Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.70176078dup | CA2843448373 | KCNJ2 | c.1039dup (p.Thr347AsnfsTer11) | |
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 |
17 | g.70176084G>A | CA302061 | KCNJ2 | c.1045G>A (p.Glu349Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70176084G>C | CA400863255 | KCNJ2 | c.1045G>C (p.Glu349Gln) | |
17 | g.70176084G= | CA2272996785 | KCNJ2 | c.1045G= (p.Glu349=) | |
17 | g.70176084G>T | CA400863257 | KCNJ2 | c.1045G>T (p.Glu349Ter) | |
17 | g.70176085A>C | CA400863264 | KCNJ2 | c.1046A>C (p.Glu349Ala) | |
17 | g.70176085A>G | CA400863262 | KCNJ2 | c.1046A>G (p.Glu349Gly) | gnomAD v4 |
17 | g.70176085A>T | CA400863259 | KCNJ2 | c.1046A>T (p.Glu349Val) | |
17 | g.70176086A>C | CA400863266 | KCNJ2 | c.1047A>C (p.Glu349Asp) | |
17 | g.70176086A>G | CA501700967 | KCNJ2 | c.1047A>G (p.Glu349=) | gnomAD v4 |
17 | g.70176086A>T | CA400863267 | KCNJ2 | c.1047A>T (p.Glu349Asp) | |
17 | g.70176087G>A | CA400863270 | KCNJ2 | c.1048G>A (p.Val350Ile) | |
17 | g.70176087G>C | CA400863272 | KCNJ2 | c.1048G>C (p.Val350Leu) | |
17 | g.70176087G>T | CA400863274 | KCNJ2 | c.1048G>T (p.Val350Phe) | |
17 | g.70176088T>A | CA400863276 | KCNJ2 | c.1049T>A (p.Val350Asp) | |
17 | g.70176088T>C | CA400863278 | KCNJ2 | c.1049T>C (p.Val350Ala) | |
17 | g.70176088T>G | CA400863280 | KCNJ2 | c.1049T>G (p.Val350Gly) | |
17 | g.70176089C>A | CA501700968 | KCNJ2 | c.1050C>A (p.Val350=) | |
17 | g.70176089C>G | CA501700969 | KCNJ2 | c.1050C>G (p.Val350=) | ClinVar |
17 | g.70176089C>T | CA501700970 | KCNJ2 | c.1050C>T (p.Val350=) | |
17 | g.70176092dup | CA2843448374 | KCNJ2 | c.1053dup (p.Asn352GlnfsTer6) | |
17 | g.70176090C>A | CA400863282 | KCNJ2 | c.1051C>A (p.Pro351Thr) | |
17 | g.70176090C= | CA2272996786 | KCNJ2 | c.1051C= (p.Pro351=) | |
17 | g.70176090C>G | CA400863285 | KCNJ2 | c.1051C>G (p.Pro351Ala) | |
17 | g.70176090C>T | CA329633 | KCNJ2 | c.1051C>T (p.Pro351Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.70176091C>A | CA400863288 | KCNJ2 | c.1052C>A (p.Pro351His) | |
17 | g.70176091C>G | CA400863290 | KCNJ2 | c.1052C>G (p.Pro351Arg) | |
17 | g.70176091C>T | CA400863292 | KCNJ2 | c.1052C>T (p.Pro351Leu) | |
17 | g.70176092C>A | CA501700376 | KCNJ2 | c.1053C>A (p.Pro351=) | |
17 | g.70176092C>G | CA501700377 | KCNJ2 | c.1053C>G (p.Pro351=) | gnomAD v4 |
17 | g.70176092C>T | CA501700378 | KCNJ2 | c.1053C>T (p.Pro351=) | ClinVar dbSNP gnomAD v4 |
17 | g.70176093A>C | CA400863298 | KCNJ2 | c.1054A>C (p.Asn352His) | |
17 | g.70176093A>G | CA400863295 | KCNJ2 | c.1054A>G (p.Asn352Asp) | |
17 | g.70176093A>T | CA400863296 | KCNJ2 | c.1054A>T (p.Asn352Tyr) | |
17 | g.70176094A>C | CA400863300 | KCNJ2 | c.1055A>C (p.Asn352Thr) | |
17 | g.70176094A>G | CA400863301 | KCNJ2 | c.1055A>G (p.Asn352Ser) | gnomAD v4 |
17 | g.70176094A>T | CA400863303 | KCNJ2 | c.1055A>T (p.Asn352Ile) | |
17 | g.70176095C>A | CA400863306 | KCNJ2 | c.1056C>A (p.Asn352Lys) | |
17 | g.70176095C= | CA2272996787 | KCNJ2 | c.1056C= (p.Asn352=) | |
17 | g.70176095C>G | CA400863307 | KCNJ2 | c.1056C>G (p.Asn352Lys) | |
17 | g.70176095C>T | CA501700380 | KCNJ2 | c.1056C>T (p.Asn352=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70176096A= | CA2272996788 | KCNJ2 | c.1057A= (p.Thr353=) | |
17 | g.70176096A>C | CA400863311 | KCNJ2 | c.1057A>C (p.Thr353Pro) | |
17 | g.70176096A>G | CA8738788 | KCNJ2 | c.1057A>G (p.Thr353Ala) | dbSNP ExAC gnomAD v4 |
17 | g.70176096A>T | CA400863313 | KCNJ2 | c.1057A>T (p.Thr353Ser) | |
17 | g.70176097C>A | CA400863315 | KCNJ2 | c.1058C>A (p.Thr353Asn) | |
17 | g.70176097C= | CA2272996789 | KCNJ2 | c.1058C= (p.Thr353=) | |
17 | g.70176097C>G | CA400863317 | KCNJ2 | c.1058C>G (p.Thr353Ser) | gnomAD v4 |
17 | g.70176097C>T | CA400863319 | KCNJ2 | c.1058C>T (p.Thr353Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70176098T>A | CA501700388 | KCNJ2 | c.1059T>A (p.Thr353=) | |
17 | g.70176098T>C | CA501700389 | KCNJ2 | c.1059T>C (p.Thr353=) | |
17 | g.70176098T>G | CA501700387 | KCNJ2 | c.1059T>G (p.Thr353=) | |
17 | g.70176099C>A | CA400863326 | KCNJ2 | c.1060C>A (p.Pro354Thr) | |
17 | g.70176099C>G | CA400863324 | KCNJ2 | c.1060C>G (p.Pro354Ala) | |
17 | g.70176099C>T | CA400863322 | KCNJ2 | c.1060C>T (p.Pro354Ser) | gnomAD v4 |
17 | g.70176100C>A | CA400863331 | KCNJ2 | c.1061C>A (p.Pro354His) | |
17 | g.70176100C>G | CA400863328 | KCNJ2 | c.1061C>G (p.Pro354Arg) | |
17 | g.70176100C>T | CA400863329 | KCNJ2 | c.1061C>T (p.Pro354Leu) | |
17 | g.70176101C>A | CA501700397 | KCNJ2 | c.1062C>A (p.Pro354=) | |
17 | g.70176101C= | CA2272996790 | KCNJ2 | c.1062C= (p.Pro354=) | |
17 | g.70176101C>G | CA501700393 | KCNJ2 | c.1062C>G (p.Pro354=) | dbSNP gnomAD v4 |
17 | g.70176101C>T | CA501700394 | KCNJ2 | c.1062C>T (p.Pro354=) | COSMIC |
17 | g.70176102C>A | CA400863333 | KCNJ2 | c.1063C>A (p.Leu355Ile) | |
17 | g.70176102C= | CA2272996791 | KCNJ2 | c.1063C= (p.Leu355=) | |
17 | g.70176102C>G | CA400863335 | KCNJ2 | c.1063C>G (p.Leu355Val) | |
17 | g.70176102C>T | CA400863336 | KCNJ2 | c.1063C>T (p.Leu355Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70176103T>A | CA400863338 | KCNJ2 | c.1064T>A (p.Leu355His) | |
17 | g.70176103T>C | CA400863340 | KCNJ2 | c.1064T>C (p.Leu355Pro) | |
17 | g.70176103T>G | CA400863342 | KCNJ2 | c.1064T>G (p.Leu355Arg) | |
17 | g.70176104T>A | CA501700399 | KCNJ2 | c.1065T>A (p.Leu355=) | |
17 | g.70176104T>C | CA501700405 | KCNJ2 | c.1065T>C (p.Leu355=) | |
17 | g.70176104T>G | CA291742 | KCNJ2 | c.1065T>G (p.Leu355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70176104T= | CA2272996792 | KCNJ2 | c.1065T= (p.Leu355=) | |
17 | g.70176105T>A | CA400863345 | KCNJ2 | c.1066T>A (p.Cys356Ser) | gnomAD v4 |
17 | g.70176105T>C | CA400863347 | KCNJ2 | c.1066T>C (p.Cys356Arg) | |
17 | g.70176105T>G | CA400863349 | KCNJ2 | c.1066T>G (p.Cys356Gly) | |
17 | g.70176106G>A | CA400863356 | KCNJ2 | c.1067G>A (p.Cys356Tyr) | |
17 | g.70176106G>C | CA400863354 | KCNJ2 | c.1067G>C (p.Cys356Ser) | |
17 | g.70176106G= | CA2272996793 | KCNJ2 | c.1067G= (p.Cys356=) | |
17 | g.70176106G>T | CA293702931 | KCNJ2 | c.1067G>T (p.Cys356Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |