Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2847754T>ACA2612011020KCNQ1,KCNQ1-AS1c.1438-13T>A (n.1438-13T>A)
c.1795-13T>A (n.1795-13T>A)
c.1414-13T>A (n.1414-13T>A)
c.199-13T>A (n.199-13T>A)
n.302-13T>A
n.778-7312A>T
 gnomAD v4
11g.2847754T>CCA2612011021KCNQ1,KCNQ1-AS1c.1438-13T>C (n.1438-13T>C)
c.1795-13T>C (n.1795-13T>C)
c.1414-13T>C (n.1414-13T>C)
c.199-13T>C (n.199-13T>C)
n.302-13T>C
n.778-7312A>G
 gnomAD v4
11g.2847756delCA2612011019KCNQ1,KCNQ1-AS1c.1438-11del (n.1438-11del)
c.1795-11del (n.1795-11del)
c.1414-11del (n.1414-11del)
c.199-11del (n.199-11del)
n.302-11del
n.778-7312del
 gnomAD v4
11g.2847755T>ACA2612011022KCNQ1,KCNQ1-AS1c.1438-12T>A (n.1438-12T>A)
c.1795-12T>A (n.1795-12T>A)
c.1414-12T>A (n.1414-12T>A)
c.199-12T>A (n.199-12T>A)
n.302-12T>A
n.778-7313A>T
 gnomAD v4
11g.2847755T>CCA2612011023KCNQ1,KCNQ1-AS1c.1438-12T>C (n.1438-12T>C)
c.1795-12T>C (n.1795-12T>C)
c.1414-12T>C (n.1414-12T>C)
c.199-12T>C (n.199-12T>C)
n.302-12T>C
n.778-7313A>G
 gnomAD v4
11g.2847757G>ACA216344997KCNQ1,KCNQ1-AS1c.1438-10G>A (n.1438-10G>A)
c.1795-10G>A (n.1795-10G>A)
c.1414-10G>A (n.1414-10G>A)
c.199-10G>A (n.199-10G>A)
n.302-10G>A
n.778-7315C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847757G=CA1948349575KCNQ1,KCNQ1-AS1c.1438-10G= (n.1438-10G=)
c.1795-10G= (n.1795-10G=)
c.1414-10G= (n.1414-10G=)
c.199-10G= (n.199-10G=)
n.302-10G=
n.778-7315C=
11g.2847757G>TCA2612011024KCNQ1,KCNQ1-AS1c.1438-10G>T (n.1438-10G>T)
c.1795-10G>T (n.1795-10G>T)
c.1414-10G>T (n.1414-10G>T)
c.199-10G>T (n.199-10G>T)
n.302-10G>T
n.778-7315C>A
 gnomAD v4
11g.2847758T>ACA2612011025KCNQ1,KCNQ1-AS1c.1438-9T>A (n.1438-9T>A)
c.1795-9T>A (n.1795-9T>A)
c.1414-9T>A (n.1414-9T>A)
c.199-9T>A (n.199-9T>A)
n.302-9T>A
n.778-7316A>T
 gnomAD v4
11g.2847759C>ACA2612011026KCNQ1,KCNQ1-AS1c.1438-8C>A (n.1438-8C>A)
c.1795-8C>A (n.1795-8C>A)
c.1414-8C>A (n.1414-8C>A)
c.199-8C>A (n.199-8C>A)
n.302-8C>A
n.778-7317G>T
 gnomAD v4
11g.2847759C=CA1948349576KCNQ1,KCNQ1-AS1c.1438-8C= (n.1438-8C=)
c.1795-8C= (n.1795-8C=)
c.1414-8C= (n.1414-8C=)
c.199-8C= (n.199-8C=)
n.302-8C=
n.778-7317G=
11g.2847759C>TCA1948349577KCNQ1,KCNQ1-AS1c.1438-8C>T (n.1438-8C>T)
c.1795-8C>T (n.1795-8C>T)
c.1414-8C>T (n.1414-8C>T)
c.199-8C>T (n.199-8C>T)
n.302-8C>T
n.778-7317G>A
 dbSNP gnomAD v4
11g.2847760C>ACA2612011027KCNQ1,KCNQ1-AS1c.1438-7C>A (n.1438-7C>A)
c.1795-7C>A (n.1795-7C>A)
c.1414-7C>A (n.1414-7C>A)
c.199-7C>A (n.199-7C>A)
n.302-7C>A
n.778-7318G>T
 gnomAD v4
11g.2847760C>TCA2548370317KCNQ1,KCNQ1-AS1c.1438-7C>T (n.1438-7C>T)
c.1795-7C>T (n.1795-7C>T)
c.1414-7C>T (n.1414-7C>T)
c.199-7C>T (n.199-7C>T)
n.302-7C>T
n.778-7318G>A
 gnomAD v4
11g.2847761C>ACA2612011028KCNQ1,KCNQ1-AS1c.1438-6C>A (n.1438-6C>A)
c.1795-6C>A (n.1795-6C>A)
c.1414-6C>A (n.1414-6C>A)
c.199-6C>A (n.199-6C>A)
n.302-6C>A
n.778-7319G>T
 gnomAD v4
11g.2847761C=CA1948349578KCNQ1,KCNQ1-AS1c.1438-6C= (n.1438-6C=)
c.1795-6C= (n.1795-6C=)
c.1414-6C= (n.1414-6C=)
c.199-6C= (n.199-6C=)
n.302-6C=
n.778-7319G=
11g.2847761C>GCA2612011029KCNQ1,KCNQ1-AS1c.1438-6C>G (n.1438-6C>G)
c.1795-6C>G (n.1795-6C>G)
c.1414-6C>G (n.1414-6C>G)
c.199-6C>G (n.199-6C>G)
n.302-6C>G
n.778-7319G>C
 gnomAD v4
11g.2847761C>TCA597432738KCNQ1,KCNQ1-AS1c.1438-6C>T (n.1438-6C>T)
c.1795-6C>T (n.1795-6C>T)
c.1414-6C>T (n.1414-6C>T)
c.199-6C>T (n.199-6C>T)
n.302-6C>T
n.778-7319G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847762C>ACA2580082623KCNQ1,KCNQ1-AS1c.1438-5C>A (n.1438-5C>A)
c.1795-5C>A (n.1795-5C>A)
c.1414-5C>A (n.1414-5C>A)
c.199-5C>A (n.199-5C>A)
n.302-5C>A
n.778-7320G>T
 ClinVar gnomAD v4
11g.2847762C=CA1948349579KCNQ1,KCNQ1-AS1c.1438-5C= (n.1438-5C=)
c.1795-5C= (n.1795-5C=)
c.1414-5C= (n.1414-5C=)
c.199-5C= (n.199-5C=)
n.302-5C=
n.778-7320G=
11g.2847762C>TCA006437KCNQ1,KCNQ1-AS1c.1438-5C>T (n.1438-5C>T)
c.1795-5C>T (n.1795-5C>T)
c.1414-5C>T (n.1414-5C>T)
c.199-5C>T (n.199-5C>T)
n.302-5C>T
n.778-7320G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847767_2847775dupCA658656097KCNQ1,KCNQ1-AS1c.1438_1446dup
c.1795_1803dup
c.1414_1422dup
c.199_207dup
n.302_310dup
n.778-7328_778-7320dup
 ClinVar
11g.2847763G>ACA033192KCNQ1,KCNQ1-AS1c.1438-4G>A (n.1438-4G>A)
c.1795-4G>A (n.1795-4G>A)
c.1414-4G>A (n.1414-4G>A)
c.199-4G>A (n.199-4G>A)
n.302-4G>A
n.778-7321C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847763G=CA1948349580KCNQ1,KCNQ1-AS1c.1438-4G= (n.1438-4G=)
c.1795-4G= (n.1795-4G=)
c.1414-4G= (n.1414-4G=)
c.199-4G= (n.199-4G=)
n.302-4G=
n.778-7321C=
11g.2847763G>TCA2612011030KCNQ1,KCNQ1-AS1c.1438-4G>T (n.1438-4G>T)
c.1795-4G>T (n.1795-4G>T)
c.1414-4G>T (n.1414-4G>T)
c.199-4G>T (n.199-4G>T)
n.302-4G>T
n.778-7321C>A
 gnomAD v4
11g.2847764C>ACA2612011031KCNQ1,KCNQ1-AS1c.1438-3C>A (n.1438-3C>A)
c.1795-3C>A (n.1795-3C>A)
c.1414-3C>A (n.1414-3C>A)
c.199-3C>A (n.199-3C>A)
n.302-3C>A
n.778-7322G>T
 gnomAD v4
11g.2847764C=CA1948349581KCNQ1,KCNQ1-AS1c.1438-3C= (n.1438-3C=)
c.1795-3C= (n.1795-3C=)
c.1414-3C= (n.1414-3C=)
c.199-3C= (n.199-3C=)
n.302-3C=
n.778-7322G=
11g.2847764C>TCA597432739KCNQ1,KCNQ1-AS1c.1438-3C>T (n.1438-3C>T)
c.1795-3C>T (n.1795-3C>T)
c.1414-3C>T (n.1414-3C>T)
c.199-3C>T (n.199-3C>T)
n.302-3C>T
n.778-7322G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847765A=CA1948349582KCNQ1,KCNQ1-AS1c.1438-2A= (n.1438-2A=)
c.1795-2A= (n.1795-2A=)
c.1414-2A= (n.1414-2A=)
c.199-2A= (n.199-2A=)
n.302-2A=
n.778-7323T=
11g.2847765A>CCA379140170KCNQ1,KCNQ1-AS1c.1438-2A>C (n.1438-2A>C)
c.1795-2A>C (n.1795-2A>C)
c.1414-2A>C (n.1414-2A>C)
c.199-2A>C (n.199-2A>C)
n.302-2A>C
n.778-7323T>G
 gnomAD v4
11g.2847765A>GCA216345010KCNQ1,KCNQ1-AS1c.1438-2A>G (n.1438-2A>G)
c.1795-2A>G (n.1795-2A>G)
c.1414-2A>G (n.1414-2A>G)
c.199-2A>G (n.199-2A>G)
n.302-2A>G
n.778-7323T>C
 ClinVar dbSNP gnomAD v4
11g.2847765A>TCA379140171KCNQ1,KCNQ1-AS1c.1438-2A>T (n.1438-2A>T)
c.1795-2A>T (n.1795-2A>T)
c.1414-2A>T (n.1414-2A>T)
c.199-2A>T (n.199-2A>T)
n.302-2A>T
n.778-7323T>A
 gnomAD v4
11g.2847766G>ACA379140172KCNQ1,KCNQ1-AS1c.1438-1G>A (n.1438-1G>A)
c.1795-1G>A (n.1795-1G>A)
c.1414-1G>A (n.1414-1G>A)
c.199-1G>A (n.199-1G>A)
n.302-1G>A
n.778-7324C>T
 gnomAD v4
11g.2847766G>CCA379140174KCNQ1,KCNQ1-AS1c.1438-1G>C (n.1438-1G>C)
c.1795-1G>C (n.1795-1G>C)
c.1414-1G>C (n.1414-1G>C)
c.199-1G>C (n.199-1G>C)
n.302-1G>C
n.778-7324C>G
11g.2847766G>TCA379140173KCNQ1,KCNQ1-AS1c.1438-1G>T (n.1438-1G>T)
c.1795-1G>T (n.1795-1G>T)
c.1414-1G>T (n.1414-1G>T)
c.199-1G>T (n.199-1G>T)
n.302-1G>T
n.778-7324C>A
 gnomAD v4
11g.2847767G>ACA379140175KCNQ1,KCNQ1-AS1c.1438G>A (p.Val480Met)
c.1795G>A (p.Val599Met)
c.1414G>A (p.Val472Met)
c.199G>A (p.Val67Met)
n.302G>A
n.778-7325C>T
 dbSNP gnomAD v3 gnomAD v4
11g.2847767G>CCA379140176KCNQ1,KCNQ1-AS1c.1438G>C (p.Val480Leu)
c.1795G>C (p.Val599Leu)
c.1414G>C (p.Val472Leu)
c.199G>C (p.Val67Leu)
n.302G>C
n.778-7325C>G
 ClinVar gnomAD v4
11g.2847767G=CA1948349583KCNQ1,KCNQ1-AS1c.1438G= (p.Val480=)
c.1795G= (p.Val599=)
c.1414G= (p.Val472=)
c.199G= (p.Val67=)
n.302G=
n.778-7325C=
11g.2847767G>TCA379140177KCNQ1,KCNQ1-AS1c.1438G>T (p.Val480Leu)
c.1795G>T (p.Val599Leu)
c.1414G>T (p.Val472Leu)
c.199G>T (p.Val67Leu)
n.302G>T
n.778-7325C>A
 ClinVar dbSNP gnomAD v4
11g.2847768T>ACA379140178KCNQ1,KCNQ1-AS1c.1439T>A (p.Val480Glu)
c.1796T>A (p.Val599Glu)
c.1415T>A (p.Val472Glu)
c.200T>A (p.Val67Glu)
n.303T>A
n.778-7326A>T
 gnomAD v4
11g.2847768T>CCA379140179KCNQ1,KCNQ1-AS1c.1439T>C (p.Val480Ala)
c.1796T>C (p.Val599Ala)
c.1415T>C (p.Val472Ala)
c.200T>C (p.Val67Ala)
n.303T>C
n.778-7326A>G
 gnomAD v4
11g.2847768T>GCA379140180KCNQ1,KCNQ1-AS1c.1439T>G (p.Val480Gly)
c.1796T>G (p.Val599Gly)
c.1415T>G (p.Val472Gly)
c.200T>G (p.Val67Gly)
n.303T>G
n.778-7326A>C
11g.2847769G>ACA472465969KCNQ1,KCNQ1-AS1c.1440G>A (p.Val480=)
c.1797G>A (p.Val599=)
c.1416G>A (p.Val472=)
c.201G>A (p.Val67=)
n.304G>A
n.778-7327C>T
 gnomAD v4
11g.2847769G>CCA472465972KCNQ1,KCNQ1-AS1c.1440G>C (p.Val480=)
c.1797G>C (p.Val599=)
c.1416G>C (p.Val472=)
c.201G>C (p.Val67=)
n.304G>C
n.778-7327C>G
11g.2847769G>TCA472465974KCNQ1,KCNQ1-AS1c.1440G>T (p.Val480=)
c.1797G>T (p.Val599=)
c.1416G>T (p.Val472=)
c.201G>T (p.Val67=)
n.304G>T
n.778-7327C>A
 gnomAD v4
11g.2847770A>CCA379140181KCNQ1,KCNQ1-AS1c.1441A>C (p.Thr481Pro)
c.1798A>C (p.Thr600Pro)
c.1417A>C (p.Thr473Pro)
c.202A>C (p.Thr68Pro)
n.305A>C
n.778-7328T>G
11g.2847770A>GCA379140182KCNQ1,KCNQ1-AS1c.1441A>G (p.Thr481Ala)
c.1798A>G (p.Thr600Ala)
c.1417A>G (p.Thr473Ala)
c.202A>G (p.Thr68Ala)
n.305A>G
n.778-7328T>C
 gnomAD v4
11g.2847770A>TCA379140183KCNQ1,KCNQ1-AS1c.1441A>T (p.Thr481Ser)
c.1798A>T (p.Thr600Ser)
c.1417A>T (p.Thr473Ser)
c.202A>T (p.Thr68Ser)
n.305A>T
n.778-7328T>A
 gnomAD v4
11g.2847771C>ACA379140184KCNQ1,KCNQ1-AS1c.1442C>A (p.Thr481Lys)
c.1799C>A (p.Thr600Lys)
c.1418C>A (p.Thr473Lys)
c.203C>A (p.Thr68Lys)
n.306C>A
n.778-7329G>T
 gnomAD v4
11g.2847771C=CA1948349584KCNQ1,KCNQ1-AS1c.1442C= (p.Thr481=)
c.1799C= (p.Thr600=)
c.1418C= (p.Thr473=)
c.203C= (p.Thr68=)
n.306C=
n.778-7329G=
11g.2847771C>GCA379140185KCNQ1,KCNQ1-AS1c.1442C>G (p.Thr481Arg)
c.1799C>G (p.Thr600Arg)
c.1418C>G (p.Thr473Arg)
c.203C>G (p.Thr68Arg)
n.306C>G
n.778-7329G>C
 gnomAD v4
11g.2847771C>TCA006439KCNQ1,KCNQ1-AS1c.1442C>T (p.Thr481Met)
c.1799C>T (p.Thr600Met)
c.1418C>T (p.Thr473Met)
c.203C>T (p.Thr68Met)
n.306C>T
n.778-7329G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847772G>ACA006446KCNQ1,KCNQ1-AS1c.1443G>A (p.Thr481=)
c.1800G>A (p.Thr600=)
c.1419G>A (p.Thr473=)
c.204G>A (p.Thr68=)
n.307G>A
n.778-7330C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847772G>CCA472465987KCNQ1,KCNQ1-AS1c.1443G>C (p.Thr481=)
c.1800G>C (p.Thr600=)
c.1419G>C (p.Thr473=)
c.204G>C (p.Thr68=)
n.307G>C
n.778-7330C>G
11g.2847772G=CA1948349585KCNQ1,KCNQ1-AS1c.1443G= (p.Thr481=)
c.1800G= (p.Thr600=)
c.1419G= (p.Thr473=)
c.204G= (p.Thr68=)
n.307G=
n.778-7330C=
11g.2847772G>TCA472465990KCNQ1,KCNQ1-AS1c.1443G>T (p.Thr481=)
c.1800G>T (p.Thr600=)
c.1419G>T (p.Thr473=)
c.204G>T (p.Thr68=)
n.307G>T
n.778-7330C>A
 gnomAD v4
11g.2847773C>ACA379140186KCNQ1,KCNQ1-AS1c.1444C>A (p.Gln482Lys)
c.1801C>A (p.Gln601Lys)
c.1420C>A (p.Gln474Lys)
c.205C>A (p.Gln69Lys)
n.308C>A
n.778-7331G>T
 gnomAD v4
11g.2847773C=CA1948349586KCNQ1,KCNQ1-AS1c.1444C= (p.Gln482=)
c.1801C= (p.Gln601=)
c.1420C= (p.Gln474=)
c.205C= (p.Gln69=)
n.308C=
n.778-7331G=
11g.2847773C>GCA379140187KCNQ1,KCNQ1-AS1c.1444C>G (p.Gln482Glu)
c.1801C>G (p.Gln601Glu)
c.1420C>G (p.Gln474Glu)
c.205C>G (p.Gln69Glu)
n.308C>G
n.778-7331G>C
11g.2847773C>TCA006452KCNQ1,KCNQ1-AS1c.1444C>T (p.Gln482Ter)
c.1801C>T (p.Gln601Ter)
c.1420C>T (p.Gln474Ter)
c.205C>T (p.Gln69Ter)
n.308C>T
n.778-7331G>A
 ClinVar dbSNP gnomAD v4
11g.2847774A>CCA379140188KCNQ1,KCNQ1-AS1c.1445A>C (p.Gln482Pro)
c.1802A>C (p.Gln601Pro)
c.1421A>C (p.Gln474Pro)
c.206A>C (p.Gln69Pro)
n.309A>C
n.778-7332T>G
11g.2847774A>GCA379140189KCNQ1,KCNQ1-AS1c.1445A>G (p.Gln482Arg)
c.1802A>G (p.Gln601Arg)
c.1421A>G (p.Gln474Arg)
c.206A>G (p.Gln69Arg)
n.309A>G
n.778-7332T>C
 gnomAD v4
11g.2847774A>TCA379140190KCNQ1,KCNQ1-AS1c.1445A>T (p.Gln482Leu)
c.1802A>T (p.Gln601Leu)
c.1421A>T (p.Gln474Leu)
c.206A>T (p.Gln69Leu)
n.309A>T
n.778-7332T>A
11g.2847775G>ACA472466001KCNQ1,KCNQ1-AS1c.1446G>A (p.Gln482=)
c.1803G>A (p.Gln601=)
c.1422G>A (p.Gln474=)
c.207G>A (p.Gln69=)
n.310G>A
n.778-7333C>T
 dbSNP gnomAD v4
11g.2847775G>CCA379140191KCNQ1,KCNQ1-AS1c.1446G>C (p.Gln482His)
c.1803G>C (p.Gln601His)
c.1422G>C (p.Gln474His)
c.207G>C (p.Gln69His)
n.310G>C
n.778-7333C>G
11g.2847775G=CA1948349587KCNQ1,KCNQ1-AS1c.1446G= (p.Gln482=)
c.1803G= (p.Gln601=)
c.1422G= (p.Gln474=)
c.207G= (p.Gln69=)
n.310G=
n.778-7333C=
11g.2847775G>TCA379140192KCNQ1,KCNQ1-AS1c.1446G>T (p.Gln482His)
c.1803G>T (p.Gln601His)
c.1422G>T (p.Gln474His)
c.207G>T (p.Gln69His)
n.310G>T
n.778-7333C>A
 gnomAD v4
11g.2847776C>ACA379140193KCNQ1,KCNQ1-AS1c.1447C>A (p.Leu483Met)
c.1804C>A (p.Leu602Met)
c.1423C>A (p.Leu475Met)
c.208C>A (p.Leu70Met)
n.311C>A
n.778-7334G>T
 gnomAD v4
11g.2847776C>GCA379140194KCNQ1,KCNQ1-AS1c.1447C>G (p.Leu483Val)
c.1804C>G (p.Leu602Val)
c.1423C>G (p.Leu475Val)
c.208C>G (p.Leu70Val)
n.311C>G
n.778-7334G>C
11g.2847776C>TCA472466003KCNQ1,KCNQ1-AS1c.1447C>T (p.Leu483=)
c.1804C>T (p.Leu602=)
c.1423C>T (p.Leu475=)
c.208C>T (p.Leu70=)
n.311C>T
n.778-7334G>A
 gnomAD v4
11g.2847777T>ACA379140195KCNQ1,KCNQ1-AS1c.1448T>A (p.Leu483Gln)
c.1805T>A (p.Leu602Gln)
c.1424T>A (p.Leu475Gln)
c.209T>A (p.Leu70Gln)
n.312T>A
n.778-7335A>T
11g.2847777T>CCA006458KCNQ1,KCNQ1-AS1c.1448T>C (p.Leu483Pro)
c.1805T>C (p.Leu602Pro)
c.1424T>C (p.Leu475Pro)
c.209T>C (p.Leu70Pro)
n.312T>C
n.778-7335A>G
 ClinVar dbSNP
11g.2847777T>GCA379140196KCNQ1,KCNQ1-AS1c.1448T>G (p.Leu483Arg)
c.1805T>G (p.Leu602Arg)
c.1424T>G (p.Leu475Arg)
c.209T>G (p.Leu70Arg)
n.312T>G
n.778-7335A>C
11g.2847777T=CA1948349588KCNQ1,KCNQ1-AS1c.1448T= (p.Leu483=)
c.1805T= (p.Leu602=)
c.1424T= (p.Leu475=)
c.209T= (p.Leu70=)
n.312T=
n.778-7335A=
11g.2847778G>ACA16606230KCNQ1,KCNQ1-AS1c.1449G>A (p.Leu483=)
c.1806G>A (p.Leu602=)
c.1425G>A (p.Leu475=)
c.210G>A (p.Leu70=)
n.313G>A
n.778-7336C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847778G>CCA472466009KCNQ1,KCNQ1-AS1c.1449G>C (p.Leu483=)
c.1806G>C (p.Leu602=)
c.1425G>C (p.Leu475=)
c.210G>C (p.Leu70=)
n.313G>C
n.778-7336C>G
11g.2847778G=CA1948349589KCNQ1,KCNQ1-AS1c.1449G= (p.Leu483=)
c.1806G= (p.Leu602=)
c.1425G= (p.Leu475=)
c.210G= (p.Leu70=)
n.313G=
n.778-7336C=
11g.2847778G>TCA472466011KCNQ1,KCNQ1-AS1c.1449G>T (p.Leu483=)
c.1806G>T (p.Leu602=)
c.1425G>T (p.Leu475=)
c.210G>T (p.Leu70=)
n.313G>T
n.778-7336C>A
 gnomAD v4
11g.2847779delCA2695213092KCNQ1,KCNQ1-AS1c.1450del (p.Asp484ThrfsTer?)
c.1807del (p.Asp603ThrfsTer?)
c.1426del (p.Asp476ThrfsTer?)
c.211del (p.Asp71ThrfsTer?)
n.314del
n.778-7336del
11g.2847779G>ACA379140199KCNQ1,KCNQ1-AS1c.1450G>A (p.Asp484Asn)
c.1807G>A (p.Asp603Asn)
c.1426G>A (p.Asp476Asn)
c.211G>A (p.Asp71Asn)
n.314G>A
n.778-7337C>T
 gnomAD v4
11g.2847779G>CCA379140198KCNQ1,KCNQ1-AS1c.1450G>C (p.Asp484His)
c.1807G>C (p.Asp603His)
c.1426G>C (p.Asp476His)
c.211G>C (p.Asp71His)
n.314G>C
n.778-7337C>G
 gnomAD v4
11g.2847779G>TCA379140197KCNQ1,KCNQ1-AS1c.1450G>T (p.Asp484Tyr)
c.1807G>T (p.Asp603Tyr)
c.1426G>T (p.Asp476Tyr)
c.211G>T (p.Asp71Tyr)
n.314G>T
n.778-7337C>A
 gnomAD v4
11g.2847780A=CA1948349590KCNQ1,KCNQ1-AS1c.1451A= (p.Asp484=)
c.1808A= (p.Asp603=)
c.1427A= (p.Asp476=)
c.212A= (p.Asp71=)
n.315A=
n.778-7338T=
11g.2847780A>CCA379140200KCNQ1,KCNQ1-AS1c.1451A>C (p.Asp484Ala)
c.1808A>C (p.Asp603Ala)
c.1427A>C (p.Asp476Ala)
c.212A>C (p.Asp71Ala)
n.315A>C
n.778-7338T>G
11g.2847780A>GCA379140202KCNQ1,KCNQ1-AS1c.1451A>G (p.Asp484Gly)
c.1808A>G (p.Asp603Gly)
c.1427A>G (p.Asp476Gly)
c.212A>G (p.Asp71Gly)
n.315A>G
n.778-7338T>C
 gnomAD v4
11g.2847780A>TCA379140201KCNQ1,KCNQ1-AS1c.1451A>T (p.Asp484Val)
c.1808A>T (p.Asp603Val)
c.1427A>T (p.Asp476Val)
c.212A>T (p.Asp71Val)
n.315A>T
n.778-7338T>A
11g.2847781C>ACA216345022KCNQ1,KCNQ1-AS1c.1452C>A (p.Asp484Glu)
c.1809C>A (p.Asp603Glu)
c.1428C>A (p.Asp476Glu)
c.213C>A (p.Asp71Glu)
n.316C>A
n.778-7339G>T
 ClinVar dbSNP gnomAD v4
11g.2847781C=CA1948349591KCNQ1,KCNQ1-AS1c.1452C= (p.Asp484=)
c.1809C= (p.Asp603=)
c.1428C= (p.Asp476=)
c.213C= (p.Asp71=)
n.316C=
n.778-7339G=
11g.2847781C>GCA379140203KCNQ1,KCNQ1-AS1c.1452C>G (p.Asp484Glu)
c.1809C>G (p.Asp603Glu)
c.1428C>G (p.Asp476Glu)
c.213C>G (p.Asp71Glu)
n.316C>G
n.778-7339G>C
11g.2847781C>TCA472466032KCNQ1,KCNQ1-AS1c.1452C>T (p.Asp484=)
c.1809C>T (p.Asp603=)
c.1428C>T (p.Asp476=)
c.213C>T (p.Asp71=)
n.316C>T
n.778-7339G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847782dupCA1139661766KCNQ1,KCNQ1-AS1c.1453dup (p.Gln485ProfsTer?)
c.1810dup (p.Gln604ProfsTer?)
c.1429dup (p.Gln477ProfsTer?)
c.214dup (p.Gln72ProfsTer?)
n.317dup
n.778-7339dup
 ClinVar dbSNP
11g.2847782C>ACA379140204KCNQ1,KCNQ1-AS1c.1453C>A (p.Gln485Lys)
c.1810C>A (p.Gln604Lys)
c.1429C>A (p.Gln477Lys)
c.214C>A (p.Gln72Lys)
n.317C>A
n.778-7340G>T
 gnomAD v4
11g.2847782C=CA1948349592KCNQ1,KCNQ1-AS1c.1453C= (p.Gln485=)
c.1810C= (p.Gln604=)
c.1429C= (p.Gln477=)
c.214C= (p.Gln72=)
n.317C=
n.778-7340G=
11g.2847782C>GCA379140205KCNQ1,KCNQ1-AS1c.1453C>G (p.Gln485Glu)
c.1810C>G (p.Gln604Glu)
c.1429C>G (p.Gln477Glu)
c.214C>G (p.Gln72Glu)
n.317C>G
n.778-7340G>C
 dbSNP gnomAD v4
11g.2847782C>TCA379140206KCNQ1,KCNQ1-AS1c.1453C>T (p.Gln485Ter)
c.1810C>T (p.Gln604Ter)
c.1429C>T (p.Gln477Ter)
c.214C>T (p.Gln72Ter)
n.317C>T
n.778-7340G>A
 gnomAD v4
11g.2847783A=CA1948349593KCNQ1,KCNQ1-AS1c.1454A= (p.Gln485=)
c.1811A= (p.Gln604=)
c.1430A= (p.Gln477=)
c.215A= (p.Gln72=)
n.318A=
n.778-7341T=
11g.2847783A>CCA379140207KCNQ1,KCNQ1-AS1c.1454A>C (p.Gln485Pro)
c.1811A>C (p.Gln604Pro)
c.1430A>C (p.Gln477Pro)
c.215A>C (p.Gln72Pro)
n.318A>C
n.778-7341T>G
11g.2847783A>GCA379140208KCNQ1,KCNQ1-AS1c.1454A>G (p.Gln485Arg)
c.1811A>G (p.Gln604Arg)
c.1430A>G (p.Gln477Arg)
c.215A>G (p.Gln72Arg)
n.318A>G
n.778-7341T>C
 dbSNP gnomAD v2 gnomAD v4
11g.2847783A>TCA006465KCNQ1,KCNQ1-AS1c.1454A>T (p.Gln485Leu)
c.1811A>T (p.Gln604Leu)
c.1430A>T (p.Gln477Leu)
c.215A>T (p.Gln72Leu)
n.318A>T
n.778-7341T>A
 ClinVar dbSNP
11g.2847784G>ACA472466052KCNQ1,KCNQ1-AS1c.1455G>A (p.Gln485=)
c.1812G>A (p.Gln604=)
c.1431G>A (p.Gln477=)
c.216G>A (p.Gln72=)
n.319G>A
n.778-7342C>T
11g.2847784G>CCA379140209KCNQ1,KCNQ1-AS1c.1455G>C (p.Gln485His)
c.1812G>C (p.Gln604His)
c.1431G>C (p.Gln477His)
c.216G>C (p.Gln72His)
n.319G>C
n.778-7342C>G
11g.2847784G>TCA379140210KCNQ1,KCNQ1-AS1c.1455G>T (p.Gln485His)
c.1812G>T (p.Gln604His)
c.1431G>T (p.Gln477His)
c.216G>T (p.Gln72His)
n.319G>T
n.778-7342C>A
 gnomAD v4
11g.2847785A>CCA472466057KCNQ1,KCNQ1-AS1c.1456A>C (p.Arg486=)
c.1813A>C (p.Arg605=)
c.1432A>C (p.Arg478=)
c.217A>C (p.Arg73=)
n.320A>C
n.778-7343T>G
11g.2847785A>GCA379140211KCNQ1,KCNQ1-AS1c.1456A>G (p.Arg486Gly)
c.1813A>G (p.Arg605Gly)
c.1432A>G (p.Arg478Gly)
c.217A>G (p.Arg73Gly)
n.320A>G
n.778-7343T>C
11g.2847785A>TCA379140212KCNQ1,KCNQ1-AS1c.1456A>T (p.Arg486Trp)
c.1813A>T (p.Arg605Trp)
c.1432A>T (p.Arg478Trp)
c.217A>T (p.Arg73Trp)
n.320A>T
n.778-7343T>A
 gnomAD v4
11g.2847786G>ACA379140215KCNQ1,KCNQ1-AS1c.1457G>A (p.Arg486Lys)
c.1814G>A (p.Arg605Lys)
c.1433G>A (p.Arg478Lys)
c.218G>A (p.Arg73Lys)
n.321G>A
n.778-7344C>T
 dbSNP gnomAD v3 gnomAD v4
11g.2847786G>CCA379140214KCNQ1,KCNQ1-AS1c.1457G>C (p.Arg486Thr)
c.1814G>C (p.Arg605Thr)
c.1433G>C (p.Arg478Thr)
c.218G>C (p.Arg73Thr)
n.321G>C
n.778-7344C>G
11g.2847786G>TCA379140213KCNQ1,KCNQ1-AS1c.1457G>T (p.Arg486Met)
c.1814G>T (p.Arg605Met)
c.1433G>T (p.Arg478Met)
c.218G>T (p.Arg73Met)
n.321G>T
n.778-7344C>A
 gnomAD v4
11g.2847787G>ACA472466075KCNQ1,KCNQ1-AS1c.1458G>A (p.Arg486=)
c.1815G>A (p.Arg605=)
c.1434G>A (p.Arg478=)
c.219G>A (p.Arg73=)
n.322G>A
n.778-7345C>T
 gnomAD v4
11g.2847787G>CCA379140216KCNQ1,KCNQ1-AS1c.1458G>C (p.Arg486Ser)
c.1815G>C (p.Arg605Ser)
c.1434G>C (p.Arg478Ser)
c.219G>C (p.Arg73Ser)
n.322G>C
n.778-7345C>G
11g.2847787G>TCA379140217KCNQ1,KCNQ1-AS1c.1458G>T (p.Arg486Ser)
c.1815G>T (p.Arg605Ser)
c.1434G>T (p.Arg478Ser)
c.219G>T (p.Arg73Ser)
n.322G>T
n.778-7345C>A
 gnomAD v4
11g.2847788C>ACA379140218KCNQ1,KCNQ1-AS1c.1459C>A (p.Leu487Met)
c.1816C>A (p.Leu606Met)
c.1435C>A (p.Leu479Met)
c.220C>A (p.Leu74Met)
n.323C>A
n.778-7346G>T
 gnomAD v4
11g.2847788C=CA1948349594KCNQ1,KCNQ1-AS1c.1459C= (p.Leu487=)
c.1816C= (p.Leu606=)
c.1435C= (p.Leu479=)
c.220C= (p.Leu74=)
n.323C=
n.778-7346G=
11g.2847788C>GCA379140219KCNQ1,KCNQ1-AS1c.1459C>G (p.Leu487Val)
c.1816C>G (p.Leu606Val)
c.1435C>G (p.Leu479Val)
c.220C>G (p.Leu74Val)
n.323C>G
n.778-7346G>C
11g.2847788C>TCA472466079KCNQ1,KCNQ1-AS1c.1459C>T (p.Leu487=)
c.1816C>T (p.Leu606=)
c.1435C>T (p.Leu479=)
c.220C>T (p.Leu74=)
n.323C>T
n.778-7346G>A
 dbSNP gnomAD v2
11g.2847789T>ACA379140220KCNQ1,KCNQ1-AS1c.1460T>A (p.Leu487Gln)
c.1817T>A (p.Leu606Gln)
c.1436T>A (p.Leu479Gln)
c.221T>A (p.Leu74Gln)
n.324T>A
n.778-7347A>T
 ClinVar gnomAD v4
11g.2847789T>CCA379140221KCNQ1,KCNQ1-AS1c.1460T>C (p.Leu487Pro)
c.1817T>C (p.Leu606Pro)
c.1436T>C (p.Leu479Pro)
c.221T>C (p.Leu74Pro)
n.324T>C
n.778-7347A>G
11g.2847789T>GCA379140222KCNQ1,KCNQ1-AS1c.1460T>G (p.Leu487Arg)
c.1817T>G (p.Leu606Arg)
c.1436T>G (p.Leu479Arg)
c.221T>G (p.Leu74Arg)
n.324T>G
n.778-7347A>C
11g.2847790G>ACA472466097KCNQ1,KCNQ1-AS1c.1461G>A (p.Leu487=)
c.1818G>A (p.Leu606=)
c.1437G>A (p.Leu479=)
c.222G>A (p.Leu74=)
n.325G>A
n.778-7348C>T
 dbSNP gnomAD v4
11g.2847790G>CCA472466089KCNQ1,KCNQ1-AS1c.1461G>C (p.Leu487=)
c.1818G>C (p.Leu606=)
c.1437G>C (p.Leu479=)
c.222G>C (p.Leu74=)
n.325G>C
n.778-7348C>G
11g.2847790G=CA1948349595KCNQ1,KCNQ1-AS1c.1461G= (p.Leu487=)
c.1818G= (p.Leu606=)
c.1437G= (p.Leu479=)
c.222G= (p.Leu74=)
n.325G=
n.778-7348C=
11g.2847790G>TCA472466088KCNQ1,KCNQ1-AS1c.1461G>T (p.Leu487=)
c.1818G>T (p.Leu606=)
c.1437G>T (p.Leu479=)
c.222G>T (p.Leu74=)
n.325G>T
n.778-7348C>A
 gnomAD v4
11g.2847791G>ACA379140223KCNQ1,KCNQ1-AS1c.1462G>A (p.Ala488Thr)
c.1819G>A (p.Ala607Thr)
c.1438G>A (p.Ala480Thr)
c.223G>A (p.Ala75Thr)
n.326G>A
n.778-7349C>T
 dbSNP gnomAD v2 gnomAD v4
11g.2847791G>CCA379140224KCNQ1,KCNQ1-AS1c.1462G>C (p.Ala488Pro)
c.1819G>C (p.Ala607Pro)
c.1438G>C (p.Ala480Pro)
c.223G>C (p.Ala75Pro)
n.326G>C
n.778-7349C>G
 dbSNP gnomAD v2 COSMIC
11g.2847791G=CA1948349596KCNQ1,KCNQ1-AS1c.1462G= (p.Ala488=)
c.1819G= (p.Ala607=)
c.1438G= (p.Ala480=)
c.223G= (p.Ala75=)
n.326G=
n.778-7349C=
11g.2847791G>TCA379140225KCNQ1,KCNQ1-AS1c.1462G>T (p.Ala488Ser)
c.1819G>T (p.Ala607Ser)
c.1438G>T (p.Ala480Ser)
c.223G>T (p.Ala75Ser)
n.326G>T
n.778-7349C>A
 ClinVar gnomAD v4
11g.2847792C>ACA379140226KCNQ1,KCNQ1-AS1c.1463C>A (p.Ala488Glu)
c.1820C>A (p.Ala607Glu)
c.1439C>A (p.Ala480Glu)
c.224C>A (p.Ala75Glu)
n.327C>A
n.778-7350G>T
 gnomAD v4
11g.2847792C>GCA379140227KCNQ1,KCNQ1-AS1c.1463C>G (p.Ala488Gly)
c.1820C>G (p.Ala607Gly)
c.1439C>G (p.Ala480Gly)
c.224C>G (p.Ala75Gly)
n.327C>G
n.778-7350G>C
11g.2847792C>TCA379140228KCNQ1,KCNQ1-AS1c.1463C>T (p.Ala488Val)
c.1820C>T (p.Ala607Val)
c.1439C>T (p.Ala480Val)
c.224C>T (p.Ala75Val)
n.327C>T
n.778-7350G>A
 gnomAD v4
11g.2847793A=CA1948349597KCNQ1,KCNQ1-AS1c.1464A= (p.Ala488=)
c.1821A= (p.Ala607=)
c.1440A= (p.Ala480=)
c.225A= (p.Ala75=)
n.328A=
n.778-7351T=
11g.2847793A>CCA472466122KCNQ1,KCNQ1-AS1c.1464A>C (p.Ala488=)
c.1821A>C (p.Ala607=)
c.1440A>C (p.Ala480=)
c.225A>C (p.Ala75=)
n.328A>C
n.778-7351T>G
11g.2847793A>GCA472466111KCNQ1,KCNQ1-AS1c.1464A>G (p.Ala488=)
c.1821A>G (p.Ala607=)
c.1440A>G (p.Ala480=)
c.225A>G (p.Ala75=)
n.328A>G
n.778-7351T>C
 dbSNP gnomAD v2 gnomAD v4
11g.2847793A>TCA472466115KCNQ1,KCNQ1-AS1c.1464A>T (p.Ala488=)
c.1821A>T (p.Ala607=)
c.1440A>T (p.Ala480=)
c.225A>T (p.Ala75=)
n.328A>T
n.778-7351T>A
11g.2847794C>ACA379140230KCNQ1,KCNQ1-AS1c.1465C>A (p.Leu489Ile)
c.1822C>A (p.Leu608Ile)
c.1441C>A (p.Leu481Ile)
c.226C>A (p.Leu76Ile)
n.329C>A
n.778-7352G>T
 gnomAD v4
11g.2847794C=CA1948349598KCNQ1,KCNQ1-AS1c.1465C= (p.Leu489=)
c.1822C= (p.Leu608=)
c.1441C= (p.Leu481=)
c.226C= (p.Leu76=)
n.329C=
n.778-7352G=
11g.2847794C>GCA379140231KCNQ1,KCNQ1-AS1c.1465C>G (p.Leu489Val)
c.1822C>G (p.Leu608Val)
c.1441C>G (p.Leu481Val)
c.226C>G (p.Leu76Val)
n.329C>G
n.778-7352G>C
 ClinVar dbSNP
11g.2847794C>TCA379140229KCNQ1,KCNQ1-AS1c.1465C>T (p.Leu489Phe)
c.1822C>T (p.Leu608Phe)
c.1441C>T (p.Leu481Phe)
c.226C>T (p.Leu76Phe)
n.329C>T
n.778-7352G>A
11g.2847794_2847797delinsCTCACA1948349599KCNQ1,KCNQ1-AS1c.1465_1468delinsCTCA (p.Leu489=)
c.1822_1825delinsCTCA (p.Leu608=)
c.1441_1444delinsCTCA (p.Leu481=)
c.226_229delinsCTCA (p.Leu76=)
n.329_332delinsCTCA
n.778-7355_778-7352delinsTGAG
11g.2847795T>ACA379140232KCNQ1,KCNQ1-AS1c.1466T>A (p.Leu489His)
c.1823T>A (p.Leu608His)
c.1442T>A (p.Leu481His)
c.227T>A (p.Leu76His)
n.330T>A
n.778-7353A>T
 gnomAD v4
11g.2847795T>CCA379140233KCNQ1,KCNQ1-AS1c.1466T>C (p.Leu489Pro)
c.1823T>C (p.Leu608Pro)
c.1442T>C (p.Leu481Pro)
c.227T>C (p.Leu76Pro)
n.330T>C
n.778-7353A>G
11g.2847795T>GCA379140234KCNQ1,KCNQ1-AS1c.1466T>G (p.Leu489Arg)
c.1823T>G (p.Leu608Arg)
c.1442T>G (p.Leu481Arg)
c.227T>G (p.Leu76Arg)
n.330T>G
n.778-7353A>C
11g.2847798_2847800delCA658656098KCNQ1,KCNQ1-AS1c.1469_1471del (p.Ile490del)
c.1826_1828del (p.Ile609del)
c.1445_1447del (p.Ile482del)
c.230_232del (p.Ile77del)
n.333_335del
n.778-7355_778-7353del
 ClinVar dbSNP
11g.2847796C>ACA472466134KCNQ1,KCNQ1-AS1c.1467C>A (p.Leu489=)
c.1824C>A (p.Leu608=)
c.1443C>A (p.Leu481=)
c.228C>A (p.Leu76=)
n.331C>A
n.778-7354G>T
 gnomAD v4
11g.2847796C>GCA472466137KCNQ1,KCNQ1-AS1c.1467C>G (p.Leu489=)
c.1824C>G (p.Leu608=)
c.1443C>G (p.Leu481=)
c.228C>G (p.Leu76=)
n.331C>G
n.778-7354G>C
11g.2847796C>TCA472466142KCNQ1,KCNQ1-AS1c.1467C>T (p.Leu489=)
c.1824C>T (p.Leu608=)
c.1443C>T (p.Leu481=)
c.228C>T (p.Leu76=)
n.331C>T
n.778-7354G>A
 gnomAD v4
11g.2847797A>CCA379140235KCNQ1,KCNQ1-AS1c.1468A>C (p.Ile490Leu)
c.1825A>C (p.Ile609Leu)
c.1444A>C (p.Ile482Leu)
c.229A>C (p.Ile77Leu)
n.332A>C
n.778-7355T>G
11g.2847797A>GCA379140236KCNQ1,KCNQ1-AS1c.1468A>G (p.Ile490Val)
c.1825A>G (p.Ile609Val)
c.1444A>G (p.Ile482Val)
c.229A>G (p.Ile77Val)
n.332A>G
n.778-7355T>C
11g.2847797A>TCA379140237KCNQ1,KCNQ1-AS1c.1468A>T (p.Ile490Phe)
c.1825A>T (p.Ile609Phe)
c.1444A>T (p.Ile482Phe)
c.229A>T (p.Ile77Phe)
n.332A>T
n.778-7355T>A
11g.2847798T>ACA379140238KCNQ1,KCNQ1-AS1c.1469T>A (p.Ile490Asn)
c.1826T>A (p.Ile609Asn)
c.1445T>A (p.Ile482Asn)
c.230T>A (p.Ile77Asn)
n.333T>A
n.778-7356A>T
 ClinVar gnomAD v4
11g.2847798T>CCA379140239KCNQ1,KCNQ1-AS1c.1469T>C (p.Ile490Thr)
c.1826T>C (p.Ile609Thr)
c.1445T>C (p.Ile482Thr)
c.230T>C (p.Ile77Thr)
n.333T>C
n.778-7356A>G
11g.2847798T>GCA379140240KCNQ1,KCNQ1-AS1c.1469T>G (p.Ile490Ser)
c.1826T>G (p.Ile609Ser)
c.1445T>G (p.Ile482Ser)
c.230T>G (p.Ile77Ser)
n.333T>G
n.778-7356A>C
11g.2847803_2847815delCA2612011065KCNQ1,KCNQ1-AS1c.1474_1486del (p.Asp492SerfsTer?)
c.1831_1843del (p.Asp611SerfsTer?)
c.1450_1462del (p.Asp484SerfsTer?)
c.235_247del (p.Asp79SerfsTer?)
n.338_350del
n.778-7368_778-7356del
 gnomAD v4
11g.2847799C>ACA472466148KCNQ1,KCNQ1-AS1c.1470C>A (p.Ile490=)
c.1827C>A (p.Ile609=)
c.1446C>A (p.Ile482=)
c.231C>A (p.Ile77=)
n.334C>A
n.778-7357G>T
 gnomAD v4
11g.2847799C=CA1948349600KCNQ1,KCNQ1-AS1c.1470C= (p.Ile490=)
c.1827C= (p.Ile609=)
c.1446C= (p.Ile482=)
c.231C= (p.Ile77=)
n.334C=
n.778-7357G=
11g.2847799C>GCA379140241KCNQ1,KCNQ1-AS1c.1470C>G (p.Ile490Met)
c.1827C>G (p.Ile609Met)
c.1446C>G (p.Ile482Met)
c.231C>G (p.Ile77Met)
n.334C>G
n.778-7357G>C
11g.2847799C>TCA033274KCNQ1,KCNQ1-AS1c.1470C>T (p.Ile490=)
c.1827C>T (p.Ile609=)
c.1446C>T (p.Ile482=)
c.231C>T (p.Ile77=)
n.334C>T
n.778-7357G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847800A>CCA379140244KCNQ1,KCNQ1-AS1c.1471A>C (p.Thr491Pro)
c.1828A>C (p.Thr610Pro)
c.1447A>C (p.Thr483Pro)
c.232A>C (p.Thr78Pro)
n.335A>C
n.778-7358T>G
11g.2847800A>GCA379140243KCNQ1,KCNQ1-AS1c.1471A>G (p.Thr491Ala)
c.1828A>G (p.Thr610Ala)
c.1447A>G (p.Thr483Ala)
c.232A>G (p.Thr78Ala)
n.335A>G
n.778-7358T>C
 gnomAD v4
11g.2847800A>TCA379140242KCNQ1,KCNQ1-AS1c.1471A>T (p.Thr491Ser)
c.1828A>T (p.Thr610Ser)
c.1447A>T (p.Thr483Ser)
c.232A>T (p.Thr78Ser)
n.335A>T
n.778-7358T>A
11g.2847801C>ACA006469KCNQ1,KCNQ1-AS1c.1472C>A (p.Thr491Asn)
c.1829C>A (p.Thr610Asn)
c.1448C>A (p.Thr483Asn)
c.233C>A (p.Thr78Asn)
n.336C>A
n.778-7359G>T
 ClinVar dbSNP gnomAD v4
11g.2847801C=CA1948349601KCNQ1,KCNQ1-AS1c.1472C= (p.Thr491=)
c.1829C= (p.Thr610=)
c.1448C= (p.Thr483=)
c.233C= (p.Thr78=)
n.336C=
n.778-7359G=
11g.2847801C>GCA379140245KCNQ1,KCNQ1-AS1c.1472C>G (p.Thr491Ser)
c.1829C>G (p.Thr610Ser)
c.1448C>G (p.Thr483Ser)
c.233C>G (p.Thr78Ser)
n.336C>G
n.778-7359G>C
11g.2847801C>TCA379140246KCNQ1,KCNQ1-AS1c.1472C>T (p.Thr491Ile)
c.1829C>T (p.Thr610Ile)
c.1448C>T (p.Thr483Ile)
c.233C>T (p.Thr78Ile)
n.336C>T
n.778-7359G>A
 gnomAD v4
11g.2847802C>ACA472466171KCNQ1,KCNQ1-AS1c.1473C>A (p.Thr491=)
c.1830C>A (p.Thr610=)
c.1449C>A (p.Thr483=)
c.234C>A (p.Thr78=)
n.337C>A
n.778-7360G>T
 gnomAD v4
11g.2847802C=CA1948349602KCNQ1,KCNQ1-AS1c.1473C= (p.Thr491=)
c.1830C= (p.Thr610=)
c.1449C= (p.Thr483=)
c.234C= (p.Thr78=)
n.337C=
n.778-7360G=
11g.2847802C>GCA472466173KCNQ1,KCNQ1-AS1c.1473C>G (p.Thr491=)
c.1830C>G (p.Thr610=)
c.1449C>G (p.Thr483=)
c.234C>G (p.Thr78=)
n.337C>G
n.778-7360G>C
 ClinVar gnomAD v4 COSMIC COSMIC
11g.2847802C>TCA033288KCNQ1,KCNQ1-AS1c.1473C>T (p.Thr491=)
c.1830C>T (p.Thr610=)
c.1449C>T (p.Thr483=)
c.234C>T (p.Thr78=)
n.337C>T
n.778-7360G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847803G>ACA006476KCNQ1,KCNQ1-AS1c.1474G>A (p.Asp492Asn)
c.1831G>A (p.Asp611Asn)
c.1450G>A (p.Asp484Asn)
c.235G>A (p.Asp79Asn)
n.338G>A
n.778-7361C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847803G>CCA379140247KCNQ1,KCNQ1-AS1c.1474G>C (p.Asp492His)
c.1831G>C (p.Asp611His)
c.1450G>C (p.Asp484His)
c.235G>C (p.Asp79His)
n.338G>C
n.778-7361C>G
11g.2847803G=CA1948349603KCNQ1,KCNQ1-AS1c.1474G= (p.Asp492=)
c.1831G= (p.Asp611=)
c.1450G= (p.Asp484=)
c.235G= (p.Asp79=)
n.338G=
n.778-7361C=
11g.2847803G>TCA006483KCNQ1,KCNQ1-AS1c.1474G>T (p.Asp492Tyr)
c.1831G>T (p.Asp611Tyr)
c.1450G>T (p.Asp484Tyr)
c.235G>T (p.Asp79Tyr)
n.338G>T
n.778-7361C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847803_2847806dupCA2695213093KCNQ1,KCNQ1-AS1c.1474_1477dup (p.Met493ArgfsTer?)
c.1831_1834dup (p.Met612ArgfsTer?)
c.1450_1453dup (p.Met485ArgfsTer?)
c.235_238dup (p.Met80ArgfsTer?)
n.338_341dup
n.778-7364_778-7361dup
11g.2847804A>CCA379140248KCNQ1,KCNQ1-AS1c.1475A>C (p.Asp492Ala)
c.1832A>C (p.Asp611Ala)
c.1451A>C (p.Asp484Ala)
c.236A>C (p.Asp79Ala)
n.339A>C
n.778-7362T>G
11g.2847804A>GCA379140249KCNQ1,KCNQ1-AS1c.1475A>G (p.Asp492Gly)
c.1832A>G (p.Asp611Gly)
c.1451A>G (p.Asp484Gly)
c.236A>G (p.Asp79Gly)
n.339A>G
n.778-7362T>C
11g.2847804A>TCA379140250KCNQ1,KCNQ1-AS1c.1475A>T (p.Asp492Val)
c.1832A>T (p.Asp611Val)
c.1451A>T (p.Asp484Val)
c.236A>T (p.Asp79Val)
n.339A>T
n.778-7362T>A
11g.2847805C>ACA379140251KCNQ1,KCNQ1-AS1c.1476C>A (p.Asp492Glu)
c.1833C>A (p.Asp611Glu)
c.1452C>A (p.Asp484Glu)
c.237C>A (p.Asp79Glu)
n.340C>A
n.778-7363G>T
11g.2847805C>GCA379140252KCNQ1,KCNQ1-AS1c.1476C>G (p.Asp492Glu)
c.1833C>G (p.Asp611Glu)
c.1452C>G (p.Asp484Glu)
c.237C>G (p.Asp79Glu)
n.340C>G
n.778-7363G>C
11g.2847805C>TCA472466199KCNQ1,KCNQ1-AS1c.1476C>T (p.Asp492=)
c.1833C>T (p.Asp611=)
c.1452C>T (p.Asp484=)
c.237C>T (p.Asp79=)
n.340C>T
n.778-7363G>A
 gnomAD v4
11g.2847806A>CCA379140254KCNQ1,KCNQ1-AS1c.1477A>C (p.Met493Leu)
c.1834A>C (p.Met612Leu)
c.1453A>C (p.Met485Leu)
c.238A>C (p.Met80Leu)
n.341A>C
n.778-7364T>G
11g.2847806A>GCA379140255KCNQ1,KCNQ1-AS1c.1477A>G (p.Met493Val)
c.1834A>G (p.Met612Val)
c.1453A>G (p.Met485Val)
c.238A>G (p.Met80Val)
n.341A>G
n.778-7364T>C
 gnomAD v4
11g.2847806A>TCA379140253KCNQ1,KCNQ1-AS1c.1477A>T (p.Met493Leu)
c.1834A>T (p.Met612Leu)
c.1453A>T (p.Met485Leu)
c.238A>T (p.Met80Leu)
n.341A>T
n.778-7364T>A
11g.2847807T>ACA379140258KCNQ1,KCNQ1-AS1c.1478T>A (p.Met493Lys)
c.1835T>A (p.Met612Lys)
c.1454T>A (p.Met485Lys)
c.239T>A (p.Met80Lys)
n.342T>A
n.778-7365A>T
11g.2847807T>CCA379140256KCNQ1,KCNQ1-AS1c.1478T>C (p.Met493Thr)
c.1835T>C (p.Met612Thr)
c.1454T>C (p.Met485Thr)
c.239T>C (p.Met80Thr)
n.342T>C
n.778-7365A>G
11g.2847807T>GCA379140257KCNQ1,KCNQ1-AS1c.1478T>G (p.Met493Arg)
c.1835T>G (p.Met612Arg)
c.1454T>G (p.Met485Arg)
c.239T>G (p.Met80Arg)
n.342T>G
n.778-7365A>C
11g.2847808G>ACA10582887KCNQ1,KCNQ1-AS1c.1479G>A (p.Met493Ile)
c.1836G>A (p.Met612Ile)
c.1455G>A (p.Met485Ile)
c.240G>A (p.Met80Ile)
n.343G>A
n.778-7366C>T
 ClinVar dbSNP gnomAD v4
11g.2847808G>CCA379140259KCNQ1,KCNQ1-AS1c.1479G>C (p.Met493Ile)
c.1836G>C (p.Met612Ile)
c.1455G>C (p.Met485Ile)
c.240G>C (p.Met80Ile)
n.343G>C
n.778-7366C>G
11g.2847808G=CA1948349604KCNQ1,KCNQ1-AS1c.1479G= (p.Met493=)
c.1836G= (p.Met612=)
c.1455G= (p.Met485=)
c.240G= (p.Met80=)
n.343G=
n.778-7366C=
11g.2847808G>TCA379140260KCNQ1,KCNQ1-AS1c.1479G>T (p.Met493Ile)
c.1836G>T (p.Met612Ile)
c.1455G>T (p.Met485Ile)
c.240G>T (p.Met80Ile)
n.343G>T
n.778-7366C>A
 gnomAD v4
11g.2847809C>ACA379140262KCNQ1,KCNQ1-AS1c.1480C>A (p.Leu494Ile)
c.1837C>A (p.Leu613Ile)
c.1456C>A (p.Leu486Ile)
c.241C>A (p.Leu81Ile)
n.344C>A
n.778-7367G>T
 gnomAD v4
11g.2847809C=CA1948349605KCNQ1,KCNQ1-AS1c.1480C= (p.Leu494=)
c.1837C= (p.Leu613=)
c.1456C= (p.Leu486=)
c.241C= (p.Leu81=)
n.344C=
n.778-7367G=
11g.2847809C>GCA379140261KCNQ1,KCNQ1-AS1c.1480C>G (p.Leu494Val)
c.1837C>G (p.Leu613Val)
c.1456C>G (p.Leu486Val)
c.241C>G (p.Leu81Val)
n.344C>G
n.778-7367G>C
11g.2847809C>TCA033320KCNQ1,KCNQ1-AS1c.1480C>T (p.Leu494Phe)
c.1837C>T (p.Leu613Phe)
c.1456C>T (p.Leu486Phe)
c.241C>T (p.Leu81Phe)
n.344C>T
n.778-7367G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847810T>ACA379140263KCNQ1,KCNQ1-AS1c.1481T>A (p.Leu494His)
c.1838T>A (p.Leu613His)
c.1457T>A (p.Leu486His)
c.242T>A (p.Leu81His)
n.345T>A
n.778-7368A>T
 gnomAD v4
11g.2847810T>CCA379140264KCNQ1,KCNQ1-AS1c.1481T>C (p.Leu494Pro)
c.1838T>C (p.Leu613Pro)
c.1457T>C (p.Leu486Pro)
c.242T>C (p.Leu81Pro)
n.345T>C
n.778-7368A>G
 ClinVar dbSNP gnomAD v4
11g.2847810T>GCA379140265KCNQ1,KCNQ1-AS1c.1481T>G (p.Leu494Arg)
c.1838T>G (p.Leu613Arg)
c.1457T>G (p.Leu486Arg)
c.242T>G (p.Leu81Arg)
n.345T>G
n.778-7368A>C
11g.2847810T=CA1948349606KCNQ1,KCNQ1-AS1c.1481T= (p.Leu494=)
c.1838T= (p.Leu613=)
c.1457T= (p.Leu486=)
c.242T= (p.Leu81=)
n.345T=
n.778-7368A=
11g.2847811T>ACA472466225KCNQ1,KCNQ1-AS1c.1482T>A (p.Leu494=)
c.1839T>A (p.Leu613=)
c.1458T>A (p.Leu486=)
c.243T>A (p.Leu81=)
n.346T>A
n.778-7369A>T
 ClinVar gnomAD v4
11g.2847811T>CCA472466228KCNQ1,KCNQ1-AS1c.1482T>C (p.Leu494=)
c.1839T>C (p.Leu613=)
c.1458T>C (p.Leu486=)
c.243T>C (p.Leu81=)
n.346T>C
n.778-7369A>G
 gnomAD v4
11g.2847811T>GCA472466230KCNQ1,KCNQ1-AS1c.1482T>G (p.Leu494=)
c.1839T>G (p.Leu613=)
c.1458T>G (p.Leu486=)
c.243T>G (p.Leu81=)
n.346T>G
n.778-7369A>C
11g.2847811_2847814delinsTCACCA1948349607KCNQ1,KCNQ1-AS1c.1482_1485delinsTCAC (p.Leu494=)
c.1839_1842delinsTCAC (p.Leu613=)
c.1458_1461delinsTCAC (p.Leu486=)
c.243_246delinsTCAC (p.Leu81=)
n.346_349delinsTCAC
n.778-7372_778-7369delinsGTGA
11g.2847812C>ACA379140266KCNQ1,KCNQ1-AS1c.1483C>A (p.His495Asn)
c.1840C>A (p.His614Asn)
c.1459C>A (p.His487Asn)
c.244C>A (p.His82Asn)
n.347C>A
n.778-7370G>T
 gnomAD v4
11g.2847812C=CA1948349608KCNQ1,KCNQ1-AS1c.1483C= (p.His495=)
c.1840C= (p.His614=)
c.1459C= (p.His487=)
c.244C= (p.His82=)
n.347C=
n.778-7370G=
11g.2847812C>GCA379140267KCNQ1,KCNQ1-AS1c.1483C>G (p.His495Asp)
c.1840C>G (p.His614Asp)
c.1459C>G (p.His487Asp)
c.244C>G (p.His82Asp)
n.347C>G
n.778-7370G>C
11g.2847812C>TCA379140268KCNQ1,KCNQ1-AS1c.1483C>T (p.His495Tyr)
c.1840C>T (p.His614Tyr)
c.1459C>T (p.His487Tyr)
c.244C>T (p.His82Tyr)
n.347C>T
n.778-7370G>A
 dbSNP
11g.2847814_2847816delCA006491KCNQ1,KCNQ1-AS1c.1485_1487del (p.His495del)
c.1842_1844del (p.His614del)
c.1461_1463del (p.His487del)
c.246_248del (p.His82del)
n.349_351del
n.778-7372_778-7370del
 ClinVar dbSNP
11g.2847813A>CCA379140269KCNQ1,KCNQ1-AS1c.1484A>C (p.His495Pro)
c.1841A>C (p.His614Pro)
c.1460A>C (p.His487Pro)
c.245A>C (p.His82Pro)
n.348A>C
n.778-7371T>G
11g.2847813A>GCA379140271KCNQ1,KCNQ1-AS1c.1484A>G (p.His495Arg)
c.1841A>G (p.His614Arg)
c.1460A>G (p.His487Arg)
c.245A>G (p.His82Arg)
n.348A>G
n.778-7371T>C
11g.2847813A>TCA379140270KCNQ1,KCNQ1-AS1c.1484A>T (p.His495Leu)
c.1841A>T (p.His614Leu)
c.1460A>T (p.His487Leu)
c.245A>T (p.His82Leu)
n.348A>T
n.778-7371T>A
 ClinVar
11g.2847814C>ACA379140272KCNQ1,KCNQ1-AS1c.1485C>A (p.His495Gln)
c.1842C>A (p.His614Gln)
c.1461C>A (p.His487Gln)
c.246C>A (p.His82Gln)
n.349C>A
n.778-7372G>T
 gnomAD v4
11g.2847814C>GCA379140273KCNQ1,KCNQ1-AS1c.1485C>G (p.His495Gln)
c.1842C>G (p.His614Gln)
c.1461C>G (p.His487Gln)
c.246C>G (p.His82Gln)
n.349C>G
n.778-7372G>C
11g.2847814C>TCA472466243KCNQ1,KCNQ1-AS1c.1485C>T (p.His495=)
c.1842C>T (p.His614=)
c.1461C>T (p.His487=)
c.246C>T (p.His82=)
n.349C>T
n.778-7372G>A
 gnomAD v4
11g.2847815C>ACA379140274KCNQ1,KCNQ1-AS1c.1486C>A (p.Gln496Lys)
c.1843C>A (p.Gln615Lys)
c.1462C>A (p.Gln488Lys)
c.247C>A (p.Gln83Lys)
n.350C>A
n.778-7373G>T
 gnomAD v4
11g.2847815C>GCA379140275KCNQ1,KCNQ1-AS1c.1486C>G (p.Gln496Glu)
c.1843C>G (p.Gln615Glu)
c.1462C>G (p.Gln488Glu)
c.247C>G (p.Gln83Glu)
n.350C>G
n.778-7373G>C
11g.2847815C>TCA379140276KCNQ1,KCNQ1-AS1c.1486C>T (p.Gln496Ter)
c.1843C>T (p.Gln615Ter)
c.1462C>T (p.Gln488Ter)
c.247C>T (p.Gln83Ter)
n.350C>T
n.778-7373G>A
11g.2847816A=CA1948349609KCNQ1,KCNQ1-AS1c.1487A= (p.Gln496=)
c.1844A= (p.Gln615=)
c.1463A= (p.Gln488=)
c.248A= (p.Gln83=)
n.351A=
n.778-7374T=
11g.2847816A>CCA379140277KCNQ1,KCNQ1-AS1c.1487A>C (p.Gln496Pro)
c.1844A>C (p.Gln615Pro)
c.1463A>C (p.Gln488Pro)
c.248A>C (p.Gln83Pro)
n.351A>C
n.778-7374T>G
11g.2847816A>GCA379140278KCNQ1,KCNQ1-AS1c.1487A>G (p.Gln496Arg)
c.1844A>G (p.Gln615Arg)
c.1463A>G (p.Gln488Arg)
c.248A>G (p.Gln83Arg)
n.351A>G
n.778-7374T>C
 ClinVar dbSNP gnomAD v4
11g.2847816A>TCA379140279KCNQ1,KCNQ1-AS1c.1487A>T (p.Gln496Leu)
c.1844A>T (p.Gln615Leu)
c.1463A>T (p.Gln488Leu)
c.248A>T (p.Gln83Leu)
n.351A>T
n.778-7374T>A
11g.2847817G>ACA472466257KCNQ1,KCNQ1-AS1c.1488G>A (p.Gln496=)
c.1845G>A (p.Gln615=)
c.1464G>A (p.Gln488=)
c.249G>A (p.Gln83=)
n.352G>A
n.778-7375C>T
 gnomAD v4
11g.2847817G>CCA379140280KCNQ1,KCNQ1-AS1c.1488G>C (p.Gln496His)
c.1845G>C (p.Gln615His)
c.1464G>C (p.Gln488His)
c.249G>C (p.Gln83His)
n.352G>C
n.778-7375C>G
11g.2847817G>TCA379140281KCNQ1,KCNQ1-AS1c.1488G>T (p.Gln496His)
c.1845G>T (p.Gln615His)
c.1464G>T (p.Gln488His)
c.249G>T (p.Gln83His)
n.352G>T
n.778-7375C>A
 ClinVar gnomAD v4
11g.2847820_2847822dupCA2612011183KCNQ1,KCNQ1-AS1c.1491_1493dup (p.Leu498_Ser499insLeu)
c.1848_1850dup (p.Leu617_Ser618insLeu)
c.1467_1469dup (p.Leu490_Ser491insLeu)
c.252_254dup (p.Leu85_Ser86insLeu)
n.355_357dup
n.778-7377_778-7375dup
 gnomAD v4
11g.2847818C>ACA379140283KCNQ1,KCNQ1-AS1c.1489C>A (p.Leu497Met)
c.1846C>A (p.Leu616Met)
c.1465C>A (p.Leu489Met)
c.250C>A (p.Leu84Met)
n.353C>A
n.778-7376G>T
 gnomAD v4
11g.2847818C>GCA379140282KCNQ1,KCNQ1-AS1c.1489C>G (p.Leu497Val)
c.1846C>G (p.Leu616Val)
c.1465C>G (p.Leu489Val)
c.250C>G (p.Leu84Val)
n.353C>G
n.778-7376G>C
11g.2847818C>TCA472466267KCNQ1,KCNQ1-AS1c.1489C>T (p.Leu497=)
c.1846C>T (p.Leu616=)
c.1465C>T (p.Leu489=)
c.250C>T (p.Leu84=)
n.353C>T
n.778-7376G>A
 ClinVar gnomAD v4
11g.2847819T>ACA379140284KCNQ1,KCNQ1-AS1c.1490T>A (p.Leu497Gln)
c.1847T>A (p.Leu616Gln)
c.1466T>A (p.Leu489Gln)
c.251T>A (p.Leu84Gln)
n.354T>A
n.778-7377A>T
11g.2847819T>CCA379140285KCNQ1,KCNQ1-AS1c.1490T>C (p.Leu497Pro)
c.1847T>C (p.Leu616Pro)
c.1466T>C (p.Leu489Pro)
c.251T>C (p.Leu84Pro)
n.354T>C
n.778-7377A>G
11g.2847819T>GCA379140286KCNQ1,KCNQ1-AS1c.1490T>G (p.Leu497Arg)
c.1847T>G (p.Leu616Arg)
c.1466T>G (p.Leu489Arg)
c.251T>G (p.Leu84Arg)
n.354T>G
n.778-7377A>C
11g.2847820G>ACA033346KCNQ1,KCNQ1-AS1c.1491G>A (p.Leu497=)
c.1848G>A (p.Leu616=)
c.1467G>A (p.Leu489=)
c.252G>A (p.Leu84=)
n.355G>A
n.778-7378C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2847820G>CCA472466282KCNQ1,KCNQ1-AS1c.1491G>C (p.Leu497=)
c.1848G>C (p.Leu616=)
c.1467G>C (p.Leu489=)
c.252G>C (p.Leu84=)
n.355G>C
n.778-7378C>G
11g.2847820G=CA1948349610KCNQ1,KCNQ1-AS1c.1491G= (p.Leu497=)
c.1848G= (p.Leu616=)
c.1467G= (p.Leu489=)
c.252G= (p.Leu84=)
n.355G=
n.778-7378C=
11g.2847820G>TCA472466283KCNQ1,KCNQ1-AS1c.1491G>T (p.Leu497=)
c.1848G>T (p.Leu616=)
c.1467G>T (p.Leu489=)
c.252G>T (p.Leu84=)
n.355G>T
n.778-7378C>A
 gnomAD v4
11g.2847821C>ACA379140287KCNQ1,KCNQ1-AS1c.1492C>A (p.Leu498Ile)
c.1849C>A (p.Leu617Ile)
c.1468C>A (p.Leu490Ile)
c.253C>A (p.Leu85Ile)
n.356C>A
n.778-7379G>T
 gnomAD v4
11g.2847821C=CA1948349611KCNQ1,KCNQ1-AS1c.1492C= (p.Leu498=)
c.1849C= (p.Leu617=)
c.1468C= (p.Leu490=)
c.253C= (p.Leu85=)
n.356C=
n.778-7379G=
11g.2847821C>GCA379140288KCNQ1,KCNQ1-AS1c.1492C>G (p.Leu498Val)
c.1849C>G (p.Leu617Val)
c.1468C>G (p.Leu490Val)
c.253C>G (p.Leu85Val)
n.356C>G
n.778-7379G>C
11g.2847821C>TCA379140289KCNQ1,KCNQ1-AS1c.1492C>T (p.Leu498Phe)
c.1849C>T (p.Leu617Phe)
c.1468C>T (p.Leu490Phe)
c.253C>T (p.Leu85Phe)
n.356C>T
n.778-7379G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2847822T>ACA379140290KCNQ1,KCNQ1-AS1c.1493T>A (p.Leu498His)
c.1850T>A (p.Leu617His)
c.1469T>A (p.Leu490His)
c.254T>A (p.Leu85His)
n.357T>A
n.778-7380A>T
11g.2847822T>CCA379140291KCNQ1,KCNQ1-AS1c.1493T>C (p.Leu498Pro)
c.1850T>C (p.Leu617Pro)
c.1469T>C (p.Leu490Pro)
c.254T>C (p.Leu85Pro)
n.357T>C
n.778-7380A>G
 gnomAD v4
11g.2847822T>GCA379140292KCNQ1,KCNQ1-AS1c.1493T>G (p.Leu498Arg)
c.1850T>G (p.Leu617Arg)
c.1469T>G (p.Leu490Arg)
c.254T>G (p.Leu85Arg)
n.357T>G
n.778-7380A>C
11g.2847823C>ACA472466315KCNQ1,KCNQ1-AS1c.1494C>A (p.Leu498=)
c.1851C>A (p.Leu617=)
c.1470C>A (p.Leu490=)
c.255C>A (p.Leu85=)
n.358C>A
n.778-7381G>T
 gnomAD v4
11g.2847823C=CA1948349612KCNQ1,KCNQ1-AS1c.1494C= (p.Leu498=)
c.1851C= (p.Leu617=)
c.1470C= (p.Leu490=)
c.255C= (p.Leu85=)
n.358C=
n.778-7381G=
11g.2847823C>GCA472466317KCNQ1,KCNQ1-AS1c.1494C>G (p.Leu498=)
c.1851C>G (p.Leu617=)
c.1470C>G (p.Leu490=)
c.255C>G (p.Leu85=)
n.358C>G
n.778-7381G>C
11g.2847823C>TCA216345078KCNQ1,KCNQ1-AS1c.1494C>T (p.Leu498=)
c.1851C>T (p.Leu617=)
c.1470C>T (p.Leu490=)
c.255C>T (p.Leu85=)
n.358C>T
n.778-7381G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847824delCA645569416KCNQ1,KCNQ1-AS1c.1495del (p.Ser499ProfsTer?)
c.1852del (p.Ser618ProfsTer?)
c.1471del (p.Ser491ProfsTer?)
c.256del (p.Ser86ProfsTer?)
n.359del
n.778-7382del
 COSMIC COSMIC
11g.2847824T>ACA379140293KCNQ1,KCNQ1-AS1c.1495T>A (p.Ser499Thr)
c.1852T>A (p.Ser618Thr)
c.1471T>A (p.Ser491Thr)
c.256T>A (p.Ser86Thr)
n.359T>A
n.778-7382A>T
11g.2847824T>CCA379140294KCNQ1,KCNQ1-AS1c.1495T>C (p.Ser499Pro)
c.1852T>C (p.Ser618Pro)
c.1471T>C (p.Ser491Pro)
c.256T>C (p.Ser86Pro)
n.359T>C
n.778-7382A>G
11g.2847824T>GCA379140295KCNQ1,KCNQ1-AS1c.1495T>G (p.Ser499Ala)
c.1852T>G (p.Ser618Ala)
c.1471T>G (p.Ser491Ala)
c.256T>G (p.Ser86Ala)
n.359T>G
n.778-7382A>C
11g.2847825C>ACA379140297KCNQ1,KCNQ1-AS1c.1496C>A (p.Ser499Tyr)
c.1853C>A (p.Ser618Tyr)
c.1472C>A (p.Ser491Tyr)
c.257C>A (p.Ser86Tyr)
n.360C>A
n.778-7383G>T
11g.2847825C=CA1948349613KCNQ1,KCNQ1-AS1c.1496C= (p.Ser499=)
c.1853C= (p.Ser618=)
c.1472C= (p.Ser491=)
c.257C= (p.Ser86=)
n.360C=
n.778-7383G=
11g.2847825C>GCA379140298KCNQ1,KCNQ1-AS1c.1496C>G (p.Ser499Cys)
c.1853C>G (p.Ser618Cys)
c.1472C>G (p.Ser491Cys)
c.257C>G (p.Ser86Cys)
n.360C>G
n.778-7383G>C
11g.2847825C>TCA379140296KCNQ1,KCNQ1-AS1c.1496C>T (p.Ser499Phe)
c.1853C>T (p.Ser618Phe)
c.1472C>T (p.Ser491Phe)
c.257C>T (p.Ser86Phe)
n.360C>T
n.778-7383G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2847826C>ACA472466322KCNQ1,KCNQ1-AS1c.1497C>A (p.Ser499=)
c.1854C>A (p.Ser618=)
c.1473C>A (p.Ser491=)
c.258C>A (p.Ser86=)
n.361C>A
n.778-7384G>T
 gnomAD v4
11g.2847826C=CA1948349614KCNQ1,KCNQ1-AS1c.1497C= (p.Ser499=)
c.1854C= (p.Ser618=)
c.1473C= (p.Ser491=)
c.258C= (p.Ser86=)
n.361C=
n.778-7384G=
11g.2847826C>GCA472466324KCNQ1,KCNQ1-AS1c.1497C>G (p.Ser499=)
c.1854C>G (p.Ser618=)
c.1473C>G (p.Ser491=)
c.258C>G (p.Ser86=)
n.361C>G
n.778-7384G>C
11g.2847826C>TCA033369KCNQ1,KCNQ1-AS1c.1497C>T (p.Ser499=)
c.1854C>T (p.Ser618=)
c.1473C>T (p.Ser491=)
c.258C>T (p.Ser86=)
n.361C>T
n.778-7384G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847827T>ACA006511KCNQ1,KCNQ1-AS1c.1498T>A (p.Leu500Met)
c.1855T>A (p.Leu619Met)
c.1474T>A (p.Leu492Met)
c.259T>A (p.Leu87Met)
n.362T>A
n.778-7385A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847827T>CCA472466328KCNQ1,KCNQ1-AS1c.1498T>C (p.Leu500=)
c.1855T>C (p.Leu619=)
c.1474T>C (p.Leu492=)
c.259T>C (p.Leu87=)
n.362T>C
n.778-7385A>G
 gnomAD v4
11g.2847827T>GCA379140299KCNQ1,KCNQ1-AS1c.1498T>G (p.Leu500Val)
c.1855T>G (p.Leu619Val)
c.1474T>G (p.Leu492Val)
c.259T>G (p.Leu87Val)
n.362T>G
n.778-7385A>C
11g.2847827T=CA1948349615KCNQ1,KCNQ1-AS1c.1498T= (p.Leu500=)
c.1855T= (p.Leu619=)
c.1474T= (p.Leu492=)
c.259T= (p.Leu87=)
n.362T=
n.778-7385A=
11g.2847828T>ACA379140300KCNQ1,KCNQ1-AS1c.1499T>A (p.Leu500Ter)
c.1856T>A (p.Leu619Ter)
c.1475T>A (p.Leu492Ter)
c.260T>A (p.Leu87Ter)
n.363T>A
n.778-7386A>T
11g.2847828T>CCA379140301KCNQ1,KCNQ1-AS1c.1499T>C (p.Leu500Ser)
c.1856T>C (p.Leu619Ser)
c.1475T>C (p.Leu492Ser)
c.260T>C (p.Leu87Ser)
n.363T>C
n.778-7386A>G
 gnomAD v4
11g.2847828T>GCA379140302KCNQ1,KCNQ1-AS1c.1499T>G (p.Leu500Trp)
c.1856T>G (p.Leu619Trp)
c.1475T>G (p.Leu492Trp)
c.260T>G (p.Leu87Trp)
n.363T>G
n.778-7386A>C
11g.2847829G>ACA472466342KCNQ1,KCNQ1-AS1c.1500G>A (p.Leu500=)
c.1857G>A (p.Leu619=)
c.1476G>A (p.Leu492=)
c.261G>A (p.Leu87=)
n.364G>A
n.778-7387C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847829G>CCA379140303KCNQ1,KCNQ1-AS1c.1500G>C (p.Leu500Phe)
c.1857G>C (p.Leu619Phe)
c.1476G>C (p.Leu492Phe)
c.261G>C (p.Leu87Phe)
n.364G>C
n.778-7387C>G
 gnomAD v4
11g.2847829G=CA1948349616KCNQ1,KCNQ1-AS1c.1500G= (p.Leu500=)
c.1857G= (p.Leu619=)
c.1476G= (p.Leu492=)
c.261G= (p.Leu87=)
n.364G=
n.778-7387C=
11g.2847829G>TCA379140304KCNQ1,KCNQ1-AS1c.1500G>T (p.Leu500Phe)
c.1857G>T (p.Leu619Phe)
c.1476G>T (p.Leu492Phe)
c.261G>T (p.Leu87Phe)
n.364G>T
n.778-7387C>A
 gnomAD v4
11g.2847830C>ACA379140305KCNQ1,KCNQ1-AS1c.1501C>A (p.His501Asn)
c.1858C>A (p.His620Asn)
c.1477C>A (p.His493Asn)
c.262C>A (p.His88Asn)
n.365C>A
n.778-7388G>T
11g.2847830C>GCA379140306KCNQ1,KCNQ1-AS1c.1501C>G (p.His501Asp)
c.1858C>G (p.His620Asp)
c.1477C>G (p.His493Asp)
c.262C>G (p.His88Asp)
n.365C>G
n.778-7388G>C
 ClinVar dbSNP
11g.2847830C>TCA379140307KCNQ1,KCNQ1-AS1c.1501C>T (p.His501Tyr)
c.1858C>T (p.His620Tyr)
c.1477C>T (p.His493Tyr)
c.262C>T (p.His88Tyr)
n.365C>T
n.778-7388G>A
 gnomAD v4
11g.2847831A=CA1948349617KCNQ1,KCNQ1-AS1c.1502A= (p.His501=)
c.1859A= (p.His620=)
c.1478A= (p.His493=)
c.263A= (p.His88=)
n.366A=
n.778-7389T=
11g.2847831A>CCA379140308KCNQ1,KCNQ1-AS1c.1502A>C (p.His501Pro)
c.1859A>C (p.His620Pro)
c.1478A>C (p.His493Pro)
c.263A>C (p.His88Pro)
n.366A>C
n.778-7389T>G
11g.2847831A>GCA379140309KCNQ1,KCNQ1-AS1c.1502A>G (p.His501Arg)
c.1859A>G (p.His620Arg)
c.1478A>G (p.His493Arg)
c.263A>G (p.His88Arg)
n.366A>G
n.778-7389T>C
 gnomAD v4
11g.2847831A>TCA379140310KCNQ1,KCNQ1-AS1c.1502A>T (p.His501Leu)
c.1859A>T (p.His620Leu)
c.1478A>T (p.His493Leu)
c.263A>T (p.His88Leu)
n.366A>T
n.778-7389T>A
11g.2847832C>ACA379140311KCNQ1,KCNQ1-AS1c.1503C>A (p.His501Gln)
c.1860C>A (p.His620Gln)
c.1479C>A (p.His493Gln)
c.264C>A (p.His88Gln)
n.367C>A
n.778-7390G>T
 gnomAD v4
11g.2847832C=CA1948349618KCNQ1,KCNQ1-AS1c.1503C= (p.His501=)
c.1860C= (p.His620=)
c.1479C= (p.His493=)
c.264C= (p.His88=)
n.367C=
n.778-7390G=
11g.2847832C>GCA379140312KCNQ1,KCNQ1-AS1c.1503C>G (p.His501Gln)
c.1860C>G (p.His620Gln)
c.1479C>G (p.His493Gln)
c.264C>G (p.His88Gln)
n.367C>G
n.778-7390G>C
11g.2847832C>TCA006519KCNQ1,KCNQ1-AS1c.1503C>T (p.His501=)
c.1860C>T (p.His620=)
c.1479C>T (p.His493=)
c.264C>T (p.His88=)
n.367C>T
n.778-7390G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847835_2847849dupCA2573053485KCNQ1,KCNQ1-AS1c.1506_1520dup (p.Gly507_Ser508insGlySerThrProGly)
c.1863_1877dup (p.Gly626_Ser627insGlySerThrProGly)
c.1482_1496dup (p.Gly499_Ser500insGlySerThrProGly)
c.267_281dup (p.Gly94_Ser95insGlySerThrProGly)
n.370_384dup
n.778-7404_778-7390dup
 ClinVar dbSNP
11g.2847833_2847850dupCA597432740KCNQ1,KCNQ1-AS1c.1504_1521dup (p.Gly507_Ser508insGlyGlySerThrProGly)
c.1861_1878dup (p.Gly626_Ser627insGlyGlySerThrProGly)
c.1480_1497dup (p.Gly499_Ser500insGlyGlySerThrProGly)
c.265_282dup (p.Gly94_Ser95insGlyGlySerThrProGly)
n.368_385dup
n.778-7407_778-7390dup
 dbSNP gnomAD v2 gnomAD v4
11g.2847833G>ACA006526KCNQ1,KCNQ1-AS1c.1504G>A (p.Gly502Ser)
c.1861G>A (p.Gly621Ser)
c.1480G>A (p.Gly494Ser)
c.265G>A (p.Gly89Ser)
n.368G>A
n.778-7391C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847833G>CCA379140313KCNQ1,KCNQ1-AS1c.1504G>C (p.Gly502Arg)
c.1861G>C (p.Gly621Arg)
c.1480G>C (p.Gly494Arg)
c.265G>C (p.Gly89Arg)
n.368G>C
n.778-7391C>G
 gnomAD v4
11g.2847833G=CA1948349619KCNQ1,KCNQ1-AS1c.1504G= (p.Gly502=)
c.1861G= (p.Gly621=)
c.1480G= (p.Gly494=)
c.265G= (p.Gly89=)
n.368G=
n.778-7391C=
11g.2847833G>TCA379140314KCNQ1,KCNQ1-AS1c.1504G>T (p.Gly502Cys)
c.1861G>T (p.Gly621Cys)
c.1480G>T (p.Gly494Cys)
c.265G>T (p.Gly89Cys)
n.368G>T
n.778-7391C>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847834dupCA2574728562KCNQ1,KCNQ1-AS1c.1505dup (p.Gly503TrpfsTer30)
c.1862dup (p.Gly622TrpfsTer30)
c.1481dup (p.Gly495TrpfsTer30)
c.266dup (p.Gly90TrpfsTer30)
n.369dup
n.778-7391dup
11g.2847834G>ACA379140315KCNQ1,KCNQ1-AS1c.1505G>A (p.Gly502Asp)
c.1862G>A (p.Gly621Asp)
c.1481G>A (p.Gly494Asp)
c.266G>A (p.Gly89Asp)
n.369G>A
n.778-7392C>T
 ClinVar dbSNP gnomAD v4
11g.2847834G>CCA379140317KCNQ1,KCNQ1-AS1c.1505G>C (p.Gly502Ala)
c.1862G>C (p.Gly621Ala)
c.1481G>C (p.Gly494Ala)
c.266G>C (p.Gly89Ala)
n.369G>C
n.778-7392C>G
 gnomAD v4
11g.2847834G=CA1948349620KCNQ1,KCNQ1-AS1c.1505G= (p.Gly502=)
c.1862G= (p.Gly621=)
c.1481G= (p.Gly494=)
c.266G= (p.Gly89=)
n.369G=
n.778-7392C=
11g.2847834G>TCA379140316KCNQ1,KCNQ1-AS1c.1505G>T (p.Gly502Val)
c.1862G>T (p.Gly621Val)
c.1481G>T (p.Gly494Val)
c.266G>T (p.Gly89Val)
n.369G>T
n.778-7392C>A
11g.2847834_2847845dupCA2612011237KCNQ1,KCNQ1-AS1c.1505_1516dup (p.Thr505_Pro506insArgGlySerThr)
c.1862_1873dup (p.Thr624_Pro625insArgGlySerThr)
c.1481_1492dup (p.Thr497_Pro498insArgGlySerThr)
c.266_277dup (p.Thr92_Pro93insArgGlySerThr)
n.369_380dup
n.778-7403_778-7392dup
 dbSNP gnomAD v4
11g.2847835T>ACA472466376KCNQ1,KCNQ1-AS1c.1506T>A (p.Gly502=)
c.1863T>A (p.Gly621=)
c.1482T>A (p.Gly494=)
c.267T>A (p.Gly89=)
n.370T>A
n.778-7393A>T
 gnomAD v4
11g.2847835T>CCA472466378KCNQ1,KCNQ1-AS1c.1506T>C (p.Gly502=)
c.1863T>C (p.Gly621=)
c.1482T>C (p.Gly494=)
c.267T>C (p.Gly89=)
n.370T>C
n.778-7393A>G
11g.2847835T>GCA472466380KCNQ1,KCNQ1-AS1c.1506T>G (p.Gly502=)
c.1863T>G (p.Gly621=)
c.1482T>G (p.Gly494=)
c.267T>G (p.Gly89=)
n.370T>G
n.778-7393A>C
11g.2847836G>ACA379140318KCNQ1,KCNQ1-AS1c.1507G>A (p.Gly503Ser)
c.1864G>A (p.Gly622Ser)
c.1483G>A (p.Gly495Ser)
c.268G>A (p.Gly90Ser)
n.371G>A
n.778-7394C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847836G>CCA379140320KCNQ1,KCNQ1-AS1c.1507G>C (p.Gly503Arg)
c.1864G>C (p.Gly622Arg)
c.1483G>C (p.Gly495Arg)
c.268G>C (p.Gly90Arg)
n.371G>C
n.778-7394C>G
11g.2847836G=CA1948349621KCNQ1,KCNQ1-AS1c.1507G= (p.Gly503=)
c.1864G= (p.Gly622=)
c.1483G= (p.Gly495=)
c.268G= (p.Gly90=)
n.371G=
n.778-7394C=
11g.2847836G>TCA379140319KCNQ1,KCNQ1-AS1c.1507G>T (p.Gly503Cys)
c.1864G>T (p.Gly622Cys)
c.1483G>T (p.Gly495Cys)
c.268G>T (p.Gly90Cys)
n.371G>T
n.778-7394C>A
 gnomAD v4
11g.2847837G>ACA379140321KCNQ1,KCNQ1-AS1c.1508G>A (p.Gly503Asp)
c.1865G>A (p.Gly622Asp)
c.1484G>A (p.Gly495Asp)
c.269G>A (p.Gly90Asp)
n.372G>A
n.778-7395C>T
 gnomAD v4
11g.2847837G>CCA379140323KCNQ1,KCNQ1-AS1c.1508G>C (p.Gly503Ala)
c.1865G>C (p.Gly622Ala)
c.1484G>C (p.Gly495Ala)
c.269G>C (p.Gly90Ala)
n.372G>C
n.778-7395C>G
11g.2847837G>TCA379140322KCNQ1,KCNQ1-AS1c.1508G>T (p.Gly503Val)
c.1865G>T (p.Gly622Val)
c.1484G>T (p.Gly495Val)
c.269G>T (p.Gly90Val)
n.372G>T
n.778-7395C>A
 gnomAD v4
11g.2847838C>ACA472466404KCNQ1,KCNQ1-AS1c.1509C>A (p.Gly503=)
c.1866C>A (p.Gly622=)
c.1485C>A (p.Gly495=)
c.270C>A (p.Gly90=)
n.373C>A
n.778-7396G>T
 gnomAD v4
11g.2847838C=CA1948349622KCNQ1,KCNQ1-AS1c.1509C= (p.Gly503=)
c.1866C= (p.Gly622=)
c.1485C= (p.Gly495=)
c.270C= (p.Gly90=)
n.373C=
n.778-7396G=
11g.2847838C>GCA472466408KCNQ1,KCNQ1-AS1c.1509C>G (p.Gly503=)
c.1866C>G (p.Gly622=)
c.1485C>G (p.Gly495=)
c.270C>G (p.Gly90=)
n.373C>G
n.778-7396G>C
11g.2847838C>TCA472466410KCNQ1,KCNQ1-AS1c.1509C>T (p.Gly503=)
c.1866C>T (p.Gly622=)
c.1485C>T (p.Gly495=)
c.270C>T (p.Gly90=)
n.373C>T
n.778-7396G>A
 dbSNP gnomAD v2 gnomAD v4
11g.2847839A>CCA379140324KCNQ1,KCNQ1-AS1c.1510A>C (p.Ser504Arg)
c.1867A>C (p.Ser623Arg)
c.1486A>C (p.Ser496Arg)
c.271A>C (p.Ser91Arg)
n.374A>C
n.778-7397T>G
11g.2847839A>GCA379140326KCNQ1,KCNQ1-AS1c.1510A>G (p.Ser504Gly)
c.1867A>G (p.Ser623Gly)
c.1486A>G (p.Ser496Gly)
c.271A>G (p.Ser91Gly)
n.374A>G
n.778-7397T>C
 ClinVar gnomAD v4
11g.2847839A>TCA379140325KCNQ1,KCNQ1-AS1c.1510A>T (p.Ser504Cys)
c.1867A>T (p.Ser623Cys)
c.1486A>T (p.Ser496Cys)
c.271A>T (p.Ser91Cys)
n.374A>T
n.778-7397T>A
11g.2847840G>ACA379140327KCNQ1,KCNQ1-AS1c.1511G>A (p.Ser504Asn)
c.1868G>A (p.Ser623Asn)
c.1487G>A (p.Ser496Asn)
c.272G>A (p.Ser91Asn)
n.375G>A
n.778-7398C>T
 dbSNP gnomAD v4
11g.2847840G>CCA379140328KCNQ1,KCNQ1-AS1c.1511G>C (p.Ser504Thr)
c.1868G>C (p.Ser623Thr)
c.1487G>C (p.Ser496Thr)
c.272G>C (p.Ser91Thr)
n.375G>C
n.778-7398C>G
11g.2847840G=CA1948349623KCNQ1,KCNQ1-AS1c.1511G= (p.Ser504=)
c.1868G= (p.Ser623=)
c.1487G= (p.Ser496=)
c.272G= (p.Ser91=)
n.375G=
n.778-7398C=
11g.2847840G>TCA033431KCNQ1,KCNQ1-AS1c.1511G>T (p.Ser504Ile)
c.1868G>T (p.Ser623Ile)
c.1487G>T (p.Ser496Ile)
c.272G>T (p.Ser91Ile)
n.375G>T
n.778-7398C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847841C>ACA379140329KCNQ1,KCNQ1-AS1c.1512C>A (p.Ser504Arg)
c.1869C>A (p.Ser623Arg)
c.1488C>A (p.Ser496Arg)
c.273C>A (p.Ser91Arg)
n.376C>A
n.778-7399G>T
 gnomAD v4
11g.2847841C=CA1948349624KCNQ1,KCNQ1-AS1c.1512C= (p.Ser504=)
c.1869C= (p.Ser623=)
c.1488C= (p.Ser496=)
c.273C= (p.Ser91=)
n.376C=
n.778-7399G=
11g.2847841C>GCA379140330KCNQ1,KCNQ1-AS1c.1512C>G (p.Ser504Arg)
c.1869C>G (p.Ser623Arg)
c.1488C>G (p.Ser496Arg)
c.273C>G (p.Ser91Arg)
n.376C>G
n.778-7399G>C
11g.2847841C>TCA216345146KCNQ1,KCNQ1-AS1c.1512C>T (p.Ser504=)
c.1869C>T (p.Ser623=)
c.1488C>T (p.Ser496=)
c.273C>T (p.Ser91=)
n.376C>T
n.778-7399G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847842A=CA1948349626KCNQ1,KCNQ1-AS1c.1513A= (p.Thr505=)
c.1870A= (p.Thr624=)
c.1489A= (p.Thr497=)
c.274A= (p.Thr92=)
n.377A=
n.778-7400T=
11g.2847842A>CCA379140331KCNQ1,KCNQ1-AS1c.1513A>C (p.Thr505Pro)
c.1870A>C (p.Thr624Pro)
c.1489A>C (p.Thr497Pro)
c.274A>C (p.Thr92Pro)
n.377A>C
n.778-7400T>G
 dbSNP gnomAD v4
11g.2847842A>GCA379140332KCNQ1,KCNQ1-AS1c.1513A>G (p.Thr505Ala)
c.1870A>G (p.Thr624Ala)
c.1489A>G (p.Thr497Ala)
c.274A>G (p.Thr92Ala)
n.377A>G
n.778-7400T>C
 ClinVar dbSNP
11g.2847842A>TCA379140333KCNQ1,KCNQ1-AS1c.1513A>T (p.Thr505Ser)
c.1870A>T (p.Thr624Ser)
c.1489A>T (p.Thr497Ser)
c.274A>T (p.Thr92Ser)
n.377A>T
n.778-7400T>A
11g.2847842_2847860delinsACCCCCGGCAGCGGCGGCCCA1948349625KCNQ1,KCNQ1-AS1c.1513_1531delinsACCCCCGGCAGCGGCGGCC (p.Thr505=)
c.1870_1888delinsACCCCCGGCAGCGGCGGCC (p.Thr624=)
c.1489_1507delinsACCCCCGGCAGCGGCGGCC (p.Thr497=)
c.274_292delinsACCCCCGGCAGCGGCGGCC (p.Thr92=)
n.377_395delinsACCCCCGGCAGCGGCGGCC
n.778-7418_778-7400delinsGGCCGCCGCTGCCGGGGGT
11g.2847843C>ACA379140334KCNQ1,KCNQ1-AS1c.1514C>A (p.Thr505Asn)
c.1871C>A (p.Thr624Asn)
c.1490C>A (p.Thr497Asn)
c.275C>A (p.Thr92Asn)
n.378C>A
n.778-7401G>T
11g.2847843C=CA1948349627KCNQ1,KCNQ1-AS1c.1514C= (p.Thr505=)
c.1871C= (p.Thr624=)
c.1490C= (p.Thr497=)
c.275C= (p.Thr92=)
n.378C=
n.778-7401G=
11g.2847843C>GCA379140335KCNQ1,KCNQ1-AS1c.1514C>G (p.Thr505Ser)
c.1871C>G (p.Thr624Ser)
c.1490C>G (p.Thr497Ser)
c.275C>G (p.Thr92Ser)
n.378C>G
n.778-7401G>C
 gnomAD v4
11g.2847843C>TCA379140336KCNQ1,KCNQ1-AS1c.1514C>T (p.Thr505Ile)
c.1871C>T (p.Thr624Ile)
c.1490C>T (p.Thr497Ile)
c.275C>T (p.Thr92Ile)
n.378C>T
n.778-7401G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2847847dupCA2573053486KCNQ1,KCNQ1-AS1c.1518dup (p.Gly507ArgfsTer26)
c.1875dup (p.Gly626ArgfsTer26)
c.1494dup (p.Gly499ArgfsTer26)
c.279dup (p.Gly94ArgfsTer26)
n.382dup
n.778-7401dup
 ClinVar dbSNP gnomAD v4
11g.2847847delCA472466439KCNQ1,KCNQ1-AS1c.1518del (p.Gly507AlafsTer?)
c.1875del (p.Gly626AlafsTer?)
c.1494del (p.Gly499AlafsTer?)
c.279del (p.Gly94AlafsTer?)
n.382del
n.778-7401del
 gnomAD v4 COSMIC COSMIC
11g.2847848_2847865delCA006530KCNQ1,KCNQ1-AS1c.1519_1536del (p.Gly507_Pro512del)
c.1876_1893del (p.Gly626_Pro631del)
c.1495_1512del (p.Gly499_Pro504del)
c.280_297del (p.Gly94_Pro99del)
n.383_400del
n.778-7418_778-7401del
 ClinVar dbSNP gnomAD v4
11g.2847844C>ACA472466446KCNQ1,KCNQ1-AS1c.1515C>A (p.Thr505=)
c.1872C>A (p.Thr624=)
c.1491C>A (p.Thr497=)
c.276C>A (p.Thr92=)
n.379C>A
n.778-7402G>T
 gnomAD v4
11g.2847844C>GCA472466449KCNQ1,KCNQ1-AS1c.1515C>G (p.Thr505=)
c.1872C>G (p.Thr624=)
c.1491C>G (p.Thr497=)
c.276C>G (p.Thr92=)
n.379C>G
n.778-7402G>C
11g.2847844C>TCA472466450KCNQ1,KCNQ1-AS1c.1515C>T (p.Thr505=)
c.1872C>T (p.Thr624=)
c.1491C>T (p.Thr497=)
c.276C>T (p.Thr92=)
n.379C>T
n.778-7402G>A
 ClinVar gnomAD v4
11g.2847845C>ACA379140339KCNQ1,KCNQ1-AS1c.1516C>A (p.Pro506Thr)
c.1873C>A (p.Pro625Thr)
c.1492C>A (p.Pro498Thr)
c.277C>A (p.Pro93Thr)
n.380C>A
n.778-7403G>T
 gnomAD v4
11g.2847845C>GCA379140338KCNQ1,KCNQ1-AS1c.1516C>G (p.Pro506Ala)
c.1873C>G (p.Pro625Ala)
c.1492C>G (p.Pro498Ala)
c.277C>G (p.Pro93Ala)
n.380C>G
n.778-7403G>C
11g.2847845C>TCA379140337KCNQ1,KCNQ1-AS1c.1516C>T (p.Pro506Ser)
c.1873C>T (p.Pro625Ser)
c.1492C>T (p.Pro498Ser)
c.277C>T (p.Pro93Ser)
n.380C>T
n.778-7403G>A
 gnomAD v4
11g.2847846C>ACA379140340KCNQ1,KCNQ1-AS1c.1517C>A (p.Pro506His)
c.1874C>A (p.Pro625His)
c.1493C>A (p.Pro498His)
c.278C>A (p.Pro93His)
n.381C>A
n.778-7404G>T
 gnomAD v4
11g.2847846C=CA1948349628KCNQ1,KCNQ1-AS1c.1517C= (p.Pro506=)
c.1874C= (p.Pro625=)
c.1493C= (p.Pro498=)
c.278C= (p.Pro93=)
n.381C=
n.778-7404G=
11g.2847846C>GCA033459KCNQ1,KCNQ1-AS1c.1517C>G (p.Pro506Arg)
c.1874C>G (p.Pro625Arg)
c.1493C>G (p.Pro498Arg)
c.278C>G (p.Pro93Arg)
n.381C>G
n.778-7404G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2847846C>TCA379140341KCNQ1,KCNQ1-AS1c.1517C>T (p.Pro506Leu)
c.1874C>T (p.Pro625Leu)
c.1493C>T (p.Pro498Leu)
c.278C>T (p.Pro93Leu)
n.381C>T
n.778-7404G>A
 gnomAD v4 COSMIC COSMIC
11g.2847847C>ACA472466471KCNQ1,KCNQ1-AS1c.1518C>A (p.Pro506=)
c.1875C>A (p.Pro625=)
c.1494C>A (p.Pro498=)
c.279C>A (p.Pro93=)
n.382C>A
n.778-7405G>T
 gnomAD v4
11g.2847847C=CA1948349629KCNQ1,KCNQ1-AS1c.1518C= (p.Pro506=)
c.1875C= (p.Pro625=)
c.1494C= (p.Pro498=)
c.279C= (p.Pro93=)
n.382C=
n.778-7405G=
11g.2847847C>GCA033469KCNQ1,KCNQ1-AS1c.1518C>G (p.Pro506=)
c.1875C>G (p.Pro625=)
c.1494C>G (p.Pro498=)
c.279C>G (p.Pro93=)
n.382C>G
n.778-7405G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847847C>TCA033482KCNQ1,KCNQ1-AS1c.1518C>T (p.Pro506=)
c.1875C>T (p.Pro625=)
c.1494C>T (p.Pro498=)
c.279C>T (p.Pro93=)
n.382C>T
n.778-7405G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847847_2847848delinsCGCA1948349630KCNQ1,KCNQ1-AS1c.1518_1519delinsCG (p.Pro506=)
c.1875_1876delinsCG (p.Pro625=)
c.1494_1495delinsCG (p.Pro498=)
c.279_280delinsCG (p.Pro93=)
n.382_383delinsCG
n.778-7406_778-7405delinsCG
11g.2847848G>ACA006538KCNQ1,KCNQ1-AS1c.1519G>A (p.Gly507Ser)
c.1876G>A (p.Gly626Ser)
c.1495G>A (p.Gly499Ser)
c.280G>A (p.Gly94Ser)
n.383G>A
n.778-7406C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2847848G>CCA379140342KCNQ1,KCNQ1-AS1c.1519G>C (p.Gly507Arg)
c.1876G>C (p.Gly626Arg)
c.1495G>C (p.Gly499Arg)
c.280G>C (p.Gly94Arg)
n.383G>C
n.778-7406C>G
 ClinVar
11g.2847848G=CA1948349632KCNQ1,KCNQ1-AS1c.1519G= (p.Gly507=)
c.1876G= (p.Gly626=)
c.1495G= (p.Gly499=)
c.280G= (p.Gly94=)
n.383G=
n.778-7406C=
11g.2847848G>TCA379140343KCNQ1,KCNQ1-AS1c.1519G>T (p.Gly507Cys)
c.1876G>T (p.Gly626Cys)
c.1495G>T (p.Gly499Cys)
c.280G>T (p.Gly94Cys)
n.383G>T
n.778-7406C>A
 gnomAD v4 COSMIC COSMIC
11g.2847849delCA1948349631KCNQ1,KCNQ1-AS1c.1520del (p.Gly507AlafsTer?)
c.1877del (p.Gly626AlafsTer?)
c.1496del (p.Gly499AlafsTer?)
c.281del (p.Gly94AlafsTer?)
n.384del
n.778-7406del
 dbSNP
11g.2847849G>ACA379140344KCNQ1,KCNQ1-AS1c.1520G>A (p.Gly507Asp)
c.1877G>A (p.Gly626Asp)
c.1496G>A (p.Gly499Asp)
c.281G>A (p.Gly94Asp)
n.384G>A
n.778-7407C>T
 gnomAD v4
11g.2847849G>CCA379140345KCNQ1,KCNQ1-AS1c.1520G>C (p.Gly507Ala)
c.1877G>C (p.Gly626Ala)
c.1496G>C (p.Gly499Ala)
c.281G>C (p.Gly94Ala)
n.384G>C
n.778-7407C>G
11g.2847849G=CA1948349633KCNQ1,KCNQ1-AS1c.1520G= (p.Gly507=)
c.1877G= (p.Gly626=)
c.1496G= (p.Gly499=)
c.281G= (p.Gly94=)
n.384G=
n.778-7407C=
11g.2847849G>TCA379140346KCNQ1,KCNQ1-AS1c.1520G>T (p.Gly507Val)
c.1877G>T (p.Gly626Val)
c.1496G>T (p.Gly499Val)
c.281G>T (p.Gly94Val)
n.384G>T
n.778-7407C>A
 ClinVar dbSNP gnomAD v4
11g.2847850C>ACA472466488KCNQ1,KCNQ1-AS1c.1521C>A (p.Gly507=)
c.1878C>A (p.Gly626=)
c.1497C>A (p.Gly499=)
c.282C>A (p.Gly94=)
n.385C>A
n.778-7408G>T
 gnomAD v4
11g.2847850C>GCA472466489KCNQ1,KCNQ1-AS1c.1521C>G (p.Gly507=)
c.1878C>G (p.Gly626=)
c.1497C>G (p.Gly499=)
c.282C>G (p.Gly94=)
n.385C>G
n.778-7408G>C
 gnomAD v4
11g.2847850C>TCA472466487KCNQ1,KCNQ1-AS1c.1521C>T (p.Gly507=)
c.1878C>T (p.Gly626=)
c.1497C>T (p.Gly499=)
c.282C>T (p.Gly94=)
n.385C>T
n.778-7408G>A
11g.2847851A=CA1948349634KCNQ1,KCNQ1-AS1c.1522A= (p.Ser508=)
c.1879A= (p.Ser627=)
c.1498A= (p.Ser500=)
c.283A= (p.Ser95=)
n.386A=
n.778-7409T=
11g.2847851A>CCA379140349KCNQ1,KCNQ1-AS1c.1522A>C (p.Ser508Arg)
c.1879A>C (p.Ser627Arg)
c.1498A>C (p.Ser500Arg)
c.283A>C (p.Ser95Arg)
n.386A>C
n.778-7409T>G
11g.2847851A>GCA379140348KCNQ1,KCNQ1-AS1c.1522A>G (p.Ser508Gly)
c.1879A>G (p.Ser627Gly)
c.1498A>G (p.Ser500Gly)
c.283A>G (p.Ser95Gly)
n.386A>G
n.778-7409T>C
 dbSNP
11g.2847851A>TCA379140347KCNQ1,KCNQ1-AS1c.1522A>T (p.Ser508Cys)
c.1879A>T (p.Ser627Cys)
c.1498A>T (p.Ser500Cys)
c.283A>T (p.Ser95Cys)
n.386A>T
n.778-7409T>A
11g.2847852G>ACA379140350KCNQ1,KCNQ1-AS1c.1523G>A (p.Ser508Asn)
c.1880G>A (p.Ser627Asn)
c.1499G>A (p.Ser500Asn)
c.284G>A (p.Ser95Asn)
n.387G>A
n.778-7410C>T
11g.2847852G>CCA379140351KCNQ1,KCNQ1-AS1c.1523G>C (p.Ser508Thr)
c.1880G>C (p.Ser627Thr)
c.1499G>C (p.Ser500Thr)
c.284G>C (p.Ser95Thr)
n.387G>C
n.778-7410C>G
11g.2847852G>TCA379140352KCNQ1,KCNQ1-AS1c.1523G>T (p.Ser508Ile)
c.1880G>T (p.Ser627Ile)
c.1499G>T (p.Ser500Ile)
c.284G>T (p.Ser95Ile)
n.387G>T
n.778-7410C>A
 gnomAD v4
11g.2847853C>ACA379140353KCNQ1,KCNQ1-AS1c.1524C>A (p.Ser508Arg)
c.1881C>A (p.Ser627Arg)
c.1500C>A (p.Ser500Arg)
c.285C>A (p.Ser95Arg)
n.388C>A
n.778-7411G>T
 gnomAD v4
11g.2847853C=CA1948349635KCNQ1,KCNQ1-AS1c.1524C= (p.Ser508=)
c.1881C= (p.Ser627=)
c.1500C= (p.Ser500=)
c.285C= (p.Ser95=)
n.388C=
n.778-7411G=
11g.2847853C>GCA379140354KCNQ1,KCNQ1-AS1c.1524C>G (p.Ser508Arg)
c.1881C>G (p.Ser627Arg)
c.1500C>G (p.Ser500Arg)
c.285C>G (p.Ser95Arg)
n.388C>G
n.778-7411G>C
11g.2847853C>TCA033494KCNQ1,KCNQ1-AS1c.1524C>T (p.Ser508=)
c.1881C>T (p.Ser627=)
c.1500C>T (p.Ser500=)
c.285C>T (p.Ser95=)
n.388C>T
n.778-7411G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847854G>ACA033512KCNQ1,KCNQ1-AS1c.1525G>A (p.Gly509Ser)
c.1882G>A (p.Gly628Ser)
c.1501G>A (p.Gly501Ser)
c.286G>A (p.Gly96Ser)
n.389G>A
n.778-7412C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2847854G>CCA379140356KCNQ1,KCNQ1-AS1c.1525G>C (p.Gly509Arg)
c.1882G>C (p.Gly628Arg)
c.1501G>C (p.Gly501Arg)
c.286G>C (p.Gly96Arg)
n.389G>C
n.778-7412C>G
11g.2847854G=CA1948349636KCNQ1,KCNQ1-AS1c.1525G= (p.Gly509=)
c.1882G= (p.Gly628=)
c.1501G= (p.Gly501=)
c.286G= (p.Gly96=)
n.389G=
n.778-7412C=
11g.2847854G>TCA379140355KCNQ1,KCNQ1-AS1c.1525G>T (p.Gly509Cys)
c.1882G>T (p.Gly628Cys)
c.1501G>T (p.Gly501Cys)
c.286G>T (p.Gly96Cys)
n.389G>T
n.778-7412C>A

Number of alleles fetched