Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2445118dup | CA2611999830 | KCNQ1 | c.24-265dup (n.24-265dup) c.20dup (p.Pro8AlafsTer?) | gnomAD v4 |
11 | g.2445118del | CA658797570 | KCNQ1 | c.24-265del (n.24-265del) c.20del (p.Pro7ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
11 | g.2445117C>A | CA379115723 | KCNQ1 | c.24-266C>A (n.24-266C>A) c.19C>A (p.Pro7Thr) | gnomAD v3 gnomAD v4 |
11 | g.2445117C= | CA1948160749 | KCNQ1 | c.24-266C= (n.24-266C=) c.19C= (p.Pro7=) | |
11 | g.2445117C>G | CA379115724 | KCNQ1 | c.24-266C>G (n.24-266C>G) c.19C>G (p.Pro7Ala) | gnomAD v4 |
11 | g.2445117C>T | CA006651 | KCNQ1 | c.24-266C>T (n.24-266C>T) c.19C>T (p.Pro7Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445118C>A | CA379115726 | KCNQ1 | c.24-265C>A (n.24-265C>A) c.20C>A (p.Pro7Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445118C= | CA1948160755 | KCNQ1 | c.24-265C= (n.24-265C=) c.20C= (p.Pro7=) | |
11 | g.2445118C>G | CA379115728 | KCNQ1 | c.24-265C>G (n.24-265C>G) c.20C>G (p.Pro7Arg) | gnomAD v4 |
11 | g.2445118C>T | CA379115729 | KCNQ1 | c.24-265C>T (n.24-265C>T) c.20C>T (p.Pro7Leu) | gnomAD v3 gnomAD v4 |
11 | g.2445119del | CA2611999848 | KCNQ1 | c.24-264del (n.24-264del) c.21del (p.Arg9GlyfsTer?) | gnomAD v4 |
11 | g.2445119G>A | CA034469 | KCNQ1 | c.24-264G>A (n.24-264G>A) c.21G>A (p.Pro7=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445119G>C | CA472415609 | KCNQ1 | c.24-264G>C (n.24-264G>C) c.21G>C (p.Pro7=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445119G= | CA1948160759 | KCNQ1 | c.24-264G= (n.24-264G=) c.21G= (p.Pro7=) | |
11 | g.2445119G>T | CA472415610 | KCNQ1 | c.24-264G>T (n.24-264G>T) c.21G>T (p.Pro7=) | gnomAD v4 |
11 | g.2445120C>A | CA379115735 | KCNQ1 | c.24-263C>A (n.24-263C>A) c.22C>A (p.Pro8Thr) | gnomAD v4 |
11 | g.2445120C= | CA1948160762 | KCNQ1 | c.24-263C= (n.24-263C=) c.22C= (p.Pro8=) | |
11 | g.2445120C>G | CA379115733 | KCNQ1 | c.24-263C>G (n.24-263C>G) c.22C>G (p.Pro8Ala) | gnomAD v4 |
11 | g.2445120C>T | CA379115732 | KCNQ1 | c.24-263C>T (n.24-263C>T) c.22C>T (p.Pro8Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445122del | CA2611999850 | KCNQ1 | c.24-261del (n.24-261del) c.24del (p.Arg9GlyfsTer?) | gnomAD v4 |
11 | g.2445121C>A | CA379115736 | KCNQ1 | c.24-262C>A (n.24-262C>A) c.23C>A (p.Pro8His) | gnomAD v4 |
11 | g.2445121C>G | CA379115738 | KCNQ1 | c.24-262C>G (n.24-262C>G) c.23C>G (p.Pro8Arg) | |
11 | g.2445121C>T | CA379115740 | KCNQ1 | c.24-262C>T (n.24-262C>T) c.23C>T (p.Pro8Leu) | gnomAD v4 |
11 | g.2445122C>A | CA472415611 | KCNQ1 | c.24-261C>A (n.24-261C>A) c.24C>A (p.Pro8=) | gnomAD v4 |
11 | g.2445122C>G | CA472415612 | KCNQ1 | c.24-261C>G (n.24-261C>G) c.24C>G (p.Pro8=) | gnomAD v4 |
11 | g.2445122C>T | CA472415613 | KCNQ1 | c.24-261C>T (n.24-261C>T) c.24C>T (p.Pro8=) | gnomAD v4 |
11 | g.2445123A>C | CA472415614 | KCNQ1 | c.24-260A>C (n.24-260A>C) c.25A>C (p.Arg9=) | gnomAD v4 |
11 | g.2445123A>G | CA379115742 | KCNQ1 | c.24-260A>G (n.24-260A>G) c.25A>G (p.Arg9Gly) | gnomAD v4 |
11 | g.2445123A>T | CA379115743 | KCNQ1 | c.24-260A>T (n.24-260A>T) c.25A>T (p.Arg9Trp) | gnomAD v4 |
11 | g.2445124G>A | CA379115745 | KCNQ1 | c.24-259G>A (n.24-259G>A) c.26G>A (p.Arg9Lys) | dbSNP gnomAD v4 |
11 | g.2445124G>C | CA379115747 | KCNQ1 | c.24-259G>C (n.24-259G>C) c.26G>C (p.Arg9Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445124G= | CA1948160766 | KCNQ1 | c.24-259G= (n.24-259G=) c.26G= (p.Arg9=) | |
11 | g.2445124G>T | CA379115748 | KCNQ1 | c.24-259G>T (n.24-259G>T) c.26G>T (p.Arg9Met) | gnomAD v4 |
11 | g.2445126del | CA2611999867 | KCNQ1 | c.24-257del (n.24-257del) c.28del (p.Ala10ProfsTer?) | gnomAD v4 |
11 | g.2445125G>A | CA472415615 | KCNQ1 | c.24-258G>A (n.24-258G>A) c.27G>A (p.Arg9=) | gnomAD v4 |
11 | g.2445125G>C | CA379115749 | KCNQ1 | c.24-258G>C (n.24-258G>C) c.27G>C (p.Arg9Ser) | |
11 | g.2445125G>T | CA379115750 | KCNQ1 | c.24-258G>T (n.24-258G>T) c.27G>T (p.Arg9Ser) | gnomAD v4 |
11 | g.2445126G>A | CA379115752 | KCNQ1 | c.24-257G>A (n.24-257G>A) c.28G>A (p.Ala10Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445126G>C | CA379115753 | KCNQ1 | c.24-257G>C (n.24-257G>C) c.28G>C (p.Ala10Pro) | gnomAD v4 |
11 | g.2445126G= | CA1948160769 | KCNQ1 | c.24-257G= (n.24-257G=) c.28G= (p.Ala10=) | |
11 | g.2445126G>T | CA379115754 | KCNQ1 | c.24-257G>T (n.24-257G>T) c.28G>T (p.Ala10Ser) | gnomAD v4 |
11 | g.2445127C>A | CA10638245 | KCNQ1 | c.24-256C>A (n.24-256C>A) c.29C>A (p.Ala10Asp) | ClinVar dbSNP gnomAD v4 |
11 | g.2445127C= | CA1948160772 | KCNQ1 | c.24-256C= (n.24-256C=) c.29C= (p.Ala10=) | |
11 | g.2445127C>G | CA379115758 | KCNQ1 | c.24-256C>G (n.24-256C>G) c.29C>G (p.Ala10Gly) | gnomAD v4 |
11 | g.2445127C>T | CA379115756 | KCNQ1 | c.24-256C>T (n.24-256C>T) c.29C>T (p.Ala10Val) | gnomAD v4 |
11 | g.2445128C>A | CA472415618 | KCNQ1 | c.24-255C>A (n.24-255C>A) c.30C>A (p.Ala10=) | gnomAD v4 |
11 | g.2445128C= | CA1948160776 | KCNQ1 | c.24-255C= (n.24-255C=) c.30C= (p.Ala10=) | |
11 | g.2445128C>G | CA472415616 | KCNQ1 | c.24-255C>G (n.24-255C>G) c.30C>G (p.Ala10=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445128C>T | CA472415617 | KCNQ1 | c.24-255C>T (n.24-255C>T) c.30C>T (p.Ala10=) | gnomAD v4 |
11 | g.2445129G>A | CA16619303 | KCNQ1 | c.24-254G>A (n.24-254G>A) c.31G>A (p.Glu11Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445129G>C | CA379115762 | KCNQ1 | c.24-254G>C (n.24-254G>C) c.31G>C (p.Glu11Gln) | gnomAD v4 |
11 | g.2445129G= | CA1948160781 | KCNQ1 | c.24-254G= (n.24-254G=) c.31G= (p.Glu11=) | |
11 | g.2445129G>T | CA379115765 | KCNQ1 | c.24-254G>T (n.24-254G>T) c.31G>T (p.Glu11Ter) | gnomAD v4 |
11 | g.2445132_2445133del | CA2611999879 | KCNQ1 | c.24-251_24-250del (n.24-251_24-250del) c.34_35del (p.Arg12GlufsTer?) | gnomAD v4 |
11 | g.2445130A>C | CA379115766 | KCNQ1 | c.24-253A>C (n.24-253A>C) c.32A>C (p.Glu11Ala) | |
11 | g.2445130A>G | CA379115767 | KCNQ1 | c.24-253A>G (n.24-253A>G) c.32A>G (p.Glu11Gly) | ClinVar gnomAD v4 |
11 | g.2445130A>T | CA379115769 | KCNQ1 | c.24-253A>T (n.24-253A>T) c.32A>T (p.Glu11Val) | gnomAD v4 |
11 | g.2445131G>A | CA216292501 | KCNQ1 | c.24-252G>A (n.24-252G>A) c.33G>A (p.Glu11=) | dbSNP gnomAD v4 |
11 | g.2445131G>C | CA379115772 | KCNQ1 | c.24-252G>C (n.24-252G>C) c.33G>C (p.Glu11Asp) | |
11 | g.2445131G= | CA1948160784 | KCNQ1 | c.24-252G= (n.24-252G=) c.33G= (p.Glu11=) | |
11 | g.2445131G>T | CA379115774 | KCNQ1 | c.24-252G>T (n.24-252G>T) c.33G>T (p.Glu11Asp) | gnomAD v4 |
11 | g.2445132A>C | CA472415619 | KCNQ1 | c.24-251A>C (n.24-251A>C) c.34A>C (p.Arg12=) | gnomAD v4 |
11 | g.2445132A>G | CA379115777 | KCNQ1 | c.24-251A>G (n.24-251A>G) c.34A>G (p.Arg12Gly) | gnomAD v4 |
11 | g.2445132A>T | CA379115778 | KCNQ1 | c.24-251A>T (n.24-251A>T) c.34A>T (p.Arg12Trp) | gnomAD v4 |
11 | g.2445133G>A | CA379115785 | KCNQ1 | c.24-250G>A (n.24-250G>A) c.35G>A (p.Arg12Lys) | gnomAD v4 |
11 | g.2445133G>C | CA379115783 | KCNQ1 | c.24-250G>C (n.24-250G>C) c.35G>C (p.Arg12Thr) | gnomAD v4 |
11 | g.2445133G>T | CA379115782 | KCNQ1 | c.24-250G>T (n.24-250G>T) c.35G>T (p.Arg12Met) | gnomAD v4 |
11 | g.2445134G>A | CA472415620 | KCNQ1 | c.24-249G>A (n.24-249G>A) c.36G>A (p.Arg12=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445134G>C | CA379115788 | KCNQ1 | c.24-249G>C (n.24-249G>C) c.36G>C (p.Arg12Ser) | |
11 | g.2445134G>T | CA379115789 | KCNQ1 | c.24-249G>T (n.24-249G>T) c.36G>T (p.Arg12Ser) | gnomAD v4 |
11 | g.2445135A= | CA1948160792 | KCNQ1 | c.24-248A= (n.24-248A=) c.37A= (p.Lys13=) | |
11 | g.2445135A>C | CA379115793 | KCNQ1 | c.24-248A>C (n.24-248A>C) c.37A>C (p.Lys13Gln) | gnomAD v4 |
11 | g.2445135A>G | CA379115795 | KCNQ1 | c.24-248A>G (n.24-248A>G) c.37A>G (p.Lys13Glu) | gnomAD v4 |
11 | g.2445135A>T | CA006918 | KCNQ1 | c.24-248A>T (n.24-248A>T) c.37A>T (p.Lys13Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.2445136del | CA2611999886 | KCNQ1 | c.24-247del (n.24-247del) c.38del (p.Lys13SerfsTer?) | gnomAD v4 |
11 | g.2445136A= | CA1948160800 | KCNQ1 | c.24-247A= (n.24-247A=) c.38A= (p.Lys13=) | |
11 | g.2445136A>C | CA379115802 | KCNQ1 | c.24-247A>C (n.24-247A>C) c.38A>C (p.Lys13Thr) | gnomAD v4 |
11 | g.2445136A>G | CA16613505 | KCNQ1 | c.24-247A>G (n.24-247A>G) c.38A>G (p.Lys13Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445136A>T | CA379115804 | KCNQ1 | c.24-247A>T (n.24-247A>T) c.38A>T (p.Lys13Met) | gnomAD v4 |
11 | g.2445137G>A | CA472415621 | KCNQ1 | c.24-246G>A (n.24-246G>A) c.39G>A (p.Lys13=) | gnomAD v4 |
11 | g.2445137G>C | CA379115807 | KCNQ1 | c.24-246G>C (n.24-246G>C) c.39G>C (p.Lys13Asn) | |
11 | g.2445137G>T | CA379115813 | KCNQ1 | c.24-246G>T (n.24-246G>T) c.39G>T (p.Lys13Asn) | gnomAD v4 |
11 | g.2445138C>A | CA379115816 | KCNQ1 | c.24-245C>A (n.24-245C>A) c.40C>A (p.Arg14Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445138C= | CA1948160804 | KCNQ1 | c.24-245C= (n.24-245C=) c.40C= (p.Arg14=) | |
11 | g.2445138C>G | CA379115819 | KCNQ1 | c.24-245C>G (n.24-245C>G) c.40C>G (p.Arg14Gly) | gnomAD v4 |
11 | g.2445138C>T | CA007029 | KCNQ1 | c.24-245C>T (n.24-245C>T) c.40C>T (p.Arg14Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.2445139G>A | CA379115835 | KCNQ1 | c.24-244G>A (n.24-244G>A) c.41G>A (p.Arg14His) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445139G>C | CA379115839 | KCNQ1 | c.24-244G>C (n.24-244G>C) c.41G>C (p.Arg14Pro) | gnomAD v4 |
11 | g.2445139G= | CA1948160809 | KCNQ1 | c.24-244G= (n.24-244G=) c.41G= (p.Arg14=) | |
11 | g.2445139G>T | CA16622147 | KCNQ1 | c.24-244G>T (n.24-244G>T) c.41G>T (p.Arg14Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445140C>A | CA472415624 | KCNQ1 | c.24-243C>A (n.24-243C>A) c.42C>A (p.Arg14=) | gnomAD v4 |
11 | g.2445140C>G | CA472415622 | KCNQ1 | c.24-243C>G (n.24-243C>G) c.42C>G (p.Arg14=) | gnomAD v4 |
11 | g.2445140C>T | CA472415623 | KCNQ1 | c.24-243C>T (n.24-243C>T) c.42C>T (p.Arg14=) | gnomAD v4 |
11 | g.2445141T>A | CA379115844 | KCNQ1 | c.24-242T>A (n.24-242T>A) c.43T>A (p.Trp15Arg) | gnomAD v4 |
11 | g.2445141T>C | CA379115842 | KCNQ1 | c.24-242T>C (n.24-242T>C) c.43T>C (p.Trp15Arg) | gnomAD v4 |
11 | g.2445141T>G | CA379115846 | KCNQ1 | c.24-242T>G (n.24-242T>G) c.43T>G (p.Trp15Gly) | gnomAD v4 |
11 | g.2445142G>A | CA379115851 | KCNQ1 | c.24-241G>A (n.24-241G>A) c.44G>A (p.Trp15Ter) | gnomAD v4 |
11 | g.2445142G>C | CA379115853 | KCNQ1 | c.24-241G>C (n.24-241G>C) c.44G>C (p.Trp15Ser) | gnomAD v4 |
11 | g.2445142G>T | CA379115856 | KCNQ1 | c.24-241G>T (n.24-241G>T) c.44G>T (p.Trp15Leu) | gnomAD v4 |
11 | g.2445145dup | CA2611999897 | KCNQ1 | c.24-238dup (n.24-238dup) c.47dup (p.Trp17LeufsTer?) | gnomAD v4 |
11 | g.2445145del | CA2611999899 | KCNQ1 | c.24-238del (n.24-238del) c.47del (p.Gly16ValfsTer?) | gnomAD v4 |
11 | g.2445143G>A | CA379115858 | KCNQ1 | c.24-240G>A (n.24-240G>A) c.45G>A (p.Trp15Ter) | gnomAD v4 |
11 | g.2445143G>C | CA379115861 | KCNQ1 | c.24-240G>C (n.24-240G>C) c.45G>C (p.Trp15Cys) | gnomAD v4 |
11 | g.2445143G>T | CA379115869 | KCNQ1 | c.24-240G>T (n.24-240G>T) c.45G>T (p.Trp15Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.2445144G>A | CA379115881 | KCNQ1 | c.24-239G>A (n.24-239G>A) c.46G>A (p.Gly16Ser) | dbSNP gnomAD v4 |
11 | g.2445144G>C | CA379115875 | KCNQ1 | c.24-239G>C (n.24-239G>C) c.46G>C (p.Gly16Arg) | gnomAD v4 |
11 | g.2445144G= | CA1948160817 | KCNQ1 | c.24-239G= (n.24-239G=) c.46G= (p.Gly16=) | |
11 | g.2445144G>T | CA379115872 | KCNQ1 | c.24-239G>T (n.24-239G>T) c.46G>T (p.Gly16Cys) | gnomAD v4 |
11 | g.2445144_2445146delinsGGT | CA1948160815 | KCNQ1 | c.24-239_24-237delinsGGT (n.24-239_24-237delinsGGT) c.46_48delinsGGT (p.Gly16=) | |
11 | g.2445145G>A | CA379115884 | KCNQ1 | c.24-238G>A (n.24-238G>A) c.47G>A (p.Gly16Asp) | gnomAD v4 |
11 | g.2445145G>C | CA379115887 | KCNQ1 | c.24-238G>C (n.24-238G>C) c.47G>C (p.Gly16Ala) | |
11 | g.2445145G>T | CA379115889 | KCNQ1 | c.24-238G>T (n.24-238G>T) c.47G>T (p.Gly16Val) | gnomAD v4 |
11 | g.2445145_2445146del | CA597432422 | KCNQ1 | c.24-238_24-237del (n.24-238_24-237del) c.47_48del (p.Gly16ValfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445146T>A | CA472415625 | KCNQ1 | c.24-237T>A (n.24-237T>A) c.48T>A (p.Gly16=) | gnomAD v4 |
11 | g.2445146T>C | CA472415626 | KCNQ1 | c.24-237T>C (n.24-237T>C) c.48T>C (p.Gly16=) | gnomAD v4 |
11 | g.2445146T>G | CA472415627 | KCNQ1 | c.24-237T>G (n.24-237T>G) c.48T>G (p.Gly16=) | |
11 | g.2445147dup | CA2611999909 | KCNQ1 | c.24-236dup (n.24-236dup) c.49dup (p.Trp17LeufsTer?) | gnomAD v4 |
11 | g.2445147T>A | CA379115892 | KCNQ1 | c.24-236T>A (n.24-236T>A) c.49T>A (p.Trp17Arg) | gnomAD v4 |
11 | g.2445147T>C | CA379115894 | KCNQ1 | c.24-236T>C (n.24-236T>C) c.49T>C (p.Trp17Arg) | gnomAD v4 |
11 | g.2445147T>G | CA379115897 | KCNQ1 | c.24-236T>G (n.24-236T>G) c.49T>G (p.Trp17Gly) | gnomAD v4 |
11 | g.2445148G>A | CA379115901 | KCNQ1 | c.24-235G>A (n.24-235G>A) c.50G>A (p.Trp17Ter) | gnomAD v4 |
11 | g.2445148G>C | CA379115905 | KCNQ1 | c.24-235G>C (n.24-235G>C) c.50G>C (p.Trp17Ser) | gnomAD v4 |
11 | g.2445148G>T | CA379115903 | KCNQ1 | c.24-235G>T (n.24-235G>T) c.50G>T (p.Trp17Leu) | gnomAD v4 |
11 | g.2445151del | CA2611999912 | KCNQ1 | c.24-232del (n.24-232del) c.53del (p.Gly18AlafsTer?) | gnomAD v4 |
11 | g.2445149G>A | CA379115908 | KCNQ1 | c.24-234G>A (n.24-234G>A) c.51G>A (p.Trp17Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.2445149G>C | CA379115910 | KCNQ1 | c.24-234G>C (n.24-234G>C) c.51G>C (p.Trp17Cys) | gnomAD v4 |
11 | g.2445149G= | CA1948160822 | KCNQ1 | c.24-234G= (n.24-234G=) c.51G= (p.Trp17=) | |
11 | g.2445149G>T | CA379115918 | KCNQ1 | c.24-234G>T (n.24-234G>T) c.51G>T (p.Trp17Cys) | gnomAD v4 |
11 | g.2445150G>A | CA379115922 | KCNQ1 | c.24-233G>A (n.24-233G>A) c.52G>A (p.Gly18Ser) | gnomAD v4 |
11 | g.2445150G>C | CA379115924 | KCNQ1 | c.24-233G>C (n.24-233G>C) c.52G>C (p.Gly18Arg) | gnomAD v4 |
11 | g.2445150G= | CA1948160825 | KCNQ1 | c.24-233G= (n.24-233G=) c.52G= (p.Gly18=) | |
11 | g.2445150G>T | CA379115927 | KCNQ1 | c.24-233G>T (n.24-233G>T) c.52G>T (p.Gly18Cys) | dbSNP gnomAD v4 |
11 | g.2445151G>A | CA379115931 | KCNQ1 | c.24-232G>A (n.24-232G>A) c.53G>A (p.Gly18Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445151G>C | CA379115934 | KCNQ1 | c.24-232G>C (n.24-232G>C) c.53G>C (p.Gly18Ala) | gnomAD v4 |
11 | g.2445151G= | CA1948160828 | KCNQ1 | c.24-232G= (n.24-232G=) c.53G= (p.Gly18=) | |
11 | g.2445151G>T | CA379115936 | KCNQ1 | c.24-232G>T (n.24-232G>T) c.53G>T (p.Gly18Val) | gnomAD v4 |
11 | g.2445152C>A | CA472415630 | KCNQ1 | c.24-231C>A (n.24-231C>A) c.54C>A (p.Gly18=) | gnomAD v4 |
11 | g.2445152C>G | CA472415628 | KCNQ1 | c.24-231C>G (n.24-231C>G) c.54C>G (p.Gly18=) | gnomAD v4 |
11 | g.2445152C>T | CA472415629 | KCNQ1 | c.24-231C>T (n.24-231C>T) c.54C>T (p.Gly18=) | gnomAD v4 |
11 | g.2445153del | CA2574728025 | KCNQ1 | c.24-230del (n.24-230del) c.55del (p.Arg19AlafsTer?) | gnomAD v4 |
11 | g.2445153C>A | CA379115939 | KCNQ1 | c.24-230C>A (n.24-230C>A) c.55C>A (p.Arg19Ser) | gnomAD v4 |
11 | g.2445153C>G | CA379115941 | KCNQ1 | c.24-230C>G (n.24-230C>G) c.55C>G (p.Arg19Gly) | gnomAD v4 |
11 | g.2445153C>T | CA379115943 | KCNQ1 | c.24-230C>T (n.24-230C>T) c.55C>T (p.Arg19Cys) | gnomAD v4 |
11 | g.2445154del | CA2790193827 | KCNQ1 | c.24-229del (n.24-229del) c.56del (p.Arg19ProfsTer?) | |
11 | g.2445154G>A | CA379115947 | KCNQ1 | c.24-229G>A (n.24-229G>A) c.56G>A (p.Arg19His) | gnomAD v3 gnomAD v4 |
11 | g.2445154G>C | CA379115952 | KCNQ1 | c.24-229G>C (n.24-229G>C) c.56G>C (p.Arg19Pro) | gnomAD v4 |
11 | g.2445154G>T | CA379115949 | KCNQ1 | c.24-229G>T (n.24-229G>T) c.56G>T (p.Arg19Leu) | gnomAD v4 |
11 | g.2445155C>A | CA472415631 | KCNQ1 | c.24-228C>A (n.24-228C>A) c.57C>A (p.Arg19=) | dbSNP gnomAD v4 |
11 | g.2445155C= | CA1948160831 | KCNQ1 | c.24-228C= (n.24-228C=) c.57C= (p.Arg19=) | |
11 | g.2445155C>G | CA472415632 | KCNQ1 | c.24-228C>G (n.24-228C>G) c.57C>G (p.Arg19=) | gnomAD v4 |
11 | g.2445155C>T | CA472415633 | KCNQ1 | c.24-228C>T (n.24-228C>T) c.57C>T (p.Arg19=) | gnomAD v4 |
11 | g.2445156C>A | CA379115962 | KCNQ1 | c.24-227C>A (n.24-227C>A) c.58C>A (p.Leu20Met) | gnomAD v4 |
11 | g.2445156C>G | CA379115963 | KCNQ1 | c.24-227C>G (n.24-227C>G) c.58C>G (p.Leu20Val) | gnomAD v4 |
11 | g.2445156C>T | CA472415634 | KCNQ1 | c.24-227C>T (n.24-227C>T) c.58C>T (p.Leu20=) | dbSNP gnomAD v4 |
11 | g.2445157del | CA2611999918 | KCNQ1 | c.24-226del (n.24-226del) c.59del (p.Leu20ArgfsTer?) | gnomAD v4 |
11 | g.2445157T>A | CA379115966 | KCNQ1 | c.24-226T>A (n.24-226T>A) c.59T>A (p.Leu20Gln) | dbSNP gnomAD v4 |
11 | g.2445157T>C | CA379115969 | KCNQ1 | c.24-226T>C (n.24-226T>C) c.59T>C (p.Leu20Pro) | gnomAD v4 |
11 | g.2445157T>G | CA379115971 | KCNQ1 | c.24-226T>G (n.24-226T>G) c.59T>G (p.Leu20Arg) | gnomAD v4 |
11 | g.2445157T= | CA1948160833 | KCNQ1 | c.24-226T= (n.24-226T=) c.59T= (p.Leu20=) | |
11 | g.2445158G>A | CA472415635 | KCNQ1 | c.24-225G>A (n.24-225G>A) c.60G>A (p.Leu20=) | gnomAD v3 gnomAD v4 |
11 | g.2445158G>C | CA472415636 | KCNQ1 | c.24-225G>C (n.24-225G>C) c.60G>C (p.Leu20=) | gnomAD v4 |
11 | g.2445158G>T | CA472415637 | KCNQ1 | c.24-225G>T (n.24-225G>T) c.60G>T (p.Leu20=) | gnomAD v4 |
11 | g.2445160_2445161insCCGCC | CA2611999919 | KCNQ1 | c.24-223_24-222insCCGCC (n.24-223_24-222insCCGCC) c.62_63insCCGCC (p.Gly22ArgfsTer?) | gnomAD v4 |
11 | g.2445159C>A | CA379115973 | KCNQ1 | c.24-224C>A (n.24-224C>A) c.61C>A (p.Pro21Thr) | gnomAD v4 |
11 | g.2445159C= | CA1948160835 | KCNQ1 | c.24-224C= (n.24-224C=) c.61C= (p.Pro21=) | |
11 | g.2445159C>G | CA379115976 | KCNQ1 | c.24-224C>G (n.24-224C>G) c.61C>G (p.Pro21Ala) | dbSNP gnomAD v4 |
11 | g.2445159C>T | CA039189 | KCNQ1 | c.24-224C>T (n.24-224C>T) c.61C>T (p.Pro21Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2445160del | CA2611999928 | KCNQ1 | c.24-223del (n.24-223del) c.62del (p.Pro21GlnfsTer?) | gnomAD v4 |
11 | g.2445160C>A | CA379115982 | KCNQ1 | c.24-223C>A (n.24-223C>A) c.62C>A (p.Pro21Gln) | gnomAD v4 |
11 | g.2445160C= | CA1948160840 | KCNQ1 | c.24-223C= (n.24-223C=) c.62C= (p.Pro21=) | |
11 | g.2445160C>G | CA379115984 | KCNQ1 | c.24-223C>G (n.24-223C>G) c.62C>G (p.Pro21Arg) | gnomAD v4 |
11 | g.2445160C>T | CA379115987 | KCNQ1 | c.24-223C>T (n.24-223C>T) c.62C>T (p.Pro21Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445161A>C | CA472415638 | KCNQ1 | c.24-222A>C (n.24-222A>C) c.63A>C (p.Pro21=) | gnomAD v4 |
11 | g.2445161A>G | CA472415640 | KCNQ1 | c.24-222A>G (n.24-222A>G) c.63A>G (p.Pro21=) | gnomAD v4 |
11 | g.2445161A>T | CA472415639 | KCNQ1 | c.24-222A>T (n.24-222A>T) c.63A>T (p.Pro21=) | gnomAD v4 |
11 | g.2445161_2445168delinsAGGCGCCC | CA1948160842 | KCNQ1 | c.24-222_24-215delinsAGGCGCCC (n.24-222_24-215delinsAGGCGCCC) c.63_70delinsAGGCGCCC (p.Pro21=) | |
11 | g.2445162G>A | CA379115993 | KCNQ1 | c.24-221G>A (n.24-221G>A) c.64G>A (p.Gly22Ser) | gnomAD v4 |
11 | g.2445162G>C | CA007829 | KCNQ1 | c.24-221G>C (n.24-221G>C) c.64G>C (p.Gly22Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445162G= | CA1948160846 | KCNQ1 | c.24-221G= (n.24-221G=) c.64G= (p.Gly22=) | |
11 | g.2445162G>T | CA379115989 | KCNQ1 | c.24-221G>T (n.24-221G>T) c.64G>T (p.Gly22Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.2445163del | CA2611999929 | KCNQ1 | c.24-220del (n.24-220del) c.65del (p.Gly22AlafsTer?) | gnomAD v4 |
11 | g.2445166_2445172del | CA918805505 | KCNQ1 | c.24-217_24-211del (n.24-217_24-211del) c.68_74del (p.Ala23GlyfsTer?) | dbSNP |
11 | g.2445166_2445228del | CA2611999930 | KCNQ1 | c.24-217_24-155del (n.24-217_24-155del) c.68_130del (p.Ala23_Gly43del) | gnomAD v4 |
11 | g.2445163G>A | CA379115995 | KCNQ1 | c.24-220G>A (n.24-220G>A) c.65G>A (p.Gly22Asp) | gnomAD v4 |
11 | g.2445163G>C | CA379115997 | KCNQ1 | c.24-220G>C (n.24-220G>C) c.65G>C (p.Gly22Ala) | |
11 | g.2445163G= | CA1948160847 | KCNQ1 | c.24-220G= (n.24-220G=) c.65G= (p.Gly22=) | |
11 | g.2445163G>T | CA379115999 | KCNQ1 | c.24-220G>T (n.24-220G>T) c.65G>T (p.Gly22Val) | dbSNP gnomAD v4 |
11 | g.2445173_2445270del | CA2790193839 | KCNQ1 | c.24-210_24-113del (n.24-210_24-113del) c.75_172del (p.Gly26ProfsTer?) | |
11 | g.2445164C>A | CA472415641 | KCNQ1 | c.24-219C>A (n.24-219C>A) c.66C>A (p.Gly22=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445164C= | CA1948160848 | KCNQ1 | c.24-219C= (n.24-219C=) c.66C= (p.Gly22=) | |
11 | g.2445164C>G | CA472415642 | KCNQ1 | c.24-219C>G (n.24-219C>G) c.66C>G (p.Gly22=) | gnomAD v4 |
11 | g.2445164C>T | CA10638246 | KCNQ1 | c.24-219C>T (n.24-219C>T) c.66C>T (p.Gly22=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445165G>A | CA379116008 | KCNQ1 | c.24-218G>A (n.24-218G>A) c.67G>A (p.Ala23Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445165G>C | CA379116014 | KCNQ1 | c.24-218G>C (n.24-218G>C) c.67G>C (p.Ala23Pro) | gnomAD v4 |
11 | g.2445165G= | CA1948160849 | KCNQ1 | c.24-218G= (n.24-218G=) c.67G= (p.Ala23=) | |
11 | g.2445165G>T | CA379116017 | KCNQ1 | c.24-218G>T (n.24-218G>T) c.67G>T (p.Ala23Ser) | gnomAD v4 |
11 | g.2445165dup | CA2574728026 | KCNQ1 | c.24-218dup (n.24-218dup) c.67dup (p.Ala23GlyfsTer?) | |
11 | g.2445175_2445238del | CA2611999932 | KCNQ1 | c.24-208_24-145del (n.24-208_24-145del) c.77_140del (p.Gly26AlafsTer?) | gnomAD v4 |
11 | g.2445166C>A | CA379116021 | KCNQ1 | c.24-217C>A (n.24-217C>A) c.68C>A (p.Ala23Asp) | gnomAD v4 |
11 | g.2445166C>G | CA379116023 | KCNQ1 | c.24-217C>G (n.24-217C>G) c.68C>G (p.Ala23Gly) | gnomAD v4 |
11 | g.2445166C>T | CA379116026 | KCNQ1 | c.24-217C>T (n.24-217C>T) c.68C>T (p.Ala23Val) | ClinVar gnomAD v4 |
11 | g.2445168del | CA2611999934 | KCNQ1 | c.24-215del (n.24-215del) c.70del (p.Arg24GlyfsTer?) | gnomAD v4 |
11 | g.2445167C>A | CA472415644 | KCNQ1 | c.24-216C>A (n.24-216C>A) c.69C>A (p.Ala23=) | gnomAD v4 |
11 | g.2445167C>G | CA472415645 | KCNQ1 | c.24-216C>G (n.24-216C>G) c.69C>G (p.Ala23=) | gnomAD v4 |
11 | g.2445167C>T | CA472415646 | KCNQ1 | c.24-216C>T (n.24-216C>T) c.69C>T (p.Ala23=) | gnomAD v4 |
11 | g.2445167_2445170delinsCCGG | CA1948160850 | KCNQ1 | c.24-216_24-213delinsCCGG (n.24-216_24-213delinsCCGG) c.69_72delinsCCGG (p.Ala23=) | |
11 | g.2445168C>A | CA472415648 | KCNQ1 | c.24-215C>A (n.24-215C>A) c.70C>A (p.Arg24=) | gnomAD v4 |
11 | g.2445168C= | CA1948160851 | KCNQ1 | c.24-215C= (n.24-215C=) c.70C= (p.Arg24=) | |
11 | g.2445168C>G | CA379116029 | KCNQ1 | c.24-215C>G (n.24-215C>G) c.70C>G (p.Arg24Gly) | |
11 | g.2445168C>T | CA216292541 | KCNQ1 | c.24-215C>T (n.24-215C>T) c.70C>T (p.Arg24Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445171_2445173del | CA934455195 | KCNQ1 | c.24-212_24-210del (n.24-212_24-210del) c.73_75del (p.Arg25del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445169G>A | CA379116039 | KCNQ1 | c.24-214G>A (n.24-214G>A) c.71G>A (p.Arg24Gln) | gnomAD v4 |
11 | g.2445169G>C | CA379116037 | KCNQ1 | c.24-214G>C (n.24-214G>C) c.71G>C (p.Arg24Pro) | gnomAD v4 |
11 | g.2445169G>T | CA379116035 | KCNQ1 | c.24-214G>T (n.24-214G>T) c.71G>T (p.Arg24Leu) | gnomAD v4 |
11 | g.2445170del | CA2611999936 | KCNQ1 | c.24-213del (n.24-213del) c.72del (p.Arg25GlyfsTer?) | gnomAD v4 |
11 | g.2445170G>A | CA472415649 | KCNQ1 | c.24-213G>A (n.24-213G>A) c.72G>A (p.Arg24=) | gnomAD v4 |
11 | g.2445170G>C | CA472415650 | KCNQ1 | c.24-213G>C (n.24-213G>C) c.72G>C (p.Arg24=) | gnomAD v4 |
11 | g.2445170G>T | CA472415651 | KCNQ1 | c.24-213G>T (n.24-213G>T) c.72G>T (p.Arg24=) | gnomAD v4 |
11 | g.2445170_2445171delinsGC | CA1948160852 | KCNQ1 | c.24-213_24-212delinsGC (n.24-213_24-212delinsGC) c.72_73delinsGC (p.Arg24=) | |
11 | g.2445171del | CA597432437 | KCNQ1 | c.24-212del (n.24-212del) c.73del (p.Arg25GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445171C>A | CA472415652 | KCNQ1 | c.24-212C>A (n.24-212C>A) c.73C>A (p.Arg25=) | gnomAD v4 |
11 | g.2445171C>G | CA379116043 | KCNQ1 | c.24-212C>G (n.24-212C>G) c.73C>G (p.Arg25Gly) | gnomAD v4 |
11 | g.2445171C>T | CA379116045 | KCNQ1 | c.24-212C>T (n.24-212C>T) c.73C>T (p.Arg25Trp) | gnomAD v4 |
11 | g.2445171_2445172delinsCG | CA1948160853 | KCNQ1 | c.24-212_24-211delinsCG (n.24-212_24-211delinsCG) c.73_74delinsCG (p.Arg25=) | |
11 | g.2445172G>A | CA379116048 | KCNQ1 | c.24-211G>A (n.24-211G>A) c.74G>A (p.Arg25Gln) | gnomAD v4 |
11 | g.2445172G>C | CA379116049 | KCNQ1 | c.24-211G>C (n.24-211G>C) c.74G>C (p.Arg25Pro) | ClinVar dbSNP gnomAD v4 |
11 | g.2445172G= | CA1948160854 | KCNQ1 | c.24-211G= (n.24-211G=) c.74G= (p.Arg25=) | |
11 | g.2445172G>T | CA379116052 | KCNQ1 | c.24-211G>T (n.24-211G>T) c.74G>T (p.Arg25Leu) | gnomAD v4 |
11 | g.2445175del | CA597432438 | KCNQ1 | c.24-208del (n.24-208del) c.77del (p.Gly26AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445174_2445175del | CA2611999937 | KCNQ1 | c.24-209_24-208del (n.24-209_24-208del) c.76_77del (p.Gly26GlnfsTer?) | gnomAD v4 |
11 | g.2445173G>A | CA472415654 | KCNQ1 | c.24-210G>A (n.24-210G>A) c.75G>A (p.Arg25=) | gnomAD v4 |
11 | g.2445173G>C | CA472415655 | KCNQ1 | c.24-210G>C (n.24-210G>C) c.75G>C (p.Arg25=) | gnomAD v4 |
11 | g.2445173G>T | CA472415656 | KCNQ1 | c.24-210G>T (n.24-210G>T) c.75G>T (p.Arg25=) | gnomAD v4 |
11 | g.2445174G>A | CA379116056 | KCNQ1 | c.24-209G>A (n.24-209G>A) c.76G>A (p.Gly26Ser) | gnomAD v4 |
11 | g.2445174G>C | CA379116057 | KCNQ1 | c.24-209G>C (n.24-209G>C) c.76G>C (p.Gly26Arg) | gnomAD v4 |
11 | g.2445174G>T | CA379116059 | KCNQ1 | c.24-209G>T (n.24-209G>T) c.76G>T (p.Gly26Cys) | gnomAD v4 |
11 | g.2445175G>A | CA379116062 | KCNQ1 | c.24-208G>A (n.24-208G>A) c.77G>A (p.Gly26Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445175G>C | CA379116064 | KCNQ1 | c.24-208G>C (n.24-208G>C) c.77G>C (p.Gly26Ala) | gnomAD v4 |
11 | g.2445175G= | CA1948160855 | KCNQ1 | c.24-208G= (n.24-208G=) c.77G= (p.Gly26=) | |
11 | g.2445175G>T | CA379116065 | KCNQ1 | c.24-208G>T (n.24-208G>T) c.77G>T (p.Gly26Val) | gnomAD v4 |
11 | g.2445176C>A | CA472415659 | KCNQ1 | c.24-207C>A (n.24-207C>A) c.78C>A (p.Gly26=) | gnomAD v4 |
11 | g.2445176C>G | CA472415657 | KCNQ1 | c.24-207C>G (n.24-207C>G) c.78C>G (p.Gly26=) | gnomAD v4 |
11 | g.2445176C>T | CA472415658 | KCNQ1 | c.24-207C>T (n.24-207C>T) c.78C>T (p.Gly26=) | gnomAD v4 |
11 | g.2445177A>C | CA379116075 | KCNQ1 | c.24-206A>C (n.24-206A>C) c.79A>C (p.Ser27Arg) | gnomAD v4 |
11 | g.2445177A>G | CA379116077 | KCNQ1 | c.24-206A>G (n.24-206A>G) c.79A>G (p.Ser27Gly) | gnomAD v4 |
11 | g.2445177A>T | CA379116080 | KCNQ1 | c.24-206A>T (n.24-206A>T) c.79A>T (p.Ser27Cys) | gnomAD v4 |
11 | g.2445178G>A | CA379116088 | KCNQ1 | c.24-205G>A (n.24-205G>A) c.80G>A (p.Ser27Asn) | gnomAD v3 gnomAD v4 |
11 | g.2445178G>C | CA379116085 | KCNQ1 | c.24-205G>C (n.24-205G>C) c.80G>C (p.Ser27Thr) | |
11 | g.2445178G>T | CA379116087 | KCNQ1 | c.24-205G>T (n.24-205G>T) c.80G>T (p.Ser27Ile) | gnomAD v4 |
11 | g.2445179C>A | CA008347 | KCNQ1 | c.24-204C>A (n.24-204C>A) c.81C>A (p.Ser27Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.2445179C= | CA1948160856 | KCNQ1 | c.24-204C= (n.24-204C=) c.81C= (p.Ser27=) | |
11 | g.2445179C>G | CA379116090 | KCNQ1 | c.24-204C>G (n.24-204C>G) c.81C>G (p.Ser27Arg) | dbSNP gnomAD v4 |
11 | g.2445179C>T | CA472415663 | KCNQ1 | c.24-204C>T (n.24-204C>T) c.81C>T (p.Ser27=) | dbSNP gnomAD v4 |
11 | g.2445180G>A | CA379116095 | KCNQ1 | c.24-203G>A (n.24-203G>A) c.82G>A (p.Ala28Thr) | gnomAD v4 |
11 | g.2445180G>C | CA379116097 | KCNQ1 | c.24-203G>C (n.24-203G>C) c.82G>C (p.Ala28Pro) | gnomAD v4 |
11 | g.2445180G>T | CA379116100 | KCNQ1 | c.24-203G>T (n.24-203G>T) c.82G>T (p.Ala28Ser) | gnomAD v4 |
11 | g.2445181del | CA2611999938 | KCNQ1 | c.24-202del (n.24-202del) c.83del (p.Ala28GlyfsTer?) | gnomAD v4 |
11 | g.2445181C>A | CA379116102 | KCNQ1 | c.24-202C>A (n.24-202C>A) c.83C>A (p.Ala28Glu) | gnomAD v4 |
11 | g.2445181C= | CA1948160857 | KCNQ1 | c.24-202C= (n.24-202C=) c.83C= (p.Ala28=) | |
11 | g.2445181C>G | CA379116104 | KCNQ1 | c.24-202C>G (n.24-202C>G) c.83C>G (p.Ala28Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.2445181C>T | CA040928 | KCNQ1 | c.24-202C>T (n.24-202C>T) c.83C>T (p.Ala28Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.2445181_2445182insT | CA2611999939 | KCNQ1 | c.24-202_24-201insT (n.24-202_24-201insT) c.83_84insT (p.Leu30ProfsTer?) | gnomAD v4 |
11 | g.2445182G>A | CA472415664 | KCNQ1 | c.24-201G>A (n.24-201G>A) c.84G>A (p.Ala28=) | gnomAD v4 |
11 | g.2445182G>C | CA472415665 | KCNQ1 | c.24-201G>C (n.24-201G>C) c.84G>C (p.Ala28=) | |
11 | g.2445182G>T | CA472415666 | KCNQ1 | c.24-201G>T (n.24-201G>T) c.84G>T (p.Ala28=) | gnomAD v4 |
11 | g.2445184del | CA2611999940 | KCNQ1 | c.24-199del (n.24-199del) c.86del (p.Gly29AlafsTer?) | gnomAD v4 |
11 | g.2445183G>A | CA379116108 | KCNQ1 | c.24-200G>A (n.24-200G>A) c.85G>A (p.Gly29Ser) | ClinVar gnomAD v4 |
11 | g.2445183G>C | CA379116109 | KCNQ1 | c.24-200G>C (n.24-200G>C) c.85G>C (p.Gly29Arg) | gnomAD v4 |
11 | g.2445183G>T | CA379116110 | KCNQ1 | c.24-200G>T (n.24-200G>T) c.85G>T (p.Gly29Cys) | gnomAD v4 |
11 | g.2445184G>A | CA379116112 | KCNQ1 | c.24-199G>A (n.24-199G>A) c.86G>A (p.Gly29Asp) | gnomAD v4 |
11 | g.2445184G>C | CA379116113 | KCNQ1 | c.24-199G>C (n.24-199G>C) c.86G>C (p.Gly29Ala) | gnomAD v4 |
11 | g.2445184G>T | CA379116111 | KCNQ1 | c.24-199G>T (n.24-199G>T) c.86G>T (p.Gly29Val) | ClinVar gnomAD v4 |
11 | g.2445185C>A | CA472415667 | KCNQ1 | c.24-198C>A (n.24-198C>A) c.87C>A (p.Gly29=) | gnomAD v4 |
11 | g.2445185C= | CA1948160858 | KCNQ1 | c.24-198C= (n.24-198C=) c.87C= (p.Gly29=) | |
11 | g.2445185C>G | CA472415668 | KCNQ1 | c.24-198C>G (n.24-198C>G) c.87C>G (p.Gly29=) | gnomAD v4 |
11 | g.2445185C>T | CA472415669 | KCNQ1 | c.24-198C>T (n.24-198C>T) c.87C>T (p.Gly29=) | dbSNP gnomAD v4 |
11 | g.2445186C>A | CA379116114 | KCNQ1 | c.24-197C>A (n.24-197C>A) c.88C>A (p.Leu30Met) | gnomAD v4 |
11 | g.2445186C>G | CA379116115 | KCNQ1 | c.24-197C>G (n.24-197C>G) c.88C>G (p.Leu30Val) | |
11 | g.2445186C>T | CA472415670 | KCNQ1 | c.24-197C>T (n.24-197C>T) c.88C>T (p.Leu30=) | gnomAD v4 |
11 | g.2445187T>A | CA379116116 | KCNQ1 | c.24-196T>A (n.24-196T>A) c.89T>A (p.Leu30Gln) | gnomAD v4 |
11 | g.2445187T>C | CA379116119 | KCNQ1 | c.24-196T>C (n.24-196T>C) c.89T>C (p.Leu30Pro) | ClinVar dbSNP gnomAD v4 |
11 | g.2445187T>G | CA379116121 | KCNQ1 | c.24-196T>G (n.24-196T>G) c.89T>G (p.Leu30Arg) | |
11 | g.2445187T= | CA1948160859 | KCNQ1 | c.24-196T= (n.24-196T=) c.89T= (p.Leu30=) | |
11 | g.2445188G>A | CA472415674 | KCNQ1 | c.24-195G>A (n.24-195G>A) c.90G>A (p.Leu30=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445188G>C | CA472415672 | KCNQ1 | c.24-195G>C (n.24-195G>C) c.90G>C (p.Leu30=) | gnomAD v4 |
11 | g.2445188G= | CA1948160860 | KCNQ1 | c.24-195G= (n.24-195G=) c.90G= (p.Leu30=) | |
11 | g.2445188G>T | CA472415673 | KCNQ1 | c.24-195G>T (n.24-195G>T) c.90G>T (p.Leu30=) | gnomAD v4 |
11 | g.2445189del | CA2611999941 | KCNQ1 | c.24-194del (n.24-194del) c.91del (p.Ala31ProfsTer?) | gnomAD v4 |
11 | g.2445189G>A | CA379116129 | KCNQ1 | c.24-194G>A (n.24-194G>A) c.91G>A (p.Ala31Thr) | gnomAD v4 |
11 | g.2445189G>C | CA379116128 | KCNQ1 | c.24-194G>C (n.24-194G>C) c.91G>C (p.Ala31Pro) | gnomAD v4 |
11 | g.2445189G>T | CA379116125 | KCNQ1 | c.24-194G>T (n.24-194G>T) c.91G>T (p.Ala31Ser) | gnomAD v4 |
11 | g.2445190C>A | CA379116132 | KCNQ1 | c.24-193C>A (n.24-193C>A) c.92C>A (p.Ala31Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445190C= | CA1948160861 | KCNQ1 | c.24-193C= (n.24-193C=) c.92C= (p.Ala31=) | |
11 | g.2445190C>G | CA379116134 | KCNQ1 | c.24-193C>G (n.24-193C>G) c.92C>G (p.Ala31Gly) | gnomAD v4 |
11 | g.2445190C>T | CA379116136 | KCNQ1 | c.24-193C>T (n.24-193C>T) c.92C>T (p.Ala31Val) | gnomAD v4 |
11 | g.2445191dup | CA2695213178 | KCNQ1 | c.24-192dup (n.24-192dup) c.93dup (p.Lys32GlnfsTer?) | |
11 | g.2445191del | CA2611999942 | KCNQ1 | c.24-192del (n.24-192del) c.93del (p.Lys32ArgfsTer?) | gnomAD v4 |
11 | g.2445191C>A | CA472415675 | KCNQ1 | c.24-192C>A (n.24-192C>A) c.93C>A (p.Ala31=) | gnomAD v4 |
11 | g.2445191C= | CA1948160862 | KCNQ1 | c.24-192C= (n.24-192C=) c.93C= (p.Ala31=) | |
11 | g.2445191C>G | CA472415677 | KCNQ1 | c.24-192C>G (n.24-192C>G) c.93C>G (p.Ala31=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445191C>T | CA472415678 | KCNQ1 | c.24-192C>T (n.24-192C>T) c.93C>T (p.Ala31=) | gnomAD v4 |
11 | g.2445192A= | CA1948160863 | KCNQ1 | c.24-191A= (n.24-191A=) c.94A= (p.Lys32=) | |
11 | g.2445192A>C | CA379116139 | KCNQ1 | c.24-191A>C (n.24-191A>C) c.94A>C (p.Lys32Gln) | |
11 | g.2445192A>G | CA379116140 | KCNQ1 | c.24-191A>G (n.24-191A>G) c.94A>G (p.Lys32Glu) | gnomAD v4 |
11 | g.2445192A>T | CA379116142 | KCNQ1 | c.24-191A>T (n.24-191A>T) c.94A>T (p.Lys32Ter) | ClinVar dbSNP |
11 | g.2445193A>C | CA379116145 | KCNQ1 | c.24-190A>C (n.24-190A>C) c.95A>C (p.Lys32Thr) | |
11 | g.2445193A>G | CA379116149 | KCNQ1 | c.24-190A>G (n.24-190A>G) c.95A>G (p.Lys32Arg) | gnomAD v4 |
11 | g.2445193A>T | CA379116147 | KCNQ1 | c.24-190A>T (n.24-190A>T) c.95A>T (p.Lys32Met) | gnomAD v4 |
11 | g.2445194G>A | CA216292546 | KCNQ1 | c.24-189G>A (n.24-189G>A) c.96G>A (p.Lys32=) | dbSNP gnomAD v4 |
11 | g.2445194G>C | CA379116151 | KCNQ1 | c.24-189G>C (n.24-189G>C) c.96G>C (p.Lys32Asn) | gnomAD v4 |
11 | g.2445194G= | CA1948160864 | KCNQ1 | c.24-189G= (n.24-189G=) c.96G= (p.Lys32=) | |
11 | g.2445194G>T | CA379116153 | KCNQ1 | c.24-189G>T (n.24-189G>T) c.96G>T (p.Lys32Asn) | gnomAD v4 |
11 | g.2445195A>C | CA379116155 | KCNQ1 | c.24-188A>C (n.24-188A>C) c.97A>C (p.Lys33Gln) | |
11 | g.2445195A>G | CA379116157 | KCNQ1 | c.24-188A>G (n.24-188A>G) c.97A>G (p.Lys33Glu) | gnomAD v4 |
11 | g.2445195A>T | CA379116159 | KCNQ1 | c.24-188A>T (n.24-188A>T) c.97A>T (p.Lys33Ter) | gnomAD v4 |
11 | g.2445196A= | CA1948160865 | KCNQ1 | c.24-187A= (n.24-187A=) c.98A= (p.Lys33=) | |
11 | g.2445196A>C | CA379116161 | KCNQ1 | c.24-187A>C (n.24-187A>C) c.98A>C (p.Lys33Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445196A>G | CA379116162 | KCNQ1 | c.24-187A>G (n.24-187A>G) c.98A>G (p.Lys33Arg) | gnomAD v4 |
11 | g.2445196A>T | CA379116164 | KCNQ1 | c.24-187A>T (n.24-187A>T) c.98A>T (p.Lys33Met) | |
11 | g.2445197G>A | CA216292551 | KCNQ1 | c.24-186G>A (n.24-186G>A) c.99G>A (p.Lys33=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445197G>C | CA379116167 | KCNQ1 | c.24-186G>C (n.24-186G>C) c.99G>C (p.Lys33Asn) | gnomAD v4 |
11 | g.2445197G= | CA1948160866 | KCNQ1 | c.24-186G= (n.24-186G=) c.99G= (p.Lys33=) | |
11 | g.2445197G>T | CA379116169 | KCNQ1 | c.24-186G>T (n.24-186G>T) c.99G>T (p.Lys33Asn) | gnomAD v4 |
11 | g.2445198T>A | CA379116175 | KCNQ1 | c.24-185T>A (n.24-185T>A) c.100T>A (p.Cys34Ser) | gnomAD v4 |
11 | g.2445198T>C | CA379116173 | KCNQ1 | c.24-185T>C (n.24-185T>C) c.100T>C (p.Cys34Arg) | gnomAD v4 |
11 | g.2445198T>G | CA379116172 | KCNQ1 | c.24-185T>G (n.24-185T>G) c.100T>G (p.Cys34Gly) | |
11 | g.2445199G>A | CA379116178 | KCNQ1 | c.24-184G>A (n.24-184G>A) c.101G>A (p.Cys34Tyr) | gnomAD v4 |
11 | g.2445199G>C | CA379116181 | KCNQ1 | c.24-184G>C (n.24-184G>C) c.101G>C (p.Cys34Ser) | gnomAD v4 |
11 | g.2445199G>T | CA379116179 | KCNQ1 | c.24-184G>T (n.24-184G>T) c.101G>T (p.Cys34Phe) | gnomAD v4 |
11 | g.2445200C>A | CA216292555 | KCNQ1 | c.24-183C>A (n.24-183C>A) c.102C>A (p.Cys34Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445200C= | CA1948160867 | KCNQ1 | c.24-183C= (n.24-183C=) c.102C= (p.Cys34=) | |
11 | g.2445200C>G | CA379116185 | KCNQ1 | c.24-183C>G (n.24-183C>G) c.102C>G (p.Cys34Trp) | gnomAD v4 |
11 | g.2445200C>T | CA472415685 | KCNQ1 | c.24-183C>T (n.24-183C>T) c.102C>T (p.Cys34=) | gnomAD v4 |
11 | g.2445203del | CA2611999944 | KCNQ1 | c.24-180del (n.24-180del) c.105del (p.Phe36SerfsTer?) | gnomAD v4 |
11 | g.2445201C>A | CA379116187 | KCNQ1 | c.24-182C>A (n.24-182C>A) c.103C>A (p.Pro35Thr) | gnomAD v4 |
11 | g.2445201C>G | CA379116188 | KCNQ1 | c.24-182C>G (n.24-182C>G) c.103C>G (p.Pro35Ala) | gnomAD v4 |
11 | g.2445201C>T | CA379116190 | KCNQ1 | c.24-182C>T (n.24-182C>T) c.103C>T (p.Pro35Ser) | gnomAD v4 |
11 | g.2445202C>A | CA379116192 | KCNQ1 | c.24-181C>A (n.24-181C>A) c.104C>A (p.Pro35His) | gnomAD v4 |
11 | g.2445202C= | CA1948160868 | KCNQ1 | c.24-181C= (n.24-181C=) c.104C= (p.Pro35=) | |
11 | g.2445202C>G | CA379116194 | KCNQ1 | c.24-181C>G (n.24-181C>G) c.104C>G (p.Pro35Arg) | ClinVar gnomAD v4 |
11 | g.2445202C>T | CA379116196 | KCNQ1 | c.24-181C>T (n.24-181C>T) c.104C>T (p.Pro35Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445203C>A | CA16605885 | KCNQ1 | c.24-180C>A (n.24-180C>A) c.105C>A (p.Pro35=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445203C= | CA1948160869 | KCNQ1 | c.24-180C= (n.24-180C=) c.105C= (p.Pro35=) | |
11 | g.2445203C>G | CA472415686 | KCNQ1 | c.24-180C>G (n.24-180C>G) c.105C>G (p.Pro35=) | gnomAD v4 |
11 | g.2445203C>T | CA472415687 | KCNQ1 | c.24-180C>T (n.24-180C>T) c.105C>T (p.Pro35=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445204T>A | CA379116198 | KCNQ1 | c.24-179T>A (n.24-179T>A) c.106T>A (p.Phe36Ile) | gnomAD v4 |
11 | g.2445204T>C | CA379116199 | KCNQ1 | c.24-179T>C (n.24-179T>C) c.106T>C (p.Phe36Leu) | gnomAD v4 |
11 | g.2445204T>G | CA379116200 | KCNQ1 | c.24-179T>G (n.24-179T>G) c.106T>G (p.Phe36Val) | |
11 | g.2445205dup | CA2580082595 | KCNQ1 | c.24-178dup (n.24-178dup) c.107dup (p.Ser37LeufsTer?) | ClinVar |
11 | g.2445205del | CA2611999945 | KCNQ1 | c.24-178del (n.24-178del) c.107del (p.Phe36SerfsTer?) | gnomAD v4 |
11 | g.2445205T>A | CA379116201 | KCNQ1 | c.24-178T>A (n.24-178T>A) c.107T>A (p.Phe36Tyr) | |
11 | g.2445205T>C | CA379116202 | KCNQ1 | c.24-178T>C (n.24-178T>C) c.107T>C (p.Phe36Ser) | gnomAD v4 |
11 | g.2445205T>G | CA379116203 | KCNQ1 | c.24-178T>G (n.24-178T>G) c.107T>G (p.Phe36Cys) | |
11 | g.2445206C>A | CA379116205 | KCNQ1 | c.24-177C>A (n.24-177C>A) c.108C>A (p.Phe36Leu) | gnomAD v4 |
11 | g.2445206C= | CA1948160870 | KCNQ1 | c.24-177C= (n.24-177C=) c.108C= (p.Phe36=) | |
11 | g.2445206C>G | CA379116204 | KCNQ1 | c.24-177C>G (n.24-177C>G) c.108C>G (p.Phe36Leu) | gnomAD v4 |
11 | g.2445206C>T | CA472415693 | KCNQ1 | c.24-177C>T (n.24-177C>T) c.108C>T (p.Phe36=) | dbSNP gnomAD v4 |
11 | g.2445207T>A | CA379116206 | KCNQ1 | c.24-176T>A (n.24-176T>A) c.109T>A (p.Ser37Thr) | gnomAD v4 |
11 | g.2445207T>C | CA379116208 | KCNQ1 | c.24-176T>C (n.24-176T>C) c.109T>C (p.Ser37Pro) | gnomAD v4 |
11 | g.2445207T>G | CA379116210 | KCNQ1 | c.24-176T>G (n.24-176T>G) c.109T>G (p.Ser37Ala) | |
11 | g.2445208C>A | CA379116212 | KCNQ1 | c.24-175C>A (n.24-175C>A) c.110C>A (p.Ser37Ter) | gnomAD v4 |
11 | g.2445208C>G | CA379116215 | KCNQ1 | c.24-175C>G (n.24-175C>G) c.110C>G (p.Ser37Trp) | |
11 | g.2445208C>T | CA379116216 | KCNQ1 | c.24-175C>T (n.24-175C>T) c.110C>T (p.Ser37Leu) | gnomAD v4 |
11 | g.2445209G>A | CA472415694 | KCNQ1 | c.24-174G>A (n.24-174G>A) c.111G>A (p.Ser37=) | gnomAD v4 |
11 | g.2445209G>C | CA027109 | KCNQ1 | c.24-174G>C (n.24-174G>C) c.111G>C (p.Ser37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2445209G= | CA1948160871 | KCNQ1 | c.24-174G= (n.24-174G=) c.111G= (p.Ser37=) | |
11 | g.2445209G>T | CA472415695 | KCNQ1 | c.24-174G>T (n.24-174G>T) c.111G>T (p.Ser37=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445210C>A | CA379116220 | KCNQ1 | c.24-173C>A (n.24-173C>A) c.112C>A (p.Leu38Met) | gnomAD v4 |
11 | g.2445210C= | CA1948160872 | KCNQ1 | c.24-173C= (n.24-173C=) c.112C= (p.Leu38=) | |
11 | g.2445210C>G | CA379116221 | KCNQ1 | c.24-173C>G (n.24-173C>G) c.112C>G (p.Leu38Val) | |
11 | g.2445210C>T | CA472415697 | KCNQ1 | c.24-173C>T (n.24-173C>T) c.112C>T (p.Leu38=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2445210_2445211del | CA2790193872 | KCNQ1 | c.24-173_24-172del (n.24-173_24-172del) c.112_113del (p.Leu38GlyfsTer?) | |
11 | g.2445211T>A | CA379116223 | KCNQ1 | c.24-172T>A (n.24-172T>A) c.113T>A (p.Leu38Gln) | gnomAD v4 |
11 | g.2445211T>C | CA379116225 | KCNQ1 | c.24-172T>C (n.24-172T>C) c.113T>C (p.Leu38Pro) | gnomAD v4 |
11 | g.2445211T>G | CA379116227 | KCNQ1 | c.24-172T>G (n.24-172T>G) c.113T>G (p.Leu38Arg) | gnomAD v4 |
11 | g.2445212G>A | CA472415698 | KCNQ1 | c.24-171G>A (n.24-171G>A) c.114G>A (p.Leu38=) | ClinVar dbSNP gnomAD v4 |
11 | g.2445212G>C | CA472415699 | KCNQ1 | c.24-171G>C (n.24-171G>C) c.114G>C (p.Leu38=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2445212G= | CA1948160873 | KCNQ1 | c.24-171G= (n.24-171G=) c.114G= (p.Leu38=) | |
11 | g.2445212G>T | CA472415700 | KCNQ1 | c.24-171G>T (n.24-171G>T) c.114G>T (p.Leu38=) | gnomAD v4 |
11 | g.2445213del | CA2611999946 | KCNQ1 | c.24-170del (n.24-170del) c.115del (p.Glu39SerfsTer?) | gnomAD v4 |
11 | g.2445213G>A | CA379116231 | KCNQ1 | c.24-170G>A (n.24-170G>A) c.115G>A (p.Glu39Lys) | gnomAD v4 |
11 | g.2445213G>C | CA379116233 | KCNQ1 | c.24-170G>C (n.24-170G>C) c.115G>C (p.Glu39Gln) | gnomAD v4 |
11 | g.2445213G= | CA1948160874 | KCNQ1 | c.24-170G= (n.24-170G=) c.115G= (p.Glu39=) | |
11 | g.2445213G>T | CA379116229 | KCNQ1 | c.24-170G>T (n.24-170G>T) c.115G>T (p.Glu39Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.2445214A>C | CA379116235 | KCNQ1 | c.24-169A>C (n.24-169A>C) c.116A>C (p.Glu39Ala) | |
11 | g.2445214A>G | CA379116237 | KCNQ1 | c.24-169A>G (n.24-169A>G) c.116A>G (p.Glu39Gly) | gnomAD v4 |
11 | g.2445214A>T | CA379116238 | KCNQ1 | c.24-169A>T (n.24-169A>T) c.116A>T (p.Glu39Val) | |
11 | g.2445215G>A | CA216292562 | KCNQ1 | c.24-168G>A (n.24-168G>A) c.117G>A (p.Glu39=) | dbSNP gnomAD v4 |
11 | g.2445215G>C | CA379116242 | KCNQ1 | c.24-168G>C (n.24-168G>C) c.117G>C (p.Glu39Asp) | |
11 | g.2445215G= | CA1948160875 | KCNQ1 | c.24-168G= (n.24-168G=) c.117G= (p.Glu39=) | |
11 | g.2445215G>T | CA379116243 | KCNQ1 | c.24-168G>T (n.24-168G>T) c.117G>T (p.Glu39Asp) | gnomAD v4 |
11 | g.2445216C>A | CA379116248 | KCNQ1 | c.24-167C>A (n.24-167C>A) c.118C>A (p.Leu40Met) | gnomAD v4 |
11 | g.2445216C>G | CA379116247 | KCNQ1 | c.24-167C>G (n.24-167C>G) c.118C>G (p.Leu40Val) | gnomAD v4 |
11 | g.2445216C>T | CA472415704 | KCNQ1 | c.24-167C>T (n.24-167C>T) c.118C>T (p.Leu40=) | gnomAD v4 |
11 | g.2445217T>A | CA379116251 | KCNQ1 | c.24-166T>A (n.24-166T>A) c.119T>A (p.Leu40Gln) | |
11 | g.2445217T>C | CA379116253 | KCNQ1 | c.24-166T>C (n.24-166T>C) c.119T>C (p.Leu40Pro) | gnomAD v4 |
11 | g.2445217T>G | CA379116254 | KCNQ1 | c.24-166T>G (n.24-166T>G) c.119T>G (p.Leu40Arg) | gnomAD v4 |
11 | g.2445217_2445222del | CA2574728027 | KCNQ1 | c.24-166_24-161del (n.24-166_24-161del) c.119_124del (p.Leu40_Glu42delinsGln) |