Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
7g.150958237_150958249delCA2695208637KCNH2n.1563_1575del
c.730_742del (p.Ala244SerfsTer?)
c.382_394del (p.Ala128SerfsTer?)
n.953_965del
c.430_442del (p.Ala144SerfsTer?)
c.580_592del (p.Ala194SerfsTer?)
c.553_565del (p.Ala185SerfsTer?)
7g.150958239C>ACA16605738KCNH2n.1569G>T
c.736G>T (p.Gly246Cys)
c.388G>T (p.Gly130Cys)
n.959G>T
c.436G>T (p.Gly146Cys)
c.586G>T (p.Gly196Cys)
c.559G>T (p.Gly187Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958239C=CA1752418155KCNH2n.1569G=
c.736G= (p.Gly246=)
c.388G= (p.Gly130=)
n.959G=
c.436G= (p.Gly146=)
c.586G= (p.Gly196=)
c.559G= (p.Gly187=)
7g.150958239C>GCA369862679KCNH2n.1569G>C
c.736G>C (p.Gly246Arg)
c.388G>C (p.Gly130Arg)
n.959G>C
c.436G>C (p.Gly146Arg)
c.586G>C (p.Gly196Arg)
c.559G>C (p.Gly187Arg)
 gnomAD v4
7g.150958239C>TCA369862680KCNH2n.1569G>A
c.736G>A (p.Gly246Ser)
c.388G>A (p.Gly130Ser)
n.959G>A
c.436G>A (p.Gly146Ser)
c.586G>A (p.Gly196Ser)
c.559G>A (p.Gly187Ser)
 dbSNP gnomAD v4
7g.150958240G>ACA072040KCNH2n.1568C>T
c.735C>T (p.Pro245=)
c.387C>T (p.Pro129=)
n.958C>T
c.435C>T (p.Pro145=)
c.585C>T (p.Pro195=)
c.558C>T (p.Pro186=)
 ClinVar dbSNP gnomAD v4
7g.150958240G>CCA458872137KCNH2n.1568C>G
c.735C>G (p.Pro245=)
c.387C>G (p.Pro129=)
n.958C>G
c.435C>G (p.Pro145=)
c.585C>G (p.Pro195=)
c.558C>G (p.Pro186=)
 gnomAD v4
7g.150958240G=CA1752418159KCNH2n.1568C=
c.735C= (p.Pro245=)
c.387C= (p.Pro129=)
n.958C=
c.435C= (p.Pro145=)
c.585C= (p.Pro195=)
c.558C= (p.Pro186=)
7g.150958240G>TCA458872138KCNH2n.1568C>A
c.735C>A (p.Pro245=)
c.387C>A (p.Pro129=)
n.958C>A
c.435C>A (p.Pro145=)
c.585C>A (p.Pro195=)
c.558C>A (p.Pro186=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958242dupCA2580077691KCNH2n.1568dup
c.735dup (p.Gly246ArgfsTer?)
c.387dup (p.Gly130ArgfsTer?)
n.958dup
c.435dup (p.Gly146ArgfsTer?)
c.585dup (p.Gly196ArgfsTer?)
c.558dup (p.Gly187ArgfsTer?)
 ClinVar
7g.150958241_150958242dupCA2695208638KCNH2n.1567_1568dup
c.734_735dup (p.Gly246ProfsTer?)
c.386_387dup (p.Gly130ProfsTer?)
n.957_958dup
c.434_435dup (p.Gly146ProfsTer?)
c.584_585dup (p.Gly196ProfsTer?)
c.557_558dup (p.Gly187ProfsTer?)
7g.150958242delCA2685607855KCNH2n.1568del
c.735del (p.Gly246AlafsTer?)
c.387del (p.Gly130AlafsTer?)
n.958del
c.435del (p.Gly146AlafsTer?)
c.585del (p.Gly196AlafsTer?)
c.558del (p.Gly187AlafsTer?)
 gnomAD v4
7g.150958241G>ACA369862681KCNH2n.1567C>T
c.734C>T (p.Pro245Leu)
c.386C>T (p.Pro129Leu)
n.957C>T
c.434C>T (p.Pro145Leu)
c.584C>T (p.Pro195Leu)
c.557C>T (p.Pro186Leu)
 gnomAD v4
7g.150958241G>CCA369862682KCNH2n.1567C>G
c.734C>G (p.Pro245Arg)
c.386C>G (p.Pro129Arg)
n.957C>G
c.434C>G (p.Pro145Arg)
c.584C>G (p.Pro195Arg)
c.557C>G (p.Pro186Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958241G=CA1752418161KCNH2n.1567C=
c.734C= (p.Pro245=)
c.386C= (p.Pro129=)
n.957C=
c.434C= (p.Pro145=)
c.584C= (p.Pro195=)
c.557C= (p.Pro186=)
7g.150958241G>TCA369862683KCNH2n.1567C>A
c.734C>A (p.Pro245His)
c.386C>A (p.Pro129His)
n.957C>A
c.434C>A (p.Pro145His)
c.584C>A (p.Pro195His)
c.557C>A (p.Pro186His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958242G>ACA369862686KCNH2n.1566C>T
c.733C>T (p.Pro245Ser)
c.385C>T (p.Pro129Ser)
n.956C>T
c.433C>T (p.Pro145Ser)
c.583C>T (p.Pro195Ser)
c.556C>T (p.Pro186Ser)
 gnomAD v4
7g.150958242G>CCA369862685KCNH2n.1566C>G
c.733C>G (p.Pro245Ala)
c.385C>G (p.Pro129Ala)
n.956C>G
c.433C>G (p.Pro145Ala)
c.583C>G (p.Pro195Ala)
c.556C>G (p.Pro186Ala)
7g.150958242G>TCA369862684KCNH2n.1566C>A
c.733C>A (p.Pro245Thr)
c.385C>A (p.Pro129Thr)
n.956C>A
c.433C>A (p.Pro145Thr)
c.583C>A (p.Pro195Thr)
c.556C>A (p.Pro186Thr)
 gnomAD v4
7g.150958242_150958243delinsGCCA1752418163KCNH2n.1565_1566delinsGC
c.732_733delinsGC (p.Ala244=)
c.384_385delinsGC (p.Ala128=)
n.955_956delinsGC
c.432_433delinsGC (p.Ala144=)
c.582_583delinsGC (p.Ala194=)
c.555_556delinsGC (p.Ala185=)
7g.150958243delCA008725KCNH2n.1565del
c.732del (p.Gly246AlafsTer?)
c.384del (p.Gly130AlafsTer?)
n.955del
c.432del (p.Gly146AlafsTer?)
c.582del (p.Gly196AlafsTer?)
c.555del (p.Gly187AlafsTer?)
 ClinVar dbSNP
7g.150958243C>ACA458872144KCNH2n.1565G>T
c.732G>T (p.Ala244=)
c.384G>T (p.Ala128=)
n.955G>T
c.432G>T (p.Ala144=)
c.582G>T (p.Ala194=)
c.555G>T (p.Ala185=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958243C=CA1752418166KCNH2n.1565G=
c.732G= (p.Ala244=)
c.384G= (p.Ala128=)
n.955G=
c.432G= (p.Ala144=)
c.582G= (p.Ala194=)
c.555G= (p.Ala185=)
7g.150958243C>GCA458872147KCNH2n.1565G>C
c.732G>C (p.Ala244=)
c.384G>C (p.Ala128=)
n.955G>C
c.432G>C (p.Ala144=)
c.582G>C (p.Ala194=)
c.555G>C (p.Ala185=)
 gnomAD v4
7g.150958243C>TCA458872148KCNH2n.1565G>A
c.732G>A (p.Ala244=)
c.384G>A (p.Ala128=)
n.955G>A
c.432G>A (p.Ala144=)
c.582G>A (p.Ala194=)
c.555G>A (p.Ala185=)
 dbSNP gnomAD v3 gnomAD v4
7g.150958244G>ACA16612195KCNH2n.1564C>T
c.731C>T (p.Ala244Val)
c.383C>T (p.Ala128Val)
n.954C>T
c.431C>T (p.Ala144Val)
c.581C>T (p.Ala194Val)
c.554C>T (p.Ala185Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150958244G>CCA040295KCNH2n.1564C>G
c.731C>G (p.Ala244Gly)
c.383C>G (p.Ala128Gly)
n.954C>G
c.431C>G (p.Ala144Gly)
c.581C>G (p.Ala194Gly)
c.554C>G (p.Ala185Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958244G=CA1752418173KCNH2n.1564C=
c.731C= (p.Ala244=)
c.383C= (p.Ala128=)
n.954C=
c.431C= (p.Ala144=)
c.581C= (p.Ala194=)
c.554C= (p.Ala185=)
7g.150958244G>TCA369862687KCNH2n.1564C>A
c.731C>A (p.Ala244Glu)
c.383C>A (p.Ala128Glu)
n.954C>A
c.431C>A (p.Ala144Glu)
c.581C>A (p.Ala194Glu)
c.554C>A (p.Ala185Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958245C>ACA369862688KCNH2n.1563G>T
c.730G>T (p.Ala244Ser)
c.382G>T (p.Ala128Ser)
n.953G>T
c.430G>T (p.Ala144Ser)
c.580G>T (p.Ala194Ser)
c.553G>T (p.Ala185Ser)
 gnomAD v4
7g.150958245C=CA1752418181KCNH2n.1563G=
c.730G= (p.Ala244=)
c.382G= (p.Ala128=)
n.953G=
c.430G= (p.Ala144=)
c.580G= (p.Ala194=)
c.553G= (p.Ala185=)
7g.150958245C>GCA369862689KCNH2n.1563G>C
c.730G>C (p.Ala244Pro)
c.382G>C (p.Ala128Pro)
n.953G>C
c.430G>C (p.Ala144Pro)
c.580G>C (p.Ala194Pro)
c.553G>C (p.Ala185Pro)
7g.150958245C>TCA369862690KCNH2n.1563G>A
c.730G>A (p.Ala244Thr)
c.382G>A (p.Ala128Thr)
n.953G>A
c.430G>A (p.Ala144Thr)
c.580G>A (p.Ala194Thr)
c.553G>A (p.Ala185Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958246G>ACA336005KCNH2n.1562C>T
c.729C>T (p.Ser243=)
c.381C>T (p.Ser127=)
n.952C>T
c.429C>T (p.Ser143=)
c.579C>T (p.Ser193=)
c.552C>T (p.Ser184=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958246G>CCA369862691KCNH2n.1562C>G
c.729C>G (p.Ser243Arg)
c.381C>G (p.Ser127Arg)
n.952C>G
c.429C>G (p.Ser143Arg)
c.579C>G (p.Ser193Arg)
c.552C>G (p.Ser184Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958246G=CA1752418185KCNH2n.1562C=
c.729C= (p.Ser243=)
c.381C= (p.Ser127=)
n.952C=
c.429C= (p.Ser143=)
c.579C= (p.Ser193=)
c.552C= (p.Ser184=)
7g.150958246G>TCA369862692KCNH2n.1562C>A
c.729C>A (p.Ser243Arg)
c.381C>A (p.Ser127Arg)
n.952C>A
c.429C>A (p.Ser143Arg)
c.579C>A (p.Ser193Arg)
c.552C>A (p.Ser184Arg)
 ClinVar gnomAD v4
7g.150958247C>ACA369862693KCNH2n.1561G>T
c.728G>T (p.Ser243Ile)
c.380G>T (p.Ser127Ile)
n.951G>T
c.428G>T (p.Ser143Ile)
c.578G>T (p.Ser193Ile)
c.551G>T (p.Ser184Ile)
 gnomAD v4
7g.150958247C=CA1752418190KCNH2n.1561G=
c.728G= (p.Ser243=)
c.380G= (p.Ser127=)
n.951G=
c.428G= (p.Ser143=)
c.578G= (p.Ser193=)
c.551G= (p.Ser184=)
7g.150958247C>GCA369862694KCNH2n.1561G>C
c.728G>C (p.Ser243Thr)
c.380G>C (p.Ser127Thr)
n.951G>C
c.428G>C (p.Ser143Thr)
c.578G>C (p.Ser193Thr)
c.551G>C (p.Ser184Thr)
7g.150958247C>TCA369862695KCNH2n.1561G>A
c.728G>A (p.Ser243Asn)
c.380G>A (p.Ser127Asn)
n.951G>A
c.428G>A (p.Ser143Asn)
c.578G>A (p.Ser193Asn)
c.551G>A (p.Ser184Asn)
 dbSNP gnomAD v3 gnomAD v4
7g.150958248T>ACA369862698KCNH2n.1560A>T
c.727A>T (p.Ser243Cys)
c.379A>T (p.Ser127Cys)
n.950A>T
c.427A>T (p.Ser143Cys)
c.577A>T (p.Ser193Cys)
c.550A>T (p.Ser184Cys)
7g.150958248T>CCA369862696KCNH2n.1560A>G
c.727A>G (p.Ser243Gly)
c.379A>G (p.Ser127Gly)
n.950A>G
c.427A>G (p.Ser143Gly)
c.577A>G (p.Ser193Gly)
c.550A>G (p.Ser184Gly)
 gnomAD v4
7g.150958248T>GCA369862697KCNH2n.1560A>C
c.727A>C (p.Ser243Arg)
c.379A>C (p.Ser127Arg)
n.950A>C
c.427A>C (p.Ser143Arg)
c.577A>C (p.Ser193Arg)
c.550A>C (p.Ser184Arg)
7g.150958249G>ACA458872167KCNH2n.1559C>T
c.726C>T (p.Arg242=)
c.378C>T (p.Arg126=)
n.949C>T
c.426C>T (p.Arg142=)
c.576C>T (p.Arg192=)
c.549C>T (p.Arg183=)
 ClinVar gnomAD v4
7g.150958249G>CCA458872166KCNH2n.1559C>G
c.726C>G (p.Arg242=)
c.378C>G (p.Arg126=)
n.949C>G
c.426C>G (p.Arg142=)
c.576C>G (p.Arg192=)
c.549C>G (p.Arg183=)
7g.150958249G>TCA458872165KCNH2n.1559C>A
c.726C>A (p.Arg242=)
c.378C>A (p.Arg126=)
n.949C>A
c.426C>A (p.Arg142=)
c.576C>A (p.Arg192=)
c.549C>A (p.Arg183=)
 gnomAD v4
7g.150958249_150958250delinsGCCA1752418195KCNH2n.1558_1559delinsGC
c.725_726delinsGC (p.Arg242=)
c.377_378delinsGC (p.Arg126=)
n.948_949delinsGC
c.425_426delinsGC (p.Arg142=)
c.575_576delinsGC (p.Arg192=)
c.548_549delinsGC (p.Arg183=)
7g.150958249_150958250delinsTTCA658656014KCNH2n.1558_1559delinsAA
c.725_726delinsAA (p.Arg242Gln)
c.377_378delinsAA (p.Arg126Gln)
n.948_949delinsAA
c.425_426delinsAA (p.Arg142Gln)
c.575_576delinsAA (p.Arg192Gln)
c.548_549delinsAA (p.Arg183Gln)
 ClinVar dbSNP

Number of alleles fetched