Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
12g.56004618A>CCA385292405SUOXc.1229A>C (p.Glu410Ala)
c.*417A>C (n.*417A>C)
c.1250A>C (p.Glu417Ala)
12g.56004618A>GCA385292406SUOXc.1229A>G (p.Glu410Gly)
c.*417A>G (n.*417A>G)
c.1250A>G (p.Glu417Gly)
12g.56004618A>TCA385292407SUOXc.1229A>T (p.Glu410Val)
c.*417A>T (n.*417A>T)
c.1250A>T (p.Glu417Val)
12g.56004619G>ACA480366204SUOXc.1230G>A (p.Glu410=)
c.*418G>A (n.*418G>A)
c.1251G>A (p.Glu417=)
12g.56004619G>CCA6621134SUOXc.1230G>C (p.Glu410Asp)
c.*418G>C (n.*418G>C)
c.1251G>C (p.Glu417Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004619G=CA2038197957SUOXc.1230G= (p.Glu410=)
c.*418G= (n.*418G=)
c.1251G= (p.Glu417=)
12g.56004619G>TCA385292416SUOXc.1230G>T (p.Glu410Asp)
c.*418G>T (n.*418G>T)
c.1251G>T (p.Glu417Asp)
12g.56004620A>CCA385292432SUOXc.1231A>C (p.Thr411Pro)
c.*419A>C (n.*419A>C)
c.1252A>C (p.Thr418Pro)
12g.56004620A>GCA385292440SUOXc.1231A>G (p.Thr411Ala)
c.*419A>G (n.*419A>G)
c.1252A>G (p.Thr418Ala)
 gnomAD v4
12g.56004620A>TCA385292447SUOXc.1231A>T (p.Thr411Ser)
c.*419A>T (n.*419A>T)
c.1252A>T (p.Thr418Ser)
12g.56004621C>ACA385292459SUOXc.1232C>A (p.Thr411Asn)
c.*420C>A (n.*420C>A)
c.1253C>A (p.Thr418Asn)
12g.56004621C>GCA385292462SUOXc.1232C>G (p.Thr411Ser)
c.*420C>G (n.*420C>G)
c.1253C>G (p.Thr418Ser)
12g.56004621C>TCA385292458SUOXc.1232C>T (p.Thr411Ile)
c.*420C>T (n.*420C>T)
c.1253C>T (p.Thr418Ile)
12g.56004622T>ACA480366209SUOXc.1233T>A (p.Thr411=)
c.*421T>A (n.*421T>A)
c.1254T>A (p.Thr418=)
12g.56004622T>CCA480366211SUOXc.1233T>C (p.Thr411=)
c.*421T>C (n.*421T>C)
c.1254T>C (p.Thr418=)
12g.56004622T>GCA480366212SUOXc.1233T>G (p.Thr411=)
c.*421T>G (n.*421T>G)
c.1254T>G (p.Thr418=)
12g.56004623_56004624delCA2523469075SUOXc.1234_1235del (p.Val412ArgfsTer3)
c.*422_*423del (n.*422_*423del)
c.1255_1256del (p.Val419ArgfsTer3)
 gnomAD v4
12g.56004623G>ACA237605303SUOXc.1234G>A (p.Val412Ile)
c.*422G>A (n.*422G>A)
c.1255G>A (p.Val419Ile)
 dbSNP gnomAD v3 gnomAD v4
12g.56004623G>CCA385292468SUOXc.1234G>C (p.Val412Leu)
c.*422G>C (n.*422G>C)
c.1255G>C (p.Val419Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.56004623G=CA2038197958SUOXc.1234G= (p.Val412=)
c.*422G= (n.*422G=)
c.1255G= (p.Val419=)
12g.56004623G>TCA385292476SUOXc.1234G>T (p.Val412Leu)
c.*422G>T (n.*422G>T)
c.1255G>T (p.Val419Leu)
12g.56004624T>ACA385292480SUOXc.1235T>A (p.Val412Glu)
c.*423T>A (n.*423T>A)
c.1256T>A (p.Val419Glu)
12g.56004624T>CCA385292484SUOXc.1235T>C (p.Val412Ala)
c.*423T>C (n.*423T>C)
c.1256T>C (p.Val419Ala)
12g.56004624T>GCA385292487SUOXc.1235T>G (p.Val412Gly)
c.*423T>G (n.*423T>G)
c.1256T>G (p.Val419Gly)
 gnomAD v4
12g.56004625A>CCA480366215SUOXc.1236A>C (p.Val412=)
c.*424A>C (n.*424A>C)
c.1257A>C (p.Val419=)
12g.56004625A>GCA480366213SUOXc.1236A>G (p.Val412=)
c.*424A>G (n.*424A>G)
c.1257A>G (p.Val419=)
12g.56004625A>TCA480366214SUOXc.1236A>T (p.Val412=)
c.*424A>T (n.*424A>T)
c.1257A>T (p.Val419=)
12g.56004626G>ACA385292491SUOXc.1237G>A (p.Asp413Asn)
c.*425G>A (n.*425G>A)
c.1258G>A (p.Asp420Asn)
 gnomAD v4
12g.56004626G>CCA385292488SUOXc.1237G>C (p.Asp413His)
c.*425G>C (n.*425G>C)
c.1258G>C (p.Asp420His)
 gnomAD v4
12g.56004626G>TCA385292490SUOXc.1237G>T (p.Asp413Tyr)
c.*425G>T (n.*425G>T)
c.1258G>T (p.Asp420Tyr)
12g.56004627A>CCA385292494SUOXc.1238A>C (p.Asp413Ala)
c.*426A>C (n.*426A>C)
c.1259A>C (p.Asp420Ala)
12g.56004627A>GCA385292498SUOXc.1238A>G (p.Asp413Gly)
c.*426A>G (n.*426A>G)
c.1259A>G (p.Asp420Gly)
 gnomAD v4
12g.56004627A>TCA385292501SUOXc.1238A>T (p.Asp413Val)
c.*426A>T (n.*426A>T)
c.1259A>T (p.Asp420Val)
12g.56004628T>ACA385292504SUOXc.1239T>A (p.Asp413Glu)
c.*427T>A (n.*427T>A)
c.1260T>A (p.Asp420Glu)
12g.56004628T>CCA480366220SUOXc.1239T>C (p.Asp413=)
c.*427T>C (n.*427T>C)
c.1260T>C (p.Asp420=)
12g.56004628T>GCA385292506SUOXc.1239T>G (p.Asp413Glu)
c.*427T>G (n.*427T>G)
c.1260T>G (p.Asp420Glu)
 gnomAD v4
12g.56004629T>ACA385292508SUOXc.1240T>A (p.Phe414Ile)
c.*428T>A (n.*428T>A)
c.1261T>A (p.Phe421Ile)
12g.56004629T>CCA385292513SUOXc.1240T>C (p.Phe414Leu)
c.*428T>C (n.*428T>C)
c.1261T>C (p.Phe421Leu)
12g.56004629T>GCA385292511SUOXc.1240T>G (p.Phe414Val)
c.*428T>G (n.*428T>G)
c.1261T>G (p.Phe421Val)
12g.56004630T>ACA385292516SUOXc.1241T>A (p.Phe414Tyr)
c.*429T>A (n.*429T>A)
c.1262T>A (p.Phe421Tyr)
12g.56004630T>CCA385292517SUOXc.1241T>C (p.Phe414Ser)
c.*429T>C (n.*429T>C)
c.1262T>C (p.Phe421Ser)
12g.56004630T>GCA385292518SUOXc.1241T>G (p.Phe414Cys)
c.*429T>G (n.*429T>G)
c.1262T>G (p.Phe421Cys)
12g.56004631T>ACA385292519SUOXc.1242T>A (p.Phe414Leu)
c.*430T>A (n.*430T>A)
c.1263T>A (p.Phe421Leu)
12g.56004631T>CCA480366227SUOXc.1242T>C (p.Phe414=)
c.*430T>C (n.*430T>C)
c.1263T>C (p.Phe421=)
12g.56004631T>GCA385292521SUOXc.1242T>G (p.Phe414Leu)
c.*430T>G (n.*430T>G)
c.1263T>G (p.Phe421Leu)
12g.56004632G>ACA385292528SUOXc.1243G>A (p.Asp415Asn)
c.*431G>A (n.*431G>A)
c.1264G>A (p.Asp422Asn)
 ClinVar dbSNP
12g.56004632G>CCA385292531SUOXc.1243G>C (p.Asp415His)
c.*431G>C (n.*431G>C)
c.1264G>C (p.Asp422His)
12g.56004632G=CA2038197959SUOXc.1243G= (p.Asp415=)
c.*431G= (n.*431G=)
c.1264G= (p.Asp422=)
12g.56004632G>TCA385292532SUOXc.1243G>T (p.Asp415Tyr)
c.*431G>T (n.*431G>T)
c.1264G>T (p.Asp422Tyr)
12g.56004633A=CA2038197960SUOXc.1244A= (p.Asp415=)
c.*432A= (n.*432A=)
c.1265A= (p.Asp422=)
12g.56004633A>CCA385292533SUOXc.1244A>C (p.Asp415Ala)
c.*432A>C (n.*432A>C)
c.1265A>C (p.Asp422Ala)
 dbSNP
12g.56004633A>GCA385292536SUOXc.1244A>G (p.Asp415Gly)
c.*432A>G (n.*432A>G)
c.1265A>G (p.Asp422Gly)
12g.56004633A>TCA385292543SUOXc.1244A>T (p.Asp415Val)
c.*432A>T (n.*432A>T)
c.1265A>T (p.Asp422Val)
 gnomAD v4
12g.56004634C>ACA385292552SUOXc.1245C>A (p.Asp415Glu)
c.*433C>A (n.*433C>A)
c.1266C>A (p.Asp422Glu)
12g.56004634C=CA2038197961SUOXc.1245C= (p.Asp415=)
c.*433C= (n.*433C=)
c.1266C= (p.Asp422=)
12g.56004634C>GCA385292549SUOXc.1245C>G (p.Asp415Glu)
c.*433C>G (n.*433C>G)
c.1266C>G (p.Asp422Glu)
12g.56004634C>TCA6621135SUOXc.1245C>T (p.Asp415=)
c.*433C>T (n.*433C>T)
c.1266C>T (p.Asp422=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004635T>ACA385292556SUOXc.1246T>A (p.Ser416Thr)
c.*434T>A (n.*434T>A)
c.1267T>A (p.Ser423Thr)
12g.56004635T>CCA385292560SUOXc.1246T>C (p.Ser416Pro)
c.*434T>C (n.*434T>C)
c.1267T>C (p.Ser423Pro)
 dbSNP
12g.56004635T>GCA385292559SUOXc.1246T>G (p.Ser416Ala)
c.*434T>G (n.*434T>G)
c.1267T>G (p.Ser423Ala)
12g.56004635T=CA2038197962SUOXc.1246T= (p.Ser416=)
c.*434T= (n.*434T=)
c.1267T= (p.Ser423=)
12g.56004636C>ACA385292561SUOXc.1247C>A (p.Ser416Tyr)
c.*435C>A (n.*435C>A)
c.1268C>A (p.Ser423Tyr)
12g.56004636C=CA2038197963SUOXc.1247C= (p.Ser416=)
c.*435C= (n.*435C=)
c.1268C= (p.Ser423=)
12g.56004636C>GCA385292563SUOXc.1247C>G (p.Ser416Cys)
c.*435C>G (n.*435C>G)
c.1268C>G (p.Ser423Cys)
12g.56004636C>TCA10642061SUOXc.1247C>T (p.Ser416Phe)
c.*435C>T (n.*435C>T)
c.1268C>T (p.Ser423Phe)
 ClinVar dbSNP
12g.56004637T>ACA480366233SUOXc.1248T>A (p.Ser416=)
c.*436T>A (n.*436T>A)
c.1269T>A (p.Ser423=)
12g.56004637T>CCA6621136SUOXc.1248T>C (p.Ser416=)
c.*436T>C (n.*436T>C)
c.1269T>C (p.Ser423=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004637T>GCA480366234SUOXc.1248T>G (p.Ser416=)
c.*436T>G (n.*436T>G)
c.1269T>G (p.Ser423=)
12g.56004637T=CA2038197964SUOXc.1248T= (p.Ser416=)
c.*436T= (n.*436T=)
c.1269T= (p.Ser423=)
12g.56004638G>ACA385292571SUOXc.1249G>A (p.Ala417Thr)
c.*437G>A (n.*437G>A)
c.1270G>A (p.Ala424Thr)
 gnomAD v4
12g.56004638G>CCA385292577SUOXc.1249G>C (p.Ala417Pro)
c.*437G>C (n.*437G>C)
c.1270G>C (p.Ala424Pro)
12g.56004638G>TCA385292579SUOXc.1249G>T (p.Ala417Ser)
c.*437G>T (n.*437G>T)
c.1270G>T (p.Ala424Ser)
 gnomAD v4
12g.56004639C>ACA385292583SUOXc.1250C>A (p.Ala417Asp)
c.*438C>A (n.*438C>A)
c.1271C>A (p.Ala424Asp)
12g.56004639C>GCA385292587SUOXc.1250C>G (p.Ala417Gly)
c.*438C>G (n.*438C>G)
c.1271C>G (p.Ala424Gly)
12g.56004639C>TCA385292591SUOXc.1250C>T (p.Ala417Val)
c.*438C>T (n.*438C>T)
c.1271C>T (p.Ala424Val)
12g.56004640T>ACA480366238SUOXc.1251T>A (p.Ala417=)
c.*439T>A (n.*439T>A)
c.1272T>A (p.Ala424=)
12g.56004640T>CCA480366239SUOXc.1251T>C (p.Ala417=)
c.*439T>C (n.*439T>C)
c.1272T>C (p.Ala424=)
12g.56004640T>GCA480366240SUOXc.1251T>G (p.Ala417=)
c.*439T>G (n.*439T>G)
c.1272T>G (p.Ala424=)
12g.56004641C>ACA385292594SUOXc.1252C>A (p.Pro418Thr)
c.*440C>A (n.*440C>A)
c.1273C>A (p.Pro425Thr)
12g.56004641C>GCA385292595SUOXc.1252C>G (p.Pro418Ala)
c.*440C>G (n.*440C>G)
c.1273C>G (p.Pro425Ala)
12g.56004641C>TCA385292596SUOXc.1252C>T (p.Pro418Ser)
c.*440C>T (n.*440C>T)
c.1273C>T (p.Pro425Ser)
12g.56004642C>ACA385292604SUOXc.1253C>A (p.Pro418Gln)
c.*441C>A (n.*441C>A)
c.1274C>A (p.Pro425Gln)
12g.56004642C>GCA385292598SUOXc.1253C>G (p.Pro418Arg)
c.*441C>G (n.*441C>G)
c.1274C>G (p.Pro425Arg)
12g.56004642C>TCA385292601SUOXc.1253C>T (p.Pro418Leu)
c.*441C>T (n.*441C>T)
c.1274C>T (p.Pro425Leu)
 gnomAD v4
12g.56004643A>CCA480366244SUOXc.1254A>C (p.Pro418=)
c.*442A>C (n.*442A>C)
c.1275A>C (p.Pro425=)
12g.56004643A>GCA480366245SUOXc.1254A>G (p.Pro418=)
c.*442A>G (n.*442A>G)
c.1275A>G (p.Pro425=)
 ClinVar gnomAD v4
12g.56004643A>TCA480366246SUOXc.1254A>T (p.Pro418=)
c.*442A>T (n.*442A>T)
c.1275A>T (p.Pro425=)
12g.56004644T>ACA385292611SUOXc.1255T>A (p.Ser419Thr)
c.*443T>A (n.*443T>A)
c.1276T>A (p.Ser426Thr)
12g.56004644T>CCA385292612SUOXc.1255T>C (p.Ser419Pro)
c.*443T>C (n.*443T>C)
c.1276T>C (p.Ser426Pro)
12g.56004644T>GCA385292614SUOXc.1255T>G (p.Ser419Ala)
c.*443T>G (n.*443T>G)
c.1276T>G (p.Ser426Ala)
12g.56004645C>ACA385292616SUOXc.1256C>A (p.Ser419Tyr)
c.*444C>A (n.*444C>A)
c.1277C>A (p.Ser426Tyr)
12g.56004645C>GCA385292618SUOXc.1256C>G (p.Ser419Cys)
c.*444C>G (n.*444C>G)
c.1277C>G (p.Ser426Cys)
12g.56004645C>TCA385292622SUOXc.1256C>T (p.Ser419Phe)
c.*444C>T (n.*444C>T)
c.1277C>T (p.Ser426Phe)
12g.56004646C>ACA480366251SUOXc.1257C>A (p.Ser419=)
c.*445C>A (n.*445C>A)
c.1278C>A (p.Ser426=)
12g.56004646C=CA2038197965SUOXc.1257C= (p.Ser419=)
c.*445C= (n.*445C=)
c.1278C= (p.Ser426=)
12g.56004646C>GCA480366249SUOXc.1257C>G (p.Ser419=)
c.*445C>G (n.*445C>G)
c.1278C>G (p.Ser426=)
12g.56004646C>TCA480366250SUOXc.1257C>T (p.Ser419=)
c.*445C>T (n.*445C>T)
c.1278C>T (p.Ser426=)
 dbSNP gnomAD v3 gnomAD v4
12g.56004647delCA2619254274SUOXc.1258del (p.Ile420PhefsTer19)
c.*446del (n.*446del)
c.1279del (p.Ile427PhefsTer19)
 gnomAD v4
12g.56004647A=CA2038197966SUOXc.1258A= (p.Ile420=)
c.*446A= (n.*446A=)
c.1279A= (p.Ile427=)
12g.56004647A>CCA385292626SUOXc.1258A>C (p.Ile420Leu)
c.*446A>C (n.*446A>C)
c.1279A>C (p.Ile427Leu)
12g.56004647A>GCA385292629SUOXc.1258A>G (p.Ile420Val)
c.*446A>G (n.*446A>G)
c.1279A>G (p.Ile427Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004647A>TCA385292632SUOXc.1258A>T (p.Ile420Phe)
c.*446A>T (n.*446A>T)
c.1279A>T (p.Ile427Phe)
12g.56004648T>ACA385292652SUOXc.1259T>A (p.Ile420Asn)
c.*447T>A (n.*447T>A)
c.1280T>A (p.Ile427Asn)
12g.56004648T>CCA385292662SUOXc.1259T>C (p.Ile420Thr)
c.*447T>C (n.*447T>C)
c.1280T>C (p.Ile427Thr)
12g.56004648T>GCA385292684SUOXc.1259T>G (p.Ile420Ser)
c.*447T>G (n.*447T>G)
c.1280T>G (p.Ile427Ser)
12g.56004649T>ACA480366256SUOXc.1260T>A (p.Ile420=)
c.*448T>A (n.*448T>A)
c.1281T>A (p.Ile427=)
12g.56004649T>CCA480366257SUOXc.1260T>C (p.Ile420=)
c.*448T>C (n.*448T>C)
c.1281T>C (p.Ile427=)
12g.56004649T>GCA385292693SUOXc.1260T>G (p.Ile420Met)
c.*448T>G (n.*448T>G)
c.1281T>G (p.Ile427Met)
12g.56004650C>ACA385292703SUOXc.1261C>A (p.Gln421Lys)
c.*449C>A (n.*449C>A)
c.1282C>A (p.Gln428Lys)
12g.56004650C=CA2038197967SUOXc.1261C= (p.Gln421=)
c.*449C= (n.*449C=)
c.1282C= (p.Gln428=)
12g.56004650C>GCA385292699SUOXc.1261C>G (p.Gln421Glu)
c.*449C>G (n.*449C>G)
c.1282C>G (p.Gln428Glu)
 dbSNP gnomAD v2 gnomAD v4
12g.56004650C>TCA385292702SUOXc.1261C>T (p.Gln421Ter)
c.*449C>T (n.*449C>T)
c.1282C>T (p.Gln428Ter)
 gnomAD v4
12g.56004651A>CCA385292705SUOXc.1262A>C (p.Gln421Pro)
c.*450A>C (n.*450A>C)
c.1283A>C (p.Gln428Pro)
12g.56004651A>GCA385292708SUOXc.1262A>G (p.Gln421Arg)
c.*450A>G (n.*450A>G)
c.1283A>G (p.Gln428Arg)
12g.56004651A>TCA385292710SUOXc.1262A>T (p.Gln421Leu)
c.*450A>T (n.*450A>T)
c.1283A>T (p.Gln428Leu)
12g.56004652G>ACA480366261SUOXc.1263G>A (p.Gln421=)
c.*451G>A (n.*451G>A)
c.1284G>A (p.Gln428=)
 gnomAD v4
12g.56004652G>CCA385292718SUOXc.1263G>C (p.Gln421His)
c.*451G>C (n.*451G>C)
c.1284G>C (p.Gln428His)
12g.56004652G>TCA385292722SUOXc.1263G>T (p.Gln421His)
c.*451G>T (n.*451G>T)
c.1284G>T (p.Gln428His)
12g.56004653G>ACA385292730SUOXc.1264G>A (p.Glu422Lys)
c.*452G>A (n.*452G>A)
c.1285G>A (p.Glu429Lys)
12g.56004653G>CCA385292736SUOXc.1264G>C (p.Glu422Gln)
c.*452G>C (n.*452G>C)
c.1285G>C (p.Glu429Gln)
12g.56004653G>TCA385292740SUOXc.1264G>T (p.Glu422Ter)
c.*452G>T (n.*452G>T)
c.1285G>T (p.Glu429Ter)
 COSMIC
12g.56004654A>CCA385292745SUOXc.1265A>C (p.Glu422Ala)
c.*453A>C (n.*453A>C)
c.1286A>C (p.Glu429Ala)
12g.56004654A>GCA385292761SUOXc.1265A>G (p.Glu422Gly)
c.*453A>G (n.*453A>G)
c.1286A>G (p.Glu429Gly)
12g.56004654A>TCA385292769SUOXc.1265A>T (p.Glu422Val)
c.*453A>T (n.*453A>T)
c.1286A>T (p.Glu429Val)
12g.56004655A=CA2038197968SUOXc.1266A= (p.Glu422=)
c.*454A= (n.*454A=)
c.1287A= (p.Glu429=)
12g.56004655A>CCA385292778SUOXc.1266A>C (p.Glu422Asp)
c.*454A>C (n.*454A>C)
c.1287A>C (p.Glu429Asp)
12g.56004655A>GCA6621137SUOXc.1266A>G (p.Glu422=)
c.*454A>G (n.*454A>G)
c.1287A>G (p.Glu429=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004655A>TCA385292777SUOXc.1266A>T (p.Glu422Asp)
c.*454A>T (n.*454A>T)
c.1287A>T (p.Glu429Asp)
12g.56004656C>ACA385292780SUOXc.1267C>A (p.Leu423Ile)
c.*455C>A (n.*455C>A)
c.1288C>A (p.Leu430Ile)
12g.56004656C>GCA385292801SUOXc.1267C>G (p.Leu423Val)
c.*455C>G (n.*455C>G)
c.1288C>G (p.Leu430Val)
12g.56004656C>TCA385292812SUOXc.1267C>T (p.Leu423Phe)
c.*455C>T (n.*455C>T)
c.1288C>T (p.Leu430Phe)
 gnomAD v4
12g.56004657T>ACA385292817SUOXc.1268T>A (p.Leu423His)
c.*456T>A (n.*456T>A)
c.1289T>A (p.Leu430His)
12g.56004657T>CCA6621138SUOXc.1268T>C (p.Leu423Pro)
c.*456T>C (n.*456T>C)
c.1289T>C (p.Leu430Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.56004657T>GCA385292820SUOXc.1268T>G (p.Leu423Arg)
c.*456T>G (n.*456T>G)
c.1289T>G (p.Leu430Arg)
12g.56004657T=CA2038197969SUOXc.1268T= (p.Leu423=)
c.*456T= (n.*456T=)
c.1289T= (p.Leu430=)

Number of alleles fetched