17 | g.70175977_70175983delinsGCTCTTA | CA2272996753 | KCNJ2 | c.938_944delinsGCTCTTA (p.Ser313=)
| |
17 | g.70175978_70175983del | CA1139665862 | KCNJ2 | c.939_944del (p.Ser314_Tyr315del)
| ClinVar dbSNP |
17 | g.70175979_70175984del | CA2695226998 | KCNJ2 | c.940_945del (p.Ser314_Tyr315del)
| |
17 | g.70175983A>C | CA400862779 | KCNJ2 | c.944A>C (p.Tyr315Ser)
| |
17 | g.70175983A>G | CA400862781 | KCNJ2 | c.944A>G (p.Tyr315Cys)
| |
17 | g.70175983A>T | CA400862777 | KCNJ2 | c.944A>T (p.Tyr315Phe)
| |
17 | g.70175984T>A | CA400862783 | KCNJ2 | c.945T>A (p.Tyr315Ter)
| |
17 | g.70175984T>C | CA501700879 | KCNJ2 | c.945T>C (p.Tyr315=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175984T>G | CA400862786 | KCNJ2 | c.945T>G (p.Tyr315Ter)
| |
17 | g.70175984T= | CA2272996756 | KCNJ2 | c.945T= (p.Tyr315=)
| |
17 | g.70175985C>A | CA400862788 | KCNJ2 | c.946C>A (p.Leu316Ile)
| |
17 | g.70175985C>G | CA400862790 | KCNJ2 | c.946C>G (p.Leu316Val)
| |
17 | g.70175985C>T | CA501700880 | KCNJ2 | c.946C>T (p.Leu316=)
| |
17 | g.70175986T>A | CA400862792 | KCNJ2 | c.947T>A (p.Leu316Gln)
| |
17 | g.70175986T>C | CA400862793 | KCNJ2 | c.947T>C (p.Leu316Pro)
| |
17 | g.70175986T>G | CA400862795 | KCNJ2 | c.947T>G (p.Leu316Arg)
| |
17 | g.70175987A= | CA2272996757 | KCNJ2 | c.948A= (p.Leu316=)
| |
17 | g.70175987A>C | CA501700881 | KCNJ2 | c.948A>C (p.Leu316=)
| |
17 | g.70175987A>G | CA8738779 | KCNJ2 | c.948A>G (p.Leu316=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175987A>T | CA501700883 | KCNJ2 | c.948A>T (p.Leu316=)
| |
17 | g.70175988G>A | CA8738780 | KCNJ2 | c.949G>A (p.Ala317Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175988G>C | CA400862799 | KCNJ2 | c.949G>C (p.Ala317Pro)
| |
17 | g.70175988G= | CA2272996758 | KCNJ2 | c.949G= (p.Ala317=)
| |
17 | g.70175988G>T | CA400862800 | KCNJ2 | c.949G>T (p.Ala317Ser)
| |
17 | g.70175989C>A | CA400862803 | KCNJ2 | c.950C>A (p.Ala317Glu)
| |
17 | g.70175989C>G | CA400862804 | KCNJ2 | c.950C>G (p.Ala317Gly)
| |
17 | g.70175989C>T | CA400862806 | KCNJ2 | c.950C>T (p.Ala317Val)
| gnomAD v4 |
17 | g.70175990A>C | CA501700884 | KCNJ2 | c.951A>C (p.Ala317=)
| |
17 | g.70175990A>G | CA501700885 | KCNJ2 | c.951A>G (p.Ala317=)
| |
17 | g.70175990A>T | CA501700887 | KCNJ2 | c.951A>T (p.Ala317=)
| |
17 | g.70175991A= | CA2272996759 | KCNJ2 | c.952A= (p.Asn318=)
| |
17 | g.70175991A>C | CA400862812 | KCNJ2 | c.952A>C (p.Asn318His)
| |
17 | g.70175991A>G | CA400862808 | KCNJ2 | c.952A>G (p.Asn318Asp)
| |
17 | g.70175991A>T | CA400862809 | KCNJ2 | c.952A>T (p.Asn318Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175992A= | CA2272996760 | KCNJ2 | c.953A= (p.Asn318=)
| |
17 | g.70175992A>C | CA400862814 | KCNJ2 | c.953A>C (p.Asn318Thr)
| |
17 | g.70175992A>G | CA346055 | KCNJ2 | c.953A>G (p.Asn318Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175992A>T | CA400862815 | KCNJ2 | c.953A>T (p.Asn318Ile)
| |
17 | g.70175993T>A | CA400862817 | KCNJ2 | c.954T>A (p.Asn318Lys)
| |
17 | g.70175993T>C | CA501700889 | KCNJ2 | c.954T>C (p.Asn318=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175993T>G | CA400862819 | KCNJ2 | c.954T>G (p.Asn318Lys)
| ClinVar dbSNP |
17 | g.70175993T= | CA2272996761 | KCNJ2 | c.954T= (p.Asn318=)
| |
17 | g.70175994G>A | CA400862822 | KCNJ2 | c.955G>A (p.Glu319Lys)
| gnomAD v4 |
17 | g.70175994G>C | CA400862824 | KCNJ2 | c.955G>C (p.Glu319Gln)
| dbSNP COSMIC |
17 | g.70175994G= | CA2272996762 | KCNJ2 | c.955G= (p.Glu319=)
| |
17 | g.70175994G>T | CA400862825 | KCNJ2 | c.955G>T (p.Glu319Ter)
| |
17 | g.70175995A>C | CA400862826 | KCNJ2 | c.956A>C (p.Glu319Ala)
| |
17 | g.70175995A>G | CA400862828 | KCNJ2 | c.956A>G (p.Glu319Gly)
| |
17 | g.70175995A>T | CA400862829 | KCNJ2 | c.956A>T (p.Glu319Val)
| |
17 | g.70175996A>C | CA400862830 | KCNJ2 | c.957A>C (p.Glu319Asp)
| |
17 | g.70175996A>G | CA501700892 | KCNJ2 | c.957A>G (p.Glu319=)
| |
17 | g.70175996A>T | CA400862831 | KCNJ2 | c.957A>T (p.Glu319Asp)
| |
17 | g.70175997A>C | CA400862832 | KCNJ2 | c.958A>C (p.Ile320Leu)
| |
17 | g.70175997A>G | CA400862834 | KCNJ2 | c.958A>G (p.Ile320Val)
| |
17 | g.70175997A>T | CA400862833 | KCNJ2 | c.958A>T (p.Ile320Phe)
| |
17 | g.70175998T>A | CA400862835 | KCNJ2 | c.959T>A (p.Ile320Asn)
| |
17 | g.70175998T>C | CA400862836 | KCNJ2 | c.959T>C (p.Ile320Thr)
| |
17 | g.70175998T>G | CA400862838 | KCNJ2 | c.959T>G (p.Ile320Ser)
| |
17 | g.70175999C>A | CA501700893 | KCNJ2 | c.960C>A (p.Ile320=)
| |
17 | g.70175999C>G | CA400862839 | KCNJ2 | c.960C>G (p.Ile320Met)
| |
17 | g.70175999C>T | CA501700895 | KCNJ2 | c.960C>T (p.Ile320=)
| |
17 | g.70176000C>A | CA400862842 | KCNJ2 | c.961C>A (p.Leu321Met)
| COSMIC |
17 | g.70176000C= | CA2272996763 | KCNJ2 | c.961C= (p.Leu321=)
| |
17 | g.70176000C>G | CA400862844 | KCNJ2 | c.961C>G (p.Leu321Val)
| dbSNP |
17 | g.70176000C>T | CA501700896 | KCNJ2 | c.961C>T (p.Leu321=)
| gnomAD v4 |
17 | g.70176001T>A | CA400862847 | KCNJ2 | c.962T>A (p.Leu321Gln)
| |
17 | g.70176001T>C | CA400862848 | KCNJ2 | c.962T>C (p.Leu321Pro)
| |
17 | g.70176001T>G | CA400862851 | KCNJ2 | c.962T>G (p.Leu321Arg)
| |
17 | g.70176002G>A | CA501700900 | KCNJ2 | c.963G>A (p.Leu321=)
| gnomAD v4 |
17 | g.70176002G>C | CA501700898 | KCNJ2 | c.963G>C (p.Leu321=)
| |
17 | g.70176002G>T | CA501700897 | KCNJ2 | c.963G>T (p.Leu321=)
| |
17 | g.70176003T>A | CA400862853 | KCNJ2 | c.964T>A (p.Trp322Arg)
| |
17 | g.70176003T>C | CA400862855 | KCNJ2 | c.964T>C (p.Trp322Arg)
| gnomAD v4 |
17 | g.70176003T>G | CA400862857 | KCNJ2 | c.964T>G (p.Trp322Gly)
| |
17 | g.70176004G>A | CA400862862 | KCNJ2 | c.965G>A (p.Trp322Ter)
| |
17 | g.70176004G>C | CA400862861 | KCNJ2 | c.965G>C (p.Trp322Ser)
| |
17 | g.70176004G>T | CA400862860 | KCNJ2 | c.965G>T (p.Trp322Leu)
| |
17 | g.70176005G>A | CA400862865 | KCNJ2 | c.966G>A (p.Trp322Ter)
| |
17 | g.70176005G>C | CA347403 | KCNJ2 | c.966G>C (p.Trp322Cys)
| ClinVar dbSNP |
17 | g.70176005G= | CA2272996764 | KCNJ2 | c.966G= (p.Trp322=)
| |
17 | g.70176005G>T | CA400862867 | KCNJ2 | c.966G>T (p.Trp322Cys)
| |
17 | g.70176006G>A | CA400862869 | KCNJ2 | c.967G>A (p.Gly323Ser)
| |
17 | g.70176006G>C | CA400862871 | KCNJ2 | c.967G>C (p.Gly323Arg)
| |
17 | g.70176006G>T | CA400862873 | KCNJ2 | c.967G>T (p.Gly323Cys)
| |
17 | g.70176007G>A | CA400862875 | KCNJ2 | c.968G>A (p.Gly323Asp)
| |
17 | g.70176007G>C | CA400862877 | KCNJ2 | c.968G>C (p.Gly323Ala)
| |
17 | g.70176007G>T | CA400862879 | KCNJ2 | c.968G>T (p.Gly323Val)
| |
17 | g.70176008C>A | CA501700905 | KCNJ2 | c.969C>A (p.Gly323=)
| |
17 | g.70176008C>G | CA501700907 | KCNJ2 | c.969C>G (p.Gly323=)
| |
17 | g.70176008C>T | CA501700909 | KCNJ2 | c.969C>T (p.Gly323=)
| |
17 | g.70176009C>A | CA400862881 | KCNJ2 | c.970C>A (p.His324Asn)
| |
17 | g.70176009C>G | CA400862883 | KCNJ2 | c.970C>G (p.His324Asp)
| |
17 | g.70176009C>T | CA400862885 | KCNJ2 | c.970C>T (p.His324Tyr)
| |
17 | g.70176010A>C | CA400862887 | KCNJ2 | c.971A>C (p.His324Pro)
| |
17 | g.70176010A>G | CA400862891 | KCNJ2 | c.971A>G (p.His324Arg)
| |
17 | g.70176010A>T | CA400862889 | KCNJ2 | c.971A>T (p.His324Leu)
| |
17 | g.70176011C>A | CA400862893 | KCNJ2 | c.972C>A (p.His324Gln)
| |
17 | g.70176011C= | CA2272996765 | KCNJ2 | c.972C= (p.His324=)
| |
17 | g.70176011C>G | CA400862896 | KCNJ2 | c.972C>G (p.His324Gln)
| |
17 | g.70176011C>T | CA8738781 | KCNJ2 | c.972C>T (p.His324=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70176012C>A | CA400862898 | KCNJ2 | c.973C>A (p.Arg325Ser)
| |
17 | g.70176012C= | CA2272996766 | KCNJ2 | c.973C= (p.Arg325=)
| |
17 | g.70176012C>G | CA400862900 | KCNJ2 | c.973C>G (p.Arg325Gly)
| |
17 | g.70176012C>T | CA302073 | KCNJ2 | c.973C>T (p.Arg325Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70176013G>A | CA400862902 | KCNJ2 | c.974G>A (p.Arg325His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.70176013G>C | CA400862907 | KCNJ2 | c.974G>C (p.Arg325Pro)
| |
17 | g.70176013G= | CA2272996767 | KCNJ2 | c.974G= (p.Arg325=)
| |
17 | g.70176013G>T | CA400862909 | KCNJ2 | c.974G>T (p.Arg325Leu)
| |
17 | g.70176014C>A | CA501700911 | KCNJ2 | c.975C>A (p.Arg325=)
| |
17 | g.70176014C>G | CA501700912 | KCNJ2 | c.975C>G (p.Arg325=)
| |
17 | g.70176014C>T | CA501700913 | KCNJ2 | c.975C>T (p.Arg325=)
| gnomAD v4 |
17 | g.70176015T>A | CA302058 | KCNJ2 | c.976T>A (p.Tyr326Asn)
| ClinVar dbSNP |
17 | g.70176015T>C | CA400862911 | KCNJ2 | c.976T>C (p.Tyr326His)
| |
17 | g.70176015T>G | CA400862912 | KCNJ2 | c.976T>G (p.Tyr326Asp)
| |
17 | g.70176015T= | CA2272996768 | KCNJ2 | c.976T= (p.Tyr326=)
| |
17 | g.70176016A>C | CA400862919 | KCNJ2 | c.977A>C (p.Tyr326Ser)
| |
17 | g.70176016A>G | CA400862920 | KCNJ2 | c.977A>G (p.Tyr326Cys)
| |
17 | g.70176016A>T | CA400862921 | KCNJ2 | c.977A>T (p.Tyr326Phe)
| |
17 | g.70176017T>A | CA400862924 | KCNJ2 | c.978T>A (p.Tyr326Ter)
| |
17 | g.70176017T>C | CA501700915 | KCNJ2 | c.978T>C (p.Tyr326=)
| |
17 | g.70176017T>G | CA400862926 | KCNJ2 | c.978T>G (p.Tyr326Ter)
| |
17 | g.70176018G>A | CA400862928 | KCNJ2 | c.979G>A (p.Glu327Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.70176018G>C | CA400862931 | KCNJ2 | c.979G>C (p.Glu327Gln)
| |
17 | g.70176018G= | CA2272996769 | KCNJ2 | c.979G= (p.Glu327=)
| |
17 | g.70176018G>T | CA400862930 | KCNJ2 | c.979G>T (p.Glu327Ter)
| |
17 | g.70176019A>C | CA400862933 | KCNJ2 | c.980A>C (p.Glu327Ala)
| |
17 | g.70176019A>G | CA400862935 | KCNJ2 | c.980A>G (p.Glu327Gly)
| |
17 | g.70176019A>T | CA400862936 | KCNJ2 | c.980A>T (p.Glu327Val)
| |
17 | g.70176020G>A | CA501700918 | KCNJ2 | c.981G>A (p.Glu327=)
| |
17 | g.70176020G>C | CA400862939 | KCNJ2 | c.981G>C (p.Glu327Asp)
| |
17 | g.70176020G>T | CA400862941 | KCNJ2 | c.981G>T (p.Glu327Asp)
| |
17 | g.70176021C>A | CA400862943 | KCNJ2 | c.982C>A (p.Pro328Thr)
| |
17 | g.70176021C>G | CA400862945 | KCNJ2 | c.982C>G (p.Pro328Ala)
| |
17 | g.70176021C>T | CA400862946 | KCNJ2 | c.982C>T (p.Pro328Ser)
| dbSNP gnomAD v4 COSMIC |
17 | g.70176022C>A | CA400862949 | KCNJ2 | c.983C>A (p.Pro328His)
| |
17 | g.70176022C>G | CA400862951 | KCNJ2 | c.983C>G (p.Pro328Arg)
| |
17 | g.70176022C>T | CA400862952 | KCNJ2 | c.983C>T (p.Pro328Leu)
| |
17 | g.70176023T>A | CA501700921 | KCNJ2 | c.984T>A (p.Pro328=)
| |
17 | g.70176023T>C | CA293702930 | KCNJ2 | c.984T>C (p.Pro328=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70176023T>G | CA501700922 | KCNJ2 | c.984T>G (p.Pro328=)
| |
17 | g.70176023T= | CA2272996770 | KCNJ2 | c.984T= (p.Pro328=)
| |
17 | g.70176024G>A | CA400862955 | KCNJ2 | c.985G>A (p.Val329Met)
| |
17 | g.70176024G>C | CA8738782 | KCNJ2 | c.985G>C (p.Val329Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70176024G= | CA2272996771 | KCNJ2 | c.985G= (p.Val329=)
| |
17 | g.70176024G>T | CA400862957 | KCNJ2 | c.985G>T (p.Val329Leu)
| |
17 | g.70176025T>A | CA400862961 | KCNJ2 | c.986T>A (p.Val329Glu)
| |
17 | g.70176025T>C | CA400862962 | KCNJ2 | c.986T>C (p.Val329Ala)
| |
17 | g.70176025T>G | CA400862964 | KCNJ2 | c.986T>G (p.Val329Gly)
| |
17 | g.70176026G>A | CA501700923 | KCNJ2 | c.987G>A (p.Val329=)
| |
17 | g.70176026G>C | CA501700924 | KCNJ2 | c.987G>C (p.Val329=)
| |
17 | g.70176026G>T | CA501700926 | KCNJ2 | c.987G>T (p.Val329=)
| |
17 | g.70176027C>A | CA400862967 | KCNJ2 | c.988C>A (p.Leu330Ile)
| |
17 | g.70176027C= | CA2272996772 | KCNJ2 | c.988C= (p.Leu330=)
| |
17 | g.70176027C>G | CA400862969 | KCNJ2 | c.988C>G (p.Leu330Val)
| |
17 | g.70176027C>T | CA8738783 | KCNJ2 | c.988C>T (p.Leu330Phe)
| dbSNP ExAC gnomAD v4 |
17 | g.70176028T>A | CA400862971 | KCNJ2 | c.989T>A (p.Leu330His)
| |
17 | g.70176028T>C | CA400862976 | KCNJ2 | c.989T>C (p.Leu330Pro)
| |
17 | g.70176028T>G | CA400862978 | KCNJ2 | c.989T>G (p.Leu330Arg)
| |
17 | g.70176029C>A | CA501700927 | KCNJ2 | c.990C>A (p.Leu330=)
| |
17 | g.70176029C>G | CA501700928 | KCNJ2 | c.990C>G (p.Leu330=)
| COSMIC |
17 | g.70176029C>T | CA501700930 | KCNJ2 | c.990C>T (p.Leu330=)
| |
17 | g.70176030T>A | CA400862980 | KCNJ2 | c.991T>A (p.Phe331Ile)
| |
17 | g.70176030T>C | CA400862982 | KCNJ2 | c.991T>C (p.Phe331Leu)
| |
17 | g.70176030T>G | CA400862984 | KCNJ2 | c.991T>G (p.Phe331Val)
| |
17 | g.70176031T>A | CA400862991 | KCNJ2 | c.992T>A (p.Phe331Tyr)
| |
17 | g.70176031T>C | CA400862987 | KCNJ2 | c.992T>C (p.Phe331Ser)
| |
17 | g.70176031T>G | CA400862989 | KCNJ2 | c.992T>G (p.Phe331Cys)
| |
17 | g.70176032T>A | CA400862992 | KCNJ2 | c.993T>A (p.Phe331Leu)
| |
17 | g.70176032T>C | CA501700933 | KCNJ2 | c.993T>C (p.Phe331=)
| ClinVar gnomAD v4 |
17 | g.70176032T>G | CA400862994 | KCNJ2 | c.993T>G (p.Phe331Leu)
| |
17 | g.70176033G>A | CA400862996 | KCNJ2 | c.994G>A (p.Glu332Lys)
| |
17 | g.70176033G>C | CA400862999 | KCNJ2 | c.994G>C (p.Glu332Gln)
| |
17 | g.70176033G>T | CA400863000 | KCNJ2 | c.994G>T (p.Glu332Ter)
| |
17 | g.70176034A>C | CA400863003 | KCNJ2 | c.995A>C (p.Glu332Ala)
| |
17 | g.70176034A>G | CA400863004 | KCNJ2 | c.995A>G (p.Glu332Gly)
| |
17 | g.70176034A>T | CA400863006 | KCNJ2 | c.995A>T (p.Glu332Val)
| |
17 | g.70176035A= | CA2272996773 | KCNJ2 | c.996A= (p.Glu332=)
| |
17 | g.70176035A>C | CA400863009 | KCNJ2 | c.996A>C (p.Glu332Asp)
| |
17 | g.70176035A>G | CA8738784 | KCNJ2 | c.996A>G (p.Glu332=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70176035A>T | CA400863012 | KCNJ2 | c.996A>T (p.Glu332Asp)
| |
17 | g.70176036G>A | CA400863016 | KCNJ2 | c.997G>A (p.Glu333Lys)
| |
17 | g.70176036G>C | CA400863018 | KCNJ2 | c.997G>C (p.Glu333Gln)
| |
17 | g.70176036G>T | CA400863014 | KCNJ2 | c.997G>T (p.Glu333Ter)
| |
17 | g.70176037A>C | CA400863020 | KCNJ2 | c.998A>C (p.Glu333Ala)
| |
17 | g.70176037A>G | CA400863022 | KCNJ2 | c.998A>G (p.Glu333Gly)
| |
17 | g.70176037A>T | CA400863024 | KCNJ2 | c.998A>T (p.Glu333Val)
| |
17 | g.70176038G>A | CA501700938 | KCNJ2 | c.999G>A (p.Glu333=)
| ClinVar dbSNP |
17 | g.70176038G>C | CA400863026 | KCNJ2 | c.999G>C (p.Glu333Asp)
| gnomAD v4 |
17 | g.70176038G>T | CA400863028 | KCNJ2 | c.999G>T (p.Glu333Asp)
| |
17 | g.70176039A>C | CA400863034 | KCNJ2 | c.1000A>C (p.Lys334Gln)
| |
17 | g.70176039A>G | CA400863032 | KCNJ2 | c.1000A>G (p.Lys334Glu)
| |
17 | g.70176039A>T | CA400863030 | KCNJ2 | c.1000A>T (p.Lys334Ter)
| |
17 | g.70176040A= | CA2272996774 | KCNJ2 | c.1001A= (p.Lys334=)
| |
17 | g.70176040A>C | CA400863036 | KCNJ2 | c.1001A>C (p.Lys334Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.70176040A>G | CA400863038 | KCNJ2 | c.1001A>G (p.Lys334Arg)
| |
17 | g.70176040A>T | CA400863040 | KCNJ2 | c.1001A>T (p.Lys334Met)
| |
17 | g.70176041G>A | CA8738785 | KCNJ2 | c.1002G>A (p.Lys334=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70176041G>C | CA400863043 | KCNJ2 | c.1002G>C (p.Lys334Asn)
| |
17 | g.70176041G= | CA2272996775 | KCNJ2 | c.1002G= (p.Lys334=)
| |
17 | g.70176041G>T | CA400863045 | KCNJ2 | c.1002G>T (p.Lys334Asn)
| |
17 | g.70176042C>A | CA400863051 | KCNJ2 | c.1003C>A (p.His335Asn)
| |
17 | g.70176042C>G | CA400863047 | KCNJ2 | c.1003C>G (p.His335Asp)
| |
17 | g.70176042C>T | CA400863049 | KCNJ2 | c.1003C>T (p.His335Tyr)
| COSMIC |
17 | g.70176042_70176045delinsCACT | CA2272996776 | KCNJ2 | c.1003_1006delinsCACT (p.His335=)
| |
17 | g.70176043A>C | CA400863052 | KCNJ2 | c.1004A>C (p.His335Pro)
| |
17 | g.70176043A>G | CA400863053 | KCNJ2 | c.1004A>G (p.His335Arg)
| |
17 | g.70176043A>T | CA400863054 | KCNJ2 | c.1004A>T (p.His335Leu)
| |
17 | g.70176048_70176050del | CA658798967 | KCNJ2 | c.1009_1011del (p.Tyr337del)
| ClinVar dbSNP |
17 | g.70176044C>A | CA400863056 | KCNJ2 | c.1005C>A (p.His335Gln)
| |
17 | g.70176044C>G | CA400863058 | KCNJ2 | c.1005C>G (p.His335Gln)
| |
17 | g.70176044C>T | CA501700945 | KCNJ2 | c.1005C>T (p.His335=)
| ClinVar dbSNP gnomAD v4 |
17 | g.70176045T>A | CA400863061 | KCNJ2 | c.1006T>A (p.Tyr336Asn)
| |
17 | g.70176045T>C | CA400863063 | KCNJ2 | c.1006T>C (p.Tyr336His)
| |
17 | g.70176045T>G | CA400863065 | KCNJ2 | c.1006T>G (p.Tyr336Asp)
| |
17 | g.70176046A= | CA2272996777 | KCNJ2 | c.1007A= (p.Tyr336=)
| |
17 | g.70176046A>C | CA400863067 | KCNJ2 | c.1007A>C (p.Tyr336Ser)
| |
17 | g.70176046A>G | CA400863069 | KCNJ2 | c.1007A>G (p.Tyr336Cys)
| ClinVar dbSNP |
17 | g.70176046A>T | CA400863070 | KCNJ2 | c.1007A>T (p.Tyr336Phe)
| |
17 | g.70176047C>A | CA400863072 | KCNJ2 | c.1008C>A (p.Tyr336Ter)
| |
17 | g.70176047C>G | CA400863074 | KCNJ2 | c.1008C>G (p.Tyr336Ter)
| |
17 | g.70176047C>T | CA501700949 | KCNJ2 | c.1008C>T (p.Tyr336=)
| |
17 | g.70176048T>A | CA400863075 | KCNJ2 | c.1009T>A (p.Tyr337Asn)
| |
17 | g.70176048T>C | CA400863078 | KCNJ2 | c.1009T>C (p.Tyr337His)
| |
17 | g.70176048T>G | CA400863077 | KCNJ2 | c.1009T>G (p.Tyr337Asp)
| |
17 | g.70176049A>C | CA400863080 | KCNJ2 | c.1010A>C (p.Tyr337Ser)
| |
17 | g.70176049A>G | CA400863082 | KCNJ2 | c.1010A>G (p.Tyr337Cys)
| ClinVar |
17 | g.70176049A>T | CA400863084 | KCNJ2 | c.1010A>T (p.Tyr337Phe)
| |
17 | g.70176050C>A | CA400863086 | KCNJ2 | c.1011C>A (p.Tyr337Ter)
| |
17 | g.70176050C= | CA2272996778 | KCNJ2 | c.1011C= (p.Tyr337=)
| |
17 | g.70176050C>G | CA400863088 | KCNJ2 | c.1011C>G (p.Tyr337Ter)
| |
17 | g.70176050C>T | CA501700950 | KCNJ2 | c.1011C>T (p.Tyr337=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.70176051A>C | CA400863090 | KCNJ2 | c.1012A>C (p.Lys338Gln)
| gnomAD v4 |
17 | g.70176051A>G | CA400863092 | KCNJ2 | c.1012A>G (p.Lys338Glu)
| |
17 | g.70176051A>T | CA400863094 | KCNJ2 | c.1012A>T (p.Lys338Ter)
| |
17 | g.70176052A>C | CA400863097 | KCNJ2 | c.1013A>C (p.Lys338Thr)
| |
17 | g.70176052A>G | CA400863099 | KCNJ2 | c.1013A>G (p.Lys338Arg)
| |
17 | g.70176052A>T | CA400863100 | KCNJ2 | c.1013A>T (p.Lys338Ile)
| |
17 | g.70176053A>C | CA400863101 | KCNJ2 | c.1014A>C (p.Lys338Asn)
| |
17 | g.70176053A>G | CA501700951 | KCNJ2 | c.1014A>G (p.Lys338=)
| |
17 | g.70176053A>T | CA400863103 | KCNJ2 | c.1014A>T (p.Lys338Asn)
| |
17 | g.70176054G>A | CA400863110 | KCNJ2 | c.1015G>A (p.Val339Met)
| |
17 | g.70176054G>C | CA400863106 | KCNJ2 | c.1015G>C (p.Val339Leu)
| ClinVar |
17 | g.70176054G>T | CA400863108 | KCNJ2 | c.1015G>T (p.Val339Leu)
| |
17 | g.70176055T>A | CA400863113 | KCNJ2 | c.1016T>A (p.Val339Glu)
| |
17 | g.70176055T>C | CA400863115 | KCNJ2 | c.1016T>C (p.Val339Ala)
| gnomAD v4 |
17 | g.70176055T>G | CA400863117 | KCNJ2 | c.1016T>G (p.Val339Gly)
| |
17 | g.70176056G>A | CA501700952 | KCNJ2 | c.1017G>A (p.Val339=)
| |
17 | g.70176056G>C | CA501700953 | KCNJ2 | c.1017G>C (p.Val339=)
| |
17 | g.70176056G>T | CA501700954 | KCNJ2 | c.1017G>T (p.Val339=)
| |
17 | g.70176057G>A | CA400863119 | KCNJ2 | c.1018G>A (p.Asp340Asn)
| |
17 | g.70176057G>C | CA400863121 | KCNJ2 | c.1018G>C (p.Asp340His)
| |
17 | g.70176057G>T | CA400863122 | KCNJ2 | c.1018G>T (p.Asp340Tyr)
| |
17 | g.70176058A>C | CA400863125 | KCNJ2 | c.1019A>C (p.Asp340Ala)
| |
17 | g.70176058A>G | CA400863126 | KCNJ2 | c.1019A>G (p.Asp340Gly)
| gnomAD v4 |
17 | g.70176058A>T | CA400863128 | KCNJ2 | c.1019A>T (p.Asp340Val)
| |
17 | g.70176059C>A | CA400863129 | KCNJ2 | c.1020C>A (p.Asp340Glu)
| |
17 | g.70176059C>G | CA400863131 | KCNJ2 | c.1020C>G (p.Asp340Glu)
| gnomAD v4 |
17 | g.70176059C>T | CA501700955 | KCNJ2 | c.1020C>T (p.Asp340=)
| |
17 | g.70176059dup | CA2639594071 | KCNJ2 | c.1020dup (p.Tyr341LeufsTer17)
| gnomAD v4 |
17 | g.70176060T>A | CA400863134 | KCNJ2 | c.1021T>A (p.Tyr341Asn)
| COSMIC |
17 | g.70176060T>C | CA400863138 | KCNJ2 | c.1021T>C (p.Tyr341His)
| |
17 | g.70176060T>G | CA400863135 | KCNJ2 | c.1021T>G (p.Tyr341Asp)
| |
17 | g.70176061A>C | CA400863140 | KCNJ2 | c.1022A>C (p.Tyr341Ser)
| |
17 | g.70176061A>G | CA400863144 | KCNJ2 | c.1022A>G (p.Tyr341Cys)
| gnomAD v4 |
17 | g.70176061A>T | CA400863142 | KCNJ2 | c.1022A>T (p.Tyr341Phe)
| |
17 | g.70176062T>A | CA400863146 | KCNJ2 | c.1023T>A (p.Tyr341Ter)
| |
17 | g.70176062T>C | CA501700956 | KCNJ2 | c.1023T>C (p.Tyr341=)
| |
17 | g.70176062T>G | CA400863147 | KCNJ2 | c.1023T>G (p.Tyr341Ter)
| |
17 | g.70176063T>A | CA400863149 | KCNJ2 | c.1024T>A (p.Ser342Thr)
| |
17 | g.70176063T>C | CA400863150 | KCNJ2 | c.1024T>C (p.Ser342Pro)
| |
17 | g.70176063T>G | CA400863151 | KCNJ2 | c.1024T>G (p.Ser342Ala)
| |
17 | g.70176064C>A | CA400863154 | KCNJ2 | c.1025C>A (p.Ser342Tyr)
| |
17 | g.70176064C= | CA2272996779 | KCNJ2 | c.1025C= (p.Ser342=)
| |
17 | g.70176064C>G | CA400863156 | KCNJ2 | c.1025C>G (p.Ser342Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70176064C>T | CA400863158 | KCNJ2 | c.1025C>T (p.Ser342Phe)
| dbSNP gnomAD v2 |
17 | g.70176065C>A | CA501700957 | KCNJ2 | c.1026C>A (p.Ser342=)
| |
17 | g.70176065C>G | CA501700958 | KCNJ2 | c.1026C>G (p.Ser342=)
| |
17 | g.70176065C>T | CA501700959 | KCNJ2 | c.1026C>T (p.Ser342=)
| gnomAD v4 |
17 | g.70176066A>C | CA501700960 | KCNJ2 | c.1027A>C (p.Arg343=)
| |
17 | g.70176066A>G | CA400863159 | KCNJ2 | c.1027A>G (p.Arg343Gly)
| gnomAD v4 |
17 | g.70176066A>T | CA400863161 | KCNJ2 | c.1027A>T (p.Arg343Trp)
| |
17 | g.70176067G>A | CA400863163 | KCNJ2 | c.1028G>A (p.Arg343Lys)
| |
17 | g.70176067G>C | CA400863165 | KCNJ2 | c.1028G>C (p.Arg343Thr)
| |
17 | g.70176067G>T | CA400863167 | KCNJ2 | c.1028G>T (p.Arg343Met)
| |
17 | g.70176068G>A | CA501700961 | KCNJ2 | c.1029G>A (p.Arg343=)
| |
17 | g.70176068G>C | CA400863170 | KCNJ2 | c.1029G>C (p.Arg343Ser)
| |
17 | g.70176068G>T | CA400863171 | KCNJ2 | c.1029G>T (p.Arg343Ser)
| |
17 | g.70176069T>A | CA400863174 | KCNJ2 | c.1030T>A (p.Phe344Ile)
| |
17 | g.70176069T>C | CA400863176 | KCNJ2 | c.1030T>C (p.Phe344Leu)
| |
17 | g.70176069T>G | CA400863178 | KCNJ2 | c.1030T>G (p.Phe344Val)
| |
17 | g.70176070T>A | CA400863180 | KCNJ2 | c.1031T>A (p.Phe344Tyr)
| |
17 | g.70176070T>C | CA400863182 | KCNJ2 | c.1031T>C (p.Phe344Ser)
| |
17 | g.70176070T>G | CA400863184 | KCNJ2 | c.1031T>G (p.Phe344Cys)
| |
17 | g.70176071C>A | CA400863186 | KCNJ2 | c.1032C>A (p.Phe344Leu)
| |
17 | g.70176071C>G | CA400863188 | KCNJ2 | c.1032C>G (p.Phe344Leu)
| |
17 | g.70176071C>T | CA501700962 | KCNJ2 | c.1032C>T (p.Phe344=)
| |
17 | g.70176072C>A | CA400863191 | KCNJ2 | c.1033C>A (p.His345Asn)
| |
17 | g.70176072C>G | CA400863193 | KCNJ2 | c.1033C>G (p.His345Asp)
| |
17 | g.70176072C>T | CA400863195 | KCNJ2 | c.1033C>T (p.His345Tyr)
| |
17 | g.70176073A= | CA2272996780 | KCNJ2 | c.1034A= (p.His345=)
| |
17 | g.70176073A>C | CA400863201 | KCNJ2 | c.1034A>C (p.His345Pro)
| |
17 | g.70176073A>G | CA400863199 | KCNJ2 | c.1034A>G (p.His345Arg)
| dbSNP |
17 | g.70176073A>T | CA400863197 | KCNJ2 | c.1034A>T (p.His345Leu)
| |
17 | g.70176074C>A | CA400863207 | KCNJ2 | c.1035C>A (p.His345Gln)
| |
17 | g.70176074C= | CA2272996781 | KCNJ2 | c.1035C= (p.His345=)
| |
17 | g.70176074C>G | CA400863203 | KCNJ2 | c.1035C>G (p.His345Gln)
| |
17 | g.70176074C>T | CA291739 | KCNJ2 | c.1035C>T (p.His345=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70176075A>C | CA400863209 | KCNJ2 | c.1036A>C (p.Lys346Gln)
| |
17 | g.70176075A>G | CA400863212 | KCNJ2 | c.1036A>G (p.Lys346Glu)
| |
17 | g.70176075A>T | CA400863214 | KCNJ2 | c.1036A>T (p.Lys346Ter)
| |
17 | g.70176076A>C | CA400863217 | KCNJ2 | c.1037A>C (p.Lys346Thr)
| |
17 | g.70176076A>G | CA400863219 | KCNJ2 | c.1037A>G (p.Lys346Arg)
| |
17 | g.70176076A>T | CA400863220 | KCNJ2 | c.1037A>T (p.Lys346Ile)
| |
17 | g.70176077A>C | CA400863223 | KCNJ2 | c.1038A>C (p.Lys346Asn)
| |
17 | g.70176077A>G | CA501700963 | KCNJ2 | c.1038A>G (p.Lys346=)
| |
17 | g.70176077A>T | CA400863224 | KCNJ2 | c.1038A>T (p.Lys346Asn)
| |
17 | g.70176078A>C | CA400863226 | KCNJ2 | c.1039A>C (p.Thr347Pro)
| |
17 | g.70176078A>G | CA400863228 | KCNJ2 | c.1039A>G (p.Thr347Ala)
| |
17 | g.70176078A>T | CA400863230 | KCNJ2 | c.1039A>T (p.Thr347Ser)
| |
17 | g.70176079C>A | CA400863237 | KCNJ2 | c.1040C>A (p.Thr347Asn)
| |
17 | g.70176079C>G | CA400863234 | KCNJ2 | c.1040C>G (p.Thr347Ser)
| |
17 | g.70176079C>T | CA400863236 | KCNJ2 | c.1040C>T (p.Thr347Ile)
| |
17 | g.70176080T>A | CA501700964 | KCNJ2 | c.1041T>A (p.Thr347=)
| |
17 | g.70176080T>C | CA501700965 | KCNJ2 | c.1041T>C (p.Thr347=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.70176080T>G | CA501700966 | KCNJ2 | c.1041T>G (p.Thr347=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.70176080T= | CA2272996782 | KCNJ2 | c.1041T= (p.Thr347=)
| |
17 | g.70176081T>A | CA400863240 | KCNJ2 | c.1042T>A (p.Tyr348Asn)
| |
17 | g.70176081T>C | CA400863241 | KCNJ2 | c.1042T>C (p.Tyr348His)
| |
17 | g.70176081T>G | CA400863243 | KCNJ2 | c.1042T>G (p.Tyr348Asp)
| |
17 | g.70176081T= | CA2272996783 | KCNJ2 | c.1042T= (p.Tyr348=)
| |
17 | g.70176082A>C | CA400863246 | KCNJ2 | c.1043A>C (p.Tyr348Ser)
| |
17 | g.70176082A>G | CA400863247 | KCNJ2 | c.1043A>G (p.Tyr348Cys)
| ClinVar dbSNP gnomAD v4 |
17 | g.70176082A>T | CA400863249 | KCNJ2 | c.1043A>T (p.Tyr348Phe)
| |
17 | g.70176082dup | CA8738786 | KCNJ2 | c.1043dup (p.Tyr348Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70176083C>A | CA400863250 | KCNJ2 | c.1044C>A (p.Tyr348Ter)
| |
17 | g.70176083C= | CA2272996784 | KCNJ2 | c.1044C= (p.Tyr348=)
| |
17 | g.70176083C>G | CA400863252 | KCNJ2 | c.1044C>G (p.Tyr348Ter)
| |
17 | g.70176083C>T | CA8738787 | KCNJ2 | c.1044C>T (p.Tyr348=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |