Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2572952T>ACA379131643KCNQ1c.626T>A (p.Phe209Tyr)
c.478-10483T>A (n.478-10483T>A)
c.887T>A (p.Phe296Tyr)
c.506T>A (p.Phe169Tyr)
c.124-10483T>A (n.124-10483T>A)
11g.2572952T>CCA008541KCNQ1c.626T>C (p.Phe209Ser)
c.478-10483T>C (n.478-10483T>C)
c.887T>C (p.Phe296Ser)
c.506T>C (p.Phe169Ser)
c.124-10483T>C (n.124-10483T>C)
 ClinVar dbSNP
11g.2572952T>GCA379131646KCNQ1c.626T>G (p.Phe209Cys)
c.478-10483T>G (n.478-10483T>G)
c.887T>G (p.Phe296Cys)
c.506T>G (p.Phe169Cys)
c.124-10483T>G (n.124-10483T>G)
11g.2572952T=CA1948212235KCNQ1c.626T= (p.Phe209=)
c.478-10483T= (n.478-10483T=)
c.887T= (p.Phe296=)
c.506T= (p.Phe169=)
c.124-10483T= (n.124-10483T=)
11g.2572953C>ACA379131652KCNQ1c.627C>A (p.Phe209Leu)
c.478-10482C>A (n.478-10482C>A)
c.888C>A (p.Phe296Leu)
c.507C>A (p.Phe169Leu)
c.124-10482C>A (n.124-10482C>A)
11g.2572953C=CA1948212242KCNQ1c.627C= (p.Phe209=)
c.478-10482C= (n.478-10482C=)
c.888C= (p.Phe296=)
c.507C= (p.Phe169=)
c.124-10482C= (n.124-10482C=)
11g.2572953C>GCA379131651KCNQ1c.627C>G (p.Phe209Leu)
c.478-10482C>G (n.478-10482C>G)
c.888C>G (p.Phe296Leu)
c.507C>G (p.Phe169Leu)
c.124-10482C>G (n.124-10482C>G)
11g.2572953C>TCA041199KCNQ1c.627C>T (p.Phe209=)
c.478-10482C>T (n.478-10482C>T)
c.888C>T (p.Phe296=)
c.507C>T (p.Phe169=)
c.124-10482C>T (n.124-10482C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2572954G>ACA008547KCNQ1c.628G>A (p.Gly210Ser)
c.478-10481G>A (n.478-10481G>A)
c.889G>A (p.Gly297Ser)
c.508G>A (p.Gly170Ser)
c.124-10481G>A (n.124-10481G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572954G>CCA041239KCNQ1c.628G>C (p.Gly210Arg)
c.478-10481G>C (n.478-10481G>C)
c.889G>C (p.Gly297Arg)
c.508G>C (p.Gly170Arg)
c.124-10481G>C (n.124-10481G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572954G=CA1948212251KCNQ1c.628G= (p.Gly210=)
c.478-10481G= (n.478-10481G=)
c.889G= (p.Gly297=)
c.508G= (p.Gly170=)
c.124-10481G= (n.124-10481G=)
11g.2572954G>TCA379131655KCNQ1c.628G>T (p.Gly210Cys)
c.478-10481G>T (n.478-10481G>T)
c.889G>T (p.Gly297Cys)
c.508G>T (p.Gly170Cys)
c.124-10481G>T (n.124-10481G>T)
11g.2572955G>ACA041258KCNQ1c.629G>A (p.Gly210Asp)
c.478-10480G>A (n.478-10480G>A)
c.890G>A (p.Gly297Asp)
c.509G>A (p.Gly170Asp)
c.124-10480G>A (n.124-10480G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572955G>CCA379131658KCNQ1c.629G>C (p.Gly210Ala)
c.478-10480G>C (n.478-10480G>C)
c.890G>C (p.Gly297Ala)
c.509G>C (p.Gly170Ala)
c.124-10480G>C (n.124-10480G>C)
11g.2572955G=CA1948212260KCNQ1c.629G= (p.Gly210=)
c.478-10480G= (n.478-10480G=)
c.890G= (p.Gly297=)
c.509G= (p.Gly170=)
c.124-10480G= (n.124-10480G=)
11g.2572955G>TCA379131660KCNQ1c.629G>T (p.Gly210Val)
c.478-10480G>T (n.478-10480G>T)
c.890G>T (p.Gly297Val)
c.509G>T (p.Gly170Val)
c.124-10480G>T (n.124-10480G>T)
11g.2572956C>ACA041271KCNQ1c.630C>A (p.Gly210=)
c.478-10479C>A (n.478-10479C>A)
c.891C>A (p.Gly297=)
c.510C>A (p.Gly170=)
c.124-10479C>A (n.124-10479C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572956C=CA1948212263KCNQ1c.630C= (p.Gly210=)
c.478-10479C= (n.478-10479C=)
c.891C= (p.Gly297=)
c.510C= (p.Gly170=)
c.124-10479C= (n.124-10479C=)
11g.2572956C>GCA472038191KCNQ1c.630C>G (p.Gly210=)
c.478-10479C>G (n.478-10479C>G)
c.891C>G (p.Gly297=)
c.510C>G (p.Gly170=)
c.124-10479C>G (n.124-10479C>G)
11g.2572956C>TCA472038192KCNQ1c.630C>T (p.Gly210=)
c.478-10479C>T (n.478-10479C>T)
c.891C>T (p.Gly297=)
c.510C>T (p.Gly170=)
c.124-10479C>T (n.124-10479C>T)
11g.2572957A>CCA379131663KCNQ1c.631A>C (p.Ser211Arg)
c.478-10478A>C (n.478-10478A>C)
c.892A>C (p.Ser298Arg)
c.511A>C (p.Ser171Arg)
c.124-10478A>C (n.124-10478A>C)
11g.2572957A>GCA379131664KCNQ1c.631A>G (p.Ser211Gly)
c.478-10478A>G (n.478-10478A>G)
c.892A>G (p.Ser298Gly)
c.511A>G (p.Ser171Gly)
c.124-10478A>G (n.124-10478A>G)
11g.2572957A>TCA379131666KCNQ1c.631A>T (p.Ser211Cys)
c.478-10478A>T (n.478-10478A>T)
c.892A>T (p.Ser298Cys)
c.511A>T (p.Ser171Cys)
c.124-10478A>T (n.124-10478A>T)
11g.2572958G>ACA379131669KCNQ1c.632G>A (p.Ser211Asn)
c.478-10477G>A (n.478-10477G>A)
c.893G>A (p.Ser298Asn)
c.512G>A (p.Ser171Asn)
c.124-10477G>A (n.124-10477G>A)
 dbSNP gnomAD v2
11g.2572958G>CCA379131671KCNQ1c.632G>C (p.Ser211Thr)
c.478-10477G>C (n.478-10477G>C)
c.893G>C (p.Ser298Thr)
c.512G>C (p.Ser171Thr)
c.124-10477G>C (n.124-10477G>C)
 gnomAD v4
11g.2572958G=CA1948212271KCNQ1c.632G= (p.Ser211=)
c.478-10477G= (n.478-10477G=)
c.893G= (p.Ser298=)
c.512G= (p.Ser171=)
c.124-10477G= (n.124-10477G=)
11g.2572958G>TCA379131674KCNQ1c.632G>T (p.Ser211Ile)
c.478-10477G>T (n.478-10477G>T)
c.893G>T (p.Ser298Ile)
c.512G>T (p.Ser171Ile)
c.124-10477G>T (n.124-10477G>T)
11g.2572959C>ACA379131678KCNQ1c.633C>A (p.Ser211Arg)
c.478-10476C>A (n.478-10476C>A)
c.894C>A (p.Ser298Arg)
c.513C>A (p.Ser171Arg)
c.124-10476C>A (n.124-10476C>A)
 ClinVar
11g.2572959C=CA1948212276KCNQ1c.633C= (p.Ser211=)
c.478-10476C= (n.478-10476C=)
c.894C= (p.Ser298=)
c.513C= (p.Ser171=)
c.124-10476C= (n.124-10476C=)
11g.2572959C>GCA379131676KCNQ1c.633C>G (p.Ser211Arg)
c.478-10476C>G (n.478-10476C>G)
c.894C>G (p.Ser298Arg)
c.513C>G (p.Ser171Arg)
c.124-10476C>G (n.124-10476C>G)
 dbSNP
11g.2572959C>TCA472038193KCNQ1c.633C>T (p.Ser211=)
c.478-10476C>T (n.478-10476C>T)
c.894C>T (p.Ser298=)
c.513C>T (p.Ser171=)
c.124-10476C>T (n.124-10476C>T)
11g.2572960T>ACA379131681KCNQ1c.634T>A (p.Tyr212Asn)
c.478-10475T>A (n.478-10475T>A)
c.895T>A (p.Tyr299Asn)
c.514T>A (p.Tyr172Asn)
c.124-10475T>A (n.124-10475T>A)
11g.2572960T>CCA379131682KCNQ1c.634T>C (p.Tyr212His)
c.478-10475T>C (n.478-10475T>C)
c.895T>C (p.Tyr299His)
c.514T>C (p.Tyr172His)
c.124-10475T>C (n.124-10475T>C)
11g.2572960T>GCA379131684KCNQ1c.634T>G (p.Tyr212Asp)
c.478-10475T>G (n.478-10475T>G)
c.895T>G (p.Tyr299Asp)
c.514T>G (p.Tyr172Asp)
c.124-10475T>G (n.124-10475T>G)
11g.2572961A>CCA379131686KCNQ1c.635A>C (p.Tyr212Ser)
c.478-10474A>C (n.478-10474A>C)
c.896A>C (p.Tyr299Ser)
c.515A>C (p.Tyr172Ser)
c.124-10474A>C (n.124-10474A>C)
11g.2572961A>GCA379131688KCNQ1c.635A>G (p.Tyr212Cys)
c.478-10474A>G (n.478-10474A>G)
c.896A>G (p.Tyr299Cys)
c.515A>G (p.Tyr172Cys)
c.124-10474A>G (n.124-10474A>G)
11g.2572961A>TCA379131689KCNQ1c.635A>T (p.Tyr212Phe)
c.478-10474A>T (n.478-10474A>T)
c.896A>T (p.Tyr299Phe)
c.515A>T (p.Tyr172Phe)
c.124-10474A>T (n.124-10474A>T)
11g.2572962C>ACA379131690KCNQ1c.636C>A (p.Tyr212Ter)
c.478-10473C>A (n.478-10473C>A)
c.897C>A (p.Tyr299Ter)
c.516C>A (p.Tyr172Ter)
c.124-10473C>A (n.124-10473C>A)
11g.2572962C=CA1948212281KCNQ1c.636C= (p.Tyr212=)
c.478-10473C= (n.478-10473C=)
c.897C= (p.Tyr299=)
c.516C= (p.Tyr172=)
c.124-10473C= (n.124-10473C=)
11g.2572962C>GCA379131691KCNQ1c.636C>G (p.Tyr212Ter)
c.478-10473C>G (n.478-10473C>G)
c.897C>G (p.Tyr299Ter)
c.516C>G (p.Tyr172Ter)
c.124-10473C>G (n.124-10473C>G)
11g.2572962C>TCA041293KCNQ1c.636C>T (p.Tyr212=)
c.478-10473C>T (n.478-10473C>T)
c.897C>T (p.Tyr299=)
c.516C>T (p.Tyr172=)
c.124-10473C>T (n.124-10473C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572963G>ACA008554KCNQ1c.637G>A (p.Ala213Thr)
c.478-10472G>A (n.478-10472G>A)
c.898G>A (p.Ala300Thr)
c.517G>A (p.Ala173Thr)
c.124-10472G>A (n.124-10472G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572963G>CCA379131695KCNQ1c.637G>C (p.Ala213Pro)
c.478-10472G>C (n.478-10472G>C)
c.898G>C (p.Ala300Pro)
c.517G>C (p.Ala173Pro)
c.124-10472G>C (n.124-10472G>C)
11g.2572963G=CA1948212285KCNQ1c.637G= (p.Ala213=)
c.478-10472G= (n.478-10472G=)
c.898G= (p.Ala300=)
c.517G= (p.Ala173=)
c.124-10472G= (n.124-10472G=)
11g.2572963G>TCA379131697KCNQ1c.637G>T (p.Ala213Ser)
c.478-10472G>T (n.478-10472G>T)
c.898G>T (p.Ala300Ser)
c.517G>T (p.Ala173Ser)
c.124-10472G>T (n.124-10472G>T)
 ClinVar dbSNP gnomAD v4
11g.2572964C>ACA16613563KCNQ1c.638C>A (p.Ala213Glu)
c.478-10471C>A (n.478-10471C>A)
c.899C>A (p.Ala300Glu)
c.518C>A (p.Ala173Glu)
c.124-10471C>A (n.124-10471C>A)
 ClinVar dbSNP gnomAD v4
11g.2572964C=CA1948212297KCNQ1c.638C= (p.Ala213=)
c.478-10471C= (n.478-10471C=)
c.899C= (p.Ala300=)
c.518C= (p.Ala173=)
c.124-10471C= (n.124-10471C=)
11g.2572964C>GCA379131700KCNQ1c.638C>G (p.Ala213Gly)
c.478-10471C>G (n.478-10471C>G)
c.899C>G (p.Ala300Gly)
c.518C>G (p.Ala173Gly)
c.124-10471C>G (n.124-10471C>G)
 dbSNP gnomAD v4
11g.2572964C>TCA379131701KCNQ1c.638C>T (p.Ala213Val)
c.478-10471C>T (n.478-10471C>T)
c.899C>T (p.Ala300Val)
c.518C>T (p.Ala173Val)
c.124-10471C>T (n.124-10471C>T)
11g.2572965A=CA1948212305KCNQ1c.639A= (p.Ala213=)
c.478-10470A= (n.478-10470A=)
c.900A= (p.Ala300=)
c.519A= (p.Ala173=)
c.124-10470A= (n.124-10470A=)

Number of alleles fetched