Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11422777_11422851delCA2582529235ODAD3c.1130_1204del (p.Arg377_Arg401del)
c.557_631del (p.Arg186_Arg210del)
c.950_1024del (p.Arg317_Arg341del)
c.*1049_*1123del (n.*1049_*1123del)
c.968_1042del (p.Arg323_Arg347del)
 gnomAD v4
19g.11422776C>ACA404120287ODAD3c.1202G>T (p.Arg401Met)
c.629G>T (p.Arg210Met)
c.1022G>T (p.Arg341Met)
c.*1121G>T (n.*1121G>T)
c.1040G>T (p.Arg347Met)
19g.11422776C>GCA404120289ODAD3c.1202G>C (p.Arg401Thr)
c.629G>C (p.Arg210Thr)
c.1022G>C (p.Arg341Thr)
c.*1121G>C (n.*1121G>C)
c.1040G>C (p.Arg347Thr)
 COSMIC
19g.11422776C>TCA404120288ODAD3c.1202G>A (p.Arg401Lys)
c.629G>A (p.Arg210Lys)
c.1022G>A (p.Arg341Lys)
c.*1121G>A (n.*1121G>A)
c.1040G>A (p.Arg347Lys)
19g.11422777T>ACA404120290ODAD3c.1201A>T (p.Arg401Trp)
c.628A>T (p.Arg210Trp)
c.1021A>T (p.Arg341Trp)
c.*1120A>T (n.*1120A>T)
c.1039A>T (p.Arg347Trp)
 gnomAD v4
19g.11422777T>CCA404120291ODAD3c.1201A>G (p.Arg401Gly)
c.628A>G (p.Arg210Gly)
c.1021A>G (p.Arg341Gly)
c.*1120A>G (n.*1120A>G)
c.1039A>G (p.Arg347Gly)
19g.11422777T>GCA505749490ODAD3c.1201A>C (p.Arg401=)
c.628A>C (p.Arg210=)
c.1021A>C (p.Arg341=)
c.*1120A>C (n.*1120A>C)
c.1039A>C (p.Arg347=)
19g.11422777_11422779delinsTCACA2322925010ODAD3c.1199_1201delinsTGA (p.Val400=)
c.626_628delinsTGA (p.Val209=)
c.1019_1021delinsTGA (p.Val340=)
c.*1118_*1120delinsTGA (n.*1118_*1120delinsTGA)
c.1037_1039delinsTGA (p.Val346=)
19g.11422778C>ACA505749491ODAD3c.1200G>T (p.Val400=)
c.627G>T (p.Val209=)
c.1020G>T (p.Val340=)
c.*1119G>T (n.*1119G>T)
c.1038G>T (p.Val346=)
c.*94G>T (n.*94G>T)
19g.11422778C=CA2322925012ODAD3c.1200G= (p.Val400=)
c.627G= (p.Val209=)
c.1020G= (p.Val340=)
c.*1119G= (n.*1119G=)
c.1038G= (p.Val346=)
c.*94G= (n.*94G=)
19g.11422778C>GCA505749492ODAD3c.1200G>C (p.Val400=)
c.627G>C (p.Val209=)
c.1020G>C (p.Val340=)
c.*1119G>C (n.*1119G>C)
c.1038G>C (p.Val346=)
c.*94G>C (n.*94G>C)
19g.11422778C>TCA505749493ODAD3c.1200G>A (p.Val400=)
c.627G>A (p.Val209=)
c.1020G>A (p.Val340=)
c.*1119G>A (n.*1119G>A)
c.1038G>A (p.Val346=)
c.*94G>A (n.*94G>A)
 dbSNP
19g.11422779_11422780delCA2322925011ODAD3c.1199_1200del (p.Val400GlufsTer?)
c.626_627del (p.Val209GlufsTer?)
c.1019_1020del (p.Val340GlufsTer?)
c.*1118_*1119del (n.*1118_*1119del)
c.1037_1038del (p.Val346GlufsTer?)
c.*93_*94del (n.*93_*94del)
 dbSNP
19g.11422779A>CCA404120293ODAD3c.1199T>G (p.Val400Gly)
c.626T>G (p.Val209Gly)
c.1019T>G (p.Val340Gly)
c.*1118T>G (n.*1118T>G)
c.1037T>G (p.Val346Gly)
c.*93T>G (n.*93T>G)
19g.11422779A>GCA404120295ODAD3c.1199T>C (p.Val400Ala)
c.626T>C (p.Val209Ala)
c.1019T>C (p.Val340Ala)
c.*1118T>C (n.*1118T>C)
c.1037T>C (p.Val346Ala)
c.*93T>C (n.*93T>C)
19g.11422779A>TCA404120296ODAD3c.1199T>A (p.Val400Glu)
c.626T>A (p.Val209Glu)
c.1019T>A (p.Val340Glu)
c.*1118T>A (n.*1118T>A)
c.1037T>A (p.Val346Glu)
c.*93T>A (n.*93T>A)
19g.11422780C>ACA404120299ODAD3c.1198G>T (p.Val400Leu)
c.625G>T (p.Val209Leu)
c.1018G>T (p.Val340Leu)
c.*1117G>T (n.*1117G>T)
c.1036G>T (p.Val346Leu)
c.*92G>T (n.*92G>T)
19g.11422780C>GCA404120300ODAD3c.1198G>C (p.Val400Leu)
c.625G>C (p.Val209Leu)
c.1018G>C (p.Val340Leu)
c.*1117G>C (n.*1117G>C)
c.1036G>C (p.Val346Leu)
c.*92G>C (n.*92G>C)
19g.11422780C>TCA404120301ODAD3c.1198G>A (p.Val400Met)
c.625G>A (p.Val209Met)
c.1018G>A (p.Val340Met)
c.*1117G>A (n.*1117G>A)
c.1036G>A (p.Val346Met)
c.*92G>A (n.*92G>A)
19g.11422781C>ACA404120303ODAD3c.1197G>T (p.Leu399Phe)
c.624G>T (p.Leu208Phe)
c.1017G>T (p.Leu339Phe)
c.*1116G>T (n.*1116G>T)
c.1035G>T (p.Leu345Phe)
c.*91G>T (n.*91G>T)
19g.11422781C=CA2322925013ODAD3c.1197G= (p.Leu399=)
c.624G= (p.Leu208=)
c.1017G= (p.Leu339=)
c.*1116G= (n.*1116G=)
c.1035G= (p.Leu345=)
c.*91G= (n.*91G=)
19g.11422781C>GCA404120305ODAD3c.1197G>C (p.Leu399Phe)
c.624G>C (p.Leu208Phe)
c.1017G>C (p.Leu339Phe)
c.*1116G>C (n.*1116G>C)
c.1035G>C (p.Leu345Phe)
c.*91G>C (n.*91G>C)
19g.11422781C>TCA505749494ODAD3c.1197G>A (p.Leu399=)
c.624G>A (p.Leu208=)
c.1017G>A (p.Leu339=)
c.*1116G>A (n.*1116G>A)
c.1035G>A (p.Leu345=)
c.*91G>A (n.*91G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.11422782A=CA2322925014ODAD3c.1196T= (p.Leu399=)
c.623T= (p.Leu208=)
c.1016T= (p.Leu339=)
c.*1115T= (n.*1115T=)
c.1034T= (p.Leu345=)
c.*90T= (n.*90T=)
19g.11422782A>CCA404120307ODAD3c.1196T>G (p.Leu399Trp)
c.623T>G (p.Leu208Trp)
c.1016T>G (p.Leu339Trp)
c.*1115T>G (n.*1115T>G)
c.1034T>G (p.Leu345Trp)
c.*90T>G (n.*90T>G)
 ClinVar dbSNP gnomAD v4
19g.11422782A>GCA404120308ODAD3c.1196T>C (p.Leu399Ser)
c.623T>C (p.Leu208Ser)
c.1016T>C (p.Leu339Ser)
c.*1115T>C (n.*1115T>C)
c.1034T>C (p.Leu345Ser)
c.*90T>C (n.*90T>C)
 gnomAD v4
19g.11422782A>TCA404120310ODAD3c.1196T>A (p.Leu399Ter)
c.623T>A (p.Leu208Ter)
c.1016T>A (p.Leu339Ter)
c.*1115T>A (n.*1115T>A)
c.1034T>A (p.Leu345Ter)
c.*90T>A (n.*90T>A)
19g.11422783A=CA2322925015ODAD3c.1195T= (p.Leu399=)
c.622T= (p.Leu208=)
c.1015T= (p.Leu339=)
c.*1114T= (n.*1114T=)
c.1033T= (p.Leu345=)
c.*89T= (n.*89T=)
19g.11422783A>CCA404120311ODAD3c.1195T>G (p.Leu399Val)
c.622T>G (p.Leu208Val)
c.1015T>G (p.Leu339Val)
c.*1114T>G (n.*1114T>G)
c.1033T>G (p.Leu345Val)
c.*89T>G (n.*89T>G)
19g.11422783A>GCA505749495ODAD3c.1195T>C (p.Leu399=)
c.622T>C (p.Leu208=)
c.1015T>C (p.Leu339=)
c.*1114T>C (n.*1114T>C)
c.1033T>C (p.Leu345=)
c.*89T>C (n.*89T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.11422783A>TCA404120313ODAD3c.1195T>A (p.Leu399Met)
c.622T>A (p.Leu208Met)
c.1015T>A (p.Leu339Met)
c.*1114T>A (n.*1114T>A)
c.1033T>A (p.Leu345Met)
c.*89T>A (n.*89T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11422784C>ACA505749496ODAD3c.1194G>T (p.Thr398=)
c.621G>T (p.Thr207=)
c.1014G>T (p.Thr338=)
c.*1113G>T (n.*1113G>T)
c.1032G>T (p.Thr344=)
c.*88G>T (n.*88G>T)
19g.11422784C=CA2322925016ODAD3c.1194G= (p.Thr398=)
c.621G= (p.Thr207=)
c.1014G= (p.Thr338=)
c.*1113G= (n.*1113G=)
c.1032G= (p.Thr344=)
c.*88G= (n.*88G=)
19g.11422784C>GCA9212087ODAD3c.1194G>C (p.Thr398=)
c.621G>C (p.Thr207=)
c.1014G>C (p.Thr338=)
c.*1113G>C (n.*1113G>C)
c.1032G>C (p.Thr344=)
c.*88G>C (n.*88G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422784C>TCA505749497ODAD3c.1194G>A (p.Thr398=)
c.621G>A (p.Thr207=)
c.1014G>A (p.Thr338=)
c.*1113G>A (n.*1113G>A)
c.1032G>A (p.Thr344=)
c.*88G>A (n.*88G>A)
 dbSNP
19g.11422785G>ACA404120315ODAD3c.1193C>T (p.Thr398Met)
c.620C>T (p.Thr207Met)
c.1013C>T (p.Thr338Met)
c.*1112C>T (n.*1112C>T)
c.1031C>T (p.Thr344Met)
c.*87C>T (n.*87C>T)
 gnomAD v4
19g.11422785G>CCA404120316ODAD3c.1193C>G (p.Thr398Arg)
c.620C>G (p.Thr207Arg)
c.1013C>G (p.Thr338Arg)
c.*1112C>G (n.*1112C>G)
c.1031C>G (p.Thr344Arg)
c.*87C>G (n.*87C>G)
 gnomAD v4
19g.11422785G=CA2322925017ODAD3c.1193C= (p.Thr398=)
c.620C= (p.Thr207=)
c.1013C= (p.Thr338=)
c.*1112C= (n.*1112C=)
c.1031C= (p.Thr344=)
c.*87C= (n.*87C=)
19g.11422785G>TCA9212088ODAD3c.1193C>A (p.Thr398Lys)
c.620C>A (p.Thr207Lys)
c.1013C>A (p.Thr338Lys)
c.*1112C>A (n.*1112C>A)
c.1031C>A (p.Thr344Lys)
c.*87C>A (n.*87C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422786_11422789dupCA783271450ODAD3c.1190_1193dup (p.Leu399AspfsTer?)
c.617_620dup (p.Leu208AspfsTer?)
c.1010_1013dup (p.Leu339AspfsTer?)
c.*1109_*1112dup (n.*1109_*1112dup)
c.1028_1031dup (p.Leu345AspfsTer?)
c.*84_*87dup (n.*84_*87dup)
 dbSNP gnomAD v3 gnomAD v4
19g.11422786T>ACA404120317ODAD3c.1192A>T (p.Thr398Ser)
c.619A>T (p.Thr207Ser)
c.1012A>T (p.Thr338Ser)
c.*1111A>T (n.*1111A>T)
c.1030A>T (p.Thr344Ser)
c.*86A>T (n.*86A>T)
19g.11422786T>CCA404120319ODAD3c.1192A>G (p.Thr398Ala)
c.619A>G (p.Thr207Ala)
c.1012A>G (p.Thr338Ala)
c.*1111A>G (n.*1111A>G)
c.1030A>G (p.Thr344Ala)
c.*86A>G (n.*86A>G)
19g.11422786T>GCA404120320ODAD3c.1192A>C (p.Thr398Pro)
c.619A>C (p.Thr207Pro)
c.1012A>C (p.Thr338Pro)
c.*1111A>C (n.*1111A>C)
c.1030A>C (p.Thr344Pro)
c.*86A>C (n.*86A>C)
19g.11422787C>ACA404120322ODAD3c.1191G>T (p.Gln397His)
c.618G>T (p.Gln206His)
c.1011G>T (p.Gln337His)
c.*1110G>T (n.*1110G>T)
c.1029G>T (p.Gln343His)
c.*85G>T (n.*85G>T)
19g.11422787C=CA2322925018ODAD3c.1191G= (p.Gln397=)
c.618G= (p.Gln206=)
c.1011G= (p.Gln337=)
c.*1110G= (n.*1110G=)
c.1029G= (p.Gln343=)
c.*85G= (n.*85G=)
19g.11422787C>GCA404120323ODAD3c.1191G>C (p.Gln397His)
c.618G>C (p.Gln206His)
c.1011G>C (p.Gln337His)
c.*1110G>C (n.*1110G>C)
c.1029G>C (p.Gln343His)
c.*85G>C (n.*85G>C)
19g.11422787C>TCA9212089ODAD3c.1191G>A (p.Gln397=)
c.618G>A (p.Gln206=)
c.1011G>A (p.Gln337=)
c.*1110G>A (n.*1110G>A)
c.1029G>A (p.Gln343=)
c.*85G>A (n.*85G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422788T>ACA404120326ODAD3c.1190A>T (p.Gln397Leu)
c.617A>T (p.Gln206Leu)
c.1010A>T (p.Gln337Leu)
c.*1109A>T (n.*1109A>T)
c.1028A>T (p.Gln343Leu)
c.*84A>T (n.*84A>T)
19g.11422788T>CCA404120327ODAD3c.1190A>G (p.Gln397Arg)
c.617A>G (p.Gln206Arg)
c.1010A>G (p.Gln337Arg)
c.*1109A>G (n.*1109A>G)
c.1028A>G (p.Gln343Arg)
c.*84A>G (n.*84A>G)
19g.11422788T>GCA404120329ODAD3c.1190A>C (p.Gln397Pro)
c.617A>C (p.Gln206Pro)
c.1010A>C (p.Gln337Pro)
c.*1109A>C (n.*1109A>C)
c.1028A>C (p.Gln343Pro)
c.*84A>C (n.*84A>C)
19g.11422789G>ACA404120335ODAD3c.1189C>T (p.Gln397Ter)
c.616C>T (p.Gln206Ter)
c.1009C>T (p.Gln337Ter)
c.*1108C>T (n.*1108C>T)
c.1027C>T (p.Gln343Ter)
c.*83C>T (n.*83C>T)
19g.11422789G>CCA9212090ODAD3c.1189C>G (p.Gln397Glu)
c.616C>G (p.Gln206Glu)
c.1009C>G (p.Gln337Glu)
c.*1108C>G (n.*1108C>G)
c.1027C>G (p.Gln343Glu)
c.*83C>G (n.*83C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422789G=CA2322925019ODAD3c.1189C= (p.Gln397=)
c.616C= (p.Gln206=)
c.1009C= (p.Gln337=)
c.*1108C= (n.*1108C=)
c.1027C= (p.Gln343=)
c.*83C= (n.*83C=)
19g.11422789G>TCA404120332ODAD3c.1189C>A (p.Gln397Lys)
c.616C>A (p.Gln206Lys)
c.1009C>A (p.Gln337Lys)
c.*1108C>A (n.*1108C>A)
c.1027C>A (p.Gln343Lys)
c.*83C>A (n.*83C>A)
 gnomAD v4
19g.11422790C>ACA404120337ODAD3c.1188G>T (p.Glu396Asp)
c.615G>T (p.Glu205Asp)
c.1008G>T (p.Glu336Asp)
c.*1107G>T (n.*1107G>T)
c.1026G>T (p.Glu342Asp)
c.*82G>T (n.*82G>T)
19g.11422790C>GCA404120338ODAD3c.1188G>C (p.Glu396Asp)
c.615G>C (p.Glu205Asp)
c.1008G>C (p.Glu336Asp)
c.*1107G>C (n.*1107G>C)
c.1026G>C (p.Glu342Asp)
c.*82G>C (n.*82G>C)
19g.11422790C>TCA505749498ODAD3c.1188G>A (p.Glu396=)
c.615G>A (p.Glu205=)
c.1008G>A (p.Glu336=)
c.*1107G>A (n.*1107G>A)
c.1026G>A (p.Glu342=)
c.*82G>A (n.*82G>A)
 gnomAD v4
19g.11422791T>ACA404120340ODAD3c.1187A>T (p.Glu396Val)
c.614A>T (p.Glu205Val)
c.1007A>T (p.Glu336Val)
c.*1106A>T (n.*1106A>T)
c.1025A>T (p.Glu342Val)
c.*81A>T (n.*81A>T)
19g.11422791T>CCA404120342ODAD3c.1187A>G (p.Glu396Gly)
c.614A>G (p.Glu205Gly)
c.1007A>G (p.Glu336Gly)
c.*1106A>G (n.*1106A>G)
c.1025A>G (p.Glu342Gly)
c.*81A>G (n.*81A>G)
19g.11422791T>GCA404120344ODAD3c.1187A>C (p.Glu396Ala)
c.614A>C (p.Glu205Ala)
c.1007A>C (p.Glu336Ala)
c.*1106A>C (n.*1106A>C)
c.1025A>C (p.Glu342Ala)
c.*81A>C (n.*81A>C)
19g.11422792C>ACA9212093ODAD3c.1186G>T (p.Glu396Ter)
c.613G>T (p.Glu205Ter)
c.1006G>T (p.Glu336Ter)
c.*1105G>T (n.*1105G>T)
c.1024G>T (p.Glu342Ter)
c.*80G>T (n.*80G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422792C=CA2322925020ODAD3c.1186G= (p.Glu396=)
c.613G= (p.Glu205=)
c.1006G= (p.Glu336=)
c.*1105G= (n.*1105G=)
c.1024G= (p.Glu342=)
c.*80G= (n.*80G=)
19g.11422792C>GCA9212091ODAD3c.1186G>C (p.Glu396Gln)
c.613G>C (p.Glu205Gln)
c.1006G>C (p.Glu336Gln)
c.*1105G>C (n.*1105G>C)
c.1024G>C (p.Glu342Gln)
c.*80G>C (n.*80G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422792C>TCA9212092ODAD3c.1186G>A (p.Glu396Lys)
c.613G>A (p.Glu205Lys)
c.1006G>A (p.Glu336Lys)
c.*1105G>A (n.*1105G>A)
c.1024G>A (p.Glu342Lys)
c.*80G>A (n.*80G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422792_11422793delinsCGCA2322925021ODAD3c.1185_1186delinsCG (p.Asn395=)
c.612_613delinsCG (p.Asn204=)
c.1005_1006delinsCG (p.Asn335=)
c.*1104_*1105delinsCG (n.*1104_*1105delinsCG)
c.1023_1024delinsCG (p.Asn341=)
c.*79_*80delinsCG (n.*79_*80delinsCG)
19g.11422793delCA783271463ODAD3c.1185del (p.Asn395LysfsTer6)
c.612del (p.Asn204LysfsTer6)
c.1005del (p.Asn335LysfsTer6)
c.*1104del (n.*1104del)
c.1023del (p.Asn341LysfsTer6)
c.*79del (n.*79del)
 dbSNP
19g.11422793G>ACA505749499ODAD3c.1185C>T (p.Asn395=)
c.612C>T (p.Asn204=)
c.1005C>T (p.Asn335=)
c.*1104C>T (n.*1104C>T)
c.1023C>T (p.Asn341=)
c.*79C>T (n.*79C>T)
 ClinVar dbSNP gnomAD v4
19g.11422793G>CCA404120347ODAD3c.1185C>G (p.Asn395Lys)
c.612C>G (p.Asn204Lys)
c.1005C>G (p.Asn335Lys)
c.*1104C>G (n.*1104C>G)
c.1023C>G (p.Asn341Lys)
c.*79C>G (n.*79C>G)
19g.11422793G=CA2322925022ODAD3c.1185C= (p.Asn395=)
c.612C= (p.Asn204=)
c.1005C= (p.Asn335=)
c.*1104C= (n.*1104C=)
c.1023C= (p.Asn341=)
c.*79C= (n.*79C=)
19g.11422793G>TCA404120348ODAD3c.1185C>A (p.Asn395Lys)
c.612C>A (p.Asn204Lys)
c.1005C>A (p.Asn335Lys)
c.*1104C>A (n.*1104C>A)
c.1023C>A (p.Asn341Lys)
c.*79C>A (n.*79C>A)
19g.11422794T>ACA404120351ODAD3c.1184A>T (p.Asn395Ile)
c.611A>T (p.Asn204Ile)
c.1004A>T (p.Asn335Ile)
c.*1103A>T (n.*1103A>T)
c.1022A>T (p.Asn341Ile)
c.*78A>T (n.*78A>T)
19g.11422794T>CCA404120352ODAD3c.1184A>G (p.Asn395Ser)
c.611A>G (p.Asn204Ser)
c.1004A>G (p.Asn335Ser)
c.*1103A>G (n.*1103A>G)
c.1022A>G (p.Asn341Ser)
c.*78A>G (n.*78A>G)
19g.11422794T>GCA404120354ODAD3c.1184A>C (p.Asn395Thr)
c.611A>C (p.Asn204Thr)
c.1004A>C (p.Asn335Thr)
c.*1103A>C (n.*1103A>C)
c.1022A>C (p.Asn341Thr)
c.*78A>C (n.*78A>C)
19g.11422795T>ACA404120355ODAD3c.1183A>T (p.Asn395Tyr)
c.610A>T (p.Asn204Tyr)
c.1003A>T (p.Asn335Tyr)
c.*1102A>T (n.*1102A>T)
c.1021A>T (p.Asn341Tyr)
c.*77A>T (n.*77A>T)
19g.11422795T>CCA404120358ODAD3c.1183A>G (p.Asn395Asp)
c.610A>G (p.Asn204Asp)
c.1003A>G (p.Asn335Asp)
c.*1102A>G (n.*1102A>G)
c.1021A>G (p.Asn341Asp)
c.*77A>G (n.*77A>G)
19g.11422795T>GCA404120356ODAD3c.1183A>C (p.Asn395His)
c.610A>C (p.Asn204His)
c.1003A>C (p.Asn335His)
c.*1102A>C (n.*1102A>C)
c.1021A>C (p.Asn341His)
c.*77A>C (n.*77A>C)
19g.11422796C>ACA404120360ODAD3c.1182G>T (p.Glu394Asp)
c.609G>T (p.Glu203Asp)
c.1002G>T (p.Glu334Asp)
c.*1101G>T (n.*1101G>T)
c.1020G>T (p.Glu340Asp)
c.*76G>T (n.*76G>T)
19g.11422796C>GCA404120361ODAD3c.1182G>C (p.Glu394Asp)
c.609G>C (p.Glu203Asp)
c.1002G>C (p.Glu334Asp)
c.*1101G>C (n.*1101G>C)
c.1020G>C (p.Glu340Asp)
c.*76G>C (n.*76G>C)
19g.11422796C>TCA505749500ODAD3c.1182G>A (p.Glu394=)
c.609G>A (p.Glu203=)
c.1002G>A (p.Glu334=)
c.*1101G>A (n.*1101G>A)
c.1020G>A (p.Glu340=)
c.*76G>A (n.*76G>A)
 gnomAD v4
19g.11422797T>ACA404120362ODAD3c.1181A>T (p.Glu394Val)
c.608A>T (p.Glu203Val)
c.1001A>T (p.Glu334Val)
c.*1100A>T (n.*1100A>T)
c.1019A>T (p.Glu340Val)
c.*75A>T (n.*75A>T)
19g.11422797T>CCA404120364ODAD3c.1181A>G (p.Glu394Gly)
c.608A>G (p.Glu203Gly)
c.1001A>G (p.Glu334Gly)
c.*1100A>G (n.*1100A>G)
c.1019A>G (p.Glu340Gly)
c.*75A>G (n.*75A>G)
19g.11422797T>GCA404120365ODAD3c.1181A>C (p.Glu394Ala)
c.608A>C (p.Glu203Ala)
c.1001A>C (p.Glu334Ala)
c.*1100A>C (n.*1100A>C)
c.1019A>C (p.Glu340Ala)
c.*75A>C (n.*75A>C)
19g.11422798C>ACA9212094ODAD3c.1180G>T (p.Glu394Ter)
c.607G>T (p.Glu203Ter)
c.1000G>T (p.Glu334Ter)
c.*1099G>T (n.*1099G>T)
c.1018G>T (p.Glu340Ter)
c.*74G>T (n.*74G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422798C=CA2322925023ODAD3c.1180G= (p.Glu394=)
c.607G= (p.Glu203=)
c.1000G= (p.Glu334=)
c.*1099G= (n.*1099G=)
c.1018G= (p.Glu340=)
c.*74G= (n.*74G=)
19g.11422798C>GCA404120367ODAD3c.1180G>C (p.Glu394Gln)
c.607G>C (p.Glu203Gln)
c.1000G>C (p.Glu334Gln)
c.*1099G>C (n.*1099G>C)
c.1018G>C (p.Glu340Gln)
c.*74G>C (n.*74G>C)
19g.11422798C>TCA404120369ODAD3c.1180G>A (p.Glu394Lys)
c.607G>A (p.Glu203Lys)
c.1000G>A (p.Glu334Lys)
c.*1099G>A (n.*1099G>A)
c.1018G>A (p.Glu340Lys)
c.*74G>A (n.*74G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11422799G>ACA505749501ODAD3c.1179C>T (p.Ser393=)
c.606C>T (p.Ser202=)
c.999C>T (p.Ser333=)
c.*1098C>T (n.*1098C>T)
c.1017C>T (p.Ser339=)
c.*73C>T (n.*73C>T)
19g.11422799G>CCA404120371ODAD3c.1179C>G (p.Ser393Arg)
c.606C>G (p.Ser202Arg)
c.999C>G (p.Ser333Arg)
c.*1098C>G (n.*1098C>G)
c.1017C>G (p.Ser339Arg)
c.*73C>G (n.*73C>G)
19g.11422799G>TCA404120373ODAD3c.1179C>A (p.Ser393Arg)
c.606C>A (p.Ser202Arg)
c.999C>A (p.Ser333Arg)
c.*1098C>A (n.*1098C>A)
c.1017C>A (p.Ser339Arg)
c.*73C>A (n.*73C>A)
 gnomAD v4
19g.11422800C>ACA404120378ODAD3c.1178G>T (p.Ser393Ile)
c.605G>T (p.Ser202Ile)
c.998G>T (p.Ser333Ile)
c.*1097G>T (n.*1097G>T)
c.1016G>T (p.Ser339Ile)
c.*72G>T (n.*72G>T)
19g.11422800C=CA2322925024ODAD3c.1178G= (p.Ser393=)
c.605G= (p.Ser202=)
c.998G= (p.Ser333=)
c.*1097G= (n.*1097G=)
c.1016G= (p.Ser339=)
c.*72G= (n.*72G=)
19g.11422800C>GCA404120376ODAD3c.1178G>C (p.Ser393Thr)
c.605G>C (p.Ser202Thr)
c.998G>C (p.Ser333Thr)
c.*1097G>C (n.*1097G>C)
c.1016G>C (p.Ser339Thr)
c.*72G>C (n.*72G>C)
19g.11422800C>TCA9212095ODAD3c.1178G>A (p.Ser393Asn)
c.605G>A (p.Ser202Asn)
c.998G>A (p.Ser333Asn)
c.*1097G>A (n.*1097G>A)
c.1016G>A (p.Ser339Asn)
c.*72G>A (n.*72G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422801T>ACA9212096ODAD3c.1177A>T (p.Ser393Cys)
c.604A>T (p.Ser202Cys)
c.997A>T (p.Ser333Cys)
c.*1096A>T (n.*1096A>T)
c.1015A>T (p.Ser339Cys)
c.*71A>T (n.*71A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422801T>CCA404120382ODAD3c.1177A>G (p.Ser393Gly)
c.604A>G (p.Ser202Gly)
c.997A>G (p.Ser333Gly)
c.*1096A>G (n.*1096A>G)
c.1015A>G (p.Ser339Gly)
c.*71A>G (n.*71A>G)
 dbSNP
19g.11422801T>GCA404120380ODAD3c.1177A>C (p.Ser393Arg)
c.604A>C (p.Ser202Arg)
c.997A>C (p.Ser333Arg)
c.*1096A>C (n.*1096A>C)
c.1015A>C (p.Ser339Arg)
c.*71A>C (n.*71A>C)
19g.11422801T=CA2322925025ODAD3c.1177A= (p.Ser393=)
c.604A= (p.Ser202=)
c.997A= (p.Ser333=)
c.*1096A= (n.*1096A=)
c.1015A= (p.Ser339=)
c.*71A= (n.*71A=)
19g.11422802C>ACA404120384ODAD3c.1176G>T (p.Lys392Asn)
c.603G>T (p.Lys201Asn)
c.996G>T (p.Lys332Asn)
c.*1095G>T (n.*1095G>T)
c.1014G>T (p.Lys338Asn)
c.*70G>T (n.*70G>T)
19g.11422802C=CA2322925026ODAD3c.1176G= (p.Lys392=)
c.603G= (p.Lys201=)
c.996G= (p.Lys332=)
c.*1095G= (n.*1095G=)
c.1014G= (p.Lys338=)
c.*70G= (n.*70G=)
19g.11422802C>GCA9212097ODAD3c.1176G>C (p.Lys392Asn)
c.603G>C (p.Lys201Asn)
c.996G>C (p.Lys332Asn)
c.*1095G>C (n.*1095G>C)
c.1014G>C (p.Lys338Asn)
c.*70G>C (n.*70G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422802C>TCA505749502ODAD3c.1176G>A (p.Lys392=)
c.603G>A (p.Lys201=)
c.996G>A (p.Lys332=)
c.*1095G>A (n.*1095G>A)
c.1014G>A (p.Lys338=)
c.*70G>A (n.*70G>A)
 dbSNP
19g.11422803T>ACA404120387ODAD3c.1175A>T (p.Lys392Met)
c.602A>T (p.Lys201Met)
c.995A>T (p.Lys332Met)
c.*1094A>T (n.*1094A>T)
c.1013A>T (p.Lys338Met)
c.*69A>T (n.*69A>T)
19g.11422803T>CCA404120389ODAD3c.1175A>G (p.Lys392Arg)
c.602A>G (p.Lys201Arg)
c.995A>G (p.Lys332Arg)
c.*1094A>G (n.*1094A>G)
c.1013A>G (p.Lys338Arg)
c.*69A>G (n.*69A>G)
 gnomAD v4
19g.11422803T>GCA404120390ODAD3c.1175A>C (p.Lys392Thr)
c.602A>C (p.Lys201Thr)
c.995A>C (p.Lys332Thr)
c.*1094A>C (n.*1094A>C)
c.1013A>C (p.Lys338Thr)
c.*69A>C (n.*69A>C)
19g.11422804T>ACA404120392ODAD3c.1174A>T (p.Lys392Ter)
c.601A>T (p.Lys201Ter)
c.994A>T (p.Lys332Ter)
c.*1093A>T (n.*1093A>T)
c.1012A>T (p.Lys338Ter)
c.*68A>T (n.*68A>T)
19g.11422804T>CCA404120397ODAD3c.1174A>G (p.Lys392Glu)
c.601A>G (p.Lys201Glu)
c.994A>G (p.Lys332Glu)
c.*1093A>G (n.*1093A>G)
c.1012A>G (p.Lys338Glu)
c.*68A>G (n.*68A>G)
19g.11422804T>GCA404120399ODAD3c.1174A>C (p.Lys392Gln)
c.601A>C (p.Lys201Gln)
c.994A>C (p.Lys332Gln)
c.*1093A>C (n.*1093A>C)
c.1012A>C (p.Lys338Gln)
c.*68A>C (n.*68A>C)
19g.11422805G>ACA505749503ODAD3c.1173C>T (p.Leu391=)
c.600C>T (p.Leu200=)
c.993C>T (p.Leu331=)
c.*1092C>T (n.*1092C>T)
c.1011C>T (p.Leu337=)
c.*67C>T (n.*67C>T)
 COSMIC
19g.11422805G>CCA505749504ODAD3c.1173C>G (p.Leu391=)
c.600C>G (p.Leu200=)
c.993C>G (p.Leu331=)
c.*1092C>G (n.*1092C>G)
c.1011C>G (p.Leu337=)
c.*67C>G (n.*67C>G)
19g.11422805G>TCA505749505ODAD3c.1173C>A (p.Leu391=)
c.600C>A (p.Leu200=)
c.993C>A (p.Leu331=)
c.*1092C>A (n.*1092C>A)
c.1011C>A (p.Leu337=)
c.*67C>A (n.*67C>A)
 gnomAD v4
19g.11422806A>CCA404120401ODAD3c.1172T>G (p.Leu391Arg)
c.599T>G (p.Leu200Arg)
c.992T>G (p.Leu331Arg)
c.*1091T>G (n.*1091T>G)
c.1010T>G (p.Leu337Arg)
c.*66T>G (n.*66T>G)
19g.11422806A>GCA404120403ODAD3c.1172T>C (p.Leu391Pro)
c.599T>C (p.Leu200Pro)
c.992T>C (p.Leu331Pro)
c.*1091T>C (n.*1091T>C)
c.1010T>C (p.Leu337Pro)
c.*66T>C (n.*66T>C)
19g.11422806A>TCA404120406ODAD3c.1172T>A (p.Leu391His)
c.599T>A (p.Leu200His)
c.992T>A (p.Leu331His)
c.*1091T>A (n.*1091T>A)
c.1010T>A (p.Leu337His)
c.*66T>A (n.*66T>A)
19g.11422807G>ACA404120410ODAD3c.1171C>T (p.Leu391Phe)
c.598C>T (p.Leu200Phe)
c.991C>T (p.Leu331Phe)
c.*1090C>T (n.*1090C>T)
c.1009C>T (p.Leu337Phe)
c.*65C>T (n.*65C>T)
19g.11422807G>CCA404120408ODAD3c.1171C>G (p.Leu391Val)
c.598C>G (p.Leu200Val)
c.991C>G (p.Leu331Val)
c.*1090C>G (n.*1090C>G)
c.1009C>G (p.Leu337Val)
c.*65C>G (n.*65C>G)
19g.11422807G=CA2322925027ODAD3c.1171C= (p.Leu391=)
c.598C= (p.Leu200=)
c.991C= (p.Leu331=)
c.*1090C= (n.*1090C=)
c.1009C= (p.Leu337=)
c.*65C= (n.*65C=)
19g.11422807G>TCA404120407ODAD3c.1171C>A (p.Leu391Ile)
c.598C>A (p.Leu200Ile)
c.991C>A (p.Leu331Ile)
c.*1090C>A (n.*1090C>A)
c.1009C>A (p.Leu337Ile)
c.*65C>A (n.*65C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.11422808C>ACA505749508ODAD3c.1170G>T (p.Thr390=)
c.597G>T (p.Thr199=)
c.990G>T (p.Thr330=)
c.*1089G>T (n.*1089G>T)
c.1008G>T (p.Thr336=)
c.*64G>T (n.*64G>T)
 ClinVar dbSNP
19g.11422808C=CA2322925028ODAD3c.1170G= (p.Thr390=)
c.597G= (p.Thr199=)
c.990G= (p.Thr330=)
c.*1089G= (n.*1089G=)
c.1008G= (p.Thr336=)
c.*64G= (n.*64G=)
19g.11422808C>GCA505749506ODAD3c.1170G>C (p.Thr390=)
c.597G>C (p.Thr199=)
c.990G>C (p.Thr330=)
c.*1089G>C (n.*1089G>C)
c.1008G>C (p.Thr336=)
c.*64G>C (n.*64G>C)
19g.11422808C>TCA505749507ODAD3c.1170G>A (p.Thr390=)
c.597G>A (p.Thr199=)
c.990G>A (p.Thr330=)
c.*1089G>A (n.*1089G>A)
c.1008G>A (p.Thr336=)
c.*64G>A (n.*64G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422809_11422811delCA2582529236ODAD3c.1168_1170del (p.Thr390del)
c.595_597del (p.Thr199del)
c.988_990del (p.Thr330del)
c.*1087_*1089del (n.*1087_*1089del)
c.1006_1008del (p.Thr336del)
c.*62_*64del (n.*62_*64del)
 gnomAD v4
19g.11422809G>ACA404120412ODAD3c.1169C>T (p.Thr390Met)
c.596C>T (p.Thr199Met)
c.989C>T (p.Thr330Met)
c.*1088C>T (n.*1088C>T)
c.1007C>T (p.Thr336Met)
c.*63C>T (n.*63C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422809G>CCA404120414ODAD3c.1169C>G (p.Thr390Arg)
c.596C>G (p.Thr199Arg)
c.989C>G (p.Thr330Arg)
c.*1088C>G (n.*1088C>G)
c.1007C>G (p.Thr336Arg)
c.*63C>G (n.*63C>G)
19g.11422809G=CA2322925030ODAD3c.1169C= (p.Thr390=)
c.596C= (p.Thr199=)
c.989C= (p.Thr330=)
c.*1088C= (n.*1088C=)
c.1007C= (p.Thr336=)
c.*63C= (n.*63C=)
19g.11422809G>TCA404120415ODAD3c.1169C>A (p.Thr390Lys)
c.596C>A (p.Thr199Lys)
c.989C>A (p.Thr330Lys)
c.*1088C>A (n.*1088C>A)
c.1007C>A (p.Thr336Lys)
c.*63C>A (n.*63C>A)
19g.11422809_11422812dupCA2322925029ODAD3c.1166_1169dup (p.Leu391AspfsTer?)
c.593_596dup (p.Leu200AspfsTer?)
c.986_989dup (p.Leu331AspfsTer?)
c.*1085_*1088dup (n.*1085_*1088dup)
c.1004_1007dup (p.Leu337AspfsTer?)
c.*60_*63dup (n.*60_*63dup)
 ClinVar dbSNP
19g.11422810T>ACA404120417ODAD3c.1168A>T (p.Thr390Ser)
c.595A>T (p.Thr199Ser)
c.988A>T (p.Thr330Ser)
c.*1087A>T (n.*1087A>T)
c.1006A>T (p.Thr336Ser)
c.*62A>T (n.*62A>T)
19g.11422810T>CCA404120419ODAD3c.1168A>G (p.Thr390Ala)
c.595A>G (p.Thr199Ala)
c.988A>G (p.Thr330Ala)
c.*1087A>G (n.*1087A>G)
c.1006A>G (p.Thr336Ala)
c.*62A>G (n.*62A>G)
19g.11422810T>GCA404120420ODAD3c.1168A>C (p.Thr390Pro)
c.595A>C (p.Thr199Pro)
c.988A>C (p.Thr330Pro)
c.*1087A>C (n.*1087A>C)
c.1006A>C (p.Thr336Pro)
c.*62A>C (n.*62A>C)
19g.11422811C>ACA404120421ODAD3c.1167G>T (p.Glu389Asp)
c.594G>T (p.Glu198Asp)
c.987G>T (p.Glu329Asp)
c.*1086G>T (n.*1086G>T)
c.1005G>T (p.Glu335Asp)
c.*61G>T (n.*61G>T)
19g.11422811C>GCA404120422ODAD3c.1167G>C (p.Glu389Asp)
c.594G>C (p.Glu198Asp)
c.987G>C (p.Glu329Asp)
c.*1086G>C (n.*1086G>C)
c.1005G>C (p.Glu335Asp)
c.*61G>C (n.*61G>C)
19g.11422811C>TCA505749509ODAD3c.1167G>A (p.Glu389=)
c.594G>A (p.Glu198=)
c.987G>A (p.Glu329=)
c.*1086G>A (n.*1086G>A)
c.1005G>A (p.Glu335=)
c.*61G>A (n.*61G>A)
19g.11422812T>ACA404120424ODAD3c.1166A>T (p.Glu389Val)
c.593A>T (p.Glu198Val)
c.986A>T (p.Glu329Val)
c.*1085A>T (n.*1085A>T)
c.1004A>T (p.Glu335Val)
c.*60A>T (n.*60A>T)
19g.11422812T>CCA404120425ODAD3c.1166A>G (p.Glu389Gly)
c.593A>G (p.Glu198Gly)
c.986A>G (p.Glu329Gly)
c.*1085A>G (n.*1085A>G)
c.1004A>G (p.Glu335Gly)
c.*60A>G (n.*60A>G)
 gnomAD v4
19g.11422812T>GCA404120427ODAD3c.1166A>C (p.Glu389Ala)
c.593A>C (p.Glu198Ala)
c.986A>C (p.Glu329Ala)
c.*1085A>C (n.*1085A>C)
c.1004A>C (p.Glu335Ala)
c.*60A>C (n.*60A>C)
19g.11422813C>ACA404120433ODAD3c.1165G>T (p.Glu389Ter)
c.592G>T (p.Glu198Ter)
c.985G>T (p.Glu329Ter)
c.*1084G>T (n.*1084G>T)
c.1003G>T (p.Glu335Ter)
c.*59G>T (n.*59G>T)
19g.11422813C>GCA404120431ODAD3c.1165G>C (p.Glu389Gln)
c.592G>C (p.Glu198Gln)
c.985G>C (p.Glu329Gln)
c.*1084G>C (n.*1084G>C)
c.1003G>C (p.Glu335Gln)
c.*59G>C (n.*59G>C)
19g.11422813C>TCA404120429ODAD3c.1165G>A (p.Glu389Lys)
c.592G>A (p.Glu198Lys)
c.985G>A (p.Glu329Lys)
c.*1084G>A (n.*1084G>A)
c.1003G>A (p.Glu335Lys)
c.*59G>A (n.*59G>A)
 gnomAD v4
19g.11422814C>ACA404120437ODAD3c.1164G>T (p.Leu388Phe)
c.591G>T (p.Leu197Phe)
c.984G>T (p.Leu328Phe)
c.*1083G>T (n.*1083G>T)
c.1002G>T (p.Leu334Phe)
c.*58G>T (n.*58G>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.11422814C=CA2322925031ODAD3c.1164G= (p.Leu388=)
c.591G= (p.Leu197=)
c.984G= (p.Leu328=)
c.*1083G= (n.*1083G=)
c.1002G= (p.Leu334=)
c.*58G= (n.*58G=)
19g.11422814C>GCA404120438ODAD3c.1164G>C (p.Leu388Phe)
c.591G>C (p.Leu197Phe)
c.984G>C (p.Leu328Phe)
c.*1083G>C (n.*1083G>C)
c.1002G>C (p.Leu334Phe)
c.*58G>C (n.*58G>C)
19g.11422814C>TCA9212098ODAD3c.1164G>A (p.Leu388=)
c.591G>A (p.Leu197=)
c.984G>A (p.Leu328=)
c.*1083G>A (n.*1083G>A)
c.1002G>A (p.Leu334=)
c.*58G>A (n.*58G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422815A>CCA404120441ODAD3c.1163T>G (p.Leu388Trp)
c.590T>G (p.Leu197Trp)
c.983T>G (p.Leu328Trp)
c.*1082T>G (n.*1082T>G)
c.1001T>G (p.Leu334Trp)
c.*57T>G (n.*57T>G)
 gnomAD v4
19g.11422815A>GCA404120443ODAD3c.1163T>C (p.Leu388Ser)
c.590T>C (p.Leu197Ser)
c.983T>C (p.Leu328Ser)
c.*1082T>C (n.*1082T>C)
c.1001T>C (p.Leu334Ser)
c.*57T>C (n.*57T>C)
19g.11422815A>TCA404120444ODAD3c.1163T>A (p.Leu388Ter)
c.590T>A (p.Leu197Ter)
c.983T>A (p.Leu328Ter)
c.*1082T>A (n.*1082T>A)
c.1001T>A (p.Leu334Ter)
c.*57T>A (n.*57T>A)
19g.11422816A=CA2322925032ODAD3c.1162T= (p.Leu388=)
c.589T= (p.Leu197=)
c.982T= (p.Leu328=)
c.*1081T= (n.*1081T=)
c.1000T= (p.Leu334=)
c.*56T= (n.*56T=)
19g.11422816A>CCA404120446ODAD3c.1162T>G (p.Leu388Val)
c.589T>G (p.Leu197Val)
c.982T>G (p.Leu328Val)
c.*1081T>G (n.*1081T>G)
c.1000T>G (p.Leu334Val)
c.*56T>G (n.*56T>G)
 dbSNP
19g.11422816A>GCA505749510ODAD3c.1162T>C (p.Leu388=)
c.589T>C (p.Leu197=)
c.982T>C (p.Leu328=)
c.*1081T>C (n.*1081T>C)
c.1000T>C (p.Leu334=)
c.*56T>C (n.*56T>C)
 gnomAD v4
19g.11422816A>TCA404120448ODAD3c.1162T>A (p.Leu388Met)
c.589T>A (p.Leu197Met)
c.982T>A (p.Leu328Met)
c.*1081T>A (n.*1081T>A)
c.1000T>A (p.Leu334Met)
c.*56T>A (n.*56T>A)
19g.11422817C>ACA404120449ODAD3c.1161G>T (p.Gln387His)
c.588G>T (p.Gln196His)
c.981G>T (p.Gln327His)
c.*1080G>T (n.*1080G>T)
c.999G>T (p.Gln333His)
c.*55G>T (n.*55G>T)
19g.11422817C>GCA404120450ODAD3c.1161G>C (p.Gln387His)
c.588G>C (p.Gln196His)
c.981G>C (p.Gln327His)
c.*1080G>C (n.*1080G>C)
c.999G>C (p.Gln333His)
c.*55G>C (n.*55G>C)
19g.11422817C>TCA505749511ODAD3c.1161G>A (p.Gln387=)
c.588G>A (p.Gln196=)
c.981G>A (p.Gln327=)
c.*1080G>A (n.*1080G>A)
c.999G>A (p.Gln333=)
c.*55G>A (n.*55G>A)
19g.11422818T>ACA404120451ODAD3c.1160A>T (p.Gln387Leu)
c.587A>T (p.Gln196Leu)
c.980A>T (p.Gln327Leu)
c.*1079A>T (n.*1079A>T)
c.998A>T (p.Gln333Leu)
c.*54A>T (n.*54A>T)
19g.11422818T>CCA404120452ODAD3c.1160A>G (p.Gln387Arg)
c.587A>G (p.Gln196Arg)
c.980A>G (p.Gln327Arg)
c.*1079A>G (n.*1079A>G)
c.998A>G (p.Gln333Arg)
c.*54A>G (n.*54A>G)
19g.11422818T>GCA404120453ODAD3c.1160A>C (p.Gln387Pro)
c.587A>C (p.Gln196Pro)
c.980A>C (p.Gln327Pro)
c.*1079A>C (n.*1079A>C)
c.998A>C (p.Gln333Pro)
c.*54A>C (n.*54A>C)
 gnomAD v4
19g.11422819G>ACA404120456ODAD3c.1159C>T (p.Gln387Ter)
c.586C>T (p.Gln196Ter)
c.979C>T (p.Gln327Ter)
c.*1078C>T (n.*1078C>T)
c.997C>T (p.Gln333Ter)
c.*53C>T (n.*53C>T)
19g.11422819G>CCA404120454ODAD3c.1159C>G (p.Gln387Glu)
c.586C>G (p.Gln196Glu)
c.979C>G (p.Gln327Glu)
c.*1078C>G (n.*1078C>G)
c.997C>G (p.Gln333Glu)
c.*53C>G (n.*53C>G)
19g.11422819G>TCA404120455ODAD3c.1159C>A (p.Gln387Lys)
c.586C>A (p.Gln196Lys)
c.979C>A (p.Gln327Lys)
c.*1078C>A (n.*1078C>A)
c.997C>A (p.Gln333Lys)
c.*53C>A (n.*53C>A)
 gnomAD v4
19g.11422820C>ACA505749513ODAD3c.1158G>T (p.Ala386=)
c.585G>T (p.Ala195=)
c.978G>T (p.Ala326=)
c.*1077G>T (n.*1077G>T)
c.996G>T (p.Ala332=)
c.*52G>T (n.*52G>T)
 dbSNP gnomAD v2
19g.11422820C=CA2322925033ODAD3c.1158G= (p.Ala386=)
c.585G= (p.Ala195=)
c.978G= (p.Ala326=)
c.*1077G= (n.*1077G=)
c.996G= (p.Ala332=)
c.*52G= (n.*52G=)
19g.11422820C>GCA505749514ODAD3c.1158G>C (p.Ala386=)
c.585G>C (p.Ala195=)
c.978G>C (p.Ala326=)
c.*1077G>C (n.*1077G>C)
c.996G>C (p.Ala332=)
c.*52G>C (n.*52G>C)
19g.11422820C>TCA505749515ODAD3c.1158G>A (p.Ala386=)
c.585G>A (p.Ala195=)
c.978G>A (p.Ala326=)
c.*1077G>A (n.*1077G>A)
c.996G>A (p.Ala332=)
c.*52G>A (n.*52G>A)
 gnomAD v4
19g.11422821G>ACA9212099ODAD3c.1157C>T (p.Ala386Val)
c.584C>T (p.Ala195Val)
c.977C>T (p.Ala326Val)
c.*1076C>T (n.*1076C>T)
c.995C>T (p.Ala332Val)
c.*51C>T (n.*51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422821G>CCA404120458ODAD3c.1157C>G (p.Ala386Gly)
c.584C>G (p.Ala195Gly)
c.977C>G (p.Ala326Gly)
c.*1076C>G (n.*1076C>G)
c.995C>G (p.Ala332Gly)
c.*51C>G (n.*51C>G)
19g.11422821G=CA2322925034ODAD3c.1157C= (p.Ala386=)
c.584C= (p.Ala195=)
c.977C= (p.Ala326=)
c.*1076C= (n.*1076C=)
c.995C= (p.Ala332=)
c.*51C= (n.*51C=)
19g.11422821G>TCA404120459ODAD3c.1157C>A (p.Ala386Glu)
c.584C>A (p.Ala195Glu)
c.977C>A (p.Ala326Glu)
c.*1076C>A (n.*1076C>A)
c.995C>A (p.Ala332Glu)
c.*51C>A (n.*51C>A)
 gnomAD v4
19g.11422822C>ACA404120462ODAD3c.1156G>T (p.Ala386Ser)
c.583G>T (p.Ala195Ser)
c.976G>T (p.Ala326Ser)
c.*1075G>T (n.*1075G>T)
c.994G>T (p.Ala332Ser)
c.*50G>T (n.*50G>T)
 gnomAD v4
19g.11422822C>GCA404120463ODAD3c.1156G>C (p.Ala386Pro)
c.583G>C (p.Ala195Pro)
c.976G>C (p.Ala326Pro)
c.*1075G>C (n.*1075G>C)
c.994G>C (p.Ala332Pro)
c.*50G>C (n.*50G>C)
19g.11422822C>TCA404120465ODAD3c.1156G>A (p.Ala386Thr)
c.583G>A (p.Ala195Thr)
c.976G>A (p.Ala326Thr)
c.*1075G>A (n.*1075G>A)
c.994G>A (p.Ala332Thr)
c.*50G>A (n.*50G>A)
19g.11422823G>ACA505749519ODAD3c.1155C>T (p.Phe385=)
c.582C>T (p.Phe194=)
c.975C>T (p.Phe325=)
c.*1074C>T (n.*1074C>T)
c.993C>T (p.Phe331=)
c.*49C>T (n.*49C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.11422823G>CCA404120467ODAD3c.1155C>G (p.Phe385Leu)
c.582C>G (p.Phe194Leu)
c.975C>G (p.Phe325Leu)
c.*1074C>G (n.*1074C>G)
c.993C>G (p.Phe331Leu)
c.*49C>G (n.*49C>G)
19g.11422823G=CA2322925035ODAD3c.1155C= (p.Phe385=)
c.582C= (p.Phe194=)
c.975C= (p.Phe325=)
c.*1074C= (n.*1074C=)
c.993C= (p.Phe331=)
c.*49C= (n.*49C=)
19g.11422823G>TCA404120469ODAD3c.1155C>A (p.Phe385Leu)
c.582C>A (p.Phe194Leu)
c.975C>A (p.Phe325Leu)
c.*1074C>A (n.*1074C>A)
c.993C>A (p.Phe331Leu)
c.*49C>A (n.*49C>A)
 gnomAD v4
19g.11422824A>CCA404120471ODAD3c.1154T>G (p.Phe385Cys)
c.581T>G (p.Phe194Cys)
c.974T>G (p.Phe325Cys)
c.*1073T>G (n.*1073T>G)
c.992T>G (p.Phe331Cys)
c.*48T>G (n.*48T>G)
19g.11422824A>GCA404120473ODAD3c.1154T>C (p.Phe385Ser)
c.581T>C (p.Phe194Ser)
c.974T>C (p.Phe325Ser)
c.*1073T>C (n.*1073T>C)
c.992T>C (p.Phe331Ser)
c.*48T>C (n.*48T>C)
19g.11422824A>TCA404120475ODAD3c.1154T>A (p.Phe385Tyr)
c.581T>A (p.Phe194Tyr)
c.974T>A (p.Phe325Tyr)
c.*1073T>A (n.*1073T>A)
c.992T>A (p.Phe331Tyr)
c.*48T>A (n.*48T>A)
19g.11422825A=CA2322925036ODAD3c.1153T= (p.Phe385=)
c.580T= (p.Phe194=)
c.973T= (p.Phe325=)
c.*1072T= (n.*1072T=)
c.991T= (p.Phe331=)
c.*47T= (n.*47T=)
19g.11422825A>CCA404120480ODAD3c.1153T>G (p.Phe385Val)
c.580T>G (p.Phe194Val)
c.973T>G (p.Phe325Val)
c.*1072T>G (n.*1072T>G)
c.991T>G (p.Phe331Val)
c.*47T>G (n.*47T>G)
19g.11422825A>GCA404120479ODAD3c.1153T>C (p.Phe385Leu)
c.580T>C (p.Phe194Leu)
c.973T>C (p.Phe325Leu)
c.*1072T>C (n.*1072T>C)
c.991T>C (p.Phe331Leu)
c.*47T>C (n.*47T>C)
 dbSNP
19g.11422825A>TCA404120478ODAD3c.1153T>A (p.Phe385Ile)
c.580T>A (p.Phe194Ile)
c.973T>A (p.Phe325Ile)
c.*1072T>A (n.*1072T>A)
c.991T>A (p.Phe331Ile)
c.*47T>A (n.*47T>A)
19g.11422826G>ACA505749521ODAD3c.1152C>T (p.Thr384=)
c.579C>T (p.Thr193=)
c.972C>T (p.Thr324=)
c.*1071C>T (n.*1071C>T)
c.990C>T (p.Thr330=)
c.*46C>T (n.*46C>T)
19g.11422826G>CCA505749522ODAD3c.1152C>G (p.Thr384=)
c.579C>G (p.Thr193=)
c.972C>G (p.Thr324=)
c.*1071C>G (n.*1071C>G)
c.990C>G (p.Thr330=)
c.*46C>G (n.*46C>G)
19g.11422826G>TCA505749523ODAD3c.1152C>A (p.Thr384=)
c.579C>A (p.Thr193=)
c.972C>A (p.Thr324=)
c.*1071C>A (n.*1071C>A)
c.990C>A (p.Thr330=)
c.*46C>A (n.*46C>A)
 gnomAD v4
19g.11422827G>ACA404120481ODAD3c.1151C>T (p.Thr384Ile)
c.578C>T (p.Thr193Ile)
c.971C>T (p.Thr324Ile)
c.*1070C>T (n.*1070C>T)
c.989C>T (p.Thr330Ile)
c.*45C>T (n.*45C>T)
 gnomAD v4
19g.11422827G>CCA404120485ODAD3c.1151C>G (p.Thr384Ser)
c.578C>G (p.Thr193Ser)
c.971C>G (p.Thr324Ser)
c.*1070C>G (n.*1070C>G)
c.989C>G (p.Thr330Ser)
c.*45C>G (n.*45C>G)
19g.11422827G>TCA404120483ODAD3c.1151C>A (p.Thr384Asn)
c.578C>A (p.Thr193Asn)
c.971C>A (p.Thr324Asn)
c.*1070C>A (n.*1070C>A)
c.989C>A (p.Thr330Asn)
c.*45C>A (n.*45C>A)
 gnomAD v4
19g.11422828T>ACA404120487ODAD3c.1150A>T (p.Thr384Ser)
c.577A>T (p.Thr193Ser)
c.970A>T (p.Thr324Ser)
c.*1069A>T (n.*1069A>T)
c.988A>T (p.Thr330Ser)
c.*44A>T (n.*44A>T)
 gnomAD v4
19g.11422828T>CCA404120489ODAD3c.1150A>G (p.Thr384Ala)
c.577A>G (p.Thr193Ala)
c.970A>G (p.Thr324Ala)
c.*1069A>G (n.*1069A>G)
c.988A>G (p.Thr330Ala)
c.*44A>G (n.*44A>G)
19g.11422828T>GCA404120488ODAD3c.1150A>C (p.Thr384Pro)
c.577A>C (p.Thr193Pro)
c.970A>C (p.Thr324Pro)
c.*1069A>C (n.*1069A>C)
c.988A>C (p.Thr330Pro)
c.*44A>C (n.*44A>C)
19g.11422829G>ACA505749524ODAD3c.1149C>T (p.Asp383=)
c.576C>T (p.Asp192=)
c.969C>T (p.Asp323=)
c.*1068C>T (n.*1068C>T)
c.987C>T (p.Asp329=)
c.*43C>T (n.*43C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.11422829G>CCA404120490ODAD3c.1149C>G (p.Asp383Glu)
c.576C>G (p.Asp192Glu)
c.969C>G (p.Asp323Glu)
c.*1068C>G (n.*1068C>G)
c.987C>G (p.Asp329Glu)
c.*43C>G (n.*43C>G)
19g.11422829G=CA2322925037ODAD3c.1149C= (p.Asp383=)
c.576C= (p.Asp192=)
c.969C= (p.Asp323=)
c.*1068C= (n.*1068C=)
c.987C= (p.Asp329=)
c.*43C= (n.*43C=)
19g.11422829G>TCA404120491ODAD3c.1149C>A (p.Asp383Glu)
c.576C>A (p.Asp192Glu)
c.969C>A (p.Asp323Glu)
c.*1068C>A (n.*1068C>A)
c.987C>A (p.Asp329Glu)
c.*43C>A (n.*43C>A)
 gnomAD v4
19g.11422830T>ACA404120493ODAD3c.1148A>T (p.Asp383Val)
c.575A>T (p.Asp192Val)
c.968A>T (p.Asp323Val)
c.*1067A>T (n.*1067A>T)
c.986A>T (p.Asp329Val)
c.*42A>T (n.*42A>T)
19g.11422830T>CCA404120495ODAD3c.1148A>G (p.Asp383Gly)
c.575A>G (p.Asp192Gly)
c.968A>G (p.Asp323Gly)
c.*1067A>G (n.*1067A>G)
c.986A>G (p.Asp329Gly)
c.*42A>G (n.*42A>G)
 gnomAD v4
19g.11422830T>GCA404120497ODAD3c.1148A>C (p.Asp383Ala)
c.575A>C (p.Asp192Ala)
c.968A>C (p.Asp323Ala)
c.*1067A>C (n.*1067A>C)
c.986A>C (p.Asp329Ala)
c.*42A>C (n.*42A>C)
19g.11422830dupCA632116899ODAD3c.1148dup (p.Asp383GlufsTer?)
c.575dup (p.Asp192GlufsTer?)
c.968dup (p.Asp323GlufsTer?)
c.*1067dup (n.*1067dup)
c.986dup (p.Asp329GlufsTer?)
c.*42dup (n.*42dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11422831C>ACA404120499ODAD3c.1147G>T (p.Asp383Tyr)
c.574G>T (p.Asp192Tyr)
c.967G>T (p.Asp323Tyr)
c.*1066G>T (n.*1066G>T)
c.985G>T (p.Asp329Tyr)
c.*41G>T (n.*41G>T)
19g.11422831C>GCA404120501ODAD3c.1147G>C (p.Asp383His)
c.574G>C (p.Asp192His)
c.967G>C (p.Asp323His)
c.*1066G>C (n.*1066G>C)
c.985G>C (p.Asp329His)
c.*41G>C (n.*41G>C)
19g.11422831C>TCA404120503ODAD3c.1147G>A (p.Asp383Asn)
c.574G>A (p.Asp192Asn)
c.967G>A (p.Asp323Asn)
c.*1066G>A (n.*1066G>A)
c.985G>A (p.Asp329Asn)
c.*41G>A (n.*41G>A)
 gnomAD v4
19g.11422832G>ACA505749528ODAD3c.1146C>T (p.Gly382=)
c.573C>T (p.Gly191=)
c.966C>T (p.Gly322=)
c.*1065C>T (n.*1065C>T)
c.984C>T (p.Gly328=)
c.*40C>T (n.*40C>T)
 gnomAD v4
19g.11422832G>CCA505749529ODAD3c.1146C>G (p.Gly382=)
c.573C>G (p.Gly191=)
c.966C>G (p.Gly322=)
c.*1065C>G (n.*1065C>G)
c.984C>G (p.Gly328=)
c.*40C>G (n.*40C>G)
19g.11422832G>TCA505749530ODAD3c.1146C>A (p.Gly382=)
c.573C>A (p.Gly191=)
c.966C>A (p.Gly322=)
c.*1065C>A (n.*1065C>A)
c.984C>A (p.Gly328=)
c.*40C>A (n.*40C>A)
 gnomAD v4
19g.11422833C>ACA404120505ODAD3c.1145G>T (p.Gly382Val)
c.572G>T (p.Gly191Val)
c.965G>T (p.Gly322Val)
c.*1064G>T (n.*1064G>T)
c.983G>T (p.Gly328Val)
c.*39G>T (n.*39G>T)
 gnomAD v4
19g.11422833C=CA2322925038ODAD3c.1145G= (p.Gly382=)
c.572G= (p.Gly191=)
c.965G= (p.Gly322=)
c.*1064G= (n.*1064G=)
c.983G= (p.Gly328=)
c.*39G= (n.*39G=)
19g.11422833C>GCA404120507ODAD3c.1145G>C (p.Gly382Ala)
c.572G>C (p.Gly191Ala)
c.965G>C (p.Gly322Ala)
c.*1064G>C (n.*1064G>C)
c.983G>C (p.Gly328Ala)
c.*39G>C (n.*39G>C)
19g.11422833C>TCA404120509ODAD3c.1145G>A (p.Gly382Asp)
c.572G>A (p.Gly191Asp)
c.965G>A (p.Gly322Asp)
c.*1064G>A (n.*1064G>A)
c.983G>A (p.Gly328Asp)
c.*39G>A (n.*39G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.11422834C>ACA404120511ODAD3c.1144G>T (p.Gly382Cys)
c.571G>T (p.Gly191Cys)
c.964G>T (p.Gly322Cys)
c.*1063G>T (n.*1063G>T)
c.982G>T (p.Gly328Cys)
c.*38G>T (n.*38G>T)
19g.11422834C>GCA404120513ODAD3c.1144G>C (p.Gly382Arg)
c.571G>C (p.Gly191Arg)
c.964G>C (p.Gly322Arg)
c.*1063G>C (n.*1063G>C)
c.982G>C (p.Gly328Arg)
c.*38G>C (n.*38G>C)
19g.11422834C>TCA404120515ODAD3c.1144G>A (p.Gly382Ser)
c.571G>A (p.Gly191Ser)
c.964G>A (p.Gly322Ser)
c.*1063G>A (n.*1063G>A)
c.982G>A (p.Gly328Ser)
c.*38G>A (n.*38G>A)
 gnomAD v4
19g.11422835C>ACA404120517ODAD3c.1143G>T (p.Gln381His)
c.570G>T (p.Gln190His)
c.963G>T (p.Gln321His)
c.*1062G>T (n.*1062G>T)
c.981G>T (p.Gln327His)
c.*37G>T (n.*37G>T)
19g.11422835C=CA2322925039ODAD3c.1143G= (p.Gln381=)
c.570G= (p.Gln190=)
c.963G= (p.Gln321=)
c.*1062G= (n.*1062G=)
c.981G= (p.Gln327=)
c.*37G= (n.*37G=)
19g.11422835C>GCA404120518ODAD3c.1143G>C (p.Gln381His)
c.570G>C (p.Gln190His)
c.963G>C (p.Gln321His)
c.*1062G>C (n.*1062G>C)
c.981G>C (p.Gln327His)
c.*37G>C (n.*37G>C)
19g.11422835C>TCA505749532ODAD3c.1143G>A (p.Gln381=)
c.570G>A (p.Gln190=)
c.963G>A (p.Gln321=)
c.*1062G>A (n.*1062G>A)
c.981G>A (p.Gln327=)
c.*37G>A (n.*37G>A)
 dbSNP gnomAD v2
19g.11422836T>ACA404120521ODAD3c.1142A>T (p.Gln381Leu)
c.569A>T (p.Gln190Leu)
c.962A>T (p.Gln321Leu)
c.*1061A>T (n.*1061A>T)
c.980A>T (p.Gln327Leu)
c.*36A>T (n.*36A>T)
19g.11422836T>CCA404120523ODAD3c.1142A>G (p.Gln381Arg)
c.569A>G (p.Gln190Arg)
c.962A>G (p.Gln321Arg)
c.*1061A>G (n.*1061A>G)
c.980A>G (p.Gln327Arg)
c.*36A>G (n.*36A>G)
19g.11422836T>GCA404120525ODAD3c.1142A>C (p.Gln381Pro)
c.569A>C (p.Gln190Pro)
c.962A>C (p.Gln321Pro)
c.*1061A>C (n.*1061A>C)
c.980A>C (p.Gln327Pro)
c.*36A>C (n.*36A>C)
 gnomAD v4
19g.11422837G>ACA9212100ODAD3c.1141C>T (p.Gln381Ter)
c.568C>T (p.Gln190Ter)
c.961C>T (p.Gln321Ter)
c.*1060C>T (n.*1060C>T)
c.979C>T (p.Gln327Ter)
c.*35C>T (n.*35C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422837G>CCA404120527ODAD3c.1141C>G (p.Gln381Glu)
c.568C>G (p.Gln190Glu)
c.961C>G (p.Gln321Glu)
c.*1060C>G (n.*1060C>G)
c.979C>G (p.Gln327Glu)
c.*35C>G (n.*35C>G)
19g.11422837G=CA2322925040ODAD3c.1141C= (p.Gln381=)
c.568C= (p.Gln190=)
c.961C= (p.Gln321=)
c.*1060C= (n.*1060C=)
c.979C= (p.Gln327=)
c.*35C= (n.*35C=)
19g.11422837G>TCA404120529ODAD3c.1141C>A (p.Gln381Lys)
c.568C>A (p.Gln190Lys)
c.961C>A (p.Gln321Lys)
c.*1060C>A (n.*1060C>A)
c.979C>A (p.Gln327Lys)
c.*35C>A (n.*35C>A)
 gnomAD v4
19g.11422838G>ACA505749534ODAD3c.1140C>T (p.Ala380=)
c.567C>T (p.Ala189=)
c.960C>T (p.Ala320=)
c.*1059C>T (n.*1059C>T)
c.978C>T (p.Ala326=)
c.*34C>T (n.*34C>T)
 dbSNP
19g.11422838G>CCA505749535ODAD3c.1140C>G (p.Ala380=)
c.567C>G (p.Ala189=)
c.960C>G (p.Ala320=)
c.*1059C>G (n.*1059C>G)
c.978C>G (p.Ala326=)
c.*34C>G (n.*34C>G)
 dbSNP
19g.11422838G=CA2322925041ODAD3c.1140C= (p.Ala380=)
c.567C= (p.Ala189=)
c.960C= (p.Ala320=)
c.*1059C= (n.*1059C=)
c.978C= (p.Ala326=)
c.*34C= (n.*34C=)
19g.11422838G>TCA505749536ODAD3c.1140C>A (p.Ala380=)
c.567C>A (p.Ala189=)
c.960C>A (p.Ala320=)
c.*1059C>A (n.*1059C>A)
c.978C>A (p.Ala326=)
c.*34C>A (n.*34C>A)
 gnomAD v4
19g.11422839G>ACA404120531ODAD3c.1139C>T (p.Ala380Val)
c.566C>T (p.Ala189Val)
c.959C>T (p.Ala320Val)
c.*1058C>T (n.*1058C>T)
c.977C>T (p.Ala326Val)
c.*33C>T (n.*33C>T)
 dbSNP gnomAD v4
19g.11422839G>CCA404120533ODAD3c.1139C>G (p.Ala380Gly)
c.566C>G (p.Ala189Gly)
c.959C>G (p.Ala320Gly)
c.*1058C>G (n.*1058C>G)
c.977C>G (p.Ala326Gly)
c.*33C>G (n.*33C>G)
19g.11422839G=CA2322925042ODAD3c.1139C= (p.Ala380=)
c.566C= (p.Ala189=)
c.959C= (p.Ala320=)
c.*1058C= (n.*1058C=)
c.977C= (p.Ala326=)
c.*33C= (n.*33C=)
19g.11422839G>TCA404120535ODAD3c.1139C>A (p.Ala380Asp)
c.566C>A (p.Ala189Asp)
c.959C>A (p.Ala320Asp)
c.*1058C>A (n.*1058C>A)
c.977C>A (p.Ala326Asp)
c.*33C>A (n.*33C>A)
 gnomAD v4
19g.11422840C>ACA404120537ODAD3c.1138G>T (p.Ala380Ser)
c.565G>T (p.Ala189Ser)
c.958G>T (p.Ala320Ser)
c.*1057G>T (n.*1057G>T)
c.976G>T (p.Ala326Ser)
c.*32G>T (n.*32G>T)
 gnomAD v4
19g.11422840C=CA2322925043ODAD3c.1138G= (p.Ala380=)
c.565G= (p.Ala189=)
c.958G= (p.Ala320=)
c.*1057G= (n.*1057G=)
c.976G= (p.Ala326=)
c.*32G= (n.*32G=)
19g.11422840C>GCA404120538ODAD3c.1138G>C (p.Ala380Pro)
c.565G>C (p.Ala189Pro)
c.958G>C (p.Ala320Pro)
c.*1057G>C (n.*1057G>C)
c.976G>C (p.Ala326Pro)
c.*32G>C (n.*32G>C)
19g.11422840C>TCA404120539ODAD3c.1138G>A (p.Ala380Thr)
c.565G>A (p.Ala189Thr)
c.958G>A (p.Ala320Thr)
c.*1057G>A (n.*1057G>A)
c.976G>A (p.Ala326Thr)
c.*32G>A (n.*32G>A)
 dbSNP gnomAD v4
19g.11422841C>ACA505749538ODAD3c.1137G>T (p.Leu379=)
c.564G>T (p.Leu188=)
c.957G>T (p.Leu319=)
c.*1056G>T (n.*1056G>T)
c.975G>T (p.Leu325=)
c.*31G>T (n.*31G>T)
19g.11422841C=CA2322925044ODAD3c.1137G= (p.Leu379=)
c.564G= (p.Leu188=)
c.957G= (p.Leu319=)
c.*1056G= (n.*1056G=)
c.975G= (p.Leu325=)
c.*31G= (n.*31G=)
19g.11422841C>GCA505749539ODAD3c.1137G>C (p.Leu379=)
c.564G>C (p.Leu188=)
c.957G>C (p.Leu319=)
c.*1056G>C (n.*1056G>C)
c.975G>C (p.Leu325=)
c.*31G>C (n.*31G>C)
19g.11422841C>TCA505749540ODAD3c.1137G>A (p.Leu379=)
c.564G>A (p.Leu188=)
c.957G>A (p.Leu319=)
c.*1056G>A (n.*1056G>A)
c.975G>A (p.Leu325=)
c.*31G>A (n.*31G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11422842A=CA2322925045ODAD3c.1136T= (p.Leu379=)
c.563T= (p.Leu188=)
c.956T= (p.Leu319=)
c.*1055T= (n.*1055T=)
c.974T= (p.Leu325=)
c.*30T= (n.*30T=)
19g.11422842A>CCA404120542ODAD3c.1136T>G (p.Leu379Arg)
c.563T>G (p.Leu188Arg)
c.956T>G (p.Leu319Arg)
c.*1055T>G (n.*1055T>G)
c.974T>G (p.Leu325Arg)
c.*30T>G (n.*30T>G)
19g.11422842A>GCA404120546ODAD3c.1136T>C (p.Leu379Pro)
c.563T>C (p.Leu188Pro)
c.956T>C (p.Leu319Pro)
c.*1055T>C (n.*1055T>C)
c.974T>C (p.Leu325Pro)
c.*30T>C (n.*30T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.11422842A>TCA404120544ODAD3c.1136T>A (p.Leu379Gln)
c.563T>A (p.Leu188Gln)
c.956T>A (p.Leu319Gln)
c.*1055T>A (n.*1055T>A)
c.974T>A (p.Leu325Gln)
c.*30T>A (n.*30T>A)
19g.11422843G>ACA9212101ODAD3c.1135C>T (p.Leu379=)
c.562C>T (p.Leu188=)
c.955C>T (p.Leu319=)
c.*1054C>T (n.*1054C>T)
c.973C>T (p.Leu325=)
c.*29C>T (n.*29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422843G>CCA404120549ODAD3c.1135C>G (p.Leu379Val)
c.562C>G (p.Leu188Val)
c.955C>G (p.Leu319Val)
c.*1054C>G (n.*1054C>G)
c.973C>G (p.Leu325Val)
c.*29C>G (n.*29C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.11422843G=CA2322925046ODAD3c.1135C= (p.Leu379=)
c.562C= (p.Leu188=)
c.955C= (p.Leu319=)
c.*1054C= (n.*1054C=)
c.973C= (p.Leu325=)
c.*29C= (n.*29C=)
19g.11422843G>TCA404120550ODAD3c.1135C>A (p.Leu379Met)
c.562C>A (p.Leu188Met)
c.955C>A (p.Leu319Met)
c.*1054C>A (n.*1054C>A)
c.973C>A (p.Leu325Met)
c.*29C>A (n.*29C>A)
 gnomAD v4
19g.11422844G>ACA505749544ODAD3c.1134C>T (p.Phe378=)
c.561C>T (p.Phe187=)
c.954C>T (p.Phe318=)
c.*1053C>T (n.*1053C>T)
c.972C>T (p.Phe324=)
c.*28C>T (n.*28C>T)
 gnomAD v4
19g.11422844G>CCA404120552ODAD3c.1134C>G (p.Phe378Leu)
c.561C>G (p.Phe187Leu)
c.954C>G (p.Phe318Leu)
c.*1053C>G (n.*1053C>G)
c.972C>G (p.Phe324Leu)
c.*28C>G (n.*28C>G)
19g.11422844G>TCA404120554ODAD3c.1134C>A (p.Phe378Leu)
c.561C>A (p.Phe187Leu)
c.954C>A (p.Phe318Leu)
c.*1053C>A (n.*1053C>A)
c.972C>A (p.Phe324Leu)
c.*28C>A (n.*28C>A)
 gnomAD v4
19g.11422845A>CCA404120556ODAD3c.1133T>G (p.Phe378Cys)
c.560T>G (p.Phe187Cys)
c.953T>G (p.Phe318Cys)
c.*1052T>G (n.*1052T>G)
c.971T>G (p.Phe324Cys)
c.*27T>G (n.*27T>G)
19g.11422845A>GCA404120558ODAD3c.1133T>C (p.Phe378Ser)
c.560T>C (p.Phe187Ser)
c.953T>C (p.Phe318Ser)
c.*1052T>C (n.*1052T>C)
c.971T>C (p.Phe324Ser)
c.*27T>C (n.*27T>C)
19g.11422845A>TCA404120560ODAD3c.1133T>A (p.Phe378Tyr)
c.560T>A (p.Phe187Tyr)
c.953T>A (p.Phe318Tyr)
c.*1052T>A (n.*1052T>A)
c.971T>A (p.Phe324Tyr)
c.*27T>A (n.*27T>A)
19g.11422846A=CA2322925047ODAD3c.1132T= (p.Phe378=)
c.559T= (p.Phe187=)
c.952T= (p.Phe318=)
c.*1051T= (n.*1051T=)
c.970T= (p.Phe324=)
c.*26T= (n.*26T=)
19g.11422846A>CCA404120562ODAD3c.1132T>G (p.Phe378Val)
c.559T>G (p.Phe187Val)
c.952T>G (p.Phe318Val)
c.*1051T>G (n.*1051T>G)
c.970T>G (p.Phe324Val)
c.*26T>G (n.*26T>G)
 gnomAD v4
19g.11422846A>GCA404120563ODAD3c.1132T>C (p.Phe378Leu)
c.559T>C (p.Phe187Leu)
c.952T>C (p.Phe318Leu)
c.*1051T>C (n.*1051T>C)
c.970T>C (p.Phe324Leu)
c.*26T>C (n.*26T>C)
 dbSNP
19g.11422846A>TCA404120565ODAD3c.1132T>A (p.Phe378Ile)
c.559T>A (p.Phe187Ile)
c.952T>A (p.Phe318Ile)
c.*1051T>A (n.*1051T>A)
c.970T>A (p.Phe324Ile)
c.*26T>A (n.*26T>A)
19g.11422847C>ACA505749547ODAD3c.1131G>T (p.Arg377=)
c.558G>T (p.Arg186=)
c.951G>T (p.Arg317=)
c.*1050G>T (n.*1050G>T)
c.969G>T (p.Arg323=)
c.*25G>T (n.*25G>T)
 COSMIC
19g.11422847C>GCA505749549ODAD3c.1131G>C (p.Arg377=)
c.558G>C (p.Arg186=)
c.951G>C (p.Arg317=)
c.*1050G>C (n.*1050G>C)
c.969G>C (p.Arg323=)
c.*25G>C (n.*25G>C)
19g.11422847C>TCA505749548ODAD3c.1131G>A (p.Arg377=)
c.558G>A (p.Arg186=)
c.951G>A (p.Arg317=)
c.*1050G>A (n.*1050G>A)
c.969G>A (p.Arg323=)
c.*25G>A (n.*25G>A)
 gnomAD v4
19g.11422848dupCA645602692ODAD3c.1131dup (p.Phe378ValfsTer?)
c.558dup (p.Phe187ValfsTer?)
c.951dup (p.Phe318ValfsTer?)
c.*1050dup (n.*1050dup)
c.969dup (p.Phe324ValfsTer?)
c.*25dup (n.*25dup)
 COSMIC
19g.11422847_11422848insGCA505749550ODAD3c.1130_1131insC (p.Phe378ValfsTer?)
c.557_558insC (p.Phe187ValfsTer?)
c.950_951insC (p.Phe318ValfsTer?)
c.*1049_*1050insC (n.*1049_*1050insC)
c.968_969insC (p.Phe324ValfsTer?)
c.*24_*25insC (n.*24_*25insC)
19g.11422848C>ACA404120570ODAD3c.1130G>T (p.Arg377Leu)
c.557G>T (p.Arg186Leu)
c.950G>T (p.Arg317Leu)
c.*1049G>T (n.*1049G>T)
c.968G>T (p.Arg323Leu)
c.*24G>T (n.*24G>T)
19g.11422848C=CA2322925048ODAD3c.1130G= (p.Arg377=)
c.557G= (p.Arg186=)
c.950G= (p.Arg317=)
c.*1049G= (n.*1049G=)
c.968G= (p.Arg323=)
c.*24G= (n.*24G=)
19g.11422848C>GCA404120567ODAD3c.1130G>C (p.Arg377Pro)
c.557G>C (p.Arg186Pro)
c.950G>C (p.Arg317Pro)
c.*1049G>C (n.*1049G>C)
c.968G>C (p.Arg323Pro)
c.*24G>C (n.*24G>C)
19g.11422848C>TCA9212102ODAD3c.1130G>A (p.Arg377Gln)
c.557G>A (p.Arg186Gln)
c.950G>A (p.Arg317Gln)
c.*1049G>A (n.*1049G>A)
c.968G>A (p.Arg323Gln)
c.*24G>A (n.*24G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422849G>ACA9212103ODAD3c.1129C>T (p.Arg377Trp)
c.556C>T (p.Arg186Trp)
c.949C>T (p.Arg317Trp)
c.*1048C>T (n.*1048C>T)
c.967C>T (p.Arg323Trp)
c.*23C>T (n.*23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422849G>CCA9212104ODAD3c.1129C>G (p.Arg377Gly)
c.556C>G (p.Arg186Gly)
c.949C>G (p.Arg317Gly)
c.*1048C>G (n.*1048C>G)
c.967C>G (p.Arg323Gly)
c.*23C>G (n.*23C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422849G=CA2322925049ODAD3c.1129C= (p.Arg377=)
c.556C= (p.Arg186=)
c.949C= (p.Arg317=)
c.*1048C= (n.*1048C=)
c.967C= (p.Arg323=)
c.*23C= (n.*23C=)
19g.11422849G>TCA505749551ODAD3c.1129C>A (p.Arg377=)
c.556C>A (p.Arg186=)
c.949C>A (p.Arg317=)
c.*1048C>A (n.*1048C>A)
c.967C>A (p.Arg323=)
c.*23C>A (n.*23C>A)
 gnomAD v4
19g.11422850C>ACA505749553ODAD3c.1128G>T (p.Arg376=)
c.555G>T (p.Arg185=)
c.948G>T (p.Arg316=)
c.*1047G>T (n.*1047G>T)
c.966G>T (p.Arg322=)
c.*22G>T (n.*22G>T)
19g.11422850C>GCA505749555ODAD3c.1128G>C (p.Arg376=)
c.555G>C (p.Arg185=)
c.948G>C (p.Arg316=)
c.*1047G>C (n.*1047G>C)
c.966G>C (p.Arg322=)
c.*22G>C (n.*22G>C)
19g.11422850C>TCA505749554ODAD3c.1128G>A (p.Arg376=)
c.555G>A (p.Arg185=)
c.948G>A (p.Arg316=)
c.*1047G>A (n.*1047G>A)
c.966G>A (p.Arg322=)
c.*22G>A (n.*22G>A)
 gnomAD v4
19g.11422851C>ACA404120574ODAD3c.1127G>T (p.Arg376Leu)
c.554G>T (p.Arg185Leu)
c.947G>T (p.Arg316Leu)
c.*1046G>T (n.*1046G>T)
c.965G>T (p.Arg322Leu)
c.*21G>T (n.*21G>T)
 ClinVar gnomAD v4
19g.11422851C>GCA404120575ODAD3c.1127G>C (p.Arg376Pro)
c.554G>C (p.Arg185Pro)
c.947G>C (p.Arg316Pro)
c.*1046G>C (n.*1046G>C)
c.965G>C (p.Arg322Pro)
c.*21G>C (n.*21G>C)
19g.11422851C>TCA404120576ODAD3c.1127G>A (p.Arg376Gln)
c.554G>A (p.Arg185Gln)
c.947G>A (p.Arg316Gln)
c.*1046G>A (n.*1046G>A)
c.965G>A (p.Arg322Gln)
c.*21G>A (n.*21G>A)
 gnomAD v4
19g.11422852G>ACA404120578ODAD3c.1126C>T (p.Arg376Trp)
c.553C>T (p.Arg185Trp)
c.946C>T (p.Arg316Trp)
c.*1045C>T (n.*1045C>T)
c.964C>T (p.Arg322Trp)
c.*20C>T (n.*20C>T)
 gnomAD v4 COSMIC
19g.11422852G>CCA404120580ODAD3c.1126C>G (p.Arg376Gly)
c.553C>G (p.Arg185Gly)
c.946C>G (p.Arg316Gly)
c.*1045C>G (n.*1045C>G)
c.964C>G (p.Arg322Gly)
c.*20C>G (n.*20C>G)
19g.11422852G=CA2322925050ODAD3c.1126C= (p.Arg376=)
c.553C= (p.Arg185=)
c.946C= (p.Arg316=)
c.*1045C= (n.*1045C=)
c.964C= (p.Arg322=)
c.*20C= (n.*20C=)
19g.11422852G>TCA9212105ODAD3c.1126C>A (p.Arg376=)
c.553C>A (p.Arg185=)
c.946C>A (p.Arg316=)
c.*1045C>A (n.*1045C>A)
c.964C>A (p.Arg322=)
c.*20C>A (n.*20C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11422853C>ACA505749557ODAD3c.1125G>T (p.Val375=)
c.552G>T (p.Val184=)
c.945G>T (p.Val315=)
c.*1044G>T (n.*1044G>T)
c.963G>T (p.Val321=)
c.*19G>T (n.*19G>T)
 gnomAD v4
19g.11422853C=CA2322925051ODAD3c.1125G= (p.Val375=)
c.552G= (p.Val184=)
c.945G= (p.Val315=)
c.*1044G= (n.*1044G=)
c.963G= (p.Val321=)
c.*19G= (n.*19G=)
19g.11422853C>GCA505749559ODAD3c.1125G>C (p.Val375=)
c.552G>C (p.Val184=)
c.945G>C (p.Val315=)
c.*1044G>C (n.*1044G>C)
c.963G>C (p.Val321=)
c.*19G>C (n.*19G>C)
19g.11422853C>TCA505749558ODAD3c.1125G>A (p.Val375=)
c.552G>A (p.Val184=)
c.945G>A (p.Val315=)
c.*1044G>A (n.*1044G>A)
c.963G>A (p.Val321=)
c.*19G>A (n.*19G>A)
 dbSNP gnomAD v4
19g.11422854A>CCA404120583ODAD3c.1124T>G (p.Val375Gly)
c.551T>G (p.Val184Gly)
c.944T>G (p.Val315Gly)
c.*1043T>G (n.*1043T>G)
c.962T>G (p.Val321Gly)
c.*18T>G (n.*18T>G)
19g.11422854A>GCA404120584ODAD3c.1124T>C (p.Val375Ala)
c.551T>C (p.Val184Ala)
c.944T>C (p.Val315Ala)
c.*1043T>C (n.*1043T>C)
c.962T>C (p.Val321Ala)
c.*18T>C (n.*18T>C)
19g.11422854A>TCA404120586ODAD3c.1124T>A (p.Val375Glu)
c.551T>A (p.Val184Glu)
c.944T>A (p.Val315Glu)
c.*1043T>A (n.*1043T>A)
c.962T>A (p.Val321Glu)
c.*18T>A (n.*18T>A)
19g.11422855C>ACA404120590ODAD3c.1123G>T (p.Val375Leu)
c.550G>T (p.Val184Leu)
c.943G>T (p.Val315Leu)
c.*1042G>T (n.*1042G>T)
c.961G>T (p.Val321Leu)
c.*17G>T (n.*17G>T)
 gnomAD v4
19g.11422855C>GCA404120592ODAD3c.1123G>C (p.Val375Leu)
c.550G>C (p.Val184Leu)
c.943G>C (p.Val315Leu)
c.*1042G>C (n.*1042G>C)
c.961G>C (p.Val321Leu)
c.*17G>C (n.*17G>C)
19g.11422855C>TCA404120588ODAD3c.1123G>A (p.Val375Met)
c.550G>A (p.Val184Met)
c.943G>A (p.Val315Met)
c.*1042G>A (n.*1042G>A)
c.961G>A (p.Val321Met)
c.*17G>A (n.*17G>A)
 gnomAD v4
19g.11422855_11422858delinsCCAACA2322925052ODAD3c.1120_1123delinsTTGG (p.Leu374=)
c.547_550delinsTTGG (p.Leu183=)
c.940_943delinsTTGG (p.Leu314=)
c.*1039_*1042delinsTTGG (n.*1039_*1042delinsTTGG)
c.958_961delinsTTGG (p.Leu320=)
c.*14_*17delinsTTGG (n.*14_*17delinsTTGG)
19g.11422856C>ACA404120596ODAD3c.1122G>T (p.Leu374Phe)
c.549G>T (p.Leu183Phe)
c.942G>T (p.Leu314Phe)
c.*1041G>T (n.*1041G>T)
c.960G>T (p.Leu320Phe)
c.*16G>T (n.*16G>T)
19g.11422856C=CA2322925053ODAD3c.1122G= (p.Leu374=)
c.549G= (p.Leu183=)
c.942G= (p.Leu314=)
c.*1041G= (n.*1041G=)
c.960G= (p.Leu320=)
c.*16G= (n.*16G=)
19g.11422856C>GCA404120594ODAD3c.1122G>C (p.Leu374Phe)
c.549G>C (p.Leu183Phe)
c.942G>C (p.Leu314Phe)
c.*1041G>C (n.*1041G>C)
c.960G>C (p.Leu320Phe)
c.*16G>C (n.*16G>C)
19g.11422856C>TCA505749560ODAD3c.1122G>A (p.Leu374=)
c.549G>A (p.Leu183=)
c.942G>A (p.Leu314=)
c.*1041G>A (n.*1041G>A)
c.960G>A (p.Leu320=)
c.*16G>A (n.*16G>A)
 dbSNP gnomAD v2
19g.11422857_11422859delCA2322925054ODAD3c.1120_1122del (p.Leu374del)
c.547_549del (p.Leu183del)
c.940_942del (p.Leu314del)
c.*1039_*1041del (n.*1039_*1041del)
c.958_960del (p.Leu320del)
c.*14_*16del (n.*14_*16del)
 dbSNP
19g.11422857A>CCA404120598ODAD3c.1121T>G (p.Leu374Trp)
c.548T>G (p.Leu183Trp)
c.941T>G (p.Leu314Trp)
c.*1040T>G (n.*1040T>G)
c.959T>G (p.Leu320Trp)
c.*15T>G (n.*15T>G)
19g.11422857A>GCA404120599ODAD3c.1121T>C (p.Leu374Ser)
c.548T>C (p.Leu183Ser)
c.941T>C (p.Leu314Ser)
c.*1040T>C (n.*1040T>C)
c.959T>C (p.Leu320Ser)
c.*15T>C (n.*15T>C)
19g.11422857A>TCA404120602ODAD3c.1121T>A (p.Leu374Ter)
c.548T>A (p.Leu183Ter)
c.941T>A (p.Leu314Ter)
c.*1040T>A (n.*1040T>A)
c.959T>A (p.Leu320Ter)
c.*15T>A (n.*15T>A)
19g.11422858delCA2735476073ODAD3c.1121del (p.Leu374TrpfsTer27)
c.548del (p.Leu183TrpfsTer27)
c.941del (p.Leu314TrpfsTer27)
c.*1040del (n.*1040del)
c.959del (p.Leu320TrpfsTer27)
c.*15del (n.*15del)
 dbSNP
19g.11422858A>CCA404120604ODAD3c.1120T>G (p.Leu374Val)
c.547T>G (p.Leu183Val)
c.940T>G (p.Leu314Val)
c.*1039T>G (n.*1039T>G)
c.958T>G (p.Leu320Val)
c.*14T>G (n.*14T>G)
19g.11422858A>GCA505749561ODAD3c.1120T>C (p.Leu374=)
c.547T>C (p.Leu183=)
c.940T>C (p.Leu314=)
c.*1039T>C (n.*1039T>C)
c.958T>C (p.Leu320=)
c.*14T>C (n.*14T>C)
19g.11422858A>TCA404120606ODAD3c.1120T>A (p.Leu374Met)
c.547T>A (p.Leu183Met)
c.940T>A (p.Leu314Met)
c.*1039T>A (n.*1039T>A)
c.958T>A (p.Leu320Met)
c.*14T>A (n.*14T>A)
19g.11422859C>ACA505749563ODAD3c.1119G>T (p.Ser373=)
c.546G>T (p.Ser182=)
c.939G>T (p.Ser313=)
c.*1038G>T (n.*1038G>T)
c.957G>T (p.Ser319=)
c.*13G>T (n.*13G>T)
19g.11422859C=CA2322925055ODAD3c.1119G= (p.Ser373=)
c.546G= (p.Ser182=)
c.939G= (p.Ser313=)
c.*1038G= (n.*1038G=)
c.957G= (p.Ser319=)
c.*13G= (n.*13G=)
19g.11422859C>GCA505749565ODAD3c.1119G>C (p.Ser373=)
c.546G>C (p.Ser182=)
c.939G>C (p.Ser313=)
c.*1038G>C (n.*1038G>C)
c.957G>C (p.Ser319=)
c.*13G>C (n.*13G>C)
 gnomAD v4
19g.11422859C>TCA505749566ODAD3c.1119G>A (p.Ser373=)
c.546G>A (p.Ser182=)
c.939G>A (p.Ser313=)
c.*1038G>A (n.*1038G>A)
c.957G>A (p.Ser319=)
c.*13G>A (n.*13G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.11422860G>ACA404120608ODAD3c.1118C>T (p.Ser373Leu)
c.545C>T (p.Ser182Leu)
c.938C>T (p.Ser313Leu)
c.*1037C>T (n.*1037C>T)
c.956C>T (p.Ser319Leu)
c.*12C>T (n.*12C>T)
19g.11422860G>CCA404120610ODAD3c.1118C>G (p.Ser373Trp)
c.545C>G (p.Ser182Trp)
c.938C>G (p.Ser313Trp)
c.*1037C>G (n.*1037C>G)
c.956C>G (p.Ser319Trp)
c.*12C>G (n.*12C>G)
 dbSNP
19g.11422860G=CA2322925056ODAD3c.1118C= (p.Ser373=)
c.545C= (p.Ser182=)
c.938C= (p.Ser313=)
c.*1037C= (n.*1037C=)
c.956C= (p.Ser319=)
c.*12C= (n.*12C=)
19g.11422860G>TCA404120611ODAD3c.1118C>A (p.Ser373Ter)
c.545C>A (p.Ser182Ter)
c.938C>A (p.Ser313Ter)
c.*1037C>A (n.*1037C>A)
c.956C>A (p.Ser319Ter)
c.*12C>A (n.*12C>A)
 gnomAD v4
19g.11422861A>CCA404120613ODAD3c.1117T>G (p.Ser373Ala)
c.544T>G (p.Ser182Ala)
c.937T>G (p.Ser313Ala)
c.*1036T>G (n.*1036T>G)
c.955T>G (p.Ser319Ala)
c.*11T>G (n.*11T>G)
19g.11422861A>GCA404120614ODAD3c.1117T>C (p.Ser373Pro)
c.544T>C (p.Ser182Pro)
c.937T>C (p.Ser313Pro)
c.*1036T>C (n.*1036T>C)
c.955T>C (p.Ser319Pro)
c.*11T>C (n.*11T>C)
19g.11422861A>TCA404120616ODAD3c.1117T>A (p.Ser373Thr)
c.544T>A (p.Ser182Thr)
c.937T>A (p.Ser313Thr)
c.*1036T>A (n.*1036T>A)
c.955T>A (p.Ser319Thr)
c.*11T>A (n.*11T>A)
 gnomAD v4
19g.11422862C>ACA404120628ODAD3c.1117-1G>T (n.1117-1G>T)
c.544-1G>T (n.544-1G>T)
c.937-1G>T (n.937-1G>T)
c.*1036-1G>T (n.*1036-1G>T)
c.955-1G>T (n.955-1G>T)
c.*11-1G>T (n.*11-1G>T)
19g.11422862C=CA2322925057ODAD3c.1117-1G= (n.1117-1G=)
c.544-1G= (n.544-1G=)
c.937-1G= (n.937-1G=)
c.*1036-1G= (n.*1036-1G=)
c.955-1G= (n.955-1G=)
c.*11-1G= (n.*11-1G=)
19g.11422862C>GCA9212106ODAD3c.1117-1G>C (n.1117-1G>C)
c.544-1G>C (n.544-1G>C)
c.937-1G>C (n.937-1G>C)
c.*1036-1G>C (n.*1036-1G>C)
c.955-1G>C (n.955-1G>C)
c.*11-1G>C (n.*11-1G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422862C>TCA404120618ODAD3c.1117-1G>A (n.1117-1G>A)
c.544-1G>A (n.544-1G>A)
c.937-1G>A (n.937-1G>A)
c.*1036-1G>A (n.*1036-1G>A)
c.955-1G>A (n.955-1G>A)
c.*11-1G>A (n.*11-1G>A)
 gnomAD v4
19g.11422863T>ACA404120632ODAD3c.1117-2A>T (n.1117-2A>T)
c.544-2A>T (n.544-2A>T)
c.937-2A>T (n.937-2A>T)
c.*1036-2A>T (n.*1036-2A>T)
c.955-2A>T (n.955-2A>T)
c.*11-2A>T (n.*11-2A>T)
19g.11422863T>CCA404120633ODAD3c.1117-2A>G (n.1117-2A>G)
c.544-2A>G (n.544-2A>G)
c.937-2A>G (n.937-2A>G)
c.*1036-2A>G (n.*1036-2A>G)
c.955-2A>G (n.955-2A>G)
c.*11-2A>G (n.*11-2A>G)
19g.11422863T>GCA404120635ODAD3c.1117-2A>C (n.1117-2A>C)
c.544-2A>C (n.544-2A>C)
c.937-2A>C (n.937-2A>C)
c.*1036-2A>C (n.*1036-2A>C)
c.955-2A>C (n.955-2A>C)
c.*11-2A>C (n.*11-2A>C)
 dbSNP
19g.11422863T=CA2322925058ODAD3c.1117-2A= (n.1117-2A=)
c.544-2A= (n.544-2A=)
c.937-2A= (n.937-2A=)
c.*1036-2A= (n.*1036-2A=)
c.955-2A= (n.955-2A=)
c.*11-2A= (n.*11-2A=)
19g.11422864G>TCA2582529237ODAD3c.1117-3C>A (n.1117-3C>A)
c.544-3C>A (n.544-3C>A)
c.937-3C>A (n.937-3C>A)
c.*1036-3C>A (n.*1036-3C>A)
c.955-3C>A (n.955-3C>A)
c.*11-3C>A (n.*11-3C>A)
 gnomAD v4
19g.11422865C>ACA632116912ODAD3c.1117-4G>T (n.1117-4G>T)
c.544-4G>T (n.544-4G>T)
c.937-4G>T (n.937-4G>T)
c.*1036-4G>T (n.*1036-4G>T)
c.955-4G>T (n.955-4G>T)
c.*11-4G>T (n.*11-4G>T)
 dbSNP gnomAD v2
19g.11422865C=CA2322925059ODAD3c.1117-4G= (n.1117-4G=)
c.544-4G= (n.544-4G=)
c.937-4G= (n.937-4G=)
c.*1036-4G= (n.*1036-4G=)
c.955-4G= (n.955-4G=)
c.*11-4G= (n.*11-4G=)
19g.11422865C>TCA2582529238ODAD3c.1117-4G>A (n.1117-4G>A)
c.544-4G>A (n.544-4G>A)
c.937-4G>A (n.937-4G>A)
c.*1036-4G>A (n.*1036-4G>A)
c.955-4G>A (n.955-4G>A)
c.*11-4G>A (n.*11-4G>A)
 gnomAD v4
19g.11422866G>ACA9212107ODAD3c.1117-5C>T (n.1117-5C>T)
c.544-5C>T (n.544-5C>T)
c.937-5C>T (n.937-5C>T)
c.*1036-5C>T (n.*1036-5C>T)
c.955-5C>T (n.955-5C>T)
c.*11-5C>T (n.*11-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422866G>CCA632116913ODAD3c.1117-5C>G (n.1117-5C>G)
c.544-5C>G (n.544-5C>G)
c.937-5C>G (n.937-5C>G)
c.*1036-5C>G (n.*1036-5C>G)
c.955-5C>G (n.955-5C>G)
c.*11-5C>G (n.*11-5C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.11422866G=CA2322925060ODAD3c.1117-5C= (n.1117-5C=)
c.544-5C= (n.544-5C=)
c.937-5C= (n.937-5C=)
c.*1036-5C= (n.*1036-5C=)
c.955-5C= (n.955-5C=)
c.*11-5C= (n.*11-5C=)
19g.11422866G>TCA2582529239ODAD3c.1117-5C>A (n.1117-5C>A)
c.544-5C>A (n.544-5C>A)
c.937-5C>A (n.937-5C>A)
c.*1036-5C>A (n.*1036-5C>A)
c.955-5C>A (n.955-5C>A)
c.*11-5C>A (n.*11-5C>A)
 gnomAD v4
19g.11422867G>CCA2576629759ODAD3c.1117-6C>G (n.1117-6C>G)
c.544-6C>G (n.544-6C>G)
c.937-6C>G (n.937-6C>G)
c.*1036-6C>G (n.*1036-6C>G)
c.955-6C>G (n.955-6C>G)
c.*11-6C>G (n.*11-6C>G)
19g.11422867G>TCA2582529240ODAD3c.1117-6C>A (n.1117-6C>A)
c.544-6C>A (n.544-6C>A)
c.937-6C>A (n.937-6C>A)
c.*1036-6C>A (n.*1036-6C>A)
c.955-6C>A (n.955-6C>A)
c.*11-6C>A (n.*11-6C>A)
 gnomAD v4
19g.11422867_11422869delCA632116914ODAD3c.1117-8_1117-6del (n.1117-8_1117-6del)
c.544-8_544-6del (n.544-8_544-6del)
c.937-8_937-6del (n.937-8_937-6del)
c.*1036-8_*1036-6del (n.*1036-8_*1036-6del)
c.955-8_955-6del (n.955-8_955-6del)
c.*11-8_*11-6del (n.*11-8_*11-6del)
 gnomAD v2 gnomAD v4
19g.11422868G>ACA2582529241ODAD3c.1117-7C>T (n.1117-7C>T)
c.544-7C>T (n.544-7C>T)
c.937-7C>T (n.937-7C>T)
c.*1036-7C>T (n.*1036-7C>T)
c.955-7C>T (n.955-7C>T)
c.*11-7C>T (n.*11-7C>T)
 gnomAD v4
19g.11422868G>TCA2582529242ODAD3c.1117-7C>A (n.1117-7C>A)
c.544-7C>A (n.544-7C>A)
c.937-7C>A (n.937-7C>A)
c.*1036-7C>A (n.*1036-7C>A)
c.955-7C>A (n.955-7C>A)
c.*11-7C>A (n.*11-7C>A)
 gnomAD v4
19g.11422869C>ACA2582529243ODAD3c.1117-8G>T (n.1117-8G>T)
c.544-8G>T (n.544-8G>T)
c.937-8G>T (n.937-8G>T)
c.*1036-8G>T (n.*1036-8G>T)
c.955-8G>T (n.955-8G>T)
c.*11-8G>T (n.*11-8G>T)
 gnomAD v4
19g.11422869C>TCA2582529244ODAD3c.1117-8G>A (n.1117-8G>A)
c.544-8G>A (n.544-8G>A)
c.937-8G>A (n.937-8G>A)
c.*1036-8G>A (n.*1036-8G>A)
c.955-8G>A (n.955-8G>A)
c.*11-8G>A (n.*11-8G>A)
 gnomAD v4
19g.11422870C>ACA2322925062ODAD3c.1117-9G>T (n.1117-9G>T)
c.544-9G>T (n.544-9G>T)
c.937-9G>T (n.937-9G>T)
c.*1036-9G>T (n.*1036-9G>T)
c.955-9G>T (n.955-9G>T)
c.*11-9G>T (n.*11-9G>T)
 dbSNP gnomAD v4
19g.11422870C=CA2322925061ODAD3c.1117-9G= (n.1117-9G=)
c.544-9G= (n.544-9G=)
c.937-9G= (n.937-9G=)
c.*1036-9G= (n.*1036-9G=)
c.955-9G= (n.955-9G=)
c.*11-9G= (n.*11-9G=)
19g.11422870C>TCA2582529245ODAD3c.1117-9G>A (n.1117-9G>A)
c.544-9G>A (n.544-9G>A)
c.937-9G>A (n.937-9G>A)
c.*1036-9G>A (n.*1036-9G>A)
c.955-9G>A (n.955-9G>A)
c.*11-9G>A (n.*11-9G>A)
 gnomAD v4
19g.11422871A>CCA2576629760ODAD3c.1117-10T>G (n.1117-10T>G)
c.544-10T>G (n.544-10T>G)
c.937-10T>G (n.937-10T>G)
c.*1036-10T>G (n.*1036-10T>G)
c.955-10T>G (n.955-10T>G)
c.*11-10T>G (n.*11-10T>G)
19g.11422871A>GCA2530827407ODAD3c.1117-10T>C (n.1117-10T>C)
c.544-10T>C (n.544-10T>C)
c.937-10T>C (n.937-10T>C)
c.*1036-10T>C (n.*1036-10T>C)
c.955-10T>C (n.955-10T>C)
c.*11-10T>C (n.*11-10T>C)
19g.11422871_11422878delinsACCCAGCCCA2322925063ODAD3c.1117-17_1117-10delinsGGCTGGGT (n.1117-17_1117-10delinsGGCTGGGT)
c.544-17_544-10delinsGGCTGGGT (n.544-17_544-10delinsGGCTGGGT)
c.937-17_937-10delinsGGCTGGGT (n.937-17_937-10delinsGGCTGGGT)
c.*1036-17_*1036-10delinsGGCTGGGT (n.*1036-17_*1036-10delinsGGCTGGGT)
c.955-17_955-10delinsGGCTGGGT (n.955-17_955-10delinsGGCTGGGT)
c.*11-17_*11-10delinsGGCTGGGT (n.*11-17_*11-10delinsGGCTGGGT)
19g.11422872C=CA2322925064ODAD3c.1117-11G= (n.1117-11G=)
c.544-11G= (n.544-11G=)
c.937-11G= (n.937-11G=)
c.*1036-11G= (n.*1036-11G=)
c.955-11G= (n.955-11G=)
c.*11-11G= (n.*11-11G=)
19g.11422872C>TCA9212108ODAD3c.1117-11G>A (n.1117-11G>A)
c.544-11G>A (n.544-11G>A)
c.937-11G>A (n.937-11G>A)
c.*1036-11G>A (n.*1036-11G>A)
c.955-11G>A (n.955-11G>A)
c.*11-11G>A (n.*11-11G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11422874_11422880delCA632116916ODAD3c.1117-17_1117-11del (n.1117-17_1117-11del)
c.544-17_544-11del (n.544-17_544-11del)
c.937-17_937-11del (n.937-17_937-11del)
c.*1036-17_*1036-11del (n.*1036-17_*1036-11del)
c.955-17_955-11del (n.955-17_955-11del)
c.*11-17_*11-11del (n.*11-17_*11-11del)
 dbSNP gnomAD v2 gnomAD v4
19g.11422873C=CA2322925065ODAD3c.1117-12G= (n.1117-12G=)
c.544-12G= (n.544-12G=)
c.937-12G= (n.937-12G=)
c.*1036-12G= (n.*1036-12G=)
c.955-12G= (n.955-12G=)
c.*11-12G= (n.*11-12G=)
19g.11422873C>GCA2582529246ODAD3c.1117-12G>C (n.1117-12G>C)
c.544-12G>C (n.544-12G>C)
c.937-12G>C (n.937-12G>C)
c.*1036-12G>C (n.*1036-12G>C)
c.955-12G>C (n.955-12G>C)
c.*11-12G>C (n.*11-12G>C)
 gnomAD v4
19g.11422873C>TCA632116918ODAD3c.1117-12G>A (n.1117-12G>A)
c.544-12G>A (n.544-12G>A)
c.937-12G>A (n.937-12G>A)
c.*1036-12G>A (n.*1036-12G>A)
c.955-12G>A (n.955-12G>A)
c.*11-12G>A (n.*11-12G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.11422874C>ACA2576629761ODAD3c.1117-13G>T (n.1117-13G>T)
c.544-13G>T (n.544-13G>T)
c.937-13G>T (n.937-13G>T)
c.*1036-13G>T (n.*1036-13G>T)
c.955-13G>T (n.955-13G>T)
c.*11-13G>T (n.*11-13G>T)
19g.11422874C=CA2322925066ODAD3c.1117-13G= (n.1117-13G=)
c.544-13G= (n.544-13G=)
c.937-13G= (n.937-13G=)
c.*1036-13G= (n.*1036-13G=)
c.955-13G= (n.955-13G=)
c.*11-13G= (n.*11-13G=)
19g.11422874C>TCA305327329ODAD3c.1117-13G>A (n.1117-13G>A)
c.544-13G>A (n.544-13G>A)
c.937-13G>A (n.937-13G>A)
c.*1036-13G>A (n.*1036-13G>A)
c.955-13G>A (n.955-13G>A)
c.*11-13G>A (n.*11-13G>A)
 dbSNP
19g.11422875A=CA2322925067ODAD3c.1117-14T= (n.1117-14T=)
c.544-14T= (n.544-14T=)
c.937-14T= (n.937-14T=)
c.*1036-14T= (n.*1036-14T=)
c.955-14T= (n.955-14T=)
c.*11-14T= (n.*11-14T=)
19g.11422875A>GCA305327342ODAD3c.1117-14T>C (n.1117-14T>C)
c.544-14T>C (n.544-14T>C)
c.937-14T>C (n.937-14T>C)
c.*1036-14T>C (n.*1036-14T>C)
c.955-14T>C (n.955-14T>C)
c.*11-14T>C (n.*11-14T>C)
 dbSNP gnomAD v4
19g.11422876G>TCA2582529247ODAD3c.1117-15C>A (n.1117-15C>A)
c.544-15C>A (n.544-15C>A)
c.937-15C>A (n.937-15C>A)
c.*1036-15C>A (n.*1036-15C>A)
c.955-15C>A (n.955-15C>A)
c.*11-15C>A (n.*11-15C>A)
 gnomAD v4

Number of alleles fetched