Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.56004399C>ACA385290361SUOXc.1010C>A (p.Ala337Asp)
c.*198C>A (n.*198C>A)
c.1031C>A (p.Ala344Asp)
12g.56004399C>GCA385290363SUOXc.1010C>G (p.Ala337Gly)
c.*198C>G (n.*198C>G)
c.1031C>G (p.Ala344Gly)
12g.56004399C>TCA385290365SUOXc.1010C>T (p.Ala337Val)
c.*198C>T (n.*198C>T)
c.1031C>T (p.Ala344Val)
 gnomAD v4
12g.56004400T>ACA480366262SUOXc.1011T>A (p.Ala337=)
c.*199T>A (n.*199T>A)
c.1032T>A (p.Ala344=)
12g.56004400T>CCA480366264SUOXc.1011T>C (p.Ala337=)
c.*199T>C (n.*199T>C)
c.1032T>C (p.Ala344=)
12g.56004400T>GCA480366263SUOXc.1011T>G (p.Ala337=)
c.*199T>G (n.*199T>G)
c.1032T>G (p.Ala344=)
12g.56004401C>ACA480366265SUOXc.1012C>A (p.Arg338=)
c.*200C>A (n.*200C>A)
c.1033C>A (p.Arg345=)
12g.56004401C=CA2038197853SUOXc.1012C= (p.Arg338=)
c.*200C= (n.*200C=)
c.1033C= (p.Arg345=)
12g.56004401C>GCA385290369SUOXc.1012C>G (p.Arg338Gly)
c.*200C>G (n.*200C>G)
c.1033C>G (p.Arg345Gly)
12g.56004401C>TCA6621079SUOXc.1012C>T (p.Arg338Trp)
c.*200C>T (n.*200C>T)
c.1033C>T (p.Arg345Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004402G>ACA6621080SUOXc.1013G>A (p.Arg338Gln)
c.*201G>A (n.*201G>A)
c.1034G>A (p.Arg345Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004402G>CCA385290375SUOXc.1013G>C (p.Arg338Pro)
c.*201G>C (n.*201G>C)
c.1034G>C (p.Arg345Pro)
 dbSNP gnomAD v2 gnomAD v4
12g.56004402G=CA2038197854SUOXc.1013G= (p.Arg338=)
c.*201G= (n.*201G=)
c.1034G= (p.Arg345=)
12g.56004402G>TCA385290378SUOXc.1013G>T (p.Arg338Leu)
c.*201G>T (n.*201G>T)
c.1034G>T (p.Arg345Leu)
12g.56004403G>ACA480366266SUOXc.1014G>A (p.Arg338=)
c.*202G>A (n.*202G>A)
c.1035G>A (p.Arg345=)
 ClinVar gnomAD v4
12g.56004403G>CCA480366267SUOXc.1014G>C (p.Arg338=)
c.*202G>C (n.*202G>C)
c.1035G>C (p.Arg345=)
 COSMIC
12g.56004403G>TCA480366268SUOXc.1014G>T (p.Arg338=)
c.*202G>T (n.*202G>T)
c.1035G>T (p.Arg345=)
12g.56004404G>ACA385290385SUOXc.1015G>A (p.Ala339Thr)
c.*203G>A (n.*203G>A)
c.1036G>A (p.Ala346Thr)
 gnomAD v4
12g.56004404G>CCA385290387SUOXc.1015G>C (p.Ala339Pro)
c.*203G>C (n.*203G>C)
c.1036G>C (p.Ala346Pro)
12g.56004404G>TCA385290382SUOXc.1015G>T (p.Ala339Ser)
c.*203G>T (n.*203G>T)
c.1036G>T (p.Ala346Ser)
12g.56004405C>ACA385290392SUOXc.1016C>A (p.Ala339Asp)
c.*204C>A (n.*204C>A)
c.1037C>A (p.Ala346Asp)
12g.56004405C=CA2038197855SUOXc.1016C= (p.Ala339=)
c.*204C= (n.*204C=)
c.1037C= (p.Ala346=)
12g.56004405C>GCA385290394SUOXc.1016C>G (p.Ala339Gly)
c.*204C>G (n.*204C>G)
c.1037C>G (p.Ala346Gly)
12g.56004405C>TCA6621081SUOXc.1016C>T (p.Ala339Val)
c.*204C>T (n.*204C>T)
c.1037C>T (p.Ala346Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004406C>ACA480366272SUOXc.1017C>A (p.Ala339=)
c.*205C>A (n.*205C>A)
c.1038C>A (p.Ala346=)
12g.56004406C>GCA480366273SUOXc.1017C>G (p.Ala339=)
c.*205C>G (n.*205C>G)
c.1038C>G (p.Ala346=)
12g.56004406C>TCA480366274SUOXc.1017C>T (p.Ala339=)
c.*205C>T (n.*205C>T)
c.1038C>T (p.Ala346=)
 ClinVar
12g.56004407A=CA2038197856SUOXc.1018A= (p.Met340=)
c.*206A= (n.*206A=)
c.1039A= (p.Met347=)
12g.56004407A>CCA385290401SUOXc.1018A>C (p.Met340Leu)
c.*206A>C (n.*206A>C)
c.1039A>C (p.Met347Leu)
12g.56004407A>GCA6621082SUOXc.1018A>G (p.Met340Val)
c.*206A>G (n.*206A>G)
c.1039A>G (p.Met347Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004407A>TCA385290405SUOXc.1018A>T (p.Met340Leu)
c.*206A>T (n.*206A>T)
c.1039A>T (p.Met347Leu)
 ClinVar dbSNP
12g.56004408T>ACA385290408SUOXc.1019T>A (p.Met340Lys)
c.*207T>A (n.*207T>A)
c.1040T>A (p.Met347Lys)
12g.56004408T>CCA385290410SUOXc.1019T>C (p.Met340Thr)
c.*207T>C (n.*207T>C)
c.1040T>C (p.Met347Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.56004408T>GCA385290412SUOXc.1019T>G (p.Met340Arg)
c.*207T>G (n.*207T>G)
c.1040T>G (p.Met347Arg)
12g.56004408T=CA2038197857SUOXc.1019T= (p.Met340=)
c.*207T= (n.*207T=)
c.1040T= (p.Met347=)
12g.56004409G>ACA385290414SUOXc.1020G>A (p.Met340Ile)
c.*208G>A (n.*208G>A)
c.1041G>A (p.Met347Ile)
12g.56004409G>CCA385290417SUOXc.1020G>C (p.Met340Ile)
c.*208G>C (n.*208G>C)
c.1041G>C (p.Met347Ile)
12g.56004409G>TCA385290419SUOXc.1020G>T (p.Met340Ile)
c.*208G>T (n.*208G>T)
c.1041G>T (p.Met347Ile)
12g.56004410G>ACA6621083SUOXc.1021G>A (p.Asp341Asn)
c.*209G>A (n.*209G>A)
c.1042G>A (p.Asp348Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004410G>CCA385290428SUOXc.1021G>C (p.Asp341His)
c.*209G>C (n.*209G>C)
c.1042G>C (p.Asp348His)
12g.56004410G=CA2038197858SUOXc.1021G= (p.Asp341=)
c.*209G= (n.*209G=)
c.1042G= (p.Asp348=)
12g.56004410G>TCA385290424SUOXc.1021G>T (p.Asp341Tyr)
c.*209G>T (n.*209G>T)
c.1042G>T (p.Asp348Tyr)
12g.56004411A>CCA385290432SUOXc.1022A>C (p.Asp341Ala)
c.*210A>C (n.*210A>C)
c.1043A>C (p.Asp348Ala)
12g.56004411A>GCA385290435SUOXc.1022A>G (p.Asp341Gly)
c.*210A>G (n.*210A>G)
c.1043A>G (p.Asp348Gly)
12g.56004411A>TCA385290437SUOXc.1022A>T (p.Asp341Val)
c.*210A>T (n.*210A>T)
c.1043A>T (p.Asp348Val)
12g.56004412C>ACA385290440SUOXc.1023C>A (p.Asp341Glu)
c.*211C>A (n.*211C>A)
c.1044C>A (p.Asp348Glu)
12g.56004412C>GCA385290442SUOXc.1023C>G (p.Asp341Glu)
c.*211C>G (n.*211C>G)
c.1044C>G (p.Asp348Glu)
12g.56004412C>TCA480366278SUOXc.1023C>T (p.Asp341=)
c.*211C>T (n.*211C>T)
c.1044C>T (p.Asp348=)
12g.56004413C>ACA385290452SUOXc.1024C>A (p.Pro342Thr)
c.*212C>A (n.*212C>A)
c.1045C>A (p.Pro349Thr)
 gnomAD v4
12g.56004413C>GCA385290447SUOXc.1024C>G (p.Pro342Ala)
c.*212C>G (n.*212C>G)
c.1045C>G (p.Pro349Ala)
 gnomAD v4
12g.56004413C>TCA385290450SUOXc.1024C>T (p.Pro342Ser)
c.*212C>T (n.*212C>T)
c.1045C>T (p.Pro349Ser)
12g.56004414C>ACA385290457SUOXc.1025C>A (p.Pro342His)
c.*213C>A (n.*213C>A)
c.1046C>A (p.Pro349His)
12g.56004414C=CA2038197859SUOXc.1025C= (p.Pro342=)
c.*213C= (n.*213C=)
c.1046C= (p.Pro349=)
12g.56004414C>GCA385290459SUOXc.1025C>G (p.Pro342Arg)
c.*213C>G (n.*213C>G)
c.1046C>G (p.Pro349Arg)
12g.56004414C>TCA385290462SUOXc.1025C>T (p.Pro342Leu)
c.*213C>T (n.*213C>T)
c.1046C>T (p.Pro349Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.56004415T>ACA480366282SUOXc.1026T>A (p.Pro342=)
c.*214T>A (n.*214T>A)
c.1047T>A (p.Pro349=)
12g.56004415T>CCA480366283SUOXc.1026T>C (p.Pro342=)
c.*214T>C (n.*214T>C)
c.1047T>C (p.Pro349=)
 gnomAD v4
12g.56004415T>GCA480366284SUOXc.1026T>G (p.Pro342=)
c.*214T>G (n.*214T>G)
c.1047T>G (p.Pro349=)
12g.56004416G>ACA385290466SUOXc.1027G>A (p.Glu343Lys)
c.*215G>A (n.*215G>A)
c.1048G>A (p.Glu350Lys)
12g.56004416G>CCA385290468SUOXc.1027G>C (p.Glu343Gln)
c.*215G>C (n.*215G>C)
c.1048G>C (p.Glu350Gln)
12g.56004416G>TCA385290471SUOXc.1027G>T (p.Glu343Ter)
c.*215G>T (n.*215G>T)
c.1048G>T (p.Glu350Ter)
12g.56004417A>CCA385290478SUOXc.1028A>C (p.Glu343Ala)
c.*216A>C (n.*216A>C)
c.1049A>C (p.Glu350Ala)
12g.56004417A>GCA385290481SUOXc.1028A>G (p.Glu343Gly)
c.*216A>G (n.*216A>G)
c.1049A>G (p.Glu350Gly)
12g.56004417A>TCA385290475SUOXc.1028A>T (p.Glu343Val)
c.*216A>T (n.*216A>T)
c.1049A>T (p.Glu350Val)
12g.56004418A>CCA385290484SUOXc.1029A>C (p.Glu343Asp)
c.*217A>C (n.*217A>C)
c.1050A>C (p.Glu350Asp)
12g.56004418A>GCA480366286SUOXc.1029A>G (p.Glu343=)
c.*217A>G (n.*217A>G)
c.1050A>G (p.Glu350=)
12g.56004418A>TCA385290487SUOXc.1029A>T (p.Glu343Asp)
c.*217A>T (n.*217A>T)
c.1050A>T (p.Glu350Asp)
12g.56004419G>ACA385290492SUOXc.1030G>A (p.Ala344Thr)
c.*218G>A (n.*218G>A)
c.1051G>A (p.Ala351Thr)
 dbSNP
12g.56004419G>CCA385290495SUOXc.1030G>C (p.Ala344Pro)
c.*218G>C (n.*218G>C)
c.1051G>C (p.Ala351Pro)
12g.56004419G=CA2038197860SUOXc.1030G= (p.Ala344=)
c.*218G= (n.*218G=)
c.1051G= (p.Ala351=)
12g.56004419G>TCA385290498SUOXc.1030G>T (p.Ala344Ser)
c.*218G>T (n.*218G>T)
c.1051G>T (p.Ala351Ser)
12g.56004420C>ACA385290500SUOXc.1031C>A (p.Ala344Asp)
c.*219C>A (n.*219C>A)
c.1052C>A (p.Ala351Asp)
12g.56004420C=CA2038197861SUOXc.1031C= (p.Ala344=)
c.*219C= (n.*219C=)
c.1052C= (p.Ala351=)
12g.56004420C>GCA385290501SUOXc.1031C>G (p.Ala344Gly)
c.*219C>G (n.*219C>G)
c.1052C>G (p.Ala351Gly)
12g.56004420C>TCA385290504SUOXc.1031C>T (p.Ala344Val)
c.*219C>T (n.*219C>T)
c.1052C>T (p.Ala351Val)
 dbSNP gnomAD v2 gnomAD v4
12g.56004421T>ACA480366287SUOXc.1032T>A (p.Ala344=)
c.*220T>A (n.*220T>A)
c.1053T>A (p.Ala351=)
12g.56004421T>CCA480366288SUOXc.1032T>C (p.Ala344=)
c.*220T>C (n.*220T>C)
c.1053T>C (p.Ala351=)
 ClinVar
12g.56004421T>GCA480366289SUOXc.1032T>G (p.Ala344=)
c.*220T>G (n.*220T>G)
c.1053T>G (p.Ala351=)
 ClinVar dbSNP
12g.56004422G>ACA385290506SUOXc.1033G>A (p.Glu345Lys)
c.*221G>A (n.*221G>A)
c.1054G>A (p.Glu352Lys)
12g.56004422G>CCA237605249SUOXc.1033G>C (p.Glu345Gln)
c.*221G>C (n.*221G>C)
c.1054G>C (p.Glu352Gln)
 dbSNP gnomAD v3 gnomAD v4
12g.56004422G=CA2038197862SUOXc.1033G= (p.Glu345=)
c.*221G= (n.*221G=)
c.1054G= (p.Glu352=)
12g.56004422G>TCA385290509SUOXc.1033G>T (p.Glu345Ter)
c.*221G>T (n.*221G>T)
c.1054G>T (p.Glu352Ter)
12g.56004423A>CCA385290511SUOXc.1034A>C (p.Glu345Ala)
c.*222A>C (n.*222A>C)
c.1055A>C (p.Glu352Ala)
12g.56004423A>GCA385290512SUOXc.1034A>G (p.Glu345Gly)
c.*222A>G (n.*222A>G)
c.1055A>G (p.Glu352Gly)
12g.56004423A>TCA385290514SUOXc.1034A>T (p.Glu345Val)
c.*222A>T (n.*222A>T)
c.1055A>T (p.Glu352Val)
12g.56004424G>ACA6621084SUOXc.1035G>A (p.Glu345=)
c.*223G>A (n.*223G>A)
c.1056G>A (p.Glu352=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004424G>CCA385290521SUOXc.1035G>C (p.Glu345Asp)
c.*223G>C (n.*223G>C)
c.1056G>C (p.Glu352Asp)
12g.56004424G=CA2038197863SUOXc.1035G= (p.Glu345=)
c.*223G= (n.*223G=)
c.1056G= (p.Glu352=)
12g.56004424G>TCA385290516SUOXc.1035G>T (p.Glu345Asp)
c.*223G>T (n.*223G>T)
c.1056G>T (p.Glu352Asp)
12g.56004425G>ACA385290523SUOXc.1036G>A (p.Val346Ile)
c.*224G>A (n.*224G>A)
c.1057G>A (p.Val353Ile)
12g.56004425G>CCA385290524SUOXc.1036G>C (p.Val346Leu)
c.*224G>C (n.*224G>C)
c.1057G>C (p.Val353Leu)
12g.56004425G>TCA385290529SUOXc.1036G>T (p.Val346Phe)
c.*224G>T (n.*224G>T)
c.1057G>T (p.Val353Phe)
12g.56004426T>ACA385290532SUOXc.1037T>A (p.Val346Asp)
c.*225T>A (n.*225T>A)
c.1058T>A (p.Val353Asp)
12g.56004426T>CCA385290535SUOXc.1037T>C (p.Val346Ala)
c.*225T>C (n.*225T>C)
c.1058T>C (p.Val353Ala)
12g.56004426T>GCA385290536SUOXc.1037T>G (p.Val346Gly)
c.*225T>G (n.*225T>G)
c.1058T>G (p.Val353Gly)
12g.56004427C>ACA480366290SUOXc.1038C>A (p.Val346=)
c.*226C>A (n.*226C>A)
c.1059C>A (p.Val353=)
12g.56004427C>GCA480366291SUOXc.1038C>G (p.Val346=)
c.*226C>G (n.*226C>G)
c.1059C>G (p.Val353=)
12g.56004427C>TCA480366292SUOXc.1038C>T (p.Val346=)
c.*226C>T (n.*226C>T)
c.1059C>T (p.Val353=)
 ClinVar dbSNP
12g.56004428C>ACA385290539SUOXc.1039C>A (p.Leu347Met)
c.*227C>A (n.*227C>A)
c.1060C>A (p.Leu354Met)
12g.56004428C>GCA385290541SUOXc.1039C>G (p.Leu347Val)
c.*227C>G (n.*227C>G)
c.1060C>G (p.Leu354Val)
12g.56004428C>TCA480366293SUOXc.1039C>T (p.Leu347=)
c.*227C>T (n.*227C>T)
c.1060C>T (p.Leu354=)
12g.56004429T>ACA385290543SUOXc.1040T>A (p.Leu347Gln)
c.*228T>A (n.*228T>A)
c.1061T>A (p.Leu354Gln)
12g.56004429T>CCA385290545SUOXc.1040T>C (p.Leu347Pro)
c.*228T>C (n.*228T>C)
c.1061T>C (p.Leu354Pro)
 ClinVar dbSNP
12g.56004429T>GCA385290548SUOXc.1040T>G (p.Leu347Arg)
c.*228T>G (n.*228T>G)
c.1061T>G (p.Leu354Arg)
12g.56004429T=CA2038197864SUOXc.1040T= (p.Leu347=)
c.*228T= (n.*228T=)
c.1061T= (p.Leu354=)
12g.56004430G>ACA480366296SUOXc.1041G>A (p.Leu347=)
c.*229G>A (n.*229G>A)
c.1062G>A (p.Leu354=)
12g.56004430G>CCA480366299SUOXc.1041G>C (p.Leu347=)
c.*229G>C (n.*229G>C)
c.1062G>C (p.Leu354=)
12g.56004430G>TCA480366298SUOXc.1041G>T (p.Leu347=)
c.*229G>T (n.*229G>T)
c.1062G>T (p.Leu354=)
12g.56004431C>ACA385290550SUOXc.1042C>A (p.Leu348Met)
c.*230C>A (n.*230C>A)
c.1063C>A (p.Leu355Met)
12g.56004431C>GCA385290553SUOXc.1042C>G (p.Leu348Val)
c.*230C>G (n.*230C>G)
c.1063C>G (p.Leu355Val)
12g.56004431C>TCA480366300SUOXc.1042C>T (p.Leu348=)
c.*230C>T (n.*230C>T)
c.1063C>T (p.Leu355=)
12g.56004432T>ACA385290563SUOXc.1043T>A (p.Leu348Gln)
c.*231T>A (n.*231T>A)
c.1064T>A (p.Leu355Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004432T>CCA385290566SUOXc.1043T>C (p.Leu348Pro)
c.*231T>C (n.*231T>C)
c.1064T>C (p.Leu355Pro)
 gnomAD v4
12g.56004432T>GCA385290557SUOXc.1043T>G (p.Leu348Arg)
c.*231T>G (n.*231T>G)
c.1064T>G (p.Leu355Arg)
12g.56004432T=CA2038197865SUOXc.1043T= (p.Leu348=)
c.*231T= (n.*231T=)
c.1064T= (p.Leu355=)
12g.56004433G>ACA480366304SUOXc.1044G>A (p.Leu348=)
c.*232G>A (n.*232G>A)
c.1065G>A (p.Leu355=)
 ClinVar dbSNP
12g.56004433G>CCA480366305SUOXc.1044G>C (p.Leu348=)
c.*232G>C (n.*232G>C)
c.1065G>C (p.Leu355=)
12g.56004433G>TCA480366306SUOXc.1044G>T (p.Leu348=)
c.*232G>T (n.*232G>T)
c.1065G>T (p.Leu355=)
 gnomAD v4
12g.56004434G>ACA385290570SUOXc.1045G>A (p.Ala349Thr)
c.*233G>A (n.*233G>A)
c.1066G>A (p.Ala356Thr)
 gnomAD v4
12g.56004434G>CCA385290571SUOXc.1045G>C (p.Ala349Pro)
c.*233G>C (n.*233G>C)
c.1066G>C (p.Ala356Pro)
12g.56004434G>TCA385290574SUOXc.1045G>T (p.Ala349Ser)
c.*233G>T (n.*233G>T)
c.1066G>T (p.Ala356Ser)
12g.56004435C>ACA385290579SUOXc.1046C>A (p.Ala349Glu)
c.*234C>A (n.*234C>A)
c.1067C>A (p.Ala356Glu)
12g.56004435C>GCA385290582SUOXc.1046C>G (p.Ala349Gly)
c.*234C>G (n.*234C>G)
c.1067C>G (p.Ala356Gly)
12g.56004435C>TCA385290584SUOXc.1046C>T (p.Ala349Val)
c.*234C>T (n.*234C>T)
c.1067C>T (p.Ala356Val)
12g.56004435_56004437delinsCATCA2038197866SUOXc.1046_1048delinsCAT (p.Ala349=)
c.*234_*236delinsCAT (n.*234_*236delinsCAT)
c.1067_1069delinsCAT (p.Ala356=)
12g.56004436A=CA2038197867SUOXc.1047A= (p.Ala349=)
c.*235A= (n.*235A=)
c.1068A= (p.Ala356=)
12g.56004436A>CCA480366310SUOXc.1047A>C (p.Ala349=)
c.*235A>C (n.*235A>C)
c.1068A>C (p.Ala356=)
12g.56004436A>GCA480366311SUOXc.1047A>G (p.Ala349=)
c.*235A>G (n.*235A>G)
c.1068A>G (p.Ala356=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.56004436A>TCA480366312SUOXc.1047A>T (p.Ala349=)
c.*235A>T (n.*235A>T)
c.1068A>T (p.Ala356=)
12g.56004438_56004439delCA605401135SUOXc.1049_1050del (p.Tyr350Ter)
c.*237_*238del (n.*237_*238del)
c.1070_1071del (p.Tyr357Ter)
 dbSNP gnomAD v2 gnomAD v4
12g.56004437T>ACA385290590SUOXc.1048T>A (p.Tyr350Asn)
c.*236T>A (n.*236T>A)
c.1069T>A (p.Tyr357Asn)
12g.56004437T>CCA6621085SUOXc.1048T>C (p.Tyr350His)
c.*236T>C (n.*236T>C)
c.1069T>C (p.Tyr357His)
 dbSNP ExAC gnomAD v4
12g.56004437T>GCA385290592SUOXc.1048T>G (p.Tyr350Asp)
c.*236T>G (n.*236T>G)
c.1069T>G (p.Tyr357Asp)
12g.56004437T=CA2038197868SUOXc.1048T= (p.Tyr350=)
c.*236T= (n.*236T=)
c.1069T= (p.Tyr357=)
12g.56004438A=CA2038197869SUOXc.1049A= (p.Tyr350=)
c.*237A= (n.*237A=)
c.1070A= (p.Tyr357=)
12g.56004438A>CCA385290597SUOXc.1049A>C (p.Tyr350Ser)
c.*237A>C (n.*237A>C)
c.1070A>C (p.Tyr357Ser)
12g.56004438A>GCA385290600SUOXc.1049A>G (p.Tyr350Cys)
c.*237A>G (n.*237A>G)
c.1070A>G (p.Tyr357Cys)
 gnomAD v4
12g.56004438A>TCA6621086SUOXc.1049A>T (p.Tyr350Phe)
c.*237A>T (n.*237A>T)
c.1070A>T (p.Tyr357Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004438_56004441delCA2575186108SUOXc.1049_1052del (p.Tyr350Ter)
c.*237_*240del (n.*237_*240del)
c.1070_1073del (p.Tyr357Ter)
 ClinVar gnomAD v4
12g.56004439T>ACA385290616SUOXc.1050T>A (p.Tyr350Ter)
c.*238T>A (n.*238T>A)
c.1071T>A (p.Tyr357Ter)
12g.56004439T>CCA6621087SUOXc.1050T>C (p.Tyr350=)
c.*238T>C (n.*238T>C)
c.1071T>C (p.Tyr357=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004439T>GCA385290612SUOXc.1050T>G (p.Tyr350Ter)
c.*238T>G (n.*238T>G)
c.1071T>G (p.Tyr357Ter)
 gnomAD v4
12g.56004439T=CA2038197870SUOXc.1050T= (p.Tyr350=)
c.*238T= (n.*238T=)
c.1071T= (p.Tyr357=)
12g.56004440G>ACA385290621SUOXc.1051G>A (p.Glu351Lys)
c.*239G>A (n.*239G>A)
c.1072G>A (p.Glu358Lys)
 gnomAD v4
12g.56004440G>CCA385290625SUOXc.1051G>C (p.Glu351Gln)
c.*239G>C (n.*239G>C)
c.1072G>C (p.Glu358Gln)
12g.56004440G>TCA385290629SUOXc.1051G>T (p.Glu351Ter)
c.*239G>T (n.*239G>T)
c.1072G>T (p.Glu358Ter)
12g.56004441A>CCA385290636SUOXc.1052A>C (p.Glu351Ala)
c.*240A>C (n.*240A>C)
c.1073A>C (p.Glu358Ala)
12g.56004441A>GCA385290638SUOXc.1052A>G (p.Glu351Gly)
c.*240A>G (n.*240A>G)
c.1073A>G (p.Glu358Gly)
12g.56004441A>TCA385290641SUOXc.1052A>T (p.Glu351Val)
c.*240A>T (n.*240A>T)
c.1073A>T (p.Glu358Val)
12g.56004442G>ACA480366320SUOXc.1053G>A (p.Glu351=)
c.*241G>A (n.*241G>A)
c.1074G>A (p.Glu358=)
 gnomAD v4
12g.56004442G>CCA385290645SUOXc.1053G>C (p.Glu351Asp)
c.*241G>C (n.*241G>C)
c.1074G>C (p.Glu358Asp)
12g.56004442G=CA2038197871SUOXc.1053G= (p.Glu351=)
c.*241G= (n.*241G=)
c.1074G= (p.Glu358=)
12g.56004442G>TCA385290649SUOXc.1053G>T (p.Glu351Asp)
c.*241G>T (n.*241G>T)
c.1074G>T (p.Glu358Asp)
 dbSNP gnomAD v3 gnomAD v4
12g.56004443A>CCA385290654SUOXc.1054A>C (p.Met352Leu)
c.*242A>C (n.*242A>C)
c.1075A>C (p.Met359Leu)
12g.56004443A>GCA385290658SUOXc.1054A>G (p.Met352Val)
c.*242A>G (n.*242A>G)
c.1075A>G (p.Met359Val)
12g.56004443A>TCA385290660SUOXc.1054A>T (p.Met352Leu)
c.*242A>T (n.*242A>T)
c.1075A>T (p.Met359Leu)
12g.56004444T>ACA385290670SUOXc.1055T>A (p.Met352Lys)
c.*243T>A (n.*243T>A)
c.1076T>A (p.Met359Lys)
12g.56004444T>CCA385290674SUOXc.1055T>C (p.Met352Thr)
c.*243T>C (n.*243T>C)
c.1076T>C (p.Met359Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.56004444T>GCA385290666SUOXc.1055T>G (p.Met352Arg)
c.*243T>G (n.*243T>G)
c.1076T>G (p.Met359Arg)
12g.56004444T=CA2038197872SUOXc.1055T= (p.Met352=)
c.*243T= (n.*243T=)
c.1076T= (p.Met359=)
12g.56004445G>ACA6621089SUOXc.1056G>A (p.Met352Ile)
c.*244G>A (n.*244G>A)
c.1077G>A (p.Met359Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004445G>CCA6621088SUOXc.1056G>C (p.Met352Ile)
c.*244G>C (n.*244G>C)
c.1077G>C (p.Met359Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004445G=CA2038197873SUOXc.1056G= (p.Met352=)
c.*244G= (n.*244G=)
c.1077G= (p.Met359=)
12g.56004445G>TCA385290685SUOXc.1056G>T (p.Met352Ile)
c.*244G>T (n.*244G>T)
c.1077G>T (p.Met359Ile)
12g.56004446A>CCA385290692SUOXc.1057A>C (p.Asn353His)
c.*245A>C (n.*245A>C)
c.1078A>C (p.Asn360His)
12g.56004446A>GCA385290696SUOXc.1057A>G (p.Asn353Asp)
c.*245A>G (n.*245A>G)
c.1078A>G (p.Asn360Asp)
12g.56004446A>TCA385290699SUOXc.1057A>T (p.Asn353Tyr)
c.*245A>T (n.*245A>T)
c.1078A>T (p.Asn360Tyr)
12g.56004447A=CA2038197874SUOXc.1058A= (p.Asn353=)
c.*246A= (n.*246A=)
c.1079A= (p.Asn360=)
12g.56004447A>CCA385290704SUOXc.1058A>C (p.Asn353Thr)
c.*246A>C (n.*246A>C)
c.1079A>C (p.Asn360Thr)
12g.56004447A>GCA6621090SUOXc.1058A>G (p.Asn353Ser)
c.*246A>G (n.*246A>G)
c.1079A>G (p.Asn360Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004447A>TCA385290709SUOXc.1058A>T (p.Asn353Ile)
c.*246A>T (n.*246A>T)
c.1079A>T (p.Asn360Ile)
12g.56004448T>ACA385290714SUOXc.1059T>A (p.Asn353Lys)
c.*247T>A (n.*247T>A)
c.1080T>A (p.Asn360Lys)
12g.56004448T>CCA480366330SUOXc.1059T>C (p.Asn353=)
c.*247T>C (n.*247T>C)
c.1080T>C (p.Asn360=)
12g.56004448T>GCA385290716SUOXc.1059T>G (p.Asn353Lys)
c.*247T>G (n.*247T>G)
c.1080T>G (p.Asn360Lys)
12g.56004449G>ACA385290721SUOXc.1060G>A (p.Gly354Arg)
c.*248G>A (n.*248G>A)
c.1081G>A (p.Gly361Arg)
12g.56004449G>CCA385290725SUOXc.1060G>C (p.Gly354Arg)
c.*248G>C (n.*248G>C)
c.1081G>C (p.Gly361Arg)
12g.56004449G>TCA385290728SUOXc.1060G>T (p.Gly354Trp)
c.*248G>T (n.*248G>T)
c.1081G>T (p.Gly361Trp)
12g.56004450G>ACA385290731SUOXc.1061G>A (p.Gly354Glu)
c.*249G>A (n.*249G>A)
c.1082G>A (p.Gly361Glu)
 gnomAD v4
12g.56004450G>CCA385290737SUOXc.1061G>C (p.Gly354Ala)
c.*249G>C (n.*249G>C)
c.1082G>C (p.Gly361Ala)
12g.56004450G>TCA385290734SUOXc.1061G>T (p.Gly354Val)
c.*249G>T (n.*249G>T)
c.1082G>T (p.Gly361Val)
12g.56004451G>ACA480366332SUOXc.1062G>A (p.Gly354=)
c.*250G>A (n.*250G>A)
c.1083G>A (p.Gly361=)
 gnomAD v4
12g.56004451G>CCA480366334SUOXc.1062G>C (p.Gly354=)
c.*250G>C (n.*250G>C)
c.1083G>C (p.Gly361=)
12g.56004451G>TCA480366333SUOXc.1062G>T (p.Gly354=)
c.*250G>T (n.*250G>T)
c.1083G>T (p.Gly361=)
12g.56004452C>ACA385290741SUOXc.1063C>A (p.Gln355Lys)
c.*251C>A (n.*251C>A)
c.1084C>A (p.Gln362Lys)
12g.56004452C>GCA385290744SUOXc.1063C>G (p.Gln355Glu)
c.*251C>G (n.*251C>G)
c.1084C>G (p.Gln362Glu)
12g.56004452C>TCA385290747SUOXc.1063C>T (p.Gln355Ter)
c.*251C>T (n.*251C>T)
c.1084C>T (p.Gln362Ter)
 gnomAD v4
12g.56004453A>CCA385290751SUOXc.1064A>C (p.Gln355Pro)
c.*252A>C (n.*252A>C)
c.1085A>C (p.Gln362Pro)
12g.56004453A>GCA385290754SUOXc.1064A>G (p.Gln355Arg)
c.*252A>G (n.*252A>G)
c.1085A>G (p.Gln362Arg)
12g.56004453A>TCA385290756SUOXc.1064A>T (p.Gln355Leu)
c.*252A>T (n.*252A>T)
c.1085A>T (p.Gln362Leu)
12g.56004454G>ACA480366340SUOXc.1065G>A (p.Gln355=)
c.*253G>A (n.*253G>A)
c.1086G>A (p.Gln362=)
12g.56004454G>CCA385290757SUOXc.1065G>C (p.Gln355His)
c.*253G>C (n.*253G>C)
c.1086G>C (p.Gln362His)
12g.56004454G>TCA385290761SUOXc.1065G>T (p.Gln355His)
c.*253G>T (n.*253G>T)
c.1086G>T (p.Gln362His)
12g.56004455C>ACA385290766SUOXc.1066C>A (p.Pro356Thr)
c.*254C>A (n.*254C>A)
c.1087C>A (p.Pro363Thr)
12g.56004455C>GCA385290768SUOXc.1066C>G (p.Pro356Ala)
c.*254C>G (n.*254C>G)
c.1087C>G (p.Pro363Ala)
12g.56004455C>TCA385290773SUOXc.1066C>T (p.Pro356Ser)
c.*254C>T (n.*254C>T)
c.1087C>T (p.Pro363Ser)
12g.56004456C>ACA385290782SUOXc.1067C>A (p.Pro356His)
c.*255C>A (n.*255C>A)
c.1088C>A (p.Pro363His)
 COSMIC
12g.56004456C>GCA385290785SUOXc.1067C>G (p.Pro356Arg)
c.*255C>G (n.*255C>G)
c.1088C>G (p.Pro363Arg)
12g.56004456C>TCA385290779SUOXc.1067C>T (p.Pro356Leu)
c.*255C>T (n.*255C>T)
c.1088C>T (p.Pro363Leu)
12g.56004457T>ACA480366344SUOXc.1068T>A (p.Pro356=)
c.*256T>A (n.*256T>A)
c.1089T>A (p.Pro363=)
12g.56004457T>CCA480366346SUOXc.1068T>C (p.Pro356=)
c.*256T>C (n.*256T>C)
c.1089T>C (p.Pro363=)
12g.56004457T>GCA480366347SUOXc.1068T>G (p.Pro356=)
c.*256T>G (n.*256T>G)
c.1089T>G (p.Pro363=)
12g.56004458C>ACA385290792SUOXc.1069C>A (p.Leu357Met)
c.*257C>A (n.*257C>A)
c.1090C>A (p.Leu364Met)
12g.56004458C=CA2038197875SUOXc.1069C= (p.Leu357=)
c.*257C= (n.*257C=)
c.1090C= (p.Leu364=)
12g.56004458C>GCA385290796SUOXc.1069C>G (p.Leu357Val)
c.*257C>G (n.*257C>G)
c.1090C>G (p.Leu364Val)
12g.56004458C>TCA237605254SUOXc.1069C>T (p.Leu357=)
c.*257C>T (n.*257C>T)
c.1090C>T (p.Leu364=)
 dbSNP
12g.56004459T>ACA385290804SUOXc.1070T>A (p.Leu357Gln)
c.*258T>A (n.*258T>A)
c.1091T>A (p.Leu364Gln)
12g.56004459T>CCA385290807SUOXc.1070T>C (p.Leu357Pro)
c.*258T>C (n.*258T>C)
c.1091T>C (p.Leu364Pro)
12g.56004459T>GCA385290809SUOXc.1070T>G (p.Leu357Arg)
c.*258T>G (n.*258T>G)
c.1091T>G (p.Leu364Arg)
 dbSNP
12g.56004459T=CA2038197876SUOXc.1070T= (p.Leu357=)
c.*258T= (n.*258T=)
c.1091T= (p.Leu364=)
12g.56004459_56004460delinsTGCA2038197877SUOXc.1070_1071delinsTG (p.Leu357=)
c.*258_*259delinsTG (n.*258_*259delinsTG)
c.1091_1092delinsTG (p.Leu364=)
12g.56004460delCA2038197878SUOXc.1071del (p.Pro358HisfsTer27)
c.*259del (n.*259del)
c.1092del (p.Pro365HisfsTer27)
 ClinVar dbSNP
12g.56004460G>ACA480366350SUOXc.1071G>A (p.Leu357=)
c.*259G>A (n.*259G>A)
c.1092G>A (p.Leu364=)
12g.56004460G>CCA480366352SUOXc.1071G>C (p.Leu357=)
c.*259G>C (n.*259G>C)
c.1092G>C (p.Leu364=)
12g.56004460G>TCA480366353SUOXc.1071G>T (p.Leu357=)
c.*259G>T (n.*259G>T)
c.1092G>T (p.Leu364=)
12g.56004461C>ACA385290814SUOXc.1072C>A (p.Pro358Thr)
c.*260C>A (n.*260C>A)
c.1093C>A (p.Pro365Thr)
12g.56004461C>GCA385290817SUOXc.1072C>G (p.Pro358Ala)
c.*260C>G (n.*260C>G)
c.1093C>G (p.Pro365Ala)
12g.56004461C>TCA385290819SUOXc.1072C>T (p.Pro358Ser)
c.*260C>T (n.*260C>T)
c.1093C>T (p.Pro365Ser)
 gnomAD v4
12g.56004462C>ACA385290825SUOXc.1073C>A (p.Pro358Gln)
c.*261C>A (n.*261C>A)
c.1094C>A (p.Pro365Gln)
12g.56004462C=CA2038197879SUOXc.1073C= (p.Pro358=)
c.*261C= (n.*261C=)
c.1094C= (p.Pro365=)
12g.56004462C>GCA385290828SUOXc.1073C>G (p.Pro358Arg)
c.*261C>G (n.*261C>G)
c.1094C>G (p.Pro365Arg)
12g.56004462C>TCA6621091SUOXc.1073C>T (p.Pro358Leu)
c.*261C>T (n.*261C>T)
c.1094C>T (p.Pro365Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004463A>CCA480366356SUOXc.1074A>C (p.Pro358=)
c.*262A>C (n.*262A>C)
c.1095A>C (p.Pro365=)
12g.56004463A>GCA480366358SUOXc.1074A>G (p.Pro358=)
c.*262A>G (n.*262A>G)
c.1095A>G (p.Pro365=)
12g.56004463A>TCA480366359SUOXc.1074A>T (p.Pro358=)
c.*262A>T (n.*262A>T)
c.1095A>T (p.Pro365=)
12g.56004464C>ACA385290838SUOXc.1075C>A (p.Arg359Ser)
c.*263C>A (n.*263C>A)
c.1096C>A (p.Arg366Ser)
12g.56004464C=CA2038197880SUOXc.1075C= (p.Arg359=)
c.*263C= (n.*263C=)
c.1096C= (p.Arg366=)
12g.56004464C>GCA385290841SUOXc.1075C>G (p.Arg359Gly)
c.*263C>G (n.*263C>G)
c.1096C>G (p.Arg366Gly)
12g.56004464C>TCA385290836SUOXc.1075C>T (p.Arg359Cys)
c.*263C>T (n.*263C>T)
c.1096C>T (p.Arg366Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.56004465G>ACA6621092SUOXc.1076G>A (p.Arg359His)
c.*264G>A (n.*264G>A)
c.1097G>A (p.Arg366His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004465G>CCA385290848SUOXc.1076G>C (p.Arg359Pro)
c.*264G>C (n.*264G>C)
c.1097G>C (p.Arg366Pro)
12g.56004465G=CA2038197881SUOXc.1076G= (p.Arg359=)
c.*264G= (n.*264G=)
c.1097G= (p.Arg366=)
12g.56004465G>TCA385290851SUOXc.1076G>T (p.Arg359Leu)
c.*264G>T (n.*264G>T)
c.1097G>T (p.Arg366Leu)
12g.56004466T>ACA480366361SUOXc.1077T>A (p.Arg359=)
c.*265T>A (n.*265T>A)
c.1098T>A (p.Arg366=)
12g.56004466T>CCA480366362SUOXc.1077T>C (p.Arg359=)
c.*265T>C (n.*265T>C)
c.1098T>C (p.Arg366=)
12g.56004466T>GCA480366363SUOXc.1077T>G (p.Arg359=)
c.*265T>G (n.*265T>G)
c.1098T>G (p.Arg366=)
12g.56004467G>ACA385290854SUOXc.1078G>A (p.Asp360Asn)
c.*266G>A (n.*266G>A)
c.1099G>A (p.Asp367Asn)
12g.56004467G>CCA385290856SUOXc.1078G>C (p.Asp360His)
c.*266G>C (n.*266G>C)
c.1099G>C (p.Asp367His)
12g.56004467G>TCA385290860SUOXc.1078G>T (p.Asp360Tyr)
c.*266G>T (n.*266G>T)
c.1099G>T (p.Asp367Tyr)
12g.56004468A=CA2038197882SUOXc.1079A= (p.Asp360=)
c.*267A= (n.*267A=)
c.1100A= (p.Asp367=)
12g.56004468A>CCA385290870SUOXc.1079A>C (p.Asp360Ala)
c.*267A>C (n.*267A>C)
c.1100A>C (p.Asp367Ala)
 dbSNP
12g.56004468A>GCA385290866SUOXc.1079A>G (p.Asp360Gly)
c.*267A>G (n.*267A>G)
c.1100A>G (p.Asp367Gly)
12g.56004468A>TCA385290867SUOXc.1079A>T (p.Asp360Val)
c.*267A>T (n.*267A>T)
c.1100A>T (p.Asp367Val)
12g.56004469C>ACA385290872SUOXc.1080C>A (p.Asp360Glu)
c.*268C>A (n.*268C>A)
c.1101C>A (p.Asp367Glu)
12g.56004469C>GCA385290876SUOXc.1080C>G (p.Asp360Glu)
c.*268C>G (n.*268C>G)
c.1101C>G (p.Asp367Glu)
12g.56004469C>TCA480366366SUOXc.1080C>T (p.Asp360=)
c.*268C>T (n.*268C>T)
c.1101C>T (p.Asp367=)
12g.56004470C>ACA385290880SUOXc.1081C>A (p.His361Asn)
c.*269C>A (n.*269C>A)
c.1102C>A (p.His368Asn)
12g.56004470C=CA2038197883SUOXc.1081C= (p.His361=)
c.*269C= (n.*269C=)
c.1102C= (p.His368=)
12g.56004470C>GCA385290883SUOXc.1081C>G (p.His361Asp)
c.*269C>G (n.*269C>G)
c.1102C>G (p.His368Asp)
12g.56004470C>TCA237605256SUOXc.1081C>T (p.His361Tyr)
c.*269C>T (n.*269C>T)
c.1102C>T (p.His368Tyr)
 dbSNP gnomAD v4
12g.56004471A>CCA385290890SUOXc.1082A>C (p.His361Pro)
c.*270A>C (n.*270A>C)
c.1103A>C (p.His368Pro)
12g.56004471A>GCA385290896SUOXc.1082A>G (p.His361Arg)
c.*270A>G (n.*270A>G)
c.1103A>G (p.His368Arg)
12g.56004471A>TCA385290894SUOXc.1082A>T (p.His361Leu)
c.*270A>T (n.*270A>T)
c.1103A>T (p.His368Leu)
12g.56004472C>ACA385290901SUOXc.1083C>A (p.His361Gln)
c.*271C>A (n.*271C>A)
c.1104C>A (p.His368Gln)
12g.56004472C=CA2038197884SUOXc.1083C= (p.His361=)
c.*271C= (n.*271C=)
c.1104C= (p.His368=)
12g.56004472C>GCA385290908SUOXc.1083C>G (p.His361Gln)
c.*271C>G (n.*271C>G)
c.1104C>G (p.His368Gln)
12g.56004472C>TCA6621093SUOXc.1083C>T (p.His361=)
c.*271C>T (n.*271C>T)
c.1104C>T (p.His368=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004473G>ACA6621094SUOXc.1084G>A (p.Gly362Ser)
c.*272G>A (n.*272G>A)
c.1105G>A (p.Gly369Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004473G>CCA385290915SUOXc.1084G>C (p.Gly362Arg)
c.*272G>C (n.*272G>C)
c.1105G>C (p.Gly369Arg)
 gnomAD v4
12g.56004473G=CA2038197885SUOXc.1084G= (p.Gly362=)
c.*272G= (n.*272G=)
c.1105G= (p.Gly369=)
12g.56004473G>TCA385290917SUOXc.1084G>T (p.Gly362Cys)
c.*272G>T (n.*272G>T)
c.1105G>T (p.Gly369Cys)
12g.56004474G>ACA385290923SUOXc.1085G>A (p.Gly362Asp)
c.*273G>A (n.*273G>A)
c.1106G>A (p.Gly369Asp)
12g.56004474G>CCA385290926SUOXc.1085G>C (p.Gly362Ala)
c.*273G>C (n.*273G>C)
c.1106G>C (p.Gly369Ala)
12g.56004474G>TCA385290928SUOXc.1085G>T (p.Gly362Val)
c.*273G>T (n.*273G>T)
c.1106G>T (p.Gly369Val)
 gnomAD v4
12g.56004475C>ACA480366376SUOXc.1086C>A (p.Gly362=)
c.*274C>A (n.*274C>A)
c.1107C>A (p.Gly369=)
12g.56004475C=CA2038197886SUOXc.1086C= (p.Gly362=)
c.*274C= (n.*274C=)
c.1107C= (p.Gly369=)
12g.56004475C>GCA237605260SUOXc.1086C>G (p.Gly362=)
c.*274C>G (n.*274C>G)
c.1107C>G (p.Gly369=)
 dbSNP
12g.56004475C>TCA480366377SUOXc.1086C>T (p.Gly362=)
c.*274C>T (n.*274C>T)
c.1107C>T (p.Gly369=)
12g.56004476T>ACA385290931SUOXc.1087T>A (p.Phe363Ile)
c.*275T>A (n.*275T>A)
c.1108T>A (p.Phe370Ile)
12g.56004476T>CCA385290940SUOXc.1087T>C (p.Phe363Leu)
c.*275T>C (n.*275T>C)
c.1108T>C (p.Phe370Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.56004476T>GCA385290942SUOXc.1087T>G (p.Phe363Val)
c.*275T>G (n.*275T>G)
c.1108T>G (p.Phe370Val)
12g.56004476T=CA2038197887SUOXc.1087T= (p.Phe363=)
c.*275T= (n.*275T=)
c.1108T= (p.Phe370=)
12g.56004477T>ACA385290945SUOXc.1088T>A (p.Phe363Tyr)
c.*276T>A (n.*276T>A)
c.1109T>A (p.Phe370Tyr)
12g.56004477T>CCA385290948SUOXc.1088T>C (p.Phe363Ser)
c.*276T>C (n.*276T>C)
c.1109T>C (p.Phe370Ser)
12g.56004477T>GCA385290951SUOXc.1088T>G (p.Phe363Cys)
c.*276T>G (n.*276T>G)
c.1109T>G (p.Phe370Cys)
12g.56004477T=CA2038197888SUOXc.1088T= (p.Phe363=)
c.*276T= (n.*276T=)
c.1109T= (p.Phe370=)
12g.56004477_56004478insACA237605262SUOXc.1088_1089insA (p.Phe363LeufsTer?)
c.*276_*277insA (n.*276_*277insA)
c.1109_1110insA (p.Phe370LeufsTer?)
 dbSNP
12g.56004478C>ACA385290957SUOXc.1089C>A (p.Phe363Leu)
c.*277C>A (n.*277C>A)
c.1110C>A (p.Phe370Leu)
12g.56004478C>GCA385290959SUOXc.1089C>G (p.Phe363Leu)
c.*277C>G (n.*277C>G)
c.1110C>G (p.Phe370Leu)
12g.56004478C>TCA480366383SUOXc.1089C>T (p.Phe363=)
c.*277C>T (n.*277C>T)
c.1110C>T (p.Phe370=)
12g.56004479C>ACA385290968SUOXc.1090C>A (p.Pro364Thr)
c.*278C>A (n.*278C>A)
c.1111C>A (p.Pro371Thr)
12g.56004479C=CA2038197889SUOXc.1090C= (p.Pro364=)
c.*278C= (n.*278C=)
c.1111C= (p.Pro371=)
12g.56004479C>GCA385290971SUOXc.1090C>G (p.Pro364Ala)
c.*278C>G (n.*278C>G)
c.1111C>G (p.Pro371Ala)
12g.56004479C>TCA237605263SUOXc.1090C>T (p.Pro364Ser)
c.*278C>T (n.*278C>T)
c.1111C>T (p.Pro371Ser)
 dbSNP gnomAD v4
12g.56004480C>ACA385290977SUOXc.1091C>A (p.Pro364His)
c.*279C>A (n.*279C>A)
c.1112C>A (p.Pro371His)
12g.56004480C>GCA385290980SUOXc.1091C>G (p.Pro364Arg)
c.*279C>G (n.*279C>G)
c.1112C>G (p.Pro371Arg)
12g.56004480C>TCA385290982SUOXc.1091C>T (p.Pro364Leu)
c.*279C>T (n.*279C>T)
c.1112C>T (p.Pro371Leu)
 ClinVar dbSNP
12g.56004481T>ACA480366388SUOXc.1092T>A (p.Pro364=)
c.*280T>A (n.*280T>A)
c.1113T>A (p.Pro371=)
12g.56004481T>CCA480366389SUOXc.1092T>C (p.Pro364=)
c.*280T>C (n.*280T>C)
c.1113T>C (p.Pro371=)
12g.56004481T>GCA480366387SUOXc.1092T>G (p.Pro364=)
c.*280T>G (n.*280T>G)
c.1113T>G (p.Pro371=)
12g.56004481T=CA2038197890SUOXc.1092T= (p.Pro364=)
c.*280T= (n.*280T=)
c.1113T= (p.Pro371=)
12g.56004482G>ACA385290986SUOXc.1093G>A (p.Val365Met)
c.*281G>A (n.*281G>A)
c.1114G>A (p.Val372Met)
 ClinVar dbSNP
12g.56004482G>CCA385290988SUOXc.1093G>C (p.Val365Leu)
c.*281G>C (n.*281G>C)
c.1114G>C (p.Val372Leu)
12g.56004482G=CA2038197891SUOXc.1093G= (p.Val365=)
c.*281G= (n.*281G=)
c.1114G= (p.Val372=)
12g.56004482G>TCA385290991SUOXc.1093G>T (p.Val365Leu)
c.*281G>T (n.*281G>T)
c.1114G>T (p.Val372Leu)
12g.56004482_56004497dupCA690168149SUOXc.1093_1108dup (p.Pro370ArgfsTer?)
c.*281_*296dup (n.*281_*296dup)
c.1114_1129dup (p.Pro377ArgfsTer?)
 dbSNP
12g.56004483T>ACA385290994SUOXc.1094T>A (p.Val365Glu)
c.*282T>A (n.*282T>A)
c.1115T>A (p.Val372Glu)
12g.56004483T>CCA385290996SUOXc.1094T>C (p.Val365Ala)
c.*282T>C (n.*282T>C)
c.1115T>C (p.Val372Ala)
 gnomAD v3 gnomAD v4
12g.56004483T>GCA385290999SUOXc.1094T>G (p.Val365Gly)
c.*282T>G (n.*282T>G)
c.1115T>G (p.Val372Gly)
12g.56004484G>ACA480366392SUOXc.1095G>A (p.Val365=)
c.*283G>A (n.*283G>A)
c.1116G>A (p.Val372=)
 ClinVar dbSNP
12g.56004484G>CCA480366393SUOXc.1095G>C (p.Val365=)
c.*283G>C (n.*283G>C)
c.1116G>C (p.Val372=)
12g.56004484G=CA2038197892SUOXc.1095G= (p.Val365=)
c.*283G= (n.*283G=)
c.1116G= (p.Val372=)
12g.56004484G>TCA480366394SUOXc.1095G>T (p.Val365=)
c.*283G>T (n.*283G>T)
c.1116G>T (p.Val372=)
 gnomAD v4
12g.56004485C>ACA6621095SUOXc.1096C>A (p.Arg366Ser)
c.*284C>A (n.*284C>A)
c.1117C>A (p.Arg373Ser)
 dbSNP ExAC gnomAD v2
12g.56004485C=CA2038197894SUOXc.1096C= (p.Arg366=)
c.*284C= (n.*284C=)
c.1117C= (p.Arg373=)
12g.56004485C>GCA385291007SUOXc.1096C>G (p.Arg366Gly)
c.*284C>G (n.*284C>G)
c.1117C>G (p.Arg373Gly)
12g.56004485C>TCA6621096SUOXc.1096C>T (p.Arg366Cys)
c.*284C>T (n.*284C>T)
c.1117C>T (p.Arg373Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004485dupCA2038197893SUOXc.1096dup (p.Arg366ProfsTer?)
c.*284dup (n.*284dup)
c.1117dup (p.Arg373ProfsTer?)
 ClinVar dbSNP
12g.56004486G>ACA6621097SUOXc.1097G>A (p.Arg366His)
c.*285G>A (n.*285G>A)
c.1118G>A (p.Arg373His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004486G>CCA385291012SUOXc.1097G>C (p.Arg366Pro)
c.*285G>C (n.*285G>C)
c.1118G>C (p.Arg373Pro)
12g.56004486G=CA2038197895SUOXc.1097G= (p.Arg366=)
c.*285G= (n.*285G=)
c.1118G= (p.Arg373=)
12g.56004486G>TCA385291016SUOXc.1097G>T (p.Arg366Leu)
c.*285G>T (n.*285G>T)
c.1118G>T (p.Arg373Leu)
12g.56004487T>ACA480366398SUOXc.1098T>A (p.Arg366=)
c.*286T>A (n.*286T>A)
c.1119T>A (p.Arg373=)
12g.56004487T>CCA480366399SUOXc.1098T>C (p.Arg366=)
c.*286T>C (n.*286T>C)
c.1119T>C (p.Arg373=)
 dbSNP
12g.56004487T>GCA480366400SUOXc.1098T>G (p.Arg366=)
c.*286T>G (n.*286T>G)
c.1119T>G (p.Arg373=)
12g.56004487T=CA2038197896SUOXc.1098T= (p.Arg366=)
c.*286T= (n.*286T=)
c.1119T= (p.Arg373=)
12g.56004488G>ACA385291022SUOXc.1099G>A (p.Val367Met)
c.*287G>A (n.*287G>A)
c.1120G>A (p.Val374Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004488G>CCA385291026SUOXc.1099G>C (p.Val367Leu)
c.*287G>C (n.*287G>C)
c.1120G>C (p.Val374Leu)
12g.56004488G=CA2038197897SUOXc.1099G= (p.Val367=)
c.*287G= (n.*287G=)
c.1120G= (p.Val374=)
12g.56004488G>TCA385291028SUOXc.1099G>T (p.Val367Leu)
c.*287G>T (n.*287G>T)
c.1120G>T (p.Val374Leu)
 ClinVar dbSNP
12g.56004489T>ACA385291039SUOXc.1100T>A (p.Val367Glu)
c.*288T>A (n.*288T>A)
c.1121T>A (p.Val374Glu)
12g.56004489T>CCA385291037SUOXc.1100T>C (p.Val367Ala)
c.*288T>C (n.*288T>C)
c.1121T>C (p.Val374Ala)
12g.56004489T>GCA385291034SUOXc.1100T>G (p.Val367Gly)
c.*288T>G (n.*288T>G)
c.1121T>G (p.Val374Gly)
12g.56004490G>ACA480366405SUOXc.1101G>A (p.Val367=)
c.*289G>A (n.*289G>A)
c.1122G>A (p.Val374=)
 gnomAD v4
12g.56004490G>CCA480366407SUOXc.1101G>C (p.Val367=)
c.*289G>C (n.*289G>C)
c.1122G>C (p.Val374=)
12g.56004490G>TCA480366408SUOXc.1101G>T (p.Val367=)
c.*289G>T (n.*289G>T)
c.1122G>T (p.Val374=)
12g.56004491G>ACA385291042SUOXc.1102G>A (p.Val368Met)
c.*290G>A (n.*290G>A)
c.1123G>A (p.Val375Met)
 gnomAD v4
12g.56004491G>CCA385291043SUOXc.1102G>C (p.Val368Leu)
c.*290G>C (n.*290G>C)
c.1123G>C (p.Val375Leu)
12g.56004491G>TCA385291044SUOXc.1102G>T (p.Val368Leu)
c.*290G>T (n.*290G>T)
c.1123G>T (p.Val375Leu)
12g.56004492T>ACA385291046SUOXc.1103T>A (p.Val368Glu)
c.*291T>A (n.*291T>A)
c.1124T>A (p.Val375Glu)
12g.56004492T>CCA385291049SUOXc.1103T>C (p.Val368Ala)
c.*291T>C (n.*291T>C)
c.1124T>C (p.Val375Ala)
12g.56004492T>GCA385291050SUOXc.1103T>G (p.Val368Gly)
c.*291T>G (n.*291T>G)
c.1124T>G (p.Val375Gly)
12g.56004493G>ACA480366409SUOXc.1104G>A (p.Val368=)
c.*292G>A (n.*292G>A)
c.1125G>A (p.Val375=)
12g.56004493G>CCA480366411SUOXc.1104G>C (p.Val368=)
c.*292G>C (n.*292G>C)
c.1125G>C (p.Val375=)
 gnomAD v4
12g.56004493G>TCA480366412SUOXc.1104G>T (p.Val368=)
c.*292G>T (n.*292G>T)
c.1125G>T (p.Val375=)
12g.56004494G>ACA385291055SUOXc.1105G>A (p.Val369Ile)
c.*293G>A (n.*293G>A)
c.1126G>A (p.Val376Ile)
 gnomAD v4
12g.56004494G>CCA385291063SUOXc.1105G>C (p.Val369Leu)
c.*293G>C (n.*293G>C)
c.1126G>C (p.Val376Leu)
12g.56004494G=CA2038197898SUOXc.1105G= (p.Val369=)
c.*293G= (n.*293G=)
c.1126G= (p.Val376=)
12g.56004494G>TCA385291057SUOXc.1105G>T (p.Val369Phe)
c.*293G>T (n.*293G>T)
c.1126G>T (p.Val376Phe)
 dbSNP gnomAD v3 gnomAD v4
12g.56004495T>ACA385291064SUOXc.1106T>A (p.Val369Asp)
c.*294T>A (n.*294T>A)
c.1127T>A (p.Val376Asp)
12g.56004495T>CCA385291067SUOXc.1106T>C (p.Val369Ala)
c.*294T>C (n.*294T>C)
c.1127T>C (p.Val376Ala)
12g.56004495T>GCA385291070SUOXc.1106T>G (p.Val369Gly)
c.*294T>G (n.*294T>G)
c.1127T>G (p.Val376Gly)
 dbSNP
12g.56004495T=CA2038197899SUOXc.1106T= (p.Val369=)
c.*294T= (n.*294T=)
c.1127T= (p.Val376=)
12g.56004496T>ACA480366418SUOXc.1107T>A (p.Val369=)
c.*295T>A (n.*295T>A)
c.1128T>A (p.Val376=)
12g.56004496T>CCA480366419SUOXc.1107T>C (p.Val369=)
c.*295T>C (n.*295T>C)
c.1128T>C (p.Val376=)
12g.56004496T>GCA480366420SUOXc.1107T>G (p.Val369=)
c.*295T>G (n.*295T>G)
c.1128T>G (p.Val376=)
12g.56004496_56004497delinsTCCA2038197900SUOXc.1107_1108delinsTC (p.Val369=)
c.*295_*296delinsTC (n.*295_*296delinsTC)
c.1128_1129delinsTC (p.Val376=)
12g.56004497C>ACA385291074SUOXc.1108C>A (p.Pro370Thr)
c.*296C>A (n.*296C>A)
c.1129C>A (p.Pro377Thr)
12g.56004497C>GCA385291077SUOXc.1108C>G (p.Pro370Ala)
c.*296C>G (n.*296C>G)
c.1129C>G (p.Pro377Ala)
 gnomAD v4
12g.56004497C>TCA385291080SUOXc.1108C>T (p.Pro370Ser)
c.*296C>T (n.*296C>T)
c.1129C>T (p.Pro377Ser)
 gnomAD v4
12g.56004498delCA947977023SUOXc.1109del (p.Pro370LeufsTer15)
c.*297del (n.*297del)
c.1130del (p.Pro377LeufsTer15)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.56004498C>ACA385291083SUOXc.1109C>A (p.Pro370His)
c.*297C>A (n.*297C>A)
c.1130C>A (p.Pro377His)
12g.56004498C=CA2038197901SUOXc.1109C= (p.Pro370=)
c.*297C= (n.*297C=)
c.1130C= (p.Pro377=)
12g.56004498C>GCA385291086SUOXc.1109C>G (p.Pro370Arg)
c.*297C>G (n.*297C>G)
c.1130C>G (p.Pro377Arg)
 dbSNP
12g.56004498C>TCA385291089SUOXc.1109C>T (p.Pro370Leu)
c.*297C>T (n.*297C>T)
c.1130C>T (p.Pro377Leu)
 gnomAD v4
12g.56004499T>ACA480366422SUOXc.1110T>A (p.Pro370=)
c.*298T>A (n.*298T>A)
c.1131T>A (p.Pro377=)
12g.56004499T>CCA480366423SUOXc.1110T>C (p.Pro370=)
c.*298T>C (n.*298T>C)
c.1131T>C (p.Pro377=)
 gnomAD v4
12g.56004499T>GCA480366436SUOXc.1110T>G (p.Pro370=)
c.*298T>G (n.*298T>G)
c.1131T>G (p.Pro377=)

Number of alleles fetched