UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.56004477T>A | CA385290945 | SUOX | c.1088T>A (p.Phe363Tyr) c.*276T>A (n.*276T>A) c.1109T>A (p.Phe370Tyr) | |
| 12 | g.56004477T>C | CA385290948 | SUOX | c.1088T>C (p.Phe363Ser) c.*276T>C (n.*276T>C) c.1109T>C (p.Phe370Ser) | |
| 12 | g.56004477T>G | CA385290951 | SUOX | c.1088T>G (p.Phe363Cys) c.*276T>G (n.*276T>G) c.1109T>G (p.Phe370Cys) | |
| 12 | g.56004477T= | CA2038197888 | SUOX | c.1088T= (p.Phe363=) c.*276T= (n.*276T=) c.1109T= (p.Phe370=) | |
| 12 | g.56004477_56004478insA | CA237605262 | SUOX | c.1088_1089insA (p.Phe363LeufsTer?) c.*276_*277insA (n.*276_*277insA) c.1109_1110insA (p.Phe370LeufsTer?) | dbSNP |
| 12 | g.56004478C>A | CA385290957 | SUOX | c.1089C>A (p.Phe363Leu) c.*277C>A (n.*277C>A) c.1110C>A (p.Phe370Leu) | |
| 12 | g.56004478C>G | CA385290959 | SUOX | c.1089C>G (p.Phe363Leu) c.*277C>G (n.*277C>G) c.1110C>G (p.Phe370Leu) | |
| 12 | g.56004478C>T | CA480366383 | SUOX | c.1089C>T (p.Phe363=) c.*277C>T (n.*277C>T) c.1110C>T (p.Phe370=) | |
| 12 | g.56004479C>A | CA385290968 | SUOX | c.1090C>A (p.Pro364Thr) c.*278C>A (n.*278C>A) c.1111C>A (p.Pro371Thr) | |
| 12 | g.56004479C= | CA2038197889 | SUOX | c.1090C= (p.Pro364=) c.*278C= (n.*278C=) c.1111C= (p.Pro371=) | |
| 12 | g.56004479C>G | CA385290971 | SUOX | c.1090C>G (p.Pro364Ala) c.*278C>G (n.*278C>G) c.1111C>G (p.Pro371Ala) | |
| 12 | g.56004479C>T | CA237605263 | SUOX | c.1090C>T (p.Pro364Ser) c.*278C>T (n.*278C>T) c.1111C>T (p.Pro371Ser) | dbSNP gnomAD v4 |
| 12 | g.56004480C>A | CA385290977 | SUOX | c.1091C>A (p.Pro364His) c.*279C>A (n.*279C>A) c.1112C>A (p.Pro371His) | |
| 12 | g.56004480C>G | CA385290980 | SUOX | c.1091C>G (p.Pro364Arg) c.*279C>G (n.*279C>G) c.1112C>G (p.Pro371Arg) | |
| 12 | g.56004480C>T | CA385290982 | SUOX | c.1091C>T (p.Pro364Leu) c.*279C>T (n.*279C>T) c.1112C>T (p.Pro371Leu) | ClinVar dbSNP |
| 12 | g.56004481T>A | CA480366388 | SUOX | c.1092T>A (p.Pro364=) c.*280T>A (n.*280T>A) c.1113T>A (p.Pro371=) | |
| 12 | g.56004481T>C | CA480366389 | SUOX | c.1092T>C (p.Pro364=) c.*280T>C (n.*280T>C) c.1113T>C (p.Pro371=) | |
| 12 | g.56004481T>G | CA480366387 | SUOX | c.1092T>G (p.Pro364=) c.*280T>G (n.*280T>G) c.1113T>G (p.Pro371=) | |
| 12 | g.56004481T= | CA2038197890 | SUOX | c.1092T= (p.Pro364=) c.*280T= (n.*280T=) c.1113T= (p.Pro371=) | |
| 12 | g.56004482G>A | CA385290986 | SUOX | c.1093G>A (p.Val365Met) c.*281G>A (n.*281G>A) c.1114G>A (p.Val372Met) | ClinVar dbSNP |
| 12 | g.56004482G>C | CA385290988 | SUOX | c.1093G>C (p.Val365Leu) c.*281G>C (n.*281G>C) c.1114G>C (p.Val372Leu) | |
| 12 | g.56004482G= | CA2038197891 | SUOX | c.1093G= (p.Val365=) c.*281G= (n.*281G=) c.1114G= (p.Val372=) | |
| 12 | g.56004482G>T | CA385290991 | SUOX | c.1093G>T (p.Val365Leu) c.*281G>T (n.*281G>T) c.1114G>T (p.Val372Leu) | |
| 12 | g.56004482_56004497dup | CA690168149 | SUOX | c.1093_1108dup (p.Pro370ArgfsTer?) c.*281_*296dup (n.*281_*296dup) c.1114_1129dup (p.Pro377ArgfsTer?) | dbSNP |
| 12 | g.56004483T>A | CA385290994 | SUOX | c.1094T>A (p.Val365Glu) c.*282T>A (n.*282T>A) c.1115T>A (p.Val372Glu) | |
| 12 | g.56004483T>C | CA385290996 | SUOX | c.1094T>C (p.Val365Ala) c.*282T>C (n.*282T>C) c.1115T>C (p.Val372Ala) | gnomAD v3 gnomAD v4 |
| 12 | g.56004483T>G | CA385290999 | SUOX | c.1094T>G (p.Val365Gly) c.*282T>G (n.*282T>G) c.1115T>G (p.Val372Gly) | |
| 12 | g.56004484G>A | CA480366392 | SUOX | c.1095G>A (p.Val365=) c.*283G>A (n.*283G>A) c.1116G>A (p.Val372=) | ClinVar dbSNP |
| 12 | g.56004484G>C | CA480366393 | SUOX | c.1095G>C (p.Val365=) c.*283G>C (n.*283G>C) c.1116G>C (p.Val372=) | |
| 12 | g.56004484G= | CA2038197892 | SUOX | c.1095G= (p.Val365=) c.*283G= (n.*283G=) c.1116G= (p.Val372=) | |
| 12 | g.56004484G>T | CA480366394 | SUOX | c.1095G>T (p.Val365=) c.*283G>T (n.*283G>T) c.1116G>T (p.Val372=) | gnomAD v4 |
| 12 | g.56004485C>A | CA6621095 | SUOX | c.1096C>A (p.Arg366Ser) c.*284C>A (n.*284C>A) c.1117C>A (p.Arg373Ser) | dbSNP ExAC gnomAD v2 |
| 12 | g.56004485C= | CA2038197894 | SUOX | c.1096C= (p.Arg366=) c.*284C= (n.*284C=) c.1117C= (p.Arg373=) | |
| 12 | g.56004485C>G | CA385291007 | SUOX | c.1096C>G (p.Arg366Gly) c.*284C>G (n.*284C>G) c.1117C>G (p.Arg373Gly) | |
| 12 | g.56004485C>T | CA6621096 | SUOX | c.1096C>T (p.Arg366Cys) c.*284C>T (n.*284C>T) c.1117C>T (p.Arg373Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004485dup | CA2038197893 | SUOX | c.1096dup (p.Arg366ProfsTer?) c.*284dup (n.*284dup) c.1117dup (p.Arg373ProfsTer?) | ClinVar dbSNP |
| 12 | g.56004486G>A | CA6621097 | SUOX | c.1097G>A (p.Arg366His) c.*285G>A (n.*285G>A) c.1118G>A (p.Arg373His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004486G>C | CA385291012 | SUOX | c.1097G>C (p.Arg366Pro) c.*285G>C (n.*285G>C) c.1118G>C (p.Arg373Pro) | |
| 12 | g.56004486G= | CA2038197895 | SUOX | c.1097G= (p.Arg366=) c.*285G= (n.*285G=) c.1118G= (p.Arg373=) | |
| 12 | g.56004486G>T | CA385291016 | SUOX | c.1097G>T (p.Arg366Leu) c.*285G>T (n.*285G>T) c.1118G>T (p.Arg373Leu) | |
| 12 | g.56004487T>A | CA480366398 | SUOX | c.1098T>A (p.Arg366=) c.*286T>A (n.*286T>A) c.1119T>A (p.Arg373=) | |
| 12 | g.56004487T>C | CA480366399 | SUOX | c.1098T>C (p.Arg366=) c.*286T>C (n.*286T>C) c.1119T>C (p.Arg373=) | dbSNP |
| 12 | g.56004487T>G | CA480366400 | SUOX | c.1098T>G (p.Arg366=) c.*286T>G (n.*286T>G) c.1119T>G (p.Arg373=) | |
| 12 | g.56004487T= | CA2038197896 | SUOX | c.1098T= (p.Arg366=) c.*286T= (n.*286T=) c.1119T= (p.Arg373=) | |
| 12 | g.56004488G>A | CA385291022 | SUOX | c.1099G>A (p.Val367Met) c.*287G>A (n.*287G>A) c.1120G>A (p.Val374Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004488G>C | CA385291026 | SUOX | c.1099G>C (p.Val367Leu) c.*287G>C (n.*287G>C) c.1120G>C (p.Val374Leu) | |
| 12 | g.56004488G= | CA2038197897 | SUOX | c.1099G= (p.Val367=) c.*287G= (n.*287G=) c.1120G= (p.Val374=) | |
| 12 | g.56004488G>T | CA385291028 | SUOX | c.1099G>T (p.Val367Leu) c.*287G>T (n.*287G>T) c.1120G>T (p.Val374Leu) | ClinVar dbSNP |
| 12 | g.56004489T>A | CA385291039 | SUOX | c.1100T>A (p.Val367Glu) c.*288T>A (n.*288T>A) c.1121T>A (p.Val374Glu) | |
| 12 | g.56004489T>C | CA385291037 | SUOX | c.1100T>C (p.Val367Ala) c.*288T>C (n.*288T>C) c.1121T>C (p.Val374Ala) | |
| 12 | g.56004489T>G | CA385291034 | SUOX | c.1100T>G (p.Val367Gly) c.*288T>G (n.*288T>G) c.1121T>G (p.Val374Gly) | |
| 12 | g.56004490G>A | CA480366405 | SUOX | c.1101G>A (p.Val367=) c.*289G>A (n.*289G>A) c.1122G>A (p.Val374=) | gnomAD v4 |
| 12 | g.56004490G>C | CA480366407 | SUOX | c.1101G>C (p.Val367=) c.*289G>C (n.*289G>C) c.1122G>C (p.Val374=) | |
| 12 | g.56004490G>T | CA480366408 | SUOX | c.1101G>T (p.Val367=) c.*289G>T (n.*289G>T) c.1122G>T (p.Val374=) | |
| 12 | g.56004491G>A | CA385291042 | SUOX | c.1102G>A (p.Val368Met) c.*290G>A (n.*290G>A) c.1123G>A (p.Val375Met) | gnomAD v4 |
| 12 | g.56004491G>C | CA385291043 | SUOX | c.1102G>C (p.Val368Leu) c.*290G>C (n.*290G>C) c.1123G>C (p.Val375Leu) | |
| 12 | g.56004491G>T | CA385291044 | SUOX | c.1102G>T (p.Val368Leu) c.*290G>T (n.*290G>T) c.1123G>T (p.Val375Leu) | |
| 12 | g.56004492T>A | CA385291046 | SUOX | c.1103T>A (p.Val368Glu) c.*291T>A (n.*291T>A) c.1124T>A (p.Val375Glu) | |
| 12 | g.56004492T>C | CA385291049 | SUOX | c.1103T>C (p.Val368Ala) c.*291T>C (n.*291T>C) c.1124T>C (p.Val375Ala) | |
| 12 | g.56004492T>G | CA385291050 | SUOX | c.1103T>G (p.Val368Gly) c.*291T>G (n.*291T>G) c.1124T>G (p.Val375Gly) | |
| 12 | g.56004493G>A | CA480366409 | SUOX | c.1104G>A (p.Val368=) c.*292G>A (n.*292G>A) c.1125G>A (p.Val375=) | |
| 12 | g.56004493G>C | CA480366411 | SUOX | c.1104G>C (p.Val368=) c.*292G>C (n.*292G>C) c.1125G>C (p.Val375=) | gnomAD v4 |
| 12 | g.56004493G>T | CA480366412 | SUOX | c.1104G>T (p.Val368=) c.*292G>T (n.*292G>T) c.1125G>T (p.Val375=) | |
| 12 | g.56004494G>A | CA385291055 | SUOX | c.1105G>A (p.Val369Ile) c.*293G>A (n.*293G>A) c.1126G>A (p.Val376Ile) | gnomAD v4 |
| 12 | g.56004494G>C | CA385291063 | SUOX | c.1105G>C (p.Val369Leu) c.*293G>C (n.*293G>C) c.1126G>C (p.Val376Leu) | |
| 12 | g.56004494G= | CA2038197898 | SUOX | c.1105G= (p.Val369=) c.*293G= (n.*293G=) c.1126G= (p.Val376=) | |
| 12 | g.56004494G>T | CA385291057 | SUOX | c.1105G>T (p.Val369Phe) c.*293G>T (n.*293G>T) c.1126G>T (p.Val376Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004495T>A | CA385291064 | SUOX | c.1106T>A (p.Val369Asp) c.*294T>A (n.*294T>A) c.1127T>A (p.Val376Asp) | |
| 12 | g.56004495T>C | CA385291067 | SUOX | c.1106T>C (p.Val369Ala) c.*294T>C (n.*294T>C) c.1127T>C (p.Val376Ala) | |
| 12 | g.56004495T>G | CA385291070 | SUOX | c.1106T>G (p.Val369Gly) c.*294T>G (n.*294T>G) c.1127T>G (p.Val376Gly) | dbSNP |
| 12 | g.56004495T= | CA2038197899 | SUOX | c.1106T= (p.Val369=) c.*294T= (n.*294T=) c.1127T= (p.Val376=) | |
| 12 | g.56004496T>A | CA480366418 | SUOX | c.1107T>A (p.Val369=) c.*295T>A (n.*295T>A) c.1128T>A (p.Val376=) | |
| 12 | g.56004496T>C | CA480366419 | SUOX | c.1107T>C (p.Val369=) c.*295T>C (n.*295T>C) c.1128T>C (p.Val376=) | |
| 12 | g.56004496T>G | CA480366420 | SUOX | c.1107T>G (p.Val369=) c.*295T>G (n.*295T>G) c.1128T>G (p.Val376=) | |
| 12 | g.56004496_56004497delinsTC | CA2038197900 | SUOX | c.1107_1108delinsTC (p.Val369=) c.*295_*296delinsTC (n.*295_*296delinsTC) c.1128_1129delinsTC (p.Val376=) | |
| 12 | g.56004497C>A | CA385291074 | SUOX | c.1108C>A (p.Pro370Thr) c.*296C>A (n.*296C>A) c.1129C>A (p.Pro377Thr) | |
| 12 | g.56004497C>G | CA385291077 | SUOX | c.1108C>G (p.Pro370Ala) c.*296C>G (n.*296C>G) c.1129C>G (p.Pro377Ala) | gnomAD v4 |
| 12 | g.56004497C>T | CA385291080 | SUOX | c.1108C>T (p.Pro370Ser) c.*296C>T (n.*296C>T) c.1129C>T (p.Pro377Ser) | gnomAD v4 |
| 12 | g.56004498del | CA947977023 | SUOX | c.1109del (p.Pro370LeufsTer15) c.*297del (n.*297del) c.1130del (p.Pro377LeufsTer15) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004498C>A | CA385291083 | SUOX | c.1109C>A (p.Pro370His) c.*297C>A (n.*297C>A) c.1130C>A (p.Pro377His) | |
| 12 | g.56004498C= | CA2038197901 | SUOX | c.1109C= (p.Pro370=) c.*297C= (n.*297C=) c.1130C= (p.Pro377=) | |
| 12 | g.56004498C>G | CA385291086 | SUOX | c.1109C>G (p.Pro370Arg) c.*297C>G (n.*297C>G) c.1130C>G (p.Pro377Arg) | dbSNP |
| 12 | g.56004498C>T | CA385291089 | SUOX | c.1109C>T (p.Pro370Leu) c.*297C>T (n.*297C>T) c.1130C>T (p.Pro377Leu) | gnomAD v4 |
| 12 | g.56004499T>A | CA480366422 | SUOX | c.1110T>A (p.Pro370=) c.*298T>A (n.*298T>A) c.1131T>A (p.Pro377=) | |
| 12 | g.56004499T>C | CA480366423 | SUOX | c.1110T>C (p.Pro370=) c.*298T>C (n.*298T>C) c.1131T>C (p.Pro377=) | gnomAD v4 |
| 12 | g.56004499T>G | CA480366436 | SUOX | c.1110T>G (p.Pro370=) c.*298T>G (n.*298T>G) c.1131T>G (p.Pro377=) | |
| 12 | g.56004500G>A | CA385291091 | SUOX | c.1111G>A (p.Gly371Arg) c.*299G>A (n.*299G>A) c.1132G>A (p.Gly378Arg) | |
| 12 | g.56004500G>C | CA385291094 | SUOX | c.1111G>C (p.Gly371Arg) c.*299G>C (n.*299G>C) c.1132G>C (p.Gly378Arg) | |
| 12 | g.56004500G>T | CA385291096 | SUOX | c.1111G>T (p.Gly371Ter) c.*299G>T (n.*299G>T) c.1132G>T (p.Gly378Ter) | |
| 12 | g.56004501G>A | CA385291108 | SUOX | c.1112G>A (p.Gly371Glu) c.*300G>A (n.*300G>A) c.1133G>A (p.Gly378Glu) | gnomAD v4 |
| 12 | g.56004501G>C | CA385291102 | SUOX | c.1112G>C (p.Gly371Ala) c.*300G>C (n.*300G>C) c.1133G>C (p.Gly378Ala) | |
| 12 | g.56004501G>T | CA385291100 | SUOX | c.1112G>T (p.Gly371Val) c.*300G>T (n.*300G>T) c.1133G>T (p.Gly378Val) | |
| 12 | g.56004501_56004502delinsGA | CA2038197902 | SUOX | c.1112_1113delinsGA (p.Gly371=) c.*300_*301delinsGA (n.*300_*301delinsGA) c.1133_1134delinsGA (p.Gly378=) | |
| 12 | g.56004502del | CA2038197903 | SUOX | c.1113del (p.Val372TrpfsTer13) c.*301del (n.*301del) c.1134del (p.Val379TrpfsTer13) | dbSNP |
| 12 | g.56004502A= | CA2038197904 | SUOX | c.1113A= (p.Gly371=) c.*301A= (n.*301A=) c.1134A= (p.Gly378=) | |
| 12 | g.56004502A>C | CA480366444 | SUOX | c.1113A>C (p.Gly371=) c.*301A>C (n.*301A>C) c.1134A>C (p.Gly378=) | |
| 12 | g.56004502A>G | CA480366445 | SUOX | c.1113A>G (p.Gly371=) c.*301A>G (n.*301A>G) c.1134A>G (p.Gly378=) | dbSNP |
| 12 | g.56004502A>T | CA480366443 | SUOX | c.1113A>T (p.Gly371=) c.*301A>T (n.*301A>T) c.1134A>T (p.Gly378=) | |
| 12 | g.56004503G>A | CA385291110 | SUOX | c.1114G>A (p.Val372Met) c.*302G>A (n.*302G>A) c.1135G>A (p.Val379Met) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004503G>C | CA385291112 | SUOX | c.1114G>C (p.Val372Leu) c.*302G>C (n.*302G>C) c.1135G>C (p.Val379Leu) | |
| 12 | g.56004503G= | CA2038197905 | SUOX | c.1114G= (p.Val372=) c.*302G= (n.*302G=) c.1135G= (p.Val379=) | |
| 12 | g.56004503G>T | CA385291114 | SUOX | c.1114G>T (p.Val372Leu) c.*302G>T (n.*302G>T) c.1135G>T (p.Val379Leu) | |
| 12 | g.56004504T>A | CA385291117 | SUOX | c.1115T>A (p.Val372Glu) c.*303T>A (n.*303T>A) c.1136T>A (p.Val379Glu) | |
| 12 | g.56004504T>C | CA6621098 | SUOX | c.1115T>C (p.Val372Ala) c.*303T>C (n.*303T>C) c.1136T>C (p.Val379Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004504T>G | CA385291125 | SUOX | c.1115T>G (p.Val372Gly) c.*303T>G (n.*303T>G) c.1136T>G (p.Val379Gly) | |
| 12 | g.56004504T= | CA2038197906 | SUOX | c.1115T= (p.Val372=) c.*303T= (n.*303T=) c.1136T= (p.Val379=) | |
| 12 | g.56004505G>A | CA480366450 | SUOX | c.1116G>A (p.Val372=) c.*304G>A (n.*304G>A) c.1137G>A (p.Val379=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004505G>C | CA480366451 | SUOX | c.1116G>C (p.Val372=) c.*304G>C (n.*304G>C) c.1137G>C (p.Val379=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004505G= | CA2038197907 | SUOX | c.1116G= (p.Val372=) c.*304G= (n.*304G=) c.1137G= (p.Val379=) | |
| 12 | g.56004505G>T | CA480366452 | SUOX | c.1116G>T (p.Val372=) c.*304G>T (n.*304G>T) c.1137G>T (p.Val379=) | |
| 12 | g.56004506_56004507insGGGGG | CA919094430 | SUOX | c.1117_1118insGGGGG (p.Val373GlyfsTer14) c.*305_*306insGGGGG (n.*305_*306insGGGGG) c.1138_1139insGGGGG (p.Val380GlyfsTer14) | dbSNP |
| 12 | g.56004506G>A | CA385291128 | SUOX | c.1117G>A (p.Val373Met) c.*305G>A (n.*305G>A) c.1138G>A (p.Val380Met) | |
| 12 | g.56004506G>C | CA385291130 | SUOX | c.1117G>C (p.Val373Leu) c.*305G>C (n.*305G>C) c.1138G>C (p.Val380Leu) | |
| 12 | g.56004506G>T | CA385291133 | SUOX | c.1117G>T (p.Val373Leu) c.*305G>T (n.*305G>T) c.1138G>T (p.Val380Leu) | |
| 12 | g.56004507T>A | CA385291137 | SUOX | c.1118T>A (p.Val373Glu) c.*306T>A (n.*306T>A) c.1139T>A (p.Val380Glu) | |
| 12 | g.56004507T>C | CA6621099 | SUOX | c.1118T>C (p.Val373Ala) c.*306T>C (n.*306T>C) c.1139T>C (p.Val380Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004507T>G | CA385291141 | SUOX | c.1118T>G (p.Val373Gly) c.*306T>G (n.*306T>G) c.1139T>G (p.Val380Gly) | dbSNP |
| 12 | g.56004507T= | CA2038197909 | SUOX | c.1118T= (p.Val373=) c.*306T= (n.*306T=) c.1139T= (p.Val380=) | |
| 12 | g.56004507_56004508delinsTG | CA2038197908 | SUOX | c.1118_1119delinsTG (p.Val373=) c.*306_*307delinsTG (n.*306_*307delinsTG) c.1139_1140delinsTG (p.Val380=) | |
| 12 | g.56004508G>A | CA6621100 | SUOX | c.1119G>A (p.Val373=) c.*307G>A (n.*307G>A) c.1140G>A (p.Val380=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004508G>C | CA480366455 | SUOX | c.1119G>C (p.Val373=) c.*307G>C (n.*307G>C) c.1140G>C (p.Val380=) | |
| 12 | g.56004508G= | CA2038197910 | SUOX | c.1119G= (p.Val373=) c.*307G= (n.*307G=) c.1140G= (p.Val380=) | |
| 12 | g.56004508G>T | CA480366457 | SUOX | c.1119G>T (p.Val373=) c.*307G>T (n.*307G>T) c.1140G>T (p.Val380=) | |
| 12 | g.56004510dup | CA605401137 | SUOX | c.1121dup (p.Ala375CysfsTer?) c.*309dup (n.*309dup) c.1142dup (p.Ala382CysfsTer?) | gnomAD v2 COSMIC |
| 12 | g.56004510del | CA237605269 | SUOX | c.1121del (p.Gly374ValfsTer11) c.*309del (n.*309del) c.1142del (p.Gly381ValfsTer11) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004509G>A | CA385291155 | SUOX | c.1120G>A (p.Gly374Ser) c.*308G>A (n.*308G>A) c.1141G>A (p.Gly381Ser) | |
| 12 | g.56004509G>C | CA385291152 | SUOX | c.1120G>C (p.Gly374Arg) c.*308G>C (n.*308G>C) c.1141G>C (p.Gly381Arg) | |
| 12 | g.56004509G>T | CA385291148 | SUOX | c.1120G>T (p.Gly374Cys) c.*308G>T (n.*308G>T) c.1141G>T (p.Gly381Cys) | |
| 12 | g.56004510G>A | CA385291159 | SUOX | c.1121G>A (p.Gly374Asp) c.*309G>A (n.*309G>A) c.1142G>A (p.Gly381Asp) | |
| 12 | g.56004510G>C | CA385291162 | SUOX | c.1121G>C (p.Gly374Ala) c.*309G>C (n.*309G>C) c.1142G>C (p.Gly381Ala) | gnomAD v4 |
| 12 | g.56004510G>T | CA385291164 | SUOX | c.1121G>T (p.Gly374Val) c.*309G>T (n.*309G>T) c.1142G>T (p.Gly381Val) | |
| 12 | g.56004511T>A | CA480366458 | SUOX | c.1122T>A (p.Gly374=) c.*310T>A (n.*310T>A) c.1143T>A (p.Gly381=) | |
| 12 | g.56004511T>C | CA480366460 | SUOX | c.1122T>C (p.Gly374=) c.*310T>C (n.*310T>C) c.1143T>C (p.Gly381=) | |
| 12 | g.56004511T>G | CA6621101 | SUOX | c.1122T>G (p.Gly374=) c.*310T>G (n.*310T>G) c.1143T>G (p.Gly381=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004511T= | CA2038197911 | SUOX | c.1122T= (p.Gly374=) c.*310T= (n.*310T=) c.1143T= (p.Gly381=) | |
| 12 | g.56004512G>A | CA385291171 | SUOX | c.1123G>A (p.Ala375Thr) c.*311G>A (n.*311G>A) c.1144G>A (p.Ala382Thr) | |
| 12 | g.56004512G>C | CA385291173 | SUOX | c.1123G>C (p.Ala375Pro) c.*311G>C (n.*311G>C) c.1144G>C (p.Ala382Pro) | dbSNP gnomAD v4 |
| 12 | g.56004512G= | CA2038197912 | SUOX | c.1123G= (p.Ala375=) c.*311G= (n.*311G=) c.1144G= (p.Ala382=) | |
| 12 | g.56004512G>T | CA385291177 | SUOX | c.1123G>T (p.Ala375Ser) c.*311G>T (n.*311G>T) c.1144G>T (p.Ala382Ser) | |
| 12 | g.56004513C>A | CA6621103 | SUOX | c.1124C>A (p.Ala375Asp) c.*312C>A (n.*312C>A) c.1145C>A (p.Ala382Asp) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.56004513C= | CA2038197913 | SUOX | c.1124C= (p.Ala375=) c.*312C= (n.*312C=) c.1145C= (p.Ala382=) | |
| 12 | g.56004513C>G | CA6621102 | SUOX | c.1124C>G (p.Ala375Gly) c.*312C>G (n.*312C>G) c.1145C>G (p.Ala382Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004513C>T | CA385291186 | SUOX | c.1124C>T (p.Ala375Val) c.*312C>T (n.*312C>T) c.1145C>T (p.Ala382Val) | |
| 12 | g.56004514C>A | CA480366466 | SUOX | c.1125C>A (p.Ala375=) c.*313C>A (n.*313C>A) c.1146C>A (p.Ala382=) | |
| 12 | g.56004514C= | CA2038197914 | SUOX | c.1125C= (p.Ala375=) c.*313C= (n.*313C=) c.1146C= (p.Ala382=) | |
| 12 | g.56004514C>G | CA6621104 | SUOX | c.1125C>G (p.Ala375=) c.*313C>G (n.*313C>G) c.1146C>G (p.Ala382=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004514C>T | CA480366467 | SUOX | c.1125C>T (p.Ala375=) c.*313C>T (n.*313C>T) c.1146C>T (p.Ala382=) | |
| 12 | g.56004515C>A | CA6621105 | SUOX | c.1126C>A (p.Arg376Ser) c.*314C>A (n.*314C>A) c.1147C>A (p.Arg383Ser) | dbSNP ExAC |
| 12 | g.56004515C= | CA2038197915 | SUOX | c.1126C= (p.Arg376=) c.*314C= (n.*314C=) c.1147C= (p.Arg383=) | |
| 12 | g.56004515C>G | CA385291195 | SUOX | c.1126C>G (p.Arg376Gly) c.*314C>G (n.*314C>G) c.1147C>G (p.Arg383Gly) | |
| 12 | g.56004515C>T | CA237605274 | SUOX | c.1126C>T (p.Arg376Cys) c.*314C>T (n.*314C>T) c.1147C>T (p.Arg383Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004516G>A | CA385291207 | SUOX | c.1127G>A (p.Arg376His) c.*315G>A (n.*315G>A) c.1148G>A (p.Arg383His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.56004516G>C | CA6621106 | SUOX | c.1127G>C (p.Arg376Pro) c.*315G>C (n.*315G>C) c.1148G>C (p.Arg383Pro) | dbSNP ExAC gnomAD v4 |
| 12 | g.56004516G= | CA2038197916 | SUOX | c.1127G= (p.Arg376=) c.*315G= (n.*315G=) c.1148G= (p.Arg383=) | |
| 12 | g.56004516G>T | CA6621107 | SUOX | c.1127G>T (p.Arg376Leu) c.*315G>T (n.*315G>T) c.1148G>T (p.Arg383Leu) | dbSNP ExAC |
| 12 | g.56004517C>A | CA480366471 | SUOX | c.1128C>A (p.Arg376=) c.*316C>A (n.*316C>A) c.1149C>A (p.Arg383=) | |
| 12 | g.56004517C= | CA2038197917 | SUOX | c.1128C= (p.Arg376=) c.*316C= (n.*316C=) c.1149C= (p.Arg383=) | |
| 12 | g.56004517C>G | CA480366472 | SUOX | c.1128C>G (p.Arg376=) c.*316C>G (n.*316C>G) c.1149C>G (p.Arg383=) | |
| 12 | g.56004517C>T | CA6621108 | SUOX | c.1128C>T (p.Arg376=) c.*316C>T (n.*316C>T) c.1149C>T (p.Arg383=) | dbSNP ExAC |
| 12 | g.56004518C>A | CA385291212 | SUOX | c.1129C>A (p.His377Asn) c.*317C>A (n.*317C>A) c.1150C>A (p.His384Asn) | |
| 12 | g.56004518C= | CA2038197918 | SUOX | c.1129C= (p.His377=) c.*317C= (n.*317C=) c.1150C= (p.His384=) | |
| 12 | g.56004518C>G | CA385291214 | SUOX | c.1129C>G (p.His377Asp) c.*317C>G (n.*317C>G) c.1150C>G (p.His384Asp) | |
| 12 | g.56004518C>T | CA6621109 | SUOX | c.1129C>T (p.His377Tyr) c.*317C>T (n.*317C>T) c.1150C>T (p.His384Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004519A= | CA2038197919 | SUOX | c.1130A= (p.His377=) c.*318A= (n.*318A=) c.1151A= (p.His384=) | |
| 12 | g.56004519A>C | CA6621110 | SUOX | c.1130A>C (p.His377Pro) c.*318A>C (n.*318A>C) c.1151A>C (p.His384Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004519A>G | CA385291222 | SUOX | c.1130A>G (p.His377Arg) c.*318A>G (n.*318A>G) c.1151A>G (p.His384Arg) | |
| 12 | g.56004519A>T | CA6621111 | SUOX | c.1130A>T (p.His377Leu) c.*318A>T (n.*318A>T) c.1151A>T (p.His384Leu) | dbSNP ExAC |
| 12 | g.56004520T>A | CA385291226 | SUOX | c.1131T>A (p.His377Gln) c.*319T>A (n.*319T>A) c.1152T>A (p.His384Gln) | |
| 12 | g.56004520T>C | CA480366477 | SUOX | c.1131T>C (p.His377=) c.*319T>C (n.*319T>C) c.1152T>C (p.His384=) | |
| 12 | g.56004520T>G | CA385291229 | SUOX | c.1131T>G (p.His377Gln) c.*319T>G (n.*319T>G) c.1152T>G (p.His384Gln) | |
| 12 | g.56004521G>A | CA385291235 | SUOX | c.1132G>A (p.Val378Ile) c.*320G>A (n.*320G>A) c.1153G>A (p.Val385Ile) | |
| 12 | g.56004521G>C | CA6621112 | SUOX | c.1132G>C (p.Val378Leu) c.*320G>C (n.*320G>C) c.1153G>C (p.Val385Leu) | dbSNP ExAC |
| 12 | g.56004521G= | CA2038197920 | SUOX | c.1132G= (p.Val378=) c.*320G= (n.*320G=) c.1153G= (p.Val385=) | |
| 12 | g.56004521G>T | CA385291240 | SUOX | c.1132G>T (p.Val378Phe) c.*320G>T (n.*320G>T) c.1153G>T (p.Val385Phe) | |
| 12 | g.56004522T>A | CA385291253 | SUOX | c.1133T>A (p.Val378Asp) c.*321T>A (n.*321T>A) c.1154T>A (p.Val385Asp) | |
| 12 | g.56004522T>C | CA385291249 | SUOX | c.1133T>C (p.Val378Ala) c.*321T>C (n.*321T>C) c.1154T>C (p.Val385Ala) | |
| 12 | g.56004522T>G | CA385291246 | SUOX | c.1133T>G (p.Val378Gly) c.*321T>G (n.*321T>G) c.1154T>G (p.Val385Gly) | |
| 12 | g.56004523C>A | CA480366483 | SUOX | c.1134C>A (p.Val378=) c.*322C>A (n.*322C>A) c.1155C>A (p.Val385=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004523C= | CA2038197921 | SUOX | c.1134C= (p.Val378=) c.*322C= (n.*322C=) c.1155C= (p.Val385=) | |
| 12 | g.56004523C>G | CA480366485 | SUOX | c.1134C>G (p.Val378=) c.*322C>G (n.*322C>G) c.1155C>G (p.Val385=) | |
| 12 | g.56004523C>T | CA6621113 | SUOX | c.1134C>T (p.Val378=) c.*322C>T (n.*322C>T) c.1155C>T (p.Val385=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004524A>C | CA385291255 | SUOX | c.1135A>C (p.Lys379Gln) c.*323A>C (n.*323A>C) c.1156A>C (p.Lys386Gln) | ClinVar gnomAD v4 |
| 12 | g.56004524A>G | CA385291257 | SUOX | c.1135A>G (p.Lys379Glu) c.*323A>G (n.*323A>G) c.1156A>G (p.Lys386Glu) | |
| 12 | g.56004524A>T | CA385291260 | SUOX | c.1135A>T (p.Lys379Ter) c.*323A>T (n.*323A>T) c.1156A>T (p.Lys386Ter) | gnomAD v4 |
| 12 | g.56004525A= | CA2038197922 | SUOX | c.1136A= (p.Lys379=) c.*324A= (n.*324A=) c.1157A= (p.Lys386=) | |
| 12 | g.56004525A>C | CA385291263 | SUOX | c.1136A>C (p.Lys379Thr) c.*324A>C (n.*324A>C) c.1157A>C (p.Lys386Thr) | |
| 12 | g.56004525A>G | CA6621114 | SUOX | c.1136A>G (p.Lys379Arg) c.*324A>G (n.*324A>G) c.1157A>G (p.Lys386Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004525A>T | CA385291265 | SUOX | c.1136A>T (p.Lys379Ile) c.*324A>T (n.*324A>T) c.1157A>T (p.Lys386Ile) | |
| 12 | g.56004526A= | CA2038197923 | SUOX | c.1137A= (p.Lys379=) c.*325A= (n.*325A=) c.1158A= (p.Lys386=) | |
| 12 | g.56004526A>C | CA385291271 | SUOX | c.1137A>C (p.Lys379Asn) c.*325A>C (n.*325A>C) c.1158A>C (p.Lys386Asn) | gnomAD v4 |
| 12 | g.56004526A>G | CA6621115 | SUOX | c.1137A>G (p.Lys379=) c.*325A>G (n.*325A>G) c.1158A>G (p.Lys386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004526A>T | CA385291290 | SUOX | c.1137A>T (p.Lys379Asn) c.*325A>T (n.*325A>T) c.1158A>T (p.Lys386Asn) | |
| 12 | g.56004527T>A | CA385291295 | SUOX | c.1138T>A (p.Trp380Arg) c.*326T>A (n.*326T>A) c.1159T>A (p.Trp387Arg) | |
| 12 | g.56004527T>C | CA385291299 | SUOX | c.1138T>C (p.Trp380Arg) c.*326T>C (n.*326T>C) c.1159T>C (p.Trp387Arg) | |
| 12 | g.56004527T>G | CA385291303 | SUOX | c.1138T>G (p.Trp380Gly) c.*326T>G (n.*326T>G) c.1159T>G (p.Trp387Gly) | |
| 12 | g.56004528G>A | CA385291308 | SUOX | c.1139G>A (p.Trp380Ter) c.*327G>A (n.*327G>A) c.1160G>A (p.Trp387Ter) | |
| 12 | g.56004528G>C | CA385291311 | SUOX | c.1139G>C (p.Trp380Ser) c.*327G>C (n.*327G>C) c.1160G>C (p.Trp387Ser) | |
| 12 | g.56004528G>T | CA385291304 | SUOX | c.1139G>T (p.Trp380Leu) c.*327G>T (n.*327G>T) c.1160G>T (p.Trp387Leu) | |
| 12 | g.56004529G>A | CA385291318 | SUOX | c.1140G>A (p.Trp380Ter) c.*328G>A (n.*328G>A) c.1161G>A (p.Trp387Ter) | |
| 12 | g.56004529G>C | CA385291344 | SUOX | c.1140G>C (p.Trp380Cys) c.*328G>C (n.*328G>C) c.1161G>C (p.Trp387Cys) | |
| 12 | g.56004529G>T | CA385291323 | SUOX | c.1140G>T (p.Trp380Cys) c.*328G>T (n.*328G>T) c.1161G>T (p.Trp387Cys) | gnomAD v4 |
| 12 | g.56004530C>A | CA385291347 | SUOX | c.1141C>A (p.Leu381Met) c.*329C>A (n.*329C>A) c.1162C>A (p.Leu388Met) | |
| 12 | g.56004530C= | CA2038197924 | SUOX | c.1141C= (p.Leu381=) c.*329C= (n.*329C=) c.1162C= (p.Leu388=) | |
| 12 | g.56004530C>G | CA385291349 | SUOX | c.1141C>G (p.Leu381Val) c.*329C>G (n.*329C>G) c.1162C>G (p.Leu388Val) | |
| 12 | g.56004530C>T | CA480366494 | SUOX | c.1141C>T (p.Leu381=) c.*329C>T (n.*329C>T) c.1162C>T (p.Leu388=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004531T>A | CA385291353 | SUOX | c.1142T>A (p.Leu381Gln) c.*330T>A (n.*330T>A) c.1163T>A (p.Leu388Gln) | |
| 12 | g.56004531T>C | CA385291355 | SUOX | c.1142T>C (p.Leu381Pro) c.*330T>C (n.*330T>C) c.1163T>C (p.Leu388Pro) | |
| 12 | g.56004531T>G | CA385291357 | SUOX | c.1142T>G (p.Leu381Arg) c.*330T>G (n.*330T>G) c.1163T>G (p.Leu388Arg) | |
| 12 | g.56004532G>A | CA480366496 | SUOX | c.1143G>A (p.Leu381=) c.*331G>A (n.*331G>A) c.1164G>A (p.Leu388=) | |
| 12 | g.56004532G>C | CA480366497 | SUOX | c.1143G>C (p.Leu381=) c.*331G>C (n.*331G>C) c.1164G>C (p.Leu388=) | |
| 12 | g.56004532G>T | CA480366498 | SUOX | c.1143G>T (p.Leu381=) c.*331G>T (n.*331G>T) c.1164G>T (p.Leu388=) | |
| 12 | g.56004533G>A | CA385291361 | SUOX | c.1144G>A (p.Gly382Ser) c.*332G>A (n.*332G>A) c.1165G>A (p.Gly389Ser) | |
| 12 | g.56004533G>C | CA385291365 | SUOX | c.1144G>C (p.Gly382Arg) c.*332G>C (n.*332G>C) c.1165G>C (p.Gly389Arg) | |
| 12 | g.56004533G>T | CA385291368 | SUOX | c.1144G>T (p.Gly382Cys) c.*332G>T (n.*332G>T) c.1165G>T (p.Gly389Cys) | |
| 12 | g.56004534G>A | CA385291369 | SUOX | c.1145G>A (p.Gly382Asp) c.*333G>A (n.*333G>A) c.1166G>A (p.Gly389Asp) | gnomAD v4 |
| 12 | g.56004534G>C | CA385291370 | SUOX | c.1145G>C (p.Gly382Ala) c.*333G>C (n.*333G>C) c.1166G>C (p.Gly389Ala) | |
| 12 | g.56004534G>T | CA385291373 | SUOX | c.1145G>T (p.Gly382Val) c.*333G>T (n.*333G>T) c.1166G>T (p.Gly389Val) | |
| 12 | g.56004535C>A | CA480366503 | SUOX | c.1146C>A (p.Gly382=) c.*334C>A (n.*334C>A) c.1167C>A (p.Gly389=) | |
| 12 | g.56004535C>G | CA480366504 | SUOX | c.1146C>G (p.Gly382=) c.*334C>G (n.*334C>G) c.1167C>G (p.Gly389=) | |
| 12 | g.56004535C>T | CA480366506 | SUOX | c.1146C>T (p.Gly382=) c.*334C>T (n.*334C>T) c.1167C>T (p.Gly389=) | |
| 12 | g.56004536A>C | CA480366507 | SUOX | c.1147A>C (p.Arg383=) c.*335A>C (n.*335A>C) c.1168A>C (p.Arg390=) | |
| 12 | g.56004536A>G | CA385291385 | SUOX | c.1147A>G (p.Arg383Gly) c.*335A>G (n.*335A>G) c.1168A>G (p.Arg390Gly) | gnomAD v4 |
| 12 | g.56004536A>T | CA385291391 | SUOX | c.1147A>T (p.Arg383Ter) c.*335A>T (n.*335A>T) c.1168A>T (p.Arg390Ter) | |
| 12 | g.56004536_56004540delinsAGAGT | CA2038197925 | SUOX | c.1147_1151delinsAGAGT (p.Arg383=) c.*335_*339delinsAGAGT (n.*335_*339delinsAGAGT) c.1168_1172delinsAGAGT (p.Arg390=) | |
| 12 | g.56004536_56004537insCTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGTCTG | CA2619254094 | SUOX | c.1147_1148insCTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGTCTG (p.Arg383ThrfsTer23) c.*335_*336insCTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGTCTG (n.*335_*336insCTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGTCTG) c.1168_1169insCTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGTCTG (p.Arg390ThrfsTer23) | gnomAD v4 |
| 12 | g.56004537del | CA2619254096 | SUOX | c.1148del (p.Arg383LysfsTer2) c.*336del (n.*336del) c.1169del (p.Arg390LysfsTer2) | gnomAD v4 |
| 12 | g.56004537G>A | CA385291400 | SUOX | c.1148G>A (p.Arg383Lys) c.*336G>A (n.*336G>A) c.1169G>A (p.Arg390Lys) | |
| 12 | g.56004537G>C | CA385291396 | SUOX | c.1148G>C (p.Arg383Thr) c.*336G>C (n.*336G>C) c.1169G>C (p.Arg390Thr) | |
| 12 | g.56004537G>T | CA385291393 | SUOX | c.1148G>T (p.Arg383Ile) c.*336G>T (n.*336G>T) c.1169G>T (p.Arg390Ile) | |
| 12 | g.56004542_56004545del | CA605401144 | SUOX | c.1153_1156del (p.Ser385CysfsTer27) c.*341_*344del (n.*341_*344del) c.1174_1177del (p.Ser392CysfsTer27) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004538A>C | CA385291404 | SUOX | c.1149A>C (p.Arg383Ser) c.*337A>C (n.*337A>C) c.1170A>C (p.Arg390Ser) | |
| 12 | g.56004538A>G | CA480366515 | SUOX | c.1149A>G (p.Arg383=) c.*337A>G (n.*337A>G) c.1170A>G (p.Arg390=) | gnomAD v4 |
| 12 | g.56004538A>T | CA385291408 | SUOX | c.1149A>T (p.Arg383Ser) c.*337A>T (n.*337A>T) c.1170A>T (p.Arg390Ser) | |
| 12 | g.56004539G>A | CA385291422 | SUOX | c.1150G>A (p.Val384Met) c.*338G>A (n.*338G>A) c.1171G>A (p.Val391Met) | |
| 12 | g.56004539G>C | CA385291429 | SUOX | c.1150G>C (p.Val384Leu) c.*338G>C (n.*338G>C) c.1171G>C (p.Val391Leu) | dbSNP |
| 12 | g.56004539G= | CA2038197926 | SUOX | c.1150G= (p.Val384=) c.*338G= (n.*338G=) c.1171G= (p.Val391=) | |
| 12 | g.56004539G>T | CA385291432 | SUOX | c.1150G>T (p.Val384Leu) c.*338G>T (n.*338G>T) c.1171G>T (p.Val391Leu) | |
| 12 | g.56004540T>A | CA385291441 | SUOX | c.1151T>A (p.Val384Glu) c.*339T>A (n.*339T>A) c.1172T>A (p.Val391Glu) | |
| 12 | g.56004540T>C | CA385291442 | SUOX | c.1151T>C (p.Val384Ala) c.*339T>C (n.*339T>C) c.1172T>C (p.Val391Ala) | |
| 12 | g.56004540T>G | CA385291443 | SUOX | c.1151T>G (p.Val384Gly) c.*339T>G (n.*339T>G) c.1172T>G (p.Val391Gly) | gnomAD v4 |
| 12 | g.56004541G>A | CA480366518 | SUOX | c.1152G>A (p.Val384=) c.*340G>A (n.*340G>A) c.1173G>A (p.Val391=) | |
| 12 | g.56004541G>C | CA480366519 | SUOX | c.1152G>C (p.Val384=) c.*340G>C (n.*340G>C) c.1173G>C (p.Val391=) | |
| 12 | g.56004541G= | CA2038197927 | SUOX | c.1152G= (p.Val384=) c.*340G= (n.*340G=) c.1173G= (p.Val391=) | |
| 12 | g.56004541G>T | CA6621116 | SUOX | c.1152G>T (p.Val384=) c.*340G>T (n.*340G>T) c.1173G>T (p.Val391=) | dbSNP ExAC gnomAD v2 |
| 12 | g.56004542A>C | CA385291449 | SUOX | c.1153A>C (p.Ser385Arg) c.*341A>C (n.*341A>C) c.1174A>C (p.Ser392Arg) | |
| 12 | g.56004542A>G | CA385291451 | SUOX | c.1153A>G (p.Ser385Gly) c.*341A>G (n.*341A>G) c.1174A>G (p.Ser392Gly) | |
| 12 | g.56004542A>T | CA385291457 | SUOX | c.1153A>T (p.Ser385Cys) c.*341A>T (n.*341A>T) c.1174A>T (p.Ser392Cys) | |
| 12 | g.56004543G>A | CA385291474 | SUOX | c.1154G>A (p.Ser385Asn) c.*342G>A (n.*342G>A) c.1175G>A (p.Ser392Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004543G>C | CA385291470 | SUOX | c.1154G>C (p.Ser385Thr) c.*342G>C (n.*342G>C) c.1175G>C (p.Ser392Thr) | |
| 12 | g.56004543G= | CA2038197928 | SUOX | c.1154G= (p.Ser385=) c.*342G= (n.*342G=) c.1175G= (p.Ser392=) | |
| 12 | g.56004543G>T | CA385291464 | SUOX | c.1154G>T (p.Ser385Ile) c.*342G>T (n.*342G>T) c.1175G>T (p.Ser392Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004544T>A | CA385291484 | SUOX | c.1155T>A (p.Ser385Arg) c.*343T>A (n.*343T>A) c.1176T>A (p.Ser392Arg) | |
| 12 | g.56004544T>C | CA480366524 | SUOX | c.1155T>C (p.Ser385=) c.*343T>C (n.*343T>C) c.1176T>C (p.Ser392=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004544T>G | CA385291491 | SUOX | c.1155T>G (p.Ser385Arg) c.*343T>G (n.*343T>G) c.1176T>G (p.Ser392Arg) | |
| 12 | g.56004544T= | CA2038197929 | SUOX | c.1155T= (p.Ser385=) c.*343T= (n.*343T=) c.1176T= (p.Ser392=) | |
| 12 | g.56004545G>A | CA6621117 | SUOX | c.1156G>A (p.Val386Met) c.*344G>A (n.*344G>A) c.1177G>A (p.Val393Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004545G>C | CA385291496 | SUOX | c.1156G>C (p.Val386Leu) c.*344G>C (n.*344G>C) c.1177G>C (p.Val393Leu) | |
| 12 | g.56004545G= | CA2038197930 | SUOX | c.1156G= (p.Val386=) c.*344G= (n.*344G=) c.1177G= (p.Val393=) | |
| 12 | g.56004545G>T | CA385291503 | SUOX | c.1156G>T (p.Val386Leu) c.*344G>T (n.*344G>T) c.1177G>T (p.Val393Leu) | |
| 12 | g.56004546T>A | CA385291510 | SUOX | c.1157T>A (p.Val386Glu) c.*345T>A (n.*345T>A) c.1178T>A (p.Val393Glu) | |
| 12 | g.56004546T>C | CA385291515 | SUOX | c.1157T>C (p.Val386Ala) c.*345T>C (n.*345T>C) c.1178T>C (p.Val393Ala) | |
| 12 | g.56004546T>G | CA385291521 | SUOX | c.1157T>G (p.Val386Gly) c.*345T>G (n.*345T>G) c.1178T>G (p.Val393Gly) | |
| 12 | g.56004547G>A | CA480366526 | SUOX | c.1158G>A (p.Val386=) c.*346G>A (n.*346G>A) c.1179G>A (p.Val393=) | |
| 12 | g.56004547G>C | CA480366527 | SUOX | c.1158G>C (p.Val386=) c.*346G>C (n.*346G>C) c.1179G>C (p.Val393=) | |
| 12 | g.56004547G>T | CA480366528 | SUOX | c.1158G>T (p.Val386=) c.*346G>T (n.*346G>T) c.1179G>T (p.Val393=) | |
| 12 | g.56004548C>A | CA385291530 | SUOX | c.1159C>A (p.Gln387Lys) c.*347C>A (n.*347C>A) c.1180C>A (p.Gln394Lys) | |
| 12 | g.56004548C>G | CA385291540 | SUOX | c.1159C>G (p.Gln387Glu) c.*347C>G (n.*347C>G) c.1180C>G (p.Gln394Glu) | |
| 12 | g.56004548C>T | CA385291559 | SUOX | c.1159C>T (p.Gln387Ter) c.*347C>T (n.*347C>T) c.1180C>T (p.Gln394Ter) | COSMIC |
| 12 | g.56004549A>C | CA385291561 | SUOX | c.1160A>C (p.Gln387Pro) c.*348A>C (n.*348A>C) c.1181A>C (p.Gln394Pro) | |
| 12 | g.56004549A>G | CA385291562 | SUOX | c.1160A>G (p.Gln387Arg) c.*348A>G (n.*348A>G) c.1181A>G (p.Gln394Arg) | gnomAD v4 |
| 12 | g.56004549A>T | CA385291563 | SUOX | c.1160A>T (p.Gln387Leu) c.*348A>T (n.*348A>T) c.1181A>T (p.Gln394Leu) | |
| 12 | g.56004550G>A | CA480366532 | SUOX | c.1161G>A (p.Gln387=) c.*349G>A (n.*349G>A) c.1182G>A (p.Gln394=) | |
| 12 | g.56004550G>C | CA385291567 | SUOX | c.1161G>C (p.Gln387His) c.*349G>C (n.*349G>C) c.1182G>C (p.Gln394His) | gnomAD v4 |
| 12 | g.56004550G>T | CA385291568 | SUOX | c.1161G>T (p.Gln387His) c.*349G>T (n.*349G>T) c.1182G>T (p.Gln394His) | |
| 12 | g.56004551C>A | CA6621118 | SUOX | c.1162C>A (p.Pro388Thr) c.*350C>A (n.*350C>A) c.1183C>A (p.Pro395Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004551C= | CA2038197931 | SUOX | c.1162C= (p.Pro388=) c.*350C= (n.*350C=) c.1183C= (p.Pro395=) | |
| 12 | g.56004551C>G | CA385291572 | SUOX | c.1162C>G (p.Pro388Ala) c.*350C>G (n.*350C>G) c.1183C>G (p.Pro395Ala) | |
| 12 | g.56004551C>T | CA385291580 | SUOX | c.1162C>T (p.Pro388Ser) c.*350C>T (n.*350C>T) c.1183C>T (p.Pro395Ser) | |
| 12 | g.56004552C>A | CA385291591 | SUOX | c.1163C>A (p.Pro388Gln) c.*351C>A (n.*351C>A) c.1184C>A (p.Pro395Gln) | |
| 12 | g.56004552C>G | CA385291594 | SUOX | c.1163C>G (p.Pro388Arg) c.*351C>G (n.*351C>G) c.1184C>G (p.Pro395Arg) | |
| 12 | g.56004552C>T | CA385291603 | SUOX | c.1163C>T (p.Pro388Leu) c.*351C>T (n.*351C>T) c.1184C>T (p.Pro395Leu) | gnomAD v4 |
| 12 | g.56004553A= | CA2038197932 | SUOX | c.1164A= (p.Pro388=) c.*352A= (n.*352A=) c.1185A= (p.Pro395=) | |
| 12 | g.56004553A>C | CA480366534 | SUOX | c.1164A>C (p.Pro388=) c.*352A>C (n.*352A>C) c.1185A>C (p.Pro395=) | |
| 12 | g.56004553A>G | CA237605285 | SUOX | c.1164A>G (p.Pro388=) c.*352A>G (n.*352A>G) c.1185A>G (p.Pro395=) | dbSNP |
| 12 | g.56004553A>T | CA480366536 | SUOX | c.1164A>T (p.Pro388=) c.*352A>T (n.*352A>T) c.1185A>T (p.Pro395=) | |
| 12 | g.56004554G>A | CA6621119 | SUOX | c.1165G>A (p.Glu389Lys) c.*353G>A (n.*353G>A) c.1186G>A (p.Glu396Lys) | dbSNP ExAC |
| 12 | g.56004554G>C | CA385291617 | SUOX | c.1165G>C (p.Glu389Gln) c.*353G>C (n.*353G>C) c.1186G>C (p.Glu396Gln) | |
| 12 | g.56004554G= | CA2038197933 | SUOX | c.1165G= (p.Glu389=) c.*353G= (n.*353G=) c.1186G= (p.Glu396=) | |
| 12 | g.56004554G>T | CA385291635 | SUOX | c.1165G>T (p.Glu389Ter) c.*353G>T (n.*353G>T) c.1186G>T (p.Glu396Ter) | |
| 12 | g.56004555A>C | CA385291640 | SUOX | c.1166A>C (p.Glu389Ala) c.*354A>C (n.*354A>C) c.1187A>C (p.Glu396Ala) | |
| 12 | g.56004555A>G | CA385291641 | SUOX | c.1166A>G (p.Glu389Gly) c.*354A>G (n.*354A>G) c.1187A>G (p.Glu396Gly) | |
| 12 | g.56004555A>T | CA385291645 | SUOX | c.1166A>T (p.Glu389Val) c.*354A>T (n.*354A>T) c.1187A>T (p.Glu396Val) | |
| 12 | g.56004556G>A | CA480366538 | SUOX | c.1167G>A (p.Glu389=) c.*355G>A (n.*355G>A) c.1188G>A (p.Glu396=) | |
| 12 | g.56004556G>C | CA385291650 | SUOX | c.1167G>C (p.Glu389Asp) c.*355G>C (n.*355G>C) c.1188G>C (p.Glu396Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004556G= | CA2038197934 | SUOX | c.1167G= (p.Glu389=) c.*355G= (n.*355G=) c.1188G= (p.Glu396=) | |
| 12 | g.56004556G>T | CA385291654 | SUOX | c.1167G>T (p.Glu389Asp) c.*355G>T (n.*355G>T) c.1188G>T (p.Glu396Asp) | |
| 12 | g.56004557G>A | CA385291662 | SUOX | c.1168G>A (p.Glu390Lys) c.*356G>A (n.*356G>A) c.1189G>A (p.Glu397Lys) | |
| 12 | g.56004557G>C | CA385291665 | SUOX | c.1168G>C (p.Glu390Gln) c.*356G>C (n.*356G>C) c.1189G>C (p.Glu397Gln) | |
| 12 | g.56004557G>T | CA385291663 | SUOX | c.1168G>T (p.Glu390Ter) c.*356G>T (n.*356G>T) c.1189G>T (p.Glu397Ter) | |
| 12 | g.56004558A>C | CA385291669 | SUOX | c.1169A>C (p.Glu390Ala) c.*357A>C (n.*357A>C) c.1190A>C (p.Glu397Ala) | |
| 12 | g.56004558A>G | CA385291674 | SUOX | c.1169A>G (p.Glu390Gly) c.*357A>G (n.*357A>G) c.1190A>G (p.Glu397Gly) | |
| 12 | g.56004558A>T | CA385291677 | SUOX | c.1169A>T (p.Glu390Val) c.*357A>T (n.*357A>T) c.1190A>T (p.Glu397Val) | |
| 12 | g.56004559A>C | CA385291685 | SUOX | c.1170A>C (p.Glu390Asp) c.*358A>C (n.*358A>C) c.1191A>C (p.Glu397Asp) | |
| 12 | g.56004559A>G | CA480366542 | SUOX | c.1170A>G (p.Glu390=) c.*358A>G (n.*358A>G) c.1191A>G (p.Glu397=) | |
| 12 | g.56004559A>T | CA385291692 | SUOX | c.1170A>T (p.Glu390Asp) c.*358A>T (n.*358A>T) c.1191A>T (p.Glu397Asp) | |
| 12 | g.56004560A>C | CA385291696 | SUOX | c.1171A>C (p.Ser391Arg) c.*359A>C (n.*359A>C) c.1192A>C (p.Ser398Arg) | |
| 12 | g.56004560A>G | CA385291697 | SUOX | c.1171A>G (p.Ser391Gly) c.*359A>G (n.*359A>G) c.1192A>G (p.Ser398Gly) | |
| 12 | g.56004560A>T | CA385291698 | SUOX | c.1171A>T (p.Ser391Cys) c.*359A>T (n.*359A>T) c.1192A>T (p.Ser398Cys) | |
| 12 | g.56004561G>A | CA385291699 | SUOX | c.1172G>A (p.Ser391Asn) c.*360G>A (n.*360G>A) c.1193G>A (p.Ser398Asn) | |
| 12 | g.56004561G>C | CA385291702 | SUOX | c.1172G>C (p.Ser391Thr) c.*360G>C (n.*360G>C) c.1193G>C (p.Ser398Thr) | |
| 12 | g.56004561G>T | CA385291707 | SUOX | c.1172G>T (p.Ser391Ile) c.*360G>T (n.*360G>T) c.1193G>T (p.Ser398Ile) | |
| 12 | g.56004562T>A | CA385291711 | SUOX | c.1173T>A (p.Ser391Arg) c.*361T>A (n.*361T>A) c.1194T>A (p.Ser398Arg) | |
| 12 | g.56004562T>C | CA480366546 | SUOX | c.1173T>C (p.Ser391=) c.*361T>C (n.*361T>C) c.1194T>C (p.Ser398=) | ClinVar gnomAD v4 |
| 12 | g.56004562T>G | CA385291713 | SUOX | c.1173T>G (p.Ser391Arg) c.*361T>G (n.*361T>G) c.1194T>G (p.Ser398Arg) | |
| 12 | g.56004563T>A | CA385291715 | SUOX | c.1174T>A (p.Tyr392Asn) c.*362T>A (n.*362T>A) c.1195T>A (p.Tyr399Asn) | gnomAD v4 |
| 12 | g.56004563T>C | CA237605287 | SUOX | c.1174T>C (p.Tyr392His) c.*362T>C (n.*362T>C) c.1195T>C (p.Tyr399His) | dbSNP gnomAD v4 |
| 12 | g.56004563T>G | CA385291723 | SUOX | c.1174T>G (p.Tyr392Asp) c.*362T>G (n.*362T>G) c.1195T>G (p.Tyr399Asp) | ClinVar dbSNP |
| 12 | g.56004563T= | CA2038197935 | SUOX | c.1174T= (p.Tyr392=) c.*362T= (n.*362T=) c.1195T= (p.Tyr399=) | |
| 12 | g.56004564A= | CA2038197936 | SUOX | c.1175A= (p.Tyr392=) c.*363A= (n.*363A=) c.1196A= (p.Tyr399=) | |
| 12 | g.56004564A>C | CA6621120 | SUOX | c.1175A>C (p.Tyr392Ser) c.*363A>C (n.*363A>C) c.1196A>C (p.Tyr399Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004564A>G | CA6621121 | SUOX | c.1175A>G (p.Tyr392Cys) c.*363A>G (n.*363A>G) c.1196A>G (p.Tyr399Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004564A>T | CA385291740 | SUOX | c.1175A>T (p.Tyr392Phe) c.*363A>T (n.*363A>T) c.1196A>T (p.Tyr399Phe) | |
| 12 | g.56004564dup | CA605401151 | SUOX | c.1175dup (p.Tyr392Ter) c.*363dup (n.*363dup) c.1196dup (p.Tyr399Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004565C>A | CA385291745 | SUOX | c.1176C>A (p.Tyr392Ter) c.*364C>A (n.*364C>A) c.1197C>A (p.Tyr399Ter) | COSMIC |
| 12 | g.56004565C>G | CA385291750 | SUOX | c.1176C>G (p.Tyr392Ter) c.*364C>G (n.*364C>G) c.1197C>G (p.Tyr399Ter) | |
| 12 | g.56004565C>T | CA480366548 | SUOX | c.1176C>T (p.Tyr392=) c.*364C>T (n.*364C>T) c.1197C>T (p.Tyr399=) | gnomAD v4 |
| 12 | g.56004566A= | CA2038197937 | SUOX | c.1177A= (p.Ser393=) c.*365A= (n.*365A=) c.1198A= (p.Ser400=) | |
| 12 | g.56004566A>C | CA385291753 | SUOX | c.1177A>C (p.Ser393Arg) c.*365A>C (n.*365A>C) c.1198A>C (p.Ser400Arg) | |
| 12 | g.56004566A>G | CA6621122 | SUOX | c.1177A>G (p.Ser393Gly) c.*365A>G (n.*365A>G) c.1198A>G (p.Ser400Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004566A>T | CA385291760 | SUOX | c.1177A>T (p.Ser393Cys) c.*365A>T (n.*365A>T) c.1198A>T (p.Ser400Cys) | |
| 12 | g.56004567G>A | CA385291772 | SUOX | c.1178G>A (p.Ser393Asn) c.*366G>A (n.*366G>A) c.1199G>A (p.Ser400Asn) | |
| 12 | g.56004567G>C | CA385291780 | SUOX | c.1178G>C (p.Ser393Thr) c.*366G>C (n.*366G>C) c.1199G>C (p.Ser400Thr) | |
| 12 | g.56004567G>T | CA385291783 | SUOX | c.1178G>T (p.Ser393Ile) c.*366G>T (n.*366G>T) c.1199G>T (p.Ser400Ile) | |
| 12 | g.56004568C>A | CA385291785 | SUOX | c.1179C>A (p.Ser393Arg) c.*367C>A (n.*367C>A) c.1200C>A (p.Ser400Arg) | |
| 12 | g.56004568C>G | CA385291787 | SUOX | c.1179C>G (p.Ser393Arg) c.*367C>G (n.*367C>G) c.1200C>G (p.Ser400Arg) | |
| 12 | g.56004568C>T | CA480366552 | SUOX | c.1179C>T (p.Ser393=) c.*367C>T (n.*367C>T) c.1200C>T (p.Ser400=) | |
| 12 | g.56004569C>A | CA385291792 | SUOX | c.1180C>A (p.His394Asn) c.*368C>A (n.*368C>A) c.1201C>A (p.His401Asn) | |
| 12 | g.56004569C>G | CA385291795 | SUOX | c.1180C>G (p.His394Asp) c.*368C>G (n.*368C>G) c.1201C>G (p.His401Asp) | |
| 12 | g.56004569C>T | CA385291814 | SUOX | c.1180C>T (p.His394Tyr) c.*368C>T (n.*368C>T) c.1201C>T (p.His401Tyr) | |
| 12 | g.56004570A>C | CA385291819 | SUOX | c.1181A>C (p.His394Pro) c.*369A>C (n.*369A>C) c.1202A>C (p.His401Pro) | |
| 12 | g.56004570A>G | CA385291822 | SUOX | c.1181A>G (p.His394Arg) c.*369A>G (n.*369A>G) c.1202A>G (p.His401Arg) | |
| 12 | g.56004570A>T | CA385291823 | SUOX | c.1181A>T (p.His394Leu) c.*369A>T (n.*369A>T) c.1202A>T (p.His401Leu) | |
| 12 | g.56004571C>A | CA385291828 | SUOX | c.1182C>A (p.His394Gln) c.*370C>A (n.*370C>A) c.1203C>A (p.His401Gln) | |
| 12 | g.56004571C= | CA2038197938 | SUOX | c.1182C= (p.His394=) c.*370C= (n.*370C=) c.1203C= (p.His401=) | |
| 12 | g.56004571C>G | CA385291827 | SUOX | c.1182C>G (p.His394Gln) c.*370C>G (n.*370C>G) c.1203C>G (p.His401Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004571C>T | CA480366553 | SUOX | c.1182C>T (p.His394=) c.*370C>T (n.*370C>T) c.1203C>T (p.His401=) | |
| 12 | g.56004572T>A | CA385291829 | SUOX | c.1183T>A (p.Trp395Arg) c.*371T>A (n.*371T>A) c.1204T>A (p.Trp402Arg) | |
| 12 | g.56004572T>C | CA385291832 | SUOX | c.1183T>C (p.Trp395Arg) c.*371T>C (n.*371T>C) c.1204T>C (p.Trp402Arg) | |
| 12 | g.56004572T>G | CA385291838 | SUOX | c.1183T>G (p.Trp395Gly) c.*371T>G (n.*371T>G) c.1204T>G (p.Trp402Gly) | |
| 12 | g.56004573G>A | CA385291844 | SUOX | c.1184G>A (p.Trp395Ter) c.*372G>A (n.*372G>A) c.1205G>A (p.Trp402Ter) | dbSNP |
| 12 | g.56004573G>C | CA385291849 | SUOX | c.1184G>C (p.Trp395Ser) c.*372G>C (n.*372G>C) c.1205G>C (p.Trp402Ser) | |
| 12 | g.56004573G= | CA2038197939 | SUOX | c.1184G= (p.Trp395=) c.*372G= (n.*372G=) c.1205G= (p.Trp402=) | |
| 12 | g.56004573G>T | CA385291856 | SUOX | c.1184G>T (p.Trp395Leu) c.*372G>T (n.*372G>T) c.1205G>T (p.Trp402Leu) | |
| 12 | g.56004574G>A | CA385291859 | SUOX | c.1185G>A (p.Trp395Ter) c.*373G>A (n.*373G>A) c.1206G>A (p.Trp402Ter) | |
| 12 | g.56004574G>C | CA385291866 | SUOX | c.1185G>C (p.Trp395Cys) c.*373G>C (n.*373G>C) c.1206G>C (p.Trp402Cys) | |
| 12 | g.56004574G>T | CA385291863 | SUOX | c.1185G>T (p.Trp395Cys) c.*373G>T (n.*373G>T) c.1206G>T (p.Trp402Cys) | |
| 12 | g.56004575C>A | CA385291875 | SUOX | c.1186C>A (p.Gln396Lys) c.*374C>A (n.*374C>A) c.1207C>A (p.Gln403Lys) | |
| 12 | g.56004575C= | CA2038197940 | SUOX | c.1186C= (p.Gln396=) c.*374C= (n.*374C=) c.1207C= (p.Gln403=) | |
| 12 | g.56004575C>G | CA385291879 | SUOX | c.1186C>G (p.Gln396Glu) c.*374C>G (n.*374C>G) c.1207C>G (p.Gln403Glu) | |
| 12 | g.56004575C>T | CA385291880 | SUOX | c.1186C>T (p.Gln396Ter) c.*374C>T (n.*374C>T) c.1207C>T (p.Gln403Ter) | dbSNP |
| 12 | g.56004576A= | CA2038197941 | SUOX | c.1187A= (p.Gln396=) c.*375A= (n.*375A=) c.1208A= (p.Gln403=) | |
| 12 | g.56004576A>C | CA6621123 | SUOX | c.1187A>C (p.Gln396Pro) c.*375A>C (n.*375A>C) c.1208A>C (p.Gln403Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004576A>G | CA385291884 | SUOX | c.1187A>G (p.Gln396Arg) c.*375A>G (n.*375A>G) c.1208A>G (p.Gln403Arg) | |
| 12 | g.56004576A>T | CA385291889 | SUOX | c.1187A>T (p.Gln396Leu) c.*375A>T (n.*375A>T) c.1208A>T (p.Gln403Leu) | |
| 12 | g.56004577A= | CA2038197942 | SUOX | c.1188A= (p.Gln396=) c.*376A= (n.*376A=) c.1209A= (p.Gln403=) | |
| 12 | g.56004577A>C | CA385291899 | SUOX | c.1188A>C (p.Gln396His) c.*376A>C (n.*376A>C) c.1209A>C (p.Gln403His) | |
| 12 | g.56004577A>G | CA6621124 | SUOX | c.1188A>G (p.Gln396=) c.*376A>G (n.*376A>G) c.1209A>G (p.Gln403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004577A>T | CA385291909 | SUOX | c.1188A>T (p.Gln396His) c.*376A>T (n.*376A>T) c.1209A>T (p.Gln403His) |