Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63414890C>ACA2577453573KCNQ2c.1471+13G>T (n.1471+13G>T)
c.1525+13G>T (n.1525+13G>T)
c.922+13G>T (n.922+13G>T)
c.1435+13G>T (n.1435+13G>T)
c.1093+13G>T (n.1093+13G>T)
c.1441+13G>T (n.1441+13G>T)
c.1405+13G>T (n.1405+13G>T)
c.585+13G>T
c.133+13G>T (n.133+13G>T)
c.1495+13G>T (n.1495+13G>T)
c.1399+13G>T (n.1399+13G>T)
c.1006+13G>T (n.1006+13G>T)
c.1402+13G>T (n.1402+13G>T)
c.433+13G>T (n.433+13G>T)
20g.63414890C=CA2374778746KCNQ2c.1471+13G= (n.1471+13G=)
c.1525+13G= (n.1525+13G=)
c.922+13G= (n.922+13G=)
c.1435+13G= (n.1435+13G=)
c.1093+13G= (n.1093+13G=)
c.1441+13G= (n.1441+13G=)
c.1405+13G= (n.1405+13G=)
c.585+13G=
c.133+13G= (n.133+13G=)
c.1495+13G= (n.1495+13G=)
c.1399+13G= (n.1399+13G=)
c.1006+13G= (n.1006+13G=)
c.1402+13G= (n.1402+13G=)
c.433+13G= (n.433+13G=)
20g.63414890C>TCA9958439KCNQ2c.1471+13G>A (n.1471+13G>A)
c.1525+13G>A (n.1525+13G>A)
c.922+13G>A (n.922+13G>A)
c.1435+13G>A (n.1435+13G>A)
c.1093+13G>A (n.1093+13G>A)
c.1441+13G>A (n.1441+13G>A)
c.1405+13G>A (n.1405+13G>A)
c.585+13G>A
c.133+13G>A (n.133+13G>A)
c.1495+13G>A (n.1495+13G>A)
c.1399+13G>A (n.1399+13G>A)
c.1006+13G>A (n.1006+13G>A)
c.1402+13G>A (n.1402+13G>A)
c.433+13G>A (n.433+13G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
20g.63414891G>ACA9958440KCNQ2c.1471+12C>T (n.1471+12C>T)
c.1525+12C>T (n.1525+12C>T)
c.922+12C>T (n.922+12C>T)
c.1435+12C>T (n.1435+12C>T)
c.1093+12C>T (n.1093+12C>T)
c.1441+12C>T (n.1441+12C>T)
c.1405+12C>T (n.1405+12C>T)
c.585+12C>T
c.133+12C>T (n.133+12C>T)
c.1495+12C>T (n.1495+12C>T)
c.1399+12C>T (n.1399+12C>T)
c.1006+12C>T (n.1006+12C>T)
c.1402+12C>T (n.1402+12C>T)
c.433+12C>T (n.433+12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414891G=CA2374778747KCNQ2c.1471+12C= (n.1471+12C=)
c.1525+12C= (n.1525+12C=)
c.922+12C= (n.922+12C=)
c.1435+12C= (n.1435+12C=)
c.1093+12C= (n.1093+12C=)
c.1441+12C= (n.1441+12C=)
c.1405+12C= (n.1405+12C=)
c.585+12C=
c.133+12C= (n.133+12C=)
c.1495+12C= (n.1495+12C=)
c.1399+12C= (n.1399+12C=)
c.1006+12C= (n.1006+12C=)
c.1402+12C= (n.1402+12C=)
c.433+12C= (n.433+12C=)
20g.63414892G>ACA2653800446KCNQ2c.1471+11C>T (n.1471+11C>T)
c.1525+11C>T (n.1525+11C>T)
c.922+11C>T (n.922+11C>T)
c.1435+11C>T (n.1435+11C>T)
c.1093+11C>T (n.1093+11C>T)
c.1441+11C>T (n.1441+11C>T)
c.1405+11C>T (n.1405+11C>T)
c.585+11C>T
c.133+11C>T (n.133+11C>T)
c.1495+11C>T (n.1495+11C>T)
c.1399+11C>T (n.1399+11C>T)
c.1006+11C>T (n.1006+11C>T)
c.1402+11C>T (n.1402+11C>T)
c.433+11C>T (n.433+11C>T)
 dbSNP gnomAD v4
20g.63414893C>ACA636614196KCNQ2c.1471+10G>T (n.1471+10G>T)
c.1525+10G>T (n.1525+10G>T)
c.922+10G>T (n.922+10G>T)
c.1435+10G>T (n.1435+10G>T)
c.1093+10G>T (n.1093+10G>T)
c.1441+10G>T (n.1441+10G>T)
c.1405+10G>T (n.1405+10G>T)
c.585+10G>T
c.133+10G>T (n.133+10G>T)
c.1495+10G>T (n.1495+10G>T)
c.1399+10G>T (n.1399+10G>T)
c.1006+10G>T (n.1006+10G>T)
c.1402+10G>T (n.1402+10G>T)
c.433+10G>T (n.433+10G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.63414893C=CA2374778748KCNQ2c.1471+10G= (n.1471+10G=)
c.1525+10G= (n.1525+10G=)
c.922+10G= (n.922+10G=)
c.1435+10G= (n.1435+10G=)
c.1093+10G= (n.1093+10G=)
c.1441+10G= (n.1441+10G=)
c.1405+10G= (n.1405+10G=)
c.585+10G=
c.133+10G= (n.133+10G=)
c.1495+10G= (n.1495+10G=)
c.1399+10G= (n.1399+10G=)
c.1006+10G= (n.1006+10G=)
c.1402+10G= (n.1402+10G=)
c.433+10G= (n.433+10G=)
20g.63414895A=CA2374778749KCNQ2c.1471+8T= (n.1471+8T=)
c.1525+8T= (n.1525+8T=)
c.922+8T= (n.922+8T=)
c.1435+8T= (n.1435+8T=)
c.1093+8T= (n.1093+8T=)
c.1441+8T= (n.1441+8T=)
c.1405+8T= (n.1405+8T=)
c.585+8T=
c.133+8T= (n.133+8T=)
c.1495+8T= (n.1495+8T=)
c.1399+8T= (n.1399+8T=)
c.1006+8T= (n.1006+8T=)
c.1402+8T= (n.1402+8T=)
c.433+8T= (n.433+8T=)
20g.63414895A>CCA2653800452KCNQ2c.1471+8T>G (n.1471+8T>G)
c.1525+8T>G (n.1525+8T>G)
c.922+8T>G (n.922+8T>G)
c.1435+8T>G (n.1435+8T>G)
c.1093+8T>G (n.1093+8T>G)
c.1441+8T>G (n.1441+8T>G)
c.1405+8T>G (n.1405+8T>G)
c.585+8T>G
c.133+8T>G (n.133+8T>G)
c.1495+8T>G (n.1495+8T>G)
c.1399+8T>G (n.1399+8T>G)
c.1006+8T>G (n.1006+8T>G)
c.1402+8T>G (n.1402+8T>G)
c.433+8T>G (n.433+8T>G)
 gnomAD v4
20g.63414895A>GCA2374778751KCNQ2c.1471+8T>C (n.1471+8T>C)
c.1525+8T>C (n.1525+8T>C)
c.922+8T>C (n.922+8T>C)
c.1435+8T>C (n.1435+8T>C)
c.1093+8T>C (n.1093+8T>C)
c.1441+8T>C (n.1441+8T>C)
c.1405+8T>C (n.1405+8T>C)
c.585+8T>C
c.133+8T>C (n.133+8T>C)
c.1495+8T>C (n.1495+8T>C)
c.1399+8T>C (n.1399+8T>C)
c.1006+8T>C (n.1006+8T>C)
c.1402+8T>C (n.1402+8T>C)
c.433+8T>C (n.433+8T>C)
 dbSNP
20g.63414895_63414896delinsACCA2374778750KCNQ2c.1471+7_1471+8delinsGT (n.1471+7_1471+8delinsGT)
c.1525+7_1525+8delinsGT (n.1525+7_1525+8delinsGT)
c.922+7_922+8delinsGT (n.922+7_922+8delinsGT)
c.1435+7_1435+8delinsGT (n.1435+7_1435+8delinsGT)
c.1093+7_1093+8delinsGT (n.1093+7_1093+8delinsGT)
c.1441+7_1441+8delinsGT (n.1441+7_1441+8delinsGT)
c.1405+7_1405+8delinsGT (n.1405+7_1405+8delinsGT)
c.585+7_585+8delinsGT
c.133+7_133+8delinsGT (n.133+7_133+8delinsGT)
c.1495+7_1495+8delinsGT (n.1495+7_1495+8delinsGT)
c.1399+7_1399+8delinsGT (n.1399+7_1399+8delinsGT)
c.1006+7_1006+8delinsGT (n.1006+7_1006+8delinsGT)
c.1402+7_1402+8delinsGT (n.1402+7_1402+8delinsGT)
c.433+7_433+8delinsGT (n.433+7_433+8delinsGT)
20g.63414896delCA2374778752KCNQ2c.1471+7del (n.1471+7del)
c.1525+7del (n.1525+7del)
c.922+7del (n.922+7del)
c.1435+7del (n.1435+7del)
c.1093+7del (n.1093+7del)
c.1441+7del (n.1441+7del)
c.1405+7del (n.1405+7del)
c.585+7del
c.133+7del (n.133+7del)
c.1495+7del (n.1495+7del)
c.1399+7del (n.1399+7del)
c.1006+7del (n.1006+7del)
c.1402+7del (n.1402+7del)
c.433+7del (n.433+7del)
 ClinVar dbSNP
20g.63414896C>TCA2737060222KCNQ2c.1471+7G>A (n.1471+7G>A)
c.1525+7G>A (n.1525+7G>A)
c.922+7G>A (n.922+7G>A)
c.1435+7G>A (n.1435+7G>A)
c.1093+7G>A (n.1093+7G>A)
c.1441+7G>A (n.1441+7G>A)
c.1405+7G>A (n.1405+7G>A)
c.585+7G>A
c.133+7G>A (n.133+7G>A)
c.1495+7G>A (n.1495+7G>A)
c.1399+7G>A (n.1399+7G>A)
c.1006+7G>A (n.1006+7G>A)
c.1402+7G>A (n.1402+7G>A)
c.433+7G>A (n.433+7G>A)
 dbSNP
20g.63414897A>TCA2737060381KCNQ2c.1471+6T>A (n.1471+6T>A)
c.1525+6T>A (n.1525+6T>A)
c.922+6T>A (n.922+6T>A)
c.1435+6T>A (n.1435+6T>A)
c.1093+6T>A (n.1093+6T>A)
c.1441+6T>A (n.1441+6T>A)
c.1405+6T>A (n.1405+6T>A)
c.585+6T>A
c.133+6T>A (n.133+6T>A)
c.1495+6T>A (n.1495+6T>A)
c.1399+6T>A (n.1399+6T>A)
c.1006+6T>A (n.1006+6T>A)
c.1402+6T>A (n.1402+6T>A)
c.433+6T>A (n.433+6T>A)
 dbSNP
20g.63414898C>GCA2737060446KCNQ2c.1471+5G>C (n.1471+5G>C)
c.1525+5G>C (n.1525+5G>C)
c.922+5G>C (n.922+5G>C)
c.1435+5G>C (n.1435+5G>C)
c.1093+5G>C (n.1093+5G>C)
c.1441+5G>C (n.1441+5G>C)
c.1405+5G>C (n.1405+5G>C)
c.585+5G>C
c.133+5G>C (n.133+5G>C)
c.1495+5G>C (n.1495+5G>C)
c.1399+5G>C (n.1399+5G>C)
c.1006+5G>C (n.1006+5G>C)
c.1402+5G>C (n.1402+5G>C)
c.433+5G>C (n.433+5G>C)
 dbSNP
20g.63414898C>TCA2695230081KCNQ2c.1471+5G>A (n.1471+5G>A)
c.1525+5G>A (n.1525+5G>A)
c.922+5G>A (n.922+5G>A)
c.1435+5G>A (n.1435+5G>A)
c.1093+5G>A (n.1093+5G>A)
c.1441+5G>A (n.1441+5G>A)
c.1405+5G>A (n.1405+5G>A)
c.585+5G>A
c.133+5G>A (n.133+5G>A)
c.1495+5G>A (n.1495+5G>A)
c.1399+5G>A (n.1399+5G>A)
c.1006+5G>A (n.1006+5G>A)
c.1402+5G>A (n.1402+5G>A)
c.433+5G>A (n.433+5G>A)
20g.63414899C=CA2374778753KCNQ2c.1471+4G= (n.1471+4G=)
c.1525+4G= (n.1525+4G=)
c.922+4G= (n.922+4G=)
c.1435+4G= (n.1435+4G=)
c.1093+4G= (n.1093+4G=)
c.1441+4G= (n.1441+4G=)
c.1405+4G= (n.1405+4G=)
c.585+4G=
c.133+4G= (n.133+4G=)
c.1495+4G= (n.1495+4G=)
c.1399+4G= (n.1399+4G=)
c.1006+4G= (n.1006+4G=)
c.1402+4G= (n.1402+4G=)
c.433+4G= (n.433+4G=)
20g.63414899C>TCA317430854KCNQ2c.1471+4G>A (n.1471+4G>A)
c.1525+4G>A (n.1525+4G>A)
c.922+4G>A (n.922+4G>A)
c.1435+4G>A (n.1435+4G>A)
c.1093+4G>A (n.1093+4G>A)
c.1441+4G>A (n.1441+4G>A)
c.1405+4G>A (n.1405+4G>A)
c.585+4G>A
c.133+4G>A (n.133+4G>A)
c.1495+4G>A (n.1495+4G>A)
c.1399+4G>A (n.1399+4G>A)
c.1006+4G>A (n.1006+4G>A)
c.1402+4G>A (n.1402+4G>A)
c.433+4G>A (n.433+4G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63414900C=CA2374778754KCNQ2c.1471+3G= (n.1471+3G=)
c.1525+3G= (n.1525+3G=)
c.922+3G= (n.922+3G=)
c.1435+3G= (n.1435+3G=)
c.1093+3G= (n.1093+3G=)
c.1441+3G= (n.1441+3G=)
c.1405+3G= (n.1405+3G=)
c.585+3G=
c.133+3G= (n.133+3G=)
c.1495+3G= (n.1495+3G=)
c.1399+3G= (n.1399+3G=)
c.1006+3G= (n.1006+3G=)
c.1402+3G= (n.1402+3G=)
c.433+3G= (n.433+3G=)
20g.63414900C>TCA9958441KCNQ2c.1471+3G>A (n.1471+3G>A)
c.1525+3G>A (n.1525+3G>A)
c.922+3G>A (n.922+3G>A)
c.1435+3G>A (n.1435+3G>A)
c.1093+3G>A (n.1093+3G>A)
c.1441+3G>A (n.1441+3G>A)
c.1405+3G>A (n.1405+3G>A)
c.585+3G>A
c.133+3G>A (n.133+3G>A)
c.1495+3G>A (n.1495+3G>A)
c.1399+3G>A (n.1399+3G>A)
c.1006+3G>A (n.1006+3G>A)
c.1402+3G>A (n.1402+3G>A)
c.433+3G>A (n.433+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414901A=CA2374778755KCNQ2c.1471+2T= (n.1471+2T=)
c.1525+2T= (n.1525+2T=)
c.922+2T= (n.922+2T=)
c.1435+2T= (n.1435+2T=)
c.1093+2T= (n.1093+2T=)
c.1441+2T= (n.1441+2T=)
c.1405+2T= (n.1405+2T=)
c.585+2T=
c.133+2T= (n.133+2T=)
c.1495+2T= (n.1495+2T=)
c.1399+2T= (n.1399+2T=)
c.1006+2T= (n.1006+2T=)
c.1402+2T= (n.1402+2T=)
c.433+2T= (n.433+2T=)
20g.63414901A>CCA409646016KCNQ2c.1471+2T>G (n.1471+2T>G)
c.1525+2T>G (n.1525+2T>G)
c.922+2T>G (n.922+2T>G)
c.1435+2T>G (n.1435+2T>G)
c.1093+2T>G (n.1093+2T>G)
c.1441+2T>G (n.1441+2T>G)
c.1405+2T>G (n.1405+2T>G)
c.585+2T>G
c.133+2T>G (n.133+2T>G)
c.1495+2T>G (n.1495+2T>G)
c.1399+2T>G (n.1399+2T>G)
c.1006+2T>G (n.1006+2T>G)
c.1402+2T>G (n.1402+2T>G)
c.433+2T>G (n.433+2T>G)
 dbSNP
20g.63414901A>GCA409646014KCNQ2c.1471+2T>C (n.1471+2T>C)
c.1525+2T>C (n.1525+2T>C)
c.922+2T>C (n.922+2T>C)
c.1435+2T>C (n.1435+2T>C)
c.1093+2T>C (n.1093+2T>C)
c.1441+2T>C (n.1441+2T>C)
c.1405+2T>C (n.1405+2T>C)
c.585+2T>C
c.133+2T>C (n.133+2T>C)
c.1495+2T>C (n.1495+2T>C)
c.1399+2T>C (n.1399+2T>C)
c.1006+2T>C (n.1006+2T>C)
c.1402+2T>C (n.1402+2T>C)
c.433+2T>C (n.433+2T>C)
 ClinVar
20g.63414901A>TCA409646011KCNQ2c.1471+2T>A (n.1471+2T>A)
c.1525+2T>A (n.1525+2T>A)
c.922+2T>A (n.922+2T>A)
c.1435+2T>A (n.1435+2T>A)
c.1093+2T>A (n.1093+2T>A)
c.1441+2T>A (n.1441+2T>A)
c.1405+2T>A (n.1405+2T>A)
c.585+2T>A
c.133+2T>A (n.133+2T>A)
c.1495+2T>A (n.1495+2T>A)
c.1399+2T>A (n.1399+2T>A)
c.1006+2T>A (n.1006+2T>A)
c.1402+2T>A (n.1402+2T>A)
c.433+2T>A (n.433+2T>A)
20g.63414902C>ACA409646020KCNQ2c.1471+1G>T (n.1471+1G>T)
c.1525+1G>T (n.1525+1G>T)
c.922+1G>T (n.922+1G>T)
c.1435+1G>T (n.1435+1G>T)
c.1093+1G>T (n.1093+1G>T)
c.1441+1G>T (n.1441+1G>T)
c.1405+1G>T (n.1405+1G>T)
c.585+1G>T
c.133+1G>T (n.133+1G>T)
c.1495+1G>T (n.1495+1G>T)
c.1399+1G>T (n.1399+1G>T)
c.1006+1G>T (n.1006+1G>T)
c.1402+1G>T (n.1402+1G>T)
c.433+1G>T (n.433+1G>T)
20g.63414902C=CA2374778756KCNQ2c.1471+1G= (n.1471+1G=)
c.1525+1G= (n.1525+1G=)
c.922+1G= (n.922+1G=)
c.1435+1G= (n.1435+1G=)
c.1093+1G= (n.1093+1G=)
c.1441+1G= (n.1441+1G=)
c.1405+1G= (n.1405+1G=)
c.585+1G=
c.133+1G= (n.133+1G=)
c.1495+1G= (n.1495+1G=)
c.1399+1G= (n.1399+1G=)
c.1006+1G= (n.1006+1G=)
c.1402+1G= (n.1402+1G=)
c.433+1G= (n.433+1G=)
20g.63414902C>GCA409646027KCNQ2c.1471+1G>C (n.1471+1G>C)
c.1525+1G>C (n.1525+1G>C)
c.922+1G>C (n.922+1G>C)
c.1435+1G>C (n.1435+1G>C)
c.1093+1G>C (n.1093+1G>C)
c.1441+1G>C (n.1441+1G>C)
c.1405+1G>C (n.1405+1G>C)
c.585+1G>C
c.133+1G>C (n.133+1G>C)
c.1495+1G>C (n.1495+1G>C)
c.1399+1G>C (n.1399+1G>C)
c.1006+1G>C (n.1006+1G>C)
c.1402+1G>C (n.1402+1G>C)
c.433+1G>C (n.433+1G>C)
20g.63414902C>TCA342470KCNQ2c.1471+1G>A (n.1471+1G>A)
c.1525+1G>A (n.1525+1G>A)
c.922+1G>A (n.922+1G>A)
c.1435+1G>A (n.1435+1G>A)
c.1093+1G>A (n.1093+1G>A)
c.1441+1G>A (n.1441+1G>A)
c.1405+1G>A (n.1405+1G>A)
c.585+1G>A
c.133+1G>A (n.133+1G>A)
c.1495+1G>A (n.1495+1G>A)
c.1399+1G>A (n.1399+1G>A)
c.1006+1G>A (n.1006+1G>A)
c.1402+1G>A (n.1402+1G>A)
c.433+1G>A (n.433+1G>A)
 ClinVar dbSNP
20g.63414903C>ACA409646032KCNQ2c.1471G>T (p.Glu491Ter)
c.1525G>T (p.Glu509Ter)
c.922G>T (p.Glu308Ter)
c.1435G>T (p.Ala479Ser)
c.1093G>T (p.Glu365Ter)
c.1441G>T (p.Glu481Ter)
c.1405G>T (p.Glu469Ter)
c.585G>T
c.133G>T (p.Glu45Ter)
c.1525G>T (p.Ala509Ser)
c.1495G>T (p.Glu499Ter)
c.1399G>T (p.Glu467Ter)
c.1006G>T (p.Glu336Ter)
c.1471G>T (p.Ala491Ser)
c.1402G>T (p.Glu468Ter)
c.433G>T (p.Glu145Ter)
 ClinVar
20g.63414903C>GCA409646035KCNQ2c.1471G>C (p.Glu491Gln)
c.1525G>C (p.Glu509Gln)
c.922G>C (p.Glu308Gln)
c.1435G>C (p.Ala479Pro)
c.1093G>C (p.Glu365Gln)
c.1441G>C (p.Glu481Gln)
c.1405G>C (p.Glu469Gln)
c.585G>C
c.133G>C (p.Glu45Gln)
c.1525G>C (p.Ala509Pro)
c.1495G>C (p.Glu499Gln)
c.1399G>C (p.Glu467Gln)
c.1006G>C (p.Glu336Gln)
c.1471G>C (p.Ala491Pro)
c.1402G>C (p.Glu468Gln)
c.433G>C (p.Glu145Gln)
20g.63414903C>TCA409646036KCNQ2c.1471G>A (p.Glu491Lys)
c.1525G>A (p.Glu509Lys)
c.922G>A (p.Glu308Lys)
c.1435G>A (p.Ala479Thr)
c.1093G>A (p.Glu365Lys)
c.1441G>A (p.Glu481Lys)
c.1405G>A (p.Glu469Lys)
c.585G>A
c.133G>A (p.Glu45Lys)
c.1525G>A (p.Ala509Thr)
c.1495G>A (p.Glu499Lys)
c.1399G>A (p.Glu467Lys)
c.1006G>A (p.Glu336Lys)
c.1471G>A (p.Ala491Thr)
c.1402G>A (p.Glu468Lys)
c.433G>A (p.Glu145Lys)
20g.63414904T>ACA409646042KCNQ2c.1470A>T (p.Glu490Asp)
c.1524A>T (p.Glu508Asp)
c.921A>T (p.Glu307Asp)
c.1434A>T (p.Glu478Asp)
c.1092A>T (p.Glu364Asp)
c.1440A>T (p.Glu480Asp)
c.1404A>T (p.Glu468Asp)
c.584A>T
c.132A>T (p.Glu44Asp)
c.1494A>T (p.Glu498Asp)
c.1398A>T (p.Glu466Asp)
c.1005A>T (p.Glu335Asp)
c.1401A>T (p.Glu467Asp)
c.432A>T (p.Glu144Asp)
20g.63414904T>CCA511339598KCNQ2c.1470A>G (p.Glu490=)
c.1524A>G (p.Glu508=)
c.921A>G (p.Glu307=)
c.1434A>G (p.Glu478=)
c.1092A>G (p.Glu364=)
c.1440A>G (p.Glu480=)
c.1404A>G (p.Glu468=)
c.584A>G
c.132A>G (p.Glu44=)
c.1494A>G (p.Glu498=)
c.1398A>G (p.Glu466=)
c.1005A>G (p.Glu335=)
c.1401A>G (p.Glu467=)
c.432A>G (p.Glu144=)
20g.63414904T>GCA409646041KCNQ2c.1470A>C (p.Glu490Asp)
c.1524A>C (p.Glu508Asp)
c.921A>C (p.Glu307Asp)
c.1434A>C (p.Glu478Asp)
c.1092A>C (p.Glu364Asp)
c.1440A>C (p.Glu480Asp)
c.1404A>C (p.Glu468Asp)
c.584A>C
c.132A>C (p.Glu44Asp)
c.1494A>C (p.Glu498Asp)
c.1398A>C (p.Glu466Asp)
c.1005A>C (p.Glu335Asp)
c.1401A>C (p.Glu467Asp)
c.432A>C (p.Glu144Asp)
20g.63414905T>ACA409646044KCNQ2c.1469A>T (p.Glu490Val)
c.1523A>T (p.Glu508Val)
c.920A>T (p.Glu307Val)
c.1433A>T (p.Glu478Val)
c.1091A>T (p.Glu364Val)
c.1439A>T (p.Glu480Val)
c.1403A>T (p.Glu468Val)
c.583A>T
c.131A>T (p.Glu44Val)
c.1493A>T (p.Glu498Val)
c.1397A>T (p.Glu466Val)
c.1004A>T (p.Glu335Val)
c.1400A>T (p.Glu467Val)
c.431A>T (p.Glu144Val)
20g.63414905T>CCA409646047KCNQ2c.1469A>G (p.Glu490Gly)
c.1523A>G (p.Glu508Gly)
c.920A>G (p.Glu307Gly)
c.1433A>G (p.Glu478Gly)
c.1091A>G (p.Glu364Gly)
c.1439A>G (p.Glu480Gly)
c.1403A>G (p.Glu468Gly)
c.583A>G
c.131A>G (p.Glu44Gly)
c.1493A>G (p.Glu498Gly)
c.1397A>G (p.Glu466Gly)
c.1004A>G (p.Glu335Gly)
c.1400A>G (p.Glu467Gly)
c.431A>G (p.Glu144Gly)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
20g.63414905T>GCA409646048KCNQ2c.1469A>C (p.Glu490Ala)
c.1523A>C (p.Glu508Ala)
c.920A>C (p.Glu307Ala)
c.1433A>C (p.Glu478Ala)
c.1091A>C (p.Glu364Ala)
c.1439A>C (p.Glu480Ala)
c.1403A>C (p.Glu468Ala)
c.583A>C
c.131A>C (p.Glu44Ala)
c.1493A>C (p.Glu498Ala)
c.1397A>C (p.Glu466Ala)
c.1004A>C (p.Glu335Ala)
c.1400A>C (p.Glu467Ala)
c.431A>C (p.Glu144Ala)
20g.63414905T=CA2374778757KCNQ2c.1469A= (p.Glu490=)
c.1523A= (p.Glu508=)
c.920A= (p.Glu307=)
c.1433A= (p.Glu478=)
c.1091A= (p.Glu364=)
c.1439A= (p.Glu480=)
c.1403A= (p.Glu468=)
c.583A=
c.131A= (p.Glu44=)
c.1493A= (p.Glu498=)
c.1397A= (p.Glu466=)
c.1004A= (p.Glu335=)
c.1400A= (p.Glu467=)
c.431A= (p.Glu144=)
20g.63414906C>ACA409646052KCNQ2c.1468G>T (p.Glu490Ter)
c.1522G>T (p.Glu508Ter)
c.919G>T (p.Glu307Ter)
c.1432G>T (p.Glu478Ter)
c.1090G>T (p.Glu364Ter)
c.1438G>T (p.Glu480Ter)
c.1402G>T (p.Glu468Ter)
c.582G>T
c.130G>T (p.Glu44Ter)
c.1492G>T (p.Glu498Ter)
c.1396G>T (p.Glu466Ter)
c.1003G>T (p.Glu335Ter)
c.1399G>T (p.Glu467Ter)
c.430G>T (p.Glu144Ter)
20g.63414906C>GCA409646054KCNQ2c.1468G>C (p.Glu490Gln)
c.1522G>C (p.Glu508Gln)
c.919G>C (p.Glu307Gln)
c.1432G>C (p.Glu478Gln)
c.1090G>C (p.Glu364Gln)
c.1438G>C (p.Glu480Gln)
c.1402G>C (p.Glu468Gln)
c.582G>C
c.130G>C (p.Glu44Gln)
c.1492G>C (p.Glu498Gln)
c.1396G>C (p.Glu466Gln)
c.1003G>C (p.Glu335Gln)
c.1399G>C (p.Glu467Gln)
c.430G>C (p.Glu144Gln)
20g.63414906C>TCA409646055KCNQ2c.1468G>A (p.Glu490Lys)
c.1522G>A (p.Glu508Lys)
c.919G>A (p.Glu307Lys)
c.1432G>A (p.Glu478Lys)
c.1090G>A (p.Glu364Lys)
c.1438G>A (p.Glu480Lys)
c.1402G>A (p.Glu468Lys)
c.582G>A
c.130G>A (p.Glu44Lys)
c.1492G>A (p.Glu498Lys)
c.1396G>A (p.Glu466Lys)
c.1003G>A (p.Glu335Lys)
c.1399G>A (p.Glu467Lys)
c.430G>A (p.Glu144Lys)
20g.63414907T>ACA511339604KCNQ2c.1467A>T (p.Ser489=)
c.1521A>T (p.Ser507=)
c.918A>T (p.Ser306=)
c.1431A>T (p.Ser477=)
c.1089A>T (p.Ser363=)
c.1437A>T (p.Ser479=)
c.1401A>T (p.Ser467=)
c.581A>T
c.129A>T (p.Ser43=)
c.1491A>T (p.Ser497=)
c.1395A>T (p.Ser465=)
c.1002A>T (p.Ser334=)
c.1398A>T (p.Ser466=)
c.429A>T (p.Ser143=)
20g.63414907T>CCA511339605KCNQ2c.1467A>G (p.Ser489=)
c.1521A>G (p.Ser507=)
c.918A>G (p.Ser306=)
c.1431A>G (p.Ser477=)
c.1089A>G (p.Ser363=)
c.1437A>G (p.Ser479=)
c.1401A>G (p.Ser467=)
c.581A>G
c.129A>G (p.Ser43=)
c.1491A>G (p.Ser497=)
c.1395A>G (p.Ser465=)
c.1002A>G (p.Ser334=)
c.1398A>G (p.Ser466=)
c.429A>G (p.Ser143=)
 gnomAD v4
20g.63414907T>GCA511339606KCNQ2c.1467A>C (p.Ser489=)
c.1521A>C (p.Ser507=)
c.918A>C (p.Ser306=)
c.1431A>C (p.Ser477=)
c.1089A>C (p.Ser363=)
c.1437A>C (p.Ser479=)
c.1401A>C (p.Ser467=)
c.581A>C
c.129A>C (p.Ser43=)
c.1491A>C (p.Ser497=)
c.1395A>C (p.Ser465=)
c.1002A>C (p.Ser334=)
c.1398A>C (p.Ser466=)
c.429A>C (p.Ser143=)
20g.63414907dupCA2695230082KCNQ2c.1467dup (p.Glu490ArgfsTer13)
c.1521dup (p.Glu508ArgfsTer13)
c.918dup (p.Glu307ArgfsTer13)
c.1431dup (p.Glu478ArgfsTer12)
c.1089dup (p.Glu364ArgfsTer13)
c.1437dup (p.Glu480ArgfsTer13)
c.1401dup (p.Glu468ArgfsTer13)
c.581dup
c.129dup (p.Glu44ArgfsTer13)
c.1521dup (p.Glu508ArgfsTer12)
c.1491dup (p.Glu498ArgfsTer13)
c.1395dup (p.Glu466ArgfsTer13)
c.1002dup (p.Glu335ArgfsTer13)
c.1467dup (p.Glu490ArgfsTer12)
c.1398dup (p.Glu467ArgfsTer13)
c.429dup (p.Glu144ArgfsTer13)
20g.63414908G>ACA409646058KCNQ2c.1466C>T (p.Ser489Leu)
c.1520C>T (p.Ser507Leu)
c.917C>T (p.Ser306Leu)
c.1430C>T (p.Ser477Leu)
c.1088C>T (p.Ser363Leu)
c.1436C>T (p.Ser479Leu)
c.1400C>T (p.Ser467Leu)
c.580C>T
c.128C>T (p.Ser43Leu)
c.1490C>T (p.Ser497Leu)
c.1394C>T (p.Ser465Leu)
c.1001C>T (p.Ser334Leu)
c.1397C>T (p.Ser466Leu)
c.428C>T (p.Ser143Leu)
20g.63414908G>CCA409646061KCNQ2c.1466C>G (p.Ser489Ter)
c.1520C>G (p.Ser507Ter)
c.917C>G (p.Ser306Ter)
c.1430C>G (p.Ser477Ter)
c.1088C>G (p.Ser363Ter)
c.1436C>G (p.Ser479Ter)
c.1400C>G (p.Ser467Ter)
c.580C>G
c.128C>G (p.Ser43Ter)
c.1490C>G (p.Ser497Ter)
c.1394C>G (p.Ser465Ter)
c.1001C>G (p.Ser334Ter)
c.1397C>G (p.Ser466Ter)
c.428C>G (p.Ser143Ter)
20g.63414908G>TCA409646060KCNQ2c.1466C>A (p.Ser489Ter)
c.1520C>A (p.Ser507Ter)
c.917C>A (p.Ser306Ter)
c.1430C>A (p.Ser477Ter)
c.1088C>A (p.Ser363Ter)
c.1436C>A (p.Ser479Ter)
c.1400C>A (p.Ser467Ter)
c.580C>A
c.128C>A (p.Ser43Ter)
c.1490C>A (p.Ser497Ter)
c.1394C>A (p.Ser465Ter)
c.1001C>A (p.Ser334Ter)
c.1397C>A (p.Ser466Ter)
c.428C>A (p.Ser143Ter)
 ClinVar
20g.63414909A>CCA409646063KCNQ2c.1465T>G (p.Ser489Ala)
c.1519T>G (p.Ser507Ala)
c.916T>G (p.Ser306Ala)
c.1429T>G (p.Ser477Ala)
c.1087T>G (p.Ser363Ala)
c.1435T>G (p.Ser479Ala)
c.1399T>G (p.Ser467Ala)
c.579T>G
c.127T>G (p.Ser43Ala)
c.1489T>G (p.Ser497Ala)
c.1393T>G (p.Ser465Ala)
c.1000T>G (p.Ser334Ala)
c.1396T>G (p.Ser466Ala)
c.427T>G (p.Ser143Ala)
20g.63414909A>GCA409646065KCNQ2c.1465T>C (p.Ser489Pro)
c.1519T>C (p.Ser507Pro)
c.916T>C (p.Ser306Pro)
c.1429T>C (p.Ser477Pro)
c.1087T>C (p.Ser363Pro)
c.1435T>C (p.Ser479Pro)
c.1399T>C (p.Ser467Pro)
c.579T>C
c.127T>C (p.Ser43Pro)
c.1489T>C (p.Ser497Pro)
c.1393T>C (p.Ser465Pro)
c.1000T>C (p.Ser334Pro)
c.1396T>C (p.Ser466Pro)
c.427T>C (p.Ser143Pro)
20g.63414909A>TCA409646068KCNQ2c.1465T>A (p.Ser489Thr)
c.1519T>A (p.Ser507Thr)
c.916T>A (p.Ser306Thr)
c.1429T>A (p.Ser477Thr)
c.1087T>A (p.Ser363Thr)
c.1435T>A (p.Ser479Thr)
c.1399T>A (p.Ser467Thr)
c.579T>A
c.127T>A (p.Ser43Thr)
c.1489T>A (p.Ser497Thr)
c.1393T>A (p.Ser465Thr)
c.1000T>A (p.Ser334Thr)
c.1396T>A (p.Ser466Thr)
c.427T>A (p.Ser143Thr)
20g.63414910G>ACA511339609KCNQ2c.1464C>T (p.Asn488=)
c.1518C>T (p.Asn506=)
c.915C>T (p.Asn305=)
c.1428C>T (p.Asn476=)
c.1086C>T (p.Asn362=)
c.1434C>T (p.Asn478=)
c.1398C>T (p.Asn466=)
c.578C>T
c.126C>T (p.Asn42=)
c.1488C>T (p.Asn496=)
c.1392C>T (p.Asn464=)
c.999C>T (p.Asn333=)
c.1395C>T (p.Asn465=)
c.426C>T (p.Asn142=)
 gnomAD v4
20g.63414910G>CCA409646071KCNQ2c.1464C>G (p.Asn488Lys)
c.1518C>G (p.Asn506Lys)
c.915C>G (p.Asn305Lys)
c.1428C>G (p.Asn476Lys)
c.1086C>G (p.Asn362Lys)
c.1434C>G (p.Asn478Lys)
c.1398C>G (p.Asn466Lys)
c.578C>G
c.126C>G (p.Asn42Lys)
c.1488C>G (p.Asn496Lys)
c.1392C>G (p.Asn464Lys)
c.999C>G (p.Asn333Lys)
c.1395C>G (p.Asn465Lys)
c.426C>G (p.Asn142Lys)
20g.63414910G>TCA409646075KCNQ2c.1464C>A (p.Asn488Lys)
c.1518C>A (p.Asn506Lys)
c.915C>A (p.Asn305Lys)
c.1428C>A (p.Asn476Lys)
c.1086C>A (p.Asn362Lys)
c.1434C>A (p.Asn478Lys)
c.1398C>A (p.Asn466Lys)
c.578C>A
c.126C>A (p.Asn42Lys)
c.1488C>A (p.Asn496Lys)
c.1392C>A (p.Asn464Lys)
c.999C>A (p.Asn333Lys)
c.1395C>A (p.Asn465Lys)
c.426C>A (p.Asn142Lys)
20g.63414911T>ACA409646078KCNQ2c.1463A>T (p.Asn488Ile)
c.1517A>T (p.Asn506Ile)
c.914A>T (p.Asn305Ile)
c.1427A>T (p.Asn476Ile)
c.1085A>T (p.Asn362Ile)
c.1433A>T (p.Asn478Ile)
c.1397A>T (p.Asn466Ile)
c.577A>T
c.125A>T (p.Asn42Ile)
c.1487A>T (p.Asn496Ile)
c.1391A>T (p.Asn464Ile)
c.998A>T (p.Asn333Ile)
c.1394A>T (p.Asn465Ile)
c.425A>T (p.Asn142Ile)
20g.63414911T>CCA409646079KCNQ2c.1463A>G (p.Asn488Ser)
c.1517A>G (p.Asn506Ser)
c.914A>G (p.Asn305Ser)
c.1427A>G (p.Asn476Ser)
c.1085A>G (p.Asn362Ser)
c.1433A>G (p.Asn478Ser)
c.1397A>G (p.Asn466Ser)
c.577A>G
c.125A>G (p.Asn42Ser)
c.1487A>G (p.Asn496Ser)
c.1391A>G (p.Asn464Ser)
c.998A>G (p.Asn333Ser)
c.1394A>G (p.Asn465Ser)
c.425A>G (p.Asn142Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.63414911T>GCA409646080KCNQ2c.1463A>C (p.Asn488Thr)
c.1517A>C (p.Asn506Thr)
c.914A>C (p.Asn305Thr)
c.1427A>C (p.Asn476Thr)
c.1085A>C (p.Asn362Thr)
c.1433A>C (p.Asn478Thr)
c.1397A>C (p.Asn466Thr)
c.577A>C
c.125A>C (p.Asn42Thr)
c.1487A>C (p.Asn496Thr)
c.1391A>C (p.Asn464Thr)
c.998A>C (p.Asn333Thr)
c.1394A>C (p.Asn465Thr)
c.425A>C (p.Asn142Thr)
20g.63414911T=CA2374778758KCNQ2c.1463A= (p.Asn488=)
c.1517A= (p.Asn506=)
c.914A= (p.Asn305=)
c.1427A= (p.Asn476=)
c.1085A= (p.Asn362=)
c.1433A= (p.Asn478=)
c.1397A= (p.Asn466=)
c.577A=
c.125A= (p.Asn42=)
c.1487A= (p.Asn496=)
c.1391A= (p.Asn464=)
c.998A= (p.Asn333=)
c.1394A= (p.Asn465=)
c.425A= (p.Asn142=)
20g.63414912T>ACA9958442KCNQ2c.1462A>T (p.Asn488Tyr)
c.1516A>T (p.Asn506Tyr)
c.913A>T (p.Asn305Tyr)
c.1426A>T (p.Asn476Tyr)
c.1084A>T (p.Asn362Tyr)
c.1432A>T (p.Asn478Tyr)
c.1396A>T (p.Asn466Tyr)
c.576A>T
c.124A>T (p.Asn42Tyr)
c.1486A>T (p.Asn496Tyr)
c.1390A>T (p.Asn464Tyr)
c.997A>T (p.Asn333Tyr)
c.1393A>T (p.Asn465Tyr)
c.424A>T (p.Asn142Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414912T>CCA409646084KCNQ2c.1462A>G (p.Asn488Asp)
c.1516A>G (p.Asn506Asp)
c.913A>G (p.Asn305Asp)
c.1426A>G (p.Asn476Asp)
c.1084A>G (p.Asn362Asp)
c.1432A>G (p.Asn478Asp)
c.1396A>G (p.Asn466Asp)
c.576A>G
c.124A>G (p.Asn42Asp)
c.1486A>G (p.Asn496Asp)
c.1390A>G (p.Asn464Asp)
c.997A>G (p.Asn333Asp)
c.1393A>G (p.Asn465Asp)
c.424A>G (p.Asn142Asp)
20g.63414912T>GCA409646087KCNQ2c.1462A>C (p.Asn488His)
c.1516A>C (p.Asn506His)
c.913A>C (p.Asn305His)
c.1426A>C (p.Asn476His)
c.1084A>C (p.Asn362His)
c.1432A>C (p.Asn478His)
c.1396A>C (p.Asn466His)
c.576A>C
c.124A>C (p.Asn42His)
c.1486A>C (p.Asn496His)
c.1390A>C (p.Asn464His)
c.997A>C (p.Asn333His)
c.1393A>C (p.Asn465His)
c.424A>C (p.Asn142His)
 dbSNP gnomAD v2 gnomAD v4
20g.63414912T=CA2374778759KCNQ2c.1462A= (p.Asn488=)
c.1516A= (p.Asn506=)
c.913A= (p.Asn305=)
c.1426A= (p.Asn476=)
c.1084A= (p.Asn362=)
c.1432A= (p.Asn478=)
c.1396A= (p.Asn466=)
c.576A=
c.124A= (p.Asn42=)
c.1486A= (p.Asn496=)
c.1390A= (p.Asn464=)
c.997A= (p.Asn333=)
c.1393A= (p.Asn465=)
c.424A= (p.Asn142=)
20g.63414913C>ACA409646090KCNQ2c.1461G>T (p.Gln487His)
c.1515G>T (p.Gln505His)
c.912G>T (p.Gln304His)
c.1425G>T (p.Gln475His)
c.1083G>T (p.Gln361His)
c.1431G>T (p.Gln477His)
c.1395G>T (p.Gln465His)
c.575G>T
c.123G>T (p.Gln41His)
c.1485G>T (p.Gln495His)
c.1389G>T (p.Gln463His)
c.996G>T (p.Gln332His)
c.1392G>T (p.Gln464His)
c.423G>T (p.Gln141His)
20g.63414913C>GCA409646093KCNQ2c.1461G>C (p.Gln487His)
c.1515G>C (p.Gln505His)
c.912G>C (p.Gln304His)
c.1425G>C (p.Gln475His)
c.1083G>C (p.Gln361His)
c.1431G>C (p.Gln477His)
c.1395G>C (p.Gln465His)
c.575G>C
c.123G>C (p.Gln41His)
c.1485G>C (p.Gln495His)
c.1389G>C (p.Gln463His)
c.996G>C (p.Gln332His)
c.1392G>C (p.Gln464His)
c.423G>C (p.Gln141His)
20g.63414913C>TCA511339615KCNQ2c.1461G>A (p.Gln487=)
c.1515G>A (p.Gln505=)
c.912G>A (p.Gln304=)
c.1425G>A (p.Gln475=)
c.1083G>A (p.Gln361=)
c.1431G>A (p.Gln477=)
c.1395G>A (p.Gln465=)
c.575G>A
c.123G>A (p.Gln41=)
c.1485G>A (p.Gln495=)
c.1389G>A (p.Gln463=)
c.996G>A (p.Gln332=)
c.1392G>A (p.Gln464=)
c.423G>A (p.Gln141=)
 gnomAD v4
20g.63414914T>ACA409646096KCNQ2c.1460A>T (p.Gln487Leu)
c.1514A>T (p.Gln505Leu)
c.911A>T (p.Gln304Leu)
c.1424A>T (p.Gln475Leu)
c.1082A>T (p.Gln361Leu)
c.1430A>T (p.Gln477Leu)
c.1394A>T (p.Gln465Leu)
c.574A>T
c.122A>T (p.Gln41Leu)
c.1484A>T (p.Gln495Leu)
c.1388A>T (p.Gln463Leu)
c.995A>T (p.Gln332Leu)
c.1391A>T (p.Gln464Leu)
c.422A>T (p.Gln141Leu)
 COSMIC COSMIC COSMIC
20g.63414914T>CCA409646101KCNQ2c.1460A>G (p.Gln487Arg)
c.1514A>G (p.Gln505Arg)
c.911A>G (p.Gln304Arg)
c.1424A>G (p.Gln475Arg)
c.1082A>G (p.Gln361Arg)
c.1430A>G (p.Gln477Arg)
c.1394A>G (p.Gln465Arg)
c.574A>G
c.122A>G (p.Gln41Arg)
c.1484A>G (p.Gln495Arg)
c.1388A>G (p.Gln463Arg)
c.995A>G (p.Gln332Arg)
c.1391A>G (p.Gln464Arg)
c.422A>G (p.Gln141Arg)
 gnomAD v4
20g.63414914T>GCA409646104KCNQ2c.1460A>C (p.Gln487Pro)
c.1514A>C (p.Gln505Pro)
c.911A>C (p.Gln304Pro)
c.1424A>C (p.Gln475Pro)
c.1082A>C (p.Gln361Pro)
c.1430A>C (p.Gln477Pro)
c.1394A>C (p.Gln465Pro)
c.574A>C
c.122A>C (p.Gln41Pro)
c.1484A>C (p.Gln495Pro)
c.1388A>C (p.Gln463Pro)
c.995A>C (p.Gln332Pro)
c.1391A>C (p.Gln464Pro)
c.422A>C (p.Gln141Pro)
20g.63414915G>ACA409646108KCNQ2c.1459C>T (p.Gln487Ter)
c.1513C>T (p.Gln505Ter)
c.910C>T (p.Gln304Ter)
c.1423C>T (p.Gln475Ter)
c.1081C>T (p.Gln361Ter)
c.1429C>T (p.Gln477Ter)
c.1393C>T (p.Gln465Ter)
c.573C>T
c.121C>T (p.Gln41Ter)
c.1483C>T (p.Gln495Ter)
c.1387C>T (p.Gln463Ter)
c.994C>T (p.Gln332Ter)
c.1390C>T (p.Gln464Ter)
c.421C>T (p.Gln141Ter)
20g.63414915G>CCA409646110KCNQ2c.1459C>G (p.Gln487Glu)
c.1513C>G (p.Gln505Glu)
c.910C>G (p.Gln304Glu)
c.1423C>G (p.Gln475Glu)
c.1081C>G (p.Gln361Glu)
c.1429C>G (p.Gln477Glu)
c.1393C>G (p.Gln465Glu)
c.573C>G
c.121C>G (p.Gln41Glu)
c.1483C>G (p.Gln495Glu)
c.1387C>G (p.Gln463Glu)
c.994C>G (p.Gln332Glu)
c.1390C>G (p.Gln464Glu)
c.421C>G (p.Gln141Glu)
20g.63414915G=CA2374778760KCNQ2c.1459C= (p.Gln487=)
c.1513C= (p.Gln505=)
c.910C= (p.Gln304=)
c.1423C= (p.Gln475=)
c.1081C= (p.Gln361=)
c.1429C= (p.Gln477=)
c.1393C= (p.Gln465=)
c.573C=
c.121C= (p.Gln41=)
c.1483C= (p.Gln495=)
c.1387C= (p.Gln463=)
c.994C= (p.Gln332=)
c.1390C= (p.Gln464=)
c.421C= (p.Gln141=)
20g.63414915G>TCA9958443KCNQ2c.1459C>A (p.Gln487Lys)
c.1513C>A (p.Gln505Lys)
c.910C>A (p.Gln304Lys)
c.1423C>A (p.Gln475Lys)
c.1081C>A (p.Gln361Lys)
c.1429C>A (p.Gln477Lys)
c.1393C>A (p.Gln465Lys)
c.573C>A
c.121C>A (p.Gln41Lys)
c.1483C>A (p.Gln495Lys)
c.1387C>A (p.Gln463Lys)
c.994C>A (p.Gln332Lys)
c.1390C>A (p.Gln464Lys)
c.421C>A (p.Gln141Lys)
 dbSNP ExAC
20g.63414916C>ACA511339618KCNQ2c.1458G>T (p.Arg486=)
c.1512G>T (p.Arg504=)
c.909G>T (p.Arg303=)
c.1422G>T (p.Arg474=)
c.1080G>T (p.Arg360=)
c.1428G>T (p.Arg476=)
c.1392G>T (p.Arg464=)
c.572G>T
c.120G>T (p.Arg40=)
c.1482G>T (p.Arg494=)
c.1386G>T (p.Arg462=)
c.993G>T (p.Arg331=)
c.1389G>T (p.Arg463=)
c.420G>T (p.Arg140=)
20g.63414916C=CA2374778761KCNQ2c.1458G= (p.Arg486=)
c.1512G= (p.Arg504=)
c.909G= (p.Arg303=)
c.1422G= (p.Arg474=)
c.1080G= (p.Arg360=)
c.1428G= (p.Arg476=)
c.1392G= (p.Arg464=)
c.572G=
c.120G= (p.Arg40=)
c.1482G= (p.Arg494=)
c.1386G= (p.Arg462=)
c.993G= (p.Arg331=)
c.1389G= (p.Arg463=)
c.420G= (p.Arg140=)
20g.63414916C>GCA511339620KCNQ2c.1458G>C (p.Arg486=)
c.1512G>C (p.Arg504=)
c.909G>C (p.Arg303=)
c.1422G>C (p.Arg474=)
c.1080G>C (p.Arg360=)
c.1428G>C (p.Arg476=)
c.1392G>C (p.Arg464=)
c.572G>C
c.120G>C (p.Arg40=)
c.1482G>C (p.Arg494=)
c.1386G>C (p.Arg462=)
c.993G>C (p.Arg331=)
c.1389G>C (p.Arg463=)
c.420G>C (p.Arg140=)
20g.63414916C>TCA9958444KCNQ2c.1458G>A (p.Arg486=)
c.1512G>A (p.Arg504=)
c.909G>A (p.Arg303=)
c.1422G>A (p.Arg474=)
c.1080G>A (p.Arg360=)
c.1428G>A (p.Arg476=)
c.1392G>A (p.Arg464=)
c.572G>A
c.120G>A (p.Arg40=)
c.1482G>A (p.Arg494=)
c.1386G>A (p.Arg462=)
c.993G>A (p.Arg331=)
c.1389G>A (p.Arg463=)
c.420G>A (p.Arg140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414917C>ACA409646119KCNQ2c.1457G>T (p.Arg486Leu)
c.1511G>T (p.Arg504Leu)
c.908G>T (p.Arg303Leu)
c.1421G>T (p.Arg474Leu)
c.1079G>T (p.Arg360Leu)
c.1427G>T (p.Arg476Leu)
c.1391G>T (p.Arg464Leu)
c.571G>T
c.119G>T (p.Arg40Leu)
c.1481G>T (p.Arg494Leu)
c.1385G>T (p.Arg462Leu)
c.992G>T (p.Arg331Leu)
c.1388G>T (p.Arg463Leu)
c.419G>T (p.Arg140Leu)
20g.63414917C=CA2374778762KCNQ2c.1457G= (p.Arg486=)
c.1511G= (p.Arg504=)
c.908G= (p.Arg303=)
c.1421G= (p.Arg474=)
c.1079G= (p.Arg360=)
c.1427G= (p.Arg476=)
c.1391G= (p.Arg464=)
c.571G=
c.119G= (p.Arg40=)
c.1481G= (p.Arg494=)
c.1385G= (p.Arg462=)
c.992G= (p.Arg331=)
c.1388G= (p.Arg463=)
c.419G= (p.Arg140=)
20g.63414917C>GCA409646114KCNQ2c.1457G>C (p.Arg486Pro)
c.1511G>C (p.Arg504Pro)
c.908G>C (p.Arg303Pro)
c.1421G>C (p.Arg474Pro)
c.1079G>C (p.Arg360Pro)
c.1427G>C (p.Arg476Pro)
c.1391G>C (p.Arg464Pro)
c.571G>C
c.119G>C (p.Arg40Pro)
c.1481G>C (p.Arg494Pro)
c.1385G>C (p.Arg462Pro)
c.992G>C (p.Arg331Pro)
c.1388G>C (p.Arg463Pro)
c.419G>C (p.Arg140Pro)
20g.63414917C>TCA9958445KCNQ2c.1457G>A (p.Arg486Gln)
c.1511G>A (p.Arg504Gln)
c.908G>A (p.Arg303Gln)
c.1421G>A (p.Arg474Gln)
c.1079G>A (p.Arg360Gln)
c.1427G>A (p.Arg476Gln)
c.1391G>A (p.Arg464Gln)
c.571G>A
c.119G>A (p.Arg40Gln)
c.1481G>A (p.Arg494Gln)
c.1385G>A (p.Arg462Gln)
c.992G>A (p.Arg331Gln)
c.1388G>A (p.Arg463Gln)
c.419G>A (p.Arg140Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414917_63415288delinsTCA2739277255KCNQ2c.1248-162_1457delinsA
c.1302-162_1511delinsA
c.699-162_908delinsA
c.1248-198_1421delinsA
c.906-198_1079delinsA
c.1218-162_1427delinsA
c.1218-198_1391delinsA
c.362-162_571delinsA
c.1272-162_1481delinsA
c.1176-162_1385delinsA
c.783-162_992delinsA
c.1179-162_1388delinsA
c.210-162_419delinsA
 ClinVar
20g.63414918G>ACA409646122KCNQ2c.1456C>T (p.Arg486Trp)
c.1510C>T (p.Arg504Trp)
c.907C>T (p.Arg303Trp)
c.1420C>T (p.Arg474Trp)
c.1078C>T (p.Arg360Trp)
c.1426C>T (p.Arg476Trp)
c.1390C>T (p.Arg464Trp)
c.570C>T
c.118C>T (p.Arg40Trp)
c.1480C>T (p.Arg494Trp)
c.1384C>T (p.Arg462Trp)
c.991C>T (p.Arg331Trp)
c.1387C>T (p.Arg463Trp)
c.418C>T (p.Arg140Trp)
 dbSNP gnomAD v4
20g.63414918G>CCA409646129KCNQ2c.1456C>G (p.Arg486Gly)
c.1510C>G (p.Arg504Gly)
c.907C>G (p.Arg303Gly)
c.1420C>G (p.Arg474Gly)
c.1078C>G (p.Arg360Gly)
c.1426C>G (p.Arg476Gly)
c.1390C>G (p.Arg464Gly)
c.570C>G
c.118C>G (p.Arg40Gly)
c.1480C>G (p.Arg494Gly)
c.1384C>G (p.Arg462Gly)
c.991C>G (p.Arg331Gly)
c.1387C>G (p.Arg463Gly)
c.418C>G (p.Arg140Gly)
20g.63414918G=CA2374778763KCNQ2c.1456C= (p.Arg486=)
c.1510C= (p.Arg504=)
c.907C= (p.Arg303=)
c.1420C= (p.Arg474=)
c.1078C= (p.Arg360=)
c.1426C= (p.Arg476=)
c.1390C= (p.Arg464=)
c.570C=
c.118C= (p.Arg40=)
c.1480C= (p.Arg494=)
c.1384C= (p.Arg462=)
c.991C= (p.Arg331=)
c.1387C= (p.Arg463=)
c.418C= (p.Arg140=)
20g.63414918G>TCA511339625KCNQ2c.1456C>A (p.Arg486=)
c.1510C>A (p.Arg504=)
c.907C>A (p.Arg303=)
c.1420C>A (p.Arg474=)
c.1078C>A (p.Arg360=)
c.1426C>A (p.Arg476=)
c.1390C>A (p.Arg464=)
c.570C>A
c.118C>A (p.Arg40=)
c.1480C>A (p.Arg494=)
c.1384C>A (p.Arg462=)
c.991C>A (p.Arg331=)
c.1387C>A (p.Arg463=)
c.418C>A (p.Arg140=)
20g.63414919T>ACA511339627KCNQ2c.1455A>T (p.Ser485=)
c.1509A>T (p.Ser503=)
c.906A>T (p.Ser302=)
c.1419A>T (p.Ser473=)
c.1077A>T (p.Ser359=)
c.1425A>T (p.Ser475=)
c.1389A>T (p.Ser463=)
c.569A>T
c.117A>T (p.Ser39=)
c.1479A>T (p.Ser493=)
c.1383A>T (p.Ser461=)
c.990A>T (p.Ser330=)
c.1386A>T (p.Ser462=)
c.417A>T (p.Ser139=)
20g.63414919T>CCA511339628KCNQ2c.1455A>G (p.Ser485=)
c.1509A>G (p.Ser503=)
c.906A>G (p.Ser302=)
c.1419A>G (p.Ser473=)
c.1077A>G (p.Ser359=)
c.1425A>G (p.Ser475=)
c.1389A>G (p.Ser463=)
c.569A>G
c.117A>G (p.Ser39=)
c.1479A>G (p.Ser493=)
c.1383A>G (p.Ser461=)
c.990A>G (p.Ser330=)
c.1386A>G (p.Ser462=)
c.417A>G (p.Ser139=)
 gnomAD v4
20g.63414919T>GCA511339629KCNQ2c.1455A>C (p.Ser485=)
c.1509A>C (p.Ser503=)
c.906A>C (p.Ser302=)
c.1419A>C (p.Ser473=)
c.1077A>C (p.Ser359=)
c.1425A>C (p.Ser475=)
c.1389A>C (p.Ser463=)
c.569A>C
c.117A>C (p.Ser39=)
c.1479A>C (p.Ser493=)
c.1383A>C (p.Ser461=)
c.990A>C (p.Ser330=)
c.1386A>C (p.Ser462=)
c.417A>C (p.Ser139=)
 gnomAD v4
20g.63414920G>ACA409646132KCNQ2c.1454C>T (p.Ser485Leu)
c.1508C>T (p.Ser503Leu)
c.905C>T (p.Ser302Leu)
c.1418C>T (p.Ser473Leu)
c.1076C>T (p.Ser359Leu)
c.1424C>T (p.Ser475Leu)
c.1388C>T (p.Ser463Leu)
c.568C>T
c.116C>T (p.Ser39Leu)
c.1478C>T (p.Ser493Leu)
c.1382C>T (p.Ser461Leu)
c.989C>T (p.Ser330Leu)
c.1385C>T (p.Ser462Leu)
c.416C>T (p.Ser139Leu)
 COSMIC COSMIC COSMIC
20g.63414920G>CCA409646133KCNQ2c.1454C>G (p.Ser485Ter)
c.1508C>G (p.Ser503Ter)
c.905C>G (p.Ser302Ter)
c.1418C>G (p.Ser473Ter)
c.1076C>G (p.Ser359Ter)
c.1424C>G (p.Ser475Ter)
c.1388C>G (p.Ser463Ter)
c.568C>G
c.116C>G (p.Ser39Ter)
c.1478C>G (p.Ser493Ter)
c.1382C>G (p.Ser461Ter)
c.989C>G (p.Ser330Ter)
c.1385C>G (p.Ser462Ter)
c.416C>G (p.Ser139Ter)
 ClinVar dbSNP
20g.63414920G=CA2374778764KCNQ2c.1454C= (p.Ser485=)
c.1508C= (p.Ser503=)
c.905C= (p.Ser302=)
c.1418C= (p.Ser473=)
c.1076C= (p.Ser359=)
c.1424C= (p.Ser475=)
c.1388C= (p.Ser463=)
c.568C=
c.116C= (p.Ser39=)
c.1478C= (p.Ser493=)
c.1382C= (p.Ser461=)
c.989C= (p.Ser330=)
c.1385C= (p.Ser462=)
c.416C= (p.Ser139=)
20g.63414920G>TCA409646134KCNQ2c.1454C>A (p.Ser485Ter)
c.1508C>A (p.Ser503Ter)
c.905C>A (p.Ser302Ter)
c.1418C>A (p.Ser473Ter)
c.1076C>A (p.Ser359Ter)
c.1424C>A (p.Ser475Ter)
c.1388C>A (p.Ser463Ter)
c.568C>A
c.116C>A (p.Ser39Ter)
c.1478C>A (p.Ser493Ter)
c.1382C>A (p.Ser461Ter)
c.989C>A (p.Ser330Ter)
c.1385C>A (p.Ser462Ter)
c.416C>A (p.Ser139Ter)
20g.63414921A>CCA409646136KCNQ2c.1453T>G (p.Ser485Ala)
c.1507T>G (p.Ser503Ala)
c.904T>G (p.Ser302Ala)
c.1417T>G (p.Ser473Ala)
c.1075T>G (p.Ser359Ala)
c.1423T>G (p.Ser475Ala)
c.1387T>G (p.Ser463Ala)
c.567T>G
c.115T>G (p.Ser39Ala)
c.1477T>G (p.Ser493Ala)
c.1381T>G (p.Ser461Ala)
c.988T>G (p.Ser330Ala)
c.1384T>G (p.Ser462Ala)
c.415T>G (p.Ser139Ala)
20g.63414921A>GCA409646142KCNQ2c.1453T>C (p.Ser485Pro)
c.1507T>C (p.Ser503Pro)
c.904T>C (p.Ser302Pro)
c.1417T>C (p.Ser473Pro)
c.1075T>C (p.Ser359Pro)
c.1423T>C (p.Ser475Pro)
c.1387T>C (p.Ser463Pro)
c.567T>C
c.115T>C (p.Ser39Pro)
c.1477T>C (p.Ser493Pro)
c.1381T>C (p.Ser461Pro)
c.988T>C (p.Ser330Pro)
c.1384T>C (p.Ser462Pro)
c.415T>C (p.Ser139Pro)
20g.63414921A>TCA409646138KCNQ2c.1453T>A (p.Ser485Thr)
c.1507T>A (p.Ser503Thr)
c.904T>A (p.Ser302Thr)
c.1417T>A (p.Ser473Thr)
c.1075T>A (p.Ser359Thr)
c.1423T>A (p.Ser475Thr)
c.1387T>A (p.Ser463Thr)
c.567T>A
c.115T>A (p.Ser39Thr)
c.1477T>A (p.Ser493Thr)
c.1381T>A (p.Ser461Thr)
c.988T>A (p.Ser330Thr)
c.1384T>A (p.Ser462Thr)
c.415T>A (p.Ser139Thr)
 dbSNP
20g.63414922C>ACA511339634KCNQ2c.1452G>T (p.Ala484=)
c.1506G>T (p.Ala502=)
c.903G>T (p.Ala301=)
c.1416G>T (p.Ala472=)
c.1074G>T (p.Ala358=)
c.1422G>T (p.Ala474=)
c.1386G>T (p.Ala462=)
c.566G>T
c.114G>T (p.Ala38=)
c.1476G>T (p.Ala492=)
c.1380G>T (p.Ala460=)
c.987G>T (p.Ala329=)
c.1383G>T (p.Ala461=)
c.414G>T (p.Ala138=)
20g.63414922C=CA2374778765KCNQ2c.1452G= (p.Ala484=)
c.1506G= (p.Ala502=)
c.903G= (p.Ala301=)
c.1416G= (p.Ala472=)
c.1074G= (p.Ala358=)
c.1422G= (p.Ala474=)
c.1386G= (p.Ala462=)
c.566G=
c.114G= (p.Ala38=)
c.1476G= (p.Ala492=)
c.1380G= (p.Ala460=)
c.987G= (p.Ala329=)
c.1383G= (p.Ala461=)
c.414G= (p.Ala138=)
20g.63414922C>GCA511339635KCNQ2c.1452G>C (p.Ala484=)
c.1506G>C (p.Ala502=)
c.903G>C (p.Ala301=)
c.1416G>C (p.Ala472=)
c.1074G>C (p.Ala358=)
c.1422G>C (p.Ala474=)
c.1386G>C (p.Ala462=)
c.566G>C
c.114G>C (p.Ala38=)
c.1476G>C (p.Ala492=)
c.1380G>C (p.Ala460=)
c.987G>C (p.Ala329=)
c.1383G>C (p.Ala461=)
c.414G>C (p.Ala138=)
 dbSNP
20g.63414922C>TCA9958446KCNQ2c.1452G>A (p.Ala484=)
c.1506G>A (p.Ala502=)
c.903G>A (p.Ala301=)
c.1416G>A (p.Ala472=)
c.1074G>A (p.Ala358=)
c.1422G>A (p.Ala474=)
c.1386G>A (p.Ala462=)
c.566G>A
c.114G>A (p.Ala38=)
c.1476G>A (p.Ala492=)
c.1380G>A (p.Ala460=)
c.987G>A (p.Ala329=)
c.1383G>A (p.Ala461=)
c.414G>A (p.Ala138=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63414923G>ACA315447KCNQ2c.1451C>T (p.Ala484Val)
c.1505C>T (p.Ala502Val)
c.902C>T (p.Ala301Val)
c.1415C>T (p.Ala472Val)
c.1073C>T (p.Ala358Val)
c.1421C>T (p.Ala474Val)
c.1385C>T (p.Ala462Val)
c.565C>T
c.113C>T (p.Ala38Val)
c.1475C>T (p.Ala492Val)
c.1379C>T (p.Ala460Val)
c.986C>T (p.Ala329Val)
c.1382C>T (p.Ala461Val)
c.413C>T (p.Ala138Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63414923G>CCA409646144KCNQ2c.1451C>G (p.Ala484Gly)
c.1505C>G (p.Ala502Gly)
c.902C>G (p.Ala301Gly)
c.1415C>G (p.Ala472Gly)
c.1073C>G (p.Ala358Gly)
c.1421C>G (p.Ala474Gly)
c.1385C>G (p.Ala462Gly)
c.565C>G
c.113C>G (p.Ala38Gly)
c.1475C>G (p.Ala492Gly)
c.1379C>G (p.Ala460Gly)
c.986C>G (p.Ala329Gly)
c.1382C>G (p.Ala461Gly)
c.413C>G (p.Ala138Gly)
20g.63414923G=CA2374778766KCNQ2c.1451C= (p.Ala484=)
c.1505C= (p.Ala502=)
c.902C= (p.Ala301=)
c.1415C= (p.Ala472=)
c.1073C= (p.Ala358=)
c.1421C= (p.Ala474=)
c.1385C= (p.Ala462=)
c.565C=
c.113C= (p.Ala38=)
c.1475C= (p.Ala492=)
c.1379C= (p.Ala460=)
c.986C= (p.Ala329=)
c.1382C= (p.Ala461=)
c.413C= (p.Ala138=)
20g.63414923G>TCA409646145KCNQ2c.1451C>A (p.Ala484Glu)
c.1505C>A (p.Ala502Glu)
c.902C>A (p.Ala301Glu)
c.1415C>A (p.Ala472Glu)
c.1073C>A (p.Ala358Glu)
c.1421C>A (p.Ala474Glu)
c.1385C>A (p.Ala462Glu)
c.565C>A
c.113C>A (p.Ala38Glu)
c.1475C>A (p.Ala492Glu)
c.1379C>A (p.Ala460Glu)
c.986C>A (p.Ala329Glu)
c.1382C>A (p.Ala461Glu)
c.413C>A (p.Ala138Glu)
20g.63414924C>ACA409646147KCNQ2c.1450G>T (p.Ala484Ser)
c.1504G>T (p.Ala502Ser)
c.901G>T (p.Ala301Ser)
c.1414G>T (p.Ala472Ser)
c.1072G>T (p.Ala358Ser)
c.1420G>T (p.Ala474Ser)
c.1384G>T (p.Ala462Ser)
c.564G>T
c.112G>T (p.Ala38Ser)
c.1474G>T (p.Ala492Ser)
c.1378G>T (p.Ala460Ser)
c.985G>T (p.Ala329Ser)
c.1381G>T (p.Ala461Ser)
c.412G>T (p.Ala138Ser)
 ClinVar dbSNP
20g.63414924C=CA2374778767KCNQ2c.1450G= (p.Ala484=)
c.1504G= (p.Ala502=)
c.901G= (p.Ala301=)
c.1414G= (p.Ala472=)
c.1072G= (p.Ala358=)
c.1420G= (p.Ala474=)
c.1384G= (p.Ala462=)
c.564G=
c.112G= (p.Ala38=)
c.1474G= (p.Ala492=)
c.1378G= (p.Ala460=)
c.985G= (p.Ala329=)
c.1381G= (p.Ala461=)
c.412G= (p.Ala138=)
20g.63414924C>GCA409646149KCNQ2c.1450G>C (p.Ala484Pro)
c.1504G>C (p.Ala502Pro)
c.901G>C (p.Ala301Pro)
c.1414G>C (p.Ala472Pro)
c.1072G>C (p.Ala358Pro)
c.1420G>C (p.Ala474Pro)
c.1384G>C (p.Ala462Pro)
c.564G>C
c.112G>C (p.Ala38Pro)
c.1474G>C (p.Ala492Pro)
c.1378G>C (p.Ala460Pro)
c.985G>C (p.Ala329Pro)
c.1381G>C (p.Ala461Pro)
c.412G>C (p.Ala138Pro)
20g.63414924C>TCA9958447KCNQ2c.1450G>A (p.Ala484Thr)
c.1504G>A (p.Ala502Thr)
c.901G>A (p.Ala301Thr)
c.1414G>A (p.Ala472Thr)
c.1072G>A (p.Ala358Thr)
c.1420G>A (p.Ala474Thr)
c.1384G>A (p.Ala462Thr)
c.564G>A
c.112G>A (p.Ala38Thr)
c.1474G>A (p.Ala492Thr)
c.1378G>A (p.Ala460Thr)
c.985G>A (p.Ala329Thr)
c.1381G>A (p.Ala461Thr)
c.412G>A (p.Ala138Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414925G>ACA240167KCNQ2c.1449C>T (p.Ala483=)
c.1503C>T (p.Ala501=)
c.900C>T (p.Ala300=)
c.1413C>T (p.Ala471=)
c.1071C>T (p.Ala357=)
c.1419C>T (p.Ala473=)
c.1383C>T (p.Ala461=)
c.563C>T
c.111C>T (p.Ala37=)
c.1473C>T (p.Ala491=)
c.1377C>T (p.Ala459=)
c.984C>T (p.Ala328=)
c.1380C>T (p.Ala460=)
c.411C>T (p.Ala137=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414925G>CCA153290KCNQ2c.1449C>G (p.Ala483=)
c.1503C>G (p.Ala501=)
c.900C>G (p.Ala300=)
c.1413C>G (p.Ala471=)
c.1071C>G (p.Ala357=)
c.1419C>G (p.Ala473=)
c.1383C>G (p.Ala461=)
c.563C>G
c.111C>G (p.Ala37=)
c.1473C>G (p.Ala491=)
c.1377C>G (p.Ala459=)
c.984C>G (p.Ala328=)
c.1380C>G (p.Ala460=)
c.411C>G (p.Ala137=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414925G=CA2374778768KCNQ2c.1449C= (p.Ala483=)
c.1503C= (p.Ala501=)
c.900C= (p.Ala300=)
c.1413C= (p.Ala471=)
c.1071C= (p.Ala357=)
c.1419C= (p.Ala473=)
c.1383C= (p.Ala461=)
c.563C=
c.111C= (p.Ala37=)
c.1473C= (p.Ala491=)
c.1377C= (p.Ala459=)
c.984C= (p.Ala328=)
c.1380C= (p.Ala460=)
c.411C= (p.Ala137=)
20g.63414925G>TCA511339640KCNQ2c.1449C>A (p.Ala483=)
c.1503C>A (p.Ala501=)
c.900C>A (p.Ala300=)
c.1413C>A (p.Ala471=)
c.1071C>A (p.Ala357=)
c.1419C>A (p.Ala473=)
c.1383C>A (p.Ala461=)
c.563C>A
c.111C>A (p.Ala37=)
c.1473C>A (p.Ala491=)
c.1377C>A (p.Ala459=)
c.984C>A (p.Ala328=)
c.1380C>A (p.Ala460=)
c.411C>A (p.Ala137=)
 dbSNP
20g.63414925_63414926delinsCACA916083768KCNQ2c.1448_1449delinsTG (p.Ala483Val)
c.1502_1503delinsTG (p.Ala501Val)
c.899_900delinsTG (p.Ala300Val)
c.1412_1413delinsTG (p.Ala471Val)
c.1070_1071delinsTG (p.Ala357Val)
c.1418_1419delinsTG (p.Ala473Val)
c.1382_1383delinsTG (p.Ala461Val)
c.562_563delinsTG
c.110_111delinsTG (p.Ala37Val)
c.1472_1473delinsTG (p.Ala491Val)
c.1376_1377delinsTG (p.Ala459Val)
c.983_984delinsTG (p.Ala328Val)
c.1379_1380delinsTG (p.Ala460Val)
c.410_411delinsTG (p.Ala137Val)
 ClinVar dbSNP
20g.63414925_63414926delinsGGCA2374778769KCNQ2c.1448_1449delinsCC (p.Ala483=)
c.1502_1503delinsCC (p.Ala501=)
c.899_900delinsCC (p.Ala300=)
c.1412_1413delinsCC (p.Ala471=)
c.1070_1071delinsCC (p.Ala357=)
c.1418_1419delinsCC (p.Ala473=)
c.1382_1383delinsCC (p.Ala461=)
c.562_563delinsCC
c.110_111delinsCC (p.Ala37=)
c.1472_1473delinsCC (p.Ala491=)
c.1376_1377delinsCC (p.Ala459=)
c.983_984delinsCC (p.Ala328=)
c.1379_1380delinsCC (p.Ala460=)
c.410_411delinsCC (p.Ala137=)
20g.63414926G>ACA409646161KCNQ2c.1448C>T (p.Ala483Val)
c.1502C>T (p.Ala501Val)
c.899C>T (p.Ala300Val)
c.1412C>T (p.Ala471Val)
c.1070C>T (p.Ala357Val)
c.1418C>T (p.Ala473Val)
c.1382C>T (p.Ala461Val)
c.562C>T
c.110C>T (p.Ala37Val)
c.1472C>T (p.Ala491Val)
c.1376C>T (p.Ala459Val)
c.983C>T (p.Ala328Val)
c.1379C>T (p.Ala460Val)
c.410C>T (p.Ala137Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63414926G>CCA409646165KCNQ2c.1448C>G (p.Ala483Gly)
c.1502C>G (p.Ala501Gly)
c.899C>G (p.Ala300Gly)
c.1412C>G (p.Ala471Gly)
c.1070C>G (p.Ala357Gly)
c.1418C>G (p.Ala473Gly)
c.1382C>G (p.Ala461Gly)
c.562C>G
c.110C>G (p.Ala37Gly)
c.1472C>G (p.Ala491Gly)
c.1376C>G (p.Ala459Gly)
c.983C>G (p.Ala328Gly)
c.1379C>G (p.Ala460Gly)
c.410C>G (p.Ala137Gly)
20g.63414926G=CA2374778770KCNQ2c.1448C= (p.Ala483=)
c.1502C= (p.Ala501=)
c.899C= (p.Ala300=)
c.1412C= (p.Ala471=)
c.1070C= (p.Ala357=)
c.1418C= (p.Ala473=)
c.1382C= (p.Ala461=)
c.562C=
c.110C= (p.Ala37=)
c.1472C= (p.Ala491=)
c.1376C= (p.Ala459=)
c.983C= (p.Ala328=)
c.1379C= (p.Ala460=)
c.410C= (p.Ala137=)
20g.63414926G>TCA409646167KCNQ2c.1448C>A (p.Ala483Asp)
c.1502C>A (p.Ala501Asp)
c.899C>A (p.Ala300Asp)
c.1412C>A (p.Ala471Asp)
c.1070C>A (p.Ala357Asp)
c.1418C>A (p.Ala473Asp)
c.1382C>A (p.Ala461Asp)
c.562C>A
c.110C>A (p.Ala37Asp)
c.1472C>A (p.Ala491Asp)
c.1376C>A (p.Ala459Asp)
c.983C>A (p.Ala328Asp)
c.1379C>A (p.Ala460Asp)
c.410C>A (p.Ala137Asp)
 gnomAD v4
20g.63414927C>ACA409646174KCNQ2c.1447G>T (p.Ala483Ser)
c.1501G>T (p.Ala501Ser)
c.898G>T (p.Ala300Ser)
c.1411G>T (p.Ala471Ser)
c.1069G>T (p.Ala357Ser)
c.1417G>T (p.Ala473Ser)
c.1381G>T (p.Ala461Ser)
c.561G>T
c.109G>T (p.Ala37Ser)
c.1471G>T (p.Ala491Ser)
c.1375G>T (p.Ala459Ser)
c.982G>T (p.Ala328Ser)
c.1378G>T (p.Ala460Ser)
c.409G>T (p.Ala137Ser)
20g.63414927C=CA2374778771KCNQ2c.1447G= (p.Ala483=)
c.1501G= (p.Ala501=)
c.898G= (p.Ala300=)
c.1411G= (p.Ala471=)
c.1069G= (p.Ala357=)
c.1417G= (p.Ala473=)
c.1381G= (p.Ala461=)
c.561G=
c.109G= (p.Ala37=)
c.1471G= (p.Ala491=)
c.1375G= (p.Ala459=)
c.982G= (p.Ala328=)
c.1378G= (p.Ala460=)
c.409G= (p.Ala137=)
20g.63414927C>GCA10654788KCNQ2c.1447G>C (p.Ala483Pro)
c.1501G>C (p.Ala501Pro)
c.898G>C (p.Ala300Pro)
c.1411G>C (p.Ala471Pro)
c.1069G>C (p.Ala357Pro)
c.1417G>C (p.Ala473Pro)
c.1381G>C (p.Ala461Pro)
c.561G>C
c.109G>C (p.Ala37Pro)
c.1471G>C (p.Ala491Pro)
c.1375G>C (p.Ala459Pro)
c.982G>C (p.Ala328Pro)
c.1378G>C (p.Ala460Pro)
c.409G>C (p.Ala137Pro)
 ClinVar dbSNP
20g.63414927C>TCA409646171KCNQ2c.1447G>A (p.Ala483Thr)
c.1501G>A (p.Ala501Thr)
c.898G>A (p.Ala300Thr)
c.1411G>A (p.Ala471Thr)
c.1069G>A (p.Ala357Thr)
c.1417G>A (p.Ala473Thr)
c.1381G>A (p.Ala461Thr)
c.561G>A
c.109G>A (p.Ala37Thr)
c.1471G>A (p.Ala491Thr)
c.1375G>A (p.Ala459Thr)
c.982G>A (p.Ala328Thr)
c.1378G>A (p.Ala460Thr)
c.409G>A (p.Ala137Thr)
 dbSNP
20g.63414928A>CCA511339646KCNQ2c.1446T>G (p.Gly482=)
c.1500T>G (p.Gly500=)
c.897T>G (p.Gly299=)
c.1410T>G (p.Gly470=)
c.1068T>G (p.Gly356=)
c.1416T>G (p.Gly472=)
c.1380T>G (p.Gly460=)
c.560T>G
c.108T>G (p.Gly36=)
c.1470T>G (p.Gly490=)
c.1374T>G (p.Gly458=)
c.981T>G (p.Gly327=)
c.1377T>G (p.Gly459=)
c.408T>G (p.Gly136=)
20g.63414928A>GCA511339643KCNQ2c.1446T>C (p.Gly482=)
c.1500T>C (p.Gly500=)
c.897T>C (p.Gly299=)
c.1410T>C (p.Gly470=)
c.1068T>C (p.Gly356=)
c.1416T>C (p.Gly472=)
c.1380T>C (p.Gly460=)
c.560T>C
c.108T>C (p.Gly36=)
c.1470T>C (p.Gly490=)
c.1374T>C (p.Gly458=)
c.981T>C (p.Gly327=)
c.1377T>C (p.Gly459=)
c.408T>C (p.Gly136=)
 dbSNP
20g.63414928A>TCA511339642KCNQ2c.1446T>A (p.Gly482=)
c.1500T>A (p.Gly500=)
c.897T>A (p.Gly299=)
c.1410T>A (p.Gly470=)
c.1068T>A (p.Gly356=)
c.1416T>A (p.Gly472=)
c.1380T>A (p.Gly460=)
c.560T>A
c.108T>A (p.Gly36=)
c.1470T>A (p.Gly490=)
c.1374T>A (p.Gly458=)
c.981T>A (p.Gly327=)
c.1377T>A (p.Gly459=)
c.408T>A (p.Gly136=)
20g.63414929C>ACA409646180KCNQ2c.1445G>T (p.Gly482Val)
c.1499G>T (p.Gly500Val)
c.896G>T (p.Gly299Val)
c.1409G>T (p.Gly470Val)
c.1067G>T (p.Gly356Val)
c.1415G>T (p.Gly472Val)
c.1379G>T (p.Gly460Val)
c.559G>T
c.107G>T (p.Gly36Val)
c.1469G>T (p.Gly490Val)
c.1373G>T (p.Gly458Val)
c.980G>T (p.Gly327Val)
c.1376G>T (p.Gly459Val)
c.407G>T (p.Gly136Val)
20g.63414929C>GCA409646183KCNQ2c.1445G>C (p.Gly482Ala)
c.1499G>C (p.Gly500Ala)
c.896G>C (p.Gly299Ala)
c.1409G>C (p.Gly470Ala)
c.1067G>C (p.Gly356Ala)
c.1415G>C (p.Gly472Ala)
c.1379G>C (p.Gly460Ala)
c.559G>C
c.107G>C (p.Gly36Ala)
c.1469G>C (p.Gly490Ala)
c.1373G>C (p.Gly458Ala)
c.980G>C (p.Gly327Ala)
c.1376G>C (p.Gly459Ala)
c.407G>C (p.Gly136Ala)
 gnomAD v4
20g.63414929C>TCA409646186KCNQ2c.1445G>A (p.Gly482Asp)
c.1499G>A (p.Gly500Asp)
c.896G>A (p.Gly299Asp)
c.1409G>A (p.Gly470Asp)
c.1067G>A (p.Gly356Asp)
c.1415G>A (p.Gly472Asp)
c.1379G>A (p.Gly460Asp)
c.559G>A
c.107G>A (p.Gly36Asp)
c.1469G>A (p.Gly490Asp)
c.1373G>A (p.Gly458Asp)
c.980G>A (p.Gly327Asp)
c.1376G>A (p.Gly459Asp)
c.407G>A (p.Gly136Asp)
 ClinVar
20g.63414930C>ACA409646187KCNQ2c.1444G>T (p.Gly482Cys)
c.1498G>T (p.Gly500Cys)
c.895G>T (p.Gly299Cys)
c.1408G>T (p.Gly470Cys)
c.1066G>T (p.Gly356Cys)
c.1414G>T (p.Gly472Cys)
c.1378G>T (p.Gly460Cys)
c.558G>T
c.106G>T (p.Gly36Cys)
c.1468G>T (p.Gly490Cys)
c.1372G>T (p.Gly458Cys)
c.979G>T (p.Gly327Cys)
c.1375G>T (p.Gly459Cys)
c.406G>T (p.Gly136Cys)
20g.63414930C=CA2374778772KCNQ2c.1444G= (p.Gly482=)
c.1498G= (p.Gly500=)
c.895G= (p.Gly299=)
c.1408G= (p.Gly470=)
c.1066G= (p.Gly356=)
c.1414G= (p.Gly472=)
c.1378G= (p.Gly460=)
c.558G=
c.106G= (p.Gly36=)
c.1468G= (p.Gly490=)
c.1372G= (p.Gly458=)
c.979G= (p.Gly327=)
c.1375G= (p.Gly459=)
c.406G= (p.Gly136=)
20g.63414930C>GCA409646189KCNQ2c.1444G>C (p.Gly482Arg)
c.1498G>C (p.Gly500Arg)
c.895G>C (p.Gly299Arg)
c.1408G>C (p.Gly470Arg)
c.1066G>C (p.Gly356Arg)
c.1414G>C (p.Gly472Arg)
c.1378G>C (p.Gly460Arg)
c.558G>C
c.106G>C (p.Gly36Arg)
c.1468G>C (p.Gly490Arg)
c.1372G>C (p.Gly458Arg)
c.979G>C (p.Gly327Arg)
c.1375G>C (p.Gly459Arg)
c.406G>C (p.Gly136Arg)
20g.63414930C>TCA409646190KCNQ2c.1444G>A (p.Gly482Ser)
c.1498G>A (p.Gly500Ser)
c.895G>A (p.Gly299Ser)
c.1408G>A (p.Gly470Ser)
c.1066G>A (p.Gly356Ser)
c.1414G>A (p.Gly472Ser)
c.1378G>A (p.Gly460Ser)
c.558G>A
c.106G>A (p.Gly36Ser)
c.1468G>A (p.Gly490Ser)
c.1372G>A (p.Gly458Ser)
c.979G>A (p.Gly327Ser)
c.1375G>A (p.Gly459Ser)
c.406G>A (p.Gly136Ser)
 ClinVar dbSNP gnomAD v4
20g.63414931C>ACA409646191KCNQ2c.1443G>T (p.Lys481Asn)
c.1497G>T (p.Lys499Asn)
c.894G>T (p.Lys298Asn)
c.1407G>T (p.Lys469Asn)
c.1065G>T (p.Lys355Asn)
c.1413G>T (p.Lys471Asn)
c.1377G>T (p.Lys459Asn)
c.557G>T
c.105G>T (p.Lys35Asn)
c.1467G>T (p.Lys489Asn)
c.1371G>T (p.Lys457Asn)
c.978G>T (p.Lys326Asn)
c.1374G>T (p.Lys458Asn)
c.405G>T (p.Lys135Asn)
 COSMIC COSMIC COSMIC
20g.63414931C=CA2374778773KCNQ2c.1443G= (p.Lys481=)
c.1497G= (p.Lys499=)
c.894G= (p.Lys298=)
c.1407G= (p.Lys469=)
c.1065G= (p.Lys355=)
c.1413G= (p.Lys471=)
c.1377G= (p.Lys459=)
c.557G=
c.105G= (p.Lys35=)
c.1467G= (p.Lys489=)
c.1371G= (p.Lys457=)
c.978G= (p.Lys326=)
c.1374G= (p.Lys458=)
c.405G= (p.Lys135=)
20g.63414931C>GCA409646193KCNQ2c.1443G>C (p.Lys481Asn)
c.1497G>C (p.Lys499Asn)
c.894G>C (p.Lys298Asn)
c.1407G>C (p.Lys469Asn)
c.1065G>C (p.Lys355Asn)
c.1413G>C (p.Lys471Asn)
c.1377G>C (p.Lys459Asn)
c.557G>C
c.105G>C (p.Lys35Asn)
c.1467G>C (p.Lys489Asn)
c.1371G>C (p.Lys457Asn)
c.978G>C (p.Lys326Asn)
c.1374G>C (p.Lys458Asn)
c.405G>C (p.Lys135Asn)
 COSMIC COSMIC COSMIC
20g.63414931C>TCA511339650KCNQ2c.1443G>A (p.Lys481=)
c.1497G>A (p.Lys499=)
c.894G>A (p.Lys298=)
c.1407G>A (p.Lys469=)
c.1065G>A (p.Lys355=)
c.1413G>A (p.Lys471=)
c.1377G>A (p.Lys459=)
c.557G>A
c.105G>A (p.Lys35=)
c.1467G>A (p.Lys489=)
c.1371G>A (p.Lys457=)
c.978G>A (p.Lys326=)
c.1374G>A (p.Lys458=)
c.405G>A (p.Lys135=)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
20g.63414932T>ACA409646196KCNQ2c.1442A>T (p.Lys481Met)
c.1496A>T (p.Lys499Met)
c.893A>T (p.Lys298Met)
c.1406A>T (p.Lys469Met)
c.1064A>T (p.Lys355Met)
c.1412A>T (p.Lys471Met)
c.1376A>T (p.Lys459Met)
c.556A>T
c.104A>T (p.Lys35Met)
c.1466A>T (p.Lys489Met)
c.1370A>T (p.Lys457Met)
c.977A>T (p.Lys326Met)
c.1373A>T (p.Lys458Met)
c.404A>T (p.Lys135Met)
20g.63414932T>CCA317430923KCNQ2c.1442A>G (p.Lys481Arg)
c.1496A>G (p.Lys499Arg)
c.893A>G (p.Lys298Arg)
c.1406A>G (p.Lys469Arg)
c.1064A>G (p.Lys355Arg)
c.1412A>G (p.Lys471Arg)
c.1376A>G (p.Lys459Arg)
c.556A>G
c.104A>G (p.Lys35Arg)
c.1466A>G (p.Lys489Arg)
c.1370A>G (p.Lys457Arg)
c.977A>G (p.Lys326Arg)
c.1373A>G (p.Lys458Arg)
c.404A>G (p.Lys135Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.63414932T>GCA409646197KCNQ2c.1442A>C (p.Lys481Thr)
c.1496A>C (p.Lys499Thr)
c.893A>C (p.Lys298Thr)
c.1406A>C (p.Lys469Thr)
c.1064A>C (p.Lys355Thr)
c.1412A>C (p.Lys471Thr)
c.1376A>C (p.Lys459Thr)
c.556A>C
c.104A>C (p.Lys35Thr)
c.1466A>C (p.Lys489Thr)
c.1370A>C (p.Lys457Thr)
c.977A>C (p.Lys326Thr)
c.1373A>C (p.Lys458Thr)
c.404A>C (p.Lys135Thr)
20g.63414932T=CA2374778774KCNQ2c.1442A= (p.Lys481=)
c.1496A= (p.Lys499=)
c.893A= (p.Lys298=)
c.1406A= (p.Lys469=)
c.1064A= (p.Lys355=)
c.1412A= (p.Lys471=)
c.1376A= (p.Lys459=)
c.556A=
c.104A= (p.Lys35=)
c.1466A= (p.Lys489=)
c.1370A= (p.Lys457=)
c.977A= (p.Lys326=)
c.1373A= (p.Lys458=)
c.404A= (p.Lys135=)
20g.63414933T>ACA409646198KCNQ2c.1441A>T (p.Lys481Ter)
c.1495A>T (p.Lys499Ter)
c.892A>T (p.Lys298Ter)
c.1405A>T (p.Lys469Ter)
c.1063A>T (p.Lys355Ter)
c.1411A>T (p.Lys471Ter)
c.1375A>T (p.Lys459Ter)
c.555A>T
c.103A>T (p.Lys35Ter)
c.1465A>T (p.Lys489Ter)
c.1369A>T (p.Lys457Ter)
c.976A>T (p.Lys326Ter)
c.1372A>T (p.Lys458Ter)
c.403A>T (p.Lys135Ter)
20g.63414933T>CCA409646200KCNQ2c.1441A>G (p.Lys481Glu)
c.1495A>G (p.Lys499Glu)
c.892A>G (p.Lys298Glu)
c.1405A>G (p.Lys469Glu)
c.1063A>G (p.Lys355Glu)
c.1411A>G (p.Lys471Glu)
c.1375A>G (p.Lys459Glu)
c.555A>G
c.103A>G (p.Lys35Glu)
c.1465A>G (p.Lys489Glu)
c.1369A>G (p.Lys457Glu)
c.976A>G (p.Lys326Glu)
c.1372A>G (p.Lys458Glu)
c.403A>G (p.Lys135Glu)
20g.63414933T>GCA409646202KCNQ2c.1441A>C (p.Lys481Gln)
c.1495A>C (p.Lys499Gln)
c.892A>C (p.Lys298Gln)
c.1405A>C (p.Lys469Gln)
c.1063A>C (p.Lys355Gln)
c.1411A>C (p.Lys471Gln)
c.1375A>C (p.Lys459Gln)
c.555A>C
c.103A>C (p.Lys35Gln)
c.1465A>C (p.Lys489Gln)
c.1369A>C (p.Lys457Gln)
c.976A>C (p.Lys326Gln)
c.1372A>C (p.Lys458Gln)
c.403A>C (p.Lys135Gln)
20g.63414934G>ACA511339657KCNQ2c.1440C>T (p.Ile480=)
c.1494C>T (p.Ile498=)
c.891C>T (p.Ile297=)
c.1404C>T (p.Ile468=)
c.1062C>T (p.Ile354=)
c.1410C>T (p.Ile470=)
c.1374C>T (p.Ile458=)
c.554C>T
c.102C>T (p.Ile34=)
c.1464C>T (p.Ile488=)
c.1368C>T (p.Ile456=)
c.975C>T (p.Ile325=)
c.1371C>T (p.Ile457=)
c.402C>T (p.Ile134=)
20g.63414934G>CCA409646204KCNQ2c.1440C>G (p.Ile480Met)
c.1494C>G (p.Ile498Met)
c.891C>G (p.Ile297Met)
c.1404C>G (p.Ile468Met)
c.1062C>G (p.Ile354Met)
c.1410C>G (p.Ile470Met)
c.1374C>G (p.Ile458Met)
c.554C>G
c.102C>G (p.Ile34Met)
c.1464C>G (p.Ile488Met)
c.1368C>G (p.Ile456Met)
c.975C>G (p.Ile325Met)
c.1371C>G (p.Ile457Met)
c.402C>G (p.Ile134Met)
 gnomAD v4
20g.63414934G>TCA511339659KCNQ2c.1440C>A (p.Ile480=)
c.1494C>A (p.Ile498=)
c.891C>A (p.Ile297=)
c.1404C>A (p.Ile468=)
c.1062C>A (p.Ile354=)
c.1410C>A (p.Ile470=)
c.1374C>A (p.Ile458=)
c.554C>A
c.102C>A (p.Ile34=)
c.1464C>A (p.Ile488=)
c.1368C>A (p.Ile456=)
c.975C>A (p.Ile325=)
c.1371C>A (p.Ile457=)
c.402C>A (p.Ile134=)
 ClinVar dbSNP gnomAD v4
20g.63414935A>CCA409646207KCNQ2c.1439T>G (p.Ile480Ser)
c.1493T>G (p.Ile498Ser)
c.890T>G (p.Ile297Ser)
c.1403T>G (p.Ile468Ser)
c.1061T>G (p.Ile354Ser)
c.1409T>G (p.Ile470Ser)
c.1373T>G (p.Ile458Ser)
c.553T>G
c.101T>G (p.Ile34Ser)
c.1463T>G (p.Ile488Ser)
c.1367T>G (p.Ile456Ser)
c.974T>G (p.Ile325Ser)
c.1370T>G (p.Ile457Ser)
c.401T>G (p.Ile134Ser)
20g.63414935A>GCA409646213KCNQ2c.1439T>C (p.Ile480Thr)
c.1493T>C (p.Ile498Thr)
c.890T>C (p.Ile297Thr)
c.1403T>C (p.Ile468Thr)
c.1061T>C (p.Ile354Thr)
c.1409T>C (p.Ile470Thr)
c.1373T>C (p.Ile458Thr)
c.553T>C
c.101T>C (p.Ile34Thr)
c.1463T>C (p.Ile488Thr)
c.1367T>C (p.Ile456Thr)
c.974T>C (p.Ile325Thr)
c.1370T>C (p.Ile457Thr)
c.401T>C (p.Ile134Thr)
20g.63414935A>TCA409646211KCNQ2c.1439T>A (p.Ile480Asn)
c.1493T>A (p.Ile498Asn)
c.890T>A (p.Ile297Asn)
c.1403T>A (p.Ile468Asn)
c.1061T>A (p.Ile354Asn)
c.1409T>A (p.Ile470Asn)
c.1373T>A (p.Ile458Asn)
c.553T>A
c.101T>A (p.Ile34Asn)
c.1463T>A (p.Ile488Asn)
c.1367T>A (p.Ile456Asn)
c.974T>A (p.Ile325Asn)
c.1370T>A (p.Ile457Asn)
c.401T>A (p.Ile134Asn)
20g.63414936T>ACA409646216KCNQ2c.1438A>T (p.Ile480Phe)
c.1492A>T (p.Ile498Phe)
c.889A>T (p.Ile297Phe)
c.1402A>T (p.Ile468Phe)
c.1060A>T (p.Ile354Phe)
c.1408A>T (p.Ile470Phe)
c.1372A>T (p.Ile458Phe)
c.552A>T
c.100A>T (p.Ile34Phe)
c.1462A>T (p.Ile488Phe)
c.1366A>T (p.Ile456Phe)
c.973A>T (p.Ile325Phe)
c.1369A>T (p.Ile457Phe)
c.400A>T (p.Ile134Phe)
20g.63414936T>CCA409646217KCNQ2c.1438A>G (p.Ile480Val)
c.1492A>G (p.Ile498Val)
c.889A>G (p.Ile297Val)
c.1402A>G (p.Ile468Val)
c.1060A>G (p.Ile354Val)
c.1408A>G (p.Ile470Val)
c.1372A>G (p.Ile458Val)
c.552A>G
c.100A>G (p.Ile34Val)
c.1462A>G (p.Ile488Val)
c.1366A>G (p.Ile456Val)
c.973A>G (p.Ile325Val)
c.1369A>G (p.Ile457Val)
c.400A>G (p.Ile134Val)
 ClinVar dbSNP
20g.63414936T>GCA409646218KCNQ2c.1438A>C (p.Ile480Leu)
c.1492A>C (p.Ile498Leu)
c.889A>C (p.Ile297Leu)
c.1402A>C (p.Ile468Leu)
c.1060A>C (p.Ile354Leu)
c.1408A>C (p.Ile470Leu)
c.1372A>C (p.Ile458Leu)
c.552A>C
c.100A>C (p.Ile34Leu)
c.1462A>C (p.Ile488Leu)
c.1366A>C (p.Ile456Leu)
c.973A>C (p.Ile325Leu)
c.1369A>C (p.Ile457Leu)
c.400A>C (p.Ile134Leu)
 dbSNP gnomAD v3 gnomAD v4
20g.63414936T=CA2374778775KCNQ2c.1438A= (p.Ile480=)
c.1492A= (p.Ile498=)
c.889A= (p.Ile297=)
c.1402A= (p.Ile468=)
c.1060A= (p.Ile354=)
c.1408A= (p.Ile470=)
c.1372A= (p.Ile458=)
c.552A=
c.100A= (p.Ile34=)
c.1462A= (p.Ile488=)
c.1366A= (p.Ile456=)
c.973A= (p.Ile325=)
c.1369A= (p.Ile457=)
c.400A= (p.Ile134=)
20g.63414937G>ACA511339660KCNQ2c.1437C>T (p.Arg479=)
c.1491C>T (p.Arg497=)
c.888C>T (p.Arg296=)
c.1401C>T (p.Arg467=)
c.1059C>T (p.Arg353=)
c.1407C>T (p.Arg469=)
c.1371C>T (p.Arg457=)
c.551C>T
c.99C>T (p.Arg33=)
c.1461C>T (p.Arg487=)
c.1365C>T (p.Arg455=)
c.972C>T (p.Arg324=)
c.1368C>T (p.Arg456=)
c.399C>T (p.Arg133=)
 dbSNP gnomAD v2 gnomAD v4
20g.63414937G>CCA511339661KCNQ2c.1437C>G (p.Arg479=)
c.1491C>G (p.Arg497=)
c.888C>G (p.Arg296=)
c.1401C>G (p.Arg467=)
c.1059C>G (p.Arg353=)
c.1407C>G (p.Arg469=)
c.1371C>G (p.Arg457=)
c.551C>G
c.99C>G (p.Arg33=)
c.1461C>G (p.Arg487=)
c.1365C>G (p.Arg455=)
c.972C>G (p.Arg324=)
c.1368C>G (p.Arg456=)
c.399C>G (p.Arg133=)
20g.63414937G=CA2374778776KCNQ2c.1437C= (p.Arg479=)
c.1491C= (p.Arg497=)
c.888C= (p.Arg296=)
c.1401C= (p.Arg467=)
c.1059C= (p.Arg353=)
c.1407C= (p.Arg469=)
c.1371C= (p.Arg457=)
c.551C=
c.99C= (p.Arg33=)
c.1461C= (p.Arg487=)
c.1365C= (p.Arg455=)
c.972C= (p.Arg324=)
c.1368C= (p.Arg456=)
c.399C= (p.Arg133=)
20g.63414937G>TCA511339662KCNQ2c.1437C>A (p.Arg479=)
c.1491C>A (p.Arg497=)
c.888C>A (p.Arg296=)
c.1401C>A (p.Arg467=)
c.1059C>A (p.Arg353=)
c.1407C>A (p.Arg469=)
c.1371C>A (p.Arg457=)
c.551C>A
c.99C>A (p.Arg33=)
c.1461C>A (p.Arg487=)
c.1365C>A (p.Arg455=)
c.972C>A (p.Arg324=)
c.1368C>A (p.Arg456=)
c.399C>A (p.Arg133=)
20g.63414938C>ACA409646219KCNQ2c.1436G>T (p.Arg479Leu)
c.1490G>T (p.Arg497Leu)
c.887G>T (p.Arg296Leu)
c.1400G>T (p.Arg467Leu)
c.1058G>T (p.Arg353Leu)
c.1406G>T (p.Arg469Leu)
c.1370G>T (p.Arg457Leu)
c.550G>T
c.98G>T (p.Arg33Leu)
c.1460G>T (p.Arg487Leu)
c.1364G>T (p.Arg455Leu)
c.971G>T (p.Arg324Leu)
c.1367G>T (p.Arg456Leu)
c.398G>T (p.Arg133Leu)
 ClinVar gnomAD v4
20g.63414938C=CA2374778777KCNQ2c.1436G= (p.Arg479=)
c.1490G= (p.Arg497=)
c.887G= (p.Arg296=)
c.1400G= (p.Arg467=)
c.1058G= (p.Arg353=)
c.1406G= (p.Arg469=)
c.1370G= (p.Arg457=)
c.550G=
c.98G= (p.Arg33=)
c.1460G= (p.Arg487=)
c.1364G= (p.Arg455=)
c.971G= (p.Arg324=)
c.1367G= (p.Arg456=)
c.398G= (p.Arg133=)
20g.63414938C>GCA409646222KCNQ2c.1436G>C (p.Arg479Pro)
c.1490G>C (p.Arg497Pro)
c.887G>C (p.Arg296Pro)
c.1400G>C (p.Arg467Pro)
c.1058G>C (p.Arg353Pro)
c.1406G>C (p.Arg469Pro)
c.1370G>C (p.Arg457Pro)
c.550G>C
c.98G>C (p.Arg33Pro)
c.1460G>C (p.Arg487Pro)
c.1364G>C (p.Arg455Pro)
c.971G>C (p.Arg324Pro)
c.1367G>C (p.Arg456Pro)
c.398G>C (p.Arg133Pro)
20g.63414938C>TCA9958448KCNQ2c.1436G>A (p.Arg479His)
c.1490G>A (p.Arg497His)
c.887G>A (p.Arg296His)
c.1400G>A (p.Arg467His)
c.1058G>A (p.Arg353His)
c.1406G>A (p.Arg469His)
c.1370G>A (p.Arg457His)
c.550G>A
c.98G>A (p.Arg33His)
c.1460G>A (p.Arg487His)
c.1364G>A (p.Arg455His)
c.971G>A (p.Arg324His)
c.1367G>A (p.Arg456His)
c.398G>A (p.Arg133His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414939G>ACA9958449KCNQ2c.1435C>T (p.Arg479Cys)
c.1489C>T (p.Arg497Cys)
c.886C>T (p.Arg296Cys)
c.1399C>T (p.Arg467Cys)
c.1057C>T (p.Arg353Cys)
c.1405C>T (p.Arg469Cys)
c.1369C>T (p.Arg457Cys)
c.549C>T
c.97C>T (p.Arg33Cys)
c.1459C>T (p.Arg487Cys)
c.1363C>T (p.Arg455Cys)
c.970C>T (p.Arg324Cys)
c.1366C>T (p.Arg456Cys)
c.397C>T (p.Arg133Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414939G>CCA409646227KCNQ2c.1435C>G (p.Arg479Gly)
c.1489C>G (p.Arg497Gly)
c.886C>G (p.Arg296Gly)
c.1399C>G (p.Arg467Gly)
c.1057C>G (p.Arg353Gly)
c.1405C>G (p.Arg469Gly)
c.1369C>G (p.Arg457Gly)
c.549C>G
c.97C>G (p.Arg33Gly)
c.1459C>G (p.Arg487Gly)
c.1363C>G (p.Arg455Gly)
c.970C>G (p.Arg324Gly)
c.1366C>G (p.Arg456Gly)
c.397C>G (p.Arg133Gly)
20g.63414939G=CA2374778778KCNQ2c.1435C= (p.Arg479=)
c.1489C= (p.Arg497=)
c.886C= (p.Arg296=)
c.1399C= (p.Arg467=)
c.1057C= (p.Arg353=)
c.1405C= (p.Arg469=)
c.1369C= (p.Arg457=)
c.549C=
c.97C= (p.Arg33=)
c.1459C= (p.Arg487=)
c.1363C= (p.Arg455=)
c.970C= (p.Arg324=)
c.1366C= (p.Arg456=)
c.397C= (p.Arg133=)
20g.63414939G>TCA409646229KCNQ2c.1435C>A (p.Arg479Ser)
c.1489C>A (p.Arg497Ser)
c.886C>A (p.Arg296Ser)
c.1399C>A (p.Arg467Ser)
c.1057C>A (p.Arg353Ser)
c.1405C>A (p.Arg469Ser)
c.1369C>A (p.Arg457Ser)
c.549C>A
c.97C>A (p.Arg33Ser)
c.1459C>A (p.Arg487Ser)
c.1363C>A (p.Arg455Ser)
c.970C>A (p.Arg324Ser)
c.1366C>A (p.Arg456Ser)
c.397C>A (p.Arg133Ser)
20g.63414940G>ACA511339665KCNQ2c.1434C>T (p.Phe478=)
c.1488C>T (p.Phe496=)
c.885C>T (p.Phe295=)
c.1398C>T (p.Phe466=)
c.1056C>T (p.Phe352=)
c.1404C>T (p.Phe468=)
c.1368C>T (p.Phe456=)
c.548C>T
c.96C>T (p.Phe32=)
c.1458C>T (p.Phe486=)
c.1362C>T (p.Phe454=)
c.969C>T (p.Phe323=)
c.1365C>T (p.Phe455=)
c.396C>T (p.Phe132=)
20g.63414940G>CCA409646232KCNQ2c.1434C>G (p.Phe478Leu)
c.1488C>G (p.Phe496Leu)
c.885C>G (p.Phe295Leu)
c.1398C>G (p.Phe466Leu)
c.1056C>G (p.Phe352Leu)
c.1404C>G (p.Phe468Leu)
c.1368C>G (p.Phe456Leu)
c.548C>G
c.96C>G (p.Phe32Leu)
c.1458C>G (p.Phe486Leu)
c.1362C>G (p.Phe454Leu)
c.969C>G (p.Phe323Leu)
c.1365C>G (p.Phe455Leu)
c.396C>G (p.Phe132Leu)
20g.63414940G>TCA409646239KCNQ2c.1434C>A (p.Phe478Leu)
c.1488C>A (p.Phe496Leu)
c.885C>A (p.Phe295Leu)
c.1398C>A (p.Phe466Leu)
c.1056C>A (p.Phe352Leu)
c.1404C>A (p.Phe468Leu)
c.1368C>A (p.Phe456Leu)
c.548C>A
c.96C>A (p.Phe32Leu)
c.1458C>A (p.Phe486Leu)
c.1362C>A (p.Phe454Leu)
c.969C>A (p.Phe323Leu)
c.1365C>A (p.Phe455Leu)
c.396C>A (p.Phe132Leu)
20g.63414941A>CCA409646241KCNQ2c.1433T>G (p.Phe478Cys)
c.1487T>G (p.Phe496Cys)
c.884T>G (p.Phe295Cys)
c.1397T>G (p.Phe466Cys)
c.1055T>G (p.Phe352Cys)
c.1403T>G (p.Phe468Cys)
c.1367T>G (p.Phe456Cys)
c.547T>G
c.95T>G (p.Phe32Cys)
c.1457T>G (p.Phe486Cys)
c.1361T>G (p.Phe454Cys)
c.968T>G (p.Phe323Cys)
c.1364T>G (p.Phe455Cys)
c.395T>G (p.Phe132Cys)
20g.63414941A>GCA409646247KCNQ2c.1433T>C (p.Phe478Ser)
c.1487T>C (p.Phe496Ser)
c.884T>C (p.Phe295Ser)
c.1397T>C (p.Phe466Ser)
c.1055T>C (p.Phe352Ser)
c.1403T>C (p.Phe468Ser)
c.1367T>C (p.Phe456Ser)
c.547T>C
c.95T>C (p.Phe32Ser)
c.1457T>C (p.Phe486Ser)
c.1361T>C (p.Phe454Ser)
c.968T>C (p.Phe323Ser)
c.1364T>C (p.Phe455Ser)
c.395T>C (p.Phe132Ser)
20g.63414941A>TCA409646243KCNQ2c.1433T>A (p.Phe478Tyr)
c.1487T>A (p.Phe496Tyr)
c.884T>A (p.Phe295Tyr)
c.1397T>A (p.Phe466Tyr)
c.1055T>A (p.Phe352Tyr)
c.1403T>A (p.Phe468Tyr)
c.1367T>A (p.Phe456Tyr)
c.547T>A
c.95T>A (p.Phe32Tyr)
c.1457T>A (p.Phe486Tyr)
c.1361T>A (p.Phe454Tyr)
c.968T>A (p.Phe323Tyr)
c.1364T>A (p.Phe455Tyr)
c.395T>A (p.Phe132Tyr)
20g.63414942A=CA2374778779KCNQ2c.1432T= (p.Phe478=)
c.1486T= (p.Phe496=)
c.883T= (p.Phe295=)
c.1396T= (p.Phe466=)
c.1054T= (p.Phe352=)
c.1402T= (p.Phe468=)
c.1366T= (p.Phe456=)
c.546T=
c.94T= (p.Phe32=)
c.1456T= (p.Phe486=)
c.1360T= (p.Phe454=)
c.967T= (p.Phe323=)
c.1363T= (p.Phe455=)
c.394T= (p.Phe132=)
20g.63414942A>CCA409646253KCNQ2c.1432T>G (p.Phe478Val)
c.1486T>G (p.Phe496Val)
c.883T>G (p.Phe295Val)
c.1396T>G (p.Phe466Val)
c.1054T>G (p.Phe352Val)
c.1402T>G (p.Phe468Val)
c.1366T>G (p.Phe456Val)
c.546T>G
c.94T>G (p.Phe32Val)
c.1456T>G (p.Phe486Val)
c.1360T>G (p.Phe454Val)
c.967T>G (p.Phe323Val)
c.1363T>G (p.Phe455Val)
c.394T>G (p.Phe132Val)
20g.63414942A>GCA409646256KCNQ2c.1432T>C (p.Phe478Leu)
c.1486T>C (p.Phe496Leu)
c.883T>C (p.Phe295Leu)
c.1396T>C (p.Phe466Leu)
c.1054T>C (p.Phe352Leu)
c.1402T>C (p.Phe468Leu)
c.1366T>C (p.Phe456Leu)
c.546T>C
c.94T>C (p.Phe32Leu)
c.1456T>C (p.Phe486Leu)
c.1360T>C (p.Phe454Leu)
c.967T>C (p.Phe323Leu)
c.1363T>C (p.Phe455Leu)
c.394T>C (p.Phe132Leu)
20g.63414942A>TCA9958450KCNQ2c.1432T>A (p.Phe478Ile)
c.1486T>A (p.Phe496Ile)
c.883T>A (p.Phe295Ile)
c.1396T>A (p.Phe466Ile)
c.1054T>A (p.Phe352Ile)
c.1402T>A (p.Phe468Ile)
c.1366T>A (p.Phe456Ile)
c.546T>A
c.94T>A (p.Phe32Ile)
c.1456T>A (p.Phe486Ile)
c.1360T>A (p.Phe454Ile)
c.967T>A (p.Phe323Ile)
c.1363T>A (p.Phe455Ile)
c.394T>A (p.Phe132Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414943A>CCA511339667KCNQ2c.1431T>G (p.Ala477=)
c.1485T>G (p.Ala495=)
c.882T>G (p.Ala294=)
c.1395T>G (p.Ala465=)
c.1053T>G (p.Ala351=)
c.1401T>G (p.Ala467=)
c.1365T>G (p.Ala455=)
c.545T>G
c.93T>G (p.Ala31=)
c.1455T>G (p.Ala485=)
c.1359T>G (p.Ala453=)
c.966T>G (p.Ala322=)
c.1362T>G (p.Ala454=)
c.393T>G (p.Ala131=)
20g.63414943A>GCA511339668KCNQ2c.1431T>C (p.Ala477=)
c.1485T>C (p.Ala495=)
c.882T>C (p.Ala294=)
c.1395T>C (p.Ala465=)
c.1053T>C (p.Ala351=)
c.1401T>C (p.Ala467=)
c.1365T>C (p.Ala455=)
c.545T>C
c.93T>C (p.Ala31=)
c.1455T>C (p.Ala485=)
c.1359T>C (p.Ala453=)
c.966T>C (p.Ala322=)
c.1362T>C (p.Ala454=)
c.393T>C (p.Ala131=)
 gnomAD v4
20g.63414943A>TCA511339669KCNQ2c.1431T>A (p.Ala477=)
c.1485T>A (p.Ala495=)
c.882T>A (p.Ala294=)
c.1395T>A (p.Ala465=)
c.1053T>A (p.Ala351=)
c.1401T>A (p.Ala467=)
c.1365T>A (p.Ala455=)
c.545T>A
c.93T>A (p.Ala31=)
c.1455T>A (p.Ala485=)
c.1359T>A (p.Ala453=)
c.966T>A (p.Ala322=)
c.1362T>A (p.Ala454=)
c.393T>A (p.Ala131=)
20g.63414944G>ACA409646257KCNQ2c.1430C>T (p.Ala477Val)
c.1484C>T (p.Ala495Val)
c.881C>T (p.Ala294Val)
c.1394C>T (p.Ala465Val)
c.1052C>T (p.Ala351Val)
c.1400C>T (p.Ala467Val)
c.1364C>T (p.Ala455Val)
c.544C>T
c.92C>T (p.Ala31Val)
c.1454C>T (p.Ala485Val)
c.1358C>T (p.Ala453Val)
c.965C>T (p.Ala322Val)
c.1361C>T (p.Ala454Val)
c.392C>T (p.Ala131Val)
20g.63414944G>CCA409646258KCNQ2c.1430C>G (p.Ala477Gly)
c.1484C>G (p.Ala495Gly)
c.881C>G (p.Ala294Gly)
c.1394C>G (p.Ala465Gly)
c.1052C>G (p.Ala351Gly)
c.1400C>G (p.Ala467Gly)
c.1364C>G (p.Ala455Gly)
c.544C>G
c.92C>G (p.Ala31Gly)
c.1454C>G (p.Ala485Gly)
c.1358C>G (p.Ala453Gly)
c.965C>G (p.Ala322Gly)
c.1361C>G (p.Ala454Gly)
c.392C>G (p.Ala131Gly)
20g.63414944G>TCA409646259KCNQ2c.1430C>A (p.Ala477Asp)
c.1484C>A (p.Ala495Asp)
c.881C>A (p.Ala294Asp)
c.1394C>A (p.Ala465Asp)
c.1052C>A (p.Ala351Asp)
c.1400C>A (p.Ala467Asp)
c.1364C>A (p.Ala455Asp)
c.544C>A
c.92C>A (p.Ala31Asp)
c.1454C>A (p.Ala485Asp)
c.1358C>A (p.Ala453Asp)
c.965C>A (p.Ala322Asp)
c.1361C>A (p.Ala454Asp)
c.392C>A (p.Ala131Asp)
20g.63414945C>ACA409646261KCNQ2c.1429G>T (p.Ala477Ser)
c.1483G>T (p.Ala495Ser)
c.880G>T (p.Ala294Ser)
c.1393G>T (p.Ala465Ser)
c.1051G>T (p.Ala351Ser)
c.1399G>T (p.Ala467Ser)
c.1363G>T (p.Ala455Ser)
c.543G>T
c.91G>T (p.Ala31Ser)
c.1453G>T (p.Ala485Ser)
c.1357G>T (p.Ala453Ser)
c.964G>T (p.Ala322Ser)
c.1360G>T (p.Ala454Ser)
c.391G>T (p.Ala131Ser)
20g.63414945C=CA2374778781KCNQ2c.1429G= (p.Ala477=)
c.1483G= (p.Ala495=)
c.880G= (p.Ala294=)
c.1393G= (p.Ala465=)
c.1051G= (p.Ala351=)
c.1399G= (p.Ala467=)
c.1363G= (p.Ala455=)
c.543G=
c.91G= (p.Ala31=)
c.1453G= (p.Ala485=)
c.1357G= (p.Ala453=)
c.964G= (p.Ala322=)
c.1360G= (p.Ala454=)
c.391G= (p.Ala131=)
20g.63414945C>GCA9958451KCNQ2c.1429G>C (p.Ala477Pro)
c.1483G>C (p.Ala495Pro)
c.880G>C (p.Ala294Pro)
c.1393G>C (p.Ala465Pro)
c.1051G>C (p.Ala351Pro)
c.1399G>C (p.Ala467Pro)
c.1363G>C (p.Ala455Pro)
c.543G>C
c.91G>C (p.Ala31Pro)
c.1453G>C (p.Ala485Pro)
c.1357G>C (p.Ala453Pro)
c.964G>C (p.Ala322Pro)
c.1360G>C (p.Ala454Pro)
c.391G>C (p.Ala131Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414945C>TCA409646262KCNQ2c.1429G>A (p.Ala477Thr)
c.1483G>A (p.Ala495Thr)
c.880G>A (p.Ala294Thr)
c.1393G>A (p.Ala465Thr)
c.1051G>A (p.Ala351Thr)
c.1399G>A (p.Ala467Thr)
c.1363G>A (p.Ala455Thr)
c.543G>A
c.91G>A (p.Ala31Thr)
c.1453G>A (p.Ala485Thr)
c.1357G>A (p.Ala453Thr)
c.964G>A (p.Ala322Thr)
c.1360G>A (p.Ala454Thr)
c.391G>A (p.Ala131Thr)
 gnomAD v4
20g.63414945_63414948delinsCCTGCA2374778780KCNQ2c.1426_1429delinsCAGG (p.Gln476=)
c.1480_1483delinsCAGG (p.Gln494=)
c.877_880delinsCAGG (p.Gln293=)
c.1390_1393delinsCAGG (p.Gln464=)
c.1048_1051delinsCAGG (p.Gln350=)
c.1396_1399delinsCAGG (p.Gln466=)
c.1360_1363delinsCAGG (p.Gln454=)
c.540_543delinsCAGG
c.88_91delinsCAGG (p.Gln30=)
c.1450_1453delinsCAGG (p.Gln484=)
c.1354_1357delinsCAGG (p.Gln452=)
c.961_964delinsCAGG (p.Gln321=)
c.1357_1360delinsCAGG (p.Gln453=)
c.388_391delinsCAGG (p.Gln130=)
20g.63414946C>ACA409646265KCNQ2c.1428G>T (p.Gln476His)
c.1482G>T (p.Gln494His)
c.879G>T (p.Gln293His)
c.1392G>T (p.Gln464His)
c.1050G>T (p.Gln350His)
c.1398G>T (p.Gln466His)
c.1362G>T (p.Gln454His)
c.542G>T
c.90G>T (p.Gln30His)
c.1452G>T (p.Gln484His)
c.1356G>T (p.Gln452His)
c.963G>T (p.Gln321His)
c.1359G>T (p.Gln453His)
c.390G>T (p.Gln130His)
20g.63414946C>GCA409646266KCNQ2c.1428G>C (p.Gln476His)
c.1482G>C (p.Gln494His)
c.879G>C (p.Gln293His)
c.1392G>C (p.Gln464His)
c.1050G>C (p.Gln350His)
c.1398G>C (p.Gln466His)
c.1362G>C (p.Gln454His)
c.542G>C
c.90G>C (p.Gln30His)
c.1452G>C (p.Gln484His)
c.1356G>C (p.Gln452His)
c.963G>C (p.Gln321His)
c.1359G>C (p.Gln453His)
c.390G>C (p.Gln130His)
20g.63414946C>TCA511339672KCNQ2c.1428G>A (p.Gln476=)
c.1482G>A (p.Gln494=)
c.879G>A (p.Gln293=)
c.1392G>A (p.Gln464=)
c.1050G>A (p.Gln350=)
c.1398G>A (p.Gln466=)
c.1362G>A (p.Gln454=)
c.542G>A
c.90G>A (p.Gln30=)
c.1452G>A (p.Gln484=)
c.1356G>A (p.Gln452=)
c.963G>A (p.Gln321=)
c.1359G>A (p.Gln453=)
c.390G>A (p.Gln130=)
20g.63414946_63414948delCA317430957KCNQ2c.1426_1428del (p.Gln476del)
c.1480_1482del (p.Gln494del)
c.877_879del (p.Gln293del)
c.1390_1392del (p.Gln464del)
c.1048_1050del (p.Gln350del)
c.1396_1398del (p.Gln466del)
c.1360_1362del (p.Gln454del)
c.540_542del
c.88_90del (p.Gln30del)
c.1450_1452del (p.Gln484del)
c.1354_1356del (p.Gln452del)
c.961_963del (p.Gln321del)
c.1357_1359del (p.Gln453del)
c.388_390del (p.Gln130del)
 dbSNP
20g.63414947T>ACA409646270KCNQ2c.1427A>T (p.Gln476Leu)
c.1481A>T (p.Gln494Leu)
c.878A>T (p.Gln293Leu)
c.1391A>T (p.Gln464Leu)
c.1049A>T (p.Gln350Leu)
c.1397A>T (p.Gln466Leu)
c.1361A>T (p.Gln454Leu)
c.541A>T
c.89A>T (p.Gln30Leu)
c.1451A>T (p.Gln484Leu)
c.1355A>T (p.Gln452Leu)
c.962A>T (p.Gln321Leu)
c.1358A>T (p.Gln453Leu)
c.389A>T (p.Gln130Leu)
20g.63414947T>CCA409646271KCNQ2c.1427A>G (p.Gln476Arg)
c.1481A>G (p.Gln494Arg)
c.878A>G (p.Gln293Arg)
c.1391A>G (p.Gln464Arg)
c.1049A>G (p.Gln350Arg)
c.1397A>G (p.Gln466Arg)
c.1361A>G (p.Gln454Arg)
c.541A>G
c.89A>G (p.Gln30Arg)
c.1451A>G (p.Gln484Arg)
c.1355A>G (p.Gln452Arg)
c.962A>G (p.Gln321Arg)
c.1358A>G (p.Gln453Arg)
c.389A>G (p.Gln130Arg)
20g.63414947T>GCA409646276KCNQ2c.1427A>C (p.Gln476Pro)
c.1481A>C (p.Gln494Pro)
c.878A>C (p.Gln293Pro)
c.1391A>C (p.Gln464Pro)
c.1049A>C (p.Gln350Pro)
c.1397A>C (p.Gln466Pro)
c.1361A>C (p.Gln454Pro)
c.541A>C
c.89A>C (p.Gln30Pro)
c.1451A>C (p.Gln484Pro)
c.1355A>C (p.Gln452Pro)
c.962A>C (p.Gln321Pro)
c.1358A>C (p.Gln453Pro)
c.389A>C (p.Gln130Pro)
20g.63414948G>ACA409646279KCNQ2c.1426C>T (p.Gln476Ter)
c.1480C>T (p.Gln494Ter)
c.877C>T (p.Gln293Ter)
c.1390C>T (p.Gln464Ter)
c.1048C>T (p.Gln350Ter)
c.1396C>T (p.Gln466Ter)
c.1360C>T (p.Gln454Ter)
c.540C>T
c.88C>T (p.Gln30Ter)
c.1450C>T (p.Gln484Ter)
c.1354C>T (p.Gln452Ter)
c.961C>T (p.Gln321Ter)
c.1357C>T (p.Gln453Ter)
c.388C>T (p.Gln130Ter)
 ClinVar dbSNP
20g.63414948G>CCA409646284KCNQ2c.1426C>G (p.Gln476Glu)
c.1480C>G (p.Gln494Glu)
c.877C>G (p.Gln293Glu)
c.1390C>G (p.Gln464Glu)
c.1048C>G (p.Gln350Glu)
c.1396C>G (p.Gln466Glu)
c.1360C>G (p.Gln454Glu)
c.540C>G
c.88C>G (p.Gln30Glu)
c.1450C>G (p.Gln484Glu)
c.1354C>G (p.Gln452Glu)
c.961C>G (p.Gln321Glu)
c.1357C>G (p.Gln453Glu)
c.388C>G (p.Gln130Glu)
20g.63414948G>TCA409646282KCNQ2c.1426C>A (p.Gln476Lys)
c.1480C>A (p.Gln494Lys)
c.877C>A (p.Gln293Lys)
c.1390C>A (p.Gln464Lys)
c.1048C>A (p.Gln350Lys)
c.1396C>A (p.Gln466Lys)
c.1360C>A (p.Gln454Lys)
c.540C>A
c.88C>A (p.Gln30Lys)
c.1450C>A (p.Gln484Lys)
c.1354C>A (p.Gln452Lys)
c.961C>A (p.Gln321Lys)
c.1357C>A (p.Gln453Lys)
c.388C>A (p.Gln130Lys)
20g.63414949G>ACA511339673KCNQ2c.1425C>T (p.Arg475=)
c.1479C>T (p.Arg493=)
c.876C>T (p.Arg292=)
c.1389C>T (p.Arg463=)
c.1047C>T (p.Arg349=)
c.1395C>T (p.Arg465=)
c.1359C>T (p.Arg453=)
c.539C>T
c.87C>T (p.Arg29=)
c.1449C>T (p.Arg483=)
c.1353C>T (p.Arg451=)
c.960C>T (p.Arg320=)
c.1356C>T (p.Arg452=)
c.387C>T (p.Arg129=)
20g.63414949G>CCA511339674KCNQ2c.1425C>G (p.Arg475=)
c.1479C>G (p.Arg493=)
c.876C>G (p.Arg292=)
c.1389C>G (p.Arg463=)
c.1047C>G (p.Arg349=)
c.1395C>G (p.Arg465=)
c.1359C>G (p.Arg453=)
c.539C>G
c.87C>G (p.Arg29=)
c.1449C>G (p.Arg483=)
c.1353C>G (p.Arg451=)
c.960C>G (p.Arg320=)
c.1356C>G (p.Arg452=)
c.387C>G (p.Arg129=)
20g.63414949G>TCA511339675KCNQ2c.1425C>A (p.Arg475=)
c.1479C>A (p.Arg493=)
c.876C>A (p.Arg292=)
c.1389C>A (p.Arg463=)
c.1047C>A (p.Arg349=)
c.1395C>A (p.Arg465=)
c.1359C>A (p.Arg453=)
c.539C>A
c.87C>A (p.Arg29=)
c.1449C>A (p.Arg483=)
c.1353C>A (p.Arg451=)
c.960C>A (p.Arg320=)
c.1356C>A (p.Arg452=)
c.387C>A (p.Arg129=)
20g.63414950C>ACA409646288KCNQ2c.1424G>T (p.Arg475Leu)
c.1478G>T (p.Arg493Leu)
c.875G>T (p.Arg292Leu)
c.1388G>T (p.Arg463Leu)
c.1046G>T (p.Arg349Leu)
c.1394G>T (p.Arg465Leu)
c.1358G>T (p.Arg453Leu)
c.538G>T
c.86G>T (p.Arg29Leu)
c.1448G>T (p.Arg483Leu)
c.1352G>T (p.Arg451Leu)
c.959G>T (p.Arg320Leu)
c.1355G>T (p.Arg452Leu)
c.386G>T (p.Arg129Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.63414950C=CA2374778782KCNQ2c.1424G= (p.Arg475=)
c.1478G= (p.Arg493=)
c.875G= (p.Arg292=)
c.1388G= (p.Arg463=)
c.1046G= (p.Arg349=)
c.1394G= (p.Arg465=)
c.1358G= (p.Arg453=)
c.538G=
c.86G= (p.Arg29=)
c.1448G= (p.Arg483=)
c.1352G= (p.Arg451=)
c.959G= (p.Arg320=)
c.1355G= (p.Arg452=)
c.386G= (p.Arg129=)
20g.63414950C>GCA409646291KCNQ2c.1424G>C (p.Arg475Pro)
c.1478G>C (p.Arg493Pro)
c.875G>C (p.Arg292Pro)
c.1388G>C (p.Arg463Pro)
c.1046G>C (p.Arg349Pro)
c.1394G>C (p.Arg465Pro)
c.1358G>C (p.Arg453Pro)
c.538G>C
c.86G>C (p.Arg29Pro)
c.1448G>C (p.Arg483Pro)
c.1352G>C (p.Arg451Pro)
c.959G>C (p.Arg320Pro)
c.1355G>C (p.Arg452Pro)
c.386G>C (p.Arg129Pro)
20g.63414950C>TCA9958452KCNQ2c.1424G>A (p.Arg475His)
c.1478G>A (p.Arg493His)
c.875G>A (p.Arg292His)
c.1388G>A (p.Arg463His)
c.1046G>A (p.Arg349His)
c.1394G>A (p.Arg465His)
c.1358G>A (p.Arg453His)
c.538G>A
c.86G>A (p.Arg29His)
c.1448G>A (p.Arg483His)
c.1352G>A (p.Arg451His)
c.959G>A (p.Arg320His)
c.1355G>A (p.Arg452His)
c.386G>A (p.Arg129His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414951G>ACA9958453KCNQ2c.1423C>T (p.Arg475Cys)
c.1477C>T (p.Arg493Cys)
c.874C>T (p.Arg292Cys)
c.1387C>T (p.Arg463Cys)
c.1045C>T (p.Arg349Cys)
c.1393C>T (p.Arg465Cys)
c.1357C>T (p.Arg453Cys)
c.537C>T
c.85C>T (p.Arg29Cys)
c.1447C>T (p.Arg483Cys)
c.1351C>T (p.Arg451Cys)
c.958C>T (p.Arg320Cys)
c.1354C>T (p.Arg452Cys)
c.385C>T (p.Arg129Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414951G>CCA409646295KCNQ2c.1423C>G (p.Arg475Gly)
c.1477C>G (p.Arg493Gly)
c.874C>G (p.Arg292Gly)
c.1387C>G (p.Arg463Gly)
c.1045C>G (p.Arg349Gly)
c.1393C>G (p.Arg465Gly)
c.1357C>G (p.Arg453Gly)
c.537C>G
c.85C>G (p.Arg29Gly)
c.1447C>G (p.Arg483Gly)
c.1351C>G (p.Arg451Gly)
c.958C>G (p.Arg320Gly)
c.1354C>G (p.Arg452Gly)
c.385C>G (p.Arg129Gly)
20g.63414951G=CA2374778783KCNQ2c.1423C= (p.Arg475=)
c.1477C= (p.Arg493=)
c.874C= (p.Arg292=)
c.1387C= (p.Arg463=)
c.1045C= (p.Arg349=)
c.1393C= (p.Arg465=)
c.1357C= (p.Arg453=)
c.537C=
c.85C= (p.Arg29=)
c.1447C= (p.Arg483=)
c.1351C= (p.Arg451=)
c.958C= (p.Arg320=)
c.1354C= (p.Arg452=)
c.385C= (p.Arg129=)
20g.63414951G>TCA409646297KCNQ2c.1423C>A (p.Arg475Ser)
c.1477C>A (p.Arg493Ser)
c.874C>A (p.Arg292Ser)
c.1387C>A (p.Arg463Ser)
c.1045C>A (p.Arg349Ser)
c.1393C>A (p.Arg465Ser)
c.1357C>A (p.Arg453Ser)
c.537C>A
c.85C>A (p.Arg29Ser)
c.1447C>A (p.Arg483Ser)
c.1351C>A (p.Arg451Ser)
c.958C>A (p.Arg320Ser)
c.1354C>A (p.Arg452Ser)
c.385C>A (p.Arg129Ser)
20g.63414952T>ACA511339679KCNQ2c.1422A>T (p.Ala474=)
c.1476A>T (p.Ala492=)
c.873A>T (p.Ala291=)
c.1386A>T (p.Ala462=)
c.1044A>T (p.Ala348=)
c.1392A>T (p.Ala464=)
c.1356A>T (p.Ala452=)
c.536A>T
c.84A>T (p.Ala28=)
c.1446A>T (p.Ala482=)
c.1350A>T (p.Ala450=)
c.957A>T (p.Ala319=)
c.1353A>T (p.Ala451=)
c.384A>T (p.Ala128=)
 dbSNP
20g.63414952T>CCA511339678KCNQ2c.1422A>G (p.Ala474=)
c.1476A>G (p.Ala492=)
c.873A>G (p.Ala291=)
c.1386A>G (p.Ala462=)
c.1044A>G (p.Ala348=)
c.1392A>G (p.Ala464=)
c.1356A>G (p.Ala452=)
c.536A>G
c.84A>G (p.Ala28=)
c.1446A>G (p.Ala482=)
c.1350A>G (p.Ala450=)
c.957A>G (p.Ala319=)
c.1353A>G (p.Ala451=)
c.384A>G (p.Ala128=)
20g.63414952T>GCA511339677KCNQ2c.1422A>C (p.Ala474=)
c.1476A>C (p.Ala492=)
c.873A>C (p.Ala291=)
c.1386A>C (p.Ala462=)
c.1044A>C (p.Ala348=)
c.1392A>C (p.Ala464=)
c.1356A>C (p.Ala452=)
c.536A>C
c.84A>C (p.Ala28=)
c.1446A>C (p.Ala482=)
c.1350A>C (p.Ala450=)
c.957A>C (p.Ala319=)
c.1353A>C (p.Ala451=)
c.384A>C (p.Ala128=)
20g.63414953G>ACA409646298KCNQ2c.1421C>T (p.Ala474Val)
c.1475C>T (p.Ala492Val)
c.872C>T (p.Ala291Val)
c.1385C>T (p.Ala462Val)
c.1043C>T (p.Ala348Val)
c.1391C>T (p.Ala464Val)
c.1355C>T (p.Ala452Val)
c.535C>T
c.83C>T (p.Ala28Val)
c.1445C>T (p.Ala482Val)
c.1349C>T (p.Ala450Val)
c.956C>T (p.Ala319Val)
c.1352C>T (p.Ala451Val)
c.383C>T (p.Ala128Val)
 dbSNP COSMIC COSMIC COSMIC
20g.63414953G>CCA409646299KCNQ2c.1421C>G (p.Ala474Gly)
c.1475C>G (p.Ala492Gly)
c.872C>G (p.Ala291Gly)
c.1385C>G (p.Ala462Gly)
c.1043C>G (p.Ala348Gly)
c.1391C>G (p.Ala464Gly)
c.1355C>G (p.Ala452Gly)
c.535C>G
c.83C>G (p.Ala28Gly)
c.1445C>G (p.Ala482Gly)
c.1349C>G (p.Ala450Gly)
c.956C>G (p.Ala319Gly)
c.1352C>G (p.Ala451Gly)
c.383C>G (p.Ala128Gly)
20g.63414953G>TCA409646302KCNQ2c.1421C>A (p.Ala474Glu)
c.1475C>A (p.Ala492Glu)
c.872C>A (p.Ala291Glu)
c.1385C>A (p.Ala462Glu)
c.1043C>A (p.Ala348Glu)
c.1391C>A (p.Ala464Glu)
c.1355C>A (p.Ala452Glu)
c.535C>A
c.83C>A (p.Ala28Glu)
c.1445C>A (p.Ala482Glu)
c.1349C>A (p.Ala450Glu)
c.956C>A (p.Ala319Glu)
c.1352C>A (p.Ala451Glu)
c.383C>A (p.Ala128Glu)
20g.63414954C>ACA409646306KCNQ2c.1420G>T (p.Ala474Ser)
c.1474G>T (p.Ala492Ser)
c.871G>T (p.Ala291Ser)
c.1384G>T (p.Ala462Ser)
c.1042G>T (p.Ala348Ser)
c.1390G>T (p.Ala464Ser)
c.1354G>T (p.Ala452Ser)
c.534G>T
c.82G>T (p.Ala28Ser)
c.1444G>T (p.Ala482Ser)
c.1348G>T (p.Ala450Ser)
c.955G>T (p.Ala319Ser)
c.1351G>T (p.Ala451Ser)
c.382G>T (p.Ala128Ser)
20g.63414954C>GCA409646308KCNQ2c.1420G>C (p.Ala474Pro)
c.1474G>C (p.Ala492Pro)
c.871G>C (p.Ala291Pro)
c.1384G>C (p.Ala462Pro)
c.1042G>C (p.Ala348Pro)
c.1390G>C (p.Ala464Pro)
c.1354G>C (p.Ala452Pro)
c.534G>C
c.82G>C (p.Ala28Pro)
c.1444G>C (p.Ala482Pro)
c.1348G>C (p.Ala450Pro)
c.955G>C (p.Ala319Pro)
c.1351G>C (p.Ala451Pro)
c.382G>C (p.Ala128Pro)
20g.63414954C>TCA409646304KCNQ2c.1420G>A (p.Ala474Thr)
c.1474G>A (p.Ala492Thr)
c.871G>A (p.Ala291Thr)
c.1384G>A (p.Ala462Thr)
c.1042G>A (p.Ala348Thr)
c.1390G>A (p.Ala464Thr)
c.1354G>A (p.Ala452Thr)
c.534G>A
c.82G>A (p.Ala28Thr)
c.1444G>A (p.Ala482Thr)
c.1348G>A (p.Ala450Thr)
c.955G>A (p.Ala319Thr)
c.1351G>A (p.Ala451Thr)
c.382G>A (p.Ala128Thr)
 ClinVar dbSNP
20g.63414955C>ACA511339680KCNQ2c.1419G>T (p.Arg473=)
c.1473G>T (p.Arg491=)
c.870G>T (p.Arg290=)
c.1383G>T (p.Arg461=)
c.1041G>T (p.Arg347=)
c.1389G>T (p.Arg463=)
c.1353G>T (p.Arg451=)
c.533G>T
c.81G>T (p.Arg27=)
c.1443G>T (p.Arg481=)
c.1347G>T (p.Arg449=)
c.954G>T (p.Arg318=)
c.1350G>T (p.Arg450=)
c.381G>T (p.Arg127=)
20g.63414955C=CA2374778784KCNQ2c.1419G= (p.Arg473=)
c.1473G= (p.Arg491=)
c.870G= (p.Arg290=)
c.1383G= (p.Arg461=)
c.1041G= (p.Arg347=)
c.1389G= (p.Arg463=)
c.1353G= (p.Arg451=)
c.533G=
c.81G= (p.Arg27=)
c.1443G= (p.Arg481=)
c.1347G= (p.Arg449=)
c.954G= (p.Arg318=)
c.1350G= (p.Arg450=)
c.381G= (p.Arg127=)
20g.63414955C>GCA511339682KCNQ2c.1419G>C (p.Arg473=)
c.1473G>C (p.Arg491=)
c.870G>C (p.Arg290=)
c.1383G>C (p.Arg461=)
c.1041G>C (p.Arg347=)
c.1389G>C (p.Arg463=)
c.1353G>C (p.Arg451=)
c.533G>C
c.81G>C (p.Arg27=)
c.1443G>C (p.Arg481=)
c.1347G>C (p.Arg449=)
c.954G>C (p.Arg318=)
c.1350G>C (p.Arg450=)
c.381G>C (p.Arg127=)
20g.63414955C>TCA511339683KCNQ2c.1419G>A (p.Arg473=)
c.1473G>A (p.Arg491=)
c.870G>A (p.Arg290=)
c.1383G>A (p.Arg461=)
c.1041G>A (p.Arg347=)
c.1389G>A (p.Arg463=)
c.1353G>A (p.Arg451=)
c.533G>A
c.81G>A (p.Arg27=)
c.1443G>A (p.Arg481=)
c.1347G>A (p.Arg449=)
c.954G>A (p.Arg318=)
c.1350G>A (p.Arg450=)
c.381G>A (p.Arg127=)
 dbSNP gnomAD v2
20g.63414956C>ACA409646311KCNQ2c.1418G>T (p.Arg473Leu)
c.1472G>T (p.Arg491Leu)
c.869G>T (p.Arg290Leu)
c.1382G>T (p.Arg461Leu)
c.1040G>T (p.Arg347Leu)
c.1388G>T (p.Arg463Leu)
c.1352G>T (p.Arg451Leu)
c.532G>T
c.80G>T (p.Arg27Leu)
c.1442G>T (p.Arg481Leu)
c.1346G>T (p.Arg449Leu)
c.953G>T (p.Arg318Leu)
c.1349G>T (p.Arg450Leu)
c.380G>T (p.Arg127Leu)
20g.63414956C=CA2374778785KCNQ2c.1418G= (p.Arg473=)
c.1472G= (p.Arg491=)
c.869G= (p.Arg290=)
c.1382G= (p.Arg461=)
c.1040G= (p.Arg347=)
c.1388G= (p.Arg463=)
c.1352G= (p.Arg451=)
c.532G=
c.80G= (p.Arg27=)
c.1442G= (p.Arg481=)
c.1346G= (p.Arg449=)
c.953G= (p.Arg318=)
c.1349G= (p.Arg450=)
c.380G= (p.Arg127=)
20g.63414956C>GCA409646314KCNQ2c.1418G>C (p.Arg473Pro)
c.1472G>C (p.Arg491Pro)
c.869G>C (p.Arg290Pro)
c.1382G>C (p.Arg461Pro)
c.1040G>C (p.Arg347Pro)
c.1388G>C (p.Arg463Pro)
c.1352G>C (p.Arg451Pro)
c.532G>C
c.80G>C (p.Arg27Pro)
c.1442G>C (p.Arg481Pro)
c.1346G>C (p.Arg449Pro)
c.953G>C (p.Arg318Pro)
c.1349G>C (p.Arg450Pro)
c.380G>C (p.Arg127Pro)
20g.63414956C>TCA409646317KCNQ2c.1418G>A (p.Arg473Gln)
c.1472G>A (p.Arg491Gln)
c.869G>A (p.Arg290Gln)
c.1382G>A (p.Arg461Gln)
c.1040G>A (p.Arg347Gln)
c.1388G>A (p.Arg463Gln)
c.1352G>A (p.Arg451Gln)
c.532G>A
c.80G>A (p.Arg27Gln)
c.1442G>A (p.Arg481Gln)
c.1346G>A (p.Arg449Gln)
c.953G>A (p.Arg318Gln)
c.1349G>A (p.Arg450Gln)
c.380G>A (p.Arg127Gln)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
20g.63414957G>ACA409646319KCNQ2c.1417C>T (p.Arg473Trp)
c.1471C>T (p.Arg491Trp)
c.868C>T (p.Arg290Trp)
c.1381C>T (p.Arg461Trp)
c.1039C>T (p.Arg347Trp)
c.1387C>T (p.Arg463Trp)
c.1351C>T (p.Arg451Trp)
c.531C>T
c.79C>T (p.Arg27Trp)
c.1441C>T (p.Arg481Trp)
c.1345C>T (p.Arg449Trp)
c.952C>T (p.Arg318Trp)
c.1348C>T (p.Arg450Trp)
c.379C>T (p.Arg127Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63414957G>CCA409646324KCNQ2c.1417C>G (p.Arg473Gly)
c.1471C>G (p.Arg491Gly)
c.868C>G (p.Arg290Gly)
c.1381C>G (p.Arg461Gly)
c.1039C>G (p.Arg347Gly)
c.1387C>G (p.Arg463Gly)
c.1351C>G (p.Arg451Gly)
c.531C>G
c.79C>G (p.Arg27Gly)
c.1441C>G (p.Arg481Gly)
c.1345C>G (p.Arg449Gly)
c.952C>G (p.Arg318Gly)
c.1348C>G (p.Arg450Gly)
c.379C>G (p.Arg127Gly)
20g.63414957G=CA2374778786KCNQ2c.1417C= (p.Arg473=)
c.1471C= (p.Arg491=)
c.868C= (p.Arg290=)
c.1381C= (p.Arg461=)
c.1039C= (p.Arg347=)
c.1387C= (p.Arg463=)
c.1351C= (p.Arg451=)
c.531C=
c.79C= (p.Arg27=)
c.1441C= (p.Arg481=)
c.1345C= (p.Arg449=)
c.952C= (p.Arg318=)
c.1348C= (p.Arg450=)
c.379C= (p.Arg127=)
20g.63414957G>TCA511339684KCNQ2c.1417C>A (p.Arg473=)
c.1471C>A (p.Arg491=)
c.868C>A (p.Arg290=)
c.1381C>A (p.Arg461=)
c.1039C>A (p.Arg347=)
c.1387C>A (p.Arg463=)
c.1351C>A (p.Arg451=)
c.531C>A
c.79C>A (p.Arg27=)
c.1441C>A (p.Arg481=)
c.1345C>A (p.Arg449=)
c.952C>A (p.Arg318=)
c.1348C>A (p.Arg450=)
c.379C>A (p.Arg127=)
 dbSNP gnomAD v2
20g.63414958G>ACA511339685KCNQ2c.1416C>T (p.Ser472=)
c.1470C>T (p.Ser490=)
c.867C>T (p.Ser289=)
c.1380C>T (p.Ser460=)
c.1038C>T (p.Ser346=)
c.1386C>T (p.Ser462=)
c.1350C>T (p.Ser450=)
c.530C>T
c.78C>T (p.Ser26=)
c.1440C>T (p.Ser480=)
c.1344C>T (p.Ser448=)
c.951C>T (p.Ser317=)
c.1347C>T (p.Ser449=)
c.378C>T (p.Ser126=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63414958G>CCA409646326KCNQ2c.1416C>G (p.Ser472Arg)
c.1470C>G (p.Ser490Arg)
c.867C>G (p.Ser289Arg)
c.1380C>G (p.Ser460Arg)
c.1038C>G (p.Ser346Arg)
c.1386C>G (p.Ser462Arg)
c.1350C>G (p.Ser450Arg)
c.530C>G
c.78C>G (p.Ser26Arg)
c.1440C>G (p.Ser480Arg)
c.1344C>G (p.Ser448Arg)
c.951C>G (p.Ser317Arg)
c.1347C>G (p.Ser449Arg)
c.378C>G (p.Ser126Arg)
20g.63414958G=CA2374778787KCNQ2c.1416C= (p.Ser472=)
c.1470C= (p.Ser490=)
c.867C= (p.Ser289=)
c.1380C= (p.Ser460=)
c.1038C= (p.Ser346=)
c.1386C= (p.Ser462=)
c.1350C= (p.Ser450=)
c.530C=
c.78C= (p.Ser26=)
c.1440C= (p.Ser480=)
c.1344C= (p.Ser448=)
c.951C= (p.Ser317=)
c.1347C= (p.Ser449=)
c.378C= (p.Ser126=)
20g.63414958G>TCA409646328KCNQ2c.1416C>A (p.Ser472Arg)
c.1470C>A (p.Ser490Arg)
c.867C>A (p.Ser289Arg)
c.1380C>A (p.Ser460Arg)
c.1038C>A (p.Ser346Arg)
c.1386C>A (p.Ser462Arg)
c.1350C>A (p.Ser450Arg)
c.530C>A
c.78C>A (p.Ser26Arg)
c.1440C>A (p.Ser480Arg)
c.1344C>A (p.Ser448Arg)
c.951C>A (p.Ser317Arg)
c.1347C>A (p.Ser449Arg)
c.378C>A (p.Ser126Arg)
20g.63414959C>ACA409646330KCNQ2c.1415G>T (p.Ser472Ile)
c.1469G>T (p.Ser490Ile)
c.866G>T (p.Ser289Ile)
c.1379G>T (p.Ser460Ile)
c.1037G>T (p.Ser346Ile)
c.1385G>T (p.Ser462Ile)
c.1349G>T (p.Ser450Ile)
c.529G>T
c.77G>T (p.Ser26Ile)
c.1439G>T (p.Ser480Ile)
c.1343G>T (p.Ser448Ile)
c.950G>T (p.Ser317Ile)
c.1346G>T (p.Ser449Ile)
c.377G>T (p.Ser126Ile)
20g.63414959C>GCA409646333KCNQ2c.1415G>C (p.Ser472Thr)
c.1469G>C (p.Ser490Thr)
c.866G>C (p.Ser289Thr)
c.1379G>C (p.Ser460Thr)
c.1037G>C (p.Ser346Thr)
c.1385G>C (p.Ser462Thr)
c.1349G>C (p.Ser450Thr)
c.529G>C
c.77G>C (p.Ser26Thr)
c.1439G>C (p.Ser480Thr)
c.1343G>C (p.Ser448Thr)
c.950G>C (p.Ser317Thr)
c.1346G>C (p.Ser449Thr)
c.377G>C (p.Ser126Thr)
20g.63414959C>TCA409646332KCNQ2c.1415G>A (p.Ser472Asn)
c.1469G>A (p.Ser490Asn)
c.866G>A (p.Ser289Asn)
c.1379G>A (p.Ser460Asn)
c.1037G>A (p.Ser346Asn)
c.1385G>A (p.Ser462Asn)
c.1349G>A (p.Ser450Asn)
c.529G>A
c.77G>A (p.Ser26Asn)
c.1439G>A (p.Ser480Asn)
c.1343G>A (p.Ser448Asn)
c.950G>A (p.Ser317Asn)
c.1346G>A (p.Ser449Asn)
c.377G>A (p.Ser126Asn)
20g.63414960T>ACA409646336KCNQ2c.1414A>T (p.Ser472Cys)
c.1468A>T (p.Ser490Cys)
c.865A>T (p.Ser289Cys)
c.1378A>T (p.Ser460Cys)
c.1036A>T (p.Ser346Cys)
c.1384A>T (p.Ser462Cys)
c.1348A>T (p.Ser450Cys)
c.528A>T
c.76A>T (p.Ser26Cys)
c.1438A>T (p.Ser480Cys)
c.1342A>T (p.Ser448Cys)
c.949A>T (p.Ser317Cys)
c.1345A>T (p.Ser449Cys)
c.376A>T (p.Ser126Cys)
20g.63414960T>CCA409646337KCNQ2c.1414A>G (p.Ser472Gly)
c.1468A>G (p.Ser490Gly)
c.865A>G (p.Ser289Gly)
c.1378A>G (p.Ser460Gly)
c.1036A>G (p.Ser346Gly)
c.1384A>G (p.Ser462Gly)
c.1348A>G (p.Ser450Gly)
c.528A>G
c.76A>G (p.Ser26Gly)
c.1438A>G (p.Ser480Gly)
c.1342A>G (p.Ser448Gly)
c.949A>G (p.Ser317Gly)
c.1345A>G (p.Ser449Gly)
c.376A>G (p.Ser126Gly)
20g.63414960T>GCA409646340KCNQ2c.1414A>C (p.Ser472Arg)
c.1468A>C (p.Ser490Arg)
c.865A>C (p.Ser289Arg)
c.1378A>C (p.Ser460Arg)
c.1036A>C (p.Ser346Arg)
c.1384A>C (p.Ser462Arg)
c.1348A>C (p.Ser450Arg)
c.528A>C
c.76A>C (p.Ser26Arg)
c.1438A>C (p.Ser480Arg)
c.1342A>C (p.Ser448Arg)
c.949A>C (p.Ser317Arg)
c.1345A>C (p.Ser449Arg)
c.376A>C (p.Ser126Arg)
20g.63414961G>ACA9958454KCNQ2c.1413C>T (p.Arg471=)
c.1467C>T (p.Arg489=)
c.864C>T (p.Arg288=)
c.1377C>T (p.Arg459=)
c.1035C>T (p.Arg345=)
c.1383C>T (p.Arg461=)
c.1347C>T (p.Arg449=)
c.527C>T
c.75C>T (p.Arg25=)
c.1437C>T (p.Arg479=)
c.1341C>T (p.Arg447=)
c.948C>T (p.Arg316=)
c.1344C>T (p.Arg448=)
c.375C>T (p.Arg125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414961G>CCA511339686KCNQ2c.1413C>G (p.Arg471=)
c.1467C>G (p.Arg489=)
c.864C>G (p.Arg288=)
c.1377C>G (p.Arg459=)
c.1035C>G (p.Arg345=)
c.1383C>G (p.Arg461=)
c.1347C>G (p.Arg449=)
c.527C>G
c.75C>G (p.Arg25=)
c.1437C>G (p.Arg479=)
c.1341C>G (p.Arg447=)
c.948C>G (p.Arg316=)
c.1344C>G (p.Arg448=)
c.375C>G (p.Arg125=)
20g.63414961G=CA2374778788KCNQ2c.1413C= (p.Arg471=)
c.1467C= (p.Arg489=)
c.864C= (p.Arg288=)
c.1377C= (p.Arg459=)
c.1035C= (p.Arg345=)
c.1383C= (p.Arg461=)
c.1347C= (p.Arg449=)
c.527C=
c.75C= (p.Arg25=)
c.1437C= (p.Arg479=)
c.1341C= (p.Arg447=)
c.948C= (p.Arg316=)
c.1344C= (p.Arg448=)
c.375C= (p.Arg125=)
20g.63414961G>TCA511339687KCNQ2c.1413C>A (p.Arg471=)
c.1467C>A (p.Arg489=)
c.864C>A (p.Arg288=)
c.1377C>A (p.Arg459=)
c.1035C>A (p.Arg345=)
c.1383C>A (p.Arg461=)
c.1347C>A (p.Arg449=)
c.527C>A
c.75C>A (p.Arg25=)
c.1437C>A (p.Arg479=)
c.1341C>A (p.Arg447=)
c.948C>A (p.Arg316=)
c.1344C>A (p.Arg448=)
c.375C>A (p.Arg125=)
20g.63414962C>ACA409646345KCNQ2c.1412G>T (p.Arg471Leu)
c.1466G>T (p.Arg489Leu)
c.863G>T (p.Arg288Leu)
c.1376G>T (p.Arg459Leu)
c.1034G>T (p.Arg345Leu)
c.1382G>T (p.Arg461Leu)
c.1346G>T (p.Arg449Leu)
c.526G>T
c.74G>T (p.Arg25Leu)
c.1436G>T (p.Arg479Leu)
c.1340G>T (p.Arg447Leu)
c.947G>T (p.Arg316Leu)
c.1343G>T (p.Arg448Leu)
c.374G>T (p.Arg125Leu)
20g.63414962C=CA2374778789KCNQ2c.1412G= (p.Arg471=)
c.1466G= (p.Arg489=)
c.863G= (p.Arg288=)
c.1376G= (p.Arg459=)
c.1034G= (p.Arg345=)
c.1382G= (p.Arg461=)
c.1346G= (p.Arg449=)
c.526G=
c.74G= (p.Arg25=)
c.1436G= (p.Arg479=)
c.1340G= (p.Arg447=)
c.947G= (p.Arg316=)
c.1343G= (p.Arg448=)
c.374G= (p.Arg125=)
20g.63414962C>GCA409646348KCNQ2c.1412G>C (p.Arg471Pro)
c.1466G>C (p.Arg489Pro)
c.863G>C (p.Arg288Pro)
c.1376G>C (p.Arg459Pro)
c.1034G>C (p.Arg345Pro)
c.1382G>C (p.Arg461Pro)
c.1346G>C (p.Arg449Pro)
c.526G>C
c.74G>C (p.Arg25Pro)
c.1436G>C (p.Arg479Pro)
c.1340G>C (p.Arg447Pro)
c.947G>C (p.Arg316Pro)
c.1343G>C (p.Arg448Pro)
c.374G>C (p.Arg125Pro)
20g.63414962C>TCA317430991KCNQ2c.1412G>A (p.Arg471His)
c.1466G>A (p.Arg489His)
c.863G>A (p.Arg288His)
c.1376G>A (p.Arg459His)
c.1034G>A (p.Arg345His)
c.1382G>A (p.Arg461His)
c.1346G>A (p.Arg449His)
c.526G>A
c.74G>A (p.Arg25His)
c.1436G>A (p.Arg479His)
c.1340G>A (p.Arg447His)
c.947G>A (p.Arg316His)
c.1343G>A (p.Arg448His)
c.374G>A (p.Arg125His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63414963G>ACA9958456KCNQ2c.1411C>T (p.Arg471Cys)
c.1465C>T (p.Arg489Cys)
c.862C>T (p.Arg288Cys)
c.1375C>T (p.Arg459Cys)
c.1033C>T (p.Arg345Cys)
c.1381C>T (p.Arg461Cys)
c.1345C>T (p.Arg449Cys)
c.525C>T
c.73C>T (p.Arg25Cys)
c.1435C>T (p.Arg479Cys)
c.1339C>T (p.Arg447Cys)
c.946C>T (p.Arg316Cys)
c.1342C>T (p.Arg448Cys)
c.373C>T (p.Arg125Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414963G>CCA9958455KCNQ2c.1411C>G (p.Arg471Gly)
c.1465C>G (p.Arg489Gly)
c.862C>G (p.Arg288Gly)
c.1375C>G (p.Arg459Gly)
c.1033C>G (p.Arg345Gly)
c.1381C>G (p.Arg461Gly)
c.1345C>G (p.Arg449Gly)
c.525C>G
c.73C>G (p.Arg25Gly)
c.1435C>G (p.Arg479Gly)
c.1339C>G (p.Arg447Gly)
c.946C>G (p.Arg316Gly)
c.1342C>G (p.Arg448Gly)
c.373C>G (p.Arg125Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414963G=CA2374778790KCNQ2c.1411C= (p.Arg471=)
c.1465C= (p.Arg489=)
c.862C= (p.Arg288=)
c.1375C= (p.Arg459=)
c.1033C= (p.Arg345=)
c.1381C= (p.Arg461=)
c.1345C= (p.Arg449=)
c.525C=
c.73C= (p.Arg25=)
c.1435C= (p.Arg479=)
c.1339C= (p.Arg447=)
c.946C= (p.Arg316=)
c.1342C= (p.Arg448=)
c.373C= (p.Arg125=)
20g.63414963G>TCA409646349KCNQ2c.1411C>A (p.Arg471Ser)
c.1465C>A (p.Arg489Ser)
c.862C>A (p.Arg288Ser)
c.1375C>A (p.Arg459Ser)
c.1033C>A (p.Arg345Ser)
c.1381C>A (p.Arg461Ser)
c.1345C>A (p.Arg449Ser)
c.525C>A
c.73C>A (p.Arg25Ser)
c.1435C>A (p.Arg479Ser)
c.1339C>A (p.Arg447Ser)
c.946C>A (p.Arg316Ser)
c.1342C>A (p.Arg448Ser)
c.373C>A (p.Arg125Ser)
20g.63414964G>ACA511339688KCNQ2c.1410C>T (p.Asp470=)
c.1464C>T (p.Asp488=)
c.861C>T (p.Asp287=)
c.1374C>T (p.Asp458=)
c.1032C>T (p.Asp344=)
c.1380C>T (p.Asp460=)
c.1344C>T (p.Asp448=)
c.524C>T
c.72C>T (p.Asp24=)
c.1434C>T (p.Asp478=)
c.1338C>T (p.Asp446=)
c.945C>T (p.Asp315=)
c.1341C>T (p.Asp447=)
c.372C>T (p.Asp124=)
 dbSNP gnomAD v3 gnomAD v4
20g.63414964G>CCA409646352KCNQ2c.1410C>G (p.Asp470Glu)
c.1464C>G (p.Asp488Glu)
c.861C>G (p.Asp287Glu)
c.1374C>G (p.Asp458Glu)
c.1032C>G (p.Asp344Glu)
c.1380C>G (p.Asp460Glu)
c.1344C>G (p.Asp448Glu)
c.524C>G
c.72C>G (p.Asp24Glu)
c.1434C>G (p.Asp478Glu)
c.1338C>G (p.Asp446Glu)
c.945C>G (p.Asp315Glu)
c.1341C>G (p.Asp447Glu)
c.372C>G (p.Asp124Glu)
 ClinVar gnomAD v4
20g.63414964G=CA2374778791KCNQ2c.1410C= (p.Asp470=)
c.1464C= (p.Asp488=)
c.861C= (p.Asp287=)
c.1374C= (p.Asp458=)
c.1032C= (p.Asp344=)
c.1380C= (p.Asp460=)
c.1344C= (p.Asp448=)
c.524C=
c.72C= (p.Asp24=)
c.1434C= (p.Asp478=)
c.1338C= (p.Asp446=)
c.945C= (p.Asp315=)
c.1341C= (p.Asp447=)
c.372C= (p.Asp124=)
20g.63414964G>TCA409646353KCNQ2c.1410C>A (p.Asp470Glu)
c.1464C>A (p.Asp488Glu)
c.861C>A (p.Asp287Glu)
c.1374C>A (p.Asp458Glu)
c.1032C>A (p.Asp344Glu)
c.1380C>A (p.Asp460Glu)
c.1344C>A (p.Asp448Glu)
c.524C>A
c.72C>A (p.Asp24Glu)
c.1434C>A (p.Asp478Glu)
c.1338C>A (p.Asp446Glu)
c.945C>A (p.Asp315Glu)
c.1341C>A (p.Asp447Glu)
c.372C>A (p.Asp124Glu)
 gnomAD v4
20g.63414965T>ACA409646355KCNQ2c.1409A>T (p.Asp470Val)
c.1463A>T (p.Asp488Val)
c.860A>T (p.Asp287Val)
c.1373A>T (p.Asp458Val)
c.1031A>T (p.Asp344Val)
c.1379A>T (p.Asp460Val)
c.1343A>T (p.Asp448Val)
c.523A>T
c.71A>T (p.Asp24Val)
c.1433A>T (p.Asp478Val)
c.1337A>T (p.Asp446Val)
c.944A>T (p.Asp315Val)
c.1340A>T (p.Asp447Val)
c.371A>T (p.Asp124Val)
20g.63414965T>CCA409646358KCNQ2c.1409A>G (p.Asp470Gly)
c.1463A>G (p.Asp488Gly)
c.860A>G (p.Asp287Gly)
c.1373A>G (p.Asp458Gly)
c.1031A>G (p.Asp344Gly)
c.1379A>G (p.Asp460Gly)
c.1343A>G (p.Asp448Gly)
c.523A>G
c.71A>G (p.Asp24Gly)
c.1433A>G (p.Asp478Gly)
c.1337A>G (p.Asp446Gly)
c.944A>G (p.Asp315Gly)
c.1340A>G (p.Asp447Gly)
c.371A>G (p.Asp124Gly)
20g.63414965T>GCA409646361KCNQ2c.1409A>C (p.Asp470Ala)
c.1463A>C (p.Asp488Ala)
c.860A>C (p.Asp287Ala)
c.1373A>C (p.Asp458Ala)
c.1031A>C (p.Asp344Ala)
c.1379A>C (p.Asp460Ala)
c.1343A>C (p.Asp448Ala)
c.523A>C
c.71A>C (p.Asp24Ala)
c.1433A>C (p.Asp478Ala)
c.1337A>C (p.Asp446Ala)
c.944A>C (p.Asp315Ala)
c.1340A>C (p.Asp447Ala)
c.371A>C (p.Asp124Ala)
20g.63414966C>ACA409646366KCNQ2c.1408G>T (p.Asp470Tyr)
c.1462G>T (p.Asp488Tyr)
c.859G>T (p.Asp287Tyr)
c.1372G>T (p.Asp458Tyr)
c.1030G>T (p.Asp344Tyr)
c.1378G>T (p.Asp460Tyr)
c.1342G>T (p.Asp448Tyr)
c.522G>T
c.70G>T (p.Asp24Tyr)
c.1432G>T (p.Asp478Tyr)
c.1336G>T (p.Asp446Tyr)
c.943G>T (p.Asp315Tyr)
c.1339G>T (p.Asp447Tyr)
c.370G>T (p.Asp124Tyr)
20g.63414966C>GCA409646367KCNQ2c.1408G>C (p.Asp470His)
c.1462G>C (p.Asp488His)
c.859G>C (p.Asp287His)
c.1372G>C (p.Asp458His)
c.1030G>C (p.Asp344His)
c.1378G>C (p.Asp460His)
c.1342G>C (p.Asp448His)
c.522G>C
c.70G>C (p.Asp24His)
c.1432G>C (p.Asp478His)
c.1336G>C (p.Asp446His)
c.943G>C (p.Asp315His)
c.1339G>C (p.Asp447His)
c.370G>C (p.Asp124His)
20g.63414966C>TCA409646368KCNQ2c.1408G>A (p.Asp470Asn)
c.1462G>A (p.Asp488Asn)
c.859G>A (p.Asp287Asn)
c.1372G>A (p.Asp458Asn)
c.1030G>A (p.Asp344Asn)
c.1378G>A (p.Asp460Asn)
c.1342G>A (p.Asp448Asn)
c.522G>A
c.70G>A (p.Asp24Asn)
c.1432G>A (p.Asp478Asn)
c.1336G>A (p.Asp446Asn)
c.943G>A (p.Asp315Asn)
c.1339G>A (p.Asp447Asn)
c.370G>A (p.Asp124Asn)
20g.63414969delCA2737060607KCNQ2c.1408del (p.Asp470ThrfsTer?)
c.1462del (p.Asp488ThrfsTer?)
c.859del (p.Asp287ThrfsTer?)
c.1372del (p.Asp458ThrfsTer?)
c.1030del (p.Asp344ThrfsTer?)
c.1378del (p.Asp460ThrfsTer?)
c.1342del (p.Asp448ThrfsTer?)
c.522del
c.70del (p.Asp24ThrfsTer?)
c.1432del (p.Asp478ThrfsTer?)
c.1336del (p.Asp446ThrfsTer?)
c.943del (p.Asp315ThrfsTer?)
c.1339del (p.Asp447ThrfsTer?)
c.370del (p.Asp124ThrfsTer?)
 dbSNP
20g.63414967C>ACA511339693KCNQ2c.1407G>T (p.Gly469=)
c.1461G>T (p.Gly487=)
c.858G>T (p.Gly286=)
c.1371G>T (p.Gly457=)
c.1029G>T (p.Gly343=)
c.1377G>T (p.Gly459=)
c.1341G>T (p.Gly447=)
c.521G>T
c.69G>T (p.Gly23=)
c.1431G>T (p.Gly477=)
c.1335G>T (p.Gly445=)
c.942G>T (p.Gly314=)
c.1338G>T (p.Gly446=)
c.369G>T (p.Gly123=)
20g.63414967C>GCA511339691KCNQ2c.1407G>C (p.Gly469=)
c.1461G>C (p.Gly487=)
c.858G>C (p.Gly286=)
c.1371G>C (p.Gly457=)
c.1029G>C (p.Gly343=)
c.1377G>C (p.Gly459=)
c.1341G>C (p.Gly447=)
c.521G>C
c.69G>C (p.Gly23=)
c.1431G>C (p.Gly477=)
c.1335G>C (p.Gly445=)
c.942G>C (p.Gly314=)
c.1338G>C (p.Gly446=)
c.369G>C (p.Gly123=)
20g.63414967C>TCA511339689KCNQ2c.1407G>A (p.Gly469=)
c.1461G>A (p.Gly487=)
c.858G>A (p.Gly286=)
c.1371G>A (p.Gly457=)
c.1029G>A (p.Gly343=)
c.1377G>A (p.Gly459=)
c.1341G>A (p.Gly447=)
c.521G>A
c.69G>A (p.Gly23=)
c.1431G>A (p.Gly477=)
c.1335G>A (p.Gly445=)
c.942G>A (p.Gly314=)
c.1338G>A (p.Gly446=)
c.369G>A (p.Gly123=)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63414968C>ACA409646375KCNQ2c.1406G>T (p.Gly469Val)
c.1460G>T (p.Gly487Val)
c.857G>T (p.Gly286Val)
c.1370G>T (p.Gly457Val)
c.1028G>T (p.Gly343Val)
c.1376G>T (p.Gly459Val)
c.1340G>T (p.Gly447Val)
c.520G>T
c.68G>T (p.Gly23Val)
c.1430G>T (p.Gly477Val)
c.1334G>T (p.Gly445Val)
c.941G>T (p.Gly314Val)
c.1337G>T (p.Gly446Val)
c.368G>T (p.Gly123Val)
 COSMIC COSMIC COSMIC
20g.63414968C>GCA409646373KCNQ2c.1406G>C (p.Gly469Ala)
c.1460G>C (p.Gly487Ala)
c.857G>C (p.Gly286Ala)
c.1370G>C (p.Gly457Ala)
c.1028G>C (p.Gly343Ala)
c.1376G>C (p.Gly459Ala)
c.1340G>C (p.Gly447Ala)
c.520G>C
c.68G>C (p.Gly23Ala)
c.1430G>C (p.Gly477Ala)
c.1334G>C (p.Gly445Ala)
c.941G>C (p.Gly314Ala)
c.1337G>C (p.Gly446Ala)
c.368G>C (p.Gly123Ala)
20g.63414968C>TCA409646370KCNQ2c.1406G>A (p.Gly469Glu)
c.1460G>A (p.Gly487Glu)
c.857G>A (p.Gly286Glu)
c.1370G>A (p.Gly457Glu)
c.1028G>A (p.Gly343Glu)
c.1376G>A (p.Gly459Glu)
c.1340G>A (p.Gly447Glu)
c.520G>A
c.68G>A (p.Gly23Glu)
c.1430G>A (p.Gly477Glu)
c.1334G>A (p.Gly445Glu)
c.941G>A (p.Gly314Glu)
c.1337G>A (p.Gly446Glu)
c.368G>A (p.Gly123Glu)
20g.63414969C>ACA409646377KCNQ2c.1405G>T (p.Gly469Trp)
c.1459G>T (p.Gly487Trp)
c.856G>T (p.Gly286Trp)
c.1369G>T (p.Gly457Trp)
c.1027G>T (p.Gly343Trp)
c.1375G>T (p.Gly459Trp)
c.1339G>T (p.Gly447Trp)
c.519G>T
c.67G>T (p.Gly23Trp)
c.1429G>T (p.Gly477Trp)
c.1333G>T (p.Gly445Trp)
c.940G>T (p.Gly314Trp)
c.1336G>T (p.Gly446Trp)
c.367G>T (p.Gly123Trp)
20g.63414969C=CA2374778792KCNQ2c.1405G= (p.Gly469=)
c.1459G= (p.Gly487=)
c.856G= (p.Gly286=)
c.1369G= (p.Gly457=)
c.1027G= (p.Gly343=)
c.1375G= (p.Gly459=)
c.1339G= (p.Gly447=)
c.519G=
c.67G= (p.Gly23=)
c.1429G= (p.Gly477=)
c.1333G= (p.Gly445=)
c.940G= (p.Gly314=)
c.1336G= (p.Gly446=)
c.367G= (p.Gly123=)
20g.63414969C>GCA409646382KCNQ2c.1405G>C (p.Gly469Arg)
c.1459G>C (p.Gly487Arg)
c.856G>C (p.Gly286Arg)
c.1369G>C (p.Gly457Arg)
c.1027G>C (p.Gly343Arg)
c.1375G>C (p.Gly459Arg)
c.1339G>C (p.Gly447Arg)
c.519G>C
c.67G>C (p.Gly23Arg)
c.1429G>C (p.Gly477Arg)
c.1333G>C (p.Gly445Arg)
c.940G>C (p.Gly314Arg)
c.1336G>C (p.Gly446Arg)
c.367G>C (p.Gly123Arg)
 ClinVar dbSNP gnomAD v4
20g.63414969C>TCA9958457KCNQ2c.1405G>A (p.Gly469Arg)
c.1459G>A (p.Gly487Arg)
c.856G>A (p.Gly286Arg)
c.1369G>A (p.Gly457Arg)
c.1027G>A (p.Gly343Arg)
c.1375G>A (p.Gly459Arg)
c.1339G>A (p.Gly447Arg)
c.519G>A
c.67G>A (p.Gly23Arg)
c.1429G>A (p.Gly477Arg)
c.1333G>A (p.Gly445Arg)
c.940G>A (p.Gly314Arg)
c.1336G>A (p.Gly446Arg)
c.367G>A (p.Gly123Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63414970G>ACA291797KCNQ2c.1404C>T (p.Phe468=)
c.1458C>T (p.Phe486=)
c.855C>T (p.Phe285=)
c.1368C>T (p.Phe456=)
c.1026C>T (p.Phe342=)
c.1374C>T (p.Phe458=)
c.1338C>T (p.Phe446=)
c.518C>T
c.66C>T (p.Phe22=)
c.1428C>T (p.Phe476=)
c.1332C>T (p.Phe444=)
c.939C>T (p.Phe313=)
c.1335C>T (p.Phe445=)
c.366C>T (p.Phe122=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414970G>CCA409646388KCNQ2c.1404C>G (p.Phe468Leu)
c.1458C>G (p.Phe486Leu)
c.855C>G (p.Phe285Leu)
c.1368C>G (p.Phe456Leu)
c.1026C>G (p.Phe342Leu)
c.1374C>G (p.Phe458Leu)
c.1338C>G (p.Phe446Leu)
c.518C>G
c.66C>G (p.Phe22Leu)
c.1428C>G (p.Phe476Leu)
c.1332C>G (p.Phe444Leu)
c.939C>G (p.Phe313Leu)
c.1335C>G (p.Phe445Leu)
c.366C>G (p.Phe122Leu)
20g.63414970G=CA2374778793KCNQ2c.1404C= (p.Phe468=)
c.1458C= (p.Phe486=)
c.855C= (p.Phe285=)
c.1368C= (p.Phe456=)
c.1026C= (p.Phe342=)
c.1374C= (p.Phe458=)
c.1338C= (p.Phe446=)
c.518C=
c.66C= (p.Phe22=)
c.1428C= (p.Phe476=)
c.1332C= (p.Phe444=)
c.939C= (p.Phe313=)
c.1335C= (p.Phe445=)
c.366C= (p.Phe122=)
20g.63414970G>TCA409646385KCNQ2c.1404C>A (p.Phe468Leu)
c.1458C>A (p.Phe486Leu)
c.855C>A (p.Phe285Leu)
c.1368C>A (p.Phe456Leu)
c.1026C>A (p.Phe342Leu)
c.1374C>A (p.Phe458Leu)
c.1338C>A (p.Phe446Leu)
c.518C>A
c.66C>A (p.Phe22Leu)
c.1428C>A (p.Phe476Leu)
c.1332C>A (p.Phe444Leu)
c.939C>A (p.Phe313Leu)
c.1335C>A (p.Phe445Leu)
c.366C>A (p.Phe122Leu)
20g.63414971A>CCA409646392KCNQ2c.1403T>G (p.Phe468Cys)
c.1457T>G (p.Phe486Cys)
c.854T>G (p.Phe285Cys)
c.1367T>G (p.Phe456Cys)
c.1025T>G (p.Phe342Cys)
c.1373T>G (p.Phe458Cys)
c.1337T>G (p.Phe446Cys)
c.517T>G
c.65T>G (p.Phe22Cys)
c.1427T>G (p.Phe476Cys)
c.1331T>G (p.Phe444Cys)
c.938T>G (p.Phe313Cys)
c.1334T>G (p.Phe445Cys)
c.365T>G (p.Phe122Cys)
20g.63414971A>GCA409646395KCNQ2c.1403T>C (p.Phe468Ser)
c.1457T>C (p.Phe486Ser)
c.854T>C (p.Phe285Ser)
c.1367T>C (p.Phe456Ser)
c.1025T>C (p.Phe342Ser)
c.1373T>C (p.Phe458Ser)
c.1337T>C (p.Phe446Ser)
c.517T>C
c.65T>C (p.Phe22Ser)
c.1427T>C (p.Phe476Ser)
c.1331T>C (p.Phe444Ser)
c.938T>C (p.Phe313Ser)
c.1334T>C (p.Phe445Ser)
c.365T>C (p.Phe122Ser)
20g.63414971A>TCA409646397KCNQ2c.1403T>A (p.Phe468Tyr)
c.1457T>A (p.Phe486Tyr)
c.854T>A (p.Phe285Tyr)
c.1367T>A (p.Phe456Tyr)
c.1025T>A (p.Phe342Tyr)
c.1373T>A (p.Phe458Tyr)
c.1337T>A (p.Phe446Tyr)
c.517T>A
c.65T>A (p.Phe22Tyr)
c.1427T>A (p.Phe476Tyr)
c.1331T>A (p.Phe444Tyr)
c.938T>A (p.Phe313Tyr)
c.1334T>A (p.Phe445Tyr)
c.365T>A (p.Phe122Tyr)
20g.63414972A>CCA409646401KCNQ2c.1402T>G (p.Phe468Val)
c.1456T>G (p.Phe486Val)
c.853T>G (p.Phe285Val)
c.1366T>G (p.Phe456Val)
c.1024T>G (p.Phe342Val)
c.1372T>G (p.Phe458Val)
c.1336T>G (p.Phe446Val)
c.516T>G
c.64T>G (p.Phe22Val)
c.1426T>G (p.Phe476Val)
c.1330T>G (p.Phe444Val)
c.937T>G (p.Phe313Val)
c.1333T>G (p.Phe445Val)
c.364T>G (p.Phe122Val)
20g.63414972A>GCA409646403KCNQ2c.1402T>C (p.Phe468Leu)
c.1456T>C (p.Phe486Leu)
c.853T>C (p.Phe285Leu)
c.1366T>C (p.Phe456Leu)
c.1024T>C (p.Phe342Leu)
c.1372T>C (p.Phe458Leu)
c.1336T>C (p.Phe446Leu)
c.516T>C
c.64T>C (p.Phe22Leu)
c.1426T>C (p.Phe476Leu)
c.1330T>C (p.Phe444Leu)
c.937T>C (p.Phe313Leu)
c.1333T>C (p.Phe445Leu)
c.364T>C (p.Phe122Leu)
20g.63414972A>TCA409646404KCNQ2c.1402T>A (p.Phe468Ile)
c.1456T>A (p.Phe486Ile)
c.853T>A (p.Phe285Ile)
c.1366T>A (p.Phe456Ile)
c.1024T>A (p.Phe342Ile)
c.1372T>A (p.Phe458Ile)
c.1336T>A (p.Phe446Ile)
c.516T>A
c.64T>A (p.Phe22Ile)
c.1426T>A (p.Phe476Ile)
c.1330T>A (p.Phe444Ile)
c.937T>A (p.Phe313Ile)
c.1333T>A (p.Phe445Ile)
c.364T>A (p.Phe122Ile)
20g.63414973G>ACA511339696KCNQ2c.1401C>T (p.Ser467=)
c.1455C>T (p.Ser485=)
c.852C>T (p.Ser284=)
c.1365C>T (p.Ser455=)
c.1023C>T (p.Ser341=)
c.1371C>T (p.Ser457=)
c.1335C>T (p.Ser445=)
c.515C>T
c.63C>T (p.Ser21=)
c.1425C>T (p.Ser475=)
c.1329C>T (p.Ser443=)
c.936C>T (p.Ser312=)
c.1332C>T (p.Ser444=)
c.363C>T (p.Ser121=)
20g.63414973G>CCA409646410KCNQ2c.1401C>G (p.Ser467Arg)
c.1455C>G (p.Ser485Arg)
c.852C>G (p.Ser284Arg)
c.1365C>G (p.Ser455Arg)
c.1023C>G (p.Ser341Arg)
c.1371C>G (p.Ser457Arg)
c.1335C>G (p.Ser445Arg)
c.515C>G
c.63C>G (p.Ser21Arg)
c.1425C>G (p.Ser475Arg)
c.1329C>G (p.Ser443Arg)
c.936C>G (p.Ser312Arg)
c.1332C>G (p.Ser444Arg)
c.363C>G (p.Ser121Arg)
20g.63414973G>TCA409646408KCNQ2c.1401C>A (p.Ser467Arg)
c.1455C>A (p.Ser485Arg)
c.852C>A (p.Ser284Arg)
c.1365C>A (p.Ser455Arg)
c.1023C>A (p.Ser341Arg)
c.1371C>A (p.Ser457Arg)
c.1335C>A (p.Ser445Arg)
c.515C>A
c.63C>A (p.Ser21Arg)
c.1425C>A (p.Ser475Arg)
c.1329C>A (p.Ser443Arg)
c.936C>A (p.Ser312Arg)
c.1332C>A (p.Ser444Arg)
c.363C>A (p.Ser121Arg)
20g.63414974C>ACA409646412KCNQ2c.1400G>T (p.Ser467Ile)
c.1454G>T (p.Ser485Ile)
c.851G>T (p.Ser284Ile)
c.1364G>T (p.Ser455Ile)
c.1022G>T (p.Ser341Ile)
c.1370G>T (p.Ser457Ile)
c.1334G>T (p.Ser445Ile)
c.514G>T
c.62G>T (p.Ser21Ile)
c.1424G>T (p.Ser475Ile)
c.1328G>T (p.Ser443Ile)
c.935G>T (p.Ser312Ile)
c.1331G>T (p.Ser444Ile)
c.362G>T (p.Ser121Ile)
20g.63414974C>GCA409646415KCNQ2c.1400G>C (p.Ser467Thr)
c.1454G>C (p.Ser485Thr)
c.851G>C (p.Ser284Thr)
c.1364G>C (p.Ser455Thr)
c.1022G>C (p.Ser341Thr)
c.1370G>C (p.Ser457Thr)
c.1334G>C (p.Ser445Thr)
c.514G>C
c.62G>C (p.Ser21Thr)
c.1424G>C (p.Ser475Thr)
c.1328G>C (p.Ser443Thr)
c.935G>C (p.Ser312Thr)
c.1331G>C (p.Ser444Thr)
c.362G>C (p.Ser121Thr)
20g.63414974C>TCA409646418KCNQ2c.1400G>A (p.Ser467Asn)
c.1454G>A (p.Ser485Asn)
c.851G>A (p.Ser284Asn)
c.1364G>A (p.Ser455Asn)
c.1022G>A (p.Ser341Asn)
c.1370G>A (p.Ser457Asn)
c.1334G>A (p.Ser445Asn)
c.514G>A
c.62G>A (p.Ser21Asn)
c.1424G>A (p.Ser475Asn)
c.1328G>A (p.Ser443Asn)
c.935G>A (p.Ser312Asn)
c.1331G>A (p.Ser444Asn)
c.362G>A (p.Ser121Asn)
20g.63414975T>ACA409646420KCNQ2c.1399A>T (p.Ser467Cys)
c.1453A>T (p.Ser485Cys)
c.850A>T (p.Ser284Cys)
c.1363A>T (p.Ser455Cys)
c.1021A>T (p.Ser341Cys)
c.1369A>T (p.Ser457Cys)
c.1333A>T (p.Ser445Cys)
c.513A>T
c.61A>T (p.Ser21Cys)
c.1423A>T (p.Ser475Cys)
c.1327A>T (p.Ser443Cys)
c.934A>T (p.Ser312Cys)
c.1330A>T (p.Ser444Cys)
c.361A>T (p.Ser121Cys)
20g.63414975T>CCA409646422KCNQ2c.1399A>G (p.Ser467Gly)
c.1453A>G (p.Ser485Gly)
c.850A>G (p.Ser284Gly)
c.1363A>G (p.Ser455Gly)
c.1021A>G (p.Ser341Gly)
c.1369A>G (p.Ser457Gly)
c.1333A>G (p.Ser445Gly)
c.513A>G
c.61A>G (p.Ser21Gly)
c.1423A>G (p.Ser475Gly)
c.1327A>G (p.Ser443Gly)
c.934A>G (p.Ser312Gly)
c.1330A>G (p.Ser444Gly)
c.361A>G (p.Ser121Gly)
20g.63414975T>GCA409646426KCNQ2c.1399A>C (p.Ser467Arg)
c.1453A>C (p.Ser485Arg)
c.850A>C (p.Ser284Arg)
c.1363A>C (p.Ser455Arg)
c.1021A>C (p.Ser341Arg)
c.1369A>C (p.Ser457Arg)
c.1333A>C (p.Ser445Arg)
c.513A>C
c.61A>C (p.Ser21Arg)
c.1423A>C (p.Ser475Arg)
c.1327A>C (p.Ser443Arg)
c.934A>C (p.Ser312Arg)
c.1330A>C (p.Ser444Arg)
c.361A>C (p.Ser121Arg)
20g.63414975T=CA2374778794KCNQ2c.1399A= (p.Ser467=)
c.1453A= (p.Ser485=)
c.850A= (p.Ser284=)
c.1363A= (p.Ser455=)
c.1021A= (p.Ser341=)
c.1369A= (p.Ser457=)
c.1333A= (p.Ser445=)
c.513A=
c.61A= (p.Ser21=)
c.1423A= (p.Ser475=)
c.1327A= (p.Ser443=)
c.934A= (p.Ser312=)
c.1330A= (p.Ser444=)
c.361A= (p.Ser121=)
20g.63414976C>ACA409646429KCNQ2c.1398G>T (p.Trp466Cys)
c.1452G>T (p.Trp484Cys)
c.849G>T (p.Trp283Cys)
c.1362G>T (p.Trp454Cys)
c.1020G>T (p.Trp340Cys)
c.1368G>T (p.Trp456Cys)
c.1332G>T (p.Trp444Cys)
c.512G>T
c.60G>T (p.Trp20Cys)
c.1422G>T (p.Trp474Cys)
c.1326G>T (p.Trp442Cys)
c.933G>T (p.Trp311Cys)
c.1329G>T (p.Trp443Cys)
c.360G>T (p.Trp120Cys)
20g.63414976C=CA2374778795KCNQ2c.1398G= (p.Trp466=)
c.1452G= (p.Trp484=)
c.849G= (p.Trp283=)
c.1362G= (p.Trp454=)
c.1020G= (p.Trp340=)
c.1368G= (p.Trp456=)
c.1332G= (p.Trp444=)
c.512G=
c.60G= (p.Trp20=)
c.1422G= (p.Trp474=)
c.1326G= (p.Trp442=)
c.933G= (p.Trp311=)
c.1329G= (p.Trp443=)
c.360G= (p.Trp120=)
20g.63414976C>GCA409646434KCNQ2c.1398G>C (p.Trp466Cys)
c.1452G>C (p.Trp484Cys)
c.849G>C (p.Trp283Cys)
c.1362G>C (p.Trp454Cys)
c.1020G>C (p.Trp340Cys)
c.1368G>C (p.Trp456Cys)
c.1332G>C (p.Trp444Cys)
c.512G>C
c.60G>C (p.Trp20Cys)
c.1422G>C (p.Trp474Cys)
c.1326G>C (p.Trp442Cys)
c.933G>C (p.Trp311Cys)
c.1329G>C (p.Trp443Cys)
c.360G>C (p.Trp120Cys)
20g.63414976C>TCA409646431KCNQ2c.1398G>A (p.Trp466Ter)
c.1452G>A (p.Trp484Ter)
c.849G>A (p.Trp283Ter)
c.1362G>A (p.Trp454Ter)
c.1020G>A (p.Trp340Ter)
c.1368G>A (p.Trp456Ter)
c.1332G>A (p.Trp444Ter)
c.512G>A
c.60G>A (p.Trp20Ter)
c.1422G>A (p.Trp474Ter)
c.1326G>A (p.Trp442Ter)
c.933G>A (p.Trp311Ter)
c.1329G>A (p.Trp443Ter)
c.360G>A (p.Trp120Ter)
 ClinVar dbSNP
20g.63414977dupCA1139666779KCNQ2c.1398dup (p.Ser467GlufsTer?)
c.1452dup (p.Ser485GlufsTer?)
c.849dup (p.Ser284GlufsTer?)
c.1362dup (p.Ser455GlufsTer?)
c.1020dup (p.Ser341GlufsTer?)
c.1368dup (p.Ser457GlufsTer?)
c.1332dup (p.Ser445GlufsTer?)
c.512dup
c.60dup (p.Ser21GlufsTer?)
c.1422dup (p.Ser475GlufsTer?)
c.1326dup (p.Ser443GlufsTer?)
c.933dup (p.Ser312GlufsTer?)
c.1329dup (p.Ser444GlufsTer?)
c.360dup (p.Ser121GlufsTer?)
 ClinVar dbSNP
20g.63414977C>ACA409646438KCNQ2c.1397G>T (p.Trp466Leu)
c.1451G>T (p.Trp484Leu)
c.848G>T (p.Trp283Leu)
c.1361G>T (p.Trp454Leu)
c.1019G>T (p.Trp340Leu)
c.1367G>T (p.Trp456Leu)
c.1331G>T (p.Trp444Leu)
c.511G>T
c.59G>T (p.Trp20Leu)
c.1421G>T (p.Trp474Leu)
c.1325G>T (p.Trp442Leu)
c.932G>T (p.Trp311Leu)
c.1328G>T (p.Trp443Leu)
c.359G>T (p.Trp120Leu)
20g.63414977C>GCA409646440KCNQ2c.1397G>C (p.Trp466Ser)
c.1451G>C (p.Trp484Ser)
c.848G>C (p.Trp283Ser)
c.1361G>C (p.Trp454Ser)
c.1019G>C (p.Trp340Ser)
c.1367G>C (p.Trp456Ser)
c.1331G>C (p.Trp444Ser)
c.511G>C
c.59G>C (p.Trp20Ser)
c.1421G>C (p.Trp474Ser)
c.1325G>C (p.Trp442Ser)
c.932G>C (p.Trp311Ser)
c.1328G>C (p.Trp443Ser)
c.359G>C (p.Trp120Ser)
20g.63414977C>TCA409646442KCNQ2c.1397G>A (p.Trp466Ter)
c.1451G>A (p.Trp484Ter)
c.848G>A (p.Trp283Ter)
c.1361G>A (p.Trp454Ter)
c.1019G>A (p.Trp340Ter)
c.1367G>A (p.Trp456Ter)
c.1331G>A (p.Trp444Ter)
c.511G>A
c.59G>A (p.Trp20Ter)
c.1421G>A (p.Trp474Ter)
c.1325G>A (p.Trp442Ter)
c.932G>A (p.Trp311Ter)
c.1328G>A (p.Trp443Ter)
c.359G>A (p.Trp120Ter)
20g.63414978A>CCA409646444KCNQ2c.1396T>G (p.Trp466Gly)
c.1450T>G (p.Trp484Gly)
c.847T>G (p.Trp283Gly)
c.1360T>G (p.Trp454Gly)
c.1018T>G (p.Trp340Gly)
c.1366T>G (p.Trp456Gly)
c.1330T>G (p.Trp444Gly)
c.510T>G
c.58T>G (p.Trp20Gly)
c.1420T>G (p.Trp474Gly)
c.1324T>G (p.Trp442Gly)
c.931T>G (p.Trp311Gly)
c.1327T>G (p.Trp443Gly)
c.358T>G (p.Trp120Gly)
20g.63414978A>GCA409646447KCNQ2c.1396T>C (p.Trp466Arg)
c.1450T>C (p.Trp484Arg)
c.847T>C (p.Trp283Arg)
c.1360T>C (p.Trp454Arg)
c.1018T>C (p.Trp340Arg)
c.1366T>C (p.Trp456Arg)
c.1330T>C (p.Trp444Arg)
c.510T>C
c.58T>C (p.Trp20Arg)
c.1420T>C (p.Trp474Arg)
c.1324T>C (p.Trp442Arg)
c.931T>C (p.Trp311Arg)
c.1327T>C (p.Trp443Arg)
c.358T>C (p.Trp120Arg)
20g.63414978A>TCA409646450KCNQ2c.1396T>A (p.Trp466Arg)
c.1450T>A (p.Trp484Arg)
c.847T>A (p.Trp283Arg)
c.1360T>A (p.Trp454Arg)
c.1018T>A (p.Trp340Arg)
c.1366T>A (p.Trp456Arg)
c.1330T>A (p.Trp444Arg)
c.510T>A
c.58T>A (p.Trp20Arg)
c.1420T>A (p.Trp474Arg)
c.1324T>A (p.Trp442Arg)
c.931T>A (p.Trp311Arg)
c.1327T>A (p.Trp443Arg)
c.358T>A (p.Trp120Arg)
20g.63414979G>ACA511339702KCNQ2c.1395C>T (p.Ser465=)
c.1449C>T (p.Ser483=)
c.846C>T (p.Ser282=)
c.1359C>T (p.Ser453=)
c.1017C>T (p.Ser339=)
c.1365C>T (p.Ser455=)
c.1329C>T (p.Ser443=)
c.509C>T
c.57C>T (p.Ser19=)
c.1419C>T (p.Ser473=)
c.1323C>T (p.Ser441=)
c.930C>T (p.Ser310=)
c.1326C>T (p.Ser442=)
c.357C>T (p.Ser119=)
 COSMIC
20g.63414979G>CCA409646451KCNQ2c.1395C>G (p.Ser465Arg)
c.1449C>G (p.Ser483Arg)
c.846C>G (p.Ser282Arg)
c.1359C>G (p.Ser453Arg)
c.1017C>G (p.Ser339Arg)
c.1365C>G (p.Ser455Arg)
c.1329C>G (p.Ser443Arg)
c.509C>G
c.57C>G (p.Ser19Arg)
c.1419C>G (p.Ser473Arg)
c.1323C>G (p.Ser441Arg)
c.930C>G (p.Ser310Arg)
c.1326C>G (p.Ser442Arg)
c.357C>G (p.Ser119Arg)
20g.63414979G=CA2374778796KCNQ2c.1395C= (p.Ser465=)
c.1449C= (p.Ser483=)
c.846C= (p.Ser282=)
c.1359C= (p.Ser453=)
c.1017C= (p.Ser339=)
c.1365C= (p.Ser455=)
c.1329C= (p.Ser443=)
c.509C=
c.57C= (p.Ser19=)
c.1419C= (p.Ser473=)
c.1323C= (p.Ser441=)
c.930C= (p.Ser310=)
c.1326C= (p.Ser442=)
c.357C= (p.Ser119=)
20g.63414979G>TCA317431032KCNQ2c.1395C>A (p.Ser465Arg)
c.1449C>A (p.Ser483Arg)
c.846C>A (p.Ser282Arg)
c.1359C>A (p.Ser453Arg)
c.1017C>A (p.Ser339Arg)
c.1365C>A (p.Ser455Arg)
c.1329C>A (p.Ser443Arg)
c.509C>A
c.57C>A (p.Ser19Arg)
c.1419C>A (p.Ser473Arg)
c.1323C>A (p.Ser441Arg)
c.930C>A (p.Ser310Arg)
c.1326C>A (p.Ser442Arg)
c.357C>A (p.Ser119Arg)
 dbSNP
20g.63414980C>ACA409646457KCNQ2c.1394G>T (p.Ser465Ile)
c.1448G>T (p.Ser483Ile)
c.845G>T (p.Ser282Ile)
c.1358G>T (p.Ser453Ile)
c.1016G>T (p.Ser339Ile)
c.1364G>T (p.Ser455Ile)
c.1328G>T (p.Ser443Ile)
c.508G>T
c.56G>T (p.Ser19Ile)
c.1418G>T (p.Ser473Ile)
c.1322G>T (p.Ser441Ile)
c.929G>T (p.Ser310Ile)
c.1325G>T (p.Ser442Ile)
c.356G>T (p.Ser119Ile)
20g.63414980C>GCA409646459KCNQ2c.1394G>C (p.Ser465Thr)
c.1448G>C (p.Ser483Thr)
c.845G>C (p.Ser282Thr)
c.1358G>C (p.Ser453Thr)
c.1016G>C (p.Ser339Thr)
c.1364G>C (p.Ser455Thr)
c.1328G>C (p.Ser443Thr)
c.508G>C
c.56G>C (p.Ser19Thr)
c.1418G>C (p.Ser473Thr)
c.1322G>C (p.Ser441Thr)
c.929G>C (p.Ser310Thr)
c.1325G>C (p.Ser442Thr)
c.356G>C (p.Ser119Thr)
 gnomAD v4
20g.63414980C>TCA409646461KCNQ2c.1394G>A (p.Ser465Asn)
c.1448G>A (p.Ser483Asn)
c.845G>A (p.Ser282Asn)
c.1358G>A (p.Ser453Asn)
c.1016G>A (p.Ser339Asn)
c.1364G>A (p.Ser455Asn)
c.1328G>A (p.Ser443Asn)
c.508G>A
c.56G>A (p.Ser19Asn)
c.1418G>A (p.Ser473Asn)
c.1322G>A (p.Ser441Asn)
c.929G>A (p.Ser310Asn)
c.1325G>A (p.Ser442Asn)
c.356G>A (p.Ser119Asn)
 COSMIC COSMIC COSMIC
20g.63414981T>ACA409646463KCNQ2c.1393A>T (p.Ser465Cys)
c.1447A>T (p.Ser483Cys)
c.844A>T (p.Ser282Cys)
c.1357A>T (p.Ser453Cys)
c.1015A>T (p.Ser339Cys)
c.1363A>T (p.Ser455Cys)
c.1327A>T (p.Ser443Cys)
c.507A>T
c.55A>T (p.Ser19Cys)
c.1417A>T (p.Ser473Cys)
c.1321A>T (p.Ser441Cys)
c.928A>T (p.Ser310Cys)
c.1324A>T (p.Ser442Cys)
c.355A>T (p.Ser119Cys)
20g.63414981T>CCA409646468KCNQ2c.1393A>G (p.Ser465Gly)
c.1447A>G (p.Ser483Gly)
c.844A>G (p.Ser282Gly)
c.1357A>G (p.Ser453Gly)
c.1015A>G (p.Ser339Gly)
c.1363A>G (p.Ser455Gly)
c.1327A>G (p.Ser443Gly)
c.507A>G
c.55A>G (p.Ser19Gly)
c.1417A>G (p.Ser473Gly)
c.1321A>G (p.Ser441Gly)
c.928A>G (p.Ser310Gly)
c.1324A>G (p.Ser442Gly)
c.355A>G (p.Ser119Gly)
20g.63414981T>GCA409646466KCNQ2c.1393A>C (p.Ser465Arg)
c.1447A>C (p.Ser483Arg)
c.844A>C (p.Ser282Arg)
c.1357A>C (p.Ser453Arg)
c.1015A>C (p.Ser339Arg)
c.1363A>C (p.Ser455Arg)
c.1327A>C (p.Ser443Arg)
c.507A>C
c.55A>C (p.Ser19Arg)
c.1417A>C (p.Ser473Arg)
c.1321A>C (p.Ser441Arg)
c.928A>C (p.Ser310Arg)
c.1324A>C (p.Ser442Arg)
c.355A>C (p.Ser119Arg)
20g.63414982C>ACA409646470KCNQ2c.1392G>T (p.Lys464Asn)
c.1446G>T (p.Lys482Asn)
c.843G>T (p.Lys281Asn)
c.1356G>T (p.Lys452Asn)
c.1014G>T (p.Lys338Asn)
c.1362G>T (p.Lys454Asn)
c.1326G>T (p.Lys442Asn)
c.506G>T
c.54G>T (p.Lys18Asn)
c.1416G>T (p.Lys472Asn)
c.1320G>T (p.Lys440Asn)
c.927G>T (p.Lys309Asn)
c.1323G>T (p.Lys441Asn)
c.354G>T (p.Lys118Asn)
20g.63414982C=CA2374778797KCNQ2c.1392G= (p.Lys464=)
c.1446G= (p.Lys482=)
c.843G= (p.Lys281=)
c.1356G= (p.Lys452=)
c.1014G= (p.Lys338=)
c.1362G= (p.Lys454=)
c.1326G= (p.Lys442=)
c.506G=
c.54G= (p.Lys18=)
c.1416G= (p.Lys472=)
c.1320G= (p.Lys440=)
c.927G= (p.Lys309=)
c.1323G= (p.Lys441=)
c.354G= (p.Lys118=)
20g.63414982C>GCA409646473KCNQ2c.1392G>C (p.Lys464Asn)
c.1446G>C (p.Lys482Asn)
c.843G>C (p.Lys281Asn)
c.1356G>C (p.Lys452Asn)
c.1014G>C (p.Lys338Asn)
c.1362G>C (p.Lys454Asn)
c.1326G>C (p.Lys442Asn)
c.506G>C
c.54G>C (p.Lys18Asn)
c.1416G>C (p.Lys472Asn)
c.1320G>C (p.Lys440Asn)
c.927G>C (p.Lys309Asn)
c.1323G>C (p.Lys441Asn)
c.354G>C (p.Lys118Asn)
20g.63414982C>TCA511339703KCNQ2c.1392G>A (p.Lys464=)
c.1446G>A (p.Lys482=)
c.843G>A (p.Lys281=)
c.1356G>A (p.Lys452=)
c.1014G>A (p.Lys338=)
c.1362G>A (p.Lys454=)
c.1326G>A (p.Lys442=)
c.506G>A
c.54G>A (p.Lys18=)
c.1416G>A (p.Lys472=)
c.1320G>A (p.Lys440=)
c.927G>A (p.Lys309=)
c.1323G>A (p.Lys441=)
c.354G>A (p.Lys118=)
 ClinVar dbSNP gnomAD v2
20g.63414983T>ACA409646477KCNQ2c.1391A>T (p.Lys464Met)
c.1445A>T (p.Lys482Met)
c.842A>T (p.Lys281Met)
c.1355A>T (p.Lys452Met)
c.1013A>T (p.Lys338Met)
c.1361A>T (p.Lys454Met)
c.1325A>T (p.Lys442Met)
c.505A>T
c.53A>T (p.Lys18Met)
c.1415A>T (p.Lys472Met)
c.1319A>T (p.Lys440Met)
c.926A>T (p.Lys309Met)
c.1322A>T (p.Lys441Met)
c.353A>T (p.Lys118Met)
20g.63414983T>CCA409646479KCNQ2c.1391A>G (p.Lys464Arg)
c.1445A>G (p.Lys482Arg)
c.842A>G (p.Lys281Arg)
c.1355A>G (p.Lys452Arg)
c.1013A>G (p.Lys338Arg)
c.1361A>G (p.Lys454Arg)
c.1325A>G (p.Lys442Arg)
c.505A>G
c.53A>G (p.Lys18Arg)
c.1415A>G (p.Lys472Arg)
c.1319A>G (p.Lys440Arg)
c.926A>G (p.Lys309Arg)
c.1322A>G (p.Lys441Arg)
c.353A>G (p.Lys118Arg)
 ClinVar
20g.63414983T>GCA409646482KCNQ2c.1391A>C (p.Lys464Thr)
c.1445A>C (p.Lys482Thr)
c.842A>C (p.Lys281Thr)
c.1355A>C (p.Lys452Thr)
c.1013A>C (p.Lys338Thr)
c.1361A>C (p.Lys454Thr)
c.1325A>C (p.Lys442Thr)
c.505A>C
c.53A>C (p.Lys18Thr)
c.1415A>C (p.Lys472Thr)
c.1319A>C (p.Lys440Thr)
c.926A>C (p.Lys309Thr)
c.1322A>C (p.Lys441Thr)
c.353A>C (p.Lys118Thr)
20g.63414984T>ACA409646486KCNQ2c.1390A>T (p.Lys464Ter)
c.1444A>T (p.Lys482Ter)
c.841A>T (p.Lys281Ter)
c.1354A>T (p.Lys452Ter)
c.1012A>T (p.Lys338Ter)
c.1360A>T (p.Lys454Ter)
c.1324A>T (p.Lys442Ter)
c.504A>T
c.52A>T (p.Lys18Ter)
c.1414A>T (p.Lys472Ter)
c.1318A>T (p.Lys440Ter)
c.925A>T (p.Lys309Ter)
c.1321A>T (p.Lys441Ter)
c.352A>T (p.Lys118Ter)
 ClinVar dbSNP
20g.63414984T>CCA409646488KCNQ2c.1390A>G (p.Lys464Glu)
c.1444A>G (p.Lys482Glu)
c.841A>G (p.Lys281Glu)
c.1354A>G (p.Lys452Glu)
c.1012A>G (p.Lys338Glu)
c.1360A>G (p.Lys454Glu)
c.1324A>G (p.Lys442Glu)
c.504A>G
c.52A>G (p.Lys18Glu)
c.1414A>G (p.Lys472Glu)
c.1318A>G (p.Lys440Glu)
c.925A>G (p.Lys309Glu)
c.1321A>G (p.Lys441Glu)
c.352A>G (p.Lys118Glu)
20g.63414984T>GCA409646491KCNQ2c.1390A>C (p.Lys464Gln)
c.1444A>C (p.Lys482Gln)
c.841A>C (p.Lys281Gln)
c.1354A>C (p.Lys452Gln)
c.1012A>C (p.Lys338Gln)
c.1360A>C (p.Lys454Gln)
c.1324A>C (p.Lys442Gln)
c.504A>C
c.52A>C (p.Lys18Gln)
c.1414A>C (p.Lys472Gln)
c.1318A>C (p.Lys440Gln)
c.925A>C (p.Lys309Gln)
c.1321A>C (p.Lys441Gln)
c.352A>C (p.Lys118Gln)
 COSMIC COSMIC COSMIC
20g.63414984T=CA2374778798KCNQ2c.1390A= (p.Lys464=)
c.1444A= (p.Lys482=)
c.841A= (p.Lys281=)
c.1354A= (p.Lys452=)
c.1012A= (p.Lys338=)
c.1360A= (p.Lys454=)
c.1324A= (p.Lys442=)
c.504A=
c.52A= (p.Lys18=)
c.1414A= (p.Lys472=)
c.1318A= (p.Lys440=)
c.925A= (p.Lys309=)
c.1321A= (p.Lys441=)
c.352A= (p.Lys118=)
20g.63414985G>ACA511339704KCNQ2c.1389C>T (p.Pro463=)
c.1443C>T (p.Pro481=)
c.840C>T (p.Pro280=)
c.1353C>T (p.Pro451=)
c.1011C>T (p.Pro337=)
c.1359C>T (p.Pro453=)
c.1323C>T (p.Pro441=)
c.503C>T
c.51C>T (p.Pro17=)
c.1413C>T (p.Pro471=)
c.1317C>T (p.Pro439=)
c.924C>T (p.Pro308=)
c.1320C>T (p.Pro440=)
c.351C>T (p.Pro117=)
 gnomAD v4
20g.63414985G>CCA511339705KCNQ2c.1389C>G (p.Pro463=)
c.1443C>G (p.Pro481=)
c.840C>G (p.Pro280=)
c.1353C>G (p.Pro451=)
c.1011C>G (p.Pro337=)
c.1359C>G (p.Pro453=)
c.1323C>G (p.Pro441=)
c.503C>G
c.51C>G (p.Pro17=)
c.1413C>G (p.Pro471=)
c.1317C>G (p.Pro439=)
c.924C>G (p.Pro308=)
c.1320C>G (p.Pro440=)
c.351C>G (p.Pro117=)
 dbSNP
20g.63414985G=CA2374778799KCNQ2c.1389C= (p.Pro463=)
c.1443C= (p.Pro481=)
c.840C= (p.Pro280=)
c.1353C= (p.Pro451=)
c.1011C= (p.Pro337=)
c.1359C= (p.Pro453=)
c.1323C= (p.Pro441=)
c.503C=
c.51C= (p.Pro17=)
c.1413C= (p.Pro471=)
c.1317C= (p.Pro439=)
c.924C= (p.Pro308=)
c.1320C= (p.Pro440=)
c.351C= (p.Pro117=)
20g.63414985G>TCA511339706KCNQ2c.1389C>A (p.Pro463=)
c.1443C>A (p.Pro481=)
c.840C>A (p.Pro280=)
c.1353C>A (p.Pro451=)
c.1011C>A (p.Pro337=)
c.1359C>A (p.Pro453=)
c.1323C>A (p.Pro441=)
c.503C>A
c.51C>A (p.Pro17=)
c.1413C>A (p.Pro471=)
c.1317C>A (p.Pro439=)
c.924C>A (p.Pro308=)
c.1320C>A (p.Pro440=)
c.351C>A (p.Pro117=)
20g.63414987delCA2653800582KCNQ2c.1389del (p.Lys464ArgfsTer?)
c.1443del (p.Lys482ArgfsTer?)
c.840del (p.Lys281ArgfsTer?)
c.1353del (p.Lys452ArgfsTer?)
c.1011del (p.Lys338ArgfsTer?)
c.1359del (p.Lys454ArgfsTer?)
c.1323del (p.Lys442ArgfsTer?)
c.503del
c.51del (p.Lys18ArgfsTer?)
c.1413del (p.Lys472ArgfsTer?)
c.1317del (p.Lys440ArgfsTer?)
c.924del (p.Lys309ArgfsTer?)
c.1320del (p.Lys441ArgfsTer?)
c.351del (p.Lys118ArgfsTer?)
 gnomAD v4
20g.63414986G>ACA409646495KCNQ2c.1388C>T (p.Pro463Leu)
c.1442C>T (p.Pro481Leu)
c.839C>T (p.Pro280Leu)
c.1352C>T (p.Pro451Leu)
c.1010C>T (p.Pro337Leu)
c.1358C>T (p.Pro453Leu)
c.1322C>T (p.Pro441Leu)
c.502C>T
c.50C>T (p.Pro17Leu)
c.1412C>T (p.Pro471Leu)
c.1316C>T (p.Pro439Leu)
c.923C>T (p.Pro308Leu)
c.1319C>T (p.Pro440Leu)
c.350C>T (p.Pro117Leu)
 gnomAD v4
20g.63414986G>CCA409646497KCNQ2c.1388C>G (p.Pro463Arg)
c.1442C>G (p.Pro481Arg)
c.839C>G (p.Pro280Arg)
c.1352C>G (p.Pro451Arg)
c.1010C>G (p.Pro337Arg)
c.1358C>G (p.Pro453Arg)
c.1322C>G (p.Pro441Arg)
c.502C>G
c.50C>G (p.Pro17Arg)
c.1412C>G (p.Pro471Arg)
c.1316C>G (p.Pro439Arg)
c.923C>G (p.Pro308Arg)
c.1319C>G (p.Pro440Arg)
c.350C>G (p.Pro117Arg)
20g.63414986G>TCA409646500KCNQ2c.1388C>A (p.Pro463His)
c.1442C>A (p.Pro481His)
c.839C>A (p.Pro280His)
c.1352C>A (p.Pro451His)
c.1010C>A (p.Pro337His)
c.1358C>A (p.Pro453His)
c.1322C>A (p.Pro441His)
c.502C>A
c.50C>A (p.Pro17His)
c.1412C>A (p.Pro471His)
c.1316C>A (p.Pro439His)
c.923C>A (p.Pro308His)
c.1319C>A (p.Pro440His)
c.350C>A (p.Pro117His)
20g.63414986_63414987insTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACCA2816991476KCNQ2c.1387_1388insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro463ArgfsTer?)
c.1441_1442insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro481ArgfsTer?)
c.838_839insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro280ArgfsTer?)
c.1351_1352insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro451ArgfsTer?)
c.1009_1010insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro337ArgfsTer?)
c.1357_1358insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro453ArgfsTer?)
c.1321_1322insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro441ArgfsTer?)
c.501_502insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA
c.49_50insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro17ArgfsTer?)
c.1411_1412insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro471ArgfsTer?)
c.1315_1316insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro439ArgfsTer?)
c.922_923insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro308ArgfsTer?)
c.1318_1319insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro440ArgfsTer?)
c.349_350insGTCGCAGCTGCTTTTGCTTGCTCTTGGAGTGGGAA (p.Pro117ArgfsTer?)
20g.63414987G>ACA409646507KCNQ2c.1387C>T (p.Pro463Ser)
c.1441C>T (p.Pro481Ser)
c.838C>T (p.Pro280Ser)
c.1351C>T (p.Pro451Ser)
c.1009C>T (p.Pro337Ser)
c.1357C>T (p.Pro453Ser)
c.1321C>T (p.Pro441Ser)
c.501C>T
c.49C>T (p.Pro17Ser)
c.1411C>T (p.Pro471Ser)
c.1315C>T (p.Pro439Ser)
c.922C>T (p.Pro308Ser)
c.1318C>T (p.Pro440Ser)
c.349C>T (p.Pro117Ser)
 dbSNP gnomAD v4
20g.63414987G>CCA409646502KCNQ2c.1387C>G (p.Pro463Ala)
c.1441C>G (p.Pro481Ala)
c.838C>G (p.Pro280Ala)
c.1351C>G (p.Pro451Ala)
c.1009C>G (p.Pro337Ala)
c.1357C>G (p.Pro453Ala)
c.1321C>G (p.Pro441Ala)
c.501C>G
c.49C>G (p.Pro17Ala)
c.1411C>G (p.Pro471Ala)
c.1315C>G (p.Pro439Ala)
c.922C>G (p.Pro308Ala)
c.1318C>G (p.Pro440Ala)
c.349C>G (p.Pro117Ala)
20g.63414987G>TCA409646505KCNQ2c.1387C>A (p.Pro463Thr)
c.1441C>A (p.Pro481Thr)
c.838C>A (p.Pro280Thr)
c.1351C>A (p.Pro451Thr)
c.1009C>A (p.Pro337Thr)
c.1357C>A (p.Pro453Thr)
c.1321C>A (p.Pro441Thr)
c.501C>A
c.49C>A (p.Pro17Thr)
c.1411C>A (p.Pro471Thr)
c.1315C>A (p.Pro439Thr)
c.922C>A (p.Pro308Thr)
c.1318C>A (p.Pro440Thr)
c.349C>A (p.Pro117Thr)
20g.63414988C>ACA511339707KCNQ2c.1386G>T (p.Val462=)
c.1440G>T (p.Val480=)
c.837G>T (p.Val279=)
c.1350G>T (p.Val450=)
c.1008G>T (p.Val336=)
c.1356G>T (p.Val452=)
c.1320G>T (p.Val440=)
c.500G>T
c.48G>T (p.Val16=)
c.1410G>T (p.Val470=)
c.1314G>T (p.Val438=)
c.921G>T (p.Val307=)
c.1317G>T (p.Val439=)
c.348G>T (p.Val116=)
20g.63414988C=CA2374778800KCNQ2c.1386G= (p.Val462=)
c.1440G= (p.Val480=)
c.837G= (p.Val279=)
c.1350G= (p.Val450=)
c.1008G= (p.Val336=)
c.1356G= (p.Val452=)
c.1320G= (p.Val440=)
c.500G=
c.48G= (p.Val16=)
c.1410G= (p.Val470=)
c.1314G= (p.Val438=)
c.921G= (p.Val307=)
c.1317G= (p.Val439=)
c.348G= (p.Val116=)
20g.63414988C>GCA511339709KCNQ2c.1386G>C (p.Val462=)
c.1440G>C (p.Val480=)
c.837G>C (p.Val279=)
c.1350G>C (p.Val450=)
c.1008G>C (p.Val336=)
c.1356G>C (p.Val452=)
c.1320G>C (p.Val440=)
c.500G>C
c.48G>C (p.Val16=)
c.1410G>C (p.Val470=)
c.1314G>C (p.Val438=)
c.921G>C (p.Val307=)
c.1317G>C (p.Val439=)
c.348G>C (p.Val116=)
20g.63414988C>TCA511339708KCNQ2c.1386G>A (p.Val462=)
c.1440G>A (p.Val480=)
c.837G>A (p.Val279=)
c.1350G>A (p.Val450=)
c.1008G>A (p.Val336=)
c.1356G>A (p.Val452=)
c.1320G>A (p.Val440=)
c.500G>A
c.48G>A (p.Val16=)
c.1410G>A (p.Val470=)
c.1314G>A (p.Val438=)
c.921G>A (p.Val307=)
c.1317G>A (p.Val439=)
c.348G>A (p.Val116=)
 dbSNP gnomAD v2 gnomAD v4
20g.63414989A>CCA409646510KCNQ2c.1385T>G (p.Val462Gly)
c.1439T>G (p.Val480Gly)
c.836T>G (p.Val279Gly)
c.1349T>G (p.Val450Gly)
c.1007T>G (p.Val336Gly)
c.1355T>G (p.Val452Gly)
c.1319T>G (p.Val440Gly)
c.499T>G
c.47T>G (p.Val16Gly)
c.1409T>G (p.Val470Gly)
c.1313T>G (p.Val438Gly)
c.920T>G (p.Val307Gly)
c.1316T>G (p.Val439Gly)
c.347T>G (p.Val116Gly)
20g.63414989A>GCA409646512KCNQ2c.1385T>C (p.Val462Ala)
c.1439T>C (p.Val480Ala)
c.836T>C (p.Val279Ala)
c.1349T>C (p.Val450Ala)
c.1007T>C (p.Val336Ala)
c.1355T>C (p.Val452Ala)
c.1319T>C (p.Val440Ala)
c.499T>C
c.47T>C (p.Val16Ala)
c.1409T>C (p.Val470Ala)
c.1313T>C (p.Val438Ala)
c.920T>C (p.Val307Ala)
c.1316T>C (p.Val439Ala)
c.347T>C (p.Val116Ala)
 COSMIC COSMIC COSMIC
20g.63414989A>TCA409646515KCNQ2c.1385T>A (p.Val462Glu)
c.1439T>A (p.Val480Glu)
c.836T>A (p.Val279Glu)
c.1349T>A (p.Val450Glu)
c.1007T>A (p.Val336Glu)
c.1355T>A (p.Val452Glu)
c.1319T>A (p.Val440Glu)
c.499T>A
c.47T>A (p.Val16Glu)
c.1409T>A (p.Val470Glu)
c.1313T>A (p.Val438Glu)
c.920T>A (p.Val307Glu)
c.1316T>A (p.Val439Glu)
c.347T>A (p.Val116Glu)
20g.63414990C>ACA409646519KCNQ2c.1384G>T (p.Val462Leu)
c.1438G>T (p.Val480Leu)
c.835G>T (p.Val279Leu)
c.1348G>T (p.Val450Leu)
c.1006G>T (p.Val336Leu)
c.1354G>T (p.Val452Leu)
c.1318G>T (p.Val440Leu)
c.498G>T
c.46G>T (p.Val16Leu)
c.1408G>T (p.Val470Leu)
c.1312G>T (p.Val438Leu)
c.919G>T (p.Val307Leu)
c.1315G>T (p.Val439Leu)
c.346G>T (p.Val116Leu)
20g.63414990C>GCA409646522KCNQ2c.1384G>C (p.Val462Leu)
c.1438G>C (p.Val480Leu)
c.835G>C (p.Val279Leu)
c.1348G>C (p.Val450Leu)
c.1006G>C (p.Val336Leu)
c.1354G>C (p.Val452Leu)
c.1318G>C (p.Val440Leu)
c.498G>C
c.46G>C (p.Val16Leu)
c.1408G>C (p.Val470Leu)
c.1312G>C (p.Val438Leu)
c.919G>C (p.Val307Leu)
c.1315G>C (p.Val439Leu)
c.346G>C (p.Val116Leu)
20g.63414990C>TCA409646525KCNQ2c.1384G>A (p.Val462Met)
c.1438G>A (p.Val480Met)
c.835G>A (p.Val279Met)
c.1348G>A (p.Val450Met)
c.1006G>A (p.Val336Met)
c.1354G>A (p.Val452Met)
c.1318G>A (p.Val440Met)
c.498G>A
c.46G>A (p.Val16Met)
c.1408G>A (p.Val470Met)
c.1312G>A (p.Val438Met)
c.919G>A (p.Val307Met)
c.1315G>A (p.Val439Met)
c.346G>A (p.Val116Met)
 gnomAD v4

Number of alleles fetched