Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175579G>A | CA400860915 | KCNJ2 | c.540G>A (p.Met180Ile) | gnomAD v4 |
17 | g.70175579G>C | CA400860917 | KCNJ2 | c.540G>C (p.Met180Ile) | |
17 | g.70175579G>T | CA400860918 | KCNJ2 | c.540G>T (p.Met180Ile) | COSMIC |
17 | g.70175580G>A | CA400860921 | KCNJ2 | c.541G>A (p.Ala181Thr) | |
17 | g.70175580G>C | CA400860923 | KCNJ2 | c.541G>C (p.Ala181Pro) | |
17 | g.70175580G>T | CA400860924 | KCNJ2 | c.541G>T (p.Ala181Ser) | |
17 | g.70175581C>A | CA400860926 | KCNJ2 | c.542C>A (p.Ala181Asp) | |
17 | g.70175581C>G | CA400860928 | KCNJ2 | c.542C>G (p.Ala181Gly) | |
17 | g.70175581C>T | CA400860930 | KCNJ2 | c.542C>T (p.Ala181Val) | |
17 | g.70175582C>A | CA501700494 | KCNJ2 | c.543C>A (p.Ala181=) | |
17 | g.70175582C>G | CA501700497 | KCNJ2 | c.543C>G (p.Ala181=) | |
17 | g.70175582C>T | CA501700495 | KCNJ2 | c.543C>T (p.Ala181=) | gnomAD v4 |
17 | g.70175583A>C | CA400860934 | KCNJ2 | c.544A>C (p.Lys182Gln) | |
17 | g.70175583A>G | CA400860937 | KCNJ2 | c.544A>G (p.Lys182Glu) | |
17 | g.70175583A>T | CA400860932 | KCNJ2 | c.544A>T (p.Lys182Ter) | |
17 | g.70175584A>C | CA400860943 | KCNJ2 | c.545A>C (p.Lys182Thr) | |
17 | g.70175584A>G | CA400860939 | KCNJ2 | c.545A>G (p.Lys182Arg) | |
17 | g.70175584A>T | CA400860941 | KCNJ2 | c.545A>T (p.Lys182Met) | |
17 | g.70175585G>A | CA501700503 | KCNJ2 | c.546G>A (p.Lys182=) | |
17 | g.70175585G>C | CA400860945 | KCNJ2 | c.546G>C (p.Lys182Asn) | |
17 | g.70175585G>T | CA400860947 | KCNJ2 | c.546G>T (p.Lys182Asn) | |
17 | g.70175586A>C | CA400860950 | KCNJ2 | c.547A>C (p.Met183Leu) | |
17 | g.70175586A>G | CA400860952 | KCNJ2 | c.547A>G (p.Met183Val) | |
17 | g.70175586A>T | CA400860953 | KCNJ2 | c.547A>T (p.Met183Leu) | |
17 | g.70175587T>A | CA400860955 | KCNJ2 | c.548T>A (p.Met183Lys) | |
17 | g.70175587T>C | CA400860957 | KCNJ2 | c.548T>C (p.Met183Thr) | |
17 | g.70175587T>G | CA400860959 | KCNJ2 | c.548T>G (p.Met183Arg) | |
17 | g.70175588G>A | CA400860962 | KCNJ2 | c.549G>A (p.Met183Ile) | |
17 | g.70175588G>C | CA400860963 | KCNJ2 | c.549G>C (p.Met183Ile) | |
17 | g.70175588G>T | CA400860965 | KCNJ2 | c.549G>T (p.Met183Ile) | |
17 | g.70175589G>A | CA400860970 | KCNJ2 | c.550G>A (p.Ala184Thr) | |
17 | g.70175589G>C | CA400860968 | KCNJ2 | c.550G>C (p.Ala184Pro) | |
17 | g.70175589G>T | CA400860966 | KCNJ2 | c.550G>T (p.Ala184Ser) | |
17 | g.70175590C>A | CA400860972 | KCNJ2 | c.551C>A (p.Ala184Glu) | |
17 | g.70175590C>G | CA400860974 | KCNJ2 | c.551C>G (p.Ala184Gly) | |
17 | g.70175590C>T | CA400860975 | KCNJ2 | c.551C>T (p.Ala184Val) | |
17 | g.70175591A>C | CA501700518 | KCNJ2 | c.552A>C (p.Ala184=) | |
17 | g.70175591A>G | CA501700519 | KCNJ2 | c.552A>G (p.Ala184=) | |
17 | g.70175591A>T | CA501700520 | KCNJ2 | c.552A>T (p.Ala184=) | |
17 | g.70175592A>C | CA400860977 | KCNJ2 | c.553A>C (p.Lys185Gln) | |
17 | g.70175592A>G | CA400860978 | KCNJ2 | c.553A>G (p.Lys185Glu) | ClinVar |
17 | g.70175592A>T | CA400860980 | KCNJ2 | c.553A>T (p.Lys185Ter) | |
17 | g.70175593A>C | CA400860983 | KCNJ2 | c.554A>C (p.Lys185Thr) | |
17 | g.70175593A>G | CA400860985 | KCNJ2 | c.554A>G (p.Lys185Arg) | |
17 | g.70175593A>T | CA400860986 | KCNJ2 | c.554A>T (p.Lys185Met) | |
17 | g.70175594G>A | CA501700527 | KCNJ2 | c.555G>A (p.Lys185=) | gnomAD v4 |
17 | g.70175594G>C | CA400860989 | KCNJ2 | c.555G>C (p.Lys185Asn) | |
17 | g.70175594G>T | CA400860990 | KCNJ2 | c.555G>T (p.Lys185Asn) | |
17 | g.70175595C>A | CA400860991 | KCNJ2 | c.556C>A (p.Pro186Thr) | |
17 | g.70175595C>G | CA400860993 | KCNJ2 | c.556C>G (p.Pro186Ala) | |
17 | g.70175595C>T | CA400860994 | KCNJ2 | c.556C>T (p.Pro186Ser) | |
17 | g.70175596C>A | CA400860997 | KCNJ2 | c.557C>A (p.Pro186Gln) | ClinVar dbSNP |
17 | g.70175596C= | CA2272996615 | KCNJ2 | c.557C= (p.Pro186=) | |
17 | g.70175596C>G | CA400860998 | KCNJ2 | c.557C>G (p.Pro186Arg) | |
17 | g.70175596C>T | CA254596 | KCNJ2 | c.557C>T (p.Pro186Leu) | ClinVar dbSNP |
17 | g.70175597A= | CA2272996616 | KCNJ2 | c.558A= (p.Pro186=) | |
17 | g.70175597A>C | CA501700533 | KCNJ2 | c.558A>C (p.Pro186=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175597A>G | CA8738743 | KCNJ2 | c.558A>G (p.Pro186=) | dbSNP ExAC gnomAD v2 |
17 | g.70175597A>T | CA501700534 | KCNJ2 | c.558A>T (p.Pro186=) | |
17 | g.70175598A>C | CA400861000 | KCNJ2 | c.559A>C (p.Lys187Gln) | |
17 | g.70175598A>G | CA400861001 | KCNJ2 | c.559A>G (p.Lys187Glu) | |
17 | g.70175598A>T | CA400861003 | KCNJ2 | c.559A>T (p.Lys187Ter) | |
17 | g.70175599A>C | CA400861005 | KCNJ2 | c.560A>C (p.Lys187Thr) | |
17 | g.70175599A>G | CA400861007 | KCNJ2 | c.560A>G (p.Lys187Arg) | |
17 | g.70175599A>T | CA400861009 | KCNJ2 | c.560A>T (p.Lys187Met) | |
17 | g.70175600G>A | CA501700539 | KCNJ2 | c.561G>A (p.Lys187=) | |
17 | g.70175600G>C | CA400861011 | KCNJ2 | c.561G>C (p.Lys187Asn) | |
17 | g.70175600G>T | CA400861012 | KCNJ2 | c.561G>T (p.Lys187Asn) | |
17 | g.70175601A>C | CA400861015 | KCNJ2 | c.562A>C (p.Lys188Gln) | |
17 | g.70175601A>G | CA400861017 | KCNJ2 | c.562A>G (p.Lys188Glu) | |
17 | g.70175601A>T | CA400861019 | KCNJ2 | c.562A>T (p.Lys188Ter) | gnomAD v4 |
17 | g.70175602A>C | CA400861024 | KCNJ2 | c.563A>C (p.Lys188Thr) | |
17 | g.70175602A>G | CA400861023 | KCNJ2 | c.563A>G (p.Lys188Arg) | |
17 | g.70175602A>T | CA400861022 | KCNJ2 | c.563A>T (p.Lys188Met) | COSMIC |
17 | g.70175603G>A | CA501700540 | KCNJ2 | c.564G>A (p.Lys188=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175603G>C | CA400861025 | KCNJ2 | c.564G>C (p.Lys188Asn) | |
17 | g.70175603G= | CA2272996617 | KCNJ2 | c.564G= (p.Lys188=) | |
17 | g.70175603G>T | CA400861027 | KCNJ2 | c.564G>T (p.Lys188Asn) | gnomAD v4 |
17 | g.70175604A= | CA2272996618 | KCNJ2 | c.565A= (p.Arg189=) | |
17 | g.70175604A>C | CA501700544 | KCNJ2 | c.565A>C (p.Arg189=) | |
17 | g.70175604A>G | CA400861029 | KCNJ2 | c.565A>G (p.Arg189Gly) | ClinVar dbSNP |
17 | g.70175604A>T | CA400861031 | KCNJ2 | c.565A>T (p.Arg189Ter) | |
17 | g.70175605G>A | CA302035 | KCNJ2 | c.566G>A (p.Arg189Lys) | ClinVar dbSNP |
17 | g.70175605G>C | CA400861034 | KCNJ2 | c.566G>C (p.Arg189Thr) | ClinVar dbSNP |
17 | g.70175605G= | CA2272996619 | KCNJ2 | c.566G= (p.Arg189=) | |
17 | g.70175605G>T | CA302038 | KCNJ2 | c.566G>T (p.Arg189Ile) | ClinVar dbSNP |
17 | g.70175606A>C | CA400861038 | KCNJ2 | c.567A>C (p.Arg189Ser) | |
17 | g.70175606A>G | CA501700554 | KCNJ2 | c.567A>G (p.Arg189=) | |
17 | g.70175606A>T | CA400861039 | KCNJ2 | c.567A>T (p.Arg189Ser) | |
17 | g.70175607A>C | CA400861040 | KCNJ2 | c.568A>C (p.Asn190His) | |
17 | g.70175607A>G | CA400861042 | KCNJ2 | c.568A>G (p.Asn190Asp) | |
17 | g.70175607A>T | CA400861043 | KCNJ2 | c.568A>T (p.Asn190Tyr) | |
17 | g.70175608A= | CA2272996620 | KCNJ2 | c.569A= (p.Asn190=) | |
17 | g.70175608A>C | CA400861049 | KCNJ2 | c.569A>C (p.Asn190Thr) | |
17 | g.70175608A>G | CA400861047 | KCNJ2 | c.569A>G (p.Asn190Ser) | |
17 | g.70175608A>T | CA400861045 | KCNJ2 | c.569A>T (p.Asn190Ile) | ClinVar dbSNP |
17 | g.70175609C>A | CA400861051 | KCNJ2 | c.570C>A (p.Asn190Lys) | |
17 | g.70175609C= | CA2272996621 | KCNJ2 | c.570C= (p.Asn190=) | |
17 | g.70175609C>G | CA400861053 | KCNJ2 | c.570C>G (p.Asn190Lys) | |
17 | g.70175609C>T | CA8738744 | KCNJ2 | c.570C>T (p.Asn190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175610G>A | CA400861056 | KCNJ2 | c.571G>A (p.Glu191Lys) | gnomAD v4 |
17 | g.70175610G>C | CA400861058 | KCNJ2 | c.571G>C (p.Glu191Gln) | |
17 | g.70175610G>T | CA400861060 | KCNJ2 | c.571G>T (p.Glu191Ter) | |
17 | g.70175611A>C | CA400861066 | KCNJ2 | c.572A>C (p.Glu191Ala) | |
17 | g.70175611A>G | CA400861062 | KCNJ2 | c.572A>G (p.Glu191Gly) | |
17 | g.70175611A>T | CA400861065 | KCNJ2 | c.572A>T (p.Glu191Val) | |
17 | g.70175612G>A | CA501700567 | KCNJ2 | c.573G>A (p.Glu191=) | |
17 | g.70175612G>C | CA400861069 | KCNJ2 | c.573G>C (p.Glu191Asp) | |
17 | g.70175612G>T | CA400861071 | KCNJ2 | c.573G>T (p.Glu191Asp) | |
17 | g.70175613A= | CA2272996622 | KCNJ2 | c.574A= (p.Thr192=) | |
17 | g.70175613A>C | CA400861073 | KCNJ2 | c.574A>C (p.Thr192Pro) | |
17 | g.70175613A>G | CA329687 | KCNJ2 | c.574A>G (p.Thr192Ala) | ClinVar dbSNP |
17 | g.70175613A>T | CA400861077 | KCNJ2 | c.574A>T (p.Thr192Ser) | |
17 | g.70175614C>A | CA400861083 | KCNJ2 | c.575C>A (p.Thr192Asn) | |
17 | g.70175614C= | CA2272996623 | KCNJ2 | c.575C= (p.Thr192=) | |
17 | g.70175614C>G | CA400861079 | KCNJ2 | c.575C>G (p.Thr192Ser) | |
17 | g.70175614C>T | CA329690 | KCNJ2 | c.575C>T (p.Thr192Ile) | ClinVar dbSNP |
17 | g.70175615T>A | CA501700576 | KCNJ2 | c.576T>A (p.Thr192=) | |
17 | g.70175615T>C | CA501700577 | KCNJ2 | c.576T>C (p.Thr192=) | |
17 | g.70175615T>G | CA501700578 | KCNJ2 | c.576T>G (p.Thr192=) | |
17 | g.70175616C>A | CA400861086 | KCNJ2 | c.577C>A (p.Leu193Ile) | |
17 | g.70175616C>G | CA400861087 | KCNJ2 | c.577C>G (p.Leu193Val) | |
17 | g.70175616C>T | CA400861089 | KCNJ2 | c.577C>T (p.Leu193Phe) | |
17 | g.70175617T>A | CA400861091 | KCNJ2 | c.578T>A (p.Leu193His) | ClinVar dbSNP |
17 | g.70175617T>C | CA400861093 | KCNJ2 | c.578T>C (p.Leu193Pro) | ClinVar dbSNP |
17 | g.70175617T>G | CA400861095 | KCNJ2 | c.578T>G (p.Leu193Arg) | ClinVar |
17 | g.70175617T= | CA2272996624 | KCNJ2 | c.578T= (p.Leu193=) | |
17 | g.70175618T>A | CA501700583 | KCNJ2 | c.579T>A (p.Leu193=) | gnomAD v4 |
17 | g.70175618T>C | CA501700584 | KCNJ2 | c.579T>C (p.Leu193=) | dbSNP |
17 | g.70175618T>G | CA8738745 | KCNJ2 | c.579T>G (p.Leu193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175618T= | CA2272996625 | KCNJ2 | c.579T= (p.Leu193=) | |
17 | g.70175619G>A | CA400861099 | KCNJ2 | c.580G>A (p.Val194Ile) | |
17 | g.70175619G>C | CA400861101 | KCNJ2 | c.580G>C (p.Val194Leu) | |
17 | g.70175619G>T | CA400861103 | KCNJ2 | c.580G>T (p.Val194Phe) | ClinVar |
17 | g.70175620T>A | CA400861105 | KCNJ2 | c.581T>A (p.Val194Asp) | |
17 | g.70175620T>C | CA400861107 | KCNJ2 | c.581T>C (p.Val194Ala) | |
17 | g.70175620T>G | CA400861110 | KCNJ2 | c.581T>G (p.Val194Gly) | |
17 | g.70175621C>A | CA501700591 | KCNJ2 | c.582C>A (p.Val194=) | |
17 | g.70175621C= | CA2272996626 | KCNJ2 | c.582C= (p.Val194=) | |
17 | g.70175621C>G | CA501700593 | KCNJ2 | c.582C>G (p.Val194=) | |
17 | g.70175621C>T | CA501700595 | KCNJ2 | c.582C>T (p.Val194=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175622T>A | CA400861112 | KCNJ2 | c.583T>A (p.Phe195Ile) | |
17 | g.70175622T>C | CA400861115 | KCNJ2 | c.583T>C (p.Phe195Leu) | |
17 | g.70175622T>G | CA400861114 | KCNJ2 | c.583T>G (p.Phe195Val) | |
17 | g.70175623T>A | CA400861119 | KCNJ2 | c.584T>A (p.Phe195Tyr) | |
17 | g.70175623T>C | CA400861121 | KCNJ2 | c.584T>C (p.Phe195Ser) | |
17 | g.70175623T>G | CA400861123 | KCNJ2 | c.584T>G (p.Phe195Cys) | |
17 | g.70175624C>A | CA400861124 | KCNJ2 | c.585C>A (p.Phe195Leu) | |
17 | g.70175624C= | CA2272996627 | KCNJ2 | c.585C= (p.Phe195=) | |
17 | g.70175624C>G | CA400861126 | KCNJ2 | c.585C>G (p.Phe195Leu) | |
17 | g.70175624C>T | CA8738746 | KCNJ2 | c.585C>T (p.Phe195=) | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.70175625A>C | CA400861134 | KCNJ2 | c.586A>C (p.Ser196Arg) | ClinVar |
17 | g.70175625A>G | CA400861129 | KCNJ2 | c.586A>G (p.Ser196Gly) | |
17 | g.70175625A>T | CA400861131 | KCNJ2 | c.586A>T (p.Ser196Cys) | |
17 | g.70175626G>A | CA400861144 | KCNJ2 | c.587G>A (p.Ser196Asn) | |
17 | g.70175626G>C | CA400861145 | KCNJ2 | c.587G>C (p.Ser196Thr) | |
17 | g.70175626G>T | CA400861147 | KCNJ2 | c.587G>T (p.Ser196Ile) | |
17 | g.70175627T>A | CA400861150 | KCNJ2 | c.588T>A (p.Ser196Arg) | |
17 | g.70175627T>C | CA501700604 | KCNJ2 | c.588T>C (p.Ser196=) | |
17 | g.70175627T>G | CA400861152 | KCNJ2 | c.588T>G (p.Ser196Arg) | |
17 | g.70175628C>A | CA400861154 | KCNJ2 | c.589C>A (p.His197Asn) | |
17 | g.70175628C>G | CA400861157 | KCNJ2 | c.589C>G (p.His197Asp) | |
17 | g.70175628C>T | CA400861155 | KCNJ2 | c.589C>T (p.His197Tyr) | |
17 | g.70175629A>C | CA400861159 | KCNJ2 | c.590A>C (p.His197Pro) | |
17 | g.70175629A>G | CA400861161 | KCNJ2 | c.590A>G (p.His197Arg) | |
17 | g.70175629A>T | CA400861162 | KCNJ2 | c.590A>T (p.His197Leu) | |
17 | g.70175630C>A | CA400861164 | KCNJ2 | c.591C>A (p.His197Gln) | |
17 | g.70175630C= | CA2272996628 | KCNJ2 | c.591C= (p.His197=) | |
17 | g.70175630C>G | CA400861165 | KCNJ2 | c.591C>G (p.His197Gln) | |
17 | g.70175630C>T | CA501700616 | KCNJ2 | c.591C>T (p.His197=) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.70175631A>C | CA400861167 | KCNJ2 | c.592A>C (p.Asn198His) | |
17 | g.70175631A>G | CA400861169 | KCNJ2 | c.592A>G (p.Asn198Asp) | |
17 | g.70175631A>T | CA400861170 | KCNJ2 | c.592A>T (p.Asn198Tyr) | |
17 | g.70175632A>C | CA400861172 | KCNJ2 | c.593A>C (p.Asn198Thr) | |
17 | g.70175632A>G | CA400861173 | KCNJ2 | c.593A>G (p.Asn198Ser) | |
17 | g.70175632A>T | CA400861174 | KCNJ2 | c.593A>T (p.Asn198Ile) | |
17 | g.70175633T>A | CA400861176 | KCNJ2 | c.594T>A (p.Asn198Lys) | |
17 | g.70175633T>C | CA501700624 | KCNJ2 | c.594T>C (p.Asn198=) | |
17 | g.70175633T>G | CA400861178 | KCNJ2 | c.594T>G (p.Asn198Lys) | |
17 | g.70175634G>A | CA400861180 | KCNJ2 | c.595G>A (p.Ala199Thr) | |
17 | g.70175634G>C | CA400861184 | KCNJ2 | c.595G>C (p.Ala199Pro) | |
17 | g.70175634G>T | CA400861182 | KCNJ2 | c.595G>T (p.Ala199Ser) | |
17 | g.70175635C>A | CA400861186 | KCNJ2 | c.596C>A (p.Ala199Asp) | |
17 | g.70175635C>G | CA400861188 | KCNJ2 | c.596C>G (p.Ala199Gly) | |
17 | g.70175635C>T | CA400861190 | KCNJ2 | c.596C>T (p.Ala199Val) | COSMIC |
17 | g.70175636C>A | CA501700633 | KCNJ2 | c.597C>A (p.Ala199=) | ClinVar dbSNP |
17 | g.70175636C= | CA2272996629 | KCNJ2 | c.597C= (p.Ala199=) | |
17 | g.70175636C>G | CA501700634 | KCNJ2 | c.597C>G (p.Ala199=) | gnomAD v4 |
17 | g.70175636C>T | CA8738747 | KCNJ2 | c.597C>T (p.Ala199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175637G>A | CA400861194 | KCNJ2 | c.598G>A (p.Val200Met) | ClinVar gnomAD v4 |
17 | g.70175637G>C | CA400861196 | KCNJ2 | c.598G>C (p.Val200Leu) | |
17 | g.70175637G>T | CA400861198 | KCNJ2 | c.598G>T (p.Val200Leu) | |
17 | g.70175638T>A | CA400861201 | KCNJ2 | c.599T>A (p.Val200Glu) | |
17 | g.70175638T>C | CA400861204 | KCNJ2 | c.599T>C (p.Val200Ala) | |
17 | g.70175638T>G | CA400861203 | KCNJ2 | c.599T>G (p.Val200Gly) | |
17 | g.70175639G>A | CA501700638 | KCNJ2 | c.600G>A (p.Val200=) | |
17 | g.70175639G>C | CA501700639 | KCNJ2 | c.600G>C (p.Val200=) | |
17 | g.70175639G= | CA2272996630 | KCNJ2 | c.600G= (p.Val200=) | |
17 | g.70175639G>T | CA8738748 | KCNJ2 | c.600G>T (p.Val200=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175640A>C | CA400861206 | KCNJ2 | c.601A>C (p.Ile201Leu) | |
17 | g.70175640A>G | CA400861208 | KCNJ2 | c.601A>G (p.Ile201Val) | |
17 | g.70175640A>T | CA400861210 | KCNJ2 | c.601A>T (p.Ile201Phe) | |
17 | g.70175641T>A | CA400861216 | KCNJ2 | c.602T>A (p.Ile201Asn) | |
17 | g.70175641T>C | CA293702919 | KCNJ2 | c.602T>C (p.Ile201Thr) | dbSNP gnomAD v4 |
17 | g.70175641T>G | CA400861214 | KCNJ2 | c.602T>G (p.Ile201Ser) | |
17 | g.70175641T= | CA2272996631 | KCNJ2 | c.602T= (p.Ile201=) | |
17 | g.70175642T>A | CA501700646 | KCNJ2 | c.603T>A (p.Ile201=) | |
17 | g.70175642T>C | CA501700651 | KCNJ2 | c.603T>C (p.Ile201=) | |
17 | g.70175642T>G | CA400861219 | KCNJ2 | c.603T>G (p.Ile201Met) | |
17 | g.70175643G>A | CA8738749 | KCNJ2 | c.604G>A (p.Ala202Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175643G>C | CA400861223 | KCNJ2 | c.604G>C (p.Ala202Pro) | |
17 | g.70175643G= | CA2272996632 | KCNJ2 | c.604G= (p.Ala202=) | |
17 | g.70175643G>T | CA400861225 | KCNJ2 | c.604G>T (p.Ala202Ser) | |
17 | g.70175644C>A | CA400861226 | KCNJ2 | c.605C>A (p.Ala202Asp) | |
17 | g.70175644C>G | CA400861228 | KCNJ2 | c.605C>G (p.Ala202Gly) | |
17 | g.70175644C>T | CA400861230 | KCNJ2 | c.605C>T (p.Ala202Val) | |
17 | g.70175645C>A | CA501700654 | KCNJ2 | c.606C>A (p.Ala202=) | |
17 | g.70175645C>G | CA501700657 | KCNJ2 | c.606C>G (p.Ala202=) | |
17 | g.70175645C>T | CA501700659 | KCNJ2 | c.606C>T (p.Ala202=) | |
17 | g.70175646A>C | CA400861233 | KCNJ2 | c.607A>C (p.Met203Leu) | |
17 | g.70175646A>G | CA400861234 | KCNJ2 | c.607A>G (p.Met203Val) | |
17 | g.70175646A>T | CA400861236 | KCNJ2 | c.607A>T (p.Met203Leu) | |
17 | g.70175647T>A | CA400861239 | KCNJ2 | c.608T>A (p.Met203Lys) | |
17 | g.70175647T>C | CA400861240 | KCNJ2 | c.608T>C (p.Met203Thr) | ClinVar dbSNP gnomAD v4 |
17 | g.70175647T>G | CA400861242 | KCNJ2 | c.608T>G (p.Met203Arg) | |
17 | g.70175647T= | CA2272996633 | KCNJ2 | c.608T= (p.Met203=) | |
17 | g.70175648G>A | CA400861250 | KCNJ2 | c.609G>A (p.Met203Ile) | |
17 | g.70175648G>C | CA400861245 | KCNJ2 | c.609G>C (p.Met203Ile) | |
17 | g.70175648G>T | CA400861248 | KCNJ2 | c.609G>T (p.Met203Ile) | |
17 | g.70175649A>C | CA501700668 | KCNJ2 | c.610A>C (p.Arg204=) | |
17 | g.70175649A>G | CA400861254 | KCNJ2 | c.610A>G (p.Arg204Gly) | |
17 | g.70175649A>T | CA400861256 | KCNJ2 | c.610A>T (p.Arg204Ter) | |
17 | g.70175650G>A | CA400861260 | KCNJ2 | c.611G>A (p.Arg204Lys) | |
17 | g.70175650G>C | CA400861262 | KCNJ2 | c.611G>C (p.Arg204Thr) | |
17 | g.70175650G>T | CA400861265 | KCNJ2 | c.611G>T (p.Arg204Ile) | |
17 | g.70175651A>C | CA400861268 | KCNJ2 | c.612A>C (p.Arg204Ser) | |
17 | g.70175651A>G | CA501700672 | KCNJ2 | c.612A>G (p.Arg204=) | |
17 | g.70175651A>T | CA400861269 | KCNJ2 | c.612A>T (p.Arg204Ser) | |
17 | g.70175652G>A | CA400861271 | KCNJ2 | c.613G>A (p.Asp205Asn) | |
17 | g.70175652G>C | CA400861274 | KCNJ2 | c.613G>C (p.Asp205His) | |
17 | g.70175652G>T | CA400861277 | KCNJ2 | c.613G>T (p.Asp205Tyr) | |
17 | g.70175653A= | CA2272996634 | KCNJ2 | c.614A= (p.Asp205=) | |
17 | g.70175653A>C | CA400861280 | KCNJ2 | c.614A>C (p.Asp205Ala) | |
17 | g.70175653A>G | CA400861282 | KCNJ2 | c.614A>G (p.Asp205Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175653A>T | CA400861283 | KCNJ2 | c.614A>T (p.Asp205Val) | |
17 | g.70175654C>A | CA400861290 | KCNJ2 | c.615C>A (p.Asp205Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175654C= | CA2272996635 | KCNJ2 | c.615C= (p.Asp205=) | |
17 | g.70175654C>G | CA400861285 | KCNJ2 | c.615C>G (p.Asp205Glu) | COSMIC |
17 | g.70175654C>T | CA8738750 | KCNJ2 | c.615C>T (p.Asp205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175655G>A | CA8738751 | KCNJ2 | c.616G>A (p.Gly206Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175655G>C | CA293702920 | KCNJ2 | c.616G>C (p.Gly206Arg) | dbSNP gnomAD v4 |
17 | g.70175655G= | CA2272996636 | KCNJ2 | c.616G= (p.Gly206=) | |
17 | g.70175655G>T | CA400861297 | KCNJ2 | c.616G>T (p.Gly206Cys) | |
17 | g.70175656G>A | CA293702921 | KCNJ2 | c.617G>A (p.Gly206Asp) | ClinVar dbSNP |
17 | g.70175656G>C | CA400861300 | KCNJ2 | c.617G>C (p.Gly206Ala) | |
17 | g.70175656G= | CA2272996637 | KCNJ2 | c.617G= (p.Gly206=) | |
17 | g.70175656G>T | CA400861303 | KCNJ2 | c.617G>T (p.Gly206Val) | COSMIC |
17 | g.70175657C>A | CA501700687 | KCNJ2 | c.618C>A (p.Gly206=) | COSMIC |
17 | g.70175657C>G | CA501700688 | KCNJ2 | c.618C>G (p.Gly206=) | |
17 | g.70175657C>T | CA501700690 | KCNJ2 | c.618C>T (p.Gly206=) | |
17 | g.70175658A>C | CA400861307 | KCNJ2 | c.619A>C (p.Lys207Gln) | gnomAD v4 |
17 | g.70175658A>G | CA400861308 | KCNJ2 | c.619A>G (p.Lys207Glu) | |
17 | g.70175658A>T | CA400861310 | KCNJ2 | c.619A>T (p.Lys207Ter) | |
17 | g.70175659A>C | CA400861313 | KCNJ2 | c.620A>C (p.Lys207Thr) | |
17 | g.70175659A>G | CA400861316 | KCNJ2 | c.620A>G (p.Lys207Arg) | gnomAD v4 |
17 | g.70175659A>T | CA400861318 | KCNJ2 | c.620A>T (p.Lys207Met) | |
17 | g.70175660G>A | CA8738752 | KCNJ2 | c.621G>A (p.Lys207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175660G>C | CA400861323 | KCNJ2 | c.621G>C (p.Lys207Asn) | |
17 | g.70175660G= | CA2272996638 | KCNJ2 | c.621G= (p.Lys207=) | |
17 | g.70175660G>T | CA400861321 | KCNJ2 | c.621G>T (p.Lys207Asn) | |
17 | g.70175661C>A | CA400861326 | KCNJ2 | c.622C>A (p.Leu208Met) | dbSNP |
17 | g.70175661C= | CA2272996639 | KCNJ2 | c.622C= (p.Leu208=) | |
17 | g.70175661C>G | CA400861328 | KCNJ2 | c.622C>G (p.Leu208Val) | |
17 | g.70175661C>T | CA501700696 | KCNJ2 | c.622C>T (p.Leu208=) | |
17 | g.70175662T>A | CA400861331 | KCNJ2 | c.623T>A (p.Leu208Gln) | |
17 | g.70175662T>C | CA400861333 | KCNJ2 | c.623T>C (p.Leu208Pro) | gnomAD v4 |
17 | g.70175662T>G | CA400861336 | KCNJ2 | c.623T>G (p.Leu208Arg) | |
17 | g.70175663G>A | CA501700703 | KCNJ2 | c.624G>A (p.Leu208=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175663G>C | CA501700705 | KCNJ2 | c.624G>C (p.Leu208=) | |
17 | g.70175663G= | CA2272996640 | KCNJ2 | c.624G= (p.Leu208=) | |
17 | g.70175663G>T | CA501700706 | KCNJ2 | c.624G>T (p.Leu208=) | |
17 | g.70175664T>A | CA400861339 | KCNJ2 | c.625T>A (p.Cys209Ser) | |
17 | g.70175664T>C | CA400861341 | KCNJ2 | c.625T>C (p.Cys209Arg) | gnomAD v4 |
17 | g.70175664T>G | CA400861343 | KCNJ2 | c.625T>G (p.Cys209Gly) | |
17 | g.70175665G>A | CA400861345 | KCNJ2 | c.626G>A (p.Cys209Tyr) | |
17 | g.70175665G>C | CA400861349 | KCNJ2 | c.626G>C (p.Cys209Ser) | |
17 | g.70175665G>T | CA400861347 | KCNJ2 | c.626G>T (p.Cys209Phe) | |
17 | g.70175666T>A | CA400861351 | KCNJ2 | c.627T>A (p.Cys209Ter) | |
17 | g.70175666T>C | CA501700714 | KCNJ2 | c.627T>C (p.Cys209=) | gnomAD v4 |
17 | g.70175666T>G | CA400861352 | KCNJ2 | c.627T>G (p.Cys209Trp) | |
17 | g.70175667T>A | CA400861356 | KCNJ2 | c.628T>A (p.Leu210Met) | |
17 | g.70175667T>C | CA501700720 | KCNJ2 | c.628T>C (p.Leu210=) | dbSNP |
17 | g.70175667T>G | CA400861357 | KCNJ2 | c.628T>G (p.Leu210Val) | |
17 | g.70175667T= | CA2272996641 | KCNJ2 | c.628T= (p.Leu210=) | |
17 | g.70175668T>A | CA400861360 | KCNJ2 | c.629T>A (p.Leu210Ter) | |
17 | g.70175668T>C | CA400861364 | KCNJ2 | c.629T>C (p.Leu210Ser) | |
17 | g.70175668T>G | CA400861362 | KCNJ2 | c.629T>G (p.Leu210Trp) | |
17 | g.70175669G>A | CA501700722 | KCNJ2 | c.630G>A (p.Leu210=) | gnomAD v4 |
17 | g.70175669G>C | CA400861366 | KCNJ2 | c.630G>C (p.Leu210Phe) | |
17 | g.70175669G>T | CA400861368 | KCNJ2 | c.630G>T (p.Leu210Phe) | |
17 | g.70175670A>C | CA400861371 | KCNJ2 | c.631A>C (p.Met211Leu) | |
17 | g.70175670A>G | CA400861372 | KCNJ2 | c.631A>G (p.Met211Val) | |
17 | g.70175670A>T | CA400861374 | KCNJ2 | c.631A>T (p.Met211Leu) | |
17 | g.70175671T>A | CA400861376 | KCNJ2 | c.632T>A (p.Met211Lys) | |
17 | g.70175671T>C | CA400861378 | KCNJ2 | c.632T>C (p.Met211Thr) | |
17 | g.70175671T>G | CA400861379 | KCNJ2 | c.632T>G (p.Met211Arg) | |
17 | g.70175672G>A | CA400861381 | KCNJ2 | c.633G>A (p.Met211Ile) | ClinVar |
17 | g.70175672G>C | CA400861383 | KCNJ2 | c.633G>C (p.Met211Ile) | |
17 | g.70175672G>T | CA400861384 | KCNJ2 | c.633G>T (p.Met211Ile) | |
17 | g.70175673T>A | CA400861387 | KCNJ2 | c.634T>A (p.Trp212Arg) | |
17 | g.70175673T>C | CA400861391 | KCNJ2 | c.634T>C (p.Trp212Arg) | |
17 | g.70175673T>G | CA400861389 | KCNJ2 | c.634T>G (p.Trp212Gly) | |
17 | g.70175674_70175675insTTTG | CA2810293657 | KCNJ2 | c.635_636insTTTG (p.Trp212CysfsTer29) | |
17 | g.70175674G>A | CA400861393 | KCNJ2 | c.635G>A (p.Trp212Ter) | |
17 | g.70175674G>C | CA400861395 | KCNJ2 | c.635G>C (p.Trp212Ser) | |
17 | g.70175674G>T | CA400861396 | KCNJ2 | c.635G>T (p.Trp212Leu) | |
17 | g.70175674_70175675insTTTGGG | CA2810293658 | KCNJ2 | c.635_636insTTTGGG (p.Trp212delinsCysLeuGly) | |
17 | g.70175675G>A | CA400861398 | KCNJ2 | c.636G>A (p.Trp212Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.70175675G>C | CA400861400 | KCNJ2 | c.636G>C (p.Trp212Cys) | |
17 | g.70175675G>T | CA400861402 | KCNJ2 | c.636G>T (p.Trp212Cys) | gnomAD v4 |
17 | g.70175676C>A | CA501700742 | KCNJ2 | c.637C>A (p.Arg213=) | |
17 | g.70175676C= | CA2272996642 | KCNJ2 | c.637C= (p.Arg213=) | |
17 | g.70175676C>G | CA400861405 | KCNJ2 | c.637C>G (p.Arg213Gly) | ClinVar dbSNP |
17 | g.70175676C>T | CA8738753 | KCNJ2 | c.637C>T (p.Arg213Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175677G>A | CA400861416 | KCNJ2 | c.638G>A (p.Arg213Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175677G>C | CA400861418 | KCNJ2 | c.638G>C (p.Arg213Pro) | gnomAD v4 |
17 | g.70175677G= | CA2272996643 | KCNJ2 | c.638G= (p.Arg213=) | |
17 | g.70175677G>T | CA400861420 | KCNJ2 | c.638G>T (p.Arg213Leu) | |
17 | g.70175678A= | CA2272996644 | KCNJ2 | c.639A= (p.Arg213=) | |
17 | g.70175678A>C | CA501700745 | KCNJ2 | c.639A>C (p.Arg213=) | |
17 | g.70175678A>G | CA501700747 | KCNJ2 | c.639A>G (p.Arg213=) | |
17 | g.70175678A>T | CA501700749 | KCNJ2 | c.639A>T (p.Arg213=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175679G>A | CA400861425 | KCNJ2 | c.640G>A (p.Val214Met) | |
17 | g.70175679G>C | CA400861423 | KCNJ2 | c.640G>C (p.Val214Leu) | |
17 | g.70175679G>T | CA400861422 | KCNJ2 | c.640G>T (p.Val214Leu) | COSMIC |