Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
12g.56004500G>ACA385291091SUOXc.1111G>A (p.Gly371Arg)
c.*299G>A (n.*299G>A)
c.1132G>A (p.Gly378Arg)
12g.56004500G>CCA385291094SUOXc.1111G>C (p.Gly371Arg)
c.*299G>C (n.*299G>C)
c.1132G>C (p.Gly378Arg)
12g.56004500G>TCA385291096SUOXc.1111G>T (p.Gly371Ter)
c.*299G>T (n.*299G>T)
c.1132G>T (p.Gly378Ter)
12g.56004501G>ACA385291108SUOXc.1112G>A (p.Gly371Glu)
c.*300G>A (n.*300G>A)
c.1133G>A (p.Gly378Glu)
 gnomAD v4
12g.56004501G>CCA385291102SUOXc.1112G>C (p.Gly371Ala)
c.*300G>C (n.*300G>C)
c.1133G>C (p.Gly378Ala)
12g.56004501G>TCA385291100SUOXc.1112G>T (p.Gly371Val)
c.*300G>T (n.*300G>T)
c.1133G>T (p.Gly378Val)
12g.56004501_56004502delinsGACA2038197902SUOXc.1112_1113delinsGA (p.Gly371=)
c.*300_*301delinsGA (n.*300_*301delinsGA)
c.1133_1134delinsGA (p.Gly378=)
12g.56004502delCA2038197903SUOXc.1113del (p.Val372TrpfsTer13)
c.*301del (n.*301del)
c.1134del (p.Val379TrpfsTer13)
 dbSNP
12g.56004502A=CA2038197904SUOXc.1113A= (p.Gly371=)
c.*301A= (n.*301A=)
c.1134A= (p.Gly378=)
12g.56004502A>CCA480366444SUOXc.1113A>C (p.Gly371=)
c.*301A>C (n.*301A>C)
c.1134A>C (p.Gly378=)
12g.56004502A>GCA480366445SUOXc.1113A>G (p.Gly371=)
c.*301A>G (n.*301A>G)
c.1134A>G (p.Gly378=)
 dbSNP
12g.56004502A>TCA480366443SUOXc.1113A>T (p.Gly371=)
c.*301A>T (n.*301A>T)
c.1134A>T (p.Gly378=)
12g.56004503G>ACA385291110SUOXc.1114G>A (p.Val372Met)
c.*302G>A (n.*302G>A)
c.1135G>A (p.Val379Met)
 dbSNP gnomAD v2 gnomAD v4
12g.56004503G>CCA385291112SUOXc.1114G>C (p.Val372Leu)
c.*302G>C (n.*302G>C)
c.1135G>C (p.Val379Leu)
12g.56004503G=CA2038197905SUOXc.1114G= (p.Val372=)
c.*302G= (n.*302G=)
c.1135G= (p.Val379=)
12g.56004503G>TCA385291114SUOXc.1114G>T (p.Val372Leu)
c.*302G>T (n.*302G>T)
c.1135G>T (p.Val379Leu)
12g.56004504T>ACA385291117SUOXc.1115T>A (p.Val372Glu)
c.*303T>A (n.*303T>A)
c.1136T>A (p.Val379Glu)
12g.56004504T>CCA6621098SUOXc.1115T>C (p.Val372Ala)
c.*303T>C (n.*303T>C)
c.1136T>C (p.Val379Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004504T>GCA385291125SUOXc.1115T>G (p.Val372Gly)
c.*303T>G (n.*303T>G)
c.1136T>G (p.Val379Gly)
12g.56004504T=CA2038197906SUOXc.1115T= (p.Val372=)
c.*303T= (n.*303T=)
c.1136T= (p.Val379=)
12g.56004505G>ACA480366450SUOXc.1116G>A (p.Val372=)
c.*304G>A (n.*304G>A)
c.1137G>A (p.Val379=)
 dbSNP gnomAD v3 gnomAD v4
12g.56004505G>CCA480366451SUOXc.1116G>C (p.Val372=)
c.*304G>C (n.*304G>C)
c.1137G>C (p.Val379=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.56004505G=CA2038197907SUOXc.1116G= (p.Val372=)
c.*304G= (n.*304G=)
c.1137G= (p.Val379=)
12g.56004505G>TCA480366452SUOXc.1116G>T (p.Val372=)
c.*304G>T (n.*304G>T)
c.1137G>T (p.Val379=)
12g.56004506_56004507insGGGGGCA919094430SUOXc.1117_1118insGGGGG (p.Val373GlyfsTer14)
c.*305_*306insGGGGG (n.*305_*306insGGGGG)
c.1138_1139insGGGGG (p.Val380GlyfsTer14)
 dbSNP
12g.56004506G>ACA385291128SUOXc.1117G>A (p.Val373Met)
c.*305G>A (n.*305G>A)
c.1138G>A (p.Val380Met)
12g.56004506G>CCA385291130SUOXc.1117G>C (p.Val373Leu)
c.*305G>C (n.*305G>C)
c.1138G>C (p.Val380Leu)
12g.56004506G>TCA385291133SUOXc.1117G>T (p.Val373Leu)
c.*305G>T (n.*305G>T)
c.1138G>T (p.Val380Leu)
12g.56004507T>ACA385291137SUOXc.1118T>A (p.Val373Glu)
c.*306T>A (n.*306T>A)
c.1139T>A (p.Val380Glu)
12g.56004507T>CCA6621099SUOXc.1118T>C (p.Val373Ala)
c.*306T>C (n.*306T>C)
c.1139T>C (p.Val380Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004507T>GCA385291141SUOXc.1118T>G (p.Val373Gly)
c.*306T>G (n.*306T>G)
c.1139T>G (p.Val380Gly)
 dbSNP
12g.56004507T=CA2038197909SUOXc.1118T= (p.Val373=)
c.*306T= (n.*306T=)
c.1139T= (p.Val380=)
12g.56004507_56004508delinsTGCA2038197908SUOXc.1118_1119delinsTG (p.Val373=)
c.*306_*307delinsTG (n.*306_*307delinsTG)
c.1139_1140delinsTG (p.Val380=)
12g.56004508G>ACA6621100SUOXc.1119G>A (p.Val373=)
c.*307G>A (n.*307G>A)
c.1140G>A (p.Val380=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004508G>CCA480366455SUOXc.1119G>C (p.Val373=)
c.*307G>C (n.*307G>C)
c.1140G>C (p.Val380=)
12g.56004508G=CA2038197910SUOXc.1119G= (p.Val373=)
c.*307G= (n.*307G=)
c.1140G= (p.Val380=)
12g.56004508G>TCA480366457SUOXc.1119G>T (p.Val373=)
c.*307G>T (n.*307G>T)
c.1140G>T (p.Val380=)
12g.56004510dupCA605401137SUOXc.1121dup (p.Ala375CysfsTer?)
c.*309dup (n.*309dup)
c.1142dup (p.Ala382CysfsTer?)
 gnomAD v2 COSMIC
12g.56004510delCA237605269SUOXc.1121del (p.Gly374ValfsTer11)
c.*309del (n.*309del)
c.1142del (p.Gly381ValfsTer11)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004509G>ACA385291155SUOXc.1120G>A (p.Gly374Ser)
c.*308G>A (n.*308G>A)
c.1141G>A (p.Gly381Ser)
12g.56004509G>CCA385291152SUOXc.1120G>C (p.Gly374Arg)
c.*308G>C (n.*308G>C)
c.1141G>C (p.Gly381Arg)
12g.56004509G>TCA385291148SUOXc.1120G>T (p.Gly374Cys)
c.*308G>T (n.*308G>T)
c.1141G>T (p.Gly381Cys)
12g.56004510G>ACA385291159SUOXc.1121G>A (p.Gly374Asp)
c.*309G>A (n.*309G>A)
c.1142G>A (p.Gly381Asp)
12g.56004510G>CCA385291162SUOXc.1121G>C (p.Gly374Ala)
c.*309G>C (n.*309G>C)
c.1142G>C (p.Gly381Ala)
 gnomAD v4
12g.56004510G>TCA385291164SUOXc.1121G>T (p.Gly374Val)
c.*309G>T (n.*309G>T)
c.1142G>T (p.Gly381Val)
12g.56004511T>ACA480366458SUOXc.1122T>A (p.Gly374=)
c.*310T>A (n.*310T>A)
c.1143T>A (p.Gly381=)
12g.56004511T>CCA480366460SUOXc.1122T>C (p.Gly374=)
c.*310T>C (n.*310T>C)
c.1143T>C (p.Gly381=)
12g.56004511T>GCA6621101SUOXc.1122T>G (p.Gly374=)
c.*310T>G (n.*310T>G)
c.1143T>G (p.Gly381=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004511T=CA2038197911SUOXc.1122T= (p.Gly374=)
c.*310T= (n.*310T=)
c.1143T= (p.Gly381=)
12g.56004512G>ACA385291171SUOXc.1123G>A (p.Ala375Thr)
c.*311G>A (n.*311G>A)
c.1144G>A (p.Ala382Thr)
12g.56004512G>CCA385291173SUOXc.1123G>C (p.Ala375Pro)
c.*311G>C (n.*311G>C)
c.1144G>C (p.Ala382Pro)
 dbSNP gnomAD v4
12g.56004512G=CA2038197912SUOXc.1123G= (p.Ala375=)
c.*311G= (n.*311G=)
c.1144G= (p.Ala382=)
12g.56004512G>TCA385291177SUOXc.1123G>T (p.Ala375Ser)
c.*311G>T (n.*311G>T)
c.1144G>T (p.Ala382Ser)
12g.56004513C>ACA6621103SUOXc.1124C>A (p.Ala375Asp)
c.*312C>A (n.*312C>A)
c.1145C>A (p.Ala382Asp)
 ClinVar dbSNP ExAC gnomAD v2
12g.56004513C=CA2038197913SUOXc.1124C= (p.Ala375=)
c.*312C= (n.*312C=)
c.1145C= (p.Ala382=)
12g.56004513C>GCA6621102SUOXc.1124C>G (p.Ala375Gly)
c.*312C>G (n.*312C>G)
c.1145C>G (p.Ala382Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004513C>TCA385291186SUOXc.1124C>T (p.Ala375Val)
c.*312C>T (n.*312C>T)
c.1145C>T (p.Ala382Val)
12g.56004514C>ACA480366466SUOXc.1125C>A (p.Ala375=)
c.*313C>A (n.*313C>A)
c.1146C>A (p.Ala382=)
12g.56004514C=CA2038197914SUOXc.1125C= (p.Ala375=)
c.*313C= (n.*313C=)
c.1146C= (p.Ala382=)
12g.56004514C>GCA6621104SUOXc.1125C>G (p.Ala375=)
c.*313C>G (n.*313C>G)
c.1146C>G (p.Ala382=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004514C>TCA480366467SUOXc.1125C>T (p.Ala375=)
c.*313C>T (n.*313C>T)
c.1146C>T (p.Ala382=)
12g.56004515C>ACA6621105SUOXc.1126C>A (p.Arg376Ser)
c.*314C>A (n.*314C>A)
c.1147C>A (p.Arg383Ser)
 dbSNP ExAC
12g.56004515C=CA2038197915SUOXc.1126C= (p.Arg376=)
c.*314C= (n.*314C=)
c.1147C= (p.Arg383=)
12g.56004515C>GCA385291195SUOXc.1126C>G (p.Arg376Gly)
c.*314C>G (n.*314C>G)
c.1147C>G (p.Arg383Gly)
12g.56004515C>TCA237605274SUOXc.1126C>T (p.Arg376Cys)
c.*314C>T (n.*314C>T)
c.1147C>T (p.Arg383Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004516G>ACA385291207SUOXc.1127G>A (p.Arg376His)
c.*315G>A (n.*315G>A)
c.1148G>A (p.Arg383His)
 ClinVar dbSNP gnomAD v4 COSMIC
12g.56004516G>CCA6621106SUOXc.1127G>C (p.Arg376Pro)
c.*315G>C (n.*315G>C)
c.1148G>C (p.Arg383Pro)
 dbSNP ExAC gnomAD v4
12g.56004516G=CA2038197916SUOXc.1127G= (p.Arg376=)
c.*315G= (n.*315G=)
c.1148G= (p.Arg383=)
12g.56004516G>TCA6621107SUOXc.1127G>T (p.Arg376Leu)
c.*315G>T (n.*315G>T)
c.1148G>T (p.Arg383Leu)
 dbSNP ExAC
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)

Number of alleles fetched