Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2583546_2587569del | CA1139661776 | KCNQ1 | c.771+1_772-1del c.588+1_589-1del c.1032+1_1129-1del c.651+1_748-1del c.234+1_235-1del | ClinVar |
11 | g.2587527G>C | CA2612003426 | KCNQ1 | c.772-43G>C (n.772-43G>C) c.589-43G>C (n.589-43G>C) c.1129-43G>C (n.1129-43G>C) c.748-43G>C (n.748-43G>C) c.235-43G>C (n.235-43G>C) | gnomAD v4 |
11 | g.2587527G>T | CA2838365977 | KCNQ1 | c.772-43G>T (n.772-43G>T) c.589-43G>T (n.589-43G>T) c.1129-43G>T (n.1129-43G>T) c.748-43G>T (n.748-43G>T) c.235-43G>T (n.235-43G>T) | |
11 | g.2587528G>T | CA2612003427 | KCNQ1 | c.772-42G>T (n.772-42G>T) c.589-42G>T (n.589-42G>T) c.1129-42G>T (n.1129-42G>T) c.748-42G>T (n.748-42G>T) c.235-42G>T (n.235-42G>T) | gnomAD v4 |
11 | g.2587529T>C | CA2841921254 | KCNQ1 | c.772-41T>C (n.772-41T>C) c.589-41T>C (n.589-41T>C) c.1129-41T>C (n.1129-41T>C) c.748-41T>C (n.748-41T>C) c.235-41T>C (n.235-41T>C) | |
11 | g.2587530G>A | CA674945517 | KCNQ1 | c.772-40G>A (n.772-40G>A) c.589-40G>A (n.589-40G>A) c.1129-40G>A (n.1129-40G>A) c.748-40G>A (n.748-40G>A) c.235-40G>A (n.235-40G>A) | dbSNP |
11 | g.2587530G= | CA1948232873 | KCNQ1 | c.772-40G= (n.772-40G=) c.589-40G= (n.589-40G=) c.1129-40G= (n.1129-40G=) c.748-40G= (n.748-40G=) c.235-40G= (n.235-40G=) | |
11 | g.2587530G>T | CA2841921255 | KCNQ1 | c.772-40G>T (n.772-40G>T) c.589-40G>T (n.589-40G>T) c.1129-40G>T (n.1129-40G>T) c.748-40G>T (n.748-40G>T) c.235-40G>T (n.235-40G>T) | |
11 | g.2587531G>A | CA2839537066 | KCNQ1 | c.772-39G>A (n.772-39G>A) c.589-39G>A (n.589-39G>A) c.1129-39G>A (n.1129-39G>A) c.748-39G>A (n.748-39G>A) c.235-39G>A (n.235-39G>A) | |
11 | g.2587532C>A | CA2839487551 | KCNQ1 | c.772-38C>A (n.772-38C>A) c.589-38C>A (n.589-38C>A) c.1129-38C>A (n.1129-38C>A) c.748-38C>A (n.748-38C>A) c.235-38C>A (n.235-38C>A) | |
11 | g.2587532C= | CA1948232875 | KCNQ1 | c.772-38C= (n.772-38C=) c.589-38C= (n.589-38C=) c.1129-38C= (n.1129-38C=) c.748-38C= (n.748-38C=) c.235-38C= (n.235-38C=) | |
11 | g.2587532C>T | CA597110998 | KCNQ1 | c.772-38C>T (n.772-38C>T) c.589-38C>T (n.589-38C>T) c.1129-38C>T (n.1129-38C>T) c.748-38C>T (n.748-38C>T) c.235-38C>T (n.235-38C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587533T>C | CA2839487550 | KCNQ1 | c.772-37T>C (n.772-37T>C) c.589-37T>C (n.589-37T>C) c.1129-37T>C (n.1129-37T>C) c.748-37T>C (n.748-37T>C) c.235-37T>C (n.235-37T>C) | |
11 | g.2587534C= | CA1948232880 | KCNQ1 | c.772-36C= (n.772-36C=) c.589-36C= (n.589-36C=) c.1129-36C= (n.1129-36C=) c.748-36C= (n.748-36C=) c.235-36C= (n.235-36C=) | |
11 | g.2587534C>T | CA674945524 | KCNQ1 | c.772-36C>T (n.772-36C>T) c.589-36C>T (n.589-36C>T) c.1129-36C>T (n.1129-36C>T) c.748-36C>T (n.748-36C>T) c.235-36C>T (n.235-36C>T) | dbSNP gnomAD v4 |
11 | g.2587535A= | CA1948232883 | KCNQ1 | c.772-35A= (n.772-35A=) c.589-35A= (n.589-35A=) c.1129-35A= (n.1129-35A=) c.748-35A= (n.748-35A=) c.235-35A= (n.235-35A=) | |
11 | g.2587535A>C | CA934463813 | KCNQ1 | c.772-35A>C (n.772-35A>C) c.589-35A>C (n.589-35A>C) c.1129-35A>C (n.1129-35A>C) c.748-35A>C (n.748-35A>C) c.235-35A>C (n.235-35A>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587536G>T | CA2841921256 | KCNQ1 | c.772-34G>T (n.772-34G>T) c.589-34G>T (n.589-34G>T) c.1129-34G>T (n.1129-34G>T) c.748-34G>T (n.748-34G>T) c.235-34G>T (n.235-34G>T) | |
11 | g.2587538A= | CA1948232889 | KCNQ1 | c.772-32A= (n.772-32A=) c.589-32A= (n.589-32A=) c.1129-32A= (n.1129-32A=) c.748-32A= (n.748-32A=) c.235-32A= (n.235-32A=) | |
11 | g.2587538A>G | CA027237 | KCNQ1 | c.772-32A>G (n.772-32A>G) c.589-32A>G (n.589-32A>G) c.1129-32A>G (n.1129-32A>G) c.748-32A>G (n.748-32A>G) c.235-32A>G (n.235-32A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587538A>T | CA2846682459 | KCNQ1 | c.772-32A>T (n.772-32A>T) c.589-32A>T (n.589-32A>T) c.1129-32A>T (n.1129-32A>T) c.748-32A>T (n.748-32A>T) c.235-32A>T (n.235-32A>T) | |
11 | g.2587539G>A | CA597111000 | KCNQ1 | c.772-31G>A (n.772-31G>A) c.589-31G>A (n.589-31G>A) c.1129-31G>A (n.1129-31G>A) c.748-31G>A (n.748-31G>A) c.235-31G>A (n.235-31G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587539G= | CA1948232892 | KCNQ1 | c.772-31G= (n.772-31G=) c.589-31G= (n.589-31G=) c.1129-31G= (n.1129-31G=) c.748-31G= (n.748-31G=) c.235-31G= (n.235-31G=) | |
11 | g.2587539G>T | CA934463816 | KCNQ1 | c.772-31G>T (n.772-31G>T) c.589-31G>T (n.589-31G>T) c.1129-31G>T (n.1129-31G>T) c.748-31G>T (n.748-31G>T) c.235-31G>T (n.235-31G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587540G>A | CA027232 | KCNQ1 | c.772-30G>A (n.772-30G>A) c.589-30G>A (n.589-30G>A) c.1129-30G>A (n.1129-30G>A) c.748-30G>A (n.748-30G>A) c.235-30G>A (n.235-30G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587540G= | CA1948232897 | KCNQ1 | c.772-30G= (n.772-30G=) c.589-30G= (n.589-30G=) c.1129-30G= (n.1129-30G=) c.748-30G= (n.748-30G=) c.235-30G= (n.235-30G=) | |
11 | g.2587542G>A | CA2612003429 | KCNQ1 | c.772-28G>A (n.772-28G>A) c.589-28G>A (n.589-28G>A) c.1129-28G>A (n.1129-28G>A) c.748-28G>A (n.748-28G>A) c.235-28G>A (n.235-28G>A) | gnomAD v4 |
11 | g.2587542G>T | CA2838222898 | KCNQ1 | c.772-28G>T (n.772-28G>T) c.589-28G>T (n.589-28G>T) c.1129-28G>T (n.1129-28G>T) c.748-28G>T (n.748-28G>T) c.235-28G>T (n.235-28G>T) | |
11 | g.2587543A= | CA1948232899 | KCNQ1 | c.772-27A= (n.772-27A=) c.589-27A= (n.589-27A=) c.1129-27A= (n.1129-27A=) c.748-27A= (n.748-27A=) c.235-27A= (n.235-27A=) | |
11 | g.2587543A>C | CA1948232900 | KCNQ1 | c.772-27A>C (n.772-27A>C) c.589-27A>C (n.589-27A>C) c.1129-27A>C (n.1129-27A>C) c.748-27A>C (n.748-27A>C) c.235-27A>C (n.235-27A>C) | dbSNP |
11 | g.2587544C= | CA1948232901 | KCNQ1 | c.772-26C= (n.772-26C=) c.589-26C= (n.589-26C=) c.1129-26C= (n.1129-26C=) c.748-26C= (n.748-26C=) c.235-26C= (n.235-26C=) | |
11 | g.2587544C>T | CA027219 | KCNQ1 | c.772-26C>T (n.772-26C>T) c.589-26C>T (n.589-26C>T) c.1129-26C>T (n.1129-26C>T) c.748-26C>T (n.748-26C>T) c.235-26C>T (n.235-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587545A= | CA1948232902 | KCNQ1 | c.772-25A= (n.772-25A=) c.589-25A= (n.589-25A=) c.1129-25A= (n.1129-25A=) c.748-25A= (n.748-25A=) c.235-25A= (n.235-25A=) | |
11 | g.2587545A>G | CA027212 | KCNQ1 | c.772-25A>G (n.772-25A>G) c.589-25A>G (n.589-25A>G) c.1129-25A>G (n.1129-25A>G) c.748-25A>G (n.748-25A>G) c.235-25A>G (n.235-25A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587546G>T | CA2839487555 | KCNQ1 | c.772-24G>T (n.772-24G>T) c.589-24G>T (n.589-24G>T) c.1129-24G>T (n.1129-24G>T) c.748-24G>T (n.748-24G>T) c.235-24G>T (n.235-24G>T) | |
11 | g.2587548C>A | CA1948232906 | KCNQ1 | c.772-22C>A (n.772-22C>A) c.589-22C>A (n.589-22C>A) c.1129-22C>A (n.1129-22C>A) c.748-22C>A (n.748-22C>A) c.235-22C>A (n.235-22C>A) | dbSNP |
11 | g.2587548C= | CA1948232905 | KCNQ1 | c.772-22C= (n.772-22C=) c.589-22C= (n.589-22C=) c.1129-22C= (n.1129-22C=) c.748-22C= (n.748-22C=) c.235-22C= (n.235-22C=) | |
11 | g.2587548C>G | CA2612003430 | KCNQ1 | c.772-22C>G (n.772-22C>G) c.589-22C>G (n.589-22C>G) c.1129-22C>G (n.1129-22C>G) c.748-22C>G (n.748-22C>G) c.235-22C>G (n.235-22C>G) | gnomAD v4 |
11 | g.2587548C>T | CA2612003431 | KCNQ1 | c.772-22C>T (n.772-22C>T) c.589-22C>T (n.589-22C>T) c.1129-22C>T (n.1129-22C>T) c.748-22C>T (n.748-22C>T) c.235-22C>T (n.235-22C>T) | gnomAD v4 |
11 | g.2587549T>C | CA2841921257 | KCNQ1 | c.772-21T>C (n.772-21T>C) c.589-21T>C (n.589-21T>C) c.1129-21T>C (n.1129-21T>C) c.748-21T>C (n.748-21T>C) c.235-21T>C (n.235-21T>C) | |
11 | g.2587549T>G | CA2574728268 | KCNQ1 | c.772-21T>G (n.772-21T>G) c.589-21T>G (n.589-21T>G) c.1129-21T>G (n.1129-21T>G) c.748-21T>G (n.748-21T>G) c.235-21T>G (n.235-21T>G) | |
11 | g.2587550G>A | CA597111002 | KCNQ1 | c.772-20G>A (n.772-20G>A) c.589-20G>A (n.589-20G>A) c.1129-20G>A (n.1129-20G>A) c.748-20G>A (n.748-20G>A) c.235-20G>A (n.235-20G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587550G>C | CA597111003 | KCNQ1 | c.772-20G>C (n.772-20G>C) c.589-20G>C (n.589-20G>C) c.1129-20G>C (n.1129-20G>C) c.748-20G>C (n.748-20G>C) c.235-20G>C (n.235-20G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587550G= | CA1948232907 | KCNQ1 | c.772-20G= (n.772-20G=) c.589-20G= (n.589-20G=) c.1129-20G= (n.1129-20G=) c.748-20G= (n.748-20G=) c.235-20G= (n.235-20G=) | |
11 | g.2587550G>T | CA2612003432 | KCNQ1 | c.772-20G>T (n.772-20G>T) c.589-20G>T (n.589-20G>T) c.1129-20G>T (n.1129-20G>T) c.748-20G>T (n.748-20G>T) c.235-20G>T (n.235-20G>T) | gnomAD v4 |
11 | g.2587551T>C | CA2612003434 | KCNQ1 | c.772-19T>C (n.772-19T>C) c.589-19T>C (n.589-19T>C) c.1129-19T>C (n.1129-19T>C) c.748-19T>C (n.748-19T>C) c.235-19T>C (n.235-19T>C) | gnomAD v4 |
11 | g.2587551T>G | CA2612003435 | KCNQ1 | c.772-19T>G (n.772-19T>G) c.589-19T>G (n.589-19T>G) c.1129-19T>G (n.1129-19T>G) c.748-19T>G (n.748-19T>G) c.235-19T>G (n.235-19T>G) | gnomAD v4 |
11 | g.2587552C>A | CA2612003436 | KCNQ1 | c.772-18C>A (n.772-18C>A) c.589-18C>A (n.589-18C>A) c.1129-18C>A (n.1129-18C>A) c.748-18C>A (n.748-18C>A) c.235-18C>A (n.235-18C>A) | gnomAD v4 |
11 | g.2587552C= | CA1948232908 | KCNQ1 | c.772-18C= (n.772-18C=) c.589-18C= (n.589-18C=) c.1129-18C= (n.1129-18C=) c.748-18C= (n.748-18C=) c.235-18C= (n.235-18C=) | |
11 | g.2587552C>T | CA597111004 | KCNQ1 | c.772-18C>T (n.772-18C>T) c.589-18C>T (n.589-18C>T) c.1129-18C>T (n.1129-18C>T) c.748-18C>T (n.748-18C>T) c.235-18C>T (n.235-18C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587556del | CA2839537067 | KCNQ1 | c.772-14del (n.772-14del) c.589-14del (n.589-14del) c.1129-14del (n.1129-14del) c.748-14del (n.748-14del) c.235-14del (n.235-14del) | |
11 | g.2587553C>A | CA027208 | KCNQ1 | c.772-17C>A (n.772-17C>A) c.589-17C>A (n.589-17C>A) c.1129-17C>A (n.1129-17C>A) c.748-17C>A (n.748-17C>A) c.235-17C>A (n.235-17C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587553C= | CA1948232912 | KCNQ1 | c.772-17C= (n.772-17C=) c.589-17C= (n.589-17C=) c.1129-17C= (n.1129-17C=) c.748-17C= (n.748-17C=) c.235-17C= (n.235-17C=) | |
11 | g.2587553C>T | CA1948232916 | KCNQ1 | c.772-17C>T (n.772-17C>T) c.589-17C>T (n.589-17C>T) c.1129-17C>T (n.1129-17C>T) c.748-17C>T (n.748-17C>T) c.235-17C>T (n.235-17C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2587554C= | CA1948232921 | KCNQ1 | c.772-16C= (n.772-16C=) c.589-16C= (n.589-16C=) c.1129-16C= (n.1129-16C=) c.748-16C= (n.748-16C=) c.235-16C= (n.235-16C=) | |
11 | g.2587554C>G | CA1948232922 | KCNQ1 | c.772-16C>G (n.772-16C>G) c.589-16C>G (n.589-16C>G) c.1129-16C>G (n.1129-16C>G) c.748-16C>G (n.748-16C>G) c.235-16C>G (n.235-16C>G) | dbSNP gnomAD v4 |
11 | g.2587555C= | CA1948232924 | KCNQ1 | c.772-15C= (n.772-15C=) c.589-15C= (n.589-15C=) c.1129-15C= (n.1129-15C=) c.748-15C= (n.748-15C=) c.235-15C= (n.235-15C=) | |
11 | g.2587555C>G | CA1948232927 | KCNQ1 | c.772-15C>G (n.772-15C>G) c.589-15C>G (n.589-15C>G) c.1129-15C>G (n.1129-15C>G) c.748-15C>G (n.748-15C>G) c.235-15C>G (n.235-15C>G) | dbSNP gnomAD v4 |
11 | g.2587555C>T | CA2574728287 | KCNQ1 | c.772-15C>T (n.772-15C>T) c.589-15C>T (n.589-15C>T) c.1129-15C>T (n.1129-15C>T) c.748-15C>T (n.748-15C>T) c.235-15C>T (n.235-15C>T) | dbSNP gnomAD v4 |
11 | g.2587556C>A | CA2841921258 | KCNQ1 | c.772-14C>A (n.772-14C>A) c.589-14C>A (n.589-14C>A) c.1129-14C>A (n.1129-14C>A) c.748-14C>A (n.748-14C>A) c.235-14C>A (n.235-14C>A) | |
11 | g.2587556C= | CA1948232928 | KCNQ1 | c.772-14C= (n.772-14C=) c.589-14C= (n.589-14C=) c.1129-14C= (n.1129-14C=) c.748-14C= (n.748-14C=) c.235-14C= (n.235-14C=) | |
11 | g.2587556C>T | CA934463819 | KCNQ1 | c.772-14C>T (n.772-14C>T) c.589-14C>T (n.589-14C>T) c.1129-14C>T (n.1129-14C>T) c.748-14C>T (n.748-14C>T) c.235-14C>T (n.235-14C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587557del | CA2612003437 | KCNQ1 | c.772-13del (n.772-13del) c.589-13del (n.589-13del) c.1129-13del (n.1129-13del) c.748-13del (n.748-13del) c.235-13del (n.235-13del) | gnomAD v4 |
11 | g.2587558G>A | CA597111006 | KCNQ1 | c.772-12G>A (n.772-12G>A) c.589-12G>A (n.589-12G>A) c.1129-12G>A (n.1129-12G>A) c.748-12G>A (n.748-12G>A) c.235-12G>A (n.235-12G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587558G>C | CA216332477 | KCNQ1 | c.772-12G>C (n.772-12G>C) c.589-12G>C (n.589-12G>C) c.1129-12G>C (n.1129-12G>C) c.748-12G>C (n.748-12G>C) c.235-12G>C (n.235-12G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587558G= | CA1948232933 | KCNQ1 | c.772-12G= (n.772-12G=) c.589-12G= (n.589-12G=) c.1129-12G= (n.1129-12G=) c.748-12G= (n.748-12G=) c.235-12G= (n.235-12G=) | |
11 | g.2587558G>T | CA653929673 | KCNQ1 | c.772-12G>T (n.772-12G>T) c.589-12G>T (n.589-12G>T) c.1129-12G>T (n.1129-12G>T) c.748-12G>T (n.748-12G>T) c.235-12G>T (n.235-12G>T) | COSMIC |
11 | g.2587559C>A | CA2790203536 | KCNQ1 | c.772-11C>A (n.772-11C>A) c.589-11C>A (n.589-11C>A) c.1129-11C>A (n.1129-11C>A) c.748-11C>A (n.748-11C>A) c.235-11C>A (n.235-11C>A) | |
11 | g.2587559C= | CA1948232936 | KCNQ1 | c.772-11C= (n.772-11C=) c.589-11C= (n.589-11C=) c.1129-11C= (n.1129-11C=) c.748-11C= (n.748-11C=) c.235-11C= (n.235-11C=) | |
11 | g.2587559C>T | CA027200 | KCNQ1 | c.772-11C>T (n.772-11C>T) c.589-11C>T (n.589-11C>T) c.1129-11C>T (n.1129-11C>T) c.748-11C>T (n.748-11C>T) c.235-11C>T (n.235-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587560C>G | CA2612003439 | KCNQ1 | c.772-10C>G (n.772-10C>G) c.589-10C>G (n.589-10C>G) c.1129-10C>G (n.1129-10C>G) c.748-10C>G (n.748-10C>G) c.235-10C>G (n.235-10C>G) | gnomAD v4 |
11 | g.2587561C>A | CA2841921259 | KCNQ1 | c.772-9C>A (n.772-9C>A) c.589-9C>A (n.589-9C>A) c.1129-9C>A (n.1129-9C>A) c.748-9C>A (n.748-9C>A) c.235-9C>A (n.235-9C>A) | |
11 | g.2587561C= | CA1948232942 | KCNQ1 | c.772-9C= (n.772-9C=) c.589-9C= (n.589-9C=) c.1129-9C= (n.1129-9C=) c.748-9C= (n.748-9C=) c.235-9C= (n.235-9C=) | |
11 | g.2587561C>T | CA027332 | KCNQ1 | c.772-9C>T (n.772-9C>T) c.589-9C>T (n.589-9C>T) c.1129-9C>T (n.1129-9C>T) c.748-9C>T (n.748-9C>T) c.235-9C>T (n.235-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587562G>A | CA027313 | KCNQ1 | c.772-8G>A (n.772-8G>A) c.589-8G>A (n.589-8G>A) c.1129-8G>A (n.1129-8G>A) c.748-8G>A (n.748-8G>A) c.235-8G>A (n.235-8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587562G>C | CA934463828 | KCNQ1 | c.772-8G>C (n.772-8G>C) c.589-8G>C (n.589-8G>C) c.1129-8G>C (n.1129-8G>C) c.748-8G>C (n.748-8G>C) c.235-8G>C (n.235-8G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587562G= | CA1948232957 | KCNQ1 | c.772-8G= (n.772-8G=) c.589-8G= (n.589-8G=) c.1129-8G= (n.1129-8G=) c.748-8G= (n.748-8G=) c.235-8G= (n.235-8G=) | |
11 | g.2587562G>T | CA027324 | KCNQ1 | c.772-8G>T (n.772-8G>T) c.589-8G>T (n.589-8G>T) c.1129-8G>T (n.1129-8G>T) c.748-8G>T (n.748-8G>T) c.235-8G>T (n.235-8G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587563A= | CA1948232967 | KCNQ1 | c.772-7A= (n.772-7A=) c.589-7A= (n.589-7A=) c.1129-7A= (n.1129-7A=) c.748-7A= (n.748-7A=) c.235-7A= (n.235-7A=) | |
11 | g.2587563A>C | CA1948232970 | KCNQ1 | c.772-7A>C (n.772-7A>C) c.589-7A>C (n.589-7A>C) c.1129-7A>C (n.1129-7A>C) c.748-7A>C (n.748-7A>C) c.235-7A>C (n.235-7A>C) | dbSNP |
11 | g.2587563A>G | CA027302 | KCNQ1 | c.772-7A>G (n.772-7A>G) c.589-7A>G (n.589-7A>G) c.1129-7A>G (n.1129-7A>G) c.748-7A>G (n.748-7A>G) c.235-7A>G (n.235-7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587564C>A | CA2612003440 | KCNQ1 | c.772-6C>A (n.772-6C>A) c.589-6C>A (n.589-6C>A) c.1129-6C>A (n.1129-6C>A) c.748-6C>A (n.748-6C>A) c.235-6C>A (n.235-6C>A) | gnomAD v4 |
11 | g.2587565C>A | CA2612003442 | KCNQ1 | c.772-5C>A (n.772-5C>A) c.589-5C>A (n.589-5C>A) c.1129-5C>A (n.1129-5C>A) c.748-5C>A (n.748-5C>A) c.235-5C>A (n.235-5C>A) | gnomAD v4 |
11 | g.2587565C>G | CA2612003441 | KCNQ1 | c.772-5C>G (n.772-5C>G) c.589-5C>G (n.589-5C>G) c.1129-5C>G (n.1129-5C>G) c.748-5C>G (n.748-5C>G) c.235-5C>G (n.235-5C>G) | gnomAD v4 |
11 | g.2587566_2587592del | CA2740093574 | KCNQ1 | c.772-4_794del c.589-4_611del c.1129-4_1151del c.748-4_770del c.235-4_257del | ClinVar |
11 | g.2587567C>T | CA2612003443 | KCNQ1 | c.772-3C>T (n.772-3C>T) c.589-3C>T (n.589-3C>T) c.1129-3C>T (n.1129-3C>T) c.748-3C>T (n.748-3C>T) c.235-3C>T (n.235-3C>T) | gnomAD v4 |
11 | g.2587568A= | CA1948232974 | KCNQ1 | c.772-2A= (n.772-2A=) c.589-2A= (n.589-2A=) c.1129-2A= (n.1129-2A=) c.748-2A= (n.748-2A=) c.235-2A= (n.235-2A=) | |
11 | g.2587568A>C | CA379134608 | KCNQ1 | c.772-2A>C (n.772-2A>C) c.589-2A>C (n.589-2A>C) c.1129-2A>C (n.1129-2A>C) c.748-2A>C (n.748-2A>C) c.235-2A>C (n.235-2A>C) | |
11 | g.2587568A>G | CA027224 | KCNQ1 | c.772-2A>G (n.772-2A>G) c.589-2A>G (n.589-2A>G) c.1129-2A>G (n.1129-2A>G) c.748-2A>G (n.748-2A>G) c.235-2A>G (n.235-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587568A>T | CA379134611 | KCNQ1 | c.772-2A>T (n.772-2A>T) c.589-2A>T (n.589-2A>T) c.1129-2A>T (n.1129-2A>T) c.748-2A>T (n.748-2A>T) c.235-2A>T (n.235-2A>T) | |
11 | g.2587569G>A | CA379134613 | KCNQ1 | c.772-1G>A (n.772-1G>A) c.589-1G>A (n.589-1G>A) c.1129-1G>A (n.1129-1G>A) c.748-1G>A (n.748-1G>A) c.235-1G>A (n.235-1G>A) | |
11 | g.2587569G>C | CA379134615 | KCNQ1 | c.772-1G>C (n.772-1G>C) c.589-1G>C (n.589-1G>C) c.1129-1G>C (n.1129-1G>C) c.748-1G>C (n.748-1G>C) c.235-1G>C (n.235-1G>C) | |
11 | g.2587569G>T | CA379134617 | KCNQ1 | c.772-1G>T (n.772-1G>T) c.589-1G>T (n.589-1G>T) c.1129-1G>T (n.1129-1G>T) c.748-1G>T (n.748-1G>T) c.235-1G>T (n.235-1G>T) | |
11 | g.2587570A>C | CA379134619 | KCNQ1 | c.772A>C (p.Thr258Pro) c.589A>C (p.Thr197Pro) c.1129A>C (p.Thr377Pro) c.748A>C (p.Thr250Pro) c.235A>C (p.Thr79Pro) | |
11 | g.2587570A>G | CA379134623 | KCNQ1 | c.772A>G (p.Thr258Ala) c.589A>G (p.Thr197Ala) c.1129A>G (p.Thr377Ala) c.748A>G (p.Thr250Ala) c.235A>G (p.Thr79Ala) | |
11 | g.2587570A>T | CA379134621 | KCNQ1 | c.772A>T (p.Thr258Ser) c.589A>T (p.Thr197Ser) c.1129A>T (p.Thr377Ser) c.748A>T (p.Thr250Ser) c.235A>T (p.Thr79Ser) | |
11 | g.2587571C>A | CA379134627 | KCNQ1 | c.773C>A (p.Thr258Asn) c.590C>A (p.Thr197Asn) c.1130C>A (p.Thr377Asn) c.749C>A (p.Thr250Asn) c.236C>A (p.Thr79Asn) | |
11 | g.2587571C>G | CA379134628 | KCNQ1 | c.773C>G (p.Thr258Ser) c.590C>G (p.Thr197Ser) c.1130C>G (p.Thr377Ser) c.749C>G (p.Thr250Ser) c.236C>G (p.Thr79Ser) | |
11 | g.2587571C>T | CA379134631 | KCNQ1 | c.773C>T (p.Thr258Ile) c.590C>T (p.Thr197Ile) c.1130C>T (p.Thr377Ile) c.749C>T (p.Thr250Ile) c.236C>T (p.Thr79Ile) | |
11 | g.2587572C>A | CA472039002 | KCNQ1 | c.774C>A (p.Thr258=) c.591C>A (p.Thr197=) c.1131C>A (p.Thr377=) c.750C>A (p.Thr250=) c.237C>A (p.Thr79=) | |
11 | g.2587572C= | CA1948232984 | KCNQ1 | c.774C= (p.Thr258=) c.591C= (p.Thr197=) c.1131C= (p.Thr377=) c.750C= (p.Thr250=) c.237C= (p.Thr79=) | |
11 | g.2587572C>G | CA472039004 | KCNQ1 | c.774C>G (p.Thr258=) c.591C>G (p.Thr197=) c.1131C>G (p.Thr377=) c.750C>G (p.Thr250=) c.237C>G (p.Thr79=) | |
11 | g.2587572C>T | CA027342 | KCNQ1 | c.774C>T (p.Thr258=) c.591C>T (p.Thr197=) c.1131C>T (p.Thr377=) c.750C>T (p.Thr250=) c.237C>T (p.Thr79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587573G>A | CA027352 | KCNQ1 | c.775G>A (p.Ala259Thr) c.592G>A (p.Ala198Thr) c.1132G>A (p.Ala378Thr) c.751G>A (p.Ala251Thr) c.238G>A (p.Ala80Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2587573G>C | CA379134638 | KCNQ1 | c.775G>C (p.Ala259Pro) c.592G>C (p.Ala198Pro) c.1132G>C (p.Ala378Pro) c.751G>C (p.Ala251Pro) c.238G>C (p.Ala80Pro) | ClinVar |
11 | g.2587573G= | CA1948232987 | KCNQ1 | c.775G= (p.Ala259=) c.592G= (p.Ala198=) c.1132G= (p.Ala378=) c.751G= (p.Ala251=) c.238G= (p.Ala80=) | |
11 | g.2587573G>T | CA379134636 | KCNQ1 | c.775G>T (p.Ala259Ser) c.592G>T (p.Ala198Ser) c.1132G>T (p.Ala378Ser) c.751G>T (p.Ala251Ser) c.238G>T (p.Ala80Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.2587574C>A | CA379134640 | KCNQ1 | c.776C>A (p.Ala259Glu) c.593C>A (p.Ala198Glu) c.1133C>A (p.Ala378Glu) c.752C>A (p.Ala251Glu) c.239C>A (p.Ala80Glu) | |
11 | g.2587574C>G | CA379134642 | KCNQ1 | c.776C>G (p.Ala259Gly) c.593C>G (p.Ala198Gly) c.1133C>G (p.Ala378Gly) c.752C>G (p.Ala251Gly) c.239C>G (p.Ala80Gly) | |
11 | g.2587574C>T | CA379134644 | KCNQ1 | c.776C>T (p.Ala259Val) c.593C>T (p.Ala198Val) c.1133C>T (p.Ala378Val) c.752C>T (p.Ala251Val) c.239C>T (p.Ala80Val) | |
11 | g.2587575A>C | CA472039010 | KCNQ1 | c.777A>C (p.Ala259=) c.594A>C (p.Ala198=) c.1134A>C (p.Ala378=) c.753A>C (p.Ala251=) c.240A>C (p.Ala80=) | |
11 | g.2587575A>G | CA472039011 | KCNQ1 | c.777A>G (p.Ala259=) c.594A>G (p.Ala198=) c.1134A>G (p.Ala378=) c.753A>G (p.Ala251=) c.240A>G (p.Ala80=) | ClinVar gnomAD v4 |
11 | g.2587575A>T | CA472039012 | KCNQ1 | c.777A>T (p.Ala259=) c.594A>T (p.Ala198=) c.1134A>T (p.Ala378=) c.753A>T (p.Ala251=) c.240A>T (p.Ala80=) | ClinVar dbSNP |
11 | g.2587576T>A | CA379134646 | KCNQ1 | c.778T>A (p.Trp260Arg) c.595T>A (p.Trp199Arg) c.1135T>A (p.Trp379Arg) c.754T>A (p.Trp252Arg) c.241T>A (p.Trp81Arg) | |
11 | g.2587576T>C | CA005370 | KCNQ1 | c.778T>C (p.Trp260Arg) c.595T>C (p.Trp199Arg) c.1135T>C (p.Trp379Arg) c.754T>C (p.Trp252Arg) c.241T>C (p.Trp81Arg) | ClinVar dbSNP |
11 | g.2587576T>G | CA005377 | KCNQ1 | c.778T>G (p.Trp260Gly) c.595T>G (p.Trp199Gly) c.1135T>G (p.Trp379Gly) c.754T>G (p.Trp252Gly) c.241T>G (p.Trp81Gly) | ClinVar dbSNP |
11 | g.2587576T= | CA1948232996 | KCNQ1 | c.778T= (p.Trp260=) c.595T= (p.Trp199=) c.1135T= (p.Trp379=) c.754T= (p.Trp252=) c.241T= (p.Trp81=) | |
11 | g.2587577G>A | CA379134650 | KCNQ1 | c.779G>A (p.Trp260Ter) c.596G>A (p.Trp199Ter) c.1136G>A (p.Trp379Ter) c.755G>A (p.Trp252Ter) c.242G>A (p.Trp81Ter) | COSMIC COSMIC |
11 | g.2587577G>C | CA005382 | KCNQ1 | c.779G>C (p.Trp260Ser) c.596G>C (p.Trp199Ser) c.1136G>C (p.Trp379Ser) c.755G>C (p.Trp252Ser) c.242G>C (p.Trp81Ser) | ClinVar dbSNP |
11 | g.2587577G= | CA1948233005 | KCNQ1 | c.779G= (p.Trp260=) c.596G= (p.Trp199=) c.1136G= (p.Trp379=) c.755G= (p.Trp252=) c.242G= (p.Trp81=) | |
11 | g.2587577G>T | CA379134652 | KCNQ1 | c.779G>T (p.Trp260Leu) c.596G>T (p.Trp199Leu) c.1136G>T (p.Trp379Leu) c.755G>T (p.Trp252Leu) c.242G>T (p.Trp81Leu) | |
11 | g.2587578G>A | CA216332635 | KCNQ1 | c.780G>A (p.Trp260Ter) c.597G>A (p.Trp199Ter) c.1137G>A (p.Trp379Ter) c.756G>A (p.Trp252Ter) c.243G>A (p.Trp81Ter) | dbSNP gnomAD v4 |
11 | g.2587578G>C | CA379134653 | KCNQ1 | c.780G>C (p.Trp260Cys) c.597G>C (p.Trp199Cys) c.1137G>C (p.Trp379Cys) c.756G>C (p.Trp252Cys) c.243G>C (p.Trp81Cys) | |
11 | g.2587578G= | CA1948233011 | KCNQ1 | c.780G= (p.Trp260=) c.597G= (p.Trp199=) c.1137G= (p.Trp379=) c.756G= (p.Trp252=) c.243G= (p.Trp81=) | |
11 | g.2587578G>T | CA379134654 | KCNQ1 | c.780G>T (p.Trp260Cys) c.597G>T (p.Trp199Cys) c.1137G>T (p.Trp379Cys) c.756G>T (p.Trp252Cys) c.243G>T (p.Trp81Cys) | |
11 | g.2587579A= | CA1948233022 | KCNQ1 | c.781A= (p.Arg261=) c.598A= (p.Arg200=) c.1138A= (p.Arg380=) c.757A= (p.Arg253=) c.244A= (p.Arg82=) | |
11 | g.2587579A>C | CA472039021 | KCNQ1 | c.781A>C (p.Arg261=) c.598A>C (p.Arg200=) c.1138A>C (p.Arg380=) c.757A>C (p.Arg253=) c.244A>C (p.Arg82=) | |
11 | g.2587579A>G | CA005387 | KCNQ1 | c.781A>G (p.Arg261Gly) c.598A>G (p.Arg200Gly) c.1138A>G (p.Arg380Gly) c.757A>G (p.Arg253Gly) c.244A>G (p.Arg82Gly) | ClinVar dbSNP |
11 | g.2587579A>T | CA379134655 | KCNQ1 | c.781A>T (p.Arg261Trp) c.598A>T (p.Arg200Trp) c.1138A>T (p.Arg380Trp) c.757A>T (p.Arg253Trp) c.244A>T (p.Arg82Trp) | ClinVar dbSNP |
11 | g.2587580G>A | CA379134656 | KCNQ1 | c.782G>A (p.Arg261Lys) c.599G>A (p.Arg200Lys) c.1139G>A (p.Arg380Lys) c.758G>A (p.Arg253Lys) c.245G>A (p.Arg82Lys) | ClinVar dbSNP |
11 | g.2587580G>C | CA379134657 | KCNQ1 | c.782G>C (p.Arg261Thr) c.599G>C (p.Arg200Thr) c.1139G>C (p.Arg380Thr) c.758G>C (p.Arg253Thr) c.245G>C (p.Arg82Thr) | |
11 | g.2587580G= | CA1948233033 | KCNQ1 | c.782G= (p.Arg261=) c.599G= (p.Arg200=) c.1139G= (p.Arg380=) c.758G= (p.Arg253=) c.245G= (p.Arg82=) | |
11 | g.2587580G>T | CA379134658 | KCNQ1 | c.782G>T (p.Arg261Met) c.599G>T (p.Arg200Met) c.1139G>T (p.Arg380Met) c.758G>T (p.Arg253Met) c.245G>T (p.Arg82Met) | |
11 | g.2587581G>A | CA10587113 | KCNQ1 | c.783G>A (p.Arg261=) c.600G>A (p.Arg200=) c.1140G>A (p.Arg380=) c.759G>A (p.Arg253=) c.246G>A (p.Arg82=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2587581G>C | CA379134659 | KCNQ1 | c.783G>C (p.Arg261Ser) c.600G>C (p.Arg200Ser) c.1140G>C (p.Arg380Ser) c.759G>C (p.Arg253Ser) c.246G>C (p.Arg82Ser) | |
11 | g.2587581G= | CA1948233040 | KCNQ1 | c.783G= (p.Arg261=) c.600G= (p.Arg200=) c.1140G= (p.Arg380=) c.759G= (p.Arg253=) c.246G= (p.Arg82=) | |
11 | g.2587581G>T | CA005394 | KCNQ1 | c.783G>T (p.Arg261Ser) c.600G>T (p.Arg200Ser) c.1140G>T (p.Arg380Ser) c.759G>T (p.Arg253Ser) c.246G>T (p.Arg82Ser) | ClinVar dbSNP |
11 | g.2587582T>A | CA379134662 | KCNQ1 | c.784T>A (p.Cys262Ser) c.601T>A (p.Cys201Ser) c.1141T>A (p.Cys381Ser) c.760T>A (p.Cys254Ser) c.247T>A (p.Cys83Ser) | |
11 | g.2587582T>C | CA379134660 | KCNQ1 | c.784T>C (p.Cys262Arg) c.601T>C (p.Cys201Arg) c.1141T>C (p.Cys381Arg) c.760T>C (p.Cys254Arg) c.247T>C (p.Cys83Arg) | |
11 | g.2587582T>G | CA379134661 | KCNQ1 | c.784T>G (p.Cys262Gly) c.601T>G (p.Cys201Gly) c.1141T>G (p.Cys381Gly) c.760T>G (p.Cys254Gly) c.247T>G (p.Cys83Gly) | |
11 | g.2587583G>A | CA005402 | KCNQ1 | c.785G>A (p.Cys262Tyr) c.602G>A (p.Cys201Tyr) c.1142G>A (p.Cys381Tyr) c.761G>A (p.Cys254Tyr) c.248G>A (p.Cys83Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587583G>C | CA379134663 | KCNQ1 | c.785G>C (p.Cys262Ser) c.602G>C (p.Cys201Ser) c.1142G>C (p.Cys381Ser) c.761G>C (p.Cys254Ser) c.248G>C (p.Cys83Ser) | |
11 | g.2587583G= | CA1948233052 | KCNQ1 | c.785G= (p.Cys262=) c.602G= (p.Cys201=) c.1142G= (p.Cys381=) c.761G= (p.Cys254=) c.248G= (p.Cys83=) | |
11 | g.2587583G>T | CA379134664 | KCNQ1 | c.785G>T (p.Cys262Phe) c.602G>T (p.Cys201Phe) c.1142G>T (p.Cys381Phe) c.761G>T (p.Cys254Phe) c.248G>T (p.Cys83Phe) | gnomAD v4 |
11 | g.2587584C>A | CA379134665 | KCNQ1 | c.786C>A (p.Cys262Ter) c.603C>A (p.Cys201Ter) c.1143C>A (p.Cys381Ter) c.762C>A (p.Cys254Ter) c.249C>A (p.Cys83Ter) | |
11 | g.2587584C= | CA1948233059 | KCNQ1 | c.786C= (p.Cys262=) c.603C= (p.Cys201=) c.1143C= (p.Cys381=) c.762C= (p.Cys254=) c.249C= (p.Cys83=) | |
11 | g.2587584C>G | CA379134666 | KCNQ1 | c.786C>G (p.Cys262Trp) c.603C>G (p.Cys201Trp) c.1143C>G (p.Cys381Trp) c.762C>G (p.Cys254Trp) c.249C>G (p.Cys83Trp) | ClinVar dbSNP gnomAD v4 |
11 | g.2587584C>T | CA472039031 | KCNQ1 | c.786C>T (p.Cys262=) c.603C>T (p.Cys201=) c.1143C>T (p.Cys381=) c.762C>T (p.Cys254=) c.249C>T (p.Cys83=) | |
11 | g.2587585T>A | CA379134667 | KCNQ1 | c.787T>A (p.Tyr263Asn) c.604T>A (p.Tyr202Asn) c.1144T>A (p.Tyr382Asn) c.763T>A (p.Tyr255Asn) c.250T>A (p.Tyr84Asn) | |
11 | g.2587585T>C | CA379134669 | KCNQ1 | c.787T>C (p.Tyr263His) c.604T>C (p.Tyr202His) c.1144T>C (p.Tyr382His) c.763T>C (p.Tyr255His) c.250T>C (p.Tyr84His) | gnomAD v4 |
11 | g.2587585T>G | CA379134668 | KCNQ1 | c.787T>G (p.Tyr263Asp) c.604T>G (p.Tyr202Asp) c.1144T>G (p.Tyr382Asp) c.763T>G (p.Tyr255Asp) c.250T>G (p.Tyr84Asp) | |
11 | g.2587586A>C | CA379134670 | KCNQ1 | c.788A>C (p.Tyr263Ser) c.605A>C (p.Tyr202Ser) c.1145A>C (p.Tyr382Ser) c.764A>C (p.Tyr255Ser) c.251A>C (p.Tyr84Ser) | |
11 | g.2587586A>G | CA379134671 | KCNQ1 | c.788A>G (p.Tyr263Cys) c.605A>G (p.Tyr202Cys) c.1145A>G (p.Tyr382Cys) c.764A>G (p.Tyr255Cys) c.251A>G (p.Tyr84Cys) | ClinVar |
11 | g.2587586A>T | CA379134672 | KCNQ1 | c.788A>T (p.Tyr263Phe) c.605A>T (p.Tyr202Phe) c.1145A>T (p.Tyr382Phe) c.764A>T (p.Tyr255Phe) c.251A>T (p.Tyr84Phe) | |
11 | g.2587587T>A | CA379134673 | KCNQ1 | c.789T>A (p.Tyr263Ter) c.606T>A (p.Tyr202Ter) c.1146T>A (p.Tyr382Ter) c.765T>A (p.Tyr255Ter) c.252T>A (p.Tyr84Ter) | |
11 | g.2587587T>C | CA472039037 | KCNQ1 | c.789T>C (p.Tyr263=) c.606T>C (p.Tyr202=) c.1146T>C (p.Tyr382=) c.765T>C (p.Tyr255=) c.252T>C (p.Tyr84=) | ClinVar dbSNP gnomAD v4 |
11 | g.2587587T>G | CA379134674 | KCNQ1 | c.789T>G (p.Tyr263Ter) c.606T>G (p.Tyr202Ter) c.1146T>G (p.Tyr382Ter) c.765T>G (p.Tyr255Ter) c.252T>G (p.Tyr84Ter) | |
11 | g.2587588G>A | CA379134675 | KCNQ1 | c.790G>A (p.Ala264Thr) c.607G>A (p.Ala203Thr) c.1147G>A (p.Ala383Thr) c.766G>A (p.Ala256Thr) c.253G>A (p.Ala85Thr) | |
11 | g.2587588G>C | CA379134676 | KCNQ1 | c.790G>C (p.Ala264Pro) c.607G>C (p.Ala203Pro) c.1147G>C (p.Ala383Pro) c.766G>C (p.Ala256Pro) c.253G>C (p.Ala85Pro) | |
11 | g.2587588G>T | CA379134677 | KCNQ1 | c.790G>T (p.Ala264Ser) c.607G>T (p.Ala203Ser) c.1147G>T (p.Ala383Ser) c.766G>T (p.Ala256Ser) c.253G>T (p.Ala85Ser) | |
11 | g.2587589C>A | CA379134678 | KCNQ1 | c.791C>A (p.Ala264Asp) c.608C>A (p.Ala203Asp) c.1148C>A (p.Ala383Asp) c.767C>A (p.Ala256Asp) c.254C>A (p.Ala85Asp) | |
11 | g.2587589C= | CA1948233067 | KCNQ1 | c.791C= (p.Ala264=) c.608C= (p.Ala203=) c.1148C= (p.Ala383=) c.767C= (p.Ala256=) c.254C= (p.Ala85=) | |
11 | g.2587589C>G | CA379134679 | KCNQ1 | c.791C>G (p.Ala264Gly) c.608C>G (p.Ala203Gly) c.1148C>G (p.Ala383Gly) c.767C>G (p.Ala256Gly) c.254C>G (p.Ala85Gly) | |
11 | g.2587589C>T | CA379134680 | KCNQ1 | c.791C>T (p.Ala264Val) c.608C>T (p.Ala203Val) c.1148C>T (p.Ala383Val) c.767C>T (p.Ala256Val) c.254C>T (p.Ala85Val) | |
11 | g.2587589dup | CA2573146068 | KCNQ1 | c.791dup (p.Ala265CysfsTer?) c.608dup (p.Ala204CysfsTer?) c.1148dup (p.Ala384CysfsTer?) c.767dup (p.Ala257CysfsTer?) c.254dup (p.Ala86CysfsTer?) | ClinVar dbSNP |
11 | g.2587590T>A | CA472039044 | KCNQ1 | c.792T>A (p.Ala264=) c.609T>A (p.Ala203=) c.1149T>A (p.Ala383=) c.768T>A (p.Ala256=) c.255T>A (p.Ala85=) | |
11 | g.2587590T>C | CA472039046 | KCNQ1 | c.792T>C (p.Ala264=) c.609T>C (p.Ala203=) c.1149T>C (p.Ala383=) c.768T>C (p.Ala256=) c.255T>C (p.Ala85=) | |
11 | g.2587590T>G | CA472039047 | KCNQ1 | c.792T>G (p.Ala264=) c.609T>G (p.Ala203=) c.1149T>G (p.Ala383=) c.768T>G (p.Ala256=) c.255T>G (p.Ala85=) | |
11 | g.2587590dup | CA005409 | KCNQ1 | c.792dup (p.Ala265CysfsTer?) c.609dup (p.Ala204CysfsTer?) c.1149dup (p.Ala384CysfsTer?) c.768dup (p.Ala257CysfsTer?) c.255dup (p.Ala86CysfsTer?) | ClinVar dbSNP |
11 | g.2587591G>A | CA379134681 | KCNQ1 | c.793G>A (p.Ala265Thr) c.610G>A (p.Ala204Thr) c.1150G>A (p.Ala384Thr) c.769G>A (p.Ala257Thr) c.256G>A (p.Ala86Thr) | ClinVar dbSNP |
11 | g.2587591G>C | CA379134683 | KCNQ1 | c.793G>C (p.Ala265Pro) c.610G>C (p.Ala204Pro) c.1150G>C (p.Ala384Pro) c.769G>C (p.Ala257Pro) c.256G>C (p.Ala86Pro) | |
11 | g.2587591G= | CA1948233079 | KCNQ1 | c.793G= (p.Ala265=) c.610G= (p.Ala204=) c.1150G= (p.Ala384=) c.769G= (p.Ala257=) c.256G= (p.Ala86=) | |
11 | g.2587591G>T | CA379134682 | KCNQ1 | c.793G>T (p.Ala265Ser) c.610G>T (p.Ala204Ser) c.1150G>T (p.Ala384Ser) c.769G>T (p.Ala257Ser) c.256G>T (p.Ala86Ser) | |
11 | g.2587592C>A | CA379134684 | KCNQ1 | c.794C>A (p.Ala265Asp) c.611C>A (p.Ala204Asp) c.1151C>A (p.Ala384Asp) c.770C>A (p.Ala257Asp) c.257C>A (p.Ala86Asp) | |
11 | g.2587592C>G | CA379134686 | KCNQ1 | c.794C>G (p.Ala265Gly) c.611C>G (p.Ala204Gly) c.1151C>G (p.Ala384Gly) c.770C>G (p.Ala257Gly) c.257C>G (p.Ala86Gly) | |
11 | g.2587592C>T | CA379134685 | KCNQ1 | c.794C>T (p.Ala265Val) c.611C>T (p.Ala204Val) c.1151C>T (p.Ala384Val) c.770C>T (p.Ala257Val) c.257C>T (p.Ala86Val) | COSMIC COSMIC |
11 | g.2587593C>A | CA472039055 | KCNQ1 | c.795C>A (p.Ala265=) c.612C>A (p.Ala204=) c.1152C>A (p.Ala384=) c.771C>A (p.Ala257=) c.258C>A (p.Ala86=) | |
11 | g.2587593C= | CA1948233090 | KCNQ1 | c.795C= (p.Ala265=) c.612C= (p.Ala204=) c.1152C= (p.Ala384=) c.771C= (p.Ala257=) c.258C= (p.Ala86=) | |
11 | g.2587593C>G | CA472039057 | KCNQ1 | c.795C>G (p.Ala265=) c.612C>G (p.Ala204=) c.1152C>G (p.Ala384=) c.771C>G (p.Ala257=) c.258C>G (p.Ala86=) | |
11 | g.2587593C>T | CA027413 | KCNQ1 | c.795C>T (p.Ala265=) c.612C>T (p.Ala204=) c.1152C>T (p.Ala384=) c.771C>T (p.Ala257=) c.258C>T (p.Ala86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587594G>A | CA005418 | KCNQ1 | c.796G>A (p.Glu266Lys) c.613G>A (p.Glu205Lys) c.1153G>A (p.Glu385Lys) c.772G>A (p.Glu258Lys) c.259G>A (p.Glu87Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587594G>C | CA379134687 | KCNQ1 | c.796G>C (p.Glu266Gln) c.613G>C (p.Glu205Gln) c.1153G>C (p.Glu385Gln) c.772G>C (p.Glu258Gln) c.259G>C (p.Glu87Gln) | ClinVar dbSNP gnomAD v4 |
11 | g.2587594G= | CA1948233094 | KCNQ1 | c.796G= (p.Glu266=) c.613G= (p.Glu205=) c.1153G= (p.Glu385=) c.772G= (p.Glu258=) c.259G= (p.Glu87=) | |
11 | g.2587594G>T | CA379134688 | KCNQ1 | c.796G>T (p.Glu266Ter) c.613G>T (p.Glu205Ter) c.1153G>T (p.Glu385Ter) c.772G>T (p.Glu258Ter) c.259G>T (p.Glu87Ter) | |
11 | g.2587595A>C | CA379134689 | KCNQ1 | c.797A>C (p.Glu266Ala) c.614A>C (p.Glu205Ala) c.1154A>C (p.Glu385Ala) c.773A>C (p.Glu258Ala) c.260A>C (p.Glu87Ala) | |
11 | g.2587595A>G | CA379134690 | KCNQ1 | c.797A>G (p.Glu266Gly) c.614A>G (p.Glu205Gly) c.1154A>G (p.Glu385Gly) c.773A>G (p.Glu258Gly) c.260A>G (p.Glu87Gly) | |
11 | g.2587595A>T | CA379134691 | KCNQ1 | c.797A>T (p.Glu266Val) c.614A>T (p.Glu205Val) c.1154A>T (p.Glu385Val) c.773A>T (p.Glu258Val) c.260A>T (p.Glu87Val) | |
11 | g.2587596G>A | CA472039062 | KCNQ1 | c.798G>A (p.Glu266=) c.615G>A (p.Glu205=) c.1155G>A (p.Glu385=) c.774G>A (p.Glu258=) c.261G>A (p.Glu87=) | |
11 | g.2587596G>C | CA379134692 | KCNQ1 | c.798G>C (p.Glu266Asp) c.615G>C (p.Glu205Asp) c.1155G>C (p.Glu385Asp) c.774G>C (p.Glu258Asp) c.261G>C (p.Glu87Asp) | |
11 | g.2587596G>T | CA379134693 | KCNQ1 | c.798G>T (p.Glu266Asp) c.615G>T (p.Glu205Asp) c.1155G>T (p.Glu385Asp) c.774G>T (p.Glu258Asp) c.261G>T (p.Glu87Asp) | |
11 | g.2587597A>C | CA379134694 | KCNQ1 | c.799A>C (p.Asn267His) c.616A>C (p.Asn206His) c.1156A>C (p.Asn386His) c.775A>C (p.Asn259His) c.262A>C (p.Asn88His) | |
11 | g.2587597A>G | CA379134695 | KCNQ1 | c.799A>G (p.Asn267Asp) c.616A>G (p.Asn206Asp) c.1156A>G (p.Asn386Asp) c.775A>G (p.Asn259Asp) c.262A>G (p.Asn88Asp) | |
11 | g.2587597A>T | CA379134696 | KCNQ1 | c.799A>T (p.Asn267Tyr) c.616A>T (p.Asn206Tyr) c.1156A>T (p.Asn386Tyr) c.775A>T (p.Asn259Tyr) c.262A>T (p.Asn88Tyr) | |
11 | g.2587598A>C | CA379134697 | KCNQ1 | c.800A>C (p.Asn267Thr) c.617A>C (p.Asn206Thr) c.1157A>C (p.Asn386Thr) c.776A>C (p.Asn259Thr) c.263A>C (p.Asn88Thr) | |
11 | g.2587598A>G | CA379134698 | KCNQ1 | c.800A>G (p.Asn267Ser) c.617A>G (p.Asn206Ser) c.1157A>G (p.Asn386Ser) c.776A>G (p.Asn259Ser) c.263A>G (p.Asn88Ser) | |
11 | g.2587598A>T | CA379134699 | KCNQ1 | c.800A>T (p.Asn267Ile) c.617A>T (p.Asn206Ile) c.1157A>T (p.Asn386Ile) c.776A>T (p.Asn259Ile) c.263A>T (p.Asn88Ile) | |
11 | g.2587599C>A | CA027462 | KCNQ1 | c.801C>A (p.Asn267Lys) c.618C>A (p.Asn206Lys) c.1158C>A (p.Asn386Lys) c.777C>A (p.Asn259Lys) c.264C>A (p.Asn88Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587599C= | CA1948233102 | KCNQ1 | c.801C= (p.Asn267=) c.618C= (p.Asn206=) c.1158C= (p.Asn386=) c.777C= (p.Asn259=) c.264C= (p.Asn88=) | |
11 | g.2587599C>G | CA379134700 | KCNQ1 | c.801C>G (p.Asn267Lys) c.618C>G (p.Asn206Lys) c.1158C>G (p.Asn386Lys) c.777C>G (p.Asn259Lys) c.264C>G (p.Asn88Lys) | |
11 | g.2587599C>T | CA027476 | KCNQ1 | c.801C>T (p.Asn267=) c.618C>T (p.Asn206=) c.1158C>T (p.Asn386=) c.777C>T (p.Asn259=) c.264C>T (p.Asn88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587600C>A | CA379134701 | KCNQ1 | c.802C>A (p.Pro268Thr) c.619C>A (p.Pro207Thr) c.1159C>A (p.Pro387Thr) c.778C>A (p.Pro260Thr) c.265C>A (p.Pro89Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587600C= | CA1948233112 | KCNQ1 | c.802C= (p.Pro268=) c.619C= (p.Pro207=) c.1159C= (p.Pro387=) c.778C= (p.Pro260=) c.265C= (p.Pro89=) | |
11 | g.2587600C>G | CA379134702 | KCNQ1 | c.802C>G (p.Pro268Ala) c.619C>G (p.Pro207Ala) c.1159C>G (p.Pro387Ala) c.778C>G (p.Pro260Ala) c.265C>G (p.Pro89Ala) | |
11 | g.2587600C>T | CA379134703 | KCNQ1 | c.802C>T (p.Pro268Ser) c.619C>T (p.Pro207Ser) c.1159C>T (p.Pro387Ser) c.778C>T (p.Pro260Ser) c.265C>T (p.Pro89Ser) | ClinVar |
11 | g.2587601C>A | CA379134704 | KCNQ1 | c.803C>A (p.Pro268His) c.620C>A (p.Pro207His) c.1160C>A (p.Pro387His) c.779C>A (p.Pro260His) c.266C>A (p.Pro89His) | |
11 | g.2587601C= | CA1948233120 | KCNQ1 | c.803C= (p.Pro268=) c.620C= (p.Pro207=) c.1160C= (p.Pro387=) c.779C= (p.Pro260=) c.266C= (p.Pro89=) | |
11 | g.2587601C>G | CA379134705 | KCNQ1 | c.803C>G (p.Pro268Arg) c.620C>G (p.Pro207Arg) c.1160C>G (p.Pro387Arg) c.779C>G (p.Pro260Arg) c.266C>G (p.Pro89Arg) | |
11 | g.2587601C>T | CA379134706 | KCNQ1 | c.803C>T (p.Pro268Leu) c.620C>T (p.Pro207Leu) c.1160C>T (p.Pro387Leu) c.779C>T (p.Pro260Leu) c.266C>T (p.Pro89Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587602C>A | CA472039074 | KCNQ1 | c.804C>A (p.Pro268=) c.621C>A (p.Pro207=) c.1161C>A (p.Pro387=) c.780C>A (p.Pro260=) c.267C>A (p.Pro89=) | |
11 | g.2587602C= | CA1948233128 | KCNQ1 | c.804C= (p.Pro268=) c.621C= (p.Pro207=) c.1161C= (p.Pro387=) c.780C= (p.Pro260=) c.267C= (p.Pro89=) | |
11 | g.2587602C>G | CA472039075 | KCNQ1 | c.804C>G (p.Pro268=) c.621C>G (p.Pro207=) c.1161C>G (p.Pro387=) c.780C>G (p.Pro260=) c.267C>G (p.Pro89=) | |
11 | g.2587602C>T | CA027492 | KCNQ1 | c.804C>T (p.Pro268=) c.621C>T (p.Pro207=) c.1161C>T (p.Pro387=) c.780C>T (p.Pro260=) c.267C>T (p.Pro89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587603G>A | CA027506 | KCNQ1 | c.805G>A (p.Asp269Asn) c.622G>A (p.Asp208Asn) c.1162G>A (p.Asp388Asn) c.781G>A (p.Asp261Asn) c.268G>A (p.Asp90Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587603G>C | CA027518 | KCNQ1 | c.805G>C (p.Asp269His) c.622G>C (p.Asp208His) c.1162G>C (p.Asp388His) c.781G>C (p.Asp261His) c.268G>C (p.Asp90His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587603G= | CA1948233142 | KCNQ1 | c.805G= (p.Asp269=) c.622G= (p.Asp208=) c.1162G= (p.Asp388=) c.781G= (p.Asp261=) c.268G= (p.Asp90=) | |
11 | g.2587603G>T | CA379134707 | KCNQ1 | c.805G>T (p.Asp269Tyr) c.622G>T (p.Asp208Tyr) c.1162G>T (p.Asp388Tyr) c.781G>T (p.Asp261Tyr) c.268G>T (p.Asp90Tyr) | |
11 | g.2587604A= | CA1948233150 | KCNQ1 | c.806A= (p.Asp269=) c.623A= (p.Asp208=) c.1163A= (p.Asp388=) c.782A= (p.Asp261=) c.269A= (p.Asp90=) | |
11 | g.2587604A>C | CA379134710 | KCNQ1 | c.806A>C (p.Asp269Ala) c.623A>C (p.Asp208Ala) c.1163A>C (p.Asp388Ala) c.782A>C (p.Asp261Ala) c.269A>C (p.Asp90Ala) | |
11 | g.2587604A>G | CA379134709 | KCNQ1 | c.806A>G (p.Asp269Gly) c.623A>G (p.Asp208Gly) c.1163A>G (p.Asp388Gly) c.782A>G (p.Asp261Gly) c.269A>G (p.Asp90Gly) | gnomAD v4 |
11 | g.2587604A>T | CA379134708 | KCNQ1 | c.806A>T (p.Asp269Val) c.623A>T (p.Asp208Val) c.1163A>T (p.Asp388Val) c.782A>T (p.Asp261Val) c.269A>T (p.Asp90Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587605C>A | CA379134711 | KCNQ1 | c.807C>A (p.Asp269Glu) c.624C>A (p.Asp208Glu) c.1164C>A (p.Asp388Glu) c.783C>A (p.Asp261Glu) c.270C>A (p.Asp90Glu) | |
11 | g.2587605C= | CA1948233160 | KCNQ1 | c.807C= (p.Asp269=) c.624C= (p.Asp208=) c.1164C= (p.Asp388=) c.783C= (p.Asp261=) c.270C= (p.Asp90=) | |
11 | g.2587605C>G | CA379134712 | KCNQ1 | c.807C>G (p.Asp269Glu) c.624C>G (p.Asp208Glu) c.1164C>G (p.Asp388Glu) c.783C>G (p.Asp261Glu) c.270C>G (p.Asp90Glu) | |
11 | g.2587605C>T | CA216332699 | KCNQ1 | c.807C>T (p.Asp269=) c.624C>T (p.Asp208=) c.1164C>T (p.Asp388=) c.783C>T (p.Asp261=) c.270C>T (p.Asp90=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587609_2587611dup | CA16619311 | KCNQ1 | c.811_813dup (p.Ser271_Thr272insSer) c.628_630dup (p.Ser210_Thr211insSer) c.1168_1170dup (p.Ser390_Thr391insSer) c.787_789dup (p.Ser263_Thr264insSer) c.274_276dup (p.Ser92_Thr93insSer) | ClinVar dbSNP |
11 | g.2587606T>A | CA379134713 | KCNQ1 | c.808T>A (p.Ser270Thr) c.625T>A (p.Ser209Thr) c.1165T>A (p.Ser389Thr) c.784T>A (p.Ser262Thr) c.271T>A (p.Ser91Thr) | |
11 | g.2587606T>C | CA005423 | KCNQ1 | c.808T>C (p.Ser270Pro) c.625T>C (p.Ser209Pro) c.1165T>C (p.Ser389Pro) c.784T>C (p.Ser262Pro) c.271T>C (p.Ser91Pro) | ClinVar dbSNP |
11 | g.2587606T>G | CA379134714 | KCNQ1 | c.808T>G (p.Ser270Ala) c.625T>G (p.Ser209Ala) c.1165T>G (p.Ser389Ala) c.784T>G (p.Ser262Ala) c.271T>G (p.Ser91Ala) | ClinVar dbSNP |
11 | g.2587606T= | CA1948233175 | KCNQ1 | c.808T= (p.Ser270=) c.625T= (p.Ser209=) c.1165T= (p.Ser389=) c.784T= (p.Ser262=) c.271T= (p.Ser91=) | |
11 | g.2587606_2587607delinsGA | CA658797568 | KCNQ1 | c.808_809delinsGA (p.Ser270Asp) c.625_626delinsGA (p.Ser209Asp) c.1165_1166delinsGA (p.Ser389Asp) c.784_785delinsGA (p.Ser262Asp) c.271_272delinsGA (p.Ser91Asp) | ClinVar |
11 | g.2587607C>A | CA005431 | KCNQ1 | c.809C>A (p.Ser270Tyr) c.626C>A (p.Ser209Tyr) c.1166C>A (p.Ser389Tyr) c.785C>A (p.Ser262Tyr) c.272C>A (p.Ser91Tyr) | ClinVar dbSNP |
11 | g.2587607C= | CA1948233188 | KCNQ1 | c.809C= (p.Ser270=) c.626C= (p.Ser209=) c.1166C= (p.Ser389=) c.785C= (p.Ser262=) c.272C= (p.Ser91=) | |
11 | g.2587607C>G | CA379134715 | KCNQ1 | c.809C>G (p.Ser270Cys) c.626C>G (p.Ser209Cys) c.1166C>G (p.Ser389Cys) c.785C>G (p.Ser262Cys) c.272C>G (p.Ser91Cys) | |
11 | g.2587607C>T | CA379134716 | KCNQ1 | c.809C>T (p.Ser270Phe) c.626C>T (p.Ser209Phe) c.1166C>T (p.Ser389Phe) c.785C>T (p.Ser262Phe) c.272C>T (p.Ser91Phe) | ClinVar COSMIC COSMIC |
11 | g.2587608C>A | CA472039088 | KCNQ1 | c.810C>A (p.Ser270=) c.627C>A (p.Ser209=) c.1167C>A (p.Ser389=) c.786C>A (p.Ser262=) c.273C>A (p.Ser91=) | |
11 | g.2587608C= | CA1948233194 | KCNQ1 | c.810C= (p.Ser270=) c.627C= (p.Ser209=) c.1167C= (p.Ser389=) c.786C= (p.Ser262=) c.273C= (p.Ser91=) | |
11 | g.2587608C>G | CA472039090 | KCNQ1 | c.810C>G (p.Ser270=) c.627C>G (p.Ser209=) c.1167C>G (p.Ser389=) c.786C>G (p.Ser262=) c.273C>G (p.Ser91=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587608C>T | CA472039089 | KCNQ1 | c.810C>T (p.Ser270=) c.627C>T (p.Ser209=) c.1167C>T (p.Ser389=) c.786C>T (p.Ser262=) c.273C>T (p.Ser91=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587609T>A | CA379134717 | KCNQ1 | c.811T>A (p.Ser271Thr) c.628T>A (p.Ser210Thr) c.1168T>A (p.Ser390Thr) c.787T>A (p.Ser263Thr) c.274T>A (p.Ser92Thr) | |
11 | g.2587609T>C | CA379134718 | KCNQ1 | c.811T>C (p.Ser271Pro) c.628T>C (p.Ser210Pro) c.1168T>C (p.Ser390Pro) c.787T>C (p.Ser263Pro) c.274T>C (p.Ser92Pro) | |
11 | g.2587609T>G | CA379134719 | KCNQ1 | c.811T>G (p.Ser271Ala) c.628T>G (p.Ser210Ala) c.1168T>G (p.Ser390Ala) c.787T>G (p.Ser263Ala) c.274T>G (p.Ser92Ala) | |
11 | g.2587610C>A | CA379134722 | KCNQ1 | c.812C>A (p.Ser271Tyr) c.629C>A (p.Ser210Tyr) c.1169C>A (p.Ser390Tyr) c.788C>A (p.Ser263Tyr) c.275C>A (p.Ser92Tyr) | |
11 | g.2587610C= | CA1948233196 | KCNQ1 | c.812C= (p.Ser271=) c.629C= (p.Ser210=) c.1169C= (p.Ser390=) c.788C= (p.Ser263=) c.275C= (p.Ser92=) | |
11 | g.2587610C>G | CA379134720 | KCNQ1 | c.812C>G (p.Ser271Cys) c.629C>G (p.Ser210Cys) c.1169C>G (p.Ser390Cys) c.788C>G (p.Ser263Cys) c.275C>G (p.Ser92Cys) | dbSNP |
11 | g.2587610C>T | CA379134721 | KCNQ1 | c.812C>T (p.Ser271Phe) c.629C>T (p.Ser210Phe) c.1169C>T (p.Ser390Phe) c.788C>T (p.Ser263Phe) c.275C>T (p.Ser92Phe) | gnomAD v4 |
11 | g.2587612_2587614dup | CA658761337 | KCNQ1 | c.814_816dup (p.Thr272_Trp273insThr) c.631_633dup (p.Thr211_Trp212insThr) c.1171_1173dup (p.Thr391_Trp392insThr) c.790_792dup (p.Thr264_Trp265insThr) c.277_279dup (p.Thr93_Trp94insThr) | |
11 | g.2587611C>A | CA472039099 | KCNQ1 | c.813C>A (p.Ser271=) c.630C>A (p.Ser210=) c.1170C>A (p.Ser390=) c.789C>A (p.Ser263=) c.276C>A (p.Ser92=) | |
11 | g.2587611C>G | CA472039096 | KCNQ1 | c.813C>G (p.Ser271=) c.630C>G (p.Ser210=) c.1170C>G (p.Ser390=) c.789C>G (p.Ser263=) c.276C>G (p.Ser92=) | |
11 | g.2587611C>T | CA472039098 | KCNQ1 | c.813C>T (p.Ser271=) c.630C>T (p.Ser210=) c.1170C>T (p.Ser390=) c.789C>T (p.Ser263=) c.276C>T (p.Ser92=) | gnomAD v4 |
11 | g.2587612A= | CA1948233203 | KCNQ1 | c.814A= (p.Thr272=) c.631A= (p.Thr211=) c.1171A= (p.Thr391=) c.790A= (p.Thr264=) c.277A= (p.Thr93=) | |
11 | g.2587612A>C | CA379134723 | KCNQ1 | c.814A>C (p.Thr272Pro) c.631A>C (p.Thr211Pro) c.1171A>C (p.Thr391Pro) c.790A>C (p.Thr264Pro) c.277A>C (p.Thr93Pro) | ClinVar |
11 | g.2587612A>G | CA379134724 | KCNQ1 | c.814A>G (p.Thr272Ala) c.631A>G (p.Thr211Ala) c.1171A>G (p.Thr391Ala) c.790A>G (p.Thr264Ala) c.277A>G (p.Thr93Ala) | dbSNP gnomAD v2 |
11 | g.2587612A>T | CA379134725 | KCNQ1 | c.814A>T (p.Thr272Ser) c.631A>T (p.Thr211Ser) c.1171A>T (p.Thr391Ser) c.790A>T (p.Thr264Ser) c.277A>T (p.Thr93Ser) | |
11 | g.2587613C>A | CA379134726 | KCNQ1 | c.815C>A (p.Thr272Asn) c.632C>A (p.Thr211Asn) c.1172C>A (p.Thr391Asn) c.791C>A (p.Thr264Asn) c.278C>A (p.Thr93Asn) | |
11 | g.2587613C= | CA1948233208 | KCNQ1 | c.815C= (p.Thr272=) c.632C= (p.Thr211=) c.1172C= (p.Thr391=) c.791C= (p.Thr264=) c.278C= (p.Thr93=) | |
11 | g.2587613C>G | CA379134727 | KCNQ1 | c.815C>G (p.Thr272Ser) c.632C>G (p.Thr211Ser) c.1172C>G (p.Thr391Ser) c.791C>G (p.Thr264Ser) c.278C>G (p.Thr93Ser) | |
11 | g.2587613C>T | CA005438 | KCNQ1 | c.815C>T (p.Thr272Ile) c.632C>T (p.Thr211Ile) c.1172C>T (p.Thr391Ile) c.791C>T (p.Thr264Ile) c.278C>T (p.Thr93Ile) | ClinVar dbSNP |
11 | g.2587614C>A | CA472039102 | KCNQ1 | c.816C>A (p.Thr272=) c.633C>A (p.Thr211=) c.1173C>A (p.Thr391=) c.792C>A (p.Thr264=) c.279C>A (p.Thr93=) | |
11 | g.2587614C= | CA1948233219 | KCNQ1 | c.816C= (p.Thr272=) c.633C= (p.Thr211=) c.1173C= (p.Thr391=) c.792C= (p.Thr264=) c.279C= (p.Thr93=) | |
11 | g.2587614C>G | CA472039104 | KCNQ1 | c.816C>G (p.Thr272=) c.633C>G (p.Thr211=) c.1173C>G (p.Thr391=) c.792C>G (p.Thr264=) c.279C>G (p.Thr93=) | |
11 | g.2587614C>T | CA027533 | KCNQ1 | c.816C>T (p.Thr272=) c.633C>T (p.Thr211=) c.1173C>T (p.Thr391=) c.792C>T (p.Thr264=) c.279C>T (p.Thr93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587615T>A | CA379134728 | KCNQ1 | c.817T>A (p.Trp273Arg) c.634T>A (p.Trp212Arg) c.1174T>A (p.Trp392Arg) c.793T>A (p.Trp265Arg) c.280T>A (p.Trp94Arg) | |
11 | g.2587615T>C | CA005449 | KCNQ1 | c.817T>C (p.Trp273Arg) c.634T>C (p.Trp212Arg) c.1174T>C (p.Trp392Arg) c.793T>C (p.Trp265Arg) c.280T>C (p.Trp94Arg) | ClinVar dbSNP |
11 | g.2587615T>G | CA379134729 | KCNQ1 | c.817T>G (p.Trp273Gly) c.634T>G (p.Trp212Gly) c.1174T>G (p.Trp392Gly) c.793T>G (p.Trp265Gly) c.280T>G (p.Trp94Gly) | |
11 | g.2587615T= | CA1948233234 | KCNQ1 | c.817T= (p.Trp273=) c.634T= (p.Trp212=) c.1174T= (p.Trp392=) c.793T= (p.Trp265=) c.280T= (p.Trp94=) | |
11 | g.2587615_2587617dup | CA005455 | KCNQ1 | c.817_819dup (p.Trp273_Lys274insTrp) c.634_636dup (p.Trp212_Lys213insTrp) c.1174_1176dup (p.Trp392_Lys393insTrp) c.793_795dup (p.Trp265_Lys266insTrp) c.280_282dup (p.Trp94_Lys95insTrp) | ClinVar dbSNP gnomAD v4 |
11 | g.2587616G>A | CA16613564 | KCNQ1 | c.818G>A (p.Trp273Ter) c.635G>A (p.Trp212Ter) c.1175G>A (p.Trp392Ter) c.794G>A (p.Trp265Ter) c.281G>A (p.Trp94Ter) | ClinVar dbSNP |
11 | g.2587616G>C | CA379134731 | KCNQ1 | c.818G>C (p.Trp273Ser) c.635G>C (p.Trp212Ser) c.1175G>C (p.Trp392Ser) c.794G>C (p.Trp265Ser) c.281G>C (p.Trp94Ser) | |
11 | g.2587616G= | CA1948233241 | KCNQ1 | c.818G= (p.Trp273=) c.635G= (p.Trp212=) c.1175G= (p.Trp392=) c.794G= (p.Trp265=) c.281G= (p.Trp94=) | |
11 | g.2587616G>T | CA379134730 | KCNQ1 | c.818G>T (p.Trp273Leu) c.635G>T (p.Trp212Leu) c.1175G>T (p.Trp392Leu) c.794G>T (p.Trp265Leu) c.281G>T (p.Trp94Leu) | |
11 | g.2587617G>A | CA005462 | KCNQ1 | c.819G>A (p.Trp273Ter) c.636G>A (p.Trp212Ter) c.1176G>A (p.Trp392Ter) c.795G>A (p.Trp265Ter) c.282G>A (p.Trp94Ter) | ClinVar dbSNP |
11 | g.2587617G>C | CA379134732 | KCNQ1 | c.819G>C (p.Trp273Cys) c.636G>C (p.Trp212Cys) c.1176G>C (p.Trp392Cys) c.795G>C (p.Trp265Cys) c.282G>C (p.Trp94Cys) | |
11 | g.2587617G= | CA1948233244 | KCNQ1 | c.819G= (p.Trp273=) c.636G= (p.Trp212=) c.1176G= (p.Trp392=) c.795G= (p.Trp265=) c.282G= (p.Trp94=) | |
11 | g.2587617G>T | CA379134733 | KCNQ1 | c.819G>T (p.Trp273Cys) c.636G>T (p.Trp212Cys) c.1176G>T (p.Trp392Cys) c.795G>T (p.Trp265Cys) c.282G>T (p.Trp94Cys) | |
11 | g.2587619_2587621dup | CA658761338 | KCNQ1 | c.821_823dup (p.Lys274_Ile275insLys) c.638_640dup (p.Lys213_Ile214insLys) c.1178_1180dup (p.Lys393_Ile394insLys) c.797_799dup (p.Lys266_Ile267insLys) c.284_286dup (p.Lys95_Ile96insLys) | |
11 | g.2587618A= | CA1948233256 | KCNQ1 | c.820A= (p.Lys274=) c.637A= (p.Lys213=) c.1177A= (p.Lys393=) c.796A= (p.Lys266=) c.283A= (p.Lys95=) | |
11 | g.2587618A>C | CA379134734 | KCNQ1 | c.820A>C (p.Lys274Gln) c.637A>C (p.Lys213Gln) c.1177A>C (p.Lys393Gln) c.796A>C (p.Lys266Gln) c.283A>C (p.Lys95Gln) | |
11 | g.2587618A>G | CA379134735 | KCNQ1 | c.820A>G (p.Lys274Glu) c.637A>G (p.Lys213Glu) c.1177A>G (p.Lys393Glu) c.796A>G (p.Lys266Glu) c.283A>G (p.Lys95Glu) | ClinVar dbSNP gnomAD v4 |
11 | g.2587618A>T | CA379134736 | KCNQ1 | c.820A>T (p.Lys274Ter) c.637A>T (p.Lys213Ter) c.1177A>T (p.Lys393Ter) c.796A>T (p.Lys266Ter) c.283A>T (p.Lys95Ter) | |
11 | g.2587619A= | CA1948233268 | KCNQ1 | c.821A= (p.Lys274=) c.638A= (p.Lys213=) c.1178A= (p.Lys393=) c.797A= (p.Lys266=) c.284A= (p.Lys95=) | |
11 | g.2587619A>C | CA379134738 | KCNQ1 | c.821A>C (p.Lys274Thr) c.638A>C (p.Lys213Thr) c.1178A>C (p.Lys393Thr) c.797A>C (p.Lys266Thr) c.284A>C (p.Lys95Thr) | |
11 | g.2587619A>G | CA379134737 | KCNQ1 | c.821A>G (p.Lys274Arg) c.638A>G (p.Lys213Arg) c.1178A>G (p.Lys393Arg) c.797A>G (p.Lys266Arg) c.284A>G (p.Lys95Arg) | gnomAD v4 |
11 | g.2587619A>T | CA005470 | KCNQ1 | c.821A>T (p.Lys274Met) c.638A>T (p.Lys213Met) c.1178A>T (p.Lys393Met) c.797A>T (p.Lys266Met) c.284A>T (p.Lys95Met) | ClinVar dbSNP gnomAD v4 |
11 | g.2587620G>A | CA472039119 | KCNQ1 | c.822G>A (p.Lys274=) c.639G>A (p.Lys213=) c.1179G>A (p.Lys393=) c.798G>A (p.Lys266=) c.285G>A (p.Lys95=) | |
11 | g.2587620G>C | CA379134739 | KCNQ1 | c.822G>C (p.Lys274Asn) c.639G>C (p.Lys213Asn) c.1179G>C (p.Lys393Asn) c.798G>C (p.Lys266Asn) c.285G>C (p.Lys95Asn) | ClinVar |
11 | g.2587620G= | CA1948233280 | KCNQ1 | c.822G= (p.Lys274=) c.639G= (p.Lys213=) c.1179G= (p.Lys393=) c.798G= (p.Lys266=) c.285G= (p.Lys95=) | |
11 | g.2587620G>T | CA005477 | KCNQ1 | c.822G>T (p.Lys274Asn) c.639G>T (p.Lys213Asn) c.1179G>T (p.Lys393Asn) c.798G>T (p.Lys266Asn) c.285G>T (p.Lys95Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587621A= | CA1948233286 | KCNQ1 | c.823A= (p.Ile275=) c.640A= (p.Ile214=) c.1180A= (p.Ile394=) c.799A= (p.Ile267=) c.286A= (p.Ile96=) | |
11 | g.2587621A>C | CA379134740 | KCNQ1 | c.823A>C (p.Ile275Leu) c.640A>C (p.Ile214Leu) c.1180A>C (p.Ile394Leu) c.799A>C (p.Ile267Leu) c.286A>C (p.Ile96Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587621A>G | CA379134741 | KCNQ1 | c.823A>G (p.Ile275Val) c.640A>G (p.Ile214Val) c.1180A>G (p.Ile394Val) c.799A>G (p.Ile267Val) c.286A>G (p.Ile96Val) | |
11 | g.2587621A>T | CA379134742 | KCNQ1 | c.823A>T (p.Ile275Phe) c.640A>T (p.Ile214Phe) c.1180A>T (p.Ile394Phe) c.799A>T (p.Ile267Phe) c.286A>T (p.Ile96Phe) | |
11 | g.2587622T>A | CA379134745 | KCNQ1 | c.824T>A (p.Ile275Asn) c.641T>A (p.Ile214Asn) c.1181T>A (p.Ile394Asn) c.800T>A (p.Ile267Asn) c.287T>A (p.Ile96Asn) | |
11 | g.2587622T>C | CA379134743 | KCNQ1 | c.824T>C (p.Ile275Thr) c.641T>C (p.Ile214Thr) c.1181T>C (p.Ile394Thr) c.800T>C (p.Ile267Thr) c.287T>C (p.Ile96Thr) | ClinVar dbSNP |
11 | g.2587622T>G | CA379134744 | KCNQ1 | c.824T>G (p.Ile275Ser) c.641T>G (p.Ile214Ser) c.1181T>G (p.Ile394Ser) c.800T>G (p.Ile267Ser) c.287T>G (p.Ile96Ser) | |
11 | g.2587622T= | CA1948233291 | KCNQ1 | c.824T= (p.Ile275=) c.641T= (p.Ile214=) c.1181T= (p.Ile394=) c.800T= (p.Ile267=) c.287T= (p.Ile96=) | |
11 | g.2587623del | CA2499220873 | KCNQ1 | c.825del (p.Tyr276ThrfsTer24) c.642del (p.Tyr215ThrfsTer24) c.1182del (p.Tyr395ThrfsTer24) c.801del (p.Tyr268ThrfsTer24) c.288del (p.Tyr97ThrfsTer24) | ClinVar dbSNP |
11 | g.2587623C>A | CA472039124 | KCNQ1 | c.825C>A (p.Ile275=) c.642C>A (p.Ile214=) c.1182C>A (p.Ile394=) c.801C>A (p.Ile267=) c.288C>A (p.Ile96=) | |
11 | g.2587623C>G | CA379134746 | KCNQ1 | c.825C>G (p.Ile275Met) c.642C>G (p.Ile214Met) c.1182C>G (p.Ile394Met) c.801C>G (p.Ile267Met) c.288C>G (p.Ile96Met) | |
11 | g.2587623C>T | CA472039126 | KCNQ1 | c.825C>T (p.Ile275=) c.642C>T (p.Ile214=) c.1182C>T (p.Ile394=) c.801C>T (p.Ile267=) c.288C>T (p.Ile96=) | |
11 | g.2587624T>A | CA379134747 | KCNQ1 | c.826T>A (p.Tyr276Asn) c.643T>A (p.Tyr215Asn) c.1183T>A (p.Tyr395Asn) c.802T>A (p.Tyr268Asn) c.289T>A (p.Tyr97Asn) | |
11 | g.2587624T>C | CA379134748 | KCNQ1 | c.826T>C (p.Tyr276His) c.643T>C (p.Tyr215His) c.1183T>C (p.Tyr395His) c.802T>C (p.Tyr268His) c.289T>C (p.Tyr97His) | |
11 | g.2587624T>G | CA379134749 | KCNQ1 | c.826T>G (p.Tyr276Asp) c.643T>G (p.Tyr215Asp) c.1183T>G (p.Tyr395Asp) c.802T>G (p.Tyr268Asp) c.289T>G (p.Tyr97Asp) | |
11 | g.2587625A= | CA1948233296 | KCNQ1 | c.827A= (p.Tyr276=) c.644A= (p.Tyr215=) c.1184A= (p.Tyr395=) c.803A= (p.Tyr268=) c.290A= (p.Tyr97=) | |
11 | g.2587625A>C | CA379134750 | KCNQ1 | c.827A>C (p.Tyr276Ser) c.644A>C (p.Tyr215Ser) c.1184A>C (p.Tyr395Ser) c.803A>C (p.Tyr268Ser) c.290A>C (p.Tyr97Ser) | |
11 | g.2587625A>G | CA027563 | KCNQ1 | c.827A>G (p.Tyr276Cys) c.644A>G (p.Tyr215Cys) c.1184A>G (p.Tyr395Cys) c.803A>G (p.Tyr268Cys) c.290A>G (p.Tyr97Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587625A>T | CA379134751 | KCNQ1 | c.827A>T (p.Tyr276Phe) c.644A>T (p.Tyr215Phe) c.1184A>T (p.Tyr395Phe) c.803A>T (p.Tyr268Phe) c.290A>T (p.Tyr97Phe) | |
11 | g.2587626C>A | CA379134752 | KCNQ1 | c.828C>A (p.Tyr276Ter) c.645C>A (p.Tyr215Ter) c.1185C>A (p.Tyr395Ter) c.804C>A (p.Tyr268Ter) c.291C>A (p.Tyr97Ter) | |
11 | g.2587626C= | CA1948233299 | KCNQ1 | c.828C= (p.Tyr276=) c.645C= (p.Tyr215=) c.1185C= (p.Tyr395=) c.804C= (p.Tyr268=) c.291C= (p.Tyr97=) | |
11 | g.2587626C>G | CA379134753 | KCNQ1 | c.828C>G (p.Tyr276Ter) c.645C>G (p.Tyr215Ter) c.1185C>G (p.Tyr395Ter) c.804C>G (p.Tyr268Ter) c.291C>G (p.Tyr97Ter) | |
11 | g.2587626C>T | CA027576 | KCNQ1 | c.828C>T (p.Tyr276=) c.645C>T (p.Tyr215=) c.1185C>T (p.Tyr395=) c.804C>T (p.Tyr268=) c.291C>T (p.Tyr97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587627A>C | CA379134754 | KCNQ1 | c.829A>C (p.Ile277Leu) c.646A>C (p.Ile216Leu) c.1186A>C (p.Ile396Leu) c.805A>C (p.Ile269Leu) c.292A>C (p.Ile98Leu) | |
11 | g.2587627A>G | CA379134755 | KCNQ1 | c.829A>G (p.Ile277Val) c.646A>G (p.Ile216Val) c.1186A>G (p.Ile396Val) c.805A>G (p.Ile269Val) c.292A>G (p.Ile98Val) | |
11 | g.2587627A>T | CA379134756 | KCNQ1 | c.829A>T (p.Ile277Phe) c.646A>T (p.Ile216Phe) c.1186A>T (p.Ile396Phe) c.805A>T (p.Ile269Phe) c.292A>T (p.Ile98Phe) |