Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.123325327_123325357delCA2667293683ADCY5c.732_762del (p.Gly245TrpfsTer?)
c.1020_1050del (p.Gly341TrpfsTer?)
c.2055_2085del (p.Gly686TrpfsTer?)
n.314_344del
c.1005_1035del (p.Gly336TrpfsTer?)
c.954_984del (p.Gly319TrpfsTer?)
c.1056_1086del (p.Gly353TrpfsTer?)
c.966_996del (p.Gly323TrpfsTer?)
c.957_987del (p.Gly320TrpfsTer?)
 gnomAD v4
3g.123325335T>ACA354218297ADCY5c.752A>T (p.Glu251Val)
c.1040A>T (p.Glu347Val)
c.2075A>T (p.Glu692Val)
n.334A>T
c.1025A>T (p.Glu342Val)
c.974A>T (p.Glu325Val)
c.1076A>T (p.Glu359Val)
c.986A>T (p.Glu329Val)
c.977A>T (p.Glu326Val)
3g.123325335T>CCA354218299ADCY5c.752A>G (p.Glu251Gly)
c.1040A>G (p.Glu347Gly)
c.2075A>G (p.Glu692Gly)
n.334A>G
c.1025A>G (p.Glu342Gly)
c.974A>G (p.Glu325Gly)
c.1076A>G (p.Glu359Gly)
c.986A>G (p.Glu329Gly)
c.977A>G (p.Glu326Gly)
 dbSNP gnomAD v2
3g.123325335T>GCA354218301ADCY5c.752A>C (p.Glu251Ala)
c.1040A>C (p.Glu347Ala)
c.2075A>C (p.Glu692Ala)
n.334A>C
c.1025A>C (p.Glu342Ala)
c.974A>C (p.Glu325Ala)
c.1076A>C (p.Glu359Ala)
c.986A>C (p.Glu329Ala)
c.977A>C (p.Glu326Ala)
3g.123325335T=CA1398346229ADCY5c.752A= (p.Glu251=)
c.1040A= (p.Glu347=)
c.2075A= (p.Glu692=)
n.334A=
c.1025A= (p.Glu342=)
c.974A= (p.Glu325=)
c.1076A= (p.Glu359=)
c.986A= (p.Glu329=)
c.977A= (p.Glu326=)
3g.123325336C>ACA354218307ADCY5c.751G>T (p.Glu251Ter)
c.1039G>T (p.Glu347Ter)
c.2074G>T (p.Glu692Ter)
n.333G>T
c.1024G>T (p.Glu342Ter)
c.973G>T (p.Glu325Ter)
c.1075G>T (p.Glu359Ter)
c.985G>T (p.Glu329Ter)
c.976G>T (p.Glu326Ter)
 dbSNP
3g.123325336C=CA1398346230ADCY5c.751G= (p.Glu251=)
c.1039G= (p.Glu347=)
c.2074G= (p.Glu692=)
n.333G=
c.1024G= (p.Glu342=)
c.973G= (p.Glu325=)
c.1075G= (p.Glu359=)
c.985G= (p.Glu329=)
c.976G= (p.Glu326=)
3g.123325336C>GCA354218303ADCY5c.751G>C (p.Glu251Gln)
c.1039G>C (p.Glu347Gln)
c.2074G>C (p.Glu692Gln)
n.333G>C
c.1024G>C (p.Glu342Gln)
c.973G>C (p.Glu325Gln)
c.1075G>C (p.Glu359Gln)
c.985G>C (p.Glu329Gln)
c.976G>C (p.Glu326Gln)
3g.123325336C>TCA354218305ADCY5c.751G>A (p.Glu251Lys)
c.1039G>A (p.Glu347Lys)
c.2074G>A (p.Glu692Lys)
n.333G>A
c.1024G>A (p.Glu342Lys)
c.973G>A (p.Glu325Lys)
c.1075G>A (p.Glu359Lys)
c.985G>A (p.Glu329Lys)
c.976G>A (p.Glu326Lys)
 ClinVar dbSNP
3g.123325337C>ACA354218310ADCY5c.750G>T (p.Lys250Asn)
c.1038G>T (p.Lys346Asn)
c.2073G>T (p.Lys691Asn)
n.332G>T
c.1023G>T (p.Lys341Asn)
c.972G>T (p.Lys324Asn)
c.1074G>T (p.Lys358Asn)
c.984G>T (p.Lys328Asn)
c.975G>T (p.Lys325Asn)
 ClinVar dbSNP
3g.123325337C=CA1398346231ADCY5c.750G= (p.Lys250=)
c.1038G= (p.Lys346=)
c.2073G= (p.Lys691=)
n.332G=
c.1023G= (p.Lys341=)
c.972G= (p.Lys324=)
c.1074G= (p.Lys358=)
c.984G= (p.Lys328=)
c.975G= (p.Lys325=)
3g.123325337C>GCA354218312ADCY5c.750G>C (p.Lys250Asn)
c.1038G>C (p.Lys346Asn)
c.2073G>C (p.Lys691Asn)
n.332G>C
c.1023G>C (p.Lys341Asn)
c.972G>C (p.Lys324Asn)
c.1074G>C (p.Lys358Asn)
c.984G>C (p.Lys328Asn)
c.975G>C (p.Lys325Asn)
3g.123325337C>TCA435293328ADCY5c.750G>A (p.Lys250=)
c.1038G>A (p.Lys346=)
c.2073G>A (p.Lys691=)
n.332G>A
c.1023G>A (p.Lys341=)
c.972G>A (p.Lys324=)
c.1074G>A (p.Lys358=)
c.984G>A (p.Lys328=)
c.975G>A (p.Lys325=)
 gnomAD v4 COSMIC
3g.123325338T>ACA354218313ADCY5c.749A>T (p.Lys250Met)
c.1037A>T (p.Lys346Met)
c.2072A>T (p.Lys691Met)
n.331A>T
c.1022A>T (p.Lys341Met)
c.971A>T (p.Lys324Met)
c.1073A>T (p.Lys358Met)
c.983A>T (p.Lys328Met)
c.974A>T (p.Lys325Met)
 ClinVar dbSNP
3g.123325338T>CCA354218315ADCY5c.749A>G (p.Lys250Arg)
c.1037A>G (p.Lys346Arg)
c.2072A>G (p.Lys691Arg)
n.331A>G
c.1022A>G (p.Lys341Arg)
c.971A>G (p.Lys324Arg)
c.1073A>G (p.Lys358Arg)
c.983A>G (p.Lys328Arg)
c.974A>G (p.Lys325Arg)
 dbSNP
3g.123325338T>GCA354218317ADCY5c.749A>C (p.Lys250Thr)
c.1037A>C (p.Lys346Thr)
c.2072A>C (p.Lys691Thr)
n.331A>C
c.1022A>C (p.Lys341Thr)
c.971A>C (p.Lys324Thr)
c.1073A>C (p.Lys358Thr)
c.983A>C (p.Lys328Thr)
c.974A>C (p.Lys325Thr)
3g.123325338T=CA1398346232ADCY5c.749A= (p.Lys250=)
c.1037A= (p.Lys346=)
c.2072A= (p.Lys691=)
n.331A=
c.1022A= (p.Lys341=)
c.971A= (p.Lys324=)
c.1073A= (p.Lys358=)
c.983A= (p.Lys328=)
c.974A= (p.Lys325=)
3g.123325339T>ACA354218319ADCY5c.748A>T (p.Lys250Ter)
c.1036A>T (p.Lys346Ter)
c.2071A>T (p.Lys691Ter)
n.330A>T
c.1021A>T (p.Lys341Ter)
c.970A>T (p.Lys324Ter)
c.1072A>T (p.Lys358Ter)
c.982A>T (p.Lys328Ter)
c.973A>T (p.Lys325Ter)
 dbSNP
3g.123325339T>CCA354218320ADCY5c.748A>G (p.Lys250Glu)
c.1036A>G (p.Lys346Glu)
c.2071A>G (p.Lys691Glu)
n.330A>G
c.1021A>G (p.Lys341Glu)
c.970A>G (p.Lys324Glu)
c.1072A>G (p.Lys358Glu)
c.982A>G (p.Lys328Glu)
c.973A>G (p.Lys325Glu)
 ClinVar dbSNP
3g.123325339T>GCA354218322ADCY5c.748A>C (p.Lys250Gln)
c.1036A>C (p.Lys346Gln)
c.2071A>C (p.Lys691Gln)
n.330A>C
c.1021A>C (p.Lys341Gln)
c.970A>C (p.Lys324Gln)
c.1072A>C (p.Lys358Gln)
c.982A>C (p.Lys328Gln)
c.973A>C (p.Lys325Gln)
3g.123325339T=CA1398346233ADCY5c.748A= (p.Lys250=)
c.1036A= (p.Lys346=)
c.2071A= (p.Lys691=)
n.330A=
c.1021A= (p.Lys341=)
c.970A= (p.Lys324=)
c.1072A= (p.Lys358=)
c.982A= (p.Lys328=)
c.973A= (p.Lys325=)
3g.123325340G>ACA435293329ADCY5c.747C>T (p.Ser249=)
c.1035C>T (p.Ser345=)
c.2070C>T (p.Ser690=)
n.329C>T
c.1020C>T (p.Ser340=)
c.969C>T (p.Ser323=)
c.1071C>T (p.Ser357=)
c.981C>T (p.Ser327=)
c.972C>T (p.Ser324=)
 ClinVar
3g.123325340G>CCA435293330ADCY5c.747C>G (p.Ser249=)
c.1035C>G (p.Ser345=)
c.2070C>G (p.Ser690=)
n.329C>G
c.1020C>G (p.Ser340=)
c.969C>G (p.Ser323=)
c.1071C>G (p.Ser357=)
c.981C>G (p.Ser327=)
c.972C>G (p.Ser324=)
3g.123325340G>TCA435293331ADCY5c.747C>A (p.Ser249=)
c.1035C>A (p.Ser345=)
c.2070C>A (p.Ser690=)
n.329C>A
c.1020C>A (p.Ser340=)
c.969C>A (p.Ser323=)
c.1071C>A (p.Ser357=)
c.981C>A (p.Ser327=)
c.972C>A (p.Ser324=)
3g.123325341G>ACA354218324ADCY5c.746C>T (p.Ser249Phe)
c.1034C>T (p.Ser345Phe)
c.2069C>T (p.Ser690Phe)
n.328C>T
c.1019C>T (p.Ser340Phe)
c.968C>T (p.Ser323Phe)
c.1070C>T (p.Ser357Phe)
c.980C>T (p.Ser327Phe)
c.971C>T (p.Ser324Phe)
3g.123325341G>CCA354218326ADCY5c.746C>G (p.Ser249Cys)
c.1034C>G (p.Ser345Cys)
c.2069C>G (p.Ser690Cys)
n.328C>G
c.1019C>G (p.Ser340Cys)
c.968C>G (p.Ser323Cys)
c.1070C>G (p.Ser357Cys)
c.980C>G (p.Ser327Cys)
c.971C>G (p.Ser324Cys)
3g.123325341G>TCA354218328ADCY5c.746C>A (p.Ser249Tyr)
c.1034C>A (p.Ser345Tyr)
c.2069C>A (p.Ser690Tyr)
n.328C>A
c.1019C>A (p.Ser340Tyr)
c.968C>A (p.Ser323Tyr)
c.1070C>A (p.Ser357Tyr)
c.980C>A (p.Ser327Tyr)
c.971C>A (p.Ser324Tyr)
3g.123325342A>CCA354218333ADCY5c.745T>G (p.Ser249Ala)
c.1033T>G (p.Ser345Ala)
c.2068T>G (p.Ser690Ala)
n.327T>G
c.1018T>G (p.Ser340Ala)
c.967T>G (p.Ser323Ala)
c.1069T>G (p.Ser357Ala)
c.979T>G (p.Ser327Ala)
c.970T>G (p.Ser324Ala)
3g.123325342A>GCA354218331ADCY5c.745T>C (p.Ser249Pro)
c.1033T>C (p.Ser345Pro)
c.2068T>C (p.Ser690Pro)
n.327T>C
c.1018T>C (p.Ser340Pro)
c.967T>C (p.Ser323Pro)
c.1069T>C (p.Ser357Pro)
c.979T>C (p.Ser327Pro)
c.970T>C (p.Ser324Pro)
 gnomAD v4
3g.123325342A>TCA354218329ADCY5c.745T>A (p.Ser249Thr)
c.1033T>A (p.Ser345Thr)
c.2068T>A (p.Ser690Thr)
n.327T>A
c.1018T>A (p.Ser340Thr)
c.967T>A (p.Ser323Thr)
c.1069T>A (p.Ser357Thr)
c.979T>A (p.Ser327Thr)
c.970T>A (p.Ser324Thr)
3g.123325343C>ACA435293332ADCY5c.744G>T (p.Val248=)
c.1032G>T (p.Val344=)
c.2067G>T (p.Val689=)
n.326G>T
c.1017G>T (p.Val339=)
c.966G>T (p.Val322=)
c.1068G>T (p.Val356=)
c.978G>T (p.Val326=)
c.969G>T (p.Val323=)
3g.123325343C>GCA435293333ADCY5c.744G>C (p.Val248=)
c.1032G>C (p.Val344=)
c.2067G>C (p.Val689=)
n.326G>C
c.1017G>C (p.Val339=)
c.966G>C (p.Val322=)
c.1068G>C (p.Val356=)
c.978G>C (p.Val326=)
c.969G>C (p.Val323=)
3g.123325343C>TCA435293334ADCY5c.744G>A (p.Val248=)
c.1032G>A (p.Val344=)
c.2067G>A (p.Val689=)
n.326G>A
c.1017G>A (p.Val339=)
c.966G>A (p.Val322=)
c.1068G>A (p.Val356=)
c.978G>A (p.Val326=)
c.969G>A (p.Val323=)
 gnomAD v4
3g.123325344A>CCA354218340ADCY5c.743T>G (p.Val248Gly)
c.1031T>G (p.Val344Gly)
c.2066T>G (p.Val689Gly)
n.325T>G
c.1016T>G (p.Val339Gly)
c.965T>G (p.Val322Gly)
c.1067T>G (p.Val356Gly)
c.977T>G (p.Val326Gly)
c.968T>G (p.Val323Gly)
3g.123325344A>GCA354218335ADCY5c.743T>C (p.Val248Ala)
c.1031T>C (p.Val344Ala)
c.2066T>C (p.Val689Ala)
n.325T>C
c.1016T>C (p.Val339Ala)
c.965T>C (p.Val322Ala)
c.1067T>C (p.Val356Ala)
c.977T>C (p.Val326Ala)
c.968T>C (p.Val323Ala)
3g.123325344A>TCA354218338ADCY5c.743T>A (p.Val248Glu)
c.1031T>A (p.Val344Glu)
c.2066T>A (p.Val689Glu)
n.325T>A
c.1016T>A (p.Val339Glu)
c.965T>A (p.Val322Glu)
c.1067T>A (p.Val356Glu)
c.977T>A (p.Val326Glu)
c.968T>A (p.Val323Glu)
3g.123325345C>ACA354218341ADCY5c.742G>T (p.Val248Leu)
c.1030G>T (p.Val344Leu)
c.2065G>T (p.Val689Leu)
n.324G>T
c.1015G>T (p.Val339Leu)
c.964G>T (p.Val322Leu)
c.1066G>T (p.Val356Leu)
c.976G>T (p.Val326Leu)
c.967G>T (p.Val323Leu)
3g.123325345C=CA1398346234ADCY5c.742G= (p.Val248=)
c.1030G= (p.Val344=)
c.2065G= (p.Val689=)
n.324G=
c.1015G= (p.Val339=)
c.964G= (p.Val322=)
c.1066G= (p.Val356=)
c.976G= (p.Val326=)
c.967G= (p.Val323=)
3g.123325345C>GCA354218342ADCY5c.742G>C (p.Val248Leu)
c.1030G>C (p.Val344Leu)
c.2065G>C (p.Val689Leu)
n.324G>C
c.1015G>C (p.Val339Leu)
c.964G>C (p.Val322Leu)
c.1066G>C (p.Val356Leu)
c.976G>C (p.Val326Leu)
c.967G>C (p.Val323Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.123325345C>TCA354218344ADCY5c.742G>A (p.Val248Met)
c.1030G>A (p.Val344Met)
c.2065G>A (p.Val689Met)
n.324G>A
c.1015G>A (p.Val339Met)
c.964G>A (p.Val322Met)
c.1066G>A (p.Val356Met)
c.976G>A (p.Val326Met)
c.967G>A (p.Val323Met)
3g.123325346C>ACA354218347ADCY5c.741G>T (p.Gln247His)
c.1029G>T (p.Gln343His)
c.2064G>T (p.Gln688His)
n.323G>T
c.1014G>T (p.Gln338His)
c.963G>T (p.Gln321His)
c.1065G>T (p.Gln355His)
c.975G>T (p.Gln325His)
c.966G>T (p.Gln322His)
3g.123325346C>GCA354218348ADCY5c.741G>C (p.Gln247His)
c.1029G>C (p.Gln343His)
c.2064G>C (p.Gln688His)
n.323G>C
c.1014G>C (p.Gln338His)
c.963G>C (p.Gln321His)
c.1065G>C (p.Gln355His)
c.975G>C (p.Gln325His)
c.966G>C (p.Gln322His)
3g.123325346C>TCA435293335ADCY5c.741G>A (p.Gln247=)
c.1029G>A (p.Gln343=)
c.2064G>A (p.Gln688=)
n.323G>A
c.1014G>A (p.Gln338=)
c.963G>A (p.Gln321=)
c.1065G>A (p.Gln355=)
c.975G>A (p.Gln325=)
c.966G>A (p.Gln322=)
3g.123325347T>ACA354218351ADCY5c.740A>T (p.Gln247Leu)
c.1028A>T (p.Gln343Leu)
c.2063A>T (p.Gln688Leu)
n.322A>T
c.1013A>T (p.Gln338Leu)
c.962A>T (p.Gln321Leu)
c.1064A>T (p.Gln355Leu)
c.974A>T (p.Gln325Leu)
c.965A>T (p.Gln322Leu)
3g.123325347T>CCA354218353ADCY5c.740A>G (p.Gln247Arg)
c.1028A>G (p.Gln343Arg)
c.2063A>G (p.Gln688Arg)
n.322A>G
c.1013A>G (p.Gln338Arg)
c.962A>G (p.Gln321Arg)
c.1064A>G (p.Gln355Arg)
c.974A>G (p.Gln325Arg)
c.965A>G (p.Gln322Arg)
3g.123325347T>GCA354218354ADCY5c.740A>C (p.Gln247Pro)
c.1028A>C (p.Gln343Pro)
c.2063A>C (p.Gln688Pro)
n.322A>C
c.1013A>C (p.Gln338Pro)
c.962A>C (p.Gln321Pro)
c.1064A>C (p.Gln355Pro)
c.974A>C (p.Gln325Pro)
c.965A>C (p.Gln322Pro)
3g.123325348G>ACA354218357ADCY5c.739C>T (p.Gln247Ter)
c.1027C>T (p.Gln343Ter)
c.2062C>T (p.Gln688Ter)
n.321C>T
c.1012C>T (p.Gln338Ter)
c.961C>T (p.Gln321Ter)
c.1063C>T (p.Gln355Ter)
c.973C>T (p.Gln325Ter)
c.964C>T (p.Gln322Ter)
 dbSNP
3g.123325348G>CCA354218359ADCY5c.739C>G (p.Gln247Glu)
c.1027C>G (p.Gln343Glu)
c.2062C>G (p.Gln688Glu)
n.321C>G
c.1012C>G (p.Gln338Glu)
c.961C>G (p.Gln321Glu)
c.1063C>G (p.Gln355Glu)
c.973C>G (p.Gln325Glu)
c.964C>G (p.Gln322Glu)
 gnomAD v4
3g.123325348G=CA1398346235ADCY5c.739C= (p.Gln247=)
c.1027C= (p.Gln343=)
c.2062C= (p.Gln688=)
n.321C=
c.1012C= (p.Gln338=)
c.961C= (p.Gln321=)
c.1063C= (p.Gln355=)
c.973C= (p.Gln325=)
c.964C= (p.Gln322=)
3g.123325348G>TCA354218360ADCY5c.739C>A (p.Gln247Lys)
c.1027C>A (p.Gln343Lys)
c.2062C>A (p.Gln688Lys)
n.321C>A
c.1012C>A (p.Gln338Lys)
c.961C>A (p.Gln321Lys)
c.1063C>A (p.Gln355Lys)
c.973C>A (p.Gln325Lys)
c.964C>A (p.Gln322Lys)
 COSMIC
3g.123325349G>ACA2577276ADCY5c.738C>T (p.Asn246=)
c.1026C>T (p.Asn342=)
c.2061C>T (p.Asn687=)
n.320C>T
c.1011C>T (p.Asn337=)
c.960C>T (p.Asn320=)
c.1062C>T (p.Asn354=)
c.972C>T (p.Asn324=)
c.963C>T (p.Asn321=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325349G>CCA354218363ADCY5c.738C>G (p.Asn246Lys)
c.1026C>G (p.Asn342Lys)
c.2061C>G (p.Asn687Lys)
n.320C>G
c.1011C>G (p.Asn337Lys)
c.960C>G (p.Asn320Lys)
c.1062C>G (p.Asn354Lys)
c.972C>G (p.Asn324Lys)
c.963C>G (p.Asn321Lys)
3g.123325349G=CA1398346236ADCY5c.738C= (p.Asn246=)
c.1026C= (p.Asn342=)
c.2061C= (p.Asn687=)
n.320C=
c.1011C= (p.Asn337=)
c.960C= (p.Asn320=)
c.1062C= (p.Asn354=)
c.972C= (p.Asn324=)
c.963C= (p.Asn321=)
3g.123325349G>TCA354218364ADCY5c.738C>A (p.Asn246Lys)
c.1026C>A (p.Asn342Lys)
c.2061C>A (p.Asn687Lys)
n.320C>A
c.1011C>A (p.Asn337Lys)
c.960C>A (p.Asn320Lys)
c.1062C>A (p.Asn354Lys)
c.972C>A (p.Asn324Lys)
c.963C>A (p.Asn321Lys)
3g.123325350T>ACA354218367ADCY5c.737A>T (p.Asn246Ile)
c.1025A>T (p.Asn342Ile)
c.2060A>T (p.Asn687Ile)
n.319A>T
c.1010A>T (p.Asn337Ile)
c.959A>T (p.Asn320Ile)
c.1061A>T (p.Asn354Ile)
c.971A>T (p.Asn324Ile)
c.962A>T (p.Asn321Ile)
3g.123325350T>CCA354218368ADCY5c.737A>G (p.Asn246Ser)
c.1025A>G (p.Asn342Ser)
c.2060A>G (p.Asn687Ser)
n.319A>G
c.1010A>G (p.Asn337Ser)
c.959A>G (p.Asn320Ser)
c.1061A>G (p.Asn354Ser)
c.971A>G (p.Asn324Ser)
c.962A>G (p.Asn321Ser)
 gnomAD v4
3g.123325350T>GCA354218370ADCY5c.737A>C (p.Asn246Thr)
c.1025A>C (p.Asn342Thr)
c.2060A>C (p.Asn687Thr)
n.319A>C
c.1010A>C (p.Asn337Thr)
c.959A>C (p.Asn320Thr)
c.1061A>C (p.Asn354Thr)
c.971A>C (p.Asn324Thr)
c.962A>C (p.Asn321Thr)
3g.123325351T>ACA354218373ADCY5c.736A>T (p.Asn246Tyr)
c.1024A>T (p.Asn342Tyr)
c.2059A>T (p.Asn687Tyr)
n.318A>T
c.1009A>T (p.Asn337Tyr)
c.958A>T (p.Asn320Tyr)
c.1060A>T (p.Asn354Tyr)
c.970A>T (p.Asn324Tyr)
c.961A>T (p.Asn321Tyr)
3g.123325351T>CCA354218374ADCY5c.736A>G (p.Asn246Asp)
c.1024A>G (p.Asn342Asp)
c.2059A>G (p.Asn687Asp)
n.318A>G
c.1009A>G (p.Asn337Asp)
c.958A>G (p.Asn320Asp)
c.1060A>G (p.Asn354Asp)
c.970A>G (p.Asn324Asp)
c.961A>G (p.Asn321Asp)
3g.123325351T>GCA354218376ADCY5c.736A>C (p.Asn246His)
c.1024A>C (p.Asn342His)
c.2059A>C (p.Asn687His)
n.318A>C
c.1009A>C (p.Asn337His)
c.958A>C (p.Asn320His)
c.1060A>C (p.Asn354His)
c.970A>C (p.Asn324His)
c.961A>C (p.Asn321His)
3g.123325352G>ACA435293336ADCY5c.735C>T (p.Gly245=)
c.1023C>T (p.Gly341=)
c.2058C>T (p.Gly686=)
n.317C>T
c.1008C>T (p.Gly336=)
c.957C>T (p.Gly319=)
c.1059C>T (p.Gly353=)
c.969C>T (p.Gly323=)
c.960C>T (p.Gly320=)
 gnomAD v4
3g.123325352G>CCA435293337ADCY5c.735C>G (p.Gly245=)
c.1023C>G (p.Gly341=)
c.2058C>G (p.Gly686=)
n.317C>G
c.1008C>G (p.Gly336=)
c.957C>G (p.Gly319=)
c.1059C>G (p.Gly353=)
c.969C>G (p.Gly323=)
c.960C>G (p.Gly320=)
3g.123325352G>TCA435293338ADCY5c.735C>A (p.Gly245=)
c.1023C>A (p.Gly341=)
c.2058C>A (p.Gly686=)
n.317C>A
c.1008C>A (p.Gly336=)
c.957C>A (p.Gly319=)
c.1059C>A (p.Gly353=)
c.969C>A (p.Gly323=)
c.960C>A (p.Gly320=)
 COSMIC
3g.123325353C>ACA354218379ADCY5c.734G>T (p.Gly245Val)
c.1022G>T (p.Gly341Val)
c.2057G>T (p.Gly686Val)
n.316G>T
c.1007G>T (p.Gly336Val)
c.956G>T (p.Gly319Val)
c.1058G>T (p.Gly353Val)
c.968G>T (p.Gly323Val)
c.959G>T (p.Gly320Val)
3g.123325353C=CA1398346237ADCY5c.734G= (p.Gly245=)
c.1022G= (p.Gly341=)
c.2057G= (p.Gly686=)
n.316G=
c.1007G= (p.Gly336=)
c.956G= (p.Gly319=)
c.1058G= (p.Gly353=)
c.968G= (p.Gly323=)
c.959G= (p.Gly320=)
3g.123325353C>GCA354218381ADCY5c.734G>C (p.Gly245Ala)
c.1022G>C (p.Gly341Ala)
c.2057G>C (p.Gly686Ala)
n.316G>C
c.1007G>C (p.Gly336Ala)
c.956G>C (p.Gly319Ala)
c.1058G>C (p.Gly353Ala)
c.968G>C (p.Gly323Ala)
c.959G>C (p.Gly320Ala)
3g.123325353C>TCA2577277ADCY5c.734G>A (p.Gly245Asp)
c.1022G>A (p.Gly341Asp)
c.2057G>A (p.Gly686Asp)
n.316G>A
c.1007G>A (p.Gly336Asp)
c.956G>A (p.Gly319Asp)
c.1058G>A (p.Gly353Asp)
c.968G>A (p.Gly323Asp)
c.959G>A (p.Gly320Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325354C>ACA354218383ADCY5c.733G>T (p.Gly245Cys)
c.1021G>T (p.Gly341Cys)
c.2056G>T (p.Gly686Cys)
n.315G>T
c.1006G>T (p.Gly336Cys)
c.955G>T (p.Gly319Cys)
c.1057G>T (p.Gly353Cys)
c.967G>T (p.Gly323Cys)
c.958G>T (p.Gly320Cys)
 gnomAD v4
3g.123325354C>GCA354218384ADCY5c.733G>C (p.Gly245Arg)
c.1021G>C (p.Gly341Arg)
c.2056G>C (p.Gly686Arg)
n.315G>C
c.1006G>C (p.Gly336Arg)
c.955G>C (p.Gly319Arg)
c.1057G>C (p.Gly353Arg)
c.967G>C (p.Gly323Arg)
c.958G>C (p.Gly320Arg)
3g.123325354C>TCA354218387ADCY5c.733G>A (p.Gly245Ser)
c.1021G>A (p.Gly341Ser)
c.2056G>A (p.Gly686Ser)
n.315G>A
c.1006G>A (p.Gly336Ser)
c.955G>A (p.Gly319Ser)
c.1057G>A (p.Gly353Ser)
c.967G>A (p.Gly323Ser)
c.958G>A (p.Gly320Ser)
3g.123325355A>CCA435293341ADCY5c.732T>G (p.Gly244=)
c.1020T>G (p.Gly340=)
c.2055T>G (p.Gly685=)
n.314T>G
c.1005T>G (p.Gly335=)
c.954T>G (p.Gly318=)
c.1056T>G (p.Gly352=)
c.966T>G (p.Gly322=)
c.957T>G (p.Gly319=)
3g.123325355A>GCA435293340ADCY5c.732T>C (p.Gly244=)
c.1020T>C (p.Gly340=)
c.2055T>C (p.Gly685=)
n.314T>C
c.1005T>C (p.Gly335=)
c.954T>C (p.Gly318=)
c.1056T>C (p.Gly352=)
c.966T>C (p.Gly322=)
c.957T>C (p.Gly319=)
3g.123325355A>TCA435293339ADCY5c.732T>A (p.Gly244=)
c.1020T>A (p.Gly340=)
c.2055T>A (p.Gly685=)
n.314T>A
c.1005T>A (p.Gly335=)
c.954T>A (p.Gly318=)
c.1056T>A (p.Gly352=)
c.966T>A (p.Gly322=)
c.957T>A (p.Gly319=)
3g.123325356C>ACA354218391ADCY5c.731G>T (p.Gly244Val)
c.1019G>T (p.Gly340Val)
c.2054G>T (p.Gly685Val)
n.313G>T
c.1004G>T (p.Gly335Val)
c.953G>T (p.Gly318Val)
c.1055G>T (p.Gly352Val)
c.965G>T (p.Gly322Val)
c.956G>T (p.Gly319Val)
 dbSNP gnomAD v3 gnomAD v4
3g.123325356C=CA1398346238ADCY5c.731G= (p.Gly244=)
c.1019G= (p.Gly340=)
c.2054G= (p.Gly685=)
n.313G=
c.1004G= (p.Gly335=)
c.953G= (p.Gly318=)
c.1055G= (p.Gly352=)
c.965G= (p.Gly322=)
c.956G= (p.Gly319=)
3g.123325356C>GCA354218393ADCY5c.731G>C (p.Gly244Ala)
c.1019G>C (p.Gly340Ala)
c.2054G>C (p.Gly685Ala)
n.313G>C
c.1004G>C (p.Gly335Ala)
c.953G>C (p.Gly318Ala)
c.1055G>C (p.Gly352Ala)
c.965G>C (p.Gly322Ala)
c.956G>C (p.Gly319Ala)
3g.123325356C>TCA354218389ADCY5c.731G>A (p.Gly244Asp)
c.1019G>A (p.Gly340Asp)
c.2054G>A (p.Gly685Asp)
n.313G>A
c.1004G>A (p.Gly335Asp)
c.953G>A (p.Gly318Asp)
c.1055G>A (p.Gly352Asp)
c.965G>A (p.Gly322Asp)
c.956G>A (p.Gly319Asp)
 dbSNP
3g.123325357C>ACA354218395ADCY5c.730G>T (p.Gly244Cys)
c.1018G>T (p.Gly340Cys)
c.2053G>T (p.Gly685Cys)
n.312G>T
c.1003G>T (p.Gly335Cys)
c.952G>T (p.Gly318Cys)
c.1054G>T (p.Gly352Cys)
c.964G>T (p.Gly322Cys)
c.955G>T (p.Gly319Cys)
3g.123325357C>GCA354218399ADCY5c.730G>C (p.Gly244Arg)
c.1018G>C (p.Gly340Arg)
c.2053G>C (p.Gly685Arg)
n.312G>C
c.1003G>C (p.Gly335Arg)
c.952G>C (p.Gly318Arg)
c.1054G>C (p.Gly352Arg)
c.964G>C (p.Gly322Arg)
c.955G>C (p.Gly319Arg)
3g.123325357C>TCA354218397ADCY5c.730G>A (p.Gly244Ser)
c.1018G>A (p.Gly340Ser)
c.2053G>A (p.Gly685Ser)
n.312G>A
c.1003G>A (p.Gly335Ser)
c.952G>A (p.Gly318Ser)
c.1054G>A (p.Gly352Ser)
c.964G>A (p.Gly322Ser)
c.955G>A (p.Gly319Ser)
 gnomAD v4
3g.123325358C>ACA435293342ADCY5c.729G>T (p.Leu243=)
c.1017G>T (p.Leu339=)
c.2052G>T (p.Leu684=)
n.311G>T
c.1002G>T (p.Leu334=)
c.951G>T (p.Leu317=)
c.1053G>T (p.Leu351=)
c.963G>T (p.Leu321=)
c.954G>T (p.Leu318=)
3g.123325358C=CA1398346239ADCY5c.729G= (p.Leu243=)
c.1017G= (p.Leu339=)
c.2052G= (p.Leu684=)
n.311G=
c.1002G= (p.Leu334=)
c.951G= (p.Leu317=)
c.1053G= (p.Leu351=)
c.963G= (p.Leu321=)
c.954G= (p.Leu318=)
3g.123325358C>GCA435293343ADCY5c.729G>C (p.Leu243=)
c.1017G>C (p.Leu339=)
c.2052G>C (p.Leu684=)
n.311G>C
c.1002G>C (p.Leu334=)
c.951G>C (p.Leu317=)
c.1053G>C (p.Leu351=)
c.963G>C (p.Leu321=)
c.954G>C (p.Leu318=)
3g.123325358C>TCA435293344ADCY5c.729G>A (p.Leu243=)
c.1017G>A (p.Leu339=)
c.2052G>A (p.Leu684=)
n.311G>A
c.1002G>A (p.Leu334=)
c.951G>A (p.Leu317=)
c.1053G>A (p.Leu351=)
c.963G>A (p.Leu321=)
c.954G>A (p.Leu318=)
 dbSNP gnomAD v2 gnomAD v4
3g.123325359A>CCA354218401ADCY5c.728T>G (p.Leu243Arg)
c.1016T>G (p.Leu339Arg)
c.2051T>G (p.Leu684Arg)
n.310T>G
c.1001T>G (p.Leu334Arg)
c.950T>G (p.Leu317Arg)
c.1052T>G (p.Leu351Arg)
c.962T>G (p.Leu321Arg)
c.953T>G (p.Leu318Arg)
3g.123325359A>GCA354218403ADCY5c.728T>C (p.Leu243Pro)
c.1016T>C (p.Leu339Pro)
c.2051T>C (p.Leu684Pro)
n.310T>C
c.1001T>C (p.Leu334Pro)
c.950T>C (p.Leu317Pro)
c.1052T>C (p.Leu351Pro)
c.962T>C (p.Leu321Pro)
c.953T>C (p.Leu318Pro)
3g.123325359A>TCA354218405ADCY5c.728T>A (p.Leu243Gln)
c.1016T>A (p.Leu339Gln)
c.2051T>A (p.Leu684Gln)
n.310T>A
c.1001T>A (p.Leu334Gln)
c.950T>A (p.Leu317Gln)
c.1052T>A (p.Leu351Gln)
c.962T>A (p.Leu321Gln)
c.953T>A (p.Leu318Gln)
3g.123325360G>ACA435293345ADCY5c.727C>T (p.Leu243=)
c.1015C>T (p.Leu339=)
c.2050C>T (p.Leu684=)
n.309C>T
c.1000C>T (p.Leu334=)
c.949C>T (p.Leu317=)
c.1051C>T (p.Leu351=)
c.961C>T (p.Leu321=)
c.952C>T (p.Leu318=)
 dbSNP
3g.123325360G>CCA354218407ADCY5c.727C>G (p.Leu243Val)
c.1015C>G (p.Leu339Val)
c.2050C>G (p.Leu684Val)
n.309C>G
c.1000C>G (p.Leu334Val)
c.949C>G (p.Leu317Val)
c.1051C>G (p.Leu351Val)
c.961C>G (p.Leu321Val)
c.952C>G (p.Leu318Val)
3g.123325360G>TCA354218408ADCY5c.727C>A (p.Leu243Met)
c.1015C>A (p.Leu339Met)
c.2050C>A (p.Leu684Met)
n.309C>A
c.1000C>A (p.Leu334Met)
c.949C>A (p.Leu317Met)
c.1051C>A (p.Leu351Met)
c.961C>A (p.Leu321Met)
c.952C>A (p.Leu318Met)
3g.123325361G>ACA435293346ADCY5c.726C>T (p.His242=)
c.1014C>T (p.His338=)
c.2049C>T (p.His683=)
n.308C>T
c.999C>T (p.His333=)
c.948C>T (p.His316=)
c.1050C>T (p.His350=)
c.960C>T (p.His320=)
c.951C>T (p.His317=)
 dbSNP
3g.123325361G>CCA354218410ADCY5c.726C>G (p.His242Gln)
c.1014C>G (p.His338Gln)
c.2049C>G (p.His683Gln)
n.308C>G
c.999C>G (p.His333Gln)
c.948C>G (p.His316Gln)
c.1050C>G (p.His350Gln)
c.960C>G (p.His320Gln)
c.951C>G (p.His317Gln)
3g.123325361G=CA1398346240ADCY5c.726C= (p.His242=)
c.1014C= (p.His338=)
c.2049C= (p.His683=)
n.308C=
c.999C= (p.His333=)
c.948C= (p.His316=)
c.1050C= (p.His350=)
c.960C= (p.His320=)
c.951C= (p.His317=)
3g.123325361G>TCA354218412ADCY5c.726C>A (p.His242Gln)
c.1014C>A (p.His338Gln)
c.2049C>A (p.His683Gln)
n.308C>A
c.999C>A (p.His333Gln)
c.948C>A (p.His316Gln)
c.1050C>A (p.His350Gln)
c.960C>A (p.His320Gln)
c.951C>A (p.His317Gln)
3g.123325362T>ACA354218414ADCY5c.725A>T (p.His242Leu)
c.1013A>T (p.His338Leu)
c.2048A>T (p.His683Leu)
n.307A>T
c.998A>T (p.His333Leu)
c.947A>T (p.His316Leu)
c.1049A>T (p.His350Leu)
c.959A>T (p.His320Leu)
c.950A>T (p.His317Leu)
3g.123325362T>CCA354218416ADCY5c.725A>G (p.His242Arg)
c.1013A>G (p.His338Arg)
c.2048A>G (p.His683Arg)
n.307A>G
c.998A>G (p.His333Arg)
c.947A>G (p.His316Arg)
c.1049A>G (p.His350Arg)
c.959A>G (p.His320Arg)
c.950A>G (p.His317Arg)
 gnomAD v4
3g.123325362T>GCA354218418ADCY5c.725A>C (p.His242Pro)
c.1013A>C (p.His338Pro)
c.2048A>C (p.His683Pro)
n.307A>C
c.998A>C (p.His333Pro)
c.947A>C (p.His316Pro)
c.1049A>C (p.His350Pro)
c.959A>C (p.His320Pro)
c.950A>C (p.His317Pro)
3g.123325362_123325363delinsTGCA1398346241ADCY5c.724_725delinsCA (p.His242=)
c.1012_1013delinsCA (p.His338=)
c.2047_2048delinsCA (p.His683=)
n.306_307delinsCA
c.997_998delinsCA (p.His333=)
c.946_947delinsCA (p.His316=)
c.1048_1049delinsCA (p.His350=)
c.958_959delinsCA (p.His320=)
c.949_950delinsCA (p.His317=)
3g.123325363G>ACA354218424ADCY5c.724C>T (p.His242Tyr)
c.1012C>T (p.His338Tyr)
c.2047C>T (p.His683Tyr)
n.306C>T
c.997C>T (p.His333Tyr)
c.946C>T (p.His316Tyr)
c.1048C>T (p.His350Tyr)
c.958C>T (p.His320Tyr)
c.949C>T (p.His317Tyr)
 dbSNP gnomAD v2
3g.123325363G>CCA354218423ADCY5c.724C>G (p.His242Asp)
c.1012C>G (p.His338Asp)
c.2047C>G (p.His683Asp)
n.306C>G
c.997C>G (p.His333Asp)
c.946C>G (p.His316Asp)
c.1048C>G (p.His350Asp)
c.958C>G (p.His320Asp)
c.949C>G (p.His317Asp)
 gnomAD v4
3g.123325363G=CA1398346242ADCY5c.724C= (p.His242=)
c.1012C= (p.His338=)
c.2047C= (p.His683=)
n.306C=
c.997C= (p.His333=)
c.946C= (p.His316=)
c.1048C= (p.His350=)
c.958C= (p.His320=)
c.949C= (p.His317=)
3g.123325363G>TCA354218421ADCY5c.724C>A (p.His242Asn)
c.1012C>A (p.His338Asn)
c.2047C>A (p.His683Asn)
n.306C>A
c.997C>A (p.His333Asn)
c.946C>A (p.His316Asn)
c.1048C>A (p.His350Asn)
c.958C>A (p.His320Asn)
c.949C>A (p.His317Asn)
3g.123325364delCA2577278ADCY5c.724del (p.His242ThrfsTer11)
c.1012del (p.His338ThrfsTer11)
c.2047del (p.His683ThrfsTer11)
n.306del
c.997del (p.His333ThrfsTer11)
c.946del (p.His316ThrfsTer11)
c.1048del (p.His350ThrfsTer11)
c.958del (p.His320ThrfsTer11)
c.949del (p.His317ThrfsTer11)
 dbSNP ExAC gnomAD v2
3g.123325364G>ACA435293347ADCY5c.723C>T (p.Asn241=)
c.1011C>T (p.Asn337=)
c.2046C>T (p.Asn682=)
n.305C>T
c.996C>T (p.Asn332=)
c.945C>T (p.Asn315=)
c.1047C>T (p.Asn349=)
c.957C>T (p.Asn319=)
c.948C>T (p.Asn316=)
 gnomAD v4
3g.123325364G>CCA354218425ADCY5c.723C>G (p.Asn241Lys)
c.1011C>G (p.Asn337Lys)
c.2046C>G (p.Asn682Lys)
n.305C>G
c.996C>G (p.Asn332Lys)
c.945C>G (p.Asn315Lys)
c.1047C>G (p.Asn349Lys)
c.957C>G (p.Asn319Lys)
c.948C>G (p.Asn316Lys)
3g.123325364G>TCA354218426ADCY5c.723C>A (p.Asn241Lys)
c.1011C>A (p.Asn337Lys)
c.2046C>A (p.Asn682Lys)
n.305C>A
c.996C>A (p.Asn332Lys)
c.945C>A (p.Asn315Lys)
c.1047C>A (p.Asn349Lys)
c.957C>A (p.Asn319Lys)
c.948C>A (p.Asn316Lys)
3g.123325365T>ACA354218427ADCY5c.722A>T (p.Asn241Ile)
c.1010A>T (p.Asn337Ile)
c.2045A>T (p.Asn682Ile)
n.304A>T
c.995A>T (p.Asn332Ile)
c.944A>T (p.Asn315Ile)
c.1046A>T (p.Asn349Ile)
c.956A>T (p.Asn319Ile)
c.947A>T (p.Asn316Ile)
3g.123325365T>CCA82899283ADCY5c.722A>G (p.Asn241Ser)
c.1010A>G (p.Asn337Ser)
c.2045A>G (p.Asn682Ser)
n.304A>G
c.995A>G (p.Asn332Ser)
c.944A>G (p.Asn315Ser)
c.1046A>G (p.Asn349Ser)
c.956A>G (p.Asn319Ser)
c.947A>G (p.Asn316Ser)
 dbSNP
3g.123325365T>GCA354218428ADCY5c.722A>C (p.Asn241Thr)
c.1010A>C (p.Asn337Thr)
c.2045A>C (p.Asn682Thr)
n.304A>C
c.995A>C (p.Asn332Thr)
c.944A>C (p.Asn315Thr)
c.1046A>C (p.Asn349Thr)
c.956A>C (p.Asn319Thr)
c.947A>C (p.Asn316Thr)
3g.123325365T=CA1398346243ADCY5c.722A= (p.Asn241=)
c.1010A= (p.Asn337=)
c.2045A= (p.Asn682=)
n.304A=
c.995A= (p.Asn332=)
c.944A= (p.Asn315=)
c.1046A= (p.Asn349=)
c.956A= (p.Asn319=)
c.947A= (p.Asn316=)
3g.123325366T>ACA354218429ADCY5c.721A>T (p.Asn241Tyr)
c.1009A>T (p.Asn337Tyr)
c.2044A>T (p.Asn682Tyr)
n.303A>T
c.994A>T (p.Asn332Tyr)
c.943A>T (p.Asn315Tyr)
c.1045A>T (p.Asn349Tyr)
c.955A>T (p.Asn319Tyr)
c.946A>T (p.Asn316Tyr)
3g.123325366T>CCA354218430ADCY5c.721A>G (p.Asn241Asp)
c.1009A>G (p.Asn337Asp)
c.2044A>G (p.Asn682Asp)
n.303A>G
c.994A>G (p.Asn332Asp)
c.943A>G (p.Asn315Asp)
c.1045A>G (p.Asn349Asp)
c.955A>G (p.Asn319Asp)
c.946A>G (p.Asn316Asp)
3g.123325366T>GCA354218431ADCY5c.721A>C (p.Asn241His)
c.1009A>C (p.Asn337His)
c.2044A>C (p.Asn682His)
n.303A>C
c.994A>C (p.Asn332His)
c.943A>C (p.Asn315His)
c.1045A>C (p.Asn349His)
c.955A>C (p.Asn319His)
c.946A>C (p.Asn316His)
3g.123325367G>ACA435293348ADCY5c.720C>T (p.Tyr240=)
c.1008C>T (p.Tyr336=)
c.2043C>T (p.Tyr681=)
n.302C>T
c.993C>T (p.Tyr331=)
c.942C>T (p.Tyr314=)
c.1044C>T (p.Tyr348=)
c.954C>T (p.Tyr318=)
c.945C>T (p.Tyr315=)
 dbSNP gnomAD v3 gnomAD v4
3g.123325367G>CCA354218432ADCY5c.720C>G (p.Tyr240Ter)
c.1008C>G (p.Tyr336Ter)
c.2043C>G (p.Tyr681Ter)
n.302C>G
c.993C>G (p.Tyr331Ter)
c.942C>G (p.Tyr314Ter)
c.1044C>G (p.Tyr348Ter)
c.954C>G (p.Tyr318Ter)
c.945C>G (p.Tyr315Ter)
3g.123325367G=CA1398346244ADCY5c.720C= (p.Tyr240=)
c.1008C= (p.Tyr336=)
c.2043C= (p.Tyr681=)
n.302C=
c.993C= (p.Tyr331=)
c.942C= (p.Tyr314=)
c.1044C= (p.Tyr348=)
c.954C= (p.Tyr318=)
c.945C= (p.Tyr315=)
3g.123325367G>TCA354218433ADCY5c.720C>A (p.Tyr240Ter)
c.1008C>A (p.Tyr336Ter)
c.2043C>A (p.Tyr681Ter)
n.302C>A
c.993C>A (p.Tyr331Ter)
c.942C>A (p.Tyr314Ter)
c.1044C>A (p.Tyr348Ter)
c.954C>A (p.Tyr318Ter)
c.945C>A (p.Tyr315Ter)
3g.123325368T>ACA354218435ADCY5c.719A>T (p.Tyr240Phe)
c.1007A>T (p.Tyr336Phe)
c.2042A>T (p.Tyr681Phe)
n.301A>T
c.992A>T (p.Tyr331Phe)
c.941A>T (p.Tyr314Phe)
c.1043A>T (p.Tyr348Phe)
c.953A>T (p.Tyr318Phe)
c.944A>T (p.Tyr315Phe)
3g.123325368T>CCA2577279ADCY5c.719A>G (p.Tyr240Cys)
c.1007A>G (p.Tyr336Cys)
c.2042A>G (p.Tyr681Cys)
n.301A>G
c.992A>G (p.Tyr331Cys)
c.941A>G (p.Tyr314Cys)
c.1043A>G (p.Tyr348Cys)
c.953A>G (p.Tyr318Cys)
c.944A>G (p.Tyr315Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325368T>GCA354218434ADCY5c.719A>C (p.Tyr240Ser)
c.1007A>C (p.Tyr336Ser)
c.2042A>C (p.Tyr681Ser)
n.301A>C
c.992A>C (p.Tyr331Ser)
c.941A>C (p.Tyr314Ser)
c.1043A>C (p.Tyr348Ser)
c.953A>C (p.Tyr318Ser)
c.944A>C (p.Tyr315Ser)
3g.123325368T=CA1398346245ADCY5c.719A= (p.Tyr240=)
c.1007A= (p.Tyr336=)
c.2042A= (p.Tyr681=)
n.301A=
c.992A= (p.Tyr331=)
c.941A= (p.Tyr314=)
c.1043A= (p.Tyr348=)
c.953A= (p.Tyr318=)
c.944A= (p.Tyr315=)
3g.123325369A>CCA354218436ADCY5c.718T>G (p.Tyr240Asp)
c.1006T>G (p.Tyr336Asp)
c.2041T>G (p.Tyr681Asp)
n.300T>G
c.991T>G (p.Tyr331Asp)
c.940T>G (p.Tyr314Asp)
c.1042T>G (p.Tyr348Asp)
c.952T>G (p.Tyr318Asp)
c.943T>G (p.Tyr315Asp)
3g.123325369A>GCA354218437ADCY5c.718T>C (p.Tyr240His)
c.1006T>C (p.Tyr336His)
c.2041T>C (p.Tyr681His)
n.300T>C
c.991T>C (p.Tyr331His)
c.940T>C (p.Tyr314His)
c.1042T>C (p.Tyr348His)
c.952T>C (p.Tyr318His)
c.943T>C (p.Tyr315His)
3g.123325369A>TCA354218438ADCY5c.718T>A (p.Tyr240Asn)
c.1006T>A (p.Tyr336Asn)
c.2041T>A (p.Tyr681Asn)
n.300T>A
c.991T>A (p.Tyr331Asn)
c.940T>A (p.Tyr314Asn)
c.1042T>A (p.Tyr348Asn)
c.952T>A (p.Tyr318Asn)
c.943T>A (p.Tyr315Asn)
3g.123325370G>ACA435293349ADCY5c.717C>T (p.Phe239=)
c.1005C>T (p.Phe335=)
c.2040C>T (p.Phe680=)
n.299C>T
c.990C>T (p.Phe330=)
c.939C>T (p.Phe313=)
c.1041C>T (p.Phe347=)
c.951C>T (p.Phe317=)
c.942C>T (p.Phe314=)
3g.123325370G>CCA354218439ADCY5c.717C>G (p.Phe239Leu)
c.1005C>G (p.Phe335Leu)
c.2040C>G (p.Phe680Leu)
n.299C>G
c.990C>G (p.Phe330Leu)
c.939C>G (p.Phe313Leu)
c.1041C>G (p.Phe347Leu)
c.951C>G (p.Phe317Leu)
c.942C>G (p.Phe314Leu)
3g.123325370G>TCA354218440ADCY5c.717C>A (p.Phe239Leu)
c.1005C>A (p.Phe335Leu)
c.2040C>A (p.Phe680Leu)
n.299C>A
c.990C>A (p.Phe330Leu)
c.939C>A (p.Phe313Leu)
c.1041C>A (p.Phe347Leu)
c.951C>A (p.Phe317Leu)
c.942C>A (p.Phe314Leu)
3g.123325371A>CCA354218441ADCY5c.716T>G (p.Phe239Cys)
c.1004T>G (p.Phe335Cys)
c.2039T>G (p.Phe680Cys)
n.298T>G
c.989T>G (p.Phe330Cys)
c.938T>G (p.Phe313Cys)
c.1040T>G (p.Phe347Cys)
c.950T>G (p.Phe317Cys)
c.941T>G (p.Phe314Cys)
3g.123325371A>GCA354218442ADCY5c.716T>C (p.Phe239Ser)
c.1004T>C (p.Phe335Ser)
c.2039T>C (p.Phe680Ser)
n.298T>C
c.989T>C (p.Phe330Ser)
c.938T>C (p.Phe313Ser)
c.1040T>C (p.Phe347Ser)
c.950T>C (p.Phe317Ser)
c.941T>C (p.Phe314Ser)
3g.123325371A>TCA354218443ADCY5c.716T>A (p.Phe239Tyr)
c.1004T>A (p.Phe335Tyr)
c.2039T>A (p.Phe680Tyr)
n.298T>A
c.989T>A (p.Phe330Tyr)
c.938T>A (p.Phe313Tyr)
c.1040T>A (p.Phe347Tyr)
c.950T>A (p.Phe317Tyr)
c.941T>A (p.Phe314Tyr)
3g.123325372A>CCA354218444ADCY5c.715T>G (p.Phe239Val)
c.1003T>G (p.Phe335Val)
c.2038T>G (p.Phe680Val)
n.297T>G
c.988T>G (p.Phe330Val)
c.937T>G (p.Phe313Val)
c.1039T>G (p.Phe347Val)
c.949T>G (p.Phe317Val)
c.940T>G (p.Phe314Val)
3g.123325372A>GCA354218445ADCY5c.715T>C (p.Phe239Leu)
c.1003T>C (p.Phe335Leu)
c.2038T>C (p.Phe680Leu)
n.297T>C
c.988T>C (p.Phe330Leu)
c.937T>C (p.Phe313Leu)
c.1039T>C (p.Phe347Leu)
c.949T>C (p.Phe317Leu)
c.940T>C (p.Phe314Leu)
3g.123325372A>TCA354218446ADCY5c.715T>A (p.Phe239Ile)
c.1003T>A (p.Phe335Ile)
c.2038T>A (p.Phe680Ile)
n.297T>A
c.988T>A (p.Phe330Ile)
c.937T>A (p.Phe313Ile)
c.1039T>A (p.Phe347Ile)
c.949T>A (p.Phe317Ile)
c.940T>A (p.Phe314Ile)
3g.123325373G>ACA2577280ADCY5c.714C>T (p.Pro238=)
c.1002C>T (p.Pro334=)
c.2037C>T (p.Pro679=)
n.296C>T
c.987C>T (p.Pro329=)
c.936C>T (p.Pro312=)
c.1038C>T (p.Pro346=)
c.948C>T (p.Pro316=)
c.939C>T (p.Pro313=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325373G>CCA435293350ADCY5c.714C>G (p.Pro238=)
c.1002C>G (p.Pro334=)
c.2037C>G (p.Pro679=)
n.296C>G
c.987C>G (p.Pro329=)
c.936C>G (p.Pro312=)
c.1038C>G (p.Pro346=)
c.948C>G (p.Pro316=)
c.939C>G (p.Pro313=)
 dbSNP
3g.123325373G=CA1398346246ADCY5c.714C= (p.Pro238=)
c.1002C= (p.Pro334=)
c.2037C= (p.Pro679=)
n.296C=
c.987C= (p.Pro329=)
c.936C= (p.Pro312=)
c.1038C= (p.Pro346=)
c.948C= (p.Pro316=)
c.939C= (p.Pro313=)
3g.123325373G>TCA435293351ADCY5c.714C>A (p.Pro238=)
c.1002C>A (p.Pro334=)
c.2037C>A (p.Pro679=)
n.296C>A
c.987C>A (p.Pro329=)
c.936C>A (p.Pro312=)
c.1038C>A (p.Pro346=)
c.948C>A (p.Pro316=)
c.939C>A (p.Pro313=)
 dbSNP
3g.123325374G>ACA354218449ADCY5c.713C>T (p.Pro238Leu)
c.1001C>T (p.Pro334Leu)
c.2036C>T (p.Pro679Leu)
n.295C>T
c.986C>T (p.Pro329Leu)
c.935C>T (p.Pro312Leu)
c.1037C>T (p.Pro346Leu)
c.947C>T (p.Pro316Leu)
c.938C>T (p.Pro313Leu)
 dbSNP COSMIC
3g.123325374G>CCA354218447ADCY5c.713C>G (p.Pro238Arg)
c.1001C>G (p.Pro334Arg)
c.2036C>G (p.Pro679Arg)
n.295C>G
c.986C>G (p.Pro329Arg)
c.935C>G (p.Pro312Arg)
c.1037C>G (p.Pro346Arg)
c.947C>G (p.Pro316Arg)
c.938C>G (p.Pro313Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.123325374G=CA1398346247ADCY5c.713C= (p.Pro238=)
c.1001C= (p.Pro334=)
c.2036C= (p.Pro679=)
n.295C=
c.986C= (p.Pro329=)
c.935C= (p.Pro312=)
c.1037C= (p.Pro346=)
c.947C= (p.Pro316=)
c.938C= (p.Pro313=)
3g.123325374G>TCA354218448ADCY5c.713C>A (p.Pro238His)
c.1001C>A (p.Pro334His)
c.2036C>A (p.Pro679His)
n.295C>A
c.986C>A (p.Pro329His)
c.935C>A (p.Pro312His)
c.1037C>A (p.Pro346His)
c.947C>A (p.Pro316His)
c.938C>A (p.Pro313His)
3g.123325375G>ACA354218450ADCY5c.712C>T (p.Pro238Ser)
c.1000C>T (p.Pro334Ser)
c.2035C>T (p.Pro679Ser)
n.294C>T
c.985C>T (p.Pro329Ser)
c.934C>T (p.Pro312Ser)
c.1036C>T (p.Pro346Ser)
c.946C>T (p.Pro316Ser)
c.937C>T (p.Pro313Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.123325375G>CCA354218451ADCY5c.712C>G (p.Pro238Ala)
c.1000C>G (p.Pro334Ala)
c.2035C>G (p.Pro679Ala)
n.294C>G
c.985C>G (p.Pro329Ala)
c.934C>G (p.Pro312Ala)
c.1036C>G (p.Pro346Ala)
c.946C>G (p.Pro316Ala)
c.937C>G (p.Pro313Ala)
3g.123325375G=CA1398346248ADCY5c.712C= (p.Pro238=)
c.1000C= (p.Pro334=)
c.2035C= (p.Pro679=)
n.294C=
c.985C= (p.Pro329=)
c.934C= (p.Pro312=)
c.1036C= (p.Pro346=)
c.946C= (p.Pro316=)
c.937C= (p.Pro313=)
3g.123325375G>TCA354218452ADCY5c.712C>A (p.Pro238Thr)
c.1000C>A (p.Pro334Thr)
c.2035C>A (p.Pro679Thr)
n.294C>A
c.985C>A (p.Pro329Thr)
c.934C>A (p.Pro312Thr)
c.1036C>A (p.Pro346Thr)
c.946C>A (p.Pro316Thr)
c.937C>A (p.Pro313Thr)
3g.123325376G>ACA2577281ADCY5c.711C>T (p.Arg237=)
c.999C>T (p.Arg333=)
c.2034C>T (p.Arg678=)
n.293C>T
c.984C>T (p.Arg328=)
c.933C>T (p.Arg311=)
c.1035C>T (p.Arg345=)
c.945C>T (p.Arg315=)
c.936C>T (p.Arg312=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325376G>CCA435293352ADCY5c.711C>G (p.Arg237=)
c.999C>G (p.Arg333=)
c.2034C>G (p.Arg678=)
n.293C>G
c.984C>G (p.Arg328=)
c.933C>G (p.Arg311=)
c.1035C>G (p.Arg345=)
c.945C>G (p.Arg315=)
c.936C>G (p.Arg312=)
3g.123325376G=CA1398346249ADCY5c.711C= (p.Arg237=)
c.999C= (p.Arg333=)
c.2034C= (p.Arg678=)
n.293C=
c.984C= (p.Arg328=)
c.933C= (p.Arg311=)
c.1035C= (p.Arg345=)
c.945C= (p.Arg315=)
c.936C= (p.Arg312=)
3g.123325376G>TCA435293353ADCY5c.711C>A (p.Arg237=)
c.999C>A (p.Arg333=)
c.2034C>A (p.Arg678=)
n.293C>A
c.984C>A (p.Arg328=)
c.933C>A (p.Arg311=)
c.1035C>A (p.Arg345=)
c.945C>A (p.Arg315=)
c.936C>A (p.Arg312=)
3g.123325377C>ACA354218453ADCY5c.710G>T (p.Arg237Leu)
c.998G>T (p.Arg333Leu)
c.2033G>T (p.Arg678Leu)
n.292G>T
c.983G>T (p.Arg328Leu)
c.932G>T (p.Arg311Leu)
c.1034G>T (p.Arg345Leu)
c.944G>T (p.Arg315Leu)
c.935G>T (p.Arg312Leu)
 gnomAD v4
3g.123325377C=CA1398346250ADCY5c.710G= (p.Arg237=)
c.998G= (p.Arg333=)
c.2033G= (p.Arg678=)
n.292G=
c.983G= (p.Arg328=)
c.932G= (p.Arg311=)
c.1034G= (p.Arg345=)
c.944G= (p.Arg315=)
c.935G= (p.Arg312=)
3g.123325377C>GCA354218454ADCY5c.710G>C (p.Arg237Pro)
c.998G>C (p.Arg333Pro)
c.2033G>C (p.Arg678Pro)
n.292G>C
c.983G>C (p.Arg328Pro)
c.932G>C (p.Arg311Pro)
c.1034G>C (p.Arg345Pro)
c.944G>C (p.Arg315Pro)
c.935G>C (p.Arg312Pro)
3g.123325377C>TCA2577282ADCY5c.710G>A (p.Arg237His)
c.998G>A (p.Arg333His)
c.2033G>A (p.Arg678His)
n.292G>A
c.983G>A (p.Arg328His)
c.932G>A (p.Arg311His)
c.1034G>A (p.Arg345His)
c.944G>A (p.Arg315His)
c.935G>A (p.Arg312His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325378G>ACA2577283ADCY5c.709C>T (p.Arg237Cys)
c.997C>T (p.Arg333Cys)
c.2032C>T (p.Arg678Cys)
n.291C>T
c.982C>T (p.Arg328Cys)
c.931C>T (p.Arg311Cys)
c.1033C>T (p.Arg345Cys)
c.943C>T (p.Arg315Cys)
c.934C>T (p.Arg312Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325378G>CCA354218455ADCY5c.709C>G (p.Arg237Gly)
c.997C>G (p.Arg333Gly)
c.2032C>G (p.Arg678Gly)
n.291C>G
c.982C>G (p.Arg328Gly)
c.931C>G (p.Arg311Gly)
c.1033C>G (p.Arg345Gly)
c.943C>G (p.Arg315Gly)
c.934C>G (p.Arg312Gly)
3g.123325378G=CA1398346251ADCY5c.709C= (p.Arg237=)
c.997C= (p.Arg333=)
c.2032C= (p.Arg678=)
n.291C=
c.982C= (p.Arg328=)
c.931C= (p.Arg311=)
c.1033C= (p.Arg345=)
c.943C= (p.Arg315=)
c.934C= (p.Arg312=)
3g.123325378G>TCA354218456ADCY5c.709C>A (p.Arg237Ser)
c.997C>A (p.Arg333Ser)
c.2032C>A (p.Arg678Ser)
n.291C>A
c.982C>A (p.Arg328Ser)
c.931C>A (p.Arg311Ser)
c.1033C>A (p.Arg345Ser)
c.943C>A (p.Arg315Ser)
c.934C>A (p.Arg312Ser)
3g.123325379C>ACA354218457ADCY5c.708G>T (p.Glu236Asp)
c.996G>T (p.Glu332Asp)
c.2031G>T (p.Glu677Asp)
n.290G>T
c.981G>T (p.Glu327Asp)
c.930G>T (p.Glu310Asp)
c.1032G>T (p.Glu344Asp)
c.942G>T (p.Glu314Asp)
c.933G>T (p.Glu311Asp)
3g.123325379C=CA1398346252ADCY5c.708G= (p.Glu236=)
c.996G= (p.Glu332=)
c.2031G= (p.Glu677=)
n.290G=
c.981G= (p.Glu327=)
c.930G= (p.Glu310=)
c.1032G= (p.Glu344=)
c.942G= (p.Glu314=)
c.933G= (p.Glu311=)
3g.123325379C>GCA354218458ADCY5c.708G>C (p.Glu236Asp)
c.996G>C (p.Glu332Asp)
c.2031G>C (p.Glu677Asp)
n.290G>C
c.981G>C (p.Glu327Asp)
c.930G>C (p.Glu310Asp)
c.1032G>C (p.Glu344Asp)
c.942G>C (p.Glu314Asp)
c.933G>C (p.Glu311Asp)
3g.123325379C>TCA435293354ADCY5c.708G>A (p.Glu236=)
c.996G>A (p.Glu332=)
c.2031G>A (p.Glu677=)
n.290G>A
c.981G>A (p.Glu327=)
c.930G>A (p.Glu310=)
c.1032G>A (p.Glu344=)
c.942G>A (p.Glu314=)
c.933G>A (p.Glu311=)
 dbSNP gnomAD v2 gnomAD v4
3g.123325380T>ACA354218461ADCY5c.707A>T (p.Glu236Val)
c.995A>T (p.Glu332Val)
c.2030A>T (p.Glu677Val)
n.289A>T
c.980A>T (p.Glu327Val)
c.929A>T (p.Glu310Val)
c.1031A>T (p.Glu344Val)
c.941A>T (p.Glu314Val)
c.932A>T (p.Glu311Val)
3g.123325380T>CCA354218460ADCY5c.707A>G (p.Glu236Gly)
c.995A>G (p.Glu332Gly)
c.2030A>G (p.Glu677Gly)
n.289A>G
c.980A>G (p.Glu327Gly)
c.929A>G (p.Glu310Gly)
c.1031A>G (p.Glu344Gly)
c.941A>G (p.Glu314Gly)
c.932A>G (p.Glu311Gly)
3g.123325380T>GCA354218459ADCY5c.707A>C (p.Glu236Ala)
c.995A>C (p.Glu332Ala)
c.2030A>C (p.Glu677Ala)
n.289A>C
c.980A>C (p.Glu327Ala)
c.929A>C (p.Glu310Ala)
c.1031A>C (p.Glu344Ala)
c.941A>C (p.Glu314Ala)
c.932A>C (p.Glu311Ala)
3g.123325381C>ACA354218462ADCY5c.706G>T (p.Glu236Ter)
c.994G>T (p.Glu332Ter)
c.2029G>T (p.Glu677Ter)
n.288G>T
c.979G>T (p.Glu327Ter)
c.928G>T (p.Glu310Ter)
c.1030G>T (p.Glu344Ter)
c.940G>T (p.Glu314Ter)
c.931G>T (p.Glu311Ter)
 dbSNP
3g.123325381C=CA1398346253ADCY5c.706G= (p.Glu236=)
c.994G= (p.Glu332=)
c.2029G= (p.Glu677=)
n.288G=
c.979G= (p.Glu327=)
c.928G= (p.Glu310=)
c.1030G= (p.Glu344=)
c.940G= (p.Glu314=)
c.931G= (p.Glu311=)
3g.123325381C>GCA354218464ADCY5c.706G>C (p.Glu236Gln)
c.994G>C (p.Glu332Gln)
c.2029G>C (p.Glu677Gln)
n.288G>C
c.979G>C (p.Glu327Gln)
c.928G>C (p.Glu310Gln)
c.1030G>C (p.Glu344Gln)
c.940G>C (p.Glu314Gln)
c.931G>C (p.Glu311Gln)
3g.123325381C>TCA354218463ADCY5c.706G>A (p.Glu236Lys)
c.994G>A (p.Glu332Lys)
c.2029G>A (p.Glu677Lys)
n.288G>A
c.979G>A (p.Glu327Lys)
c.928G>A (p.Glu310Lys)
c.1030G>A (p.Glu344Lys)
c.940G>A (p.Glu314Lys)
c.931G>A (p.Glu311Lys)
 dbSNP
3g.123325382A>CCA435293355ADCY5c.705T>G (p.Ala235=)
c.993T>G (p.Ala331=)
c.2028T>G (p.Ala676=)
n.287T>G
c.978T>G (p.Ala326=)
c.927T>G (p.Ala309=)
c.1029T>G (p.Ala343=)
c.939T>G (p.Ala313=)
c.930T>G (p.Ala310=)
3g.123325382A>GCA435293357ADCY5c.705T>C (p.Ala235=)
c.993T>C (p.Ala331=)
c.2028T>C (p.Ala676=)
n.287T>C
c.978T>C (p.Ala326=)
c.927T>C (p.Ala309=)
c.1029T>C (p.Ala343=)
c.939T>C (p.Ala313=)
c.930T>C (p.Ala310=)
3g.123325382A>TCA435293356ADCY5c.705T>A (p.Ala235=)
c.993T>A (p.Ala331=)
c.2028T>A (p.Ala676=)
n.287T>A
c.978T>A (p.Ala326=)
c.927T>A (p.Ala309=)
c.1029T>A (p.Ala343=)
c.939T>A (p.Ala313=)
c.930T>A (p.Ala310=)
3g.123325383G>ACA354218465ADCY5c.704C>T (p.Ala235Val)
c.992C>T (p.Ala331Val)
c.2027C>T (p.Ala676Val)
n.286C>T
c.977C>T (p.Ala326Val)
c.926C>T (p.Ala309Val)
c.1028C>T (p.Ala343Val)
c.938C>T (p.Ala313Val)
c.929C>T (p.Ala310Val)
 COSMIC
3g.123325383G>CCA354218466ADCY5c.704C>G (p.Ala235Gly)
c.992C>G (p.Ala331Gly)
c.2027C>G (p.Ala676Gly)
n.286C>G
c.977C>G (p.Ala326Gly)
c.926C>G (p.Ala309Gly)
c.1028C>G (p.Ala343Gly)
c.938C>G (p.Ala313Gly)
c.929C>G (p.Ala310Gly)
3g.123325383G>TCA354218467ADCY5c.704C>A (p.Ala235Asp)
c.992C>A (p.Ala331Asp)
c.2027C>A (p.Ala676Asp)
n.286C>A
c.977C>A (p.Ala326Asp)
c.926C>A (p.Ala309Asp)
c.1028C>A (p.Ala343Asp)
c.938C>A (p.Ala313Asp)
c.929C>A (p.Ala310Asp)
3g.123325383_123325384delinsGCCA1398346254ADCY5c.703_704delinsGC (p.Ala235=)
c.991_992delinsGC (p.Ala331=)
c.2026_2027delinsGC (p.Ala676=)
n.285_286delinsGC
c.976_977delinsGC (p.Ala326=)
c.925_926delinsGC (p.Ala309=)
c.1027_1028delinsGC (p.Ala343=)
c.937_938delinsGC (p.Ala313=)
c.928_929delinsGC (p.Ala310=)
3g.123325384C>ACA354218468ADCY5c.703G>T (p.Ala235Ser)
c.991G>T (p.Ala331Ser)
c.2026G>T (p.Ala676Ser)
n.285G>T
c.976G>T (p.Ala326Ser)
c.925G>T (p.Ala309Ser)
c.1027G>T (p.Ala343Ser)
c.937G>T (p.Ala313Ser)
c.928G>T (p.Ala310Ser)
 gnomAD v4 COSMIC
3g.123325384C=CA1398346255ADCY5c.703G= (p.Ala235=)
c.991G= (p.Ala331=)
c.2026G= (p.Ala676=)
n.285G=
c.976G= (p.Ala326=)
c.925G= (p.Ala309=)
c.1027G= (p.Ala343=)
c.937G= (p.Ala313=)
c.928G= (p.Ala310=)
3g.123325384C>GCA354218469ADCY5c.703G>C (p.Ala235Pro)
c.991G>C (p.Ala331Pro)
c.2026G>C (p.Ala676Pro)
n.285G>C
c.976G>C (p.Ala326Pro)
c.925G>C (p.Ala309Pro)
c.1027G>C (p.Ala343Pro)
c.937G>C (p.Ala313Pro)
c.928G>C (p.Ala310Pro)
 gnomAD v4
3g.123325384C>TCA354218470ADCY5c.703G>A (p.Ala235Thr)
c.991G>A (p.Ala331Thr)
c.2026G>A (p.Ala676Thr)
n.285G>A
c.976G>A (p.Ala326Thr)
c.925G>A (p.Ala309Thr)
c.1027G>A (p.Ala343Thr)
c.937G>A (p.Ala313Thr)
c.928G>A (p.Ala310Thr)
 dbSNP gnomAD v3 gnomAD v4
3g.123325389dupCA16617820ADCY5c.703dup (p.Ala235GlyfsTer2)
c.991dup (p.Ala331GlyfsTer2)
c.2026dup (p.Ala676GlyfsTer2)
n.285dup
c.976dup (p.Ala326GlyfsTer2)
c.925dup (p.Ala309GlyfsTer2)
c.1027dup (p.Ala343GlyfsTer2)
c.937dup (p.Ala313GlyfsTer2)
c.928dup (p.Ala310GlyfsTer2)
 ClinVar dbSNP
3g.123325389delCA545686503ADCY5c.703del (p.Ala235LeufsTer18)
c.991del (p.Ala331LeufsTer18)
c.2026del (p.Ala676LeufsTer18)
n.285del
c.976del (p.Ala326LeufsTer18)
c.925del (p.Ala309LeufsTer18)
c.1027del (p.Ala343LeufsTer18)
c.937del (p.Ala313LeufsTer18)
c.928del (p.Ala310LeufsTer18)
 dbSNP gnomAD v2 gnomAD v4
3g.123325385C>ACA435293358ADCY5c.702G>T (p.Gly234=)
c.990G>T (p.Gly330=)
c.2025G>T (p.Gly675=)
n.284G>T
c.975G>T (p.Gly325=)
c.924G>T (p.Gly308=)
c.1026G>T (p.Gly342=)
c.936G>T (p.Gly312=)
c.927G>T (p.Gly309=)
 gnomAD v4
3g.123325385C=CA1398346256ADCY5c.702G= (p.Gly234=)
c.990G= (p.Gly330=)
c.2025G= (p.Gly675=)
n.284G=
c.975G= (p.Gly325=)
c.924G= (p.Gly308=)
c.1026G= (p.Gly342=)
c.936G= (p.Gly312=)
c.927G= (p.Gly309=)
3g.123325385C>GCA435293359ADCY5c.702G>C (p.Gly234=)
c.990G>C (p.Gly330=)
c.2025G>C (p.Gly675=)
n.284G>C
c.975G>C (p.Gly325=)
c.924G>C (p.Gly308=)
c.1026G>C (p.Gly342=)
c.936G>C (p.Gly312=)
c.927G>C (p.Gly309=)
 dbSNP gnomAD v4
3g.123325385C>TCA435293360ADCY5c.702G>A (p.Gly234=)
c.990G>A (p.Gly330=)
c.2025G>A (p.Gly675=)
n.284G>A
c.975G>A (p.Gly325=)
c.924G>A (p.Gly308=)
c.1026G>A (p.Gly342=)
c.936G>A (p.Gly312=)
c.927G>A (p.Gly309=)
 gnomAD v4
3g.123325386C>ACA354218473ADCY5c.701G>T (p.Gly234Val)
c.989G>T (p.Gly330Val)
c.2024G>T (p.Gly675Val)
n.283G>T
c.974G>T (p.Gly325Val)
c.923G>T (p.Gly308Val)
c.1025G>T (p.Gly342Val)
c.935G>T (p.Gly312Val)
c.926G>T (p.Gly309Val)
 dbSNP gnomAD v3 gnomAD v4
3g.123325386C=CA1398346257ADCY5c.701G= (p.Gly234=)
c.989G= (p.Gly330=)
c.2024G= (p.Gly675=)
n.283G=
c.974G= (p.Gly325=)
c.923G= (p.Gly308=)
c.1025G= (p.Gly342=)
c.935G= (p.Gly312=)
c.926G= (p.Gly309=)
3g.123325386C>GCA354218472ADCY5c.701G>C (p.Gly234Ala)
c.989G>C (p.Gly330Ala)
c.2024G>C (p.Gly675Ala)
n.283G>C
c.974G>C (p.Gly325Ala)
c.923G>C (p.Gly308Ala)
c.1025G>C (p.Gly342Ala)
c.935G>C (p.Gly312Ala)
c.926G>C (p.Gly309Ala)
3g.123325386C>TCA354218471ADCY5c.701G>A (p.Gly234Glu)
c.989G>A (p.Gly330Glu)
c.2024G>A (p.Gly675Glu)
n.283G>A
c.974G>A (p.Gly325Glu)
c.923G>A (p.Gly308Glu)
c.1025G>A (p.Gly342Glu)
c.935G>A (p.Gly312Glu)
c.926G>A (p.Gly309Glu)
3g.123325387C>ACA354218474ADCY5c.700G>T (p.Gly234Trp)
c.988G>T (p.Gly330Trp)
c.2023G>T (p.Gly675Trp)
n.282G>T
c.973G>T (p.Gly325Trp)
c.922G>T (p.Gly308Trp)
c.1024G>T (p.Gly342Trp)
c.934G>T (p.Gly312Trp)
c.925G>T (p.Gly309Trp)
3g.123325387C>GCA354218475ADCY5c.700G>C (p.Gly234Arg)
c.988G>C (p.Gly330Arg)
c.2023G>C (p.Gly675Arg)
n.282G>C
c.973G>C (p.Gly325Arg)
c.922G>C (p.Gly308Arg)
c.1024G>C (p.Gly342Arg)
c.934G>C (p.Gly312Arg)
c.925G>C (p.Gly309Arg)
3g.123325387C>TCA354218476ADCY5c.700G>A (p.Gly234Arg)
c.988G>A (p.Gly330Arg)
c.2023G>A (p.Gly675Arg)
n.282G>A
c.973G>A (p.Gly325Arg)
c.922G>A (p.Gly308Arg)
c.1024G>A (p.Gly342Arg)
c.934G>A (p.Gly312Arg)
c.925G>A (p.Gly309Arg)
3g.123325388C>ACA354218477ADCY5c.699G>T (p.Trp233Cys)
c.987G>T (p.Trp329Cys)
c.2022G>T (p.Trp674Cys)
n.281G>T
c.972G>T (p.Trp324Cys)
c.921G>T (p.Trp307Cys)
c.1023G>T (p.Trp341Cys)
c.933G>T (p.Trp311Cys)
c.924G>T (p.Trp308Cys)
3g.123325388C=CA1398346258ADCY5c.699G= (p.Trp233=)
c.987G= (p.Trp329=)
c.2022G= (p.Trp674=)
n.281G=
c.972G= (p.Trp324=)
c.921G= (p.Trp307=)
c.1023G= (p.Trp341=)
c.933G= (p.Trp311=)
c.924G= (p.Trp308=)
3g.123325388C>GCA354218478ADCY5c.699G>C (p.Trp233Cys)
c.987G>C (p.Trp329Cys)
c.2022G>C (p.Trp674Cys)
n.281G>C
c.972G>C (p.Trp324Cys)
c.921G>C (p.Trp307Cys)
c.1023G>C (p.Trp341Cys)
c.933G>C (p.Trp311Cys)
c.924G>C (p.Trp308Cys)
3g.123325388C>TCA354218479ADCY5c.699G>A (p.Trp233Ter)
c.987G>A (p.Trp329Ter)
c.2022G>A (p.Trp674Ter)
n.281G>A
c.972G>A (p.Trp324Ter)
c.921G>A (p.Trp307Ter)
c.1023G>A (p.Trp341Ter)
c.933G>A (p.Trp311Ter)
c.924G>A (p.Trp308Ter)
 dbSNP
3g.123325389C>ACA354218480ADCY5c.698G>T (p.Trp233Leu)
c.986G>T (p.Trp329Leu)
c.2021G>T (p.Trp674Leu)
n.280G>T
c.971G>T (p.Trp324Leu)
c.920G>T (p.Trp307Leu)
c.1022G>T (p.Trp341Leu)
c.932G>T (p.Trp311Leu)
c.923G>T (p.Trp308Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123325389C=CA1398346259ADCY5c.698G= (p.Trp233=)
c.986G= (p.Trp329=)
c.2021G= (p.Trp674=)
n.280G=
c.971G= (p.Trp324=)
c.920G= (p.Trp307=)
c.1022G= (p.Trp341=)
c.932G= (p.Trp311=)
c.923G= (p.Trp308=)
3g.123325389C>GCA354218481ADCY5c.698G>C (p.Trp233Ser)
c.986G>C (p.Trp329Ser)
c.2021G>C (p.Trp674Ser)
n.280G>C
c.971G>C (p.Trp324Ser)
c.920G>C (p.Trp307Ser)
c.1022G>C (p.Trp341Ser)
c.932G>C (p.Trp311Ser)
c.923G>C (p.Trp308Ser)
3g.123325389C>TCA82899296ADCY5c.698G>A (p.Trp233Ter)
c.986G>A (p.Trp329Ter)
c.2021G>A (p.Trp674Ter)
n.280G>A
c.971G>A (p.Trp324Ter)
c.920G>A (p.Trp307Ter)
c.1022G>A (p.Trp341Ter)
c.932G>A (p.Trp311Ter)
c.923G>A (p.Trp308Ter)
 dbSNP gnomAD v4
3g.123325390A>CCA354218482ADCY5c.697T>G (p.Trp233Gly)
c.985T>G (p.Trp329Gly)
c.2020T>G (p.Trp674Gly)
n.279T>G
c.970T>G (p.Trp324Gly)
c.919T>G (p.Trp307Gly)
c.1021T>G (p.Trp341Gly)
c.931T>G (p.Trp311Gly)
c.922T>G (p.Trp308Gly)
3g.123325390A>GCA354218483ADCY5c.697T>C (p.Trp233Arg)
c.985T>C (p.Trp329Arg)
c.2020T>C (p.Trp674Arg)
n.279T>C
c.970T>C (p.Trp324Arg)
c.919T>C (p.Trp307Arg)
c.1021T>C (p.Trp341Arg)
c.931T>C (p.Trp311Arg)
c.922T>C (p.Trp308Arg)
3g.123325390A>TCA354218484ADCY5c.697T>A (p.Trp233Arg)
c.985T>A (p.Trp329Arg)
c.2020T>A (p.Trp674Arg)
n.279T>A
c.970T>A (p.Trp324Arg)
c.919T>A (p.Trp307Arg)
c.1021T>A (p.Trp341Arg)
c.931T>A (p.Trp311Arg)
c.922T>A (p.Trp308Arg)
3g.123325391G>ACA435293361ADCY5c.696C>T (p.His232=)
c.984C>T (p.His328=)
c.2019C>T (p.His673=)
n.278C>T
c.969C>T (p.His323=)
c.918C>T (p.His306=)
c.1020C>T (p.His340=)
c.930C>T (p.His310=)
c.921C>T (p.His307=)
 gnomAD v4
3g.123325391G>CCA354218485ADCY5c.696C>G (p.His232Gln)
c.984C>G (p.His328Gln)
c.2019C>G (p.His673Gln)
n.278C>G
c.969C>G (p.His323Gln)
c.918C>G (p.His306Gln)
c.1020C>G (p.His340Gln)
c.930C>G (p.His310Gln)
c.921C>G (p.His307Gln)
3g.123325391G>TCA354218486ADCY5c.696C>A (p.His232Gln)
c.984C>A (p.His328Gln)
c.2019C>A (p.His673Gln)
n.278C>A
c.969C>A (p.His323Gln)
c.918C>A (p.His306Gln)
c.1020C>A (p.His340Gln)
c.930C>A (p.His310Gln)
c.921C>A (p.His307Gln)
3g.123325392T>ACA354218487ADCY5c.695A>T (p.His232Leu)
c.983A>T (p.His328Leu)
c.2018A>T (p.His673Leu)
n.277A>T
c.968A>T (p.His323Leu)
c.917A>T (p.His306Leu)
c.1019A>T (p.His340Leu)
c.929A>T (p.His310Leu)
c.920A>T (p.His307Leu)
3g.123325392T>CCA354218488ADCY5c.695A>G (p.His232Arg)
c.983A>G (p.His328Arg)
c.2018A>G (p.His673Arg)
n.277A>G
c.968A>G (p.His323Arg)
c.917A>G (p.His306Arg)
c.1019A>G (p.His340Arg)
c.929A>G (p.His310Arg)
c.920A>G (p.His307Arg)
3g.123325392T>GCA354218489ADCY5c.695A>C (p.His232Pro)
c.983A>C (p.His328Pro)
c.2018A>C (p.His673Pro)
n.277A>C
c.968A>C (p.His323Pro)
c.917A>C (p.His306Pro)
c.1019A>C (p.His340Pro)
c.929A>C (p.His310Pro)
c.920A>C (p.His307Pro)
3g.123325393G>ACA354218490ADCY5c.694C>T (p.His232Tyr)
c.982C>T (p.His328Tyr)
c.2017C>T (p.His673Tyr)
n.276C>T
c.967C>T (p.His323Tyr)
c.916C>T (p.His306Tyr)
c.1018C>T (p.His340Tyr)
c.928C>T (p.His310Tyr)
c.919C>T (p.His307Tyr)
 dbSNP
3g.123325393G>CCA354218491ADCY5c.694C>G (p.His232Asp)
c.982C>G (p.His328Asp)
c.2017C>G (p.His673Asp)
n.276C>G
c.967C>G (p.His323Asp)
c.916C>G (p.His306Asp)
c.1018C>G (p.His340Asp)
c.928C>G (p.His310Asp)
c.919C>G (p.His307Asp)
3g.123325393G=CA1398346260ADCY5c.694C= (p.His232=)
c.982C= (p.His328=)
c.2017C= (p.His673=)
n.276C=
c.967C= (p.His323=)
c.916C= (p.His306=)
c.1018C= (p.His340=)
c.928C= (p.His310=)
c.919C= (p.His307=)
3g.123325393G>TCA354218492ADCY5c.694C>A (p.His232Asn)
c.982C>A (p.His328Asn)
c.2017C>A (p.His673Asn)
n.276C>A
c.967C>A (p.His323Asn)
c.916C>A (p.His306Asn)
c.1018C>A (p.His340Asn)
c.928C>A (p.His310Asn)
c.919C>A (p.His307Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123325394T>ACA435293362ADCY5c.693A>T (p.Pro231=)
c.981A>T (p.Pro327=)
c.2016A>T (p.Pro672=)
n.275A>T
c.966A>T (p.Pro322=)
c.915A>T (p.Pro305=)
c.1017A>T (p.Pro339=)
c.927A>T (p.Pro309=)
c.918A>T (p.Pro306=)
3g.123325394T>CCA435293363ADCY5c.693A>G (p.Pro231=)
c.981A>G (p.Pro327=)
c.2016A>G (p.Pro672=)
n.275A>G
c.966A>G (p.Pro322=)
c.915A>G (p.Pro305=)
c.1017A>G (p.Pro339=)
c.927A>G (p.Pro309=)
c.918A>G (p.Pro306=)
3g.123325394T>GCA435293364ADCY5c.693A>C (p.Pro231=)
c.981A>C (p.Pro327=)
c.2016A>C (p.Pro672=)
n.275A>C
c.966A>C (p.Pro322=)
c.915A>C (p.Pro305=)
c.1017A>C (p.Pro339=)
c.927A>C (p.Pro309=)
c.918A>C (p.Pro306=)
3g.123325395G>ACA2577284ADCY5c.692C>T (p.Pro231Leu)
c.980C>T (p.Pro327Leu)
c.2015C>T (p.Pro672Leu)
n.274C>T
c.965C>T (p.Pro322Leu)
c.914C>T (p.Pro305Leu)
c.1016C>T (p.Pro339Leu)
c.926C>T (p.Pro309Leu)
c.917C>T (p.Pro306Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325395G>CCA2577285ADCY5c.692C>G (p.Pro231Arg)
c.980C>G (p.Pro327Arg)
c.2015C>G (p.Pro672Arg)
n.274C>G
c.965C>G (p.Pro322Arg)
c.914C>G (p.Pro305Arg)
c.1016C>G (p.Pro339Arg)
c.926C>G (p.Pro309Arg)
c.917C>G (p.Pro306Arg)
 dbSNP ExAC gnomAD v2
3g.123325395G=CA1398346261ADCY5c.692C= (p.Pro231=)
c.980C= (p.Pro327=)
c.2015C= (p.Pro672=)
n.274C=
c.965C= (p.Pro322=)
c.914C= (p.Pro305=)
c.1016C= (p.Pro339=)
c.926C= (p.Pro309=)
c.917C= (p.Pro306=)
3g.123325395G>TCA354218493ADCY5c.692C>A (p.Pro231Gln)
c.980C>A (p.Pro327Gln)
c.2015C>A (p.Pro672Gln)
n.274C>A
c.965C>A (p.Pro322Gln)
c.914C>A (p.Pro305Gln)
c.1016C>A (p.Pro339Gln)
c.926C>A (p.Pro309Gln)
c.917C>A (p.Pro306Gln)
 gnomAD v4
3g.123325396G>ACA2577286ADCY5c.691C>T (p.Pro231Ser)
c.979C>T (p.Pro327Ser)
c.2014C>T (p.Pro672Ser)
n.273C>T
c.964C>T (p.Pro322Ser)
c.913C>T (p.Pro305Ser)
c.1015C>T (p.Pro339Ser)
c.925C>T (p.Pro309Ser)
c.916C>T (p.Pro306Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325396G>CCA354218494ADCY5c.691C>G (p.Pro231Ala)
c.979C>G (p.Pro327Ala)
c.2014C>G (p.Pro672Ala)
n.273C>G
c.964C>G (p.Pro322Ala)
c.913C>G (p.Pro305Ala)
c.1015C>G (p.Pro339Ala)
c.925C>G (p.Pro309Ala)
c.916C>G (p.Pro306Ala)
3g.123325396G=CA1398346262ADCY5c.691C= (p.Pro231=)
c.979C= (p.Pro327=)
c.2014C= (p.Pro672=)
n.273C=
c.964C= (p.Pro322=)
c.913C= (p.Pro305=)
c.1015C= (p.Pro339=)
c.925C= (p.Pro309=)
c.916C= (p.Pro306=)
3g.123325396G>TCA354218495ADCY5c.691C>A (p.Pro231Thr)
c.979C>A (p.Pro327Thr)
c.2014C>A (p.Pro672Thr)
n.273C>A
c.964C>A (p.Pro322Thr)
c.913C>A (p.Pro305Thr)
c.1015C>A (p.Pro339Thr)
c.925C>A (p.Pro309Thr)
c.916C>A (p.Pro306Thr)
3g.123325397T>ACA435293367ADCY5c.690A>T (p.Pro230=)
c.978A>T (p.Pro326=)
c.2013A>T (p.Pro671=)
n.272A>T
c.963A>T (p.Pro321=)
c.912A>T (p.Pro304=)
c.1014A>T (p.Pro338=)
c.924A>T (p.Pro308=)
c.915A>T (p.Pro305=)
3g.123325397T>CCA435293365ADCY5c.690A>G (p.Pro230=)
c.978A>G (p.Pro326=)
c.2013A>G (p.Pro671=)
n.272A>G
c.963A>G (p.Pro321=)
c.912A>G (p.Pro304=)
c.1014A>G (p.Pro338=)
c.924A>G (p.Pro308=)
c.915A>G (p.Pro305=)
3g.123325397T>GCA435293366ADCY5c.690A>C (p.Pro230=)
c.978A>C (p.Pro326=)
c.2013A>C (p.Pro671=)
n.272A>C
c.963A>C (p.Pro321=)
c.912A>C (p.Pro304=)
c.1014A>C (p.Pro338=)
c.924A>C (p.Pro308=)
c.915A>C (p.Pro305=)
3g.123325398G>ACA354218496ADCY5c.689C>T (p.Pro230Leu)
c.977C>T (p.Pro326Leu)
c.2012C>T (p.Pro671Leu)
n.271C>T
c.962C>T (p.Pro321Leu)
c.911C>T (p.Pro304Leu)
c.1013C>T (p.Pro338Leu)
c.923C>T (p.Pro308Leu)
c.914C>T (p.Pro305Leu)
3g.123325398G>CCA354218497ADCY5c.689C>G (p.Pro230Arg)
c.977C>G (p.Pro326Arg)
c.2012C>G (p.Pro671Arg)
n.271C>G
c.962C>G (p.Pro321Arg)
c.911C>G (p.Pro304Arg)
c.1013C>G (p.Pro338Arg)
c.923C>G (p.Pro308Arg)
c.914C>G (p.Pro305Arg)
3g.123325398G>TCA354218498ADCY5c.689C>A (p.Pro230Gln)
c.977C>A (p.Pro326Gln)
c.2012C>A (p.Pro671Gln)
n.271C>A
c.962C>A (p.Pro321Gln)
c.911C>A (p.Pro304Gln)
c.1013C>A (p.Pro338Gln)
c.923C>A (p.Pro308Gln)
c.914C>A (p.Pro305Gln)
3g.123325399G>ACA354218499ADCY5c.688C>T (p.Pro230Ser)
c.976C>T (p.Pro326Ser)
c.2011C>T (p.Pro671Ser)
n.270C>T
c.961C>T (p.Pro321Ser)
c.910C>T (p.Pro304Ser)
c.1012C>T (p.Pro338Ser)
c.922C>T (p.Pro308Ser)
c.913C>T (p.Pro305Ser)
3g.123325399G>CCA354218500ADCY5c.688C>G (p.Pro230Ala)
c.976C>G (p.Pro326Ala)
c.2011C>G (p.Pro671Ala)
n.270C>G
c.961C>G (p.Pro321Ala)
c.910C>G (p.Pro304Ala)
c.1012C>G (p.Pro338Ala)
c.922C>G (p.Pro308Ala)
c.913C>G (p.Pro305Ala)
3g.123325399G>TCA354218501ADCY5c.688C>A (p.Pro230Thr)
c.976C>A (p.Pro326Thr)
c.2011C>A (p.Pro671Thr)
n.270C>A
c.961C>A (p.Pro321Thr)
c.910C>A (p.Pro304Thr)
c.1012C>A (p.Pro338Thr)
c.922C>A (p.Pro308Thr)
c.913C>A (p.Pro305Thr)
3g.123325400G>ACA82899314ADCY5c.687C>T (p.Asn229=)
c.975C>T (p.Asn325=)
c.2010C>T (p.Asn670=)
n.269C>T
c.960C>T (p.Asn320=)
c.909C>T (p.Asn303=)
c.1011C>T (p.Asn337=)
c.921C>T (p.Asn307=)
c.912C>T (p.Asn304=)
 dbSNP gnomAD v4
3g.123325400G>CCA354218502ADCY5c.687C>G (p.Asn229Lys)
c.975C>G (p.Asn325Lys)
c.2010C>G (p.Asn670Lys)
n.269C>G
c.960C>G (p.Asn320Lys)
c.909C>G (p.Asn303Lys)
c.1011C>G (p.Asn337Lys)
c.921C>G (p.Asn307Lys)
c.912C>G (p.Asn304Lys)
3g.123325400G=CA1398346263ADCY5c.687C= (p.Asn229=)
c.975C= (p.Asn325=)
c.2010C= (p.Asn670=)
n.269C=
c.960C= (p.Asn320=)
c.909C= (p.Asn303=)
c.1011C= (p.Asn337=)
c.921C= (p.Asn307=)
c.912C= (p.Asn304=)
3g.123325400G>TCA354218503ADCY5c.687C>A (p.Asn229Lys)
c.975C>A (p.Asn325Lys)
c.2010C>A (p.Asn670Lys)
n.269C>A
c.960C>A (p.Asn320Lys)
c.909C>A (p.Asn303Lys)
c.1011C>A (p.Asn337Lys)
c.921C>A (p.Asn307Lys)
c.912C>A (p.Asn304Lys)
 gnomAD v4
3g.123325401T>ACA354218506ADCY5c.686A>T (p.Asn229Ile)
c.974A>T (p.Asn325Ile)
c.2009A>T (p.Asn670Ile)
n.268A>T
c.959A>T (p.Asn320Ile)
c.908A>T (p.Asn303Ile)
c.1010A>T (p.Asn337Ile)
c.920A>T (p.Asn307Ile)
c.911A>T (p.Asn304Ile)
3g.123325401T>CCA354218505ADCY5c.686A>G (p.Asn229Ser)
c.974A>G (p.Asn325Ser)
c.2009A>G (p.Asn670Ser)
n.268A>G
c.959A>G (p.Asn320Ser)
c.908A>G (p.Asn303Ser)
c.1010A>G (p.Asn337Ser)
c.920A>G (p.Asn307Ser)
c.911A>G (p.Asn304Ser)
3g.123325401T>GCA354218504ADCY5c.686A>C (p.Asn229Thr)
c.974A>C (p.Asn325Thr)
c.2009A>C (p.Asn670Thr)
n.268A>C
c.959A>C (p.Asn320Thr)
c.908A>C (p.Asn303Thr)
c.1010A>C (p.Asn337Thr)
c.920A>C (p.Asn307Thr)
c.911A>C (p.Asn304Thr)
3g.123325402T>ACA354218507ADCY5c.685A>T (p.Asn229Tyr)
c.973A>T (p.Asn325Tyr)
c.2008A>T (p.Asn670Tyr)
n.267A>T
c.958A>T (p.Asn320Tyr)
c.907A>T (p.Asn303Tyr)
c.1009A>T (p.Asn337Tyr)
c.919A>T (p.Asn307Tyr)
c.910A>T (p.Asn304Tyr)
3g.123325402T>CCA354218508ADCY5c.685A>G (p.Asn229Asp)
c.973A>G (p.Asn325Asp)
c.2008A>G (p.Asn670Asp)
n.267A>G
c.958A>G (p.Asn320Asp)
c.907A>G (p.Asn303Asp)
c.1009A>G (p.Asn337Asp)
c.919A>G (p.Asn307Asp)
c.910A>G (p.Asn304Asp)
3g.123325402T>GCA354218509ADCY5c.685A>C (p.Asn229His)
c.973A>C (p.Asn325His)
c.2008A>C (p.Asn670His)
n.267A>C
c.958A>C (p.Asn320His)
c.907A>C (p.Asn303His)
c.1009A>C (p.Asn337His)
c.919A>C (p.Asn307His)
c.910A>C (p.Asn304His)
3g.123325403G>ACA435293368ADCY5c.684C>T (p.His228=)
c.972C>T (p.His324=)
c.2007C>T (p.His669=)
n.266C>T
c.957C>T (p.His319=)
c.906C>T (p.His302=)
c.1008C>T (p.His336=)
c.918C>T (p.His306=)
c.909C>T (p.His303=)
3g.123325403G>CCA354218510ADCY5c.684C>G (p.His228Gln)
c.972C>G (p.His324Gln)
c.2007C>G (p.His669Gln)
n.266C>G
c.957C>G (p.His319Gln)
c.906C>G (p.His302Gln)
c.1008C>G (p.His336Gln)
c.918C>G (p.His306Gln)
c.909C>G (p.His303Gln)
 gnomAD v4
3g.123325403G>TCA354218511ADCY5c.684C>A (p.His228Gln)
c.972C>A (p.His324Gln)
c.2007C>A (p.His669Gln)
n.266C>A
c.957C>A (p.His319Gln)
c.906C>A (p.His302Gln)
c.1008C>A (p.His336Gln)
c.918C>A (p.His306Gln)
c.909C>A (p.His303Gln)
 gnomAD v4
3g.123325404T>ACA354218512ADCY5c.683A>T (p.His228Leu)
c.971A>T (p.His324Leu)
c.2006A>T (p.His669Leu)
n.265A>T
c.956A>T (p.His319Leu)
c.905A>T (p.His302Leu)
c.1007A>T (p.His336Leu)
c.917A>T (p.His306Leu)
c.908A>T (p.His303Leu)
3g.123325404T>CCA354218513ADCY5c.683A>G (p.His228Arg)
c.971A>G (p.His324Arg)
c.2006A>G (p.His669Arg)
n.265A>G
c.956A>G (p.His319Arg)
c.905A>G (p.His302Arg)
c.1007A>G (p.His336Arg)
c.917A>G (p.His306Arg)
c.908A>G (p.His303Arg)
3g.123325404T>GCA354218514ADCY5c.683A>C (p.His228Pro)
c.971A>C (p.His324Pro)
c.2006A>C (p.His669Pro)
n.265A>C
c.956A>C (p.His319Pro)
c.905A>C (p.His302Pro)
c.1007A>C (p.His336Pro)
c.917A>C (p.His306Pro)
c.908A>C (p.His303Pro)
3g.123325405G>ACA354218515ADCY5c.682C>T (p.His228Tyr)
c.970C>T (p.His324Tyr)
c.2005C>T (p.His669Tyr)
n.264C>T
c.955C>T (p.His319Tyr)
c.904C>T (p.His302Tyr)
c.1006C>T (p.His336Tyr)
c.916C>T (p.His306Tyr)
c.907C>T (p.His303Tyr)
 gnomAD v4 COSMIC
3g.123325405G>CCA354218516ADCY5c.682C>G (p.His228Asp)
c.970C>G (p.His324Asp)
c.2005C>G (p.His669Asp)
n.264C>G
c.955C>G (p.His319Asp)
c.904C>G (p.His302Asp)
c.1006C>G (p.His336Asp)
c.916C>G (p.His306Asp)
c.907C>G (p.His303Asp)
3g.123325405G>TCA354218517ADCY5c.682C>A (p.His228Asn)
c.970C>A (p.His324Asn)
c.2005C>A (p.His669Asn)
n.264C>A
c.955C>A (p.His319Asn)
c.904C>A (p.His302Asn)
c.1006C>A (p.His336Asn)
c.916C>A (p.His306Asn)
c.907C>A (p.His303Asn)
3g.123325406C>ACA435293369ADCY5c.681G>T (p.Gly227=)
c.969G>T (p.Gly323=)
c.2004G>T (p.Gly668=)
n.263G>T
c.954G>T (p.Gly318=)
c.903G>T (p.Gly301=)
c.1005G>T (p.Gly335=)
c.915G>T (p.Gly305=)
c.906G>T (p.Gly302=)
 gnomAD v4
3g.123325406C>GCA435293370ADCY5c.681G>C (p.Gly227=)
c.969G>C (p.Gly323=)
c.2004G>C (p.Gly668=)
n.263G>C
c.954G>C (p.Gly318=)
c.903G>C (p.Gly301=)
c.1005G>C (p.Gly335=)
c.915G>C (p.Gly305=)
c.906G>C (p.Gly302=)
3g.123325406C>TCA435293371ADCY5c.681G>A (p.Gly227=)
c.969G>A (p.Gly323=)
c.2004G>A (p.Gly668=)
n.263G>A
c.954G>A (p.Gly318=)
c.903G>A (p.Gly301=)
c.1005G>A (p.Gly335=)
c.915G>A (p.Gly305=)
c.906G>A (p.Gly302=)
3g.123325407C>ACA354218520ADCY5c.680G>T (p.Gly227Val)
c.968G>T (p.Gly323Val)
c.2003G>T (p.Gly668Val)
n.262G>T
c.953G>T (p.Gly318Val)
c.902G>T (p.Gly301Val)
c.1004G>T (p.Gly335Val)
c.914G>T (p.Gly305Val)
c.905G>T (p.Gly302Val)
3g.123325407C>GCA354218519ADCY5c.680G>C (p.Gly227Ala)
c.968G>C (p.Gly323Ala)
c.2003G>C (p.Gly668Ala)
n.262G>C
c.953G>C (p.Gly318Ala)
c.902G>C (p.Gly301Ala)
c.1004G>C (p.Gly335Ala)
c.914G>C (p.Gly305Ala)
c.905G>C (p.Gly302Ala)
3g.123325407C>TCA354218518ADCY5c.680G>A (p.Gly227Glu)
c.968G>A (p.Gly323Glu)
c.2003G>A (p.Gly668Glu)
n.262G>A
c.953G>A (p.Gly318Glu)
c.902G>A (p.Gly301Glu)
c.1004G>A (p.Gly335Glu)
c.914G>A (p.Gly305Glu)
c.905G>A (p.Gly302Glu)
3g.123325408C>ACA354218521ADCY5c.679G>T (p.Gly227Trp)
c.967G>T (p.Gly323Trp)
c.2002G>T (p.Gly668Trp)
n.261G>T
c.952G>T (p.Gly318Trp)
c.901G>T (p.Gly301Trp)
c.1003G>T (p.Gly335Trp)
c.913G>T (p.Gly305Trp)
c.904G>T (p.Gly302Trp)
3g.123325408C=CA1398346264ADCY5c.679G= (p.Gly227=)
c.967G= (p.Gly323=)
c.2002G= (p.Gly668=)
n.261G=
c.952G= (p.Gly318=)
c.901G= (p.Gly301=)
c.1003G= (p.Gly335=)
c.913G= (p.Gly305=)
c.904G= (p.Gly302=)
3g.123325408C>GCA354218523ADCY5c.679G>C (p.Gly227Arg)
c.967G>C (p.Gly323Arg)
c.2002G>C (p.Gly668Arg)
n.261G>C
c.952G>C (p.Gly318Arg)
c.901G>C (p.Gly301Arg)
c.1003G>C (p.Gly335Arg)
c.913G>C (p.Gly305Arg)
c.904G>C (p.Gly302Arg)
3g.123325408C>TCA354218522ADCY5c.679G>A (p.Gly227Arg)
c.967G>A (p.Gly323Arg)
c.2002G>A (p.Gly668Arg)
n.261G>A
c.952G>A (p.Gly318Arg)
c.901G>A (p.Gly301Arg)
c.1003G>A (p.Gly335Arg)
c.913G>A (p.Gly305Arg)
c.904G>A (p.Gly302Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.123325409G>ACA2577287ADCY5c.678C>T (p.Ile226=)
c.966C>T (p.Ile322=)
c.2001C>T (p.Ile667=)
n.260C>T
c.951C>T (p.Ile317=)
c.900C>T (p.Ile300=)
c.1002C>T (p.Ile334=)
c.912C>T (p.Ile304=)
c.903C>T (p.Ile301=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325409G>CCA354218524ADCY5c.678C>G (p.Ile226Met)
c.966C>G (p.Ile322Met)
c.2001C>G (p.Ile667Met)
n.260C>G
c.951C>G (p.Ile317Met)
c.900C>G (p.Ile300Met)
c.1002C>G (p.Ile334Met)
c.912C>G (p.Ile304Met)
c.903C>G (p.Ile301Met)
3g.123325409G=CA1398346265ADCY5c.678C= (p.Ile226=)
c.966C= (p.Ile322=)
c.2001C= (p.Ile667=)
n.260C=
c.951C= (p.Ile317=)
c.900C= (p.Ile300=)
c.1002C= (p.Ile334=)
c.912C= (p.Ile304=)
c.903C= (p.Ile301=)
3g.123325409G>TCA435293372ADCY5c.678C>A (p.Ile226=)
c.966C>A (p.Ile322=)
c.2001C>A (p.Ile667=)
n.260C>A
c.951C>A (p.Ile317=)
c.900C>A (p.Ile300=)
c.1002C>A (p.Ile334=)
c.912C>A (p.Ile304=)
c.903C>A (p.Ile301=)
3g.123325410A=CA1398346266ADCY5c.677T= (p.Ile226=)
c.965T= (p.Ile322=)
c.2000T= (p.Ile667=)
n.259T=
c.950T= (p.Ile317=)
c.899T= (p.Ile300=)
c.1001T= (p.Ile334=)
c.911T= (p.Ile304=)
c.902T= (p.Ile301=)
3g.123325410A>CCA354218525ADCY5c.677T>G (p.Ile226Ser)
c.965T>G (p.Ile322Ser)
c.2000T>G (p.Ile667Ser)
n.259T>G
c.950T>G (p.Ile317Ser)
c.899T>G (p.Ile300Ser)
c.1001T>G (p.Ile334Ser)
c.911T>G (p.Ile304Ser)
c.902T>G (p.Ile301Ser)
3g.123325410A>GCA354218526ADCY5c.677T>C (p.Ile226Thr)
c.965T>C (p.Ile322Thr)
c.2000T>C (p.Ile667Thr)
n.259T>C
c.950T>C (p.Ile317Thr)
c.899T>C (p.Ile300Thr)
c.1001T>C (p.Ile334Thr)
c.911T>C (p.Ile304Thr)
c.902T>C (p.Ile301Thr)
3g.123325410A>TCA16604356ADCY5c.677T>A (p.Ile226Asn)
c.965T>A (p.Ile322Asn)
c.2000T>A (p.Ile667Asn)
n.259T>A
c.950T>A (p.Ile317Asn)
c.899T>A (p.Ile300Asn)
c.1001T>A (p.Ile334Asn)
c.911T>A (p.Ile304Asn)
c.902T>A (p.Ile301Asn)
 ClinVar dbSNP gnomAD v4
3g.123325411T>ACA354218527ADCY5c.676A>T (p.Ile226Phe)
c.964A>T (p.Ile322Phe)
c.1999A>T (p.Ile667Phe)
n.258A>T
c.949A>T (p.Ile317Phe)
c.898A>T (p.Ile300Phe)
c.1000A>T (p.Ile334Phe)
c.910A>T (p.Ile304Phe)
c.901A>T (p.Ile301Phe)
3g.123325411T>CCA354218528ADCY5c.676A>G (p.Ile226Val)
c.964A>G (p.Ile322Val)
c.1999A>G (p.Ile667Val)
n.258A>G
c.949A>G (p.Ile317Val)
c.898A>G (p.Ile300Val)
c.1000A>G (p.Ile334Val)
c.910A>G (p.Ile304Val)
c.901A>G (p.Ile301Val)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.123325411T>GCA354218529ADCY5c.676A>C (p.Ile226Leu)
c.964A>C (p.Ile322Leu)
c.1999A>C (p.Ile667Leu)
n.258A>C
c.949A>C (p.Ile317Leu)
c.898A>C (p.Ile300Leu)
c.1000A>C (p.Ile334Leu)
c.910A>C (p.Ile304Leu)
c.901A>C (p.Ile301Leu)
3g.123325411T=CA1398346267ADCY5c.676A= (p.Ile226=)
c.964A= (p.Ile322=)
c.1999A= (p.Ile667=)
n.258A=
c.949A= (p.Ile317=)
c.898A= (p.Ile300=)
c.1000A= (p.Ile334=)
c.910A= (p.Ile304=)
c.901A= (p.Ile301=)
3g.123325412G>ACA2577288ADCY5c.675C>T (p.Ser225=)
c.963C>T (p.Ser321=)
c.1998C>T (p.Ser666=)
n.257C>T
c.948C>T (p.Ser316=)
c.897C>T (p.Ser299=)
c.999C>T (p.Ser333=)
c.909C>T (p.Ser303=)
c.900C>T (p.Ser300=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123325412G>CCA435293373ADCY5c.675C>G (p.Ser225=)
c.963C>G (p.Ser321=)
c.1998C>G (p.Ser666=)
n.257C>G
c.948C>G (p.Ser316=)
c.897C>G (p.Ser299=)
c.999C>G (p.Ser333=)
c.909C>G (p.Ser303=)
c.900C>G (p.Ser300=)
3g.123325412G=CA1398346268ADCY5c.675C= (p.Ser225=)
c.963C= (p.Ser321=)
c.1998C= (p.Ser666=)
n.257C=
c.948C= (p.Ser316=)
c.897C= (p.Ser299=)
c.999C= (p.Ser333=)
c.909C= (p.Ser303=)
c.900C= (p.Ser300=)
3g.123325412G>TCA435293374ADCY5c.675C>A (p.Ser225=)
c.963C>A (p.Ser321=)
c.1998C>A (p.Ser666=)
n.257C>A
c.948C>A (p.Ser316=)
c.897C>A (p.Ser299=)
c.999C>A (p.Ser333=)
c.909C>A (p.Ser303=)
c.900C>A (p.Ser300=)
3g.123325413G>ACA354218530ADCY5c.674C>T (p.Ser225Phe)
c.962C>T (p.Ser321Phe)
c.1997C>T (p.Ser666Phe)
n.256C>T
c.947C>T (p.Ser316Phe)
c.896C>T (p.Ser299Phe)
c.998C>T (p.Ser333Phe)
c.908C>T (p.Ser303Phe)
c.899C>T (p.Ser300Phe)
 COSMIC
3g.123325413G>CCA354218531ADCY5c.674C>G (p.Ser225Cys)
c.962C>G (p.Ser321Cys)
c.1997C>G (p.Ser666Cys)
n.256C>G
c.947C>G (p.Ser316Cys)
c.896C>G (p.Ser299Cys)
c.998C>G (p.Ser333Cys)
c.908C>G (p.Ser303Cys)
c.899C>G (p.Ser300Cys)
3g.123325413G>TCA354218532ADCY5c.674C>A (p.Ser225Tyr)
c.962C>A (p.Ser321Tyr)
c.1997C>A (p.Ser666Tyr)
n.256C>A
c.947C>A (p.Ser316Tyr)
c.896C>A (p.Ser299Tyr)
c.998C>A (p.Ser333Tyr)
c.908C>A (p.Ser303Tyr)
c.899C>A (p.Ser300Tyr)
3g.123325414A>CCA354218533ADCY5c.673T>G (p.Ser225Ala)
c.961T>G (p.Ser321Ala)
c.1996T>G (p.Ser666Ala)
n.255T>G
c.946T>G (p.Ser316Ala)
c.895T>G (p.Ser299Ala)
c.997T>G (p.Ser333Ala)
c.907T>G (p.Ser303Ala)
c.898T>G (p.Ser300Ala)
3g.123325414A>GCA354218535ADCY5c.673T>C (p.Ser225Pro)
c.961T>C (p.Ser321Pro)
c.1996T>C (p.Ser666Pro)
n.255T>C
c.946T>C (p.Ser316Pro)
c.895T>C (p.Ser299Pro)
c.997T>C (p.Ser333Pro)
c.907T>C (p.Ser303Pro)
c.898T>C (p.Ser300Pro)
3g.123325414A>TCA354218534ADCY5c.673T>A (p.Ser225Thr)
c.961T>A (p.Ser321Thr)
c.1996T>A (p.Ser666Thr)
n.255T>A
c.946T>A (p.Ser316Thr)
c.895T>A (p.Ser299Thr)
c.997T>A (p.Ser333Thr)
c.907T>A (p.Ser303Thr)
c.898T>A (p.Ser300Thr)
3g.123325415G>ACA2577289ADCY5c.672C>T (p.Asn224=)
c.960C>T (p.Asn320=)
c.1995C>T (p.Asn665=)
n.254C>T
c.945C>T (p.Asn315=)
c.894C>T (p.Asn298=)
c.996C>T (p.Asn332=)
c.906C>T (p.Asn302=)
c.897C>T (p.Asn299=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325415G>CCA354218536ADCY5c.672C>G (p.Asn224Lys)
c.960C>G (p.Asn320Lys)
c.1995C>G (p.Asn665Lys)
n.254C>G
c.945C>G (p.Asn315Lys)
c.894C>G (p.Asn298Lys)
c.996C>G (p.Asn332Lys)
c.906C>G (p.Asn302Lys)
c.897C>G (p.Asn299Lys)
3g.123325415G=CA1398346269ADCY5c.672C= (p.Asn224=)
c.960C= (p.Asn320=)
c.1995C= (p.Asn665=)
n.254C=
c.945C= (p.Asn315=)
c.894C= (p.Asn298=)
c.996C= (p.Asn332=)
c.906C= (p.Asn302=)
c.897C= (p.Asn299=)
3g.123325415G>TCA354218537ADCY5c.672C>A (p.Asn224Lys)
c.960C>A (p.Asn320Lys)
c.1995C>A (p.Asn665Lys)
n.254C>A
c.945C>A (p.Asn315Lys)
c.894C>A (p.Asn298Lys)
c.996C>A (p.Asn332Lys)
c.906C>A (p.Asn302Lys)
c.897C>A (p.Asn299Lys)
3g.123325416T>ACA354218538ADCY5c.671A>T (p.Asn224Ile)
c.959A>T (p.Asn320Ile)
c.1994A>T (p.Asn665Ile)
n.253A>T
c.944A>T (p.Asn315Ile)
c.893A>T (p.Asn298Ile)
c.995A>T (p.Asn332Ile)
c.905A>T (p.Asn302Ile)
c.896A>T (p.Asn299Ile)
3g.123325416T>CCA354218539ADCY5c.671A>G (p.Asn224Ser)
c.959A>G (p.Asn320Ser)
c.1994A>G (p.Asn665Ser)
n.253A>G
c.944A>G (p.Asn315Ser)
c.893A>G (p.Asn298Ser)
c.995A>G (p.Asn332Ser)
c.905A>G (p.Asn302Ser)
c.896A>G (p.Asn299Ser)
 gnomAD v4
3g.123325416T>GCA354218540ADCY5c.671A>C (p.Asn224Thr)
c.959A>C (p.Asn320Thr)
c.1994A>C (p.Asn665Thr)
n.253A>C
c.944A>C (p.Asn315Thr)
c.893A>C (p.Asn298Thr)
c.995A>C (p.Asn332Thr)
c.905A>C (p.Asn302Thr)
c.896A>C (p.Asn299Thr)
3g.123325417T>ACA354218541ADCY5c.670A>T (p.Asn224Tyr)
c.958A>T (p.Asn320Tyr)
c.1993A>T (p.Asn665Tyr)
n.252A>T
c.943A>T (p.Asn315Tyr)
c.892A>T (p.Asn298Tyr)
c.994A>T (p.Asn332Tyr)
c.904A>T (p.Asn302Tyr)
c.895A>T (p.Asn299Tyr)
3g.123325417T>CCA354218542ADCY5c.670A>G (p.Asn224Asp)
c.958A>G (p.Asn320Asp)
c.1993A>G (p.Asn665Asp)
n.252A>G
c.943A>G (p.Asn315Asp)
c.892A>G (p.Asn298Asp)
c.994A>G (p.Asn332Asp)
c.904A>G (p.Asn302Asp)
c.895A>G (p.Asn299Asp)
 dbSNP gnomAD v3 gnomAD v4
3g.123325417T>GCA354218543ADCY5c.670A>C (p.Asn224His)
c.958A>C (p.Asn320His)
c.1993A>C (p.Asn665His)
n.252A>C
c.943A>C (p.Asn315His)
c.892A>C (p.Asn298His)
c.994A>C (p.Asn332His)
c.904A>C (p.Asn302His)
c.895A>C (p.Asn299His)
3g.123325417T=CA1398346270ADCY5c.670A= (p.Asn224=)
c.958A= (p.Asn320=)
c.1993A= (p.Asn665=)
n.252A=
c.943A= (p.Asn315=)
c.892A= (p.Asn298=)
c.994A= (p.Asn332=)
c.904A= (p.Asn302=)
c.895A= (p.Asn299=)
3g.123325418G>ACA435293377ADCY5c.669C>T (p.Thr223=)
c.957C>T (p.Thr319=)
c.1992C>T (p.Thr664=)
n.251C>T
c.942C>T (p.Thr314=)
c.891C>T (p.Thr297=)
c.993C>T (p.Thr331=)
c.903C>T (p.Thr301=)
c.894C>T (p.Thr298=)
3g.123325418G>CCA435293375ADCY5c.669C>G (p.Thr223=)
c.957C>G (p.Thr319=)
c.1992C>G (p.Thr664=)
n.251C>G
c.942C>G (p.Thr314=)
c.891C>G (p.Thr297=)
c.993C>G (p.Thr331=)
c.903C>G (p.Thr301=)
c.894C>G (p.Thr298=)
3g.123325418G>TCA435293376ADCY5c.669C>A (p.Thr223=)
c.957C>A (p.Thr319=)
c.1992C>A (p.Thr664=)
n.251C>A
c.942C>A (p.Thr314=)
c.891C>A (p.Thr297=)
c.993C>A (p.Thr331=)
c.903C>A (p.Thr301=)
c.894C>A (p.Thr298=)
3g.123325419G>ACA354218545ADCY5c.668C>T (p.Thr223Ile)
c.956C>T (p.Thr319Ile)
c.1991C>T (p.Thr664Ile)
n.250C>T
c.941C>T (p.Thr314Ile)
c.890C>T (p.Thr297Ile)
c.992C>T (p.Thr331Ile)
c.902C>T (p.Thr301Ile)
c.893C>T (p.Thr298Ile)
3g.123325419G>CCA354218546ADCY5c.668C>G (p.Thr223Ser)
c.956C>G (p.Thr319Ser)
c.1991C>G (p.Thr664Ser)
n.250C>G
c.941C>G (p.Thr314Ser)
c.890C>G (p.Thr297Ser)
c.992C>G (p.Thr331Ser)
c.902C>G (p.Thr301Ser)
c.893C>G (p.Thr298Ser)
3g.123325419G>TCA354218544ADCY5c.668C>A (p.Thr223Asn)
c.956C>A (p.Thr319Asn)
c.1991C>A (p.Thr664Asn)
n.250C>A
c.941C>A (p.Thr314Asn)
c.890C>A (p.Thr297Asn)
c.992C>A (p.Thr331Asn)
c.902C>A (p.Thr301Asn)
c.893C>A (p.Thr298Asn)
3g.123325420T>ACA354218547ADCY5c.667A>T (p.Thr223Ser)
c.955A>T (p.Thr319Ser)
c.1990A>T (p.Thr664Ser)
n.249A>T
c.940A>T (p.Thr314Ser)
c.889A>T (p.Thr297Ser)
c.991A>T (p.Thr331Ser)
c.901A>T (p.Thr301Ser)
c.892A>T (p.Thr298Ser)
3g.123325420T>CCA354218548ADCY5c.667A>G (p.Thr223Ala)
c.955A>G (p.Thr319Ala)
c.1990A>G (p.Thr664Ala)
n.249A>G
c.940A>G (p.Thr314Ala)
c.889A>G (p.Thr297Ala)
c.991A>G (p.Thr331Ala)
c.901A>G (p.Thr301Ala)
c.892A>G (p.Thr298Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.123325420T>GCA354218549ADCY5c.667A>C (p.Thr223Pro)
c.955A>C (p.Thr319Pro)
c.1990A>C (p.Thr664Pro)
n.249A>C
c.940A>C (p.Thr314Pro)
c.889A>C (p.Thr297Pro)
c.991A>C (p.Thr331Pro)
c.901A>C (p.Thr301Pro)
c.892A>C (p.Thr298Pro)
3g.123325420T=CA1398346271ADCY5c.667A= (p.Thr223=)
c.955A= (p.Thr319=)
c.1990A= (p.Thr664=)
n.249A=
c.940A= (p.Thr314=)
c.889A= (p.Thr297=)
c.991A= (p.Thr331=)
c.901A= (p.Thr301=)
c.892A= (p.Thr298=)
3g.123325421T>ACA354218550ADCY5c.666A>T (p.Arg222Ser)
c.954A>T (p.Arg318Ser)
c.1989A>T (p.Arg663Ser)
n.248A>T
c.939A>T (p.Arg313Ser)
c.888A>T (p.Arg296Ser)
c.990A>T (p.Arg330Ser)
c.900A>T (p.Arg300Ser)
c.891A>T (p.Arg297Ser)
3g.123325421T>CCA435293378ADCY5c.666A>G (p.Arg222=)
c.954A>G (p.Arg318=)
c.1989A>G (p.Arg663=)
n.248A>G
c.939A>G (p.Arg313=)
c.888A>G (p.Arg296=)
c.990A>G (p.Arg330=)
c.900A>G (p.Arg300=)
c.891A>G (p.Arg297=)
3g.123325421T>GCA354218551ADCY5c.666A>C (p.Arg222Ser)
c.954A>C (p.Arg318Ser)
c.1989A>C (p.Arg663Ser)
n.248A>C
c.939A>C (p.Arg313Ser)
c.888A>C (p.Arg296Ser)
c.990A>C (p.Arg330Ser)
c.900A>C (p.Arg300Ser)
c.891A>C (p.Arg297Ser)
3g.123325422C>ACA354218552ADCY5c.665G>T (p.Arg222Ile)
c.953G>T (p.Arg318Ile)
c.1988G>T (p.Arg663Ile)
n.247G>T
c.938G>T (p.Arg313Ile)
c.887G>T (p.Arg296Ile)
c.989G>T (p.Arg330Ile)
c.899G>T (p.Arg300Ile)
c.890G>T (p.Arg297Ile)
 COSMIC
3g.123325422C=CA1398346272ADCY5c.665G= (p.Arg222=)
c.953G= (p.Arg318=)
c.1988G= (p.Arg663=)
n.247G=
c.938G= (p.Arg313=)
c.887G= (p.Arg296=)
c.989G= (p.Arg330=)
c.899G= (p.Arg300=)
c.890G= (p.Arg297=)
3g.123325422C>GCA82899335ADCY5c.665G>C (p.Arg222Thr)
c.953G>C (p.Arg318Thr)
c.1988G>C (p.Arg663Thr)
n.247G>C
c.938G>C (p.Arg313Thr)
c.887G>C (p.Arg296Thr)
c.989G>C (p.Arg330Thr)
c.899G>C (p.Arg300Thr)
c.890G>C (p.Arg297Thr)
 dbSNP gnomAD v3 gnomAD v4
3g.123325422C>TCA82899338ADCY5c.665G>A (p.Arg222Lys)
c.953G>A (p.Arg318Lys)
c.1988G>A (p.Arg663Lys)
n.247G>A
c.938G>A (p.Arg313Lys)
c.887G>A (p.Arg296Lys)
c.989G>A (p.Arg330Lys)
c.899G>A (p.Arg300Lys)
c.890G>A (p.Arg297Lys)
 dbSNP gnomAD v4
3g.123325423T>ACA354218553ADCY5c.664A>T (p.Arg222Ter)
c.952A>T (p.Arg318Ter)
c.1987A>T (p.Arg663Ter)
n.246A>T
c.937A>T (p.Arg313Ter)
c.886A>T (p.Arg296Ter)
c.988A>T (p.Arg330Ter)
c.898A>T (p.Arg300Ter)
c.889A>T (p.Arg297Ter)
 dbSNP
3g.123325423T>CCA354218554ADCY5c.664A>G (p.Arg222Gly)
c.952A>G (p.Arg318Gly)
c.1987A>G (p.Arg663Gly)
n.246A>G
c.937A>G (p.Arg313Gly)
c.886A>G (p.Arg296Gly)
c.988A>G (p.Arg330Gly)
c.898A>G (p.Arg300Gly)
c.889A>G (p.Arg297Gly)
3g.123325423T>GCA435293379ADCY5c.664A>C (p.Arg222=)
c.952A>C (p.Arg318=)
c.1987A>C (p.Arg663=)
n.246A>C
c.937A>C (p.Arg313=)
c.886A>C (p.Arg296=)
c.988A>C (p.Arg330=)
c.898A>C (p.Arg300=)
c.889A>C (p.Arg297=)
 ClinVar
3g.123325423T=CA1398346273ADCY5c.664A= (p.Arg222=)
c.952A= (p.Arg318=)
c.1987A= (p.Arg663=)
n.246A=
c.937A= (p.Arg313=)
c.886A= (p.Arg296=)
c.988A= (p.Arg330=)
c.898A= (p.Arg300=)
c.889A= (p.Arg297=)
3g.123325424C>ACA354218555ADCY5c.663G>T (p.Gln221His)
c.951G>T (p.Gln317His)
c.1986G>T (p.Gln662His)
n.245G>T
c.936G>T (p.Gln312His)
c.885G>T (p.Gln295His)
c.987G>T (p.Gln329His)
c.897G>T (p.Gln299His)
c.888G>T (p.Gln296His)
3g.123325424C>GCA354218556ADCY5c.663G>C (p.Gln221His)
c.951G>C (p.Gln317His)
c.1986G>C (p.Gln662His)
n.245G>C
c.936G>C (p.Gln312His)
c.885G>C (p.Gln295His)
c.987G>C (p.Gln329His)
c.897G>C (p.Gln299His)
c.888G>C (p.Gln296His)
3g.123325424C>TCA435293380ADCY5c.663G>A (p.Gln221=)
c.951G>A (p.Gln317=)
c.1986G>A (p.Gln662=)
n.245G>A
c.936G>A (p.Gln312=)
c.885G>A (p.Gln295=)
c.987G>A (p.Gln329=)
c.897G>A (p.Gln299=)
c.888G>A (p.Gln296=)
3g.123325425T>ACA354218558ADCY5c.662A>T (p.Gln221Leu)
c.950A>T (p.Gln317Leu)
c.1985A>T (p.Gln662Leu)
n.244A>T
c.935A>T (p.Gln312Leu)
c.884A>T (p.Gln295Leu)
c.986A>T (p.Gln329Leu)
c.896A>T (p.Gln299Leu)
c.887A>T (p.Gln296Leu)
3g.123325425T>CCA354218559ADCY5c.662A>G (p.Gln221Arg)
c.950A>G (p.Gln317Arg)
c.1985A>G (p.Gln662Arg)
n.244A>G
c.935A>G (p.Gln312Arg)
c.884A>G (p.Gln295Arg)
c.986A>G (p.Gln329Arg)
c.896A>G (p.Gln299Arg)
c.887A>G (p.Gln296Arg)
3g.123325425T>GCA354218557ADCY5c.662A>C (p.Gln221Pro)
c.950A>C (p.Gln317Pro)
c.1985A>C (p.Gln662Pro)
n.244A>C
c.935A>C (p.Gln312Pro)
c.884A>C (p.Gln295Pro)
c.986A>C (p.Gln329Pro)
c.896A>C (p.Gln299Pro)
c.887A>C (p.Gln296Pro)
3g.123325426G>ACA354218560ADCY5c.661C>T (p.Gln221Ter)
c.949C>T (p.Gln317Ter)
c.1984C>T (p.Gln662Ter)
n.243C>T
c.934C>T (p.Gln312Ter)
c.883C>T (p.Gln295Ter)
c.985C>T (p.Gln329Ter)
c.895C>T (p.Gln299Ter)
c.886C>T (p.Gln296Ter)
 dbSNP
3g.123325426G>CCA354218561ADCY5c.661C>G (p.Gln221Glu)
c.949C>G (p.Gln317Glu)
c.1984C>G (p.Gln662Glu)
n.243C>G
c.934C>G (p.Gln312Glu)
c.883C>G (p.Gln295Glu)
c.985C>G (p.Gln329Glu)
c.895C>G (p.Gln299Glu)
c.886C>G (p.Gln296Glu)
3g.123325426G=CA1398346274ADCY5c.661C= (p.Gln221=)
c.949C= (p.Gln317=)
c.1984C= (p.Gln662=)
n.243C=
c.934C= (p.Gln312=)
c.883C= (p.Gln295=)
c.985C= (p.Gln329=)
c.895C= (p.Gln299=)
c.886C= (p.Gln296=)
3g.123325426G>TCA354218562ADCY5c.661C>A (p.Gln221Lys)
c.949C>A (p.Gln317Lys)
c.1984C>A (p.Gln662Lys)
n.243C>A
c.934C>A (p.Gln312Lys)
c.883C>A (p.Gln295Lys)
c.985C>A (p.Gln329Lys)
c.895C>A (p.Gln299Lys)
c.886C>A (p.Gln296Lys)
3g.123325427G>ACA435293381ADCY5c.660C>T (p.Arg220=)
c.948C>T (p.Arg316=)
c.1983C>T (p.Arg661=)
n.242C>T
c.933C>T (p.Arg311=)
c.882C>T (p.Arg294=)
c.984C>T (p.Arg328=)
c.894C>T (p.Arg298=)
c.885C>T (p.Arg295=)
 COSMIC
3g.123325427G>CCA435293382ADCY5c.660C>G (p.Arg220=)
c.948C>G (p.Arg316=)
c.1983C>G (p.Arg661=)
n.242C>G
c.933C>G (p.Arg311=)
c.882C>G (p.Arg294=)
c.984C>G (p.Arg328=)
c.894C>G (p.Arg298=)
c.885C>G (p.Arg295=)
3g.123325427G>TCA435293383ADCY5c.660C>A (p.Arg220=)
c.948C>A (p.Arg316=)
c.1983C>A (p.Arg661=)
n.242C>A
c.933C>A (p.Arg311=)
c.882C>A (p.Arg294=)
c.984C>A (p.Arg328=)
c.894C>A (p.Arg298=)
c.885C>A (p.Arg295=)
3g.123325428C>ACA354218563ADCY5c.659G>T (p.Arg220Leu)
c.947G>T (p.Arg316Leu)
c.1982G>T (p.Arg661Leu)
n.241G>T
c.932G>T (p.Arg311Leu)
c.881G>T (p.Arg294Leu)
c.983G>T (p.Arg328Leu)
c.893G>T (p.Arg298Leu)
c.884G>T (p.Arg295Leu)
 gnomAD v4
3g.123325428C=CA1398346275ADCY5c.659G= (p.Arg220=)
c.947G= (p.Arg316=)
c.1982G= (p.Arg661=)
n.241G=
c.932G= (p.Arg311=)
c.881G= (p.Arg294=)
c.983G= (p.Arg328=)
c.893G= (p.Arg298=)
c.884G= (p.Arg295=)
3g.123325428C>GCA354218564ADCY5c.659G>C (p.Arg220Pro)
c.947G>C (p.Arg316Pro)
c.1982G>C (p.Arg661Pro)
n.241G>C
c.932G>C (p.Arg311Pro)
c.881G>C (p.Arg294Pro)
c.983G>C (p.Arg328Pro)
c.893G>C (p.Arg298Pro)
c.884G>C (p.Arg295Pro)
3g.123325428C>TCA2577290ADCY5c.659G>A (p.Arg220His)
c.947G>A (p.Arg316His)
c.1982G>A (p.Arg661His)
n.241G>A
c.932G>A (p.Arg311His)
c.881G>A (p.Arg294His)
c.983G>A (p.Arg328His)
c.893G>A (p.Arg298His)
c.884G>A (p.Arg295His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123325429G>ACA2577291ADCY5c.658C>T (p.Arg220Cys)
c.946C>T (p.Arg316Cys)
c.1981C>T (p.Arg661Cys)
n.240C>T
c.931C>T (p.Arg311Cys)
c.880C>T (p.Arg294Cys)
c.982C>T (p.Arg328Cys)
c.892C>T (p.Arg298Cys)
c.883C>T (p.Arg295Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123325429G>CCA354218566ADCY5c.658C>G (p.Arg220Gly)
c.946C>G (p.Arg316Gly)
c.1981C>G (p.Arg661Gly)
n.240C>G
c.931C>G (p.Arg311Gly)
c.880C>G (p.Arg294Gly)
c.982C>G (p.Arg328Gly)
c.892C>G (p.Arg298Gly)
c.883C>G (p.Arg295Gly)
3g.123325429G=CA1398346276ADCY5c.658C= (p.Arg220=)
c.946C= (p.Arg316=)
c.1981C= (p.Arg661=)
n.240C=
c.931C= (p.Arg311=)
c.880C= (p.Arg294=)
c.982C= (p.Arg328=)
c.892C= (p.Arg298=)
c.883C= (p.Arg295=)
3g.123325429G>TCA354218565ADCY5c.658C>A (p.Arg220Ser)
c.946C>A (p.Arg316Ser)
c.1981C>A (p.Arg661Ser)
n.240C>A
c.931C>A (p.Arg311Ser)
c.880C>A (p.Arg294Ser)
c.982C>A (p.Arg328Ser)
c.892C>A (p.Arg298Ser)
c.883C>A (p.Arg295Ser)
3g.123325430G>ACA435293384ADCY5c.657C>T (p.Asn219=)
c.945C>T (p.Asn315=)
c.1980C>T (p.Asn660=)
n.239C>T
c.930C>T (p.Asn310=)
c.879C>T (p.Asn293=)
c.981C>T (p.Asn327=)
c.891C>T (p.Asn297=)
c.882C>T (p.Asn294=)
3g.123325430G>CCA354218567ADCY5c.657C>G (p.Asn219Lys)
c.945C>G (p.Asn315Lys)
c.1980C>G (p.Asn660Lys)
n.239C>G
c.930C>G (p.Asn310Lys)
c.879C>G (p.Asn293Lys)
c.981C>G (p.Asn327Lys)
c.891C>G (p.Asn297Lys)
c.882C>G (p.Asn294Lys)
3g.123325430G>TCA354218568ADCY5c.657C>A (p.Asn219Lys)
c.945C>A (p.Asn315Lys)
c.1980C>A (p.Asn660Lys)
n.239C>A
c.930C>A (p.Asn310Lys)
c.879C>A (p.Asn293Lys)
c.981C>A (p.Asn327Lys)
c.891C>A (p.Asn297Lys)
c.882C>A (p.Asn294Lys)
3g.123325431T>ACA354218569ADCY5c.656A>T (p.Asn219Ile)
c.944A>T (p.Asn315Ile)
c.1979A>T (p.Asn660Ile)
n.238A>T
c.929A>T (p.Asn310Ile)
c.878A>T (p.Asn293Ile)
c.980A>T (p.Asn327Ile)
c.890A>T (p.Asn297Ile)
c.881A>T (p.Asn294Ile)
3g.123325431T>CCA354218570ADCY5c.656A>G (p.Asn219Ser)
c.944A>G (p.Asn315Ser)
c.1979A>G (p.Asn660Ser)
n.238A>G
c.929A>G (p.Asn310Ser)
c.878A>G (p.Asn293Ser)
c.980A>G (p.Asn327Ser)
c.890A>G (p.Asn297Ser)
c.881A>G (p.Asn294Ser)
3g.123325431T>GCA354218571ADCY5c.656A>C (p.Asn219Thr)
c.944A>C (p.Asn315Thr)
c.1979A>C (p.Asn660Thr)
n.238A>C
c.929A>C (p.Asn310Thr)
c.878A>C (p.Asn293Thr)
c.980A>C (p.Asn327Thr)
c.890A>C (p.Asn297Thr)
c.881A>C (p.Asn294Thr)
 dbSNP
3g.123325431T=CA1398346277ADCY5c.656A= (p.Asn219=)
c.944A= (p.Asn315=)
c.1979A= (p.Asn660=)
n.238A=
c.929A= (p.Asn310=)
c.878A= (p.Asn293=)
c.980A= (p.Asn327=)
c.890A= (p.Asn297=)
c.881A= (p.Asn294=)
3g.123325432T>ACA354218573ADCY5c.655A>T (p.Asn219Tyr)
c.943A>T (p.Asn315Tyr)
c.1978A>T (p.Asn660Tyr)
n.237A>T
c.928A>T (p.Asn310Tyr)
c.877A>T (p.Asn293Tyr)
c.979A>T (p.Asn327Tyr)
c.889A>T (p.Asn297Tyr)
c.880A>T (p.Asn294Tyr)
 COSMIC
3g.123325432T>CCA354218574ADCY5c.655A>G (p.Asn219Asp)
c.943A>G (p.Asn315Asp)
c.1978A>G (p.Asn660Asp)
n.237A>G
c.928A>G (p.Asn310Asp)
c.877A>G (p.Asn293Asp)
c.979A>G (p.Asn327Asp)
c.889A>G (p.Asn297Asp)
c.880A>G (p.Asn294Asp)
3g.123325432T>GCA354218572ADCY5c.655A>C (p.Asn219His)
c.943A>C (p.Asn315His)
c.1978A>C (p.Asn660His)
n.237A>C
c.928A>C (p.Asn310His)
c.877A>C (p.Asn293His)
c.979A>C (p.Asn327His)
c.889A>C (p.Asn297His)
c.880A>C (p.Asn294His)
3g.123325433C>ACA354218576ADCY5c.654G>T (p.Met218Ile)
c.942G>T (p.Met314Ile)
c.1977G>T (p.Met659Ile)
n.236G>T
c.927G>T (p.Met309Ile)
c.876G>T (p.Met292Ile)
c.978G>T (p.Met326Ile)
c.888G>T (p.Met296Ile)
c.879G>T (p.Met293Ile)
3g.123325433C=CA1398346278ADCY5c.654G= (p.Met218=)
c.942G= (p.Met314=)
c.1977G= (p.Met659=)
n.236G=
c.927G= (p.Met309=)
c.876G= (p.Met292=)
c.978G= (p.Met326=)
c.888G= (p.Met296=)
c.879G= (p.Met293=)
3g.123325433C>GCA354218575ADCY5c.654G>C (p.Met218Ile)
c.942G>C (p.Met314Ile)
c.1977G>C (p.Met659Ile)
n.236G>C
c.927G>C (p.Met309Ile)
c.876G>C (p.Met292Ile)
c.978G>C (p.Met326Ile)
c.888G>C (p.Met296Ile)
c.879G>C (p.Met293Ile)
3g.123325433C>TCA82899348ADCY5c.654G>A (p.Met218Ile)
c.942G>A (p.Met314Ile)
c.1977G>A (p.Met659Ile)
n.236G>A
c.927G>A (p.Met309Ile)
c.876G>A (p.Met292Ile)
c.978G>A (p.Met326Ile)
c.888G>A (p.Met296Ile)
c.879G>A (p.Met293Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123325434A>CCA354218577ADCY5c.653T>G (p.Met218Arg)
c.941T>G (p.Met314Arg)
c.1976T>G (p.Met659Arg)
n.235T>G
c.926T>G (p.Met309Arg)
c.875T>G (p.Met292Arg)
c.977T>G (p.Met326Arg)
c.887T>G (p.Met296Arg)
c.878T>G (p.Met293Arg)
3g.123325434A>GCA354218579ADCY5c.653T>C (p.Met218Thr)
c.941T>C (p.Met314Thr)
c.1976T>C (p.Met659Thr)
n.235T>C
c.926T>C (p.Met309Thr)
c.875T>C (p.Met292Thr)
c.977T>C (p.Met326Thr)
c.887T>C (p.Met296Thr)
c.878T>C (p.Met293Thr)
3g.123325434A>TCA354218578ADCY5c.653T>A (p.Met218Lys)
c.941T>A (p.Met314Lys)
c.1976T>A (p.Met659Lys)
n.235T>A
c.926T>A (p.Met309Lys)
c.875T>A (p.Met292Lys)
c.977T>A (p.Met326Lys)
c.887T>A (p.Met296Lys)
c.878T>A (p.Met293Lys)
3g.123325435T>ACA354218580ADCY5c.652A>T (p.Met218Leu)
c.940A>T (p.Met314Leu)
c.1975A>T (p.Met659Leu)
n.234A>T
c.925A>T (p.Met309Leu)
c.874A>T (p.Met292Leu)
c.976A>T (p.Met326Leu)
c.886A>T (p.Met296Leu)
c.877A>T (p.Met293Leu)
3g.123325435T>CCA2577292ADCY5c.652A>G (p.Met218Val)
c.940A>G (p.Met314Val)
c.1975A>G (p.Met659Val)
n.234A>G
c.925A>G (p.Met309Val)
c.874A>G (p.Met292Val)
c.976A>G (p.Met326Val)
c.886A>G (p.Met296Val)
c.877A>G (p.Met293Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325435T>GCA354218581ADCY5c.652A>C (p.Met218Leu)
c.940A>C (p.Met314Leu)
c.1975A>C (p.Met659Leu)
n.234A>C
c.925A>C (p.Met309Leu)
c.874A>C (p.Met292Leu)
c.976A>C (p.Met326Leu)
c.886A>C (p.Met296Leu)
c.877A>C (p.Met293Leu)
3g.123325435T=CA1398346279ADCY5c.652A= (p.Met218=)
c.940A= (p.Met314=)
c.1975A= (p.Met659=)
n.234A=
c.925A= (p.Met309=)
c.874A= (p.Met292=)
c.976A= (p.Met326=)
c.886A= (p.Met296=)
c.877A= (p.Met293=)

Number of alleles fetched