Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2777940C>A | CA597110476 | KCNQ1 | c.1376-36C>A (n.1376-36C>A) c.1193-36C>A (n.1193-36C>A) c.1733-36C>A (n.1733-36C>A) c.1352-36C>A (n.1352-36C>A) c.137-36C>A (n.137-36C>A) c.839-36C>A (n.839-36C>A) n.240-36C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2777940C= | CA1948315068 | KCNQ1 | c.1376-36C= (n.1376-36C=) c.1193-36C= (n.1193-36C=) c.1733-36C= (n.1733-36C=) c.1352-36C= (n.1352-36C=) c.137-36C= (n.137-36C=) c.839-36C= (n.839-36C=) n.240-36C= | |
11 | g.2777942C>T | CA2723269822 | KCNQ1 | c.1376-34C>T (n.1376-34C>T) c.1193-34C>T (n.1193-34C>T) c.1733-34C>T (n.1733-34C>T) c.1352-34C>T (n.1352-34C>T) c.137-34C>T (n.137-34C>T) c.839-34C>T (n.839-34C>T) n.240-34C>T | dbSNP |
11 | g.2777943T>A | CA2790204619 | KCNQ1 | c.1376-33T>A (n.1376-33T>A) c.1193-33T>A (n.1193-33T>A) c.1733-33T>A (n.1733-33T>A) c.1352-33T>A (n.1352-33T>A) c.137-33T>A (n.137-33T>A) c.839-33T>A (n.839-33T>A) n.240-33T>A | |
11 | g.2777944T>G | CA032451 | KCNQ1 | c.1376-32T>G (n.1376-32T>G) c.1193-32T>G (n.1193-32T>G) c.1733-32T>G (n.1733-32T>G) c.1352-32T>G (n.1352-32T>G) c.137-32T>G (n.137-32T>G) c.839-32T>G (n.839-32T>G) n.240-32T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777944T= | CA1948315069 | KCNQ1 | c.1376-32T= (n.1376-32T=) c.1193-32T= (n.1193-32T=) c.1733-32T= (n.1733-32T=) c.1352-32T= (n.1352-32T=) c.137-32T= (n.137-32T=) c.839-32T= (n.839-32T=) n.240-32T= | |
11 | g.2777946G= | CA1948315070 | KCNQ1 | c.1376-30G= (n.1376-30G=) c.1193-30G= (n.1193-30G=) c.1733-30G= (n.1733-30G=) c.1352-30G= (n.1352-30G=) c.137-30G= (n.137-30G=) c.839-30G= (n.839-30G=) n.240-30G= | |
11 | g.2777946G>T | CA032423 | KCNQ1 | c.1376-30G>T (n.1376-30G>T) c.1193-30G>T (n.1193-30G>T) c.1733-30G>T (n.1733-30G>T) c.1352-30G>T (n.1352-30G>T) c.137-30G>T (n.137-30G>T) c.839-30G>T (n.839-30G>T) n.240-30G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777947C>A | CA032415 | KCNQ1 | c.1376-29C>A (n.1376-29C>A) c.1193-29C>A (n.1193-29C>A) c.1733-29C>A (n.1733-29C>A) c.1352-29C>A (n.1352-29C>A) c.137-29C>A (n.137-29C>A) c.839-29C>A (n.839-29C>A) n.240-29C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777947C= | CA1948315071 | KCNQ1 | c.1376-29C= (n.1376-29C=) c.1193-29C= (n.1193-29C=) c.1733-29C= (n.1733-29C=) c.1352-29C= (n.1352-29C=) c.137-29C= (n.137-29C=) c.839-29C= (n.839-29C=) n.240-29C= | |
11 | g.2777947C>T | CA597110477 | KCNQ1 | c.1376-29C>T (n.1376-29C>T) c.1193-29C>T (n.1193-29C>T) c.1733-29C>T (n.1733-29C>T) c.1352-29C>T (n.1352-29C>T) c.137-29C>T (n.137-29C>T) c.839-29C>T (n.839-29C>T) n.240-29C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2777949del | CA2839553791 | KCNQ1 | c.1376-27del (n.1376-27del) c.1193-27del (n.1193-27del) c.1733-27del (n.1733-27del) c.1352-27del (n.1352-27del) c.137-27del (n.137-27del) c.839-27del (n.839-27del) n.240-27del | |
11 | g.2777949C>A | CA1948315073 | KCNQ1 | c.1376-27C>A (n.1376-27C>A) c.1193-27C>A (n.1193-27C>A) c.1733-27C>A (n.1733-27C>A) c.1352-27C>A (n.1352-27C>A) c.137-27C>A (n.137-27C>A) c.839-27C>A (n.839-27C>A) n.240-27C>A | dbSNP gnomAD v4 |
11 | g.2777949C= | CA1948315072 | KCNQ1 | c.1376-27C= (n.1376-27C=) c.1193-27C= (n.1193-27C=) c.1733-27C= (n.1733-27C=) c.1352-27C= (n.1352-27C=) c.137-27C= (n.137-27C=) c.839-27C= (n.839-27C=) n.240-27C= | |
11 | g.2777949C>G | CA675198195 | KCNQ1 | c.1376-27C>G (n.1376-27C>G) c.1193-27C>G (n.1193-27C>G) c.1733-27C>G (n.1733-27C>G) c.1352-27C>G (n.1352-27C>G) c.137-27C>G (n.137-27C>G) c.839-27C>G (n.839-27C>G) n.240-27C>G | dbSNP |
11 | g.2777949C>T | CA472465477 | KCNQ1 | c.1376-27C>T (n.1376-27C>T) c.1193-27C>T (n.1193-27C>T) c.1733-27C>T (n.1733-27C>T) c.1352-27C>T (n.1352-27C>T) c.137-27C>T (n.137-27C>T) c.839-27C>T (n.839-27C>T) n.240-27C>T | gnomAD v4 |
11 | g.2777950T>C | CA1948315075 | KCNQ1 | c.1376-26T>C (n.1376-26T>C) c.1193-26T>C (n.1193-26T>C) c.1733-26T>C (n.1733-26T>C) c.1352-26T>C (n.1352-26T>C) c.137-26T>C (n.137-26T>C) c.839-26T>C (n.839-26T>C) n.240-26T>C | dbSNP |
11 | g.2777950T= | CA1948315074 | KCNQ1 | c.1376-26T= (n.1376-26T=) c.1193-26T= (n.1193-26T=) c.1733-26T= (n.1733-26T=) c.1352-26T= (n.1352-26T=) c.137-26T= (n.137-26T=) c.839-26T= (n.839-26T=) n.240-26T= | |
11 | g.2777951G>C | CA2612010955 | KCNQ1 | c.1376-25G>C (n.1376-25G>C) c.1193-25G>C (n.1193-25G>C) c.1733-25G>C (n.1733-25G>C) c.1352-25G>C (n.1352-25G>C) c.137-25G>C (n.137-25G>C) c.839-25G>C (n.839-25G>C) n.240-25G>C | gnomAD v4 |
11 | g.2777951G>T | CA2840840839 | KCNQ1 | c.1376-25G>T (n.1376-25G>T) c.1193-25G>T (n.1193-25G>T) c.1733-25G>T (n.1733-25G>T) c.1352-25G>T (n.1352-25G>T) c.137-25G>T (n.137-25G>T) c.839-25G>T (n.839-25G>T) n.240-25G>T | |
11 | g.2777955_2777956insCTATGGG | CA2612010956 | KCNQ1 | c.1376-21_1376-20insCTATGGG (n.1376-21_1376-20insCTATGGG) c.1193-21_1193-20insCTATGGG (n.1193-21_1193-20insCTATGGG) c.1733-21_1733-20insCTATGGG (n.1733-21_1733-20insCTATGGG) c.1352-21_1352-20insCTATGGG (n.1352-21_1352-20insCTATGGG) c.137-21_137-20insCTATGGG (n.137-21_137-20insCTATGGG) c.839-21_839-20insCTATGGG (n.839-21_839-20insCTATGGG) n.240-21_240-20insCTATGGG | gnomAD v4 |
11 | g.2777956G>C | CA216321892 | KCNQ1 | c.1376-20G>C (n.1376-20G>C) c.1193-20G>C (n.1193-20G>C) c.1733-20G>C (n.1733-20G>C) c.1352-20G>C (n.1352-20G>C) c.137-20G>C (n.137-20G>C) c.839-20G>C (n.839-20G>C) n.240-20G>C | dbSNP |
11 | g.2777956G= | CA1948315076 | KCNQ1 | c.1376-20G= (n.1376-20G=) c.1193-20G= (n.1193-20G=) c.1733-20G= (n.1733-20G=) c.1352-20G= (n.1352-20G=) c.137-20G= (n.137-20G=) c.839-20G= (n.839-20G=) n.240-20G= | |
11 | g.2777957G>C | CA2574728524 | KCNQ1 | c.1376-19G>C (n.1376-19G>C) c.1193-19G>C (n.1193-19G>C) c.1733-19G>C (n.1733-19G>C) c.1352-19G>C (n.1352-19G>C) c.137-19G>C (n.137-19G>C) c.839-19G>C (n.839-19G>C) n.240-19G>C | |
11 | g.2777958G>A | CA2574728525 | KCNQ1 | c.1376-18G>A (n.1376-18G>A) c.1193-18G>A (n.1193-18G>A) c.1733-18G>A (n.1733-18G>A) c.1352-18G>A (n.1352-18G>A) c.137-18G>A (n.137-18G>A) c.839-18G>A (n.839-18G>A) n.240-18G>A | gnomAD v4 |
11 | g.2777958G>T | CA2612010958 | KCNQ1 | c.1376-18G>T (n.1376-18G>T) c.1193-18G>T (n.1193-18G>T) c.1733-18G>T (n.1733-18G>T) c.1352-18G>T (n.1352-18G>T) c.137-18G>T (n.137-18G>T) c.839-18G>T (n.839-18G>T) n.240-18G>T | gnomAD v4 |
11 | g.2777959T>A | CA2840840840 | KCNQ1 | c.1376-17T>A (n.1376-17T>A) c.1193-17T>A (n.1193-17T>A) c.1733-17T>A (n.1733-17T>A) c.1352-17T>A (n.1352-17T>A) c.137-17T>A (n.137-17T>A) c.839-17T>A (n.839-17T>A) n.240-17T>A | |
11 | g.2777959T>G | CA032398 | KCNQ1 | c.1376-17T>G (n.1376-17T>G) c.1193-17T>G (n.1193-17T>G) c.1733-17T>G (n.1733-17T>G) c.1352-17T>G (n.1352-17T>G) c.137-17T>G (n.137-17T>G) c.839-17T>G (n.839-17T>G) n.240-17T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2777959T= | CA1948315077 | KCNQ1 | c.1376-17T= (n.1376-17T=) c.1193-17T= (n.1193-17T=) c.1733-17T= (n.1733-17T=) c.1352-17T= (n.1352-17T=) c.137-17T= (n.137-17T=) c.839-17T= (n.839-17T=) n.240-17T= | |
11 | g.2777960G>A | CA032384 | KCNQ1 | c.1376-16G>A (n.1376-16G>A) c.1193-16G>A (n.1193-16G>A) c.1733-16G>A (n.1733-16G>A) c.1352-16G>A (n.1352-16G>A) c.137-16G>A (n.137-16G>A) c.839-16G>A (n.839-16G>A) n.240-16G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777960G= | CA1948315078 | KCNQ1 | c.1376-16G= (n.1376-16G=) c.1193-16G= (n.1193-16G=) c.1733-16G= (n.1733-16G=) c.1352-16G= (n.1352-16G=) c.137-16G= (n.137-16G=) c.839-16G= (n.839-16G=) n.240-16G= | |
11 | g.2777960G>T | CA2612010967 | KCNQ1 | c.1376-16G>T (n.1376-16G>T) c.1193-16G>T (n.1193-16G>T) c.1733-16G>T (n.1733-16G>T) c.1352-16G>T (n.1352-16G>T) c.137-16G>T (n.137-16G>T) c.839-16G>T (n.839-16G>T) n.240-16G>T | gnomAD v4 |
11 | g.2777963T>C | CA1139661784 | KCNQ1 | c.1376-13T>C (n.1376-13T>C) c.1193-13T>C (n.1193-13T>C) c.1733-13T>C (n.1733-13T>C) c.1352-13T>C (n.1352-13T>C) c.137-13T>C (n.137-13T>C) c.839-13T>C (n.839-13T>C) n.240-13T>C | ClinVar dbSNP |
11 | g.2777963T= | CA1948315079 | KCNQ1 | c.1376-13T= (n.1376-13T=) c.1193-13T= (n.1193-13T=) c.1733-13T= (n.1733-13T=) c.1352-13T= (n.1352-13T=) c.137-13T= (n.137-13T=) c.839-13T= (n.839-13T=) n.240-13T= | |
11 | g.2777964T>A | CA1948315081 | KCNQ1 | c.1376-12T>A (n.1376-12T>A) c.1193-12T>A (n.1193-12T>A) c.1733-12T>A (n.1733-12T>A) c.1352-12T>A (n.1352-12T>A) c.137-12T>A (n.137-12T>A) c.839-12T>A (n.839-12T>A) n.240-12T>A | dbSNP |
11 | g.2777964T= | CA1948315080 | KCNQ1 | c.1376-12T= (n.1376-12T=) c.1193-12T= (n.1193-12T=) c.1733-12T= (n.1733-12T=) c.1352-12T= (n.1352-12T=) c.137-12T= (n.137-12T=) c.839-12T= (n.839-12T=) n.240-12T= | |
11 | g.2777965A>G | CA2612010968 | KCNQ1 | c.1376-11A>G (n.1376-11A>G) c.1193-11A>G (n.1193-11A>G) c.1733-11A>G (n.1733-11A>G) c.1352-11A>G (n.1352-11A>G) c.137-11A>G (n.137-11A>G) c.839-11A>G (n.839-11A>G) n.240-11A>G | gnomAD v4 |
11 | g.2777966T>A | CA2574728526 | KCNQ1 | c.1376-10T>A (n.1376-10T>A) c.1193-10T>A (n.1193-10T>A) c.1733-10T>A (n.1733-10T>A) c.1352-10T>A (n.1352-10T>A) c.137-10T>A (n.137-10T>A) c.839-10T>A (n.839-10T>A) n.240-10T>A | ClinVar |
11 | g.2777966T>C | CA2723269853 | KCNQ1 | c.1376-10T>C (n.1376-10T>C) c.1193-10T>C (n.1193-10T>C) c.1733-10T>C (n.1733-10T>C) c.1352-10T>C (n.1352-10T>C) c.137-10T>C (n.137-10T>C) c.839-10T>C (n.839-10T>C) n.240-10T>C | dbSNP |
11 | g.2777967C>A | CA216321905 | KCNQ1 | c.1376-9C>A (n.1376-9C>A) c.1193-9C>A (n.1193-9C>A) c.1733-9C>A (n.1733-9C>A) c.1352-9C>A (n.1352-9C>A) c.137-9C>A (n.137-9C>A) c.839-9C>A (n.839-9C>A) n.240-9C>A | ClinVar dbSNP |
11 | g.2777967C= | CA1948315082 | KCNQ1 | c.1376-9C= (n.1376-9C=) c.1193-9C= (n.1193-9C=) c.1733-9C= (n.1733-9C=) c.1352-9C= (n.1352-9C=) c.137-9C= (n.137-9C=) c.839-9C= (n.839-9C=) n.240-9C= | |
11 | g.2777967C>G | CA2574728527 | KCNQ1 | c.1376-9C>G (n.1376-9C>G) c.1193-9C>G (n.1193-9C>G) c.1733-9C>G (n.1733-9C>G) c.1352-9C>G (n.1352-9C>G) c.137-9C>G (n.137-9C>G) c.839-9C>G (n.839-9C>G) n.240-9C>G | ClinVar gnomAD v4 |
11 | g.2777967C>T | CA597110478 | KCNQ1 | c.1376-9C>T (n.1376-9C>T) c.1193-9C>T (n.1193-9C>T) c.1733-9C>T (n.1733-9C>T) c.1352-9C>T (n.1352-9C>T) c.137-9C>T (n.137-9C>T) c.839-9C>T (n.839-9C>T) n.240-9C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2777968C= | CA1948315083 | KCNQ1 | c.1376-8C= (n.1376-8C=) c.1193-8C= (n.1193-8C=) c.1733-8C= (n.1733-8C=) c.1352-8C= (n.1352-8C=) c.137-8C= (n.137-8C=) c.839-8C= (n.839-8C=) n.240-8C= | |
11 | g.2777968C>T | CA675198212 | KCNQ1 | c.1376-8C>T (n.1376-8C>T) c.1193-8C>T (n.1193-8C>T) c.1733-8C>T (n.1733-8C>T) c.1352-8C>T (n.1352-8C>T) c.137-8C>T (n.137-8C>T) c.839-8C>T (n.839-8C>T) n.240-8C>T | ClinVar dbSNP gnomAD v4 |
11 | g.2777969C= | CA1948315084 | KCNQ1 | c.1376-7C= (n.1376-7C=) c.1193-7C= (n.1193-7C=) c.1733-7C= (n.1733-7C=) c.1352-7C= (n.1352-7C=) c.137-7C= (n.137-7C=) c.839-7C= (n.839-7C=) n.240-7C= | |
11 | g.2777969C>G | CA032527 | KCNQ1 | c.1376-7C>G (n.1376-7C>G) c.1193-7C>G (n.1193-7C>G) c.1733-7C>G (n.1733-7C>G) c.1352-7C>G (n.1352-7C>G) c.137-7C>G (n.137-7C>G) c.839-7C>G (n.839-7C>G) n.240-7C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777969C>T | CA934480042 | KCNQ1 | c.1376-7C>T (n.1376-7C>T) c.1193-7C>T (n.1193-7C>T) c.1733-7C>T (n.1733-7C>T) c.1352-7C>T (n.1352-7C>T) c.137-7C>T (n.137-7C>T) c.839-7C>T (n.839-7C>T) n.240-7C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2777971C>T | CA2612010973 | KCNQ1 | c.1376-5C>T (n.1376-5C>T) c.1193-5C>T (n.1193-5C>T) c.1733-5C>T (n.1733-5C>T) c.1352-5C>T (n.1352-5C>T) c.137-5C>T (n.137-5C>T) c.839-5C>T (n.839-5C>T) n.240-5C>T | gnomAD v4 |
11 | g.2777972A= | CA1948315085 | KCNQ1 | c.1376-4A= (n.1376-4A=) c.1193-4A= (n.1193-4A=) c.1733-4A= (n.1733-4A=) c.1352-4A= (n.1352-4A=) c.137-4A= (n.137-4A=) c.839-4A= (n.839-4A=) n.240-4A= | |
11 | g.2777972A>G | CA597110479 | KCNQ1 | c.1376-4A>G (n.1376-4A>G) c.1193-4A>G (n.1193-4A>G) c.1733-4A>G (n.1733-4A>G) c.1352-4A>G (n.1352-4A>G) c.137-4A>G (n.137-4A>G) c.839-4A>G (n.839-4A>G) n.240-4A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2777973T>A | CA2723067893 | KCNQ1 | c.1376-3T>A (n.1376-3T>A) c.1193-3T>A (n.1193-3T>A) c.1733-3T>A (n.1733-3T>A) c.1352-3T>A (n.1352-3T>A) c.137-3T>A (n.137-3T>A) c.839-3T>A (n.839-3T>A) n.240-3T>A | dbSNP |
11 | g.2777973T>C | CA032470 | KCNQ1 | c.1376-3T>C (n.1376-3T>C) c.1193-3T>C (n.1193-3T>C) c.1733-3T>C (n.1733-3T>C) c.1352-3T>C (n.1352-3T>C) c.137-3T>C (n.137-3T>C) c.839-3T>C (n.839-3T>C) n.240-3T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777973T= | CA1948315086 | KCNQ1 | c.1376-3T= (n.1376-3T=) c.1193-3T= (n.1193-3T=) c.1733-3T= (n.1733-3T=) c.1352-3T= (n.1352-3T=) c.137-3T= (n.137-3T=) c.839-3T= (n.839-3T=) n.240-3T= | |
11 | g.2777974A>C | CA379139557 | KCNQ1 | c.1376-2A>C (n.1376-2A>C) c.1193-2A>C (n.1193-2A>C) c.1733-2A>C (n.1733-2A>C) c.1352-2A>C (n.1352-2A>C) c.137-2A>C (n.137-2A>C) c.839-2A>C (n.839-2A>C) n.240-2A>C | |
11 | g.2777974A>G | CA379139559 | KCNQ1 | c.1376-2A>G (n.1376-2A>G) c.1193-2A>G (n.1193-2A>G) c.1733-2A>G (n.1733-2A>G) c.1352-2A>G (n.1352-2A>G) c.137-2A>G (n.137-2A>G) c.839-2A>G (n.839-2A>G) n.240-2A>G | ClinVar dbSNP gnomAD v4 |
11 | g.2777974A>T | CA379139561 | KCNQ1 | c.1376-2A>T (n.1376-2A>T) c.1193-2A>T (n.1193-2A>T) c.1733-2A>T (n.1733-2A>T) c.1352-2A>T (n.1352-2A>T) c.137-2A>T (n.137-2A>T) c.839-2A>T (n.839-2A>T) n.240-2A>T | |
11 | g.2777977_2777981del | CA2695213088 | KCNQ1 | c.1377_1381del c.1194_1198del c.1734_1738del c.1353_1357del c.138_142del c.840_844del n.241_245del | |
11 | g.2777975G>A | CA379139563 | KCNQ1 | c.1376-1G>A (n.1376-1G>A) c.1193-1G>A (n.1193-1G>A) c.1733-1G>A (n.1733-1G>A) c.1352-1G>A (n.1352-1G>A) c.137-1G>A (n.137-1G>A) c.839-1G>A (n.839-1G>A) n.240-1G>A | |
11 | g.2777975G>C | CA10575755 | KCNQ1 | c.1376-1G>C (n.1376-1G>C) c.1193-1G>C (n.1193-1G>C) c.1733-1G>C (n.1733-1G>C) c.1352-1G>C (n.1352-1G>C) c.137-1G>C (n.137-1G>C) c.839-1G>C (n.839-1G>C) n.240-1G>C | ClinVar dbSNP |
11 | g.2777975G= | CA1948315087 | KCNQ1 | c.1376-1G= (n.1376-1G=) c.1193-1G= (n.1193-1G=) c.1733-1G= (n.1733-1G=) c.1352-1G= (n.1352-1G=) c.137-1G= (n.137-1G=) c.839-1G= (n.839-1G=) n.240-1G= | |
11 | g.2777975G>T | CA379139565 | KCNQ1 | c.1376-1G>T (n.1376-1G>T) c.1193-1G>T (n.1193-1G>T) c.1733-1G>T (n.1733-1G>T) c.1352-1G>T (n.1352-1G>T) c.137-1G>T (n.137-1G>T) c.839-1G>T (n.839-1G>T) n.240-1G>T | |
11 | g.2777976A= | CA1948315088 | KCNQ1 | c.1376A= (p.Glu459=) c.1193A= (p.Glu398=) c.1733A= (p.Glu578=) c.1352A= (p.Glu451=) c.137A= (p.Glu46=) c.839A= (p.Glu280=) n.240A= | |
11 | g.2777976A>C | CA379139577 | KCNQ1 | c.1376A>C (p.Glu459Ala) c.1193A>C (p.Glu398Ala) c.1733A>C (p.Glu578Ala) c.1352A>C (p.Glu451Ala) c.137A>C (p.Glu46Ala) c.839A>C (p.Glu280Ala) n.240A>C | |
11 | g.2777976A>G | CA379139579 | KCNQ1 | c.1376A>G (p.Glu459Gly) c.1193A>G (p.Glu398Gly) c.1733A>G (p.Glu578Gly) c.1352A>G (p.Glu451Gly) c.137A>G (p.Glu46Gly) c.839A>G (p.Glu280Gly) n.240A>G | dbSNP |
11 | g.2777976A>T | CA379139580 | KCNQ1 | c.1376A>T (p.Glu459Val) c.1193A>T (p.Glu398Val) c.1733A>T (p.Glu578Val) c.1352A>T (p.Glu451Val) c.137A>T (p.Glu46Val) c.839A>T (p.Glu280Val) n.240A>T | |
11 | g.2777979dup | CA2840840841 | KCNQ1 | c.1379dup (p.Ser461GlufsTer?) c.1196dup (p.Ser400GlufsTer?) c.1736dup (p.Ser580GlufsTer?) c.1355dup (p.Ser453GlufsTer?) c.140dup (p.Ser48GlufsTer?) c.842dup (p.Ser282GlufsTer?) n.243dup | |
11 | g.2777977A>C | CA379139583 | KCNQ1 | c.1377A>C (p.Glu459Asp) c.1194A>C (p.Glu398Asp) c.1734A>C (p.Glu578Asp) c.1353A>C (p.Glu451Asp) c.138A>C (p.Glu46Asp) c.840A>C (p.Glu280Asp) n.241A>C | |
11 | g.2777977A>G | CA472465494 | KCNQ1 | c.1377A>G (p.Glu459=) c.1194A>G (p.Glu398=) c.1734A>G (p.Glu578=) c.1353A>G (p.Glu451=) c.138A>G (p.Glu46=) c.840A>G (p.Glu280=) n.241A>G | |
11 | g.2777977A>T | CA379139584 | KCNQ1 | c.1377A>T (p.Glu459Asp) c.1194A>T (p.Glu398Asp) c.1734A>T (p.Glu578Asp) c.1353A>T (p.Glu451Asp) c.138A>T (p.Glu46Asp) c.840A>T (p.Glu280Asp) n.241A>T | |
11 | g.2777978A>C | CA379139587 | KCNQ1 | c.1378A>C (p.Lys460Gln) c.1195A>C (p.Lys399Gln) c.1735A>C (p.Lys579Gln) c.1354A>C (p.Lys452Gln) c.139A>C (p.Lys47Gln) c.841A>C (p.Lys281Gln) n.242A>C | gnomAD v4 |
11 | g.2777978A>G | CA379139588 | KCNQ1 | c.1378A>G (p.Lys460Glu) c.1195A>G (p.Lys399Glu) c.1735A>G (p.Lys579Glu) c.1354A>G (p.Lys452Glu) c.139A>G (p.Lys47Glu) c.841A>G (p.Lys281Glu) n.242A>G | |
11 | g.2777978A>T | CA379139590 | KCNQ1 | c.1378A>T (p.Lys460Ter) c.1195A>T (p.Lys399Ter) c.1735A>T (p.Lys579Ter) c.1354A>T (p.Lys452Ter) c.139A>T (p.Lys47Ter) c.841A>T (p.Lys281Ter) n.242A>T | |
11 | g.2777979A>C | CA379139591 | KCNQ1 | c.1379A>C (p.Lys460Thr) c.1196A>C (p.Lys399Thr) c.1736A>C (p.Lys579Thr) c.1355A>C (p.Lys452Thr) c.140A>C (p.Lys47Thr) c.842A>C (p.Lys281Thr) n.243A>C | |
11 | g.2777979A>G | CA379139593 | KCNQ1 | c.1379A>G (p.Lys460Arg) c.1196A>G (p.Lys399Arg) c.1736A>G (p.Lys579Arg) c.1355A>G (p.Lys452Arg) c.140A>G (p.Lys47Arg) c.842A>G (p.Lys281Arg) n.243A>G | |
11 | g.2777979A>T | CA379139594 | KCNQ1 | c.1379A>T (p.Lys460Met) c.1196A>T (p.Lys399Met) c.1736A>T (p.Lys579Met) c.1355A>T (p.Lys452Met) c.140A>T (p.Lys47Met) c.842A>T (p.Lys281Met) n.243A>T | |
11 | g.2777980G>A | CA032552 | KCNQ1 | c.1380G>A (p.Lys460=) c.1197G>A (p.Lys399=) c.1737G>A (p.Lys579=) c.1356G>A (p.Lys452=) c.141G>A (p.Lys47=) c.843G>A (p.Lys281=) n.244G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2777980G>C | CA379139595 | KCNQ1 | c.1380G>C (p.Lys460Asn) c.1197G>C (p.Lys399Asn) c.1737G>C (p.Lys579Asn) c.1356G>C (p.Lys452Asn) c.141G>C (p.Lys47Asn) c.843G>C (p.Lys281Asn) n.244G>C | |
11 | g.2777980G= | CA1948315089 | KCNQ1 | c.1380G= (p.Lys460=) c.1197G= (p.Lys399=) c.1737G= (p.Lys579=) c.1356G= (p.Lys452=) c.141G= (p.Lys47=) c.843G= (p.Lys281=) n.244G= | |
11 | g.2777980G>T | CA379139596 | KCNQ1 | c.1380G>T (p.Lys460Asn) c.1197G>T (p.Lys399Asn) c.1737G>T (p.Lys579Asn) c.1356G>T (p.Lys452Asn) c.141G>T (p.Lys47Asn) c.843G>T (p.Lys281Asn) n.244G>T | |
11 | g.2777981A= | CA1948315090 | KCNQ1 | c.1381A= (p.Ser461=) c.1198A= (p.Ser400=) c.1738A= (p.Ser580=) c.1357A= (p.Ser453=) c.142A= (p.Ser48=) c.844A= (p.Ser282=) n.245A= | |
11 | g.2777981A>C | CA379139598 | KCNQ1 | c.1381A>C (p.Ser461Arg) c.1198A>C (p.Ser400Arg) c.1738A>C (p.Ser580Arg) c.1357A>C (p.Ser453Arg) c.142A>C (p.Ser48Arg) c.844A>C (p.Ser282Arg) n.245A>C | |
11 | g.2777981A>G | CA216321923 | KCNQ1 | c.1381A>G (p.Ser461Gly) c.1198A>G (p.Ser400Gly) c.1738A>G (p.Ser580Gly) c.1357A>G (p.Ser453Gly) c.142A>G (p.Ser48Gly) c.844A>G (p.Ser282Gly) n.245A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2777981A>T | CA379139601 | KCNQ1 | c.1381A>T (p.Ser461Cys) c.1198A>T (p.Ser400Cys) c.1738A>T (p.Ser580Cys) c.1357A>T (p.Ser453Cys) c.142A>T (p.Ser48Cys) c.844A>T (p.Ser282Cys) n.245A>T | |
11 | g.2777982G>A | CA379139604 | KCNQ1 | c.1382G>A (p.Ser461Asn) c.1199G>A (p.Ser400Asn) c.1739G>A (p.Ser580Asn) c.1358G>A (p.Ser453Asn) c.143G>A (p.Ser48Asn) c.845G>A (p.Ser282Asn) n.246G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2777982G>C | CA379139605 | KCNQ1 | c.1382G>C (p.Ser461Thr) c.1199G>C (p.Ser400Thr) c.1739G>C (p.Ser580Thr) c.1358G>C (p.Ser453Thr) c.143G>C (p.Ser48Thr) c.845G>C (p.Ser282Thr) n.246G>C | |
11 | g.2777982G= | CA1948315091 | KCNQ1 | c.1382G= (p.Ser461=) c.1199G= (p.Ser400=) c.1739G= (p.Ser580=) c.1358G= (p.Ser453=) c.143G= (p.Ser48=) c.845G= (p.Ser282=) n.246G= | |
11 | g.2777982G>T | CA379139602 | KCNQ1 | c.1382G>T (p.Ser461Ile) c.1199G>T (p.Ser400Ile) c.1739G>T (p.Ser580Ile) c.1358G>T (p.Ser453Ile) c.143G>T (p.Ser48Ile) c.845G>T (p.Ser282Ile) n.246G>T | |
11 | g.2777983C>A | CA379139609 | KCNQ1 | c.1383C>A (p.Ser461Arg) c.1200C>A (p.Ser400Arg) c.1740C>A (p.Ser580Arg) c.1359C>A (p.Ser453Arg) c.144C>A (p.Ser48Arg) c.846C>A (p.Ser282Arg) n.247C>A | |
11 | g.2777983C>G | CA379139608 | KCNQ1 | c.1383C>G (p.Ser461Arg) c.1200C>G (p.Ser400Arg) c.1740C>G (p.Ser580Arg) c.1359C>G (p.Ser453Arg) c.144C>G (p.Ser48Arg) c.846C>G (p.Ser282Arg) n.247C>G | |
11 | g.2777983C>T | CA472465514 | KCNQ1 | c.1383C>T (p.Ser461=) c.1200C>T (p.Ser400=) c.1740C>T (p.Ser580=) c.1359C>T (p.Ser453=) c.144C>T (p.Ser48=) c.846C>T (p.Ser282=) n.247C>T | |
11 | g.2777984A>C | CA379139611 | KCNQ1 | c.1384A>C (p.Lys462Gln) c.1201A>C (p.Lys401Gln) c.1741A>C (p.Lys581Gln) c.1360A>C (p.Lys454Gln) c.145A>C (p.Lys49Gln) c.847A>C (p.Lys283Gln) n.248A>C | dbSNP |
11 | g.2777984A>G | CA379139612 | KCNQ1 | c.1384A>G (p.Lys462Glu) c.1201A>G (p.Lys401Glu) c.1741A>G (p.Lys581Glu) c.1360A>G (p.Lys454Glu) c.145A>G (p.Lys49Glu) c.847A>G (p.Lys283Glu) n.248A>G | |
11 | g.2777984A>T | CA379139613 | KCNQ1 | c.1384A>T (p.Lys462Ter) c.1201A>T (p.Lys401Ter) c.1741A>T (p.Lys581Ter) c.1360A>T (p.Lys454Ter) c.145A>T (p.Lys49Ter) c.847A>T (p.Lys283Ter) n.248A>T | |
11 | g.2777985A>C | CA379139616 | KCNQ1 | c.1385A>C (p.Lys462Thr) c.1202A>C (p.Lys401Thr) c.1742A>C (p.Lys581Thr) c.1361A>C (p.Lys454Thr) c.146A>C (p.Lys49Thr) c.848A>C (p.Lys283Thr) n.249A>C | |
11 | g.2777985A>G | CA379139617 | KCNQ1 | c.1385A>G (p.Lys462Arg) c.1202A>G (p.Lys401Arg) c.1742A>G (p.Lys581Arg) c.1361A>G (p.Lys454Arg) c.146A>G (p.Lys49Arg) c.848A>G (p.Lys283Arg) n.249A>G | |
11 | g.2777985A>T | CA379139619 | KCNQ1 | c.1385A>T (p.Lys462Met) c.1202A>T (p.Lys401Met) c.1742A>T (p.Lys581Met) c.1361A>T (p.Lys454Met) c.146A>T (p.Lys49Met) c.848A>T (p.Lys283Met) n.249A>T | |
11 | g.2777986G>A | CA472465524 | KCNQ1 | c.1386G>A (p.Lys462=) c.1203G>A (p.Lys401=) c.1743G>A (p.Lys581=) c.1362G>A (p.Lys454=) c.147G>A (p.Lys49=) c.849G>A (p.Lys283=) n.250G>A | |
11 | g.2777986G>C | CA379139621 | KCNQ1 | c.1386G>C (p.Lys462Asn) c.1203G>C (p.Lys401Asn) c.1743G>C (p.Lys581Asn) c.1362G>C (p.Lys454Asn) c.147G>C (p.Lys49Asn) c.849G>C (p.Lys283Asn) n.250G>C | |
11 | g.2777986G>T | CA379139622 | KCNQ1 | c.1386G>T (p.Lys462Asn) c.1203G>T (p.Lys401Asn) c.1743G>T (p.Lys581Asn) c.1362G>T (p.Lys454Asn) c.147G>T (p.Lys49Asn) c.849G>T (p.Lys283Asn) n.250G>T | |
11 | g.2777987G>A | CA379139624 | KCNQ1 | c.1387G>A (p.Asp463Asn) c.1204G>A (p.Asp402Asn) c.1744G>A (p.Asp582Asn) c.1363G>A (p.Asp455Asn) c.148G>A (p.Asp50Asn) c.850G>A (p.Asp284Asn) n.251G>A | |
11 | g.2777987G>C | CA379139626 | KCNQ1 | c.1387G>C (p.Asp463His) c.1204G>C (p.Asp402His) c.1744G>C (p.Asp582His) c.1363G>C (p.Asp455His) c.148G>C (p.Asp50His) c.850G>C (p.Asp284His) n.251G>C | gnomAD v4 |
11 | g.2777987G>T | CA379139628 | KCNQ1 | c.1387G>T (p.Asp463Tyr) c.1204G>T (p.Asp402Tyr) c.1744G>T (p.Asp582Tyr) c.1363G>T (p.Asp455Tyr) c.148G>T (p.Asp50Tyr) c.850G>T (p.Asp284Tyr) n.251G>T | |
11 | g.2777988A>C | CA379139634 | KCNQ1 | c.1388A>C (p.Asp463Ala) c.1205A>C (p.Asp402Ala) c.1745A>C (p.Asp582Ala) c.1364A>C (p.Asp455Ala) c.149A>C (p.Asp50Ala) c.851A>C (p.Asp284Ala) n.252A>C | |
11 | g.2777988A>G | CA379139633 | KCNQ1 | c.1388A>G (p.Asp463Gly) c.1205A>G (p.Asp402Gly) c.1745A>G (p.Asp582Gly) c.1364A>G (p.Asp455Gly) c.149A>G (p.Asp50Gly) c.851A>G (p.Asp284Gly) n.252A>G | |
11 | g.2777988A>T | CA379139630 | KCNQ1 | c.1388A>T (p.Asp463Val) c.1205A>T (p.Asp402Val) c.1745A>T (p.Asp582Val) c.1364A>T (p.Asp455Val) c.149A>T (p.Asp50Val) c.851A>T (p.Asp284Val) n.252A>T | |
11 | g.2777989T>A | CA379139636 | KCNQ1 | c.1389T>A (p.Asp463Glu) c.1206T>A (p.Asp402Glu) c.1746T>A (p.Asp582Glu) c.1365T>A (p.Asp455Glu) c.150T>A (p.Asp50Glu) c.852T>A (p.Asp284Glu) n.253T>A | |
11 | g.2777989T>C | CA032569 | KCNQ1 | c.1389T>C (p.Asp463=) c.1206T>C (p.Asp402=) c.1746T>C (p.Asp582=) c.1365T>C (p.Asp455=) c.150T>C (p.Asp50=) c.852T>C (p.Asp284=) n.253T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777989T>G | CA379139638 | KCNQ1 | c.1389T>G (p.Asp463Glu) c.1206T>G (p.Asp402Glu) c.1746T>G (p.Asp582Glu) c.1365T>G (p.Asp455Glu) c.150T>G (p.Asp50Glu) c.852T>G (p.Asp284Glu) n.253T>G | |
11 | g.2777989T= | CA1948315092 | KCNQ1 | c.1389T= (p.Asp463=) c.1206T= (p.Asp402=) c.1746T= (p.Asp582=) c.1365T= (p.Asp455=) c.150T= (p.Asp50=) c.852T= (p.Asp284=) n.253T= | |
11 | g.2777990C>A | CA379139641 | KCNQ1 | c.1390C>A (p.Arg464Ser) c.1207C>A (p.Arg403Ser) c.1747C>A (p.Arg583Ser) c.1366C>A (p.Arg456Ser) c.151C>A (p.Arg51Ser) c.853C>A (p.Arg285Ser) n.254C>A | ClinVar dbSNP gnomAD v4 |
11 | g.2777990C= | CA1948315093 | KCNQ1 | c.1390C= (p.Arg464=) c.1207C= (p.Arg403=) c.1747C= (p.Arg583=) c.1366C= (p.Arg456=) c.151C= (p.Arg51=) c.853C= (p.Arg285=) n.254C= | |
11 | g.2777990C>G | CA379139643 | KCNQ1 | c.1390C>G (p.Arg464Gly) c.1207C>G (p.Arg403Gly) c.1747C>G (p.Arg583Gly) c.1366C>G (p.Arg456Gly) c.151C>G (p.Arg51Gly) c.853C>G (p.Arg285Gly) n.254C>G | ClinVar |
11 | g.2777990C>T | CA006297 | KCNQ1 | c.1390C>T (p.Arg464Cys) c.1207C>T (p.Arg403Cys) c.1747C>T (p.Arg583Cys) c.1366C>T (p.Arg456Cys) c.151C>T (p.Arg51Cys) c.853C>T (p.Arg285Cys) n.254C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2777991G>A | CA006304 | KCNQ1 | c.1391G>A (p.Arg464His) c.1208G>A (p.Arg403His) c.1748G>A (p.Arg583His) c.1367G>A (p.Arg456His) c.152G>A (p.Arg51His) c.854G>A (p.Arg285His) n.255G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777991G>C | CA379139646 | KCNQ1 | c.1391G>C (p.Arg464Pro) c.1208G>C (p.Arg403Pro) c.1748G>C (p.Arg583Pro) c.1367G>C (p.Arg456Pro) c.152G>C (p.Arg51Pro) c.854G>C (p.Arg285Pro) n.255G>C | dbSNP |
11 | g.2777991G= | CA1948315094 | KCNQ1 | c.1391G= (p.Arg464=) c.1208G= (p.Arg403=) c.1748G= (p.Arg583=) c.1367G= (p.Arg456=) c.152G= (p.Arg51=) c.854G= (p.Arg285=) n.255G= | |
11 | g.2777991G>T | CA379139648 | KCNQ1 | c.1391G>T (p.Arg464Leu) c.1208G>T (p.Arg403Leu) c.1748G>T (p.Arg583Leu) c.1367G>T (p.Arg456Leu) c.152G>T (p.Arg51Leu) c.854G>T (p.Arg285Leu) n.255G>T | |
11 | g.2777992C>A | CA472465541 | KCNQ1 | c.1392C>A (p.Arg464=) c.1209C>A (p.Arg403=) c.1749C>A (p.Arg583=) c.1368C>A (p.Arg456=) c.153C>A (p.Arg51=) c.855C>A (p.Arg285=) n.256C>A | |
11 | g.2777992C= | CA1948315095 | KCNQ1 | c.1392C= (p.Arg464=) c.1209C= (p.Arg403=) c.1749C= (p.Arg583=) c.1368C= (p.Arg456=) c.153C= (p.Arg51=) c.855C= (p.Arg285=) n.256C= | |
11 | g.2777992C>G | CA472465542 | KCNQ1 | c.1392C>G (p.Arg464=) c.1209C>G (p.Arg403=) c.1749C>G (p.Arg583=) c.1368C>G (p.Arg456=) c.153C>G (p.Arg51=) c.855C>G (p.Arg285=) n.256C>G | |
11 | g.2777992C>T | CA006310 | KCNQ1 | c.1392C>T (p.Arg464=) c.1209C>T (p.Arg403=) c.1749C>T (p.Arg583=) c.1368C>T (p.Arg456=) c.153C>T (p.Arg51=) c.855C>T (p.Arg285=) n.256C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777993G>A | CA006316 | KCNQ1 | c.1393G>A (p.Gly465Ser) c.1210G>A (p.Gly404Ser) c.1750G>A (p.Gly584Ser) c.1369G>A (p.Gly457Ser) c.154G>A (p.Gly52Ser) c.856G>A (p.Gly286Ser) n.257G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2777993G>C | CA379139652 | KCNQ1 | c.1393G>C (p.Gly465Arg) c.1210G>C (p.Gly404Arg) c.1750G>C (p.Gly584Arg) c.1369G>C (p.Gly457Arg) c.154G>C (p.Gly52Arg) c.856G>C (p.Gly286Arg) n.257G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2777993G= | CA1948315096 | KCNQ1 | c.1393G= (p.Gly465=) c.1210G= (p.Gly404=) c.1750G= (p.Gly584=) c.1369G= (p.Gly457=) c.154G= (p.Gly52=) c.856G= (p.Gly286=) n.257G= | |
11 | g.2777993G>T | CA379139654 | KCNQ1 | c.1393G>T (p.Gly465Cys) c.1210G>T (p.Gly404Cys) c.1750G>T (p.Gly584Cys) c.1369G>T (p.Gly457Cys) c.154G>T (p.Gly52Cys) c.856G>T (p.Gly286Cys) n.257G>T | |
11 | g.2777993_2777996delinsGGCA | CA1948315097 | KCNQ1 | c.1393_1396delinsGGCA (p.Gly465=) c.1210_1213delinsGGCA (p.Gly404=) c.1750_1753delinsGGCA (p.Gly584=) c.1369_1372delinsGGCA (p.Gly457=) c.154_157delinsGGCA (p.Gly52=) c.856_859delinsGGCA (p.Gly286=) n.257_260delinsGGCA | |
11 | g.2777994G>A | CA379139661 | KCNQ1 | c.1394G>A (p.Gly465Asp) c.1211G>A (p.Gly404Asp) c.1751G>A (p.Gly584Asp) c.1370G>A (p.Gly457Asp) c.155G>A (p.Gly52Asp) c.857G>A (p.Gly286Asp) n.258G>A | |
11 | g.2777994G>C | CA379139659 | KCNQ1 | c.1394G>C (p.Gly465Ala) c.1211G>C (p.Gly404Ala) c.1751G>C (p.Gly584Ala) c.1370G>C (p.Gly457Ala) c.155G>C (p.Gly52Ala) c.857G>C (p.Gly286Ala) n.258G>C | |
11 | g.2777994G>T | CA379139657 | KCNQ1 | c.1394G>T (p.Gly465Val) c.1211G>T (p.Gly404Val) c.1751G>T (p.Gly584Val) c.1370G>T (p.Gly457Val) c.155G>T (p.Gly52Val) c.857G>T (p.Gly286Val) n.258G>T | gnomAD v4 |
11 | g.2777997_2777999del | CA1948315098 | KCNQ1 | c.1397_1399del (p.Ser466del) c.1214_1216del (p.Ser405del) c.1754_1756del (p.Ser585del) c.1373_1375del (p.Ser458del) c.158_160del (p.Ser53del) c.860_862del (p.Ser287del) n.261_263del | dbSNP |
11 | g.2777995C>A | CA472465551 | KCNQ1 | c.1395C>A (p.Gly465=) c.1212C>A (p.Gly404=) c.1752C>A (p.Gly584=) c.1371C>A (p.Gly457=) c.156C>A (p.Gly52=) c.858C>A (p.Gly286=) n.259C>A | |
11 | g.2777995C>G | CA472465553 | KCNQ1 | c.1395C>G (p.Gly465=) c.1212C>G (p.Gly404=) c.1752C>G (p.Gly584=) c.1371C>G (p.Gly457=) c.156C>G (p.Gly52=) c.858C>G (p.Gly286=) n.259C>G | |
11 | g.2777995C>T | CA472465550 | KCNQ1 | c.1395C>T (p.Gly465=) c.1212C>T (p.Gly404=) c.1752C>T (p.Gly584=) c.1371C>T (p.Gly457=) c.156C>T (p.Gly52=) c.858C>T (p.Gly286=) n.259C>T | |
11 | g.2777995dup | CA2839385711 | KCNQ1 | c.1395dup (p.Ser466GlnfsTer?) c.1212dup (p.Ser405GlnfsTer?) c.1752dup (p.Ser585GlnfsTer?) c.1371dup (p.Ser458GlnfsTer?) c.156dup (p.Ser53GlnfsTer?) c.858dup (p.Ser287GlnfsTer?) n.259dup | |
11 | g.2777996A>C | CA379139668 | KCNQ1 | c.1396A>C (p.Ser466Arg) c.1213A>C (p.Ser405Arg) c.1753A>C (p.Ser585Arg) c.1372A>C (p.Ser458Arg) c.157A>C (p.Ser53Arg) c.859A>C (p.Ser287Arg) n.260A>C | |
11 | g.2777996A>G | CA379139664 | KCNQ1 | c.1396A>G (p.Ser466Gly) c.1213A>G (p.Ser405Gly) c.1753A>G (p.Ser585Gly) c.1372A>G (p.Ser458Gly) c.157A>G (p.Ser53Gly) c.859A>G (p.Ser287Gly) n.260A>G | |
11 | g.2777996A>T | CA379139665 | KCNQ1 | c.1396A>T (p.Ser466Cys) c.1213A>T (p.Ser405Cys) c.1753A>T (p.Ser585Cys) c.1372A>T (p.Ser458Cys) c.157A>T (p.Ser53Cys) c.859A>T (p.Ser287Cys) n.260A>T | |
11 | g.2777997G>A | CA032645 | KCNQ1 | c.1397G>A (p.Ser466Asn) c.1214G>A (p.Ser405Asn) c.1754G>A (p.Ser585Asn) c.1373G>A (p.Ser458Asn) c.158G>A (p.Ser53Asn) c.860G>A (p.Ser287Asn) n.261G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2777997G>C | CA379139671 | KCNQ1 | c.1397G>C (p.Ser466Thr) c.1214G>C (p.Ser405Thr) c.1754G>C (p.Ser585Thr) c.1373G>C (p.Ser458Thr) c.158G>C (p.Ser53Thr) c.860G>C (p.Ser287Thr) n.261G>C | |
11 | g.2777997G= | CA1948315099 | KCNQ1 | c.1397G= (p.Ser466=) c.1214G= (p.Ser405=) c.1754G= (p.Ser585=) c.1373G= (p.Ser458=) c.158G= (p.Ser53=) c.860G= (p.Ser287=) n.261G= | |
11 | g.2777997G>T | CA379139673 | KCNQ1 | c.1397G>T (p.Ser466Ile) c.1214G>T (p.Ser405Ile) c.1754G>T (p.Ser585Ile) c.1373G>T (p.Ser458Ile) c.158G>T (p.Ser53Ile) c.860G>T (p.Ser287Ile) n.261G>T | |
11 | g.2777998C>A | CA379139676 | KCNQ1 | c.1398C>A (p.Ser466Arg) c.1215C>A (p.Ser405Arg) c.1755C>A (p.Ser585Arg) c.1374C>A (p.Ser458Arg) c.159C>A (p.Ser53Arg) c.861C>A (p.Ser287Arg) n.262C>A | |
11 | g.2777998C= | CA1948315100 | KCNQ1 | c.1398C= (p.Ser466=) c.1215C= (p.Ser405=) c.1755C= (p.Ser585=) c.1374C= (p.Ser458=) c.159C= (p.Ser53=) c.861C= (p.Ser287=) n.262C= | |
11 | g.2777998C>G | CA379139677 | KCNQ1 | c.1398C>G (p.Ser466Arg) c.1215C>G (p.Ser405Arg) c.1755C>G (p.Ser585Arg) c.1374C>G (p.Ser458Arg) c.159C>G (p.Ser53Arg) c.861C>G (p.Ser287Arg) n.262C>G | ClinVar dbSNP |
11 | g.2777998C>T | CA472465561 | KCNQ1 | c.1398C>T (p.Ser466=) c.1215C>T (p.Ser405=) c.1755C>T (p.Ser585=) c.1374C>T (p.Ser458=) c.159C>T (p.Ser53=) c.861C>T (p.Ser287=) n.262C>T | |
11 | g.2777999A= | CA1948315101 | KCNQ1 | c.1399A= (p.Asn467=) c.1216A= (p.Asn406=) c.1756A= (p.Asn586=) c.1375A= (p.Asn459=) c.160A= (p.Asn54=) c.862A= (p.Asn288=) n.263A= | |
11 | g.2777999A>C | CA379139681 | KCNQ1 | c.1399A>C (p.Asn467His) c.1216A>C (p.Asn406His) c.1756A>C (p.Asn586His) c.1375A>C (p.Asn459His) c.160A>C (p.Asn54His) c.862A>C (p.Asn288His) n.263A>C | |
11 | g.2777999A>G | CA006321 | KCNQ1 | c.1399A>G (p.Asn467Asp) c.1216A>G (p.Asn406Asp) c.1756A>G (p.Asn586Asp) c.1375A>G (p.Asn459Asp) c.160A>G (p.Asn54Asp) c.862A>G (p.Asn288Asp) n.263A>G | ClinVar dbSNP |
11 | g.2777999A>T | CA379139679 | KCNQ1 | c.1399A>T (p.Asn467Tyr) c.1216A>T (p.Asn406Tyr) c.1756A>T (p.Asn586Tyr) c.1375A>T (p.Asn459Tyr) c.160A>T (p.Asn54Tyr) c.862A>T (p.Asn288Tyr) n.263A>T | |
11 | g.2778000A= | CA1948315102 | KCNQ1 | c.1400A= (p.Asn467=) c.1217A= (p.Asn406=) c.1757A= (p.Asn586=) c.1376A= (p.Asn459=) c.161A= (p.Asn54=) c.863A= (p.Asn288=) n.264A= | |
11 | g.2778000A>C | CA379139683 | KCNQ1 | c.1400A>C (p.Asn467Thr) c.1217A>C (p.Asn406Thr) c.1757A>C (p.Asn586Thr) c.1376A>C (p.Asn459Thr) c.161A>C (p.Asn54Thr) c.863A>C (p.Asn288Thr) n.264A>C | |
11 | g.2778000A>G | CA379139685 | KCNQ1 | c.1400A>G (p.Asn467Ser) c.1217A>G (p.Asn406Ser) c.1757A>G (p.Asn586Ser) c.1376A>G (p.Asn459Ser) c.161A>G (p.Asn54Ser) c.863A>G (p.Asn288Ser) n.264A>G | dbSNP gnomAD v4 |
11 | g.2778000A>T | CA379139687 | KCNQ1 | c.1400A>T (p.Asn467Ile) c.1217A>T (p.Asn406Ile) c.1757A>T (p.Asn586Ile) c.1376A>T (p.Asn459Ile) c.161A>T (p.Asn54Ile) c.863A>T (p.Asn288Ile) n.264A>T | |
11 | g.2778001C>A | CA379139689 | KCNQ1 | c.1401C>A (p.Asn467Lys) c.1218C>A (p.Asn406Lys) c.1758C>A (p.Asn586Lys) c.1377C>A (p.Asn459Lys) c.162C>A (p.Asn54Lys) c.864C>A (p.Asn288Lys) n.265C>A | |
11 | g.2778001C>G | CA379139691 | KCNQ1 | c.1401C>G (p.Asn467Lys) c.1218C>G (p.Asn406Lys) c.1758C>G (p.Asn586Lys) c.1377C>G (p.Asn459Lys) c.162C>G (p.Asn54Lys) c.864C>G (p.Asn288Lys) n.265C>G | |
11 | g.2778001C>T | CA472465571 | KCNQ1 | c.1401C>T (p.Asn467=) c.1218C>T (p.Asn406=) c.1758C>T (p.Asn586=) c.1377C>T (p.Asn459=) c.162C>T (p.Asn54=) c.864C>T (p.Asn288=) n.265C>T | |
11 | g.2778002A>C | CA379139693 | KCNQ1 | c.1402A>C (p.Thr468Pro) c.1219A>C (p.Thr407Pro) c.1759A>C (p.Thr587Pro) c.1378A>C (p.Thr460Pro) c.163A>C (p.Thr55Pro) c.865A>C (p.Thr289Pro) n.266A>C | |
11 | g.2778002A>G | CA379139696 | KCNQ1 | c.1402A>G (p.Thr468Ala) c.1219A>G (p.Thr407Ala) c.1759A>G (p.Thr587Ala) c.1378A>G (p.Thr460Ala) c.163A>G (p.Thr55Ala) c.865A>G (p.Thr289Ala) n.266A>G | |
11 | g.2778002A>T | CA379139694 | KCNQ1 | c.1402A>T (p.Thr468Ser) c.1219A>T (p.Thr407Ser) c.1759A>T (p.Thr587Ser) c.1378A>T (p.Thr460Ser) c.163A>T (p.Thr55Ser) c.865A>T (p.Thr289Ser) n.266A>T | |
11 | g.2778003C>A | CA379139698 | KCNQ1 | c.1403C>A (p.Thr468Lys) c.1220C>A (p.Thr407Lys) c.1760C>A (p.Thr587Lys) c.1379C>A (p.Thr460Lys) c.164C>A (p.Thr55Lys) c.866C>A (p.Thr289Lys) n.267C>A | |
11 | g.2778003C= | CA1948315103 | KCNQ1 | c.1403C= (p.Thr468=) c.1220C= (p.Thr407=) c.1760C= (p.Thr587=) c.1379C= (p.Thr460=) c.164C= (p.Thr55=) c.866C= (p.Thr289=) n.267C= | |
11 | g.2778003C>G | CA379139700 | KCNQ1 | c.1403C>G (p.Thr468Arg) c.1220C>G (p.Thr407Arg) c.1760C>G (p.Thr587Arg) c.1379C>G (p.Thr460Arg) c.164C>G (p.Thr55Arg) c.866C>G (p.Thr289Arg) n.267C>G | ClinVar dbSNP |
11 | g.2778003C>T | CA006328 | KCNQ1 | c.1403C>T (p.Thr468Met) c.1220C>T (p.Thr407Met) c.1760C>T (p.Thr587Met) c.1379C>T (p.Thr460Met) c.164C>T (p.Thr55Met) c.866C>T (p.Thr289Met) n.267C>T | ClinVar dbSNP gnomAD v4 |
11 | g.2778004G>A | CA032664 | KCNQ1 | c.1404G>A (p.Thr468=) c.1221G>A (p.Thr407=) c.1761G>A (p.Thr587=) c.1380G>A (p.Thr460=) c.165G>A (p.Thr55=) c.867G>A (p.Thr289=) n.268G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2778004G>C | CA472465587 | KCNQ1 | c.1404G>C (p.Thr468=) c.1221G>C (p.Thr407=) c.1761G>C (p.Thr587=) c.1380G>C (p.Thr460=) c.165G>C (p.Thr55=) c.867G>C (p.Thr289=) n.268G>C | |
11 | g.2778004G= | CA1948315104 | KCNQ1 | c.1404G= (p.Thr468=) c.1221G= (p.Thr407=) c.1761G= (p.Thr587=) c.1380G= (p.Thr460=) c.165G= (p.Thr55=) c.867G= (p.Thr289=) n.268G= | |
11 | g.2778004G>T | CA472465589 | KCNQ1 | c.1404G>T (p.Thr468=) c.1221G>T (p.Thr407=) c.1761G>T (p.Thr587=) c.1380G>T (p.Thr460=) c.165G>T (p.Thr55=) c.867G>T (p.Thr289=) n.268G>T | |
11 | g.2778005A= | CA1948315105 | KCNQ1 | c.1405A= (p.Ile469=) c.1222A= (p.Ile408=) c.1762A= (p.Ile588=) c.1381A= (p.Ile461=) c.166A= (p.Ile56=) c.868A= (p.Ile290=) n.269A= | |
11 | g.2778005A>C | CA379139704 | KCNQ1 | c.1405A>C (p.Ile469Leu) c.1222A>C (p.Ile408Leu) c.1762A>C (p.Ile588Leu) c.1381A>C (p.Ile461Leu) c.166A>C (p.Ile56Leu) c.868A>C (p.Ile290Leu) n.269A>C | |
11 | g.2778005A>G | CA379139706 | KCNQ1 | c.1405A>G (p.Ile469Val) c.1222A>G (p.Ile408Val) c.1762A>G (p.Ile588Val) c.1381A>G (p.Ile461Val) c.166A>G (p.Ile56Val) c.868A>G (p.Ile290Val) n.269A>G | ClinVar dbSNP |
11 | g.2778005A>T | CA006336 | KCNQ1 | c.1405A>T (p.Ile469Phe) c.1222A>T (p.Ile408Phe) c.1762A>T (p.Ile588Phe) c.1381A>T (p.Ile461Phe) c.166A>T (p.Ile56Phe) c.868A>T (p.Ile290Phe) n.269A>T | ClinVar dbSNP |
11 | g.2778006T>A | CA379139709 | KCNQ1 | c.1406T>A (p.Ile469Asn) c.1223T>A (p.Ile408Asn) c.1763T>A (p.Ile588Asn) c.1382T>A (p.Ile461Asn) c.167T>A (p.Ile56Asn) c.869T>A (p.Ile290Asn) n.270T>A | |
11 | g.2778006T>C | CA006341 | KCNQ1 | c.1406T>C (p.Ile469Thr) c.1223T>C (p.Ile408Thr) c.1763T>C (p.Ile588Thr) c.1382T>C (p.Ile461Thr) c.167T>C (p.Ile56Thr) c.869T>C (p.Ile290Thr) n.270T>C | ClinVar dbSNP |
11 | g.2778006T>G | CA379139712 | KCNQ1 | c.1406T>G (p.Ile469Ser) c.1223T>G (p.Ile408Ser) c.1763T>G (p.Ile588Ser) c.1382T>G (p.Ile461Ser) c.167T>G (p.Ile56Ser) c.869T>G (p.Ile290Ser) n.270T>G | |
11 | g.2778006T= | CA1948315106 | KCNQ1 | c.1406T= (p.Ile469=) c.1223T= (p.Ile408=) c.1763T= (p.Ile588=) c.1382T= (p.Ile461=) c.167T= (p.Ile56=) c.869T= (p.Ile290=) n.270T= | |
11 | g.2778007C>A | CA472465594 | KCNQ1 | c.1407C>A (p.Ile469=) c.1224C>A (p.Ile408=) c.1764C>A (p.Ile588=) c.1383C>A (p.Ile461=) c.168C>A (p.Ile56=) c.870C>A (p.Ile290=) n.271C>A | |
11 | g.2778007C= | CA1948315107 | KCNQ1 | c.1407C= (p.Ile469=) c.1224C= (p.Ile408=) c.1764C= (p.Ile588=) c.1383C= (p.Ile461=) c.168C= (p.Ile56=) c.870C= (p.Ile290=) n.271C= | |
11 | g.2778007C>G | CA379139714 | KCNQ1 | c.1407C>G (p.Ile469Met) c.1224C>G (p.Ile408Met) c.1764C>G (p.Ile588Met) c.1383C>G (p.Ile461Met) c.168C>G (p.Ile56Met) c.870C>G (p.Ile290Met) n.271C>G | |
11 | g.2778007C>T | CA216321962 | KCNQ1 | c.1407C>T (p.Ile469=) c.1224C>T (p.Ile408=) c.1764C>T (p.Ile588=) c.1383C>T (p.Ile461=) c.168C>T (p.Ile56=) c.870C>T (p.Ile290=) n.271C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2778008G>A | CA032686 | KCNQ1 | c.1408G>A (p.Gly470Ser) c.1225G>A (p.Gly409Ser) c.1765G>A (p.Gly589Ser) c.1384G>A (p.Gly462Ser) c.169G>A (p.Gly57Ser) c.871G>A (p.Gly291Ser) n.272G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2778008G>C | CA379139720 | KCNQ1 | c.1408G>C (p.Gly470Arg) c.1225G>C (p.Gly409Arg) c.1765G>C (p.Gly589Arg) c.1384G>C (p.Gly462Arg) c.169G>C (p.Gly57Arg) c.871G>C (p.Gly291Arg) n.272G>C | |
11 | g.2778008G= | CA1948315108 | KCNQ1 | c.1408G= (p.Gly470=) c.1225G= (p.Gly409=) c.1765G= (p.Gly589=) c.1384G= (p.Gly462=) c.169G= (p.Gly57=) c.871G= (p.Gly291=) n.272G= | |
11 | g.2778008G>T | CA379139717 | KCNQ1 | c.1408G>T (p.Gly470Cys) c.1225G>T (p.Gly409Cys) c.1765G>T (p.Gly589Cys) c.1384G>T (p.Gly462Cys) c.169G>T (p.Gly57Cys) c.871G>T (p.Gly291Cys) n.272G>T | COSMIC |
11 | g.2778009G>A | CA006347 | KCNQ1 | c.1409G>A (p.Gly470Asp) c.1226G>A (p.Gly409Asp) c.1766G>A (p.Gly589Asp) c.1385G>A (p.Gly462Asp) c.170G>A (p.Gly57Asp) c.872G>A (p.Gly291Asp) n.273G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2778009G>C | CA379139725 | KCNQ1 | c.1409G>C (p.Gly470Ala) c.1226G>C (p.Gly409Ala) c.1766G>C (p.Gly589Ala) c.1385G>C (p.Gly462Ala) c.170G>C (p.Gly57Ala) c.872G>C (p.Gly291Ala) n.273G>C | |
11 | g.2778009G= | CA1948315109 | KCNQ1 | c.1409G= (p.Gly470=) c.1226G= (p.Gly409=) c.1766G= (p.Gly589=) c.1385G= (p.Gly462=) c.170G= (p.Gly57=) c.872G= (p.Gly291=) n.273G= | |
11 | g.2778009G>T | CA379139723 | KCNQ1 | c.1409G>T (p.Gly470Val) c.1226G>T (p.Gly409Val) c.1766G>T (p.Gly589Val) c.1385G>T (p.Gly462Val) c.170G>T (p.Gly57Val) c.872G>T (p.Gly291Val) n.273G>T | |
11 | g.2778010C>A | CA472465599 | KCNQ1 | c.1410C>A (p.Gly470=) c.1227C>A (p.Gly409=) c.1767C>A (p.Gly589=) c.1386C>A (p.Gly462=) c.171C>A (p.Gly57=) c.873C>A (p.Gly291=) n.274C>A | |
11 | g.2778010C= | CA1948315110 | KCNQ1 | c.1410C= (p.Gly470=) c.1227C= (p.Gly409=) c.1767C= (p.Gly589=) c.1386C= (p.Gly462=) c.171C= (p.Gly57=) c.873C= (p.Gly291=) n.274C= | |
11 | g.2778010C>G | CA472465600 | KCNQ1 | c.1410C>G (p.Gly470=) c.1227C>G (p.Gly409=) c.1767C>G (p.Gly589=) c.1386C>G (p.Gly462=) c.171C>G (p.Gly57=) c.873C>G (p.Gly291=) n.274C>G | |
11 | g.2778010C>T | CA032726 | KCNQ1 | c.1410C>T (p.Gly470=) c.1227C>T (p.Gly409=) c.1767C>T (p.Gly589=) c.1386C>T (p.Gly462=) c.171C>T (p.Gly57=) c.873C>T (p.Gly291=) n.274C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2778011G>A | CA006354 | KCNQ1 | c.1411G>A (p.Ala471Thr) c.1228G>A (p.Ala410Thr) c.1768G>A (p.Ala590Thr) c.1387G>A (p.Ala463Thr) c.172G>A (p.Ala58Thr) c.874G>A (p.Ala292Thr) n.275G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2778011G>C | CA379139729 | KCNQ1 | c.1411G>C (p.Ala471Pro) c.1228G>C (p.Ala410Pro) c.1768G>C (p.Ala590Pro) c.1387G>C (p.Ala463Pro) c.172G>C (p.Ala58Pro) c.874G>C (p.Ala292Pro) n.275G>C | ClinVar dbSNP |
11 | g.2778011G= | CA1948315111 | KCNQ1 | c.1411G= (p.Ala471=) c.1228G= (p.Ala410=) c.1768G= (p.Ala590=) c.1387G= (p.Ala463=) c.172G= (p.Ala58=) c.874G= (p.Ala292=) n.275G= | |
11 | g.2778011G>T | CA379139731 | KCNQ1 | c.1411G>T (p.Ala471Ser) c.1228G>T (p.Ala410Ser) c.1768G>T (p.Ala590Ser) c.1387G>T (p.Ala463Ser) c.172G>T (p.Ala58Ser) c.874G>T (p.Ala292Ser) n.275G>T | gnomAD v4 |
11 | g.2778012C>A | CA379139734 | KCNQ1 | c.1412C>A (p.Ala471Asp) c.1229C>A (p.Ala410Asp) c.1769C>A (p.Ala590Asp) c.1388C>A (p.Ala463Asp) c.173C>A (p.Ala58Asp) c.875C>A (p.Ala292Asp) n.276C>A | |
11 | g.2778012C>G | CA379139735 | KCNQ1 | c.1412C>G (p.Ala471Gly) c.1229C>G (p.Ala410Gly) c.1769C>G (p.Ala590Gly) c.1388C>G (p.Ala463Gly) c.173C>G (p.Ala58Gly) c.875C>G (p.Ala292Gly) n.276C>G | |
11 | g.2778012C>T | CA379139737 | KCNQ1 | c.1412C>T (p.Ala471Val) c.1229C>T (p.Ala410Val) c.1769C>T (p.Ala590Val) c.1388C>T (p.Ala463Val) c.173C>T (p.Ala58Val) c.875C>T (p.Ala292Val) n.276C>T | gnomAD v4 |
11 | g.2778013C>A | CA472465601 | KCNQ1 | c.1413C>A (p.Ala471=) c.1230C>A (p.Ala410=) c.1770C>A (p.Ala590=) c.1389C>A (p.Ala463=) c.174C>A (p.Ala58=) c.876C>A (p.Ala292=) n.277C>A | ClinVar dbSNP gnomAD v4 |
11 | g.2778013C= | CA1948315112 | KCNQ1 | c.1413C= (p.Ala471=) c.1230C= (p.Ala410=) c.1770C= (p.Ala590=) c.1389C= (p.Ala463=) c.174C= (p.Ala58=) c.876C= (p.Ala292=) n.277C= | |
11 | g.2778013C>G | CA472465605 | KCNQ1 | c.1413C>G (p.Ala471=) c.1230C>G (p.Ala410=) c.1770C>G (p.Ala590=) c.1389C>G (p.Ala463=) c.174C>G (p.Ala58=) c.876C>G (p.Ala292=) n.277C>G | |
11 | g.2778013C>T | CA472465608 | KCNQ1 | c.1413C>T (p.Ala471=) c.1230C>T (p.Ala410=) c.1770C>T (p.Ala590=) c.1389C>T (p.Ala463=) c.174C>T (p.Ala58=) c.876C>T (p.Ala292=) n.277C>T | |
11 | g.2778014C>A | CA379139740 | KCNQ1 | c.1414C>A (p.Arg472Ser) c.1231C>A (p.Arg411Ser) c.1771C>A (p.Arg591Ser) c.1390C>A (p.Arg464Ser) c.175C>A (p.Arg59Ser) c.877C>A (p.Arg293Ser) n.278C>A | ClinVar |
11 | g.2778014C= | CA1948315113 | KCNQ1 | c.1414C= (p.Arg472=) c.1231C= (p.Arg411=) c.1771C= (p.Arg591=) c.1390C= (p.Arg464=) c.175C= (p.Arg59=) c.877C= (p.Arg293=) n.278C= | |
11 | g.2778014C>G | CA379139741 | KCNQ1 | c.1414C>G (p.Arg472Gly) c.1231C>G (p.Arg411Gly) c.1771C>G (p.Arg591Gly) c.1390C>G (p.Arg464Gly) c.175C>G (p.Arg59Gly) c.877C>G (p.Arg293Gly) n.278C>G | |
11 | g.2778014C>T | CA006360 | KCNQ1 | c.1414C>T (p.Arg472Cys) c.1231C>T (p.Arg411Cys) c.1771C>T (p.Arg591Cys) c.1390C>T (p.Arg464Cys) c.175C>T (p.Arg59Cys) c.877C>T (p.Arg293Cys) n.278C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2778015G>A | CA006369 | KCNQ1 | c.1415G>A (p.Arg472His) c.1232G>A (p.Arg411His) c.1772G>A (p.Arg591His) c.1391G>A (p.Arg464His) c.176G>A (p.Arg59His) c.878G>A (p.Arg293His) n.279G>A | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.2778015G>C | CA379139745 | KCNQ1 | c.1415G>C (p.Arg472Pro) c.1232G>C (p.Arg411Pro) c.1772G>C (p.Arg591Pro) c.1391G>C (p.Arg464Pro) c.176G>C (p.Arg59Pro) c.878G>C (p.Arg293Pro) n.279G>C | ClinVar dbSNP |
11 | g.2778015G= | CA1948315114 | KCNQ1 | c.1415G= (p.Arg472=) c.1232G= (p.Arg411=) c.1772G= (p.Arg591=) c.1391G= (p.Arg464=) c.176G= (p.Arg59=) c.878G= (p.Arg293=) n.279G= | |
11 | g.2778015G>T | CA006375 | KCNQ1 | c.1415G>T (p.Arg472Leu) c.1232G>T (p.Arg411Leu) c.1772G>T (p.Arg591Leu) c.1391G>T (p.Arg464Leu) c.176G>T (p.Arg59Leu) c.878G>T (p.Arg293Leu) n.279G>T | ClinVar dbSNP gnomAD v4 |
11 | g.2778015_2778016delinsGC | CA1948315115 | KCNQ1 | c.1415_1416delinsGC (p.Arg472=) c.1232_1233delinsGC (p.Arg411=) c.1772_1773delinsGC (p.Arg591=) c.1391_1392delinsGC (p.Arg464=) c.176_177delinsGC (p.Arg59=) c.878_879delinsGC (p.Arg293=) n.279_280delinsGC | |
11 | g.2778016C>A | CA472465616 | KCNQ1 | c.1416C>A (p.Arg472=) c.1233C>A (p.Arg411=) c.1773C>A (p.Arg591=) c.1392C>A (p.Arg464=) c.177C>A (p.Arg59=) c.879C>A (p.Arg293=) n.280C>A | |
11 | g.2778016C>G | CA472465615 | KCNQ1 | c.1416C>G (p.Arg472=) c.1233C>G (p.Arg411=) c.1773C>G (p.Arg591=) c.1392C>G (p.Arg464=) c.177C>G (p.Arg59=) c.879C>G (p.Arg293=) n.280C>G | |
11 | g.2778016C>T | CA472465613 | KCNQ1 | c.1416C>T (p.Arg472=) c.1233C>T (p.Arg411=) c.1773C>T (p.Arg591=) c.1392C>T (p.Arg464=) c.177C>T (p.Arg59=) c.879C>T (p.Arg293=) n.280C>T | |
11 | g.2778017del | CA1948315116 | KCNQ1 | c.1417del (p.Leu473Ter) c.1234del (p.Leu412Ter) c.1774del (p.Leu592Ter) c.1393del (p.Leu465Ter) c.178del (p.Leu60Ter) c.880del (p.Leu294Ter) n.281del | dbSNP |
11 | g.2778017C>A | CA379139748 | KCNQ1 | c.1417C>A (p.Leu473Met) c.1234C>A (p.Leu412Met) c.1774C>A (p.Leu592Met) c.1393C>A (p.Leu465Met) c.178C>A (p.Leu60Met) c.880C>A (p.Leu294Met) n.281C>A | |
11 | g.2778017C>G | CA379139750 | KCNQ1 | c.1417C>G (p.Leu473Val) c.1234C>G (p.Leu412Val) c.1774C>G (p.Leu592Val) c.1393C>G (p.Leu465Val) c.178C>G (p.Leu60Val) c.880C>G (p.Leu294Val) n.281C>G | |
11 | g.2778017C>T | CA472465620 | KCNQ1 | c.1417C>T (p.Leu473=) c.1234C>T (p.Leu412=) c.1774C>T (p.Leu592=) c.1393C>T (p.Leu465=) c.178C>T (p.Leu60=) c.880C>T (p.Leu294=) n.281C>T | |
11 | g.2778018T>A | CA379139752 | KCNQ1 | c.1418T>A (p.Leu473Gln) c.1235T>A (p.Leu412Gln) c.1775T>A (p.Leu592Gln) c.1394T>A (p.Leu465Gln) c.179T>A (p.Leu60Gln) c.881T>A (p.Leu294Gln) n.282T>A | |
11 | g.2778018T>C | CA379139754 | KCNQ1 | c.1418T>C (p.Leu473Pro) c.1235T>C (p.Leu412Pro) c.1775T>C (p.Leu592Pro) c.1394T>C (p.Leu465Pro) c.179T>C (p.Leu60Pro) c.881T>C (p.Leu294Pro) n.282T>C | dbSNP |
11 | g.2778018T>G | CA379139756 | KCNQ1 | c.1418T>G (p.Leu473Arg) c.1235T>G (p.Leu412Arg) c.1775T>G (p.Leu592Arg) c.1394T>G (p.Leu465Arg) c.179T>G (p.Leu60Arg) c.881T>G (p.Leu294Arg) n.282T>G | |
11 | g.2778018T= | CA1948315117 | KCNQ1 | c.1418T= (p.Leu473=) c.1235T= (p.Leu412=) c.1775T= (p.Leu592=) c.1394T= (p.Leu465=) c.179T= (p.Leu60=) c.881T= (p.Leu294=) n.282T= | |
11 | g.2778019G>A | CA472465625 | KCNQ1 | c.1419G>A (p.Leu473=) c.1236G>A (p.Leu412=) c.1776G>A (p.Leu592=) c.1395G>A (p.Leu465=) c.180G>A (p.Leu60=) c.882G>A (p.Leu294=) n.283G>A | ClinVar dbSNP |
11 | g.2778019G>C | CA472465626 | KCNQ1 | c.1419G>C (p.Leu473=) c.1236G>C (p.Leu412=) c.1776G>C (p.Leu592=) c.1395G>C (p.Leu465=) c.180G>C (p.Leu60=) c.882G>C (p.Leu294=) n.283G>C | |
11 | g.2778019G>T | CA472465627 | KCNQ1 | c.1419G>T (p.Leu473=) c.1236G>T (p.Leu412=) c.1776G>T (p.Leu592=) c.1395G>T (p.Leu465=) c.180G>T (p.Leu60=) c.882G>T (p.Leu294=) n.283G>T | gnomAD v4 |
11 | g.2778020A>C | CA379139758 | KCNQ1 | c.1420A>C (p.Asn474His) c.1237A>C (p.Asn413His) c.1777A>C (p.Asn593His) c.1396A>C (p.Asn466His) c.181A>C (p.Asn61His) c.883A>C (p.Asn295His) n.284A>C | |
11 | g.2778020A>G | CA379139760 | KCNQ1 | c.1420A>G (p.Asn474Asp) c.1237A>G (p.Asn413Asp) c.1777A>G (p.Asn593Asp) c.1396A>G (p.Asn466Asp) c.181A>G (p.Asn61Asp) c.883A>G (p.Asn295Asp) n.284A>G | |
11 | g.2778020A>T | CA379139761 | KCNQ1 | c.1420A>T (p.Asn474Tyr) c.1237A>T (p.Asn413Tyr) c.1777A>T (p.Asn593Tyr) c.1396A>T (p.Asn466Tyr) c.181A>T (p.Asn61Tyr) c.883A>T (p.Asn295Tyr) n.284A>T | |
11 | g.2778021A= | CA1948315118 | KCNQ1 | c.1421A= (p.Asn474=) c.1238A= (p.Asn413=) c.1778A= (p.Asn593=) c.1397A= (p.Asn466=) c.182A= (p.Asn61=) c.884A= (p.Asn295=) n.285A= | |
11 | g.2778021A>C | CA379139764 | KCNQ1 | c.1421A>C (p.Asn474Thr) c.1238A>C (p.Asn413Thr) c.1778A>C (p.Asn593Thr) c.1397A>C (p.Asn466Thr) c.182A>C (p.Asn61Thr) c.884A>C (p.Asn295Thr) n.285A>C | |
11 | g.2778021A>G | CA379139765 | KCNQ1 | c.1421A>G (p.Asn474Ser) c.1238A>G (p.Asn413Ser) c.1778A>G (p.Asn593Ser) c.1397A>G (p.Asn466Ser) c.182A>G (p.Asn61Ser) c.884A>G (p.Asn295Ser) n.285A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2778021A>T | CA379139767 | KCNQ1 | c.1421A>T (p.Asn474Ile) c.1238A>T (p.Asn413Ile) c.1778A>T (p.Asn593Ile) c.1397A>T (p.Asn466Ile) c.182A>T (p.Asn61Ile) c.884A>T (p.Asn295Ile) n.285A>T | |
11 | g.2778022C>A | CA379139769 | KCNQ1 | c.1422C>A (p.Asn474Lys) c.1239C>A (p.Asn413Lys) c.1779C>A (p.Asn593Lys) c.1398C>A (p.Asn466Lys) c.183C>A (p.Asn61Lys) c.885C>A (p.Asn295Lys) n.286C>A | |
11 | g.2778022C= | CA1948315119 | KCNQ1 | c.1422C= (p.Asn474=) c.1239C= (p.Asn413=) c.1779C= (p.Asn593=) c.1398C= (p.Asn466=) c.183C= (p.Asn61=) c.885C= (p.Asn295=) n.286C= | |
11 | g.2778022C>G | CA379139771 | KCNQ1 | c.1422C>G (p.Asn474Lys) c.1239C>G (p.Asn413Lys) c.1779C>G (p.Asn593Lys) c.1398C>G (p.Asn466Lys) c.183C>G (p.Asn61Lys) c.885C>G (p.Asn295Lys) n.286C>G | ClinVar dbSNP gnomAD v4 |
11 | g.2778022C>T | CA472465630 | KCNQ1 | c.1422C>T (p.Asn474=) c.1239C>T (p.Asn413=) c.1779C>T (p.Asn593=) c.1398C>T (p.Asn466=) c.183C>T (p.Asn61=) c.885C>T (p.Asn295=) n.286C>T | |
11 | g.2778023C>A | CA472465634 | KCNQ1 | c.1423C>A (p.Arg475=) c.1240C>A (p.Arg414=) c.1780C>A (p.Arg594=) c.1399C>A (p.Arg467=) c.184C>A (p.Arg62=) c.886C>A (p.Arg296=) n.287C>A | ClinVar dbSNP gnomAD v4 |
11 | g.2778023C= | CA1948315120 | KCNQ1 | c.1423C= (p.Arg475=) c.1240C= (p.Arg414=) c.1780C= (p.Arg594=) c.1399C= (p.Arg467=) c.184C= (p.Arg62=) c.886C= (p.Arg296=) n.287C= | |
11 | g.2778023C>G | CA379139772 | KCNQ1 | c.1423C>G (p.Arg475Gly) c.1240C>G (p.Arg414Gly) c.1780C>G (p.Arg594Gly) c.1399C>G (p.Arg467Gly) c.184C>G (p.Arg62Gly) c.886C>G (p.Arg296Gly) n.287C>G | |
11 | g.2778023C>T | CA006380 | KCNQ1 | c.1423C>T (p.Arg475Ter) c.1240C>T (p.Arg414Ter) c.1780C>T (p.Arg594Ter) c.1399C>T (p.Arg467Ter) c.184C>T (p.Arg62Ter) c.886C>T (p.Arg296Ter) n.287C>T | ClinVar dbSNP gnomAD v4 |
11 | g.2778024G>A | CA006388 | KCNQ1 | c.1424G>A (p.Arg475Gln) c.1241G>A (p.Arg414Gln) c.1781G>A (p.Arg594Gln) c.1400G>A (p.Arg467Gln) c.185G>A (p.Arg62Gln) c.887G>A (p.Arg296Gln) n.288G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2778024G>C | CA006395 | KCNQ1 | c.1424G>C (p.Arg475Pro) c.1241G>C (p.Arg414Pro) c.1781G>C (p.Arg594Pro) c.1400G>C (p.Arg467Pro) c.185G>C (p.Arg62Pro) c.887G>C (p.Arg296Pro) n.288G>C | ClinVar dbSNP gnomAD v4 |
11 | g.2778024G= | CA1948315121 | KCNQ1 | c.1424G= (p.Arg475=) c.1241G= (p.Arg414=) c.1781G= (p.Arg594=) c.1400G= (p.Arg467=) c.185G= (p.Arg62=) c.887G= (p.Arg296=) n.288G= | |
11 | g.2778024G>T | CA379139775 | KCNQ1 | c.1424G>T (p.Arg475Leu) c.1241G>T (p.Arg414Leu) c.1781G>T (p.Arg594Leu) c.1400G>T (p.Arg467Leu) c.185G>T (p.Arg62Leu) c.887G>T (p.Arg296Leu) n.288G>T | ClinVar |
11 | g.2778025A>C | CA472465637 | KCNQ1 | c.1425A>C (p.Arg475=) c.1242A>C (p.Arg414=) c.1782A>C (p.Arg594=) c.1401A>C (p.Arg467=) c.186A>C (p.Arg62=) c.888A>C (p.Arg296=) n.289A>C | |
11 | g.2778025A>G | CA472465639 | KCNQ1 | c.1425A>G (p.Arg475=) c.1242A>G (p.Arg414=) c.1782A>G (p.Arg594=) c.1401A>G (p.Arg467=) c.186A>G (p.Arg62=) c.888A>G (p.Arg296=) n.289A>G | |
11 | g.2778025A>T | CA472465641 | KCNQ1 | c.1425A>T (p.Arg475=) c.1242A>T (p.Arg414=) c.1782A>T (p.Arg594=) c.1401A>T (p.Arg467=) c.186A>T (p.Arg62=) c.888A>T (p.Arg296=) n.289A>T | |
11 | g.2778025_2778026delinsAG | CA1948315122 | KCNQ1 | c.1425_1426delinsAG (p.Arg475=) c.1242_1243delinsAG (p.Arg414=) c.1782_1783delinsAG (p.Arg594=) c.1401_1402delinsAG (p.Arg467=) c.186_187delinsAG (p.Arg62=) c.888_889delinsAG (p.Arg296=) n.289_290delinsAG | |
11 | g.2778027_2778029del | CA2695213090 | KCNQ1 | c.1427_1429del (p.Val476del) c.1244_1246del (p.Val415del) c.1784_1786del (p.Val595del) c.1403_1405del (p.Val468del) c.188_190del (p.Val63del) c.890_892del (p.Val297del) n.291_293del | |
11 | g.2778026del | CA032751 | KCNQ1 | c.1426del (p.Val476Ter) c.1243del (p.Val415Ter) c.1783del (p.Val595Ter) c.1402del (p.Val468Ter) c.187del (p.Val63Ter) c.889del (p.Val297Ter) n.290del | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.2778026G>A | CA379139779 | KCNQ1 | c.1426G>A (p.Val476Ile) c.1243G>A (p.Val415Ile) c.1783G>A (p.Val595Ile) c.1402G>A (p.Val468Ile) c.187G>A (p.Val63Ile) c.889G>A (p.Val297Ile) n.290G>A | ClinVar gnomAD v4 |
11 | g.2778026G>C | CA379139780 | KCNQ1 | c.1426G>C (p.Val476Leu) c.1243G>C (p.Val415Leu) c.1783G>C (p.Val595Leu) c.1402G>C (p.Val468Leu) c.187G>C (p.Val63Leu) c.889G>C (p.Val297Leu) n.290G>C | |
11 | g.2778026G= | CA1948315123 | KCNQ1 | c.1426G= (p.Val476=) c.1243G= (p.Val415=) c.1783G= (p.Val595=) c.1402G= (p.Val468=) c.187G= (p.Val63=) c.889G= (p.Val297=) n.290G= | |
11 | g.2778026G>T | CA032779 | KCNQ1 | c.1426G>T (p.Val476Leu) c.1243G>T (p.Val415Leu) c.1783G>T (p.Val595Leu) c.1402G>T (p.Val468Leu) c.187G>T (p.Val63Leu) c.889G>T (p.Val297Leu) n.290G>T | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.2778027T>A | CA379139781 | KCNQ1 | c.1427T>A (p.Val476Glu) c.1244T>A (p.Val415Glu) c.1784T>A (p.Val595Glu) c.1403T>A (p.Val468Glu) c.188T>A (p.Val63Glu) c.890T>A (p.Val297Glu) n.291T>A | |
11 | g.2778027T>C | CA379139783 | KCNQ1 | c.1427T>C (p.Val476Ala) c.1244T>C (p.Val415Ala) c.1784T>C (p.Val595Ala) c.1403T>C (p.Val468Ala) c.188T>C (p.Val63Ala) c.890T>C (p.Val297Ala) n.291T>C | |
11 | g.2778027T>G | CA379139784 | KCNQ1 | c.1427T>G (p.Val476Gly) c.1244T>G (p.Val415Gly) c.1784T>G (p.Val595Gly) c.1403T>G (p.Val468Gly) c.188T>G (p.Val63Gly) c.890T>G (p.Val297Gly) n.291T>G | |
11 | g.2778028A= | CA1948315124 | KCNQ1 | c.1428A= (p.Val476=) c.1245A= (p.Val415=) c.1785A= (p.Val595=) c.1404A= (p.Val468=) c.189A= (p.Val63=) c.891A= (p.Val297=) n.292A= | |
11 | g.2778028A>C | CA472465647 | KCNQ1 | c.1428A>C (p.Val476=) c.1245A>C (p.Val415=) c.1785A>C (p.Val595=) c.1404A>C (p.Val468=) c.189A>C (p.Val63=) c.891A>C (p.Val297=) n.292A>C | |
11 | g.2778028A>G | CA216322012 | KCNQ1 | c.1428A>G (p.Val476=) c.1245A>G (p.Val415=) c.1785A>G (p.Val595=) c.1404A>G (p.Val468=) c.189A>G (p.Val63=) c.891A>G (p.Val297=) n.292A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2778028A>T | CA472465648 | KCNQ1 | c.1428A>T (p.Val476=) c.1245A>T (p.Val415=) c.1785A>T (p.Val595=) c.1404A>T (p.Val468=) c.189A>T (p.Val63=) c.891A>T (p.Val297=) n.292A>T | |
11 | g.2778031_2778033del | CA2580615606 | KCNQ1 | c.1431_1433del (p.Glu477del) c.1248_1250del (p.Glu416del) c.1788_1790del (p.Glu596del) c.1407_1409del (p.Glu469del) c.192_194del (p.Glu64del) c.894_896del (p.Glu298del) n.295_297del | ClinVar |
11 | g.2778029G>A | CA006401 | KCNQ1 | c.1429G>A (p.Glu477Lys) c.1246G>A (p.Glu416Lys) c.1786G>A (p.Glu596Lys) c.1405G>A (p.Glu469Lys) c.190G>A (p.Glu64Lys) c.892G>A (p.Glu298Lys) n.293G>A | ClinVar dbSNP |
11 | g.2778029G>C | CA379139787 | KCNQ1 | c.1429G>C (p.Glu477Gln) c.1246G>C (p.Glu416Gln) c.1786G>C (p.Glu596Gln) c.1405G>C (p.Glu469Gln) c.190G>C (p.Glu64Gln) c.892G>C (p.Glu298Gln) n.293G>C | |
11 | g.2778029G= | CA1948315125 | KCNQ1 | c.1429G= (p.Glu477=) c.1246G= (p.Glu416=) c.1786G= (p.Glu596=) c.1405G= (p.Glu469=) c.190G= (p.Glu64=) c.892G= (p.Glu298=) n.293G= | |
11 | g.2778029G>T | CA379139789 | KCNQ1 | c.1429G>T (p.Glu477Ter) c.1246G>T (p.Glu416Ter) c.1786G>T (p.Glu596Ter) c.1405G>T (p.Glu469Ter) c.190G>T (p.Glu64Ter) c.892G>T (p.Glu298Ter) n.293G>T | gnomAD v4 |
11 | g.2778030A= | CA1948315126 | KCNQ1 | c.1430A= (p.Glu477=) c.1247A= (p.Glu416=) c.1787A= (p.Glu596=) c.1406A= (p.Glu469=) c.191A= (p.Glu64=) c.893A= (p.Glu298=) n.294A= | |
11 | g.2778030A>C | CA379139791 | KCNQ1 | c.1430A>C (p.Glu477Ala) c.1247A>C (p.Glu416Ala) c.1787A>C (p.Glu596Ala) c.1406A>C (p.Glu469Ala) c.191A>C (p.Glu64Ala) c.893A>C (p.Glu298Ala) n.294A>C | |
11 | g.2778030A>G | CA006408 | KCNQ1 | c.1430A>G (p.Glu477Gly) c.1247A>G (p.Glu416Gly) c.1787A>G (p.Glu596Gly) c.1406A>G (p.Glu469Gly) c.191A>G (p.Glu64Gly) c.893A>G (p.Glu298Gly) n.294A>G | ClinVar dbSNP |
11 | g.2778030A>T | CA379139794 | KCNQ1 | c.1430A>T (p.Glu477Val) c.1247A>T (p.Glu416Val) c.1787A>T (p.Glu596Val) c.1406A>T (p.Glu469Val) c.191A>T (p.Glu64Val) c.893A>T (p.Glu298Val) n.294A>T | |
11 | g.2778031A= | CA1948315127 | KCNQ1 | c.1431A= (p.Glu477=) c.1248A= (p.Glu416=) c.1788A= (p.Glu596=) c.1407A= (p.Glu469=) c.192A= (p.Glu64=) c.894A= (p.Glu298=) n.295A= | |
11 | g.2778031A>C | CA379139799 | KCNQ1 | c.1431A>C (p.Glu477Asp) c.1248A>C (p.Glu416Asp) c.1788A>C (p.Glu596Asp) c.1407A>C (p.Glu469Asp) c.192A>C (p.Glu64Asp) c.894A>C (p.Glu298Asp) n.295A>C | |
11 | g.2778031A>G | CA032800 | KCNQ1 | c.1431A>G (p.Glu477=) c.1248A>G (p.Glu416=) c.1788A>G (p.Glu596=) c.1407A>G (p.Glu469=) c.192A>G (p.Glu64=) c.894A>G (p.Glu298=) n.295A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2778031A>T | CA379139797 | KCNQ1 | c.1431A>T (p.Glu477Asp) c.1248A>T (p.Glu416Asp) c.1788A>T (p.Glu596Asp) c.1407A>T (p.Glu469Asp) c.192A>T (p.Glu64Asp) c.894A>T (p.Glu298Asp) n.295A>T | |
11 | g.2778032G>A | CA379139801 | KCNQ1 | c.1432G>A (p.Asp478Asn) c.1249G>A (p.Asp417Asn) c.1789G>A (p.Asp597Asn) c.1408G>A (p.Asp470Asn) c.193G>A (p.Asp65Asn) c.895G>A (p.Asp299Asn) n.296G>A | |
11 | g.2778032G>C | CA379139803 | KCNQ1 | c.1432G>C (p.Asp478His) c.1249G>C (p.Asp417His) c.1789G>C (p.Asp597His) c.1408G>C (p.Asp470His) c.193G>C (p.Asp65His) c.895G>C (p.Asp299His) n.296G>C | |
11 | g.2778032G>T | CA379139804 | KCNQ1 | c.1432G>T (p.Asp478Tyr) c.1249G>T (p.Asp417Tyr) c.1789G>T (p.Asp597Tyr) c.1408G>T (p.Asp470Tyr) c.193G>T (p.Asp65Tyr) c.895G>T (p.Asp299Tyr) n.296G>T | |
11 | g.2778033A>C | CA379139807 | KCNQ1 | c.1433A>C (p.Asp478Ala) c.1250A>C (p.Asp417Ala) c.1790A>C (p.Asp597Ala) c.1409A>C (p.Asp470Ala) c.194A>C (p.Asp65Ala) c.896A>C (p.Asp299Ala) n.297A>C | |
11 | g.2778033A>G | CA379139809 | KCNQ1 | c.1433A>G (p.Asp478Gly) c.1250A>G (p.Asp417Gly) c.1790A>G (p.Asp597Gly) c.1409A>G (p.Asp470Gly) c.194A>G (p.Asp65Gly) c.896A>G (p.Asp299Gly) n.297A>G | |
11 | g.2778033A>T | CA379139810 | KCNQ1 | c.1433A>T (p.Asp478Val) c.1250A>T (p.Asp417Val) c.1790A>T (p.Asp597Val) c.1409A>T (p.Asp470Val) c.194A>T (p.Asp65Val) c.896A>T (p.Asp299Val) n.297A>T | |
11 | g.2778034C>A | CA379139812 | KCNQ1 | c.1434C>A (p.Asp478Glu) c.1251C>A (p.Asp417Glu) c.1791C>A (p.Asp597Glu) c.1410C>A (p.Asp470Glu) c.195C>A (p.Asp65Glu) c.897C>A (p.Asp299Glu) n.298C>A | |
11 | g.2778034C>G | CA379139814 | KCNQ1 | c.1434C>G (p.Asp478Glu) c.1251C>G (p.Asp417Glu) c.1791C>G (p.Asp597Glu) c.1410C>G (p.Asp470Glu) c.195C>G (p.Asp65Glu) c.897C>G (p.Asp299Glu) n.298C>G | |
11 | g.2778034C>T | CA472465661 | KCNQ1 | c.1434C>T (p.Asp478=) c.1251C>T (p.Asp417=) c.1791C>T (p.Asp597=) c.1410C>T (p.Asp470=) c.195C>T (p.Asp65=) c.897C>T (p.Asp299=) n.298C>T | |
11 | g.2778035A>C | CA379139816 | KCNQ1 | c.1435A>C (p.Lys479Gln) c.1252A>C (p.Lys418Gln) c.1792A>C (p.Lys598Gln) c.1411A>C (p.Lys471Gln) c.196A>C (p.Lys66Gln) c.898A>C (p.Lys300Gln) n.299A>C | COSMIC COSMIC |
11 | g.2778035A>G | CA379139817 | KCNQ1 | c.1435A>G (p.Lys479Glu) c.1252A>G (p.Lys418Glu) c.1792A>G (p.Lys598Glu) c.1411A>G (p.Lys471Glu) c.196A>G (p.Lys66Glu) c.898A>G (p.Lys300Glu) n.299A>G | |
11 | g.2778035A>T | CA379139818 | KCNQ1 | c.1435A>T (p.Lys479Ter) c.1252A>T (p.Lys418Ter) c.1792A>T (p.Lys598Ter) c.1411A>T (p.Lys471Ter) c.196A>T (p.Lys66Ter) c.898A>T (p.Lys300Ter) n.299A>T | |
11 | g.2778035_2778036del | CA2499220875 | KCNQ1 | c.1435_1436del (p.Lys479GlyfsTer?) c.1252_1253del (p.Lys418GlufsTer29) c.1792_1793del (p.Lys598GlyfsTer?) c.1411_1412del (p.Lys471GlyfsTer?) c.196_197del (p.Lys66GlyfsTer?) c.898_899del (p.Lys300GlufsTer29) n.299_300del | ClinVar dbSNP |
11 | g.2778036del | CA2612011032 | KCNQ1 | c.1436del (p.Lys479ArgfsTer2) c.1253del (p.Lys418ArgfsTer?) c.1793del (p.Lys598ArgfsTer2) c.1412del (p.Lys471ArgfsTer2) c.197del (p.Lys66ArgfsTer2) c.899del (p.Lys300ArgfsTer?) n.300del | gnomAD v4 |
11 | g.2778035_2778039delinsAAGGT | CA1948315128 | KCNQ1 | c.1435_1437+2delinsAAGGT c.1252_1254+2delinsAAGGT c.1792_1794+2delinsAAGGT c.1411_1413+2delinsAAGGT c.196_198+2delinsAAGGT c.898_900+2delinsAAGGT n.299_301+2delinsAAGGT | |
11 | g.2778036A= | CA1948315129 | KCNQ1 | c.1436A= (p.Lys479=) c.1253A= (p.Lys418=) c.1793A= (p.Lys598=) c.1412A= (p.Lys471=) c.197A= (p.Lys66=) c.899A= (p.Lys300=) n.300A= | |
11 | g.2778036A>C | CA379139820 | KCNQ1 | c.1436A>C (p.Lys479Thr) c.1253A>C (p.Lys418Thr) c.1793A>C (p.Lys598Thr) c.1412A>C (p.Lys471Thr) c.197A>C (p.Lys66Thr) c.899A>C (p.Lys300Thr) n.300A>C | |
11 | g.2778036A>G | CA006414 | KCNQ1 | c.1436A>G (p.Lys479Arg) c.1253A>G (p.Lys418Arg) c.1793A>G (p.Lys598Arg) c.1412A>G (p.Lys471Arg) c.197A>G (p.Lys66Arg) c.899A>G (p.Lys300Arg) n.300A>G | ClinVar dbSNP |
11 | g.2778036A>T | CA379139819 | KCNQ1 | c.1436A>T (p.Lys479Met) c.1253A>T (p.Lys418Met) c.1793A>T (p.Lys598Met) c.1412A>T (p.Lys471Met) c.197A>T (p.Lys66Met) c.899A>T (p.Lys300Met) n.300A>T | |
11 | g.2778039_2778042del | CA916080422 | KCNQ1 | c.1437+2_1437+5del c.1254+2_1254+5del c.1794+2_1794+5del c.1413+2_1413+5del c.198+2_198+5del c.900+2_900+5del n.301+2_301+5del | ClinVar dbSNP |
11 | g.2778037G>A | CA006431 | KCNQ1 | c.1437G>A (p.Lys479=) c.1254G>A (p.Lys418=) c.1794G>A (p.Lys598=) c.1413G>A (p.Lys471=) c.198G>A (p.Lys66=) c.900G>A (p.Lys300=) n.301G>A | ClinVar dbSNP gnomAD v4 |
11 | g.2778037G>C | CA379139822 | KCNQ1 | c.1437G>C (p.Lys479Asn) c.1254G>C (p.Lys418Asn) c.1794G>C (p.Lys598Asn) c.1413G>C (p.Lys471Asn) c.198G>C (p.Lys66Asn) c.900G>C (p.Lys300Asn) n.301G>C | |
11 | g.2778037G= | CA1948315130 | KCNQ1 | c.1437G= (p.Lys479=) c.1254G= (p.Lys418=) c.1794G= (p.Lys598=) c.1413G= (p.Lys471=) c.198G= (p.Lys66=) c.900G= (p.Lys300=) n.301G= | |
11 | g.2778037G>T | CA379139821 | KCNQ1 | c.1437G>T (p.Lys479Asn) c.1254G>T (p.Lys418Asn) c.1794G>T (p.Lys598Asn) c.1413G>T (p.Lys471Asn) c.198G>T (p.Lys66Asn) c.900G>T (p.Lys300Asn) n.301G>T | |
11 | g.2778038G>A | CA379139823 | KCNQ1 | c.1437+1G>A (n.1437+1G>A) c.1254+1G>A (n.1254+1G>A) c.1794+1G>A (n.1794+1G>A) c.1413+1G>A (n.1413+1G>A) c.198+1G>A (n.198+1G>A) c.900+1G>A (n.900+1G>A) n.301+1G>A | ClinVar |
11 | g.2778038G>C | CA379139825 | KCNQ1 | c.1437+1G>C (n.1437+1G>C) c.1254+1G>C (n.1254+1G>C) c.1794+1G>C (n.1794+1G>C) c.1413+1G>C (n.1413+1G>C) c.198+1G>C (n.198+1G>C) c.900+1G>C (n.900+1G>C) n.301+1G>C | |
11 | g.2778038G>T | CA379139824 | KCNQ1 | c.1437+1G>T (n.1437+1G>T) c.1254+1G>T (n.1254+1G>T) c.1794+1G>T (n.1794+1G>T) c.1413+1G>T (n.1413+1G>T) c.198+1G>T (n.198+1G>T) c.900+1G>T (n.900+1G>T) n.301+1G>T | gnomAD v4 |
11 | g.2778039T>A | CA379139826 | KCNQ1 | c.1437+2T>A (n.1437+2T>A) c.1254+2T>A (n.1254+2T>A) c.1794+2T>A (n.1794+2T>A) c.1413+2T>A (n.1413+2T>A) c.198+2T>A (n.198+2T>A) c.900+2T>A (n.900+2T>A) n.301+2T>A | |
11 | g.2778039T>C | CA379139828 | KCNQ1 | c.1437+2T>C (n.1437+2T>C) c.1254+2T>C (n.1254+2T>C) c.1794+2T>C (n.1794+2T>C) c.1413+2T>C (n.1413+2T>C) c.198+2T>C (n.198+2T>C) c.900+2T>C (n.900+2T>C) n.301+2T>C | ClinVar |
11 | g.2778039T>G | CA379139827 | KCNQ1 | c.1437+2T>G (n.1437+2T>G) c.1254+2T>G (n.1254+2T>G) c.1794+2T>G (n.1794+2T>G) c.1413+2T>G (n.1413+2T>G) c.198+2T>G (n.198+2T>G) c.900+2T>G (n.900+2T>G) n.301+2T>G | |
11 | g.2778040A= | CA1948315131 | KCNQ1 | c.1437+3A= (n.1437+3A=) c.1254+3A= (n.1254+3A=) c.1794+3A= (n.1794+3A=) c.1413+3A= (n.1413+3A=) c.198+3A= (n.198+3A=) c.900+3A= (n.900+3A=) n.301+3A= | |
11 | g.2778040A>G | CA216322039 | KCNQ1 | c.1437+3A>G (n.1437+3A>G) c.1254+3A>G (n.1254+3A>G) c.1794+3A>G (n.1794+3A>G) c.1413+3A>G (n.1413+3A>G) c.198+3A>G (n.198+3A>G) c.900+3A>G (n.900+3A>G) n.301+3A>G | dbSNP gnomAD v4 |
11 | g.2778040A>T | CA2580082668 | KCNQ1 | c.1437+3A>T (n.1437+3A>T) c.1254+3A>T (n.1254+3A>T) c.1794+3A>T (n.1794+3A>T) c.1413+3A>T (n.1413+3A>T) c.198+3A>T (n.198+3A>T) c.900+3A>T (n.900+3A>T) n.301+3A>T | ClinVar |