=)
n.1027C>T
c.504C>T (p.Ala168=)
c.654C>T (p.Ala218=)
c.627C>T (p.Ala209=)
dbSNP gnomAD v4
7g.150958171G>CCA458871947KCNH2n.1637C>G
c.804C>G (p.Ala268=)
c.456C>G (p.Ala152=)
n.1027C>G
c.504C>G (p.Ala168=)
c.654C>G (p.Ala218=)
c.627C>G (p.Ala209=)
7g.150958171G=CA1752418018KCNH2n.1637C=
c.804C= (p.Ala268=)
c.456C= (p.Ala152=)
n.1027C=
c.504C= (p.Ala168=)
c.654C= (p.Ala218=)
c.627C= (p.Ala209=)
7g.150958171G>TCA458871948KCNH2n.1637C>A
c.804C>A (p.Ala268=)
c.456C>A (p.Ala152=)
n.1027C>A
c.504C>A (p.Ala168=)
c.654C>A (p.Ala218=)
c.627C>A (p.Ala209=)
dbSNP gnomAD v4
7g.150958172G>ACA369862422KCNH2n.1636C>T
c.803C>T (p.Ala268Val)
c.455C>T (p.Ala152Val)
n.1026C>T
c.503C>T (p.Ala168Val)
c.653C>T (p.Ala218Val)
c.626C>T (p.Ala209Val)
ClinVar dbSNP gnomAD v4
7g.150958172G>CCA369862424KCNH2n.1636C>G
c.803C>G (p.Ala268Gly)
c.455C>G (p.Ala152Gly)
n.1026C>G
c.503C>G (p.Ala168Gly)
c.653C>G (p.Ala218Gly)
c.626C>G (p.Ala209Gly)
ClinVar dbSNP gnomAD v4
7g.150958172G=CA1752418022KCNH2n.1636C=
c.803C= (p.Ala268=)
c.455C= (p.Ala152=)
n.1026C=
c.503C= (p.Ala168=)
c.653C= (p.Ala218=)
c.626C= (p.Ala209=)
7g.150958172G>TCA369862426KCNH2n.1636C>A
c.803C>A (p.Ala268Asp)
c.455C>A (p.Ala152Asp)
n.1026C>A
c.503C>A (p.Ala168Asp)
c.653C>A (p.Ala218Asp)
c.626C>A (p.Ala209Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958173C>ACA369862430KCNH2n.1635G>T
c.802G>T (p.Ala268Ser)
c.454G>T (p.Ala152Ser)
n.1025G>T
c.502G>T (p.Ala168Ser)
c.652G>T (p.Ala218Ser)
c.625G>T (p.Ala209Ser)
gnomAD v4
7g.150958173C>GCA369862432KCNH2n.1635G>C
c.802G>C (p.Ala268Pro)
c.454G>C (p.Ala152Pro)
n.1025G>C
c.502G>C (p.Ala168Pro)
c.652G>C (p.Ala218Pro)
c.625G>C (p.Ala209Pro)
gnomAD v4
7g.150958173C>TCA369862428KCNH2n.1635G>A
c.802G>A (p.Ala268Thr)
c.454G>A (p.Ala152Thr)
n.1025G>A
c.502G>A (p.Ala168Thr)
c.652G>A (p.Ala218Thr)
c.625G>A (p.Ala209Thr)
gnomAD v4
7g.150958174delCA072131KCNH2n.1635del
c.802del (p.Ala268ProfsTer?)
c.454del (p.Ala152ProfsTer?)
n.1025del
c.502del (p.Ala168ProfsTer?)
c.652del (p.Ala218ProfsTer?)
c.625del (p.Ala209ProfsTer?)
gnomAD v4
7g.150958174C>ACA458871949KCNH2n.1634G>T
c.801G>T (p.Leu267=)
c.453G>T (p.Leu151=)
n.1024G>T
c.501G>T (p.Leu167=)
c.651G>T (p.Leu217=)
c.624G>T (p.Leu208=)
gnomAD v4
7g.150958174C>GCA458871950KCNH2n.1634G>C
c.801G>C (p.Leu267=)
c.453G>C (p.Leu151=)
n.1024G>C
c.501G>C (p.Leu167=)
c.651G>C (p.Leu217=)
c.624G>C (p.Leu208=)
gnomAD v4
7g.150958174C>TCA458871953KCNH2n.1634G>A
c.801G>A (p.Leu267=)
c.453G>A (p.Leu151=)
n.1024G>A
c.501G>A (p.Leu167=)
c.651G>A (p.Leu217=)
c.624G>A (p.Leu208=)
gnomAD v4
7g.150958175A>CCA369862434KCNH2n.1633T>G
c.800T>G (p.Leu267Arg)
c.452T>G (p.Leu151Arg)
n.1023T>G
c.500T>G (p.Leu167Arg)
c.650T>G (p.Leu217Arg)
c.623T>G (p.Leu208Arg)
7g.150958175A>GCA369862438KCNH2n.1633T>C
c.800T>C (p.Leu267Pro)
c.452T>C (p.Leu151Pro)
n.1023T>C
c.500T>C (p.Leu167Pro)
c.650T>C (p.Leu217Pro)
c.623T>C (p.Leu208Pro)
gnomAD v4
7g.150958175A>TCA369862436KCNH2n.1633T>A
c.800T>A (p.Leu267Gln)
c.452T>A (p.Leu151Gln)
n.1023T>A
c.500T>A (p.Leu167Gln)
c.650T>A (p.Leu217Gln)
c.623T>A (p.Leu208Gln)
gnomAD v4
7g.150958176G>ACA458871956KCNH2n.1632C>T
c.799C>T (p.Leu267=)
c.451C>T (p.Leu151=)
n.1022C>T
c.499C>T (p.Leu167=)
c.649C>T (p.Leu217=)
c.622C>T (p.Leu208=)
gnomAD v4
7g.150958176G>CCA369862440KCNH2n.1632C>G
c.799C>G (p.Leu267Val)
c.451C>G (p.Leu151Val)
n.1022C>G
c.499C>G (p.Leu167Val)
c.649C>G (p.Leu217Val)
c.622C>G (p.Leu208Val)
7g.150958176G>TCA369862441KCNH2n.1632C>A
c.799C>A (p.Leu267Met)
c.451C>A (p.Leu151Met)
n.1022C>A
c.499C>A (p.Leu167Met)
c.649C>A (p.Leu217Met)
c.622C>A (p.Leu208Met)
gnomAD v4
7g.150958177G>ACA169081231KCNH2n.1631C>T
c.798C>T (p.Ser266=)
c.450C>T (p.Ser150=)
n.1021C>T
c.498C>T (p.Ser166=)
c.648C>T (p.Ser216=)
c.621C>T (p.Ser207=)
ClinVar dbSNP gnomAD v4
7g.150958177G>CCA369862443KCNH2n.1631C>G
c.798C>G (p.Ser266Arg)
c.450C>G (p.Ser150Arg)
n.1021C>G
c.498C>G (p.Ser166Arg)
c.648C>G (p.Ser216Arg)
c.621C>G (p.Ser207Arg)
7g.150958177G=CA1752418025KCNH2n.1631C=
c.798C= (p.Ser266=)
c.450C= (p.Ser150=)
n.1021C=
c.498C= (p.Ser166=)
c.648C= (p.Ser216=)
c.621C= (p.Ser207=)
7g.150958177G>TCA369862445KCNH2n.1631C>A
c.798C>A (p.Ser266Arg)
c.450C>A (p.Ser150Arg)
n.1021C>A
c.498C>A (p.Ser166Arg)
c.648C>A (p.Ser216Arg)
c.621C>A (p.Ser207Arg)
gnomAD v4
7g.150958178C>ACA369862448KCNH2n.1630G>T
c.797G>T (p.Ser266Ile)
c.449G>T (p.Ser150Ile)
n.1020G>T
c.497G>T (p.Ser166Ile)
c.647G>T (p.Ser216Ile)
c.620G>T (p.Ser207Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958178C=CA1752418030KCNH2n.1630G=
c.797G= (p.Ser266=)
c.449G= (p.Ser150=)
n.1020G=
c.497G= (p.Ser166=)
c.647G= (p.Ser216=)
c.620G= (p.Ser207=)
7g.150958178C>GCA369862450KCNH2n.1630G>C
c.797G>C (p.Ser266Thr)
c.449G>C (p.Ser150Thr)
n.1020G>C
c.497G>C (p.Ser166Thr)
c.647G>C (p.Ser216Thr)
c.620G>C (p.Ser207Thr)
gnomAD v4
7g.150958178C>TCA369862451KCNH2n.1630G>A
c.797G>A (p.Ser266Asn)
c.449G>A (p.Ser150Asn)
n.1020G>A
c.497G>A (p.Ser166Asn)
c.647G>A (p.Ser216Asn)
c.620G>A (p.Ser207Asn)
dbSNP gnomAD v4
7g.150958179T>ACA369862454KCNH2n.1629A>T
c.796A>T (p.Ser266Cys)
c.448A>T (p.Ser150Cys)
n.1019A>T
c.496A>T (p.Ser166Cys)
c.646A>T (p.Ser216Cys)
c.619A>T (p.Ser207Cys)
gnomAD v4
7g.150958179T>CCA369862455KCNH2n.1629A>G
c.796A>G (p.Ser266Gly)
c.448A>G (p.Ser150Gly)
n.1019A>G
c.496A>G (p.Ser166Gly)
c.646A>G (p.Ser216Gly)
c.619A>G (p.Ser207Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958179T>GCA369862457KCNH2n.1629A>C
c.796A>C (p.Ser266Arg)
c.448A>C (p.Ser150Arg)
n.1019A>C
c.496A>C (p.Ser166Arg)
c.646A>C (p.Ser216Arg)
c.619A>C (p.Ser207Arg)
7g.150958179T=CA1752418032KCNH2n.1629A=
c.796A= (p.Ser266=)
c.448A= (p.Ser150=)
n.1019A=
c.496A= (p.Ser166=)
c.646A= (p.Ser216=)
c.619A= (p.Ser207=)
7g.150958180G>ACA458871964KCNH2n.1628C>T
c.795C>T (p.Cys265=)
c.447C>T (p.Cys149=)
n.1018C>T
c.495C>T (p.Cys165=)
c.645C>T (p.Cys215=)
c.618C>T (p.Cys206=)
gnomAD v4
7g.150958180G>CCA369862458KCNH2n.1628C>G
c.795C>G (p.Cys265Trp)
c.447C>G (p.Cys149Trp)
n.1018C>G
c.495C>G (p.Cys165Trp)
c.645C>G (p.Cys215Trp)
c.618C>G (p.Cys206Trp)
gnomAD v4
7g.150958180G>TCA369862460KCNH2n.1628C>A
c.795C>A (p.Cys265Ter)
c.447C>A (p.Cys149Ter)
n.1018C>A
c.495C>A (p.Cys165Ter)
c.645C>A (p.Cys215Ter)
c.618C>A (p.Cys206Ter)
gnomAD v4
7g.150958181C>ACA072127KCNH2n.1627G>T
c.794G>T (p.Cys265Phe)
c.446G>T (p.Cys149Phe)
n.1017G>T
c.494G>T (p.Cys165Phe)
c.644G>T (p.Cys215Phe)
c.617G>T (p.Cys206Phe)
gnomAD v4
7g.150958181C>GCA072121KCNH2n.1627G>C
c.794G>C (p.Cys265Ser)
c.446G>C (p.Cys149Ser)
n.1017G>C
c.494G>C (p.Cys165Ser)
c.644G>C (p.Cys215Ser)
c.617G>C (p.Cys206Ser)
7g.150958181C>TCA369862463KCNH2n.1627G>A
c.794G>A (p.Cys265Tyr)
c.446G>A (p.Cys149Tyr)
n.1017G>A
c.494G>A (p.Cys165Tyr)
c.644G>A (p.Cys215Tyr)
c.617G>A (p.Cys206Tyr)
gnomAD v4 COSMIC COSMIC
7g.150958181_150958184delCA2685607585KCNH2n.1624_1627del
c.791_794del (p.Ser264ThrfsTer?)
c.443_446del (p.Ser148ThrfsTer?)
n.1014_1017del
c.491_494del (p.Ser164ThrfsTer?)
c.641_644del (p.Ser214ThrfsTer?)
c.614_617del (p.Ser205ThrfsTer?)
gnomAD v4
7g.150958182A>CCA369862469KCNH2n.1626T>G
c.793T>G (p.Cys265Gly)
c.445T>G (p.Cys149Gly)
n.1016T>G
c.493T>G (p.Cys165Gly)
c.643T>G (p.Cys215Gly)
c.616T>G (p.Cys206Gly)
gnomAD v4
7g.150958182A>GCA369862466KCNH2n.1626T>C
c.793T>C (p.Cys265Arg)
c.445T>C (p.Cys149Arg)
n.1016T>C
c.493T>C (p.Cys165Arg)
c.643T>C (p.Cys215Arg)
c.616T>C (p.Cys206Arg)
gnomAD v4
7g.150958182A>TCA369862467KCNH2n.1626T>A
c.793T>A (p.Cys265Ser)
c.445T>A (p.Cys149Ser)
n.1016T>A
c.493T>A (p.Cys165Ser)
c.643T>A (p.Cys215Ser)
c.616T>A (p.Cys206Ser)
7g.150958183G>ACA458871971KCNH2n.1625C>T
c.792C>T (p.Ser264=)
c.444C>T (p.Ser148=)
n.1015C>T
c.492C>T (p.Ser164=)
c.642C>T (p.Ser214=)
c.615C>T (p.Ser205=)
gnomAD v4
7g.150958183G>CCA369862471KCNH2n.1625C>G
c.792C>G (p.Ser264Arg)
c.444C>G (p.Ser148Arg)
n.1015C>G
c.492C>G (p.Ser164Arg)
c.642C>G (p.Ser214Arg)
c.615C>G (p.Ser205Arg)
7g.150958183G>TCA369862473KCNH2n.1625C>A
c.792C>A (p.Ser264Arg)
c.444C>A (p.Ser148Arg)
n.1015C>A
c.492C>A (p.Ser164Arg)
c.642C>A (p.Ser214Arg)
c.615C>A (p.Ser205Arg)
gnomAD v4
7g.150958184C>ACA369862475KCNH2n.1624G>T
c.791G>T (p.Ser264Ile)
c.443G>T (p.Ser148Ile)
n.1014G>T
c.491G>T (p.Ser164Ile)
c.641G>T (p.Ser214Ile)
c.614G>T (p.Ser205Ile)
gnomAD v4
7g.150958184C>GCA369862477KCNH2n.1624G>C
c.791G>C (p.Ser264Thr)
c.443G>C (p.Ser148Thr)
n.1014G>C
c.491G>C (p.Ser164Thr)
c.641G>C (p.Ser214Thr)
c.614G>C (p.Ser205Thr)
7g.150958184C>TCA072115KCNH2n.1624G>A
c.791G>A (p.Ser264Asn)
c.443G>A (p.Ser148Asn)
n.1014G>A
c.491G>A (p.Ser164Asn)
c.641G>A (p.Ser214Asn)
c.614G>A (p.Ser205Asn)
gnomAD v4
7g.150958185T>ACA369862479KCNH2n.1623A>T
c.790A>T (p.Ser264Cys)
c.442A>T (p.Ser148Cys)
n.1013A>T
c.490A>T (p.Ser164Cys)
c.640A>T (p.Ser214Cys)
c.613A>T (p.Ser205Cys)
gnomAD v4
7g.150958185T>CCA369862481KCNH2n.1623A>G
c.790A>G (p.Ser264Gly)
c.442A>G (p.Ser148Gly)
n.1013A>G
c.490A>G (p.Ser164Gly)
c.640A>G (p.Ser214Gly)
c.613A>G (p.Ser205Gly)
gnomAD v4
7g.150958185T>GCA369862483KCNH2n.1623A>C
c.790A>C (p.Ser264Arg)
c.442A>C (p.Ser148Arg)
n.1013A>C
c.490A>C (p.Ser164Arg)
c.640A>C (p.Ser214Arg)
c.613A>C (p.Ser205Arg)
ClinVar gnomAD v4
7g.150958186G>ACA072106KCNH2n.1622C>T
c.789C>T (p.Ser263=)
c.441C>T (p.Ser147=)
n.1012C>T
c.489C>T (p.Ser163=)
c.639C>T (p.Ser213=)
c.612C>T (p.Ser204=)
gnomAD v4
7g.150958186G>CCA458871976KCNH2n.1622C>G
c.789C>G (p.Ser263=)
c.441C>G (p.Ser147=)
n.1012C>G
c.489C>G (p.Ser163=)
c.639C>G (p.Ser213=)
c.612C>G (p.Ser204=)
7g.150958186G>TCA458871978KCNH2n.1622C>A
c.789C>A (p.Ser263=)
c.441C>A (p.Ser147=)
n.1012C>A
c.489C>A (p.Ser163=)
c.639C>A (p.Ser213=)
c.612C>A (p.Ser204=)
gnomAD v4
7g.150958187delCA2685607591KCNH2n.1622del
c.789del (p.Ser264AlafsTer?)
c.441del (p.Ser148AlafsTer?)
n.1012del
c.489del (p.Ser164AlafsTer?)
c.639del (p.Ser214AlafsTer?)
c.612del (p.Ser205AlafsTer?)
gnomAD v4
7g.150958188_150958203delCA2573052838KCNH2n.1607_1622del
c.774_789del (p.Asp259AlafsTer?)
c.426_441del (p.Asp143AlafsTer?)
n.997_1012del
c.474_489del (p.Asp159AlafsTer?)
c.624_639del (p.Asp209AlafsTer?)
c.597_612del (p.Asp200AlafsTer?)
ClinVar dbSNP
7g.150958187G>ACA369862485KCNH2n.1621C>T
c.788C>T (p.Ser263Phe)
c.440C>T (p.Ser147Phe)
n.1011C>T
c.488C>T (p.Ser163Phe)
c.638C>T (p.Ser213Phe)
c.611C>T (p.Ser204Phe)
dbSNP gnomAD v4
7g.150958187G>CCA369862487KCNH2n.1621C>G
c.788C>G (p.Ser263Cys)
c.440C>G (p.Ser147Cys)
n.1011C>G
c.488C>G (p.Ser163Cys)
c.638C>G (p.Ser213Cys)
c.611C>G (p.Ser204Cys)
7g.150958187G=CA1752418036KCNH2n.1621C=
c.788C= (p.Ser263=)
c.440C= (p.Ser147=)
n.1011C=
c.488C= (p.Ser163=)
c.638C= (p.Ser213=)
c.611C= (p.Ser204=)
7g.150958187G>TCA369862489KCNH2n.1621C>A
c.788C>A (p.Ser263Tyr)
c.440C>A (p.Ser147Tyr)
n.1011C>A
c.488C>A (p.Ser163Tyr)
c.638C>A (p.Ser213Tyr)
c.611C>A (p.Ser204Tyr)
gnomAD v4
7g.150958188A>CCA369862492KCNH2n.1620T>G
c.787T>G (p.Ser263Ala)
c.439T>G (p.Ser147Ala)
n.1010T>G
c.487T>G (p.Ser163Ala)
c.637T>G (p.Ser213Ala)
c.610T>G (p.Ser204Ala)
7g.150958188A>GCA369862493KCNH2n.1620T>C
c.787T>C (p.Ser263Pro)
c.439T>C (p.Ser147Pro)
n.1010T>C
c.487T>C (p.Ser163Pro)
c.637T>C (p.Ser213Pro)
c.610T>C (p.Ser204Pro)
gnomAD v4
7g.150958188A>TCA369862490KCNH2n.1620T>A
c.787T>A (p.Ser263Thr)
c.439T>A (p.Ser147Thr)
n.1010T>A
c.487T>A (p.Ser163Thr)
c.637T>A (p.Ser213Thr)
c.610T>A (p.Ser204Thr)
gnomAD v4
7g.150958189G>ACA458871980KCNH2n.1619C>T
c.786C>T (p.Gly262=)
c.438C>T (p.Gly146=)
n.1009C>T
c.486C>T (p.Gly162=)
c.636C>T (p.Gly212=)
c.609C>T (p.Gly203=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958189G>CCA458871983KCNH2n.1619C>G
c.786C>G (p.Gly262=)
c.438C>G (p.Gly146=)
n.1009C>G
c.486C>G (p.Gly162=)
c.636C>G (p.Gly212=)
c.609C>G (p.Gly203=)
gnomAD v4
7g.150958189G=CA1752418041KCNH2n.1619C=
c.786C= (p.Gly262=)
c.438C= (p.Gly146=)
n.1009C=
c.486C= (p.Gly162=)
c.636C= (p.Gly212=)
c.609C= (p.Gly203=)
7g.150958189G>TCA040657KCNH2n.1619C>A
c.786C>A (p.Gly262=)
c.438C>A (p.Gly146=)
n.1009C>A
c.486C>A (p.Gly162=)
c.636C>A (p.Gly212=)
c.609C>A (p.Gly203=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958190C>ACA369862497KCNH2n.1618G>T
c.785G>T (p.Gly262Val)
c.437G>T (p.Gly146Val)
n.1008G>T
c.485G>T (p.Gly162Val)
c.635G>T (p.Gly212Val)
c.608G>T (p.Gly203Val)
gnomAD v4
7g.150958190C>GCA369862498KCNH2n.1618G>C
c.785G>C (p.Gly262Ala)
c.437G>C (p.Gly146Ala)
n.1008G>C
c.485G>C (p.Gly162Ala)
c.635G>C (p.Gly212Ala)
c.608G>C (p.Gly203Ala)
7g.150958190C>TCA369862500KCNH2n.1618G>A
c.785G>A (p.Gly262Asp)
c.437G>A (p.Gly146Asp)
n.1008G>A
c.485G>A (p.Gly162Asp)
c.635G>A (p.Gly212Asp)
c.608G>A (p.Gly203Asp)
gnomAD v4
7g.150958192delCA2685607606KCNH2n.1618del
c.785del (p.Gly262AlafsTer?)
c.437del (p.Gly146AlafsTer?)
n.1008del
c.485del (p.Gly162AlafsTer?)
c.635del (p.Gly212AlafsTer?)
c.608del (p.Gly203AlafsTer?)
gnomAD v4
7g.150958191C>ACA369862502KCNH2n.1617G>T
c.784G>T (p.Gly262Cys)
c.436G>T (p.Gly146Cys)
n.1007G>T
c.484G>T (p.Gly162Cys)
c.634G>T (p.Gly212Cys)
c.607G>T (p.Gly203Cys)
gnomAD v4
7g.150958191C>GCA369862503KCNH2n.1617G>C
c.784G>C (p.Gly262Arg)
c.436G>C (p.Gly146Arg)
n.1007G>C
c.484G>C (p.Gly162Arg)
c.634G>C (p.Gly212Arg)
c.607G>C (p.Gly203Arg)
gnomAD v4
7g.150958191C>TCA369862504KCNH2n.1617G>A
c.784G>A (p.Gly262Ser)
c.436G>A (p.Gly146Ser)
n.1007G>A
c.484G>A (p.Gly162Ser)
c.634G>A (p.Gly212Ser)
c.607G>A (p.Gly203Ser)
gnomAD v4
7g.150958192C>ACA458871989KCNH2n.1616G>T
c.783G>T (p.Ser261=)
c.435G>T (p.Ser145=)
n.1006G>T
c.483G>T (p.Ser161=)
c.633G>T (p.Ser211=)
c.606G>T (p.Ser202=)
gnomAD v4
7g.150958192C=CA1752418045KCNH2n.1616G=
c.783G= (p.Ser261=)
c.435G= (p.Ser145=)
n.1006G=
c.483G= (p.Ser161=)
c.633G= (p.Ser211=)
c.606G= (p.Ser202=)
7g.150958192C>GCA458871990KCNH2n.1616G>C
c.783G>C (p.Ser261=)
c.435G>C (p.Ser145=)
n.1006G>C
c.483G>C (p.Ser161=)
c.633G>C (p.Ser211=)
c.606G>C (p.Ser202=)
gnomAD v4
7g.150958192C>TCA040641KCNH2n.1616G>A
c.783G>A (p.Ser261=)
c.435G>A (p.Ser145=)
n.1006G>A
c.483G>A (p.Ser161=)
c.633G>A (p.Ser211=)
c.606G>A (p.Ser202=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150958193G>ACA369862507KCNH2n.1615C>T
c.782C>T (p.Ser261Leu)
c.434C>T (p.Ser145Leu)
n.1005C>T
c.482C>T (p.Ser161Leu)
c.632C>T (p.Ser211Leu)
c.605C>T (p.Ser202Leu)
dbSNP gnomAD v3 gnomAD v4
7g.150958193G>CCA369862508KCNH2n.1615C>G
c.782C>G (p.Ser261Trp)
c.434C>G (p.Ser145Trp)
n.1005C>G
c.482C>G (p.Ser161Trp)
c.632C>G (p.Ser211Trp)
c.605C>G (p.Ser202Trp)
gnomAD v4
7g.150958193G=CA1752418050KCNH2n.1615C=
c.782C= (p.Ser261=)
c.434C= (p.Ser145=)
n.1005C=
c.482C= (p.Ser161=)
c.632C= (p.Ser211=)
c.605C= (p.Ser202=)
7g.150958193G>TCA369862510KCNH2n.1615C>A
c.782C>A (p.Ser261Ter)
c.434C>A (p.Ser145Ter)
n.1005C>A
c.482C>A (p.Ser161Ter)
c.632C>A (p.Ser211Ter)
c.605C>A (p.Ser202Ter)
gnomAD v4
7g.150958194A>CCA369862514KCNH2n.1614T>G
c.781T>G (p.Ser261Ala)
c.433T>G (p.Ser145Ala)
n.1004T>G
c.481T>G (p.Ser161Ala)
c.631T>G (p.Ser211Ala)
c.604T>G (p.Ser202Ala)
7g.150958194A>GCA369862516KCNH2n.1614T>C
c.781T>C (p.Ser261Pro)
c.433T>C (p.Ser145Pro)
n.1004T>C
c.481T>C (p.Ser161Pro)
c.631T>C (p.Ser211Pro)
c.604T>C (p.Ser202Pro)
gnomAD v4
7g.150958194A>TCA369862512KCNH2n.1614T>A
c.781T>A (p.Ser261Thr)
c.433T>A (p.Ser145Thr)
n.1004T>A
c.481T>A (p.Ser161Thr)
c.631T>A (p.Ser211Thr)
c.604T>A (p.Ser202Thr)
gnomAD v4
7g.150958194_150958201delinsAGGCGTCGCA1752418054KCNH2n.1607_1614delinsCGACGCCT
c.774_781delinsCGACGCCT (p.Pro258=)
c.426_433delinsCGACGCCT (p.Pro142=)
n.997_1004delinsCGACGCCT
c.474_481delinsCGACGCCT (p.Pro158=)
c.624_631delinsCGACGCCT (p.Pro208=)
c.597_604delinsCGACGCCT (p.Pro199=)
7g.150958195G>ACA072095KCNH2n.1613C>T
c.780C>T (p.Ala260=)
c.432C>T (p.Ala144=)
n.1003C>T
c.480C>T (p.Ala160=)
c.630C>T (p.Ala210=)
c.603C>T (p.Ala201=)
gnomAD v4
7g.150958195G>CCA458872002KCNH2n.1613C>G
c.780C>G (p.Ala260=)
c.432C>G (p.Ala144=)
n.1003C>G
c.480C>G (p.Ala160=)
c.630C>G (p.Ala210=)
c.603C>G (p.Ala201=)
7g.150958195G>TCA458872003KCNH2n.1613C>A
c.780C>A (p.Ala260=)
c.432C>A (p.Ala144=)
n.1003C>A
c.480C>A (p.Ala160=)
c.630C>A (p.Ala210=)
c.603C>A (p.Ala201=)
gnomAD v4
7g.150958197_150958203delCA916080379KCNH2n.1607_1613del
c.774_780del (p.Asp259ArgfsTer?)
c.426_432del (p.Asp143ArgfsTer?)
n.997_1003del
c.474_480del (p.Asp159ArgfsTer?)
c.624_630del (p.Asp209ArgfsTer?)
c.597_603del (p.Asp200ArgfsTer?)
ClinVar dbSNP
7g.150958196G>ACA369862519KCNH2n.1612C>T
c.779C>T (p.Ala260Val)
c.431C>T (p.Ala144Val)
n.1002C>T
c.479C>T (p.Ala160Val)
c.629C>T (p.Ala210Val)
c.602C>T (p.Ala201Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958196G>CCA369862521KCNH2n.1612C>G
c.779C>G (p.Ala260Gly)
c.431C>G (p.Ala144Gly)
n.1002C>G
c.479C>G (p.Ala160Gly)
c.629C>G (p.Ala210Gly)
c.602C>G (p.Ala201Gly)
gnomAD v4
7g.150958196G=CA1752418058KCNH2n.1612C=
c.779C= (p.Ala260=)
c.431C= (p.Ala144=)
n.1002C=
c.479C= (p.Ala160=)
c.629C= (p.Ala210=)
c.602C= (p.Ala201=)
7g.150958196G>TCA369862522KCNH2n.1612C>A
c.779C>A (p.Ala260Asp)
c.431C>A (p.Ala144Asp)
n.1002C>A
c.479C>A (p.Ala160Asp)
c.629C>A (p.Ala210Asp)
c.602C>A (p.Ala201Asp)
gnomAD v4
7g.150958197C>ACA369862524KCNH2n.1611G>T
c.778G>T (p.Ala260Ser)
c.430G>T (p.Ala144Ser)
n.1001G>T
c.478G>T (p.Ala160Ser)
c.628G>T (p.Ala210Ser)
c.601G>T (p.Ala201Ser)
gnomAD v4
7g.150958197C=CA1752418061KCNH2n.1611G=
c.778G= (p.Ala260=)
c.430G= (p.Ala144=)
n.1001G=
c.478G= (p.Ala160=)
c.628G= (p.Ala210=)
c.601G= (p.Ala201=)
7g.150958197C>GCA369862526KCNH2n.1611G>C
c.778G>C (p.Ala260Pro)
c.430G>C (p.Ala144Pro)
n.1001G>C
c.478G>C (p.Ala160Pro)
c.628G>C (p.Ala210Pro)
c.601G>C (p.Ala201Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958197C>TCA369862528KCNH2n.1611G>A
c.778G>A (p.Ala260Thr)
c.430G>A (p.Ala144Thr)
n.1001G>A
c.478G>A (p.Ala160Thr)
c.628G>A (p.Ala210Thr)
c.601G>A (p.Ala201Thr)
ClinVar gnomAD v4
7g.150958198G>ACA169081241KCNH2n.1610C>T
c.777C>T (p.Asp259=)
c.429C>T (p.Asp143=)
n.1000C>T
c.477C>T (p.Asp159=)
c.627C>T (p.Asp209=)
c.600C>T (p.Asp200=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958198G>CCA369862530KCNH2n.1610C>G
c.777C>G (p.Asp259Glu)
c.429C>G (p.Asp143Glu)
n.1000C>G
c.477C>G (p.Asp159Glu)
c.627C>G (p.Asp209Glu)
c.600C>G (p.Asp200Glu)
dbSNP gnomAD v4
7g.150958198G=CA1752418066KCNH2n.1610C=
c.777C= (p.Asp259=)
c.429C= (p.Asp143=)
n.1000C=
c.477C= (p.Asp159=)
c.627C= (p.Asp209=)
c.600C= (p.Asp200=)
7g.150958198G>TCA369862531KCNH2n.1610C>A
c.777C>A (p.Asp259Glu)
c.429C>A (p.Asp143Glu)
n.1000C>A
c.477C>A (p.Asp159Glu)
c.627C>A (p.Asp209Glu)
c.600C>A (p.Asp200Glu)
gnomAD v4
7g.150958199T>ACA369862533KCNH2n.1609A>T
c.776A>T (p.Asp259Val)
c.428A>T (p.Asp143Val)
n.999A>T
c.476A>T (p.Asp159Val)
c.626A>T (p.Asp209Val)
c.599A>T (p.Asp200Val)
7g.150958199T>CCA369862535KCNH2n.1609A>G
c.776A>G (p.Asp259Gly)
c.428A>G (p.Asp143Gly)
n.999A>G
c.476A>G (p.Asp159Gly)
c.626A>G (p.Asp209Gly)
c.599A>G (p.Asp200Gly)
gnomAD v4
7g.150958199T>GCA369862537KCNH2n.1609A>C
c.776A>C (p.Asp259Ala)
c.428A>C (p.Asp143Ala)
n.999A>C
c.476A>C (p.Asp159Ala)
c.626A>C (p.Asp209Ala)
c.599A>C (p.Asp200Ala)
7g.150958200C>ACA369862539KCNH2n.1608G>T
c.775G>T (p.Asp259Tyr)
c.427G>T (p.Asp143Tyr)
n.998G>T
c.475G>T (p.Asp159Tyr)
c.625G>T (p.Asp209Tyr)
c.598G>T (p.Asp200Tyr)
gnomAD v4
7g.150958200C=CA1752418070KCNH2n.1608G=
c.775G= (p.Asp259=)
c.427G= (p.Asp143=)
n.998G=
c.475G= (p.Asp159=)
c.625G= (p.Asp209=)
c.598G= (p.Asp200=)
7g.150958200C>GCA369862541KCNH2n.1608G>C
c.775G>C (p.Asp259His)
c.427G>C (p.Asp143His)
n.998G>C
c.475G>C (p.Asp159His)
c.625G>C (p.Asp209His)
c.598G>C (p.Asp200His)
7g.150958200C>TCA008804KCNH2n.1608G>A
c.775G>A (p.Asp259Asn)
c.427G>A (p.Asp143Asn)
n.998G>A
c.475G>A (p.Asp159Asn)
c.625G>A (p.Asp209Asn)
c.598G>A (p.Asp200Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958202_150958217delCA2695208633KCNH2n.1593_1608del
c.760_775del (p.His254ThrfsTer?)
c.412_427del (p.His138ThrfsTer?)
n.983_998del
c.460_475del (p.His154ThrfsTer?)
c.610_625del (p.His204ThrfsTer?)
c.583_598del (p.His195ThrfsTer?)
7g.150958201G>ACA458872017KCNH2n.1607C>T
c.774C>T (p.Pro258=)
c.426C>T (p.Pro142=)
n.997C>T
c.474C>T (p.Pro158=)
c.624C>T (p.Pro208=)
c.597C>T (p.Pro199=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958201G>CCA458872016KCNH2n.1607C>G
c.774C>G (p.Pro258=)
c.426C>G (p.Pro142=)
n.997C>G
c.474C>G (p.Pro158=)
c.624C>G (p.Pro208=)
c.597C>G (p.Pro199=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958201G=CA1752418079KCNH2n.1607C=
c.774C= (p.Pro258=)
c.426C= (p.Pro142=)
n.997C=
c.474C= (p.Pro158=)
c.624C= (p.Pro208=)
c.597C= (p.Pro199=)
7g.150958201G>TCA458872014KCNH2n.1607C>A
c.774C>A (p.Pro258=)
c.426C>A (p.Pro142=)
n.997C>A
c.474C>A (p.Pro158=)
c.624C>A (p.Pro208=)
c.597C>A (p.Pro199=)
gnomAD v4
7g.150958204dupCA354046KCNH2n.1607dup
c.774dup (p.Asp259ArgfsTer?)
c.426dup (p.Asp143ArgfsTer?)
n.997dup
c.474dup (p.Asp159ArgfsTer?)
c.624dup (p.Asp209ArgfsTer?)
c.597dup (p.Asp200ArgfsTer?)
ClinVar dbSNP
7g.150958204delCA2685607666KCNH2n.1607del
c.774del (p.Asp259ThrfsTer?)
c.426del (p.Asp143ThrfsTer?)
n.997del
c.474del (p.Asp159ThrfsTer?)
c.624del (p.Asp209ThrfsTer?)
c.597del (p.Asp200ThrfsTer?)
gnomAD v4
7g.150958202G>ACA369862549KCNH2n.1606C>T
c.773C>T (p.Pro258Leu)
c.425C>T (p.Pro142Leu)
n.996C>T
c.473C>T (p.Pro158Leu)
c.623C>T (p.Pro208Leu)
c.596C>T (p.Pro199Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958202G>CCA369862545KCNH2n.1606C>G
c.773C>G (p.Pro258Arg)
c.425C>G (p.Pro142Arg)
n.996C>G
c.473C>G (p.Pro158Arg)
c.623C>G (p.Pro208Arg)
c.596C>G (p.Pro199Arg)
7g.150958202G=CA1752418083KCNH2n.1606C=
c.773C= (p.Pro258=)
c.425C= (p.Pro142=)
n.996C=
c.473C= (p.Pro158=)
c.623C= (p.Pro208=)
c.596C= (p.Pro199=)
7g.150958202G>TCA369862547KCNH2n.1606C>A
c.773C>A (p.Pro258His)
c.425C>A (p.Pro142His)
n.996C>A
c.473C>A (p.Pro158His)
c.623C>A (p.Pro208His)
c.596C>A (p.Pro199His)
gnomAD v4
7g.150958203G>ACA169081252KCNH2n.1605C>T
c.772C>T (p.Pro258Ser)
c.424C>T (p.Pro142Ser)
n.995C>T
c.472C>T (p.Pro158Ser)
c.622C>T (p.Pro208Ser)
c.595C>T (p.Pro199Ser)
ClinVar dbSNP gnomAD v4
7g.150958203G>CCA369862551KCNH2n.1605C>G
c.772C>G (p.Pro258Ala)
c.424C>G (p.Pro142Ala)
n.995C>G
c.472C>G (p.Pro158Ala)
c.622C>G (p.Pro208Ala)
c.595C>G (p.Pro199Ala)
gnomAD v4
7g.150958203G=CA1752418087KCNH2n.1605C=
c.772C= (p.Pro258=)
c.424C= (p.Pro142=)
n.995C=
c.472C= (p.Pro158=)
c.622C= (p.Pro208=)
c.595C= (p.Pro199=)
7g.150958203G>TCA369862553KCNH2n.1605C>A
c.772C>A (p.Pro258Thr)
c.424C>A (p.Pro142Thr)
n.995C>A
c.472C>A (p.Pro158Thr)
c.622C>A (p.Pro208Thr)
c.595C>A (p.Pro199Thr)
gnomAD v4
7g.150958204G>ACA458872033KCNH2n.1604C>T
c.771C>T (p.Asn257=)
c.423C>T (p.Asn141=)
n.994C>T
c.471C>T (p.Asn157=)
c.621C>T (p.Asn207=)
c.594C>T (p.Asn198=)
gnomAD v4
7g.150958204G>CCA369862555KCNH2n.1604C>G
c.771C>G (p.Asn257Lys)
c.423C>G (p.Asn141Lys)
n.994C>G
c.471C>G (p.Asn157Lys)
c.621C>G (p.Asn207Lys)
c.594C>G (p.Asn198Lys)
7g.150958204G>TCA369862557KCNH2n.1604C>A
c.771C>A (p.Asn257Lys)
c.423C>A (p.Asn141Lys)
n.994C>A
c.471C>A (p.Asn157Lys)
c.621C>A (p.Asn207Lys)
c.594C>A (p.Asn198Lys)
gnomAD v4
7g.150958205T>ACA369862559KCNH2n.1603A>T
c.770A>T (p.Asn257Ile)
c.422A>T (p.Asn141Ile)
n.993A>T
c.470A>T (p.Asn157Ile)
c.620A>T (p.Asn207Ile)
c.593A>T (p.Asn198Ile)
gnomAD v4
7g.150958205T>CCA369862560KCNH2n.1603A>G
c.770A>G (p.Asn257Ser)
c.422A>G (p.Asn141Ser)
n.993A>G
c.470A>G (p.Asn157Ser)
c.620A>G (p.Asn207Ser)
c.593A>G (p.Asn198Ser)
gnomAD v4
7g.150958205T>GCA369862562KCNH2n.1603A>C
c.770A>C (p.Asn257Thr)
c.422A>C (p.Asn141Thr)
n.993A>C
c.470A>C (p.Asn157Thr)
c.620A>C (p.Asn207Thr)
c.593A>C (p.Asn198Thr)
7g.150958206T>ACA369862564KCNH2n.1602A>T
c.769A>T (p.Asn257Tyr)
c.421A>T (p.Asn141Tyr)
n.992A>T
c.469A>T (p.Asn157Tyr)
c.619A>T (p.Asn207Tyr)
c.592A>T (p.Asn198Tyr)
7g.150958206T>CCA369862566KCNH2n.1602A>G
c.769A>G (p.Asn257Asp)
c.421A>G (p.Asn141Asp)
n.992A>G
c.469A>G (p.Asn157Asp)
c.619A>G (p.Asn207Asp)
c.592A>G (p.Asn198Asp)
gnomAD v4
7g.150958206T>GCA008794KCNH2n.1602A>C
c.769A>C (p.Asn257His)
c.421A>C (p.Asn141His)
n.992A>C
c.469A>C (p.Asn157His)
c.619A>C (p.Asn207His)
c.592A>C (p.Asn198His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958206T=CA1752418091KCNH2n.1602A=
c.769A= (p.Asn257=)
c.421A= (p.Asn141=)
n.992A=
c.469A= (p.Asn157=)
c.619A= (p.Asn207=)
c.592A= (p.Asn198=)
7g.150958206_150958207delinsTGCA072191KCNH2n.1601_1602delinsCA
c.768_769delinsCA (p.Leu256=)
c.420_421delinsCA (p.Leu140=)
n.991_992delinsCA
c.468_469delinsCA (p.Leu156=)
c.618_619delinsCA (p.Leu206=)
c.591_592delinsCA (p.Leu197=)
7g.150958207delCA2778425885KCNH2n.1601del
c.768del (p.Asn257ThrfsTer?)
c.420del (p.Asn141ThrfsTer?)
n.991del
c.468del (p.Asn157ThrfsTer?)
c.618del (p.Asn207ThrfsTer?)
c.591del (p.Asn198ThrfsTer?)
7g.150958207G>ACA458872034KCNH2n.1601C>T
c.768C>T (p.Leu256=)
c.420C>T (p.Leu140=)
n.991C>T
c.468C>T (p.Leu156=)
c.618C>T (p.Leu206=)
c.591C>T (p.Leu197=)
dbSNP gnomAD v4
7g.150958207G>CCA458872035KCNH2n.1601C>G
c.768C>G (p.Leu256=)
c.420C>G (p.Leu140=)
n.991C>G
c.468C>G (p.Leu156=)
c.618C>G (p.Leu206=)
c.591C>G (p.Leu197=)
7g.150958207G=CA1752418094KCNH2n.1601C=
c.768C= (p.Leu256=)
c.420C= (p.Leu140=)
n.991C=
c.468C= (p.Leu156=)
c.618C= (p.Leu206=)
c.591C= (p.Leu197=)
7g.150958207G>TCA458872036KCNH2n.1601C>A
c.768C>A (p.Leu256=)
c.420C>A (p.Leu140=)
n.991C>A
c.468C>A (p.Leu156=)
c.618C>A (p.Leu206=)
c.591C>A (p.Leu197=)
gnomAD v4
7g.150958208_150958221delCA2695208634KCNH2n.1588_1601del
c.755_768del (p.Arg252GlnfsTer?)
c.407_420del (p.Arg136GlnfsTer?)
n.978_991del
c.455_468del (p.Arg152GlnfsTer?)
c.605_618del (p.Arg202GlnfsTer?)
c.578_591del (p.Arg193GlnfsTer?)
7g.150958208A>CCA369862572KCNH2n.1600T>G
c.767T>G (p.Leu256Arg)
c.419T>G (p.Leu140Arg)
n.990T>G
c.467T>G (p.Leu156Arg)
c.617T>G (p.Leu206Arg)
c.590T>G (p.Leu197Arg)
7g.150958208A>GCA369862570KCNH2n.1600T>C
c.767T>C (p.Leu256Pro)
c.419T>C (p.Leu140Pro)
n.990T>C
c.467T>C (p.Leu156Pro)
c.617T>C (p.Leu206Pro)
c.590T>C (p.Leu197Pro)
ClinVar gnomAD v4
7g.150958208A>TCA369862568KCNH2n.1600T>A
c.767T>A (p.Leu256His)
c.419T>A (p.Leu140His)
n.990T>A
c.467T>A (p.Leu156His)
c.617T>A (p.Leu206His)
c.590T>A (p.Leu197His)
7g.150958208dupCA2697549696KCNH2n.1600dup
c.767dup (p.Asn257GlnfsTer?)
c.419dup (p.Asn141GlnfsTer?)
n.990dup
c.467dup (p.Asn157GlnfsTer?)
c.617dup (p.Asn207GlnfsTer?)
c.590dup (p.Asn198GlnfsTer?)
ClinVar
7g.150958209G>ACA369862574KCNH2n.1599C>T
c.766C>T (p.Leu256Phe)
c.418C>T (p.Leu140Phe)
n.989C>T
c.466C>T (p.Leu156Phe)
c.616C>T (p.Leu206Phe)
c.589C>T (p.Leu197Phe)
dbSNP gnomAD v3 gnomAD v4
7g.150958209G>CCA369862575KCNH2n.1599C>G
c.766C>G (p.Leu256Val)
c.418C>G (p.Leu140Val)
n.989C>G
c.466C>G (p.Leu156Val)
c.616C>G (p.Leu206Val)
c.589C>G (p.Leu197Val)
7g.150958209G=CA1752418096KCNH2n.1599C=
c.766C= (p.Leu256=)
c.418C= (p.Leu140=)
n.989C=
c.466C= (p.Leu156=)
c.616C= (p.Leu206=)
c.589C= (p.Leu197=)
7g.150958209G>TCA369862577KCNH2n.1599C>A
c.766C>A (p.Leu256Ile)
c.418C>A (p.Leu140Ile)
n.989C>A
c.466C>A (p.Leu156Ile)
c.616C>A (p.Leu206Ile)
c.589C>A (p.Leu197Ile)
gnomAD v4
7g.150958211_150958222delCA2685607687KCNH2n.1588_1599del
c.755_766del (p.Arg252_Ser255del)
c.407_418del (p.Arg136_Ser139del)
n.978_989del
c.455_466del (p.Arg152_Ser155del)
c.605_616del (p.Arg202_Ser205del)
c.578_589del (p.Arg193_Ser196del)
gnomAD v4
7g.150958210G>ACA458872039KCNH2n.1598C>T
c.765C>T (p.Ser255=)
c.417C>T (p.Ser139=)
n.988C>T
c.465C>T (p.Ser155=)
c.615C>T (p.Ser205=)
c.588C>T (p.Ser196=)
ClinVar dbSNP gnomAD v4
7g.150958210G>CCA369862579KCNH2n.1598C>G
c.765C>G (p.Ser255Arg)
c.417C>G (p.Ser139Arg)
n.988C>G
c.465C>G (p.Ser155Arg)
c.615C>G (p.Ser205Arg)
c.588C>G (p.Ser196Arg)
7g.150958210G>TCA369862581KCNH2n.1598C>A
c.765C>A (p.Ser255Arg)
c.417C>A (p.Ser139Arg)
n.988C>A
c.465C>A (p.Ser155Arg)
c.615C>A (p.Ser205Arg)
c.588C>A (p.Ser196Arg)
ClinVar gnomAD v4
7g.150958211C>ACA369862582KCNH2n.1597G>T
c.764G>T (p.Ser255Ile)
c.416G>T (p.Ser139Ile)
n.987G>T
c.464G>T (p.Ser155Ile)
c.614G>T (p.Ser205Ile)
c.587G>T (p.Ser196Ile)
gnomAD v4
7g.150958211C>GCA369862584KCNH2n.1597G>C
c.764G>C (p.Ser255Thr)
c.416G>C (p.Ser139Thr)
n.987G>C
c.464G>C (p.Ser155Thr)
c.614G>C (p.Ser205Thr)
c.587G>C (p.Ser196Thr)
gnomAD v4
7g.150958211C>TCA369862586KCNH2n.1597G>A
c.764G>A (p.Ser255Asn)
c.416G>A (p.Ser139Asn)
n.987G>A
c.464G>A (p.Ser155Asn)
c.614G>A (p.Ser205Asn)
c.587G>A (p.Ser196Asn)
gnomAD v4
7g.150958212T>ACA369862588KCNH2n.1596A>T
c.763A>T (p.Ser255Cys)
c.415A>T (p.Ser139Cys)
n.986A>T
c.463A>T (p.Ser155Cys)
c.613A>T (p.Ser205Cys)
c.586A>T (p.Ser196Cys)
7g.150958212T>CCA369862589KCNH2n.1596A>G
c.763A>G (p.Ser255Gly)
c.415A>G (p.Ser139Gly)
n.986A>G
c.463A>G (p.Ser155Gly)
c.613A>G (p.Ser205Gly)
c.586A>G (p.Ser196Gly)
gnomAD v4
7g.150958212T>GCA369862592KCNH2n.1596A>C
c.763A>C (p.Ser255Arg)
c.415A>C (p.Ser139Arg)
n.986A>C
c.463A>C (p.Ser155Arg)
c.613A>C (p.Ser205Arg)
c.586A>C (p.Ser196Arg)
7g.150958213G>ACA458872052KCNH2n.1595C>T
c.762C>T (p.His254=)
c.414C>T (p.His138=)
n.985C>T
c.462C>T (p.His154=)
c.612C>T (p.His204=)
c.585C>T (p.His195=)
gnomAD v4
7g.150958213G>CCA008780KCNH2n.1595C>G
c.762C>G (p.His254Gln)
c.414C>G (p.His138Gln)
n.985C>G
c.462C>G (p.His154Gln)
c.612C>G (p.His204Gln)
c.585C>G (p.His195Gln)
ClinVar dbSNP gnomAD v4
7g.150958213G=CA1752418101KCNH2n.1595C=
c.762C= (p.His254=)
c.414C= (p.His138=)
n.985C=
c.462C= (p.His154=)
c.612C= (p.His204=)
c.585C= (p.His195=)
7g.150958213G>TCA369862594KCNH2n.1595C>A
c.762C>A (p.His254Gln)
c.414C>A (p.His138Gln)
n.985C>A
c.462C>A (p.His154Gln)
c.612C>A (p.His204Gln)
c.585C>A (p.His195Gln)
gnomAD v4
7g.150958214T>ACA369862598KCNH2n.1594A>T
c.761A>T (p.His254Leu)
c.413A>T (p.His138Leu)
n.984A>T
c.461A>T (p.His154Leu)
c.611A>T (p.His204Leu)
c.584A>T (p.His195Leu)
gnomAD v4
7g.150958214T>CCA369862600KCNH2n.1594A>G
c.761A>G (p.His254Arg)
c.413A>G (p.His138Arg)
n.984A>G
c.461A>G (p.His154Arg)
c.611A>G (p.His204Arg)
c.584A>G (p.His195Arg)
dbSNP gnomAD v4
7g.150958214T>GCA369862597KCNH2n.1594A>C
c.761A>C (p.His254Pro)
c.413A>C (p.His138Pro)
n.984A>C
c.461A>C (p.His154Pro)
c.611A>C (p.His204Pro)
c.584A>C (p.His195Pro)
7g.150958214T=CA1752418108KCNH2n.1594A=
c.761A= (p.His254=)
c.413A= (p.His138=)
n.984A=
c.461A= (p.His154=)
c.611A= (p.His204=)
c.584A= (p.His195=)
7g.150958215G>ACA369862602KCNH2n.1593C>T
c.760C>T (p.His254Tyr)
c.412C>T (p.His138Tyr)
n.983C>T
c.460C>T (p.His154Tyr)
c.610C>T (p.His204Tyr)
c.583C>T (p.His195Tyr)
gnomAD v4
7g.150958215G>CCA369862603KCNH2n.1593C>G
c.760C>G (p.His254Asp)
c.412C>G (p.His138Asp)
n.983C>G
c.460C>G (p.His154Asp)
c.610C>G (p.His204Asp)
c.583C>G (p.His195Asp)
gnomAD v4
7g.150958215G>TCA369862605KCNH2n.1593C>A
c.760C>A (p.His254Asn)
c.412C>A (p.His138Asn)
n.983C>A
c.460C>A (p.His154Asn)
c.610C>A (p.His204Asn)
c.583C>A (p.His195Asn)
gnomAD v4
7g.150958217_150958218delCA2695208635KCNH2n.1592_1593del
c.759_760del (p.His254GlnfsTer?)
c.411_412del (p.His138GlnfsTer?)
n.982_983del
c.459_460del (p.His154GlnfsTer?)
c.609_610del (p.His204GlnfsTer?)
c.582_583del (p.His195GlnfsTer?)
7g.150958217_150958234dupCA2685607721KCNH2n.1576_1593dup
c.743_760dup (p.Ala253_His254insLeuProSerProArgAla)
c.395_412dup (p.Ala137_His138insLeuProSerProArgAla)
n.966_983dup
c.443_460dup (p.Ala153_His154insLeuProSerProArgAla)
c.593_610dup (p.Ala203_His204insLeuProSerProArgAla)
c.566_583dup (p.Ala194_His195insLeuProSerProArgAla)
gnomAD v4
7g.150958216C>ACA458872055KCNH2n.1592G>T
c.759G>T (p.Ala253=)
c.411G>T (p.Ala137=)
n.982G>T
c.459G>T (p.Ala153=)
c.609G>T (p.Ala203=)
c.582G>T (p.Ala194=)
gnomAD v4
7g.150958216C=CA1752418110KCNH2n.1592G=
c.759G= (p.Ala253=)
c.411G= (p.Ala137=)
n.982G=
c.459G= (p.Ala153=)
c.609G= (p.Ala203=)
c.582G= (p.Ala194=)
7g.150958216C>GCA458872056KCNH2n.1592G>C
c.759G>C (p.Ala253=)
c.411G>C (p.Ala137=)
n.982G>C
c.459G>C (p.Ala153=)
c.609G>C (p.Ala203=)
c.582G>C (p.Ala194=)
gnomAD v4
7g.150958216C>TCA458872058KCNH2n.1592G>A
c.759G>A (p.Ala253=)
c.411G>A (p.Ala137=)
n.982G>A
c.459G>A (p.Ala153=)
c.609G>A (p.Ala203=)
c.582G>A (p.Ala194=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958217G>ACA369862607KCNH2n.1591C>T
c.758C>T (p.Ala253Val)
c.410C>T (p.Ala137Val)
n.981C>T
c.458C>T (p.Ala153Val)
c.608C>T (p.Ala203Val)
c.581C>T (p.Ala194Val)
gnomAD v4
7g.150958217G>CCA008771KCNH2n.1591C>G
c.758C>G (p.Ala253Gly)
c.410C>G (p.Ala137Gly)
n.981C>G
c.458C>G (p.Ala153Gly)
c.608C>G (p.Ala203Gly)
c.581C>G (p.Ala194Gly)
ClinVar dbSNP
7g.150958217G=CA1752418113KCNH2n.1591C=
c.758C= (p.Ala253=)
c.410C= (p.Ala137=)
n.981C=
c.458C= (p.Ala153=)
c.608C= (p.Ala203=)
c.581C= (p.Ala194=)
7g.150958217G>TCA369862609KCNH2n.1591C>A
c.758C>A (p.Ala253Glu)
c.410C>A (p.Ala137Glu)
n.981C>A
c.458C>A (p.Ala153Glu)
c.608C>A (p.Ala203Glu)
c.581C>A (p.Ala194Glu)
gnomAD v4
7g.150958218C>ACA369862612KCNH2n.1590G>T
c.757G>T (p.Ala253Ser)
c.409G>T (p.Ala137Ser)
n.980G>T
c.457G>T (p.Ala153Ser)
c.607G>T (p.Ala203Ser)
c.580G>T (p.Ala194Ser)
gnomAD v4
7g.150958218C>GCA369862613KCNH2n.1590G>C
c.757G>C (p.Ala253Pro)
c.409G>C (p.Ala137Pro)
n.980G>C
c.457G>C (p.Ala153Pro)
c.607G>C (p.Ala203Pro)
c.580G>C (p.Ala194Pro)
7g.150958218C>TCA369862615KCNH2n.1590G>A
c.757G>A (p.Ala253Thr)
c.409G>A (p.Ala137Thr)
n.980G>A
c.457G>A (p.Ala153Thr)
c.607G>A (p.Ala203Thr)
c.580G>A (p.Ala194Thr)
gnomAD v4
7g.150958220dupCA2739278348KCNH2n.1590dup
c.757dup (p.Ala253GlyfsTer?)
c.409dup (p.Ala137GlyfsTer?)
n.980dup
c.457dup (p.Ala153GlyfsTer?)
c.607dup (p.Ala203GlyfsTer?)
c.580dup (p.Ala194GlyfsTer?)
ClinVar
7g.150958220delCA2685607731KCNH2n.1590del
c.757del (p.Ala253ArgfsTer?)
c.409del (p.Ala137ArgfsTer?)
n.980del
c.457del (p.Ala153ArgfsTer?)
c.607del (p.Ala203ArgfsTer?)
c.580del (p.Ala194ArgfsTer?)
gnomAD v4
7g.150958219C>ACA458872071KCNH2n.1589G>T
c.756G>T (p.Arg252=)
c.408G>T (p.Arg136=)
n.979G>T
c.456G>T (p.Arg152=)
c.606G>T (p.Arg202=)
c.579G>T (p.Arg193=)
gnomAD v4
7g.150958219C>GCA458872072KCNH2n.1589G>C
c.756G>C (p.Arg252=)
c.408G>C (p.Arg136=)
n.979G>C
c.456G>C (p.Arg152=)
c.606G>C (p.Arg202=)
c.579G>C (p.Arg193=)
7g.150958219C>TCA458872074KCNH2n.1589G>A
c.756G>A (p.Arg252=)
c.408G>A (p.Arg136=)
n.979G>A
c.456G>A (p.Arg152=)
c.606G>A (p.Arg202=)
c.579G>A (p.Arg193=)
ClinVar dbSNP gnomAD v4
7g.150958219_150958221delCA2695208636KCNH2n.1587_1589del
c.754_756del (p.Arg252del)
c.406_408del (p.Arg136del)
n.977_979del
c.454_456del (p.Arg152del)
c.604_606del (p.Arg202del)
c.577_579del (p.Arg193del)
7g.150958220C>ACA369862617KCNH2n.1588G>T
c.755G>T (p.Arg252Leu)
c.407G>T (p.Arg136Leu)
n.978G>T
c.455G>T (p.Arg152Leu)
c.605G>T (p.Arg202Leu)
c.578G>T (p.Arg193Leu)
gnomAD v4
7g.150958220C=CA1752418117KCNH2n.1588G=
c.755G= (p.Arg252=)
c.407G= (p.Arg136=)
n.978G=
c.455G= (p.Arg152=)
c.605G= (p.Arg202=)
c.578G= (p.Arg193=)
7g.150958220C>GCA369862618KCNH2n.1588G>C
c.755G>C (p.Arg252Pro)
c.407G>C (p.Arg136Pro)
n.978G>C
c.455G>C (p.Arg152Pro)
c.605G>C (p.Arg202Pro)
c.578G>C (p.Arg193Pro)
gnomAD v4
7g.150958220C>TCA008760KCNH2n.1588G>A
c.755G>A (p.Arg252Gln)
c.407G>A (p.Arg136Gln)
n.978G>A
c.455G>A (p.Arg152Gln)
c.605G>A (p.Arg202Gln)
c.578G>A (p.Arg193Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958221G>ACA169081266KCNH2n.1587C>T
c.754C>T (p.Arg252Trp)
c.406C>T (p.Arg136Trp)
n.977C>T
c.454C>T (p.Arg152Trp)
c.604C>T (p.Arg202Trp)
c.577C>T (p.Arg193Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958221G>CCA008755KCNH2n.1587C>G
c.754C>G (p.Arg252Gly)
c.406C>G (p.Arg136Gly)
n.977C>G
c.454C>G (p.Arg152Gly)
c.604C>G (p.Arg202Gly)
c.577C>G (p.Arg193Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958221G=CA1752418128KCNH2n.1587C=
c.754C= (p.Arg252=)
c.406C= (p.Arg136=)
n.977C=
c.454C= (p.Arg152=)
c.604C= (p.Arg202=)
c.577C= (p.Arg193=)
7g.150958221G>TCA169081268KCNH2n.1587C>A
c.754C>A (p.Arg252=)
c.406C>A (p.Arg136=)
n.977C>A
c.454C>A (p.Arg152=)
c.604C>A (p.Arg202=)
c.577C>A (p.Arg193=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958224delCA2685607759KCNH2n.1587del
c.754del (p.Arg252GlyfsTer?)
c.406del (p.Arg136GlyfsTer?)
n.977del
c.454del (p.Arg152GlyfsTer?)
c.604del (p.Arg202GlyfsTer?)
c.577del (p.Arg193GlyfsTer?)
gnomAD v4
7g.150958223_150958242dupCA305302KCNH2n.1568_1587dup
c.735_754dup (p.Arg252ProfsTer?)
c.387_406dup (p.Arg136ProfsTer?)
n.958_977dup
c.435_454dup (p.Arg152ProfsTer?)
c.585_604dup (p.Arg202ProfsTer?)
c.558_577dup (p.Arg193ProfsTer?)
ClinVar dbSNP

Number of alleles fetched