Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.56004517C>ACA480366471SUOXc.1128C>A (p.Arg376=)
c.*316C>A (n.*316C>A)
c.1149C>A (p.Arg383=)
12g.56004517C=CA2038197917SUOXc.1128C= (p.Arg376=)
c.*316C= (n.*316C=)
c.1149C= (p.Arg383=)
12g.56004517C>GCA480366472SUOXc.1128C>G (p.Arg376=)
c.*316C>G (n.*316C>G)
c.1149C>G (p.Arg383=)
12g.56004517C>TCA6621108SUOXc.1128C>T (p.Arg376=)
c.*316C>T (n.*316C>T)
c.1149C>T (p.Arg383=)
 dbSNP ExAC
12g.56004518C>ACA385291212SUOXc.1129C>A (p.His377Asn)
c.*317C>A (n.*317C>A)
c.1150C>A (p.His384Asn)
12g.56004518C=CA2038197918SUOXc.1129C= (p.His377=)
c.*317C= (n.*317C=)
c.1150C= (p.His384=)
12g.56004518C>GCA385291214SUOXc.1129C>G (p.His377Asp)
c.*317C>G (n.*317C>G)
c.1150C>G (p.His384Asp)
12g.56004518C>TCA6621109SUOXc.1129C>T (p.His377Tyr)
c.*317C>T (n.*317C>T)
c.1150C>T (p.His384Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004519A=CA2038197919SUOXc.1130A= (p.His377=)
c.*318A= (n.*318A=)
c.1151A= (p.His384=)
12g.56004519A>CCA6621110SUOXc.1130A>C (p.His377Pro)
c.*318A>C (n.*318A>C)
c.1151A>C (p.His384Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004519A>GCA385291222SUOXc.1130A>G (p.His377Arg)
c.*318A>G (n.*318A>G)
c.1151A>G (p.His384Arg)
12g.56004519A>TCA6621111SUOXc.1130A>T (p.His377Leu)
c.*318A>T (n.*318A>T)
c.1151A>T (p.His384Leu)
 dbSNP ExAC
12g.56004520T>ACA385291226SUOXc.1131T>A (p.His377Gln)
c.*319T>A (n.*319T>A)
c.1152T>A (p.His384Gln)
12g.56004520T>CCA480366477SUOXc.1131T>C (p.His377=)
c.*319T>C (n.*319T>C)
c.1152T>C (p.His384=)
12g.56004520T>GCA385291229SUOXc.1131T>G (p.His377Gln)
c.*319T>G (n.*319T>G)
c.1152T>G (p.His384Gln)
12g.56004521G>ACA385291235SUOXc.1132G>A (p.Val378Ile)
c.*320G>A (n.*320G>A)
c.1153G>A (p.Val385Ile)
12g.56004521G>CCA6621112SUOXc.1132G>C (p.Val378Leu)
c.*320G>C (n.*320G>C)
c.1153G>C (p.Val385Leu)
 dbSNP ExAC
12g.56004521G=CA2038197920SUOXc.1132G= (p.Val378=)
c.*320G= (n.*320G=)
c.1153G= (p.Val385=)
12g.56004521G>TCA385291240SUOXc.1132G>T (p.Val378Phe)
c.*320G>T (n.*320G>T)
c.1153G>T (p.Val385Phe)
12g.56004522T>ACA385291253SUOXc.1133T>A (p.Val378Asp)
c.*321T>A (n.*321T>A)
c.1154T>A (p.Val385Asp)
12g.56004522T>CCA385291249SUOXc.1133T>C (p.Val378Ala)
c.*321T>C (n.*321T>C)
c.1154T>C (p.Val385Ala)
12g.56004522T>GCA385291246SUOXc.1133T>G (p.Val378Gly)
c.*321T>G (n.*321T>G)
c.1154T>G (p.Val385Gly)
12g.56004523C>ACA480366483SUOXc.1134C>A (p.Val378=)
c.*322C>A (n.*322C>A)
c.1155C>A (p.Val385=)
 ClinVar dbSNP gnomAD v4
12g.56004523C=CA2038197921SUOXc.1134C= (p.Val378=)
c.*322C= (n.*322C=)
c.1155C= (p.Val385=)
12g.56004523C>GCA480366485SUOXc.1134C>G (p.Val378=)
c.*322C>G (n.*322C>G)
c.1155C>G (p.Val385=)
12g.56004523C>TCA6621113SUOXc.1134C>T (p.Val378=)
c.*322C>T (n.*322C>T)
c.1155C>T (p.Val385=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004524A>CCA385291255SUOXc.1135A>C (p.Lys379Gln)
c.*323A>C (n.*323A>C)
c.1156A>C (p.Lys386Gln)
 ClinVar gnomAD v4
12g.56004524A>GCA385291257SUOXc.1135A>G (p.Lys379Glu)
c.*323A>G (n.*323A>G)
c.1156A>G (p.Lys386Glu)
12g.56004524A>TCA385291260SUOXc.1135A>T (p.Lys379Ter)
c.*323A>T (n.*323A>T)
c.1156A>T (p.Lys386Ter)
 gnomAD v4
12g.56004525A=CA2038197922SUOXc.1136A= (p.Lys379=)
c.*324A= (n.*324A=)
c.1157A= (p.Lys386=)
12g.56004525A>CCA385291263SUOXc.1136A>C (p.Lys379Thr)
c.*324A>C (n.*324A>C)
c.1157A>C (p.Lys386Thr)
12g.56004525A>GCA6621114SUOXc.1136A>G (p.Lys379Arg)
c.*324A>G (n.*324A>G)
c.1157A>G (p.Lys386Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004525A>TCA385291265SUOXc.1136A>T (p.Lys379Ile)
c.*324A>T (n.*324A>T)
c.1157A>T (p.Lys386Ile)
12g.56004526A=CA2038197923SUOXc.1137A= (p.Lys379=)
c.*325A= (n.*325A=)
c.1158A= (p.Lys386=)
12g.56004526A>CCA385291271SUOXc.1137A>C (p.Lys379Asn)
c.*325A>C (n.*325A>C)
c.1158A>C (p.Lys386Asn)
 gnomAD v4
12g.56004526A>GCA6621115SUOXc.1137A>G (p.Lys379=)
c.*325A>G (n.*325A>G)
c.1158A>G (p.Lys386=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004526A>TCA385291290SUOXc.1137A>T (p.Lys379Asn)
c.*325A>T (n.*325A>T)
c.1158A>T (p.Lys386Asn)
12g.56004527T>ACA385291295SUOXc.1138T>A (p.Trp380Arg)
c.*326T>A (n.*326T>A)
c.1159T>A (p.Trp387Arg)
12g.56004527T>CCA385291299SUOXc.1138T>C (p.Trp380Arg)
c.*326T>C (n.*326T>C)
c.1159T>C (p.Trp387Arg)
12g.56004527T>GCA385291303SUOXc.1138T>G (p.Trp380Gly)
c.*326T>G (n.*326T>G)
c.1159T>G (p.Trp387Gly)
12g.56004528G>ACA385291308SUOXc.1139G>A (p.Trp380Ter)
c.*327G>A (n.*327G>A)
c.1160G>A (p.Trp387Ter)
12g.56004528G>CCA385291311SUOXc.1139G>C (p.Trp380Ser)
c.*327G>C (n.*327G>C)
c.1160G>C (p.Trp387Ser)
12g.56004528G>TCA385291304SUOXc.1139G>T (p.Trp380Leu)
c.*327G>T (n.*327G>T)
c.1160G>T (p.Trp387Leu)
12g.56004529G>ACA385291318SUOXc.1140G>A (p.Trp380Ter)
c.*328G>A (n.*328G>A)
c.1161G>A (p.Trp387Ter)
12g.56004529G>CCA385291344SUOXc.1140G>C (p.Trp380Cys)
c.*328G>C (n.*328G>C)
c.1161G>C (p.Trp387Cys)
12g.56004529G>TCA385291323SUOXc.1140G>T (p.Trp380Cys)
c.*328G>T (n.*328G>T)
c.1161G>T (p.Trp387Cys)
 gnomAD v4
12g.56004530C>ACA385291347SUOXc.1141C>A (p.Leu381Met)
c.*329C>A (n.*329C>A)
c.1162C>A (p.Leu388Met)
12g.56004530C=CA2038197924SUOXc.1141C= (p.Leu381=)
c.*329C= (n.*329C=)
c.1162C= (p.Leu388=)
12g.56004530C>GCA385291349SUOXc.1141C>G (p.Leu381Val)
c.*329C>G (n.*329C>G)
c.1162C>G (p.Leu388Val)
12g.56004530C>TCA480366494SUOXc.1141C>T (p.Leu381=)
c.*329C>T (n.*329C>T)
c.1162C>T (p.Leu388=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004531T>ACA385291353SUOXc.1142T>A (p.Leu381Gln)
c.*330T>A (n.*330T>A)
c.1163T>A (p.Leu388Gln)
12g.56004531T>CCA385291355SUOXc.1142T>C (p.Leu381Pro)
c.*330T>C (n.*330T>C)
c.1163T>C (p.Leu388Pro)
12g.56004531T>GCA385291357SUOXc.1142T>G (p.Leu381Arg)
c.*330T>G (n.*330T>G)
c.1163T>G (p.Leu388Arg)
12g.56004532G>ACA480366496SUOXc.1143G>A (p.Leu381=)
c.*331G>A (n.*331G>A)
c.1164G>A (p.Leu388=)
12g.56004532G>CCA480366497SUOXc.1143G>C (p.Leu381=)
c.*331G>C (n.*331G>C)
c.1164G>C (p.Leu388=)
12g.56004532G>TCA480366498SUOXc.1143G>T (p.Leu381=)
c.*331G>T (n.*331G>T)
c.1164G>T (p.Leu388=)
12g.56004533G>ACA385291361SUOXc.1144G>A (p.Gly382Ser)
c.*332G>A (n.*332G>A)
c.1165G>A (p.Gly389Ser)
12g.56004533G>CCA385291365SUOXc.1144G>C (p.Gly382Arg)
c.*332G>C (n.*332G>C)
c.1165G>C (p.Gly389Arg)
12g.56004533G>TCA385291368SUOXc.1144G>T (p.Gly382Cys)
c.*332G>T (n.*332G>T)
c.1165G>T (p.Gly389Cys)
12g.56004534G>ACA385291369SUOXc.1145G>A (p.Gly382Asp)
c.*333G>A (n.*333G>A)
c.1166G>A (p.Gly389Asp)
 gnomAD v4
12g.56004534G>CCA385291370SUOXc.1145G>C (p.Gly382Ala)
c.*333G>C (n.*333G>C)
c.1166G>C (p.Gly389Ala)
12g.56004534G>TCA385291373SUOXc.1145G>T (p.Gly382Val)
c.*333G>T (n.*333G>T)
c.1166G>T (p.Gly389Val)
12g.56004535C>ACA480366503SUOXc.1146C>A (p.Gly382=)
c.*334C>A (n.*334C>A)
c.1167C>A (p.Gly389=)
12g.56004535C>GCA480366504SUOXc.1146C>G (p.Gly382=)
c.*334C>G (n.*334C>G)
c.1167C>G (p.Gly389=)
12g.56004535C>TCA480366506SUOXc.1146C>T (p.Gly382=)
c.*334C>T (n.*334C>T)
c.1167C>T (p.Gly389=)
12g.56004536A>CCA480366507SUOXc.1147A>C (p.Arg383=)
c.*335A>C (n.*335A>C)
c.1168A>C (p.Arg390=)
12g.56004536A>GCA385291385SUOXc.1147A>G (p.Arg383Gly)
c.*335A>G (n.*335A>G)
c.1168A>G (p.Arg390Gly)
 gnomAD v4
12g.56004536A>TCA385291391SUOXc.1147A>T (p.Arg383Ter)
c.*335A>T (n.*335A>T)
c.1168A>T (p.Arg390Ter)
12g.56004536_56004540delinsAGAGTCA2038197925SUOXc.1147_1151delinsAGAGT (p.Arg383=)
c.*335_*339delinsAGAGT (n.*335_*339delinsAGAGT)
c.1168_1172delinsAGAGT (p.Arg390=)
12g.56004536_56004537insCTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGTCTGCA2619254094SUOXc.1147_1148insCTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGTCTG (p.Arg383ThrfsTer23)
c.*335_*336insCTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGTCTG (n.*335_*336insCTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGTCTG)
c.1168_1169insCTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGTCTG (p.Arg390ThrfsTer23)
 gnomAD v4
12g.56004537delCA2619254096SUOXc.1148del (p.Arg383LysfsTer2)
c.*336del (n.*336del)
c.1169del (p.Arg390LysfsTer2)
 gnomAD v4
12g.56004537G>ACA385291400SUOXc.1148G>A (p.Arg383Lys)
c.*336G>A (n.*336G>A)
c.1169G>A (p.Arg390Lys)
12g.56004537G>CCA385291396SUOXc.1148G>C (p.Arg383Thr)
c.*336G>C (n.*336G>C)
c.1169G>C (p.Arg390Thr)
12g.56004537G>TCA385291393SUOXc.1148G>T (p.Arg383Ile)
c.*336G>T (n.*336G>T)
c.1169G>T (p.Arg390Ile)
12g.56004542_56004545delCA605401144SUOXc.1153_1156del (p.Ser385CysfsTer27)
c.*341_*344del (n.*341_*344del)
c.1174_1177del (p.Ser392CysfsTer27)
 dbSNP gnomAD v2 gnomAD v4
12g.56004538A>CCA385291404SUOXc.1149A>C (p.Arg383Ser)
c.*337A>C (n.*337A>C)
c.1170A>C (p.Arg390Ser)
12g.56004538A>GCA480366515SUOXc.1149A>G (p.Arg383=)
c.*337A>G (n.*337A>G)
c.1170A>G (p.Arg390=)
 gnomAD v4
12g.56004538A>TCA385291408SUOXc.1149A>T (p.Arg383Ser)
c.*337A>T (n.*337A>T)
c.1170A>T (p.Arg390Ser)
12g.56004539G>ACA385291422SUOXc.1150G>A (p.Val384Met)
c.*338G>A (n.*338G>A)
c.1171G>A (p.Val391Met)
12g.56004539G>CCA385291429SUOXc.1150G>C (p.Val384Leu)
c.*338G>C (n.*338G>C)
c.1171G>C (p.Val391Leu)
 dbSNP
12g.56004539G=CA2038197926SUOXc.1150G= (p.Val384=)
c.*338G= (n.*338G=)
c.1171G= (p.Val391=)
12g.56004539G>TCA385291432SUOXc.1150G>T (p.Val384Leu)
c.*338G>T (n.*338G>T)
c.1171G>T (p.Val391Leu)
12g.56004540T>ACA385291441SUOXc.1151T>A (p.Val384Glu)
c.*339T>A (n.*339T>A)
c.1172T>A (p.Val391Glu)
12g.56004540T>CCA385291442SUOXc.1151T>C (p.Val384Ala)
c.*339T>C (n.*339T>C)
c.1172T>C (p.Val391Ala)
12g.56004540T>GCA385291443SUOXc.1151T>G (p.Val384Gly)
c.*339T>G (n.*339T>G)
c.1172T>G (p.Val391Gly)
 gnomAD v4
12g.56004541G>ACA480366518SUOXc.1152G>A (p.Val384=)
c.*340G>A (n.*340G>A)
c.1173G>A (p.Val391=)
12g.56004541G>CCA480366519SUOXc.1152G>C (p.Val384=)
c.*340G>C (n.*340G>C)
c.1173G>C (p.Val391=)
12g.56004541G=CA2038197927SUOXc.1152G= (p.Val384=)
c.*340G= (n.*340G=)
c.1173G= (p.Val391=)
12g.56004541G>TCA6621116SUOXc.1152G>T (p.Val384=)
c.*340G>T (n.*340G>T)
c.1173G>T (p.Val391=)
 dbSNP ExAC gnomAD v2
12g.56004542A>CCA385291449SUOXc.1153A>C (p.Ser385Arg)
c.*341A>C (n.*341A>C)
c.1174A>C (p.Ser392Arg)
12g.56004542A>GCA385291451SUOXc.1153A>G (p.Ser385Gly)
c.*341A>G (n.*341A>G)
c.1174A>G (p.Ser392Gly)
12g.56004542A>TCA385291457SUOXc.1153A>T (p.Ser385Cys)
c.*341A>T (n.*341A>T)
c.1174A>T (p.Ser392Cys)
12g.56004543G>ACA385291474SUOXc.1154G>A (p.Ser385Asn)
c.*342G>A (n.*342G>A)
c.1175G>A (p.Ser392Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.56004543G>CCA385291470SUOXc.1154G>C (p.Ser385Thr)
c.*342G>C (n.*342G>C)
c.1175G>C (p.Ser392Thr)
12g.56004543G=CA2038197928SUOXc.1154G= (p.Ser385=)
c.*342G= (n.*342G=)
c.1175G= (p.Ser392=)
12g.56004543G>TCA385291464SUOXc.1154G>T (p.Ser385Ile)
c.*342G>T (n.*342G>T)
c.1175G>T (p.Ser392Ile)
 dbSNP gnomAD v2 gnomAD v4
12g.56004544T>ACA385291484SUOXc.1155T>A (p.Ser385Arg)
c.*343T>A (n.*343T>A)
c.1176T>A (p.Ser392Arg)
12g.56004544T>CCA480366524SUOXc.1155T>C (p.Ser385=)
c.*343T>C (n.*343T>C)
c.1176T>C (p.Ser392=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.56004544T>GCA385291491SUOXc.1155T>G (p.Ser385Arg)
c.*343T>G (n.*343T>G)
c.1176T>G (p.Ser392Arg)
12g.56004544T=CA2038197929SUOXc.1155T= (p.Ser385=)
c.*343T= (n.*343T=)
c.1176T= (p.Ser392=)
12g.56004545G>ACA6621117SUOXc.1156G>A (p.Val386Met)
c.*344G>A (n.*344G>A)
c.1177G>A (p.Val393Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004545G>CCA385291496SUOXc.1156G>C (p.Val386Leu)
c.*344G>C (n.*344G>C)
c.1177G>C (p.Val393Leu)
12g.56004545G=CA2038197930SUOXc.1156G= (p.Val386=)
c.*344G= (n.*344G=)
c.1177G= (p.Val393=)
12g.56004545G>TCA385291503SUOXc.1156G>T (p.Val386Leu)
c.*344G>T (n.*344G>T)
c.1177G>T (p.Val393Leu)
12g.56004546T>ACA385291510SUOXc.1157T>A (p.Val386Glu)
c.*345T>A (n.*345T>A)
c.1178T>A (p.Val393Glu)
12g.56004546T>CCA385291515SUOXc.1157T>C (p.Val386Ala)
c.*345T>C (n.*345T>C)
c.1178T>C (p.Val393Ala)
12g.56004546T>GCA385291521SUOXc.1157T>G (p.Val386Gly)
c.*345T>G (n.*345T>G)
c.1178T>G (p.Val393Gly)
12g.56004547G>ACA480366526SUOXc.1158G>A (p.Val386=)
c.*346G>A (n.*346G>A)
c.1179G>A (p.Val393=)
12g.56004547G>CCA480366527SUOXc.1158G>C (p.Val386=)
c.*346G>C (n.*346G>C)
c.1179G>C (p.Val393=)
12g.56004547G>TCA480366528SUOXc.1158G>T (p.Val386=)
c.*346G>T (n.*346G>T)
c.1179G>T (p.Val393=)
12g.56004548C>ACA385291530SUOXc.1159C>A (p.Gln387Lys)
c.*347C>A (n.*347C>A)
c.1180C>A (p.Gln394Lys)
12g.56004548C>GCA385291540SUOXc.1159C>G (p.Gln387Glu)
c.*347C>G (n.*347C>G)
c.1180C>G (p.Gln394Glu)
12g.56004548C>TCA385291559SUOXc.1159C>T (p.Gln387Ter)
c.*347C>T (n.*347C>T)
c.1180C>T (p.Gln394Ter)
 COSMIC
12g.56004549A>CCA385291561SUOXc.1160A>C (p.Gln387Pro)
c.*348A>C (n.*348A>C)
c.1181A>C (p.Gln394Pro)
12g.56004549A>GCA385291562SUOXc.1160A>G (p.Gln387Arg)
c.*348A>G (n.*348A>G)
c.1181A>G (p.Gln394Arg)
 gnomAD v4
12g.56004549A>TCA385291563SUOXc.1160A>T (p.Gln387Leu)
c.*348A>T (n.*348A>T)
c.1181A>T (p.Gln394Leu)
12g.56004550G>ACA480366532SUOXc.1161G>A (p.Gln387=)
c.*349G>A (n.*349G>A)
c.1182G>A (p.Gln394=)
12g.56004550G>CCA385291567SUOXc.1161G>C (p.Gln387His)
c.*349G>C (n.*349G>C)
c.1182G>C (p.Gln394His)
 gnomAD v4
12g.56004550G>TCA385291568SUOXc.1161G>T (p.Gln387His)
c.*349G>T (n.*349G>T)
c.1182G>T (p.Gln394His)
12g.56004551C>ACA6621118SUOXc.1162C>A (p.Pro388Thr)
c.*350C>A (n.*350C>A)
c.1183C>A (p.Pro395Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004551C=CA2038197931SUOXc.1162C= (p.Pro388=)
c.*350C= (n.*350C=)
c.1183C= (p.Pro395=)
12g.56004551C>GCA385291572SUOXc.1162C>G (p.Pro388Ala)
c.*350C>G (n.*350C>G)
c.1183C>G (p.Pro395Ala)
12g.56004551C>TCA385291580SUOXc.1162C>T (p.Pro388Ser)
c.*350C>T (n.*350C>T)
c.1183C>T (p.Pro395Ser)
12g.56004552C>ACA385291591SUOXc.1163C>A (p.Pro388Gln)
c.*351C>A (n.*351C>A)
c.1184C>A (p.Pro395Gln)
12g.56004552C>GCA385291594SUOXc.1163C>G (p.Pro388Arg)
c.*351C>G (n.*351C>G)
c.1184C>G (p.Pro395Arg)
12g.56004552C>TCA385291603SUOXc.1163C>T (p.Pro388Leu)
c.*351C>T (n.*351C>T)
c.1184C>T (p.Pro395Leu)
 gnomAD v4
12g.56004553A=CA2038197932SUOXc.1164A= (p.Pro388=)
c.*352A= (n.*352A=)
c.1185A= (p.Pro395=)
12g.56004553A>CCA480366534SUOXc.1164A>C (p.Pro388=)
c.*352A>C (n.*352A>C)
c.1185A>C (p.Pro395=)
12g.56004553A>GCA237605285SUOXc.1164A>G (p.Pro388=)
c.*352A>G (n.*352A>G)
c.1185A>G (p.Pro395=)
 dbSNP
12g.56004553A>TCA480366536SUOXc.1164A>T (p.Pro388=)
c.*352A>T (n.*352A>T)
c.1185A>T (p.Pro395=)
12g.56004554G>ACA6621119SUOXc.1165G>A (p.Glu389Lys)
c.*353G>A (n.*353G>A)
c.1186G>A (p.Glu396Lys)
 dbSNP ExAC
12g.56004554G>CCA385291617SUOXc.1165G>C (p.Glu389Gln)
c.*353G>C (n.*353G>C)
c.1186G>C (p.Glu396Gln)
12g.56004554G=CA2038197933SUOXc.1165G= (p.Glu389=)
c.*353G= (n.*353G=)
c.1186G= (p.Glu396=)
12g.56004554G>TCA385291635SUOXc.1165G>T (p.Glu389Ter)
c.*353G>T (n.*353G>T)
c.1186G>T (p.Glu396Ter)
12g.56004555A>CCA385291640SUOXc.1166A>C (p.Glu389Ala)
c.*354A>C (n.*354A>C)
c.1187A>C (p.Glu396Ala)
12g.56004555A>GCA385291641SUOXc.1166A>G (p.Glu389Gly)
c.*354A>G (n.*354A>G)
c.1187A>G (p.Glu396Gly)
12g.56004555A>TCA385291645SUOXc.1166A>T (p.Glu389Val)
c.*354A>T (n.*354A>T)
c.1187A>T (p.Glu396Val)
12g.56004556G>ACA480366538SUOXc.1167G>A (p.Glu389=)
c.*355G>A (n.*355G>A)
c.1188G>A (p.Glu396=)
12g.56004556G>CCA385291650SUOXc.1167G>C (p.Glu389Asp)
c.*355G>C (n.*355G>C)
c.1188G>C (p.Glu396Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004556G=CA2038197934SUOXc.1167G= (p.Glu389=)
c.*355G= (n.*355G=)
c.1188G= (p.Glu396=)
12g.56004556G>TCA385291654SUOXc.1167G>T (p.Glu389Asp)
c.*355G>T (n.*355G>T)
c.1188G>T (p.Glu396Asp)
12g.56004557G>ACA385291662SUOXc.1168G>A (p.Glu390Lys)
c.*356G>A (n.*356G>A)
c.1189G>A (p.Glu397Lys)
12g.56004557G>CCA385291665SUOXc.1168G>C (p.Glu390Gln)
c.*356G>C (n.*356G>C)
c.1189G>C (p.Glu397Gln)
12g.56004557G>TCA385291663SUOXc.1168G>T (p.Glu390Ter)
c.*356G>T (n.*356G>T)
c.1189G>T (p.Glu397Ter)
12g.56004558A>CCA385291669SUOXc.1169A>C (p.Glu390Ala)
c.*357A>C (n.*357A>C)
c.1190A>C (p.Glu397Ala)
12g.56004558A>GCA385291674SUOXc.1169A>G (p.Glu390Gly)
c.*357A>G (n.*357A>G)
c.1190A>G (p.Glu397Gly)
12g.56004558A>TCA385291677SUOXc.1169A>T (p.Glu390Val)
c.*357A>T (n.*357A>T)
c.1190A>T (p.Glu397Val)
12g.56004559A>CCA385291685SUOXc.1170A>C (p.Glu390Asp)
c.*358A>C (n.*358A>C)
c.1191A>C (p.Glu397Asp)
12g.56004559A>GCA480366542SUOXc.1170A>G (p.Glu390=)
c.*358A>G (n.*358A>G)
c.1191A>G (p.Glu397=)
12g.56004559A>TCA385291692SUOXc.1170A>T (p.Glu390Asp)
c.*358A>T (n.*358A>T)
c.1191A>T (p.Glu397Asp)
12g.56004560A>CCA385291696SUOXc.1171A>C (p.Ser391Arg)
c.*359A>C (n.*359A>C)
c.1192A>C (p.Ser398Arg)
12g.56004560A>GCA385291697SUOXc.1171A>G (p.Ser391Gly)
c.*359A>G (n.*359A>G)
c.1192A>G (p.Ser398Gly)
12g.56004560A>TCA385291698SUOXc.1171A>T (p.Ser391Cys)
c.*359A>T (n.*359A>T)
c.1192A>T (p.Ser398Cys)
12g.56004561G>ACA385291699SUOXc.1172G>A (p.Ser391Asn)
c.*360G>A (n.*360G>A)
c.1193G>A (p.Ser398Asn)
12g.56004561G>CCA385291702SUOXc.1172G>C (p.Ser391Thr)
c.*360G>C (n.*360G>C)
c.1193G>C (p.Ser398Thr)
12g.56004561G>TCA385291707SUOXc.1172G>T (p.Ser391Ile)
c.*360G>T (n.*360G>T)
c.1193G>T (p.Ser398Ile)
12g.56004562T>ACA385291711SUOXc.1173T>A (p.Ser391Arg)
c.*361T>A (n.*361T>A)
c.1194T>A (p.Ser398Arg)
12g.56004562T>CCA480366546SUOXc.1173T>C (p.Ser391=)
c.*361T>C (n.*361T>C)
c.1194T>C (p.Ser398=)
 ClinVar gnomAD v4
12g.56004562T>GCA385291713SUOXc.1173T>G (p.Ser391Arg)
c.*361T>G (n.*361T>G)
c.1194T>G (p.Ser398Arg)
12g.56004563T>ACA385291715SUOXc.1174T>A (p.Tyr392Asn)
c.*362T>A (n.*362T>A)
c.1195T>A (p.Tyr399Asn)
 gnomAD v4
12g.56004563T>CCA237605287SUOXc.1174T>C (p.Tyr392His)
c.*362T>C (n.*362T>C)
c.1195T>C (p.Tyr399His)
 dbSNP gnomAD v4
12g.56004563T>GCA385291723SUOXc.1174T>G (p.Tyr392Asp)
c.*362T>G (n.*362T>G)
c.1195T>G (p.Tyr399Asp)
 ClinVar dbSNP
12g.56004563T=CA2038197935SUOXc.1174T= (p.Tyr392=)
c.*362T= (n.*362T=)
c.1195T= (p.Tyr399=)
12g.56004564A=CA2038197936SUOXc.1175A= (p.Tyr392=)
c.*363A= (n.*363A=)
c.1196A= (p.Tyr399=)
12g.56004564A>CCA6621120SUOXc.1175A>C (p.Tyr392Ser)
c.*363A>C (n.*363A>C)
c.1196A>C (p.Tyr399Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004564A>GCA6621121SUOXc.1175A>G (p.Tyr392Cys)
c.*363A>G (n.*363A>G)
c.1196A>G (p.Tyr399Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004564A>TCA385291740SUOXc.1175A>T (p.Tyr392Phe)
c.*363A>T (n.*363A>T)
c.1196A>T (p.Tyr399Phe)
12g.56004564dupCA605401151SUOXc.1175dup (p.Tyr392Ter)
c.*363dup (n.*363dup)
c.1196dup (p.Tyr399Ter)
 dbSNP gnomAD v2 gnomAD v4
12g.56004565C>ACA385291745SUOXc.1176C>A (p.Tyr392Ter)
c.*364C>A (n.*364C>A)
c.1197C>A (p.Tyr399Ter)
 COSMIC
12g.56004565C>GCA385291750SUOXc.1176C>G (p.Tyr392Ter)
c.*364C>G (n.*364C>G)
c.1197C>G (p.Tyr399Ter)
12g.56004565C>TCA480366548SUOXc.1176C>T (p.Tyr392=)
c.*364C>T (n.*364C>T)
c.1197C>T (p.Tyr399=)
 gnomAD v4
12g.56004566A=CA2038197937SUOXc.1177A= (p.Ser393=)
c.*365A= (n.*365A=)
c.1198A= (p.Ser400=)
12g.56004566A>CCA385291753SUOXc.1177A>C (p.Ser393Arg)
c.*365A>C (n.*365A>C)
c.1198A>C (p.Ser400Arg)
12g.56004566A>GCA6621122SUOXc.1177A>G (p.Ser393Gly)
c.*365A>G (n.*365A>G)
c.1198A>G (p.Ser400Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004566A>TCA385291760SUOXc.1177A>T (p.Ser393Cys)
c.*365A>T (n.*365A>T)
c.1198A>T (p.Ser400Cys)
12g.56004567G>ACA385291772SUOXc.1178G>A (p.Ser393Asn)
c.*366G>A (n.*366G>A)
c.1199G>A (p.Ser400Asn)
12g.56004567G>CCA385291780SUOXc.1178G>C (p.Ser393Thr)
c.*366G>C (n.*366G>C)
c.1199G>C (p.Ser400Thr)
12g.56004567G>TCA385291783SUOXc.1178G>T (p.Ser393Ile)
c.*366G>T (n.*366G>T)
c.1199G>T (p.Ser400Ile)
12g.56004568C>ACA385291785SUOXc.1179C>A (p.Ser393Arg)
c.*367C>A (n.*367C>A)
c.1200C>A (p.Ser400Arg)
12g.56004568C>GCA385291787SUOXc.1179C>G (p.Ser393Arg)
c.*367C>G (n.*367C>G)
c.1200C>G (p.Ser400Arg)
12g.56004568C>TCA480366552SUOXc.1179C>T (p.Ser393=)
c.*367C>T (n.*367C>T)
c.1200C>T (p.Ser400=)
12g.56004569C>ACA385291792SUOXc.1180C>A (p.His394Asn)
c.*368C>A (n.*368C>A)
c.1201C>A (p.His401Asn)
12g.56004569C>GCA385291795SUOXc.1180C>G (p.His394Asp)
c.*368C>G (n.*368C>G)
c.1201C>G (p.His401Asp)
12g.56004569C>TCA385291814SUOXc.1180C>T (p.His394Tyr)
c.*368C>T (n.*368C>T)
c.1201C>T (p.His401Tyr)
12g.56004570A>CCA385291819SUOXc.1181A>C (p.His394Pro)
c.*369A>C (n.*369A>C)
c.1202A>C (p.His401Pro)
12g.56004570A>GCA385291822SUOXc.1181A>G (p.His394Arg)
c.*369A>G (n.*369A>G)
c.1202A>G (p.His401Arg)
12g.56004570A>TCA385291823SUOXc.1181A>T (p.His394Leu)
c.*369A>T (n.*369A>T)
c.1202A>T (p.His401Leu)
12g.56004571C>ACA385291828SUOXc.1182C>A (p.His394Gln)
c.*370C>A (n.*370C>A)
c.1203C>A (p.His401Gln)
12g.56004571C=CA2038197938SUOXc.1182C= (p.His394=)
c.*370C= (n.*370C=)
c.1203C= (p.His401=)
12g.56004571C>GCA385291827SUOXc.1182C>G (p.His394Gln)
c.*370C>G (n.*370C>G)
c.1203C>G (p.His401Gln)
 dbSNP gnomAD v2 gnomAD v4
12g.56004571C>TCA480366553SUOXc.1182C>T (p.His394=)
c.*370C>T (n.*370C>T)
c.1203C>T (p.His401=)
12g.56004572T>ACA385291829SUOXc.1183T>A (p.Trp395Arg)
c.*371T>A (n.*371T>A)
c.1204T>A (p.Trp402Arg)
12g.56004572T>CCA385291832SUOXc.1183T>C (p.Trp395Arg)
c.*371T>C (n.*371T>C)
c.1204T>C (p.Trp402Arg)
12g.56004572T>GCA385291838SUOXc.1183T>G (p.Trp395Gly)
c.*371T>G (n.*371T>G)
c.1204T>G (p.Trp402Gly)
12g.56004573G>ACA385291844SUOXc.1184G>A (p.Trp395Ter)
c.*372G>A (n.*372G>A)
c.1205G>A (p.Trp402Ter)
 dbSNP
12g.56004573G>CCA385291849SUOXc.1184G>C (p.Trp395Ser)
c.*372G>C (n.*372G>C)
c.1205G>C (p.Trp402Ser)
12g.56004573G=CA2038197939SUOXc.1184G= (p.Trp395=)
c.*372G= (n.*372G=)
c.1205G= (p.Trp402=)
12g.56004573G>TCA385291856SUOXc.1184G>T (p.Trp395Leu)
c.*372G>T (n.*372G>T)
c.1205G>T (p.Trp402Leu)
12g.56004574G>ACA385291859SUOXc.1185G>A (p.Trp395Ter)
c.*373G>A (n.*373G>A)
c.1206G>A (p.Trp402Ter)
12g.56004574G>CCA385291866SUOXc.1185G>C (p.Trp395Cys)
c.*373G>C (n.*373G>C)
c.1206G>C (p.Trp402Cys)
12g.56004574G>TCA385291863SUOXc.1185G>T (p.Trp395Cys)
c.*373G>T (n.*373G>T)
c.1206G>T (p.Trp402Cys)
12g.56004575C>ACA385291875SUOXc.1186C>A (p.Gln396Lys)
c.*374C>A (n.*374C>A)
c.1207C>A (p.Gln403Lys)
12g.56004575C=CA2038197940SUOXc.1186C= (p.Gln396=)
c.*374C= (n.*374C=)
c.1207C= (p.Gln403=)
12g.56004575C>GCA385291879SUOXc.1186C>G (p.Gln396Glu)
c.*374C>G (n.*374C>G)
c.1207C>G (p.Gln403Glu)
12g.56004575C>TCA385291880SUOXc.1186C>T (p.Gln396Ter)
c.*374C>T (n.*374C>T)
c.1207C>T (p.Gln403Ter)
 dbSNP
12g.56004576A=CA2038197941SUOXc.1187A= (p.Gln396=)
c.*375A= (n.*375A=)
c.1208A= (p.Gln403=)
12g.56004576A>CCA6621123SUOXc.1187A>C (p.Gln396Pro)
c.*375A>C (n.*375A>C)
c.1208A>C (p.Gln403Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004576A>GCA385291884SUOXc.1187A>G (p.Gln396Arg)
c.*375A>G (n.*375A>G)
c.1208A>G (p.Gln403Arg)
12g.56004576A>TCA385291889SUOXc.1187A>T (p.Gln396Leu)
c.*375A>T (n.*375A>T)
c.1208A>T (p.Gln403Leu)
12g.56004577A=CA2038197942SUOXc.1188A= (p.Gln396=)
c.*376A= (n.*376A=)
c.1209A= (p.Gln403=)
12g.56004577A>CCA385291899SUOXc.1188A>C (p.Gln396His)
c.*376A>C (n.*376A>C)
c.1209A>C (p.Gln403His)
12g.56004577A>GCA6621124SUOXc.1188A>G (p.Gln396=)
c.*376A>G (n.*376A>G)
c.1209A>G (p.Gln403=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004577A>TCA385291909SUOXc.1188A>T (p.Gln396His)
c.*376A>T (n.*376A>T)
c.1209A>T (p.Gln403His)
12g.56004578C>ACA237605292SUOXc.1189C>A (p.Arg397=)
c.*377C>A (n.*377C>A)
c.1210C>A (p.Arg404=)
 dbSNP
12g.56004578C=CA2038197943SUOXc.1189C= (p.Arg397=)
c.*377C= (n.*377C=)
c.1210C= (p.Arg404=)
12g.56004578C>GCA385291915SUOXc.1189C>G (p.Arg397Gly)
c.*377C>G (n.*377C>G)
c.1210C>G (p.Arg404Gly)
12g.56004578C>TCA6621125SUOXc.1189C>T (p.Arg397Trp)
c.*377C>T (n.*377C>T)
c.1210C>T (p.Arg404Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004579G>ACA237605294SUOXc.1190G>A (p.Arg397Gln)
c.*378G>A (n.*378G>A)
c.1211G>A (p.Arg404Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004579G>CCA385291956SUOXc.1190G>C (p.Arg397Pro)
c.*378G>C (n.*378G>C)
c.1211G>C (p.Arg404Pro)
12g.56004579G=CA2038197944SUOXc.1190G= (p.Arg397=)
c.*378G= (n.*378G=)
c.1211G= (p.Arg404=)
12g.56004579G>TCA385291962SUOXc.1190G>T (p.Arg397Leu)
c.*378G>T (n.*378G>T)
c.1211G>T (p.Arg404Leu)
12g.56004580G>ACA480366563SUOXc.1191G>A (p.Arg397=)
c.*379G>A (n.*379G>A)
c.1212G>A (p.Arg404=)
12g.56004580G>CCA480366561SUOXc.1191G>C (p.Arg397=)
c.*379G>C (n.*379G>C)
c.1212G>C (p.Arg404=)
12g.56004580G>TCA480366560SUOXc.1191G>T (p.Arg397=)
c.*379G>T (n.*379G>T)
c.1212G>T (p.Arg404=)
 gnomAD v4
12g.56004581C>ACA480366564SUOXc.1192C>A (p.Arg398=)
c.*380C>A (n.*380C>A)
c.1213C>A (p.Arg405=)
12g.56004581C=CA2038197945SUOXc.1192C= (p.Arg398=)
c.*380C= (n.*380C=)
c.1213C= (p.Arg405=)
12g.56004581C>GCA385291972SUOXc.1192C>G (p.Arg398Gly)
c.*380C>G (n.*380C>G)
c.1213C>G (p.Arg405Gly)
12g.56004581C>TCA6621126SUOXc.1192C>T (p.Arg398Trp)
c.*380C>T (n.*380C>T)
c.1213C>T (p.Arg405Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004582G>ACA6621127SUOXc.1193G>A (p.Arg398Gln)
c.*381G>A (n.*381G>A)
c.1214G>A (p.Arg405Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.56004582G>CCA385291982SUOXc.1193G>C (p.Arg398Pro)
c.*381G>C (n.*381G>C)
c.1214G>C (p.Arg405Pro)
12g.56004582G=CA2038197946SUOXc.1193G= (p.Arg398=)
c.*381G= (n.*381G=)
c.1214G= (p.Arg405=)
12g.56004582G>TCA385291981SUOXc.1193G>T (p.Arg398Leu)
c.*381G>T (n.*381G>T)
c.1214G>T (p.Arg405Leu)
12g.56004583G>ACA480366565SUOXc.1194G>A (p.Arg398=)
c.*382G>A (n.*382G>A)
c.1215G>A (p.Arg405=)
12g.56004583G>CCA480366567SUOXc.1194G>C (p.Arg398=)
c.*382G>C (n.*382G>C)
c.1215G>C (p.Arg405=)
12g.56004583G>TCA480366566SUOXc.1194G>T (p.Arg398=)
c.*382G>T (n.*382G>T)
c.1215G>T (p.Arg405=)
12g.56004584G>ACA237605297SUOXc.1195G>A (p.Asp399Asn)
c.*383G>A (n.*383G>A)
c.1216G>A (p.Asp406Asn)
 dbSNP gnomAD v4
12g.56004584G>CCA385291992SUOXc.1195G>C (p.Asp399His)
c.*383G>C (n.*383G>C)
c.1216G>C (p.Asp406His)
12g.56004584G=CA2038197947SUOXc.1195G= (p.Asp399=)
c.*383G= (n.*383G=)
c.1216G= (p.Asp406=)
12g.56004584G>TCA237605299SUOXc.1195G>T (p.Asp399Tyr)
c.*383G>T (n.*383G>T)
c.1216G>T (p.Asp406Tyr)
 dbSNP
12g.56004585A=CA2038197948SUOXc.1196A= (p.Asp399=)
c.*384A= (n.*384A=)
c.1217A= (p.Asp406=)
12g.56004585A>CCA385292011SUOXc.1196A>C (p.Asp399Ala)
c.*384A>C (n.*384A>C)
c.1217A>C (p.Asp406Ala)
12g.56004585A>GCA6621128SUOXc.1196A>G (p.Asp399Gly)
c.*384A>G (n.*384A>G)
c.1217A>G (p.Asp406Gly)
 dbSNP ExAC gnomAD v2
12g.56004585A>TCA385292018SUOXc.1196A>T (p.Asp399Val)
c.*384A>T (n.*384A>T)
c.1217A>T (p.Asp406Val)
12g.56004586T>ACA385292023SUOXc.1197T>A (p.Asp399Glu)
c.*385T>A (n.*385T>A)
c.1218T>A (p.Asp406Glu)
12g.56004586T>CCA480366571SUOXc.1197T>C (p.Asp399=)
c.*385T>C (n.*385T>C)
c.1218T>C (p.Asp406=)
12g.56004586T>GCA385292024SUOXc.1197T>G (p.Asp399Glu)
c.*385T>G (n.*385T>G)
c.1218T>G (p.Asp406Glu)
12g.56004587delCA2619254191SUOXc.1198del (p.Tyr400ThrfsTer13)
c.*386del (n.*386del)
c.1219del (p.Tyr407ThrfsTer13)
 gnomAD v4
12g.56004587T>ACA385292028SUOXc.1198T>A (p.Tyr400Asn)
c.*386T>A (n.*386T>A)
c.1219T>A (p.Tyr407Asn)
12g.56004587T>CCA385292031SUOXc.1198T>C (p.Tyr400His)
c.*386T>C (n.*386T>C)
c.1219T>C (p.Tyr407His)
12g.56004587T>GCA385292046SUOXc.1198T>G (p.Tyr400Asp)
c.*386T>G (n.*386T>G)
c.1219T>G (p.Tyr407Asp)
12g.56004588A>CCA385292064SUOXc.1199A>C (p.Tyr400Ser)
c.*387A>C (n.*387A>C)
c.1220A>C (p.Tyr407Ser)
12g.56004588A>GCA385292055SUOXc.1199A>G (p.Tyr400Cys)
c.*387A>G (n.*387A>G)
c.1220A>G (p.Tyr407Cys)
12g.56004588A>TCA385292059SUOXc.1199A>T (p.Tyr400Phe)
c.*387A>T (n.*387A>T)
c.1220A>T (p.Tyr407Phe)
12g.56004589C>ACA385292068SUOXc.1200C>A (p.Tyr400Ter)
c.*388C>A (n.*388C>A)
c.1221C>A (p.Tyr407Ter)
12g.56004589C=CA2038197949SUOXc.1200C= (p.Tyr400=)
c.*388C= (n.*388C=)
c.1221C= (p.Tyr407=)
12g.56004589C>GCA6621129SUOXc.1200C>G (p.Tyr400Ter)
c.*388C>G (n.*388C>G)
c.1221C>G (p.Tyr407Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004589C>TCA480366575SUOXc.1200C>T (p.Tyr400=)
c.*388C>T (n.*388C>T)
c.1221C>T (p.Tyr407=)
12g.56004590A=CA2038197950SUOXc.1201A= (p.Lys401=)
c.*389A= (n.*389A=)
c.1222A= (p.Lys408=)
12g.56004590A>CCA385292073SUOXc.1201A>C (p.Lys401Gln)
c.*389A>C (n.*389A>C)
c.1222A>C (p.Lys408Gln)
12g.56004590A>GCA385292076SUOXc.1201A>G (p.Lys401Glu)
c.*389A>G (n.*389A>G)
c.1222A>G (p.Lys408Glu)
 ClinVar dbSNP
12g.56004590A>TCA385292078SUOXc.1201A>T (p.Lys401Ter)
c.*389A>T (n.*389A>T)
c.1222A>T (p.Lys408Ter)
12g.56004591A=CA2038197951SUOXc.1202A= (p.Lys401=)
c.*390A= (n.*390A=)
c.1223A= (p.Lys408=)
12g.56004591A>CCA385292083SUOXc.1202A>C (p.Lys401Thr)
c.*390A>C (n.*390A>C)
c.1223A>C (p.Lys408Thr)
12g.56004591A>GCA6621130SUOXc.1202A>G (p.Lys401Arg)
c.*390A>G (n.*390A>G)
c.1223A>G (p.Lys408Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004591A>TCA385292108SUOXc.1202A>T (p.Lys401Ile)
c.*390A>T (n.*390A>T)
c.1223A>T (p.Lys408Ile)
12g.56004592A>CCA385292114SUOXc.1203A>C (p.Lys401Asn)
c.*391A>C (n.*391A>C)
c.1224A>C (p.Lys408Asn)
12g.56004592A>GCA480366161SUOXc.1203A>G (p.Lys401=)
c.*391A>G (n.*391A>G)
c.1224A>G (p.Lys408=)
12g.56004592A>TCA385292115SUOXc.1203A>T (p.Lys401Asn)
c.*391A>T (n.*391A>T)
c.1224A>T (p.Lys408Asn)
12g.56004593G>ACA385292129SUOXc.1204G>A (p.Gly402Ser)
c.*392G>A (n.*392G>A)
c.1225G>A (p.Gly409Ser)
12g.56004593G>CCA385292132SUOXc.1204G>C (p.Gly402Arg)
c.*392G>C (n.*392G>C)
c.1225G>C (p.Gly409Arg)
12g.56004593G>TCA385292121SUOXc.1204G>T (p.Gly402Cys)
c.*392G>T (n.*392G>T)
c.1225G>T (p.Gly409Cys)
12g.56004594G>ACA385292136SUOXc.1205G>A (p.Gly402Asp)
c.*393G>A (n.*393G>A)
c.1226G>A (p.Gly409Asp)
 gnomAD v4
12g.56004594G>CCA385292138SUOXc.1205G>C (p.Gly402Ala)
c.*393G>C (n.*393G>C)
c.1226G>C (p.Gly409Ala)
12g.56004594G>TCA385292141SUOXc.1205G>T (p.Gly402Val)
c.*393G>T (n.*393G>T)
c.1226G>T (p.Gly409Val)
12g.56004595C>ACA480366163SUOXc.1206C>A (p.Gly402=)
c.*394C>A (n.*394C>A)
c.1227C>A (p.Gly409=)
12g.56004595C>GCA480366164SUOXc.1206C>G (p.Gly402=)
c.*394C>G (n.*394C>G)
c.1227C>G (p.Gly409=)
12g.56004595C>TCA480366165SUOXc.1206C>T (p.Gly402=)
c.*394C>T (n.*394C>T)
c.1227C>T (p.Gly409=)
12g.56004596T>ACA385292150SUOXc.1207T>A (p.Phe403Ile)
c.*395T>A (n.*395T>A)
c.1228T>A (p.Phe410Ile)
 gnomAD v4
12g.56004596T>CCA385292153SUOXc.1207T>C (p.Phe403Leu)
c.*395T>C (n.*395T>C)
c.1228T>C (p.Phe410Leu)
12g.56004596T>GCA385292155SUOXc.1207T>G (p.Phe403Val)
c.*395T>G (n.*395T>G)
c.1228T>G (p.Phe410Val)
 gnomAD v4
12g.56004597T>ACA385292173SUOXc.1208T>A (p.Phe403Tyr)
c.*396T>A (n.*396T>A)
c.1229T>A (p.Phe410Tyr)
12g.56004597T>CCA385292158SUOXc.1208T>C (p.Phe403Ser)
c.*396T>C (n.*396T>C)
c.1229T>C (p.Phe410Ser)
12g.56004597T>GCA385292169SUOXc.1208T>G (p.Phe403Cys)
c.*396T>G (n.*396T>G)
c.1229T>G (p.Phe410Cys)
12g.56004598C>ACA385292181SUOXc.1209C>A (p.Phe403Leu)
c.*397C>A (n.*397C>A)
c.1230C>A (p.Phe410Leu)
12g.56004598C=CA2038197952SUOXc.1209C= (p.Phe403=)
c.*397C= (n.*397C=)
c.1230C= (p.Phe410=)
12g.56004598C>GCA385292185SUOXc.1209C>G (p.Phe403Leu)
c.*397C>G (n.*397C>G)
c.1230C>G (p.Phe410Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.56004598C>TCA480366167SUOXc.1209C>T (p.Phe403=)
c.*397C>T (n.*397C>T)
c.1230C>T (p.Phe410=)
12g.56004599T>ACA385292190SUOXc.1210T>A (p.Ser404Thr)
c.*398T>A (n.*398T>A)
c.1231T>A (p.Ser411Thr)
12g.56004599T>CCA385292193SUOXc.1210T>C (p.Ser404Pro)
c.*398T>C (n.*398T>C)
c.1231T>C (p.Ser411Pro)
 ClinVar dbSNP
12g.56004599T>GCA385292196SUOXc.1210T>G (p.Ser404Ala)
c.*398T>G (n.*398T>G)
c.1231T>G (p.Ser411Ala)
12g.56004600C>ACA385292200SUOXc.1211C>A (p.Ser404Tyr)
c.*399C>A (n.*399C>A)
c.1232C>A (p.Ser411Tyr)
12g.56004600C=CA2038197953SUOXc.1211C= (p.Ser404=)
c.*399C= (n.*399C=)
c.1232C= (p.Ser411=)
12g.56004600C>GCA6621131SUOXc.1211C>G (p.Ser404Cys)
c.*399C>G (n.*399C>G)
c.1232C>G (p.Ser411Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004600C>TCA385292208SUOXc.1211C>T (p.Ser404Phe)
c.*399C>T (n.*399C>T)
c.1232C>T (p.Ser411Phe)
 gnomAD v4
12g.56004601T>ACA480366172SUOXc.1212T>A (p.Ser404=)
c.*400T>A (n.*400T>A)
c.1233T>A (p.Ser411=)
12g.56004601T>CCA480366173SUOXc.1212T>C (p.Ser404=)
c.*400T>C (n.*400T>C)
c.1233T>C (p.Ser411=)
 gnomAD v4
12g.56004601T>GCA480366174SUOXc.1212T>G (p.Ser404=)
c.*400T>G (n.*400T>G)
c.1233T>G (p.Ser411=)
12g.56004602C>ACA385292214SUOXc.1213C>A (p.Pro405Thr)
c.*401C>A (n.*401C>A)
c.1234C>A (p.Pro412Thr)
12g.56004602C>GCA385292217SUOXc.1213C>G (p.Pro405Ala)
c.*401C>G (n.*401C>G)
c.1234C>G (p.Pro412Ala)
12g.56004602C>TCA385292225SUOXc.1213C>T (p.Pro405Ser)
c.*401C>T (n.*401C>T)
c.1234C>T (p.Pro412Ser)
12g.56004603C>ACA385292240SUOXc.1214C>A (p.Pro405Gln)
c.*402C>A (n.*402C>A)
c.1235C>A (p.Pro412Gln)
12g.56004603C>GCA385292244SUOXc.1214C>G (p.Pro405Arg)
c.*402C>G (n.*402C>G)
c.1235C>G (p.Pro412Arg)
12g.56004603C>TCA385292253SUOXc.1214C>T (p.Pro405Leu)
c.*402C>T (n.*402C>T)
c.1235C>T (p.Pro412Leu)
12g.56004604A>CCA480366180SUOXc.1215A>C (p.Pro405=)
c.*403A>C (n.*403A>C)
c.1236A>C (p.Pro412=)
12g.56004604A>GCA480366179SUOXc.1215A>G (p.Pro405=)
c.*403A>G (n.*403A>G)
c.1236A>G (p.Pro412=)
 gnomAD v4
12g.56004604A>TCA480366178SUOXc.1215A>T (p.Pro405=)
c.*403A>T (n.*403A>T)
c.1236A>T (p.Pro412=)
12g.56004605T>ACA385292259SUOXc.1216T>A (p.Ser406Thr)
c.*404T>A (n.*404T>A)
c.1237T>A (p.Ser413Thr)
12g.56004605T>CCA385292261SUOXc.1216T>C (p.Ser406Pro)
c.*404T>C (n.*404T>C)
c.1237T>C (p.Ser413Pro)
 dbSNP gnomAD v3 gnomAD v4
12g.56004605T>GCA385292262SUOXc.1216T>G (p.Ser406Ala)
c.*404T>G (n.*404T>G)
c.1237T>G (p.Ser413Ala)
12g.56004605T=CA2038197954SUOXc.1216T= (p.Ser406=)
c.*404T= (n.*404T=)
c.1237T= (p.Ser413=)
12g.56004606C>ACA385292267SUOXc.1217C>A (p.Ser406Tyr)
c.*405C>A (n.*405C>A)
c.1238C>A (p.Ser413Tyr)
12g.56004606C>GCA385292269SUOXc.1217C>G (p.Ser406Cys)
c.*405C>G (n.*405C>G)
c.1238C>G (p.Ser413Cys)
12g.56004606C>TCA385292272SUOXc.1217C>T (p.Ser406Phe)
c.*405C>T (n.*405C>T)
c.1238C>T (p.Ser413Phe)
 gnomAD v4
12g.56004607T>ACA480366182SUOXc.1218T>A (p.Ser406=)
c.*406T>A (n.*406T>A)
c.1239T>A (p.Ser413=)
12g.56004607T>CCA480366183SUOXc.1218T>C (p.Ser406=)
c.*406T>C (n.*406T>C)
c.1239T>C (p.Ser413=)
 ClinVar gnomAD v4
12g.56004607T>GCA480366184SUOXc.1218T>G (p.Ser406=)
c.*406T>G (n.*406T>G)
c.1239T>G (p.Ser413=)
12g.56004608G>ACA385292286SUOXc.1219G>A (p.Val407Met)
c.*407G>A (n.*407G>A)
c.1240G>A (p.Val414Met)
12g.56004608G>CCA385292281SUOXc.1219G>C (p.Val407Leu)
c.*407G>C (n.*407G>C)
c.1240G>C (p.Val414Leu)
12g.56004608G>TCA385292277SUOXc.1219G>T (p.Val407Leu)
c.*407G>T (n.*407G>T)
c.1240G>T (p.Val414Leu)
12g.56004609T>ACA385292299SUOXc.1220T>A (p.Val407Glu)
c.*408T>A (n.*408T>A)
c.1241T>A (p.Val414Glu)
12g.56004609T>CCA385292294SUOXc.1220T>C (p.Val407Ala)
c.*408T>C (n.*408T>C)
c.1241T>C (p.Val414Ala)
12g.56004609T>GCA385292296SUOXc.1220T>G (p.Val407Gly)
c.*408T>G (n.*408T>G)
c.1241T>G (p.Val414Gly)
12g.56004610G>ACA480366188SUOXc.1221G>A (p.Val407=)
c.*409G>A (n.*409G>A)
c.1242G>A (p.Val414=)
 gnomAD v4 COSMIC
12g.56004610G>CCA480366190SUOXc.1221G>C (p.Val407=)
c.*409G>C (n.*409G>C)
c.1242G>C (p.Val414=)
12g.56004610G>TCA480366189SUOXc.1221G>T (p.Val407=)
c.*409G>T (n.*409G>T)
c.1242G>T (p.Val414=)
12g.56004611G>ACA385292303SUOXc.1222G>A (p.Asp408Asn)
c.*410G>A (n.*410G>A)
c.1243G>A (p.Asp415Asn)
 gnomAD v4
12g.56004611G>CCA385292310SUOXc.1222G>C (p.Asp408His)
c.*410G>C (n.*410G>C)
c.1243G>C (p.Asp415His)
 gnomAD v4
12g.56004611G>TCA385292313SUOXc.1222G>T (p.Asp408Tyr)
c.*410G>T (n.*410G>T)
c.1243G>T (p.Asp415Tyr)
12g.56004612A>CCA385292316SUOXc.1223A>C (p.Asp408Ala)
c.*411A>C (n.*411A>C)
c.1244A>C (p.Asp415Ala)
12g.56004612A>GCA385292319SUOXc.1223A>G (p.Asp408Gly)
c.*411A>G (n.*411A>G)
c.1244A>G (p.Asp415Gly)
12g.56004612A>TCA385292322SUOXc.1223A>T (p.Asp408Val)
c.*411A>T (n.*411A>T)
c.1244A>T (p.Asp415Val)
 gnomAD v4
12g.56004613C>ACA385292328SUOXc.1224C>A (p.Asp408Glu)
c.*412C>A (n.*412C>A)
c.1245C>A (p.Asp415Glu)
12g.56004613C>GCA385292333SUOXc.1224C>G (p.Asp408Glu)
c.*412C>G (n.*412C>G)
c.1245C>G (p.Asp415Glu)
12g.56004613C>TCA480366195SUOXc.1224C>T (p.Asp408=)
c.*412C>T (n.*412C>T)
c.1245C>T (p.Asp415=)
 ClinVar
12g.56004614T>ACA385292342SUOXc.1225T>A (p.Trp409Arg)
c.*413T>A (n.*413T>A)
c.1246T>A (p.Trp416Arg)
12g.56004614T>CCA385292346SUOXc.1225T>C (p.Trp409Arg)
c.*413T>C (n.*413T>C)
c.1246T>C (p.Trp416Arg)
 gnomAD v4
12g.56004614T>GCA385292355SUOXc.1225T>G (p.Trp409Gly)
c.*413T>G (n.*413T>G)
c.1246T>G (p.Trp416Gly)
12g.56004615G>ACA6621132SUOXc.1226G>A (p.Trp409Ter)
c.*414G>A (n.*414G>A)
c.1247G>A (p.Trp416Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004615G>CCA385292362SUOXc.1226G>C (p.Trp409Ser)
c.*414G>C (n.*414G>C)
c.1247G>C (p.Trp416Ser)
12g.56004615G=CA2038197955SUOXc.1226G= (p.Trp409=)
c.*414G= (n.*414G=)
c.1247G= (p.Trp416=)
12g.56004615G>TCA385292358SUOXc.1226G>T (p.Trp409Leu)
c.*414G>T (n.*414G>T)
c.1247G>T (p.Trp416Leu)
12g.56004616G>ACA385292366SUOXc.1227G>A (p.Trp409Ter)
c.*415G>A (n.*415G>A)
c.1248G>A (p.Trp416Ter)
12g.56004616G>CCA385292367SUOXc.1227G>C (p.Trp409Cys)
c.*415G>C (n.*415G>C)
c.1248G>C (p.Trp416Cys)
12g.56004616G>TCA385292395SUOXc.1227G>T (p.Trp409Cys)
c.*415G>T (n.*415G>T)
c.1248G>T (p.Trp416Cys)
12g.56004617G>ACA6621133SUOXc.1228G>A (p.Glu410Lys)
c.*416G>A (n.*416G>A)
c.1249G>A (p.Glu417Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004617G>CCA385292400SUOXc.1228G>C (p.Glu410Gln)
c.*416G>C (n.*416G>C)
c.1249G>C (p.Glu417Gln)
12g.56004617G=CA2038197956SUOXc.1228G= (p.Glu410=)
c.*416G= (n.*416G=)
c.1249G= (p.Glu417=)
12g.56004617G>TCA385292401SUOXc.1228G>T (p.Glu410Ter)
c.*416G>T (n.*416G>T)
c.1249G>T (p.Glu417Ter)

Number of alleles fetched