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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.56004536_56004540delinsAGAGT | CA2038197925 | SUOX | c.1147_1151delinsAGAGT (p.Arg383=) c.*335_*339delinsAGAGT (n.*335_*339delinsAGAGT) c.1168_1172delinsAGAGT (p.Arg390=) | |
| 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) | |
| 12 | g.56004578C>A | CA237605292 | SUOX | c.1189C>A (p.Arg397=) c.*377C>A (n.*377C>A) c.1210C>A (p.Arg404=) | dbSNP |
| 12 | g.56004578C= | CA2038197943 | SUOX | c.1189C= (p.Arg397=) c.*377C= (n.*377C=) c.1210C= (p.Arg404=) | |
| 12 | g.56004578C>G | CA385291915 | SUOX | c.1189C>G (p.Arg397Gly) c.*377C>G (n.*377C>G) c.1210C>G (p.Arg404Gly) | |
| 12 | g.56004578C>T | CA6621125 | SUOX | c.1189C>T (p.Arg397Trp) c.*377C>T (n.*377C>T) c.1210C>T (p.Arg404Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004579G>A | CA237605294 | SUOX | c.1190G>A (p.Arg397Gln) c.*378G>A (n.*378G>A) c.1211G>A (p.Arg404Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004579G>C | CA385291956 | SUOX | c.1190G>C (p.Arg397Pro) c.*378G>C (n.*378G>C) c.1211G>C (p.Arg404Pro) | |
| 12 | g.56004579G= | CA2038197944 | SUOX | c.1190G= (p.Arg397=) c.*378G= (n.*378G=) c.1211G= (p.Arg404=) | |
| 12 | g.56004579G>T | CA385291962 | SUOX | c.1190G>T (p.Arg397Leu) c.*378G>T (n.*378G>T) c.1211G>T (p.Arg404Leu) | |
| 12 | g.56004580G>A | CA480366563 | SUOX | c.1191G>A (p.Arg397=) c.*379G>A (n.*379G>A) c.1212G>A (p.Arg404=) | |
| 12 | g.56004580G>C | CA480366561 | SUOX | c.1191G>C (p.Arg397=) c.*379G>C (n.*379G>C) c.1212G>C (p.Arg404=) | |
| 12 | g.56004580G>T | CA480366560 | SUOX | c.1191G>T (p.Arg397=) c.*379G>T (n.*379G>T) c.1212G>T (p.Arg404=) | gnomAD v4 |
| 12 | g.56004581C>A | CA480366564 | SUOX | c.1192C>A (p.Arg398=) c.*380C>A (n.*380C>A) c.1213C>A (p.Arg405=) | |
| 12 | g.56004581C= | CA2038197945 | SUOX | c.1192C= (p.Arg398=) c.*380C= (n.*380C=) c.1213C= (p.Arg405=) | |
| 12 | g.56004581C>G | CA385291972 | SUOX | c.1192C>G (p.Arg398Gly) c.*380C>G (n.*380C>G) c.1213C>G (p.Arg405Gly) | |
| 12 | g.56004581C>T | CA6621126 | SUOX | c.1192C>T (p.Arg398Trp) c.*380C>T (n.*380C>T) c.1213C>T (p.Arg405Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004582G>A | CA6621127 | SUOX | c.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 |
| 12 | g.56004582G>C | CA385291982 | SUOX | c.1193G>C (p.Arg398Pro) c.*381G>C (n.*381G>C) c.1214G>C (p.Arg405Pro) | |
| 12 | g.56004582G= | CA2038197946 | SUOX | c.1193G= (p.Arg398=) c.*381G= (n.*381G=) c.1214G= (p.Arg405=) | |
| 12 | g.56004582G>T | CA385291981 | SUOX | c.1193G>T (p.Arg398Leu) c.*381G>T (n.*381G>T) c.1214G>T (p.Arg405Leu) | |
| 12 | g.56004583G>A | CA480366565 | SUOX | c.1194G>A (p.Arg398=) c.*382G>A (n.*382G>A) c.1215G>A (p.Arg405=) | |
| 12 | g.56004583G>C | CA480366567 | SUOX | c.1194G>C (p.Arg398=) c.*382G>C (n.*382G>C) c.1215G>C (p.Arg405=) | |
| 12 | g.56004583G>T | CA480366566 | SUOX | c.1194G>T (p.Arg398=) c.*382G>T (n.*382G>T) c.1215G>T (p.Arg405=) | |
| 12 | g.56004584G>A | CA237605297 | SUOX | c.1195G>A (p.Asp399Asn) c.*383G>A (n.*383G>A) c.1216G>A (p.Asp406Asn) | dbSNP gnomAD v4 |
| 12 | g.56004584G>C | CA385291992 | SUOX | c.1195G>C (p.Asp399His) c.*383G>C (n.*383G>C) c.1216G>C (p.Asp406His) | |
| 12 | g.56004584G= | CA2038197947 | SUOX | c.1195G= (p.Asp399=) c.*383G= (n.*383G=) c.1216G= (p.Asp406=) | |
| 12 | g.56004584G>T | CA237605299 | SUOX | c.1195G>T (p.Asp399Tyr) c.*383G>T (n.*383G>T) c.1216G>T (p.Asp406Tyr) | dbSNP |
| 12 | g.56004585A= | CA2038197948 | SUOX | c.1196A= (p.Asp399=) c.*384A= (n.*384A=) c.1217A= (p.Asp406=) | |
| 12 | g.56004585A>C | CA385292011 | SUOX | c.1196A>C (p.Asp399Ala) c.*384A>C (n.*384A>C) c.1217A>C (p.Asp406Ala) | |
| 12 | g.56004585A>G | CA6621128 | SUOX | c.1196A>G (p.Asp399Gly) c.*384A>G (n.*384A>G) c.1217A>G (p.Asp406Gly) | dbSNP ExAC gnomAD v2 |
| 12 | g.56004585A>T | CA385292018 | SUOX | c.1196A>T (p.Asp399Val) c.*384A>T (n.*384A>T) c.1217A>T (p.Asp406Val) | |
| 12 | g.56004586T>A | CA385292023 | SUOX | c.1197T>A (p.Asp399Glu) c.*385T>A (n.*385T>A) c.1218T>A (p.Asp406Glu) | |
| 12 | g.56004586T>C | CA480366571 | SUOX | c.1197T>C (p.Asp399=) c.*385T>C (n.*385T>C) c.1218T>C (p.Asp406=) | |
| 12 | g.56004586T>G | CA385292024 | SUOX | c.1197T>G (p.Asp399Glu) c.*385T>G (n.*385T>G) c.1218T>G (p.Asp406Glu) | |
| 12 | g.56004587del | CA2619254191 | SUOX | c.1198del (p.Tyr400ThrfsTer13) c.*386del (n.*386del) c.1219del (p.Tyr407ThrfsTer13) | gnomAD v4 |
| 12 | g.56004587T>A | CA385292028 | SUOX | c.1198T>A (p.Tyr400Asn) c.*386T>A (n.*386T>A) c.1219T>A (p.Tyr407Asn) | |
| 12 | g.56004587T>C | CA385292031 | SUOX | c.1198T>C (p.Tyr400His) c.*386T>C (n.*386T>C) c.1219T>C (p.Tyr407His) | |
| 12 | g.56004587T>G | CA385292046 | SUOX | c.1198T>G (p.Tyr400Asp) c.*386T>G (n.*386T>G) c.1219T>G (p.Tyr407Asp) | |
| 12 | g.56004588A>C | CA385292064 | SUOX | c.1199A>C (p.Tyr400Ser) c.*387A>C (n.*387A>C) c.1220A>C (p.Tyr407Ser) | |
| 12 | g.56004588A>G | CA385292055 | SUOX | c.1199A>G (p.Tyr400Cys) c.*387A>G (n.*387A>G) c.1220A>G (p.Tyr407Cys) | |
| 12 | g.56004588A>T | CA385292059 | SUOX | c.1199A>T (p.Tyr400Phe) c.*387A>T (n.*387A>T) c.1220A>T (p.Tyr407Phe) | |
| 12 | g.56004589C>A | CA385292068 | SUOX | c.1200C>A (p.Tyr400Ter) c.*388C>A (n.*388C>A) c.1221C>A (p.Tyr407Ter) | |
| 12 | g.56004589C= | CA2038197949 | SUOX | c.1200C= (p.Tyr400=) c.*388C= (n.*388C=) c.1221C= (p.Tyr407=) | |
| 12 | g.56004589C>G | CA6621129 | SUOX | c.1200C>G (p.Tyr400Ter) c.*388C>G (n.*388C>G) c.1221C>G (p.Tyr407Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004589C>T | CA480366575 | SUOX | c.1200C>T (p.Tyr400=) c.*388C>T (n.*388C>T) c.1221C>T (p.Tyr407=) | |
| 12 | g.56004590A= | CA2038197950 | SUOX | c.1201A= (p.Lys401=) c.*389A= (n.*389A=) c.1222A= (p.Lys408=) | |
| 12 | g.56004590A>C | CA385292073 | SUOX | c.1201A>C (p.Lys401Gln) c.*389A>C (n.*389A>C) c.1222A>C (p.Lys408Gln) | |
| 12 | g.56004590A>G | CA385292076 | SUOX | c.1201A>G (p.Lys401Glu) c.*389A>G (n.*389A>G) c.1222A>G (p.Lys408Glu) | ClinVar dbSNP |
| 12 | g.56004590A>T | CA385292078 | SUOX | c.1201A>T (p.Lys401Ter) c.*389A>T (n.*389A>T) c.1222A>T (p.Lys408Ter) | |
| 12 | g.56004591A= | CA2038197951 | SUOX | c.1202A= (p.Lys401=) c.*390A= (n.*390A=) c.1223A= (p.Lys408=) | |
| 12 | g.56004591A>C | CA385292083 | SUOX | c.1202A>C (p.Lys401Thr) c.*390A>C (n.*390A>C) c.1223A>C (p.Lys408Thr) | |
| 12 | g.56004591A>G | CA6621130 | SUOX | c.1202A>G (p.Lys401Arg) c.*390A>G (n.*390A>G) c.1223A>G (p.Lys408Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004591A>T | CA385292108 | SUOX | c.1202A>T (p.Lys401Ile) c.*390A>T (n.*390A>T) c.1223A>T (p.Lys408Ile) | |
| 12 | g.56004592A>C | CA385292114 | SUOX | c.1203A>C (p.Lys401Asn) c.*391A>C (n.*391A>C) c.1224A>C (p.Lys408Asn) | |
| 12 | g.56004592A>G | CA480366161 | SUOX | c.1203A>G (p.Lys401=) c.*391A>G (n.*391A>G) c.1224A>G (p.Lys408=) | |
| 12 | g.56004592A>T | CA385292115 | SUOX | c.1203A>T (p.Lys401Asn) c.*391A>T (n.*391A>T) c.1224A>T (p.Lys408Asn) | |
| 12 | g.56004593G>A | CA385292129 | SUOX | c.1204G>A (p.Gly402Ser) c.*392G>A (n.*392G>A) c.1225G>A (p.Gly409Ser) | |
| 12 | g.56004593G>C | CA385292132 | SUOX | c.1204G>C (p.Gly402Arg) c.*392G>C (n.*392G>C) c.1225G>C (p.Gly409Arg) | |
| 12 | g.56004593G>T | CA385292121 | SUOX | c.1204G>T (p.Gly402Cys) c.*392G>T (n.*392G>T) c.1225G>T (p.Gly409Cys) | |
| 12 | g.56004594G>A | CA385292136 | SUOX | c.1205G>A (p.Gly402Asp) c.*393G>A (n.*393G>A) c.1226G>A (p.Gly409Asp) | gnomAD v4 |
| 12 | g.56004594G>C | CA385292138 | SUOX | c.1205G>C (p.Gly402Ala) c.*393G>C (n.*393G>C) c.1226G>C (p.Gly409Ala) | |
| 12 | g.56004594G>T | CA385292141 | SUOX | c.1205G>T (p.Gly402Val) c.*393G>T (n.*393G>T) c.1226G>T (p.Gly409Val) | |
| 12 | g.56004595C>A | CA480366163 | SUOX | c.1206C>A (p.Gly402=) c.*394C>A (n.*394C>A) c.1227C>A (p.Gly409=) | |
| 12 | g.56004595C>G | CA480366164 | SUOX | c.1206C>G (p.Gly402=) c.*394C>G (n.*394C>G) c.1227C>G (p.Gly409=) | |
| 12 | g.56004595C>T | CA480366165 | SUOX | c.1206C>T (p.Gly402=) c.*394C>T (n.*394C>T) c.1227C>T (p.Gly409=) | |
| 12 | g.56004596T>A | CA385292150 | SUOX | c.1207T>A (p.Phe403Ile) c.*395T>A (n.*395T>A) c.1228T>A (p.Phe410Ile) | gnomAD v4 |
| 12 | g.56004596T>C | CA385292153 | SUOX | c.1207T>C (p.Phe403Leu) c.*395T>C (n.*395T>C) c.1228T>C (p.Phe410Leu) | |
| 12 | g.56004596T>G | CA385292155 | SUOX | c.1207T>G (p.Phe403Val) c.*395T>G (n.*395T>G) c.1228T>G (p.Phe410Val) | gnomAD v4 |
| 12 | g.56004597T>A | CA385292173 | SUOX | c.1208T>A (p.Phe403Tyr) c.*396T>A (n.*396T>A) c.1229T>A (p.Phe410Tyr) | |
| 12 | g.56004597T>C | CA385292158 | SUOX | c.1208T>C (p.Phe403Ser) c.*396T>C (n.*396T>C) c.1229T>C (p.Phe410Ser) | |
| 12 | g.56004597T>G | CA385292169 | SUOX | c.1208T>G (p.Phe403Cys) c.*396T>G (n.*396T>G) c.1229T>G (p.Phe410Cys) | |
| 12 | g.56004598C>A | CA385292181 | SUOX | c.1209C>A (p.Phe403Leu) c.*397C>A (n.*397C>A) c.1230C>A (p.Phe410Leu) | |
| 12 | g.56004598C= | CA2038197952 | SUOX | c.1209C= (p.Phe403=) c.*397C= (n.*397C=) c.1230C= (p.Phe410=) | |
| 12 | g.56004598C>G | CA385292185 | SUOX | c.1209C>G (p.Phe403Leu) c.*397C>G (n.*397C>G) c.1230C>G (p.Phe410Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004598C>T | CA480366167 | SUOX | c.1209C>T (p.Phe403=) c.*397C>T (n.*397C>T) c.1230C>T (p.Phe410=) | |
| 12 | g.56004599T>A | CA385292190 | SUOX | c.1210T>A (p.Ser404Thr) c.*398T>A (n.*398T>A) c.1231T>A (p.Ser411Thr) | |
| 12 | g.56004599T>C | CA385292193 | SUOX | c.1210T>C (p.Ser404Pro) c.*398T>C (n.*398T>C) c.1231T>C (p.Ser411Pro) | ClinVar dbSNP |
| 12 | g.56004599T>G | CA385292196 | SUOX | c.1210T>G (p.Ser404Ala) c.*398T>G (n.*398T>G) c.1231T>G (p.Ser411Ala) | |
| 12 | g.56004600C>A | CA385292200 | SUOX | c.1211C>A (p.Ser404Tyr) c.*399C>A (n.*399C>A) c.1232C>A (p.Ser411Tyr) | |
| 12 | g.56004600C= | CA2038197953 | SUOX | c.1211C= (p.Ser404=) c.*399C= (n.*399C=) c.1232C= (p.Ser411=) | |
| 12 | g.56004600C>G | CA6621131 | SUOX | c.1211C>G (p.Ser404Cys) c.*399C>G (n.*399C>G) c.1232C>G (p.Ser411Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004600C>T | CA385292208 | SUOX | c.1211C>T (p.Ser404Phe) c.*399C>T (n.*399C>T) c.1232C>T (p.Ser411Phe) | gnomAD v4 |
| 12 | g.56004601T>A | CA480366172 | SUOX | c.1212T>A (p.Ser404=) c.*400T>A (n.*400T>A) c.1233T>A (p.Ser411=) | |
| 12 | g.56004601T>C | CA480366173 | SUOX | c.1212T>C (p.Ser404=) c.*400T>C (n.*400T>C) c.1233T>C (p.Ser411=) | gnomAD v4 |
| 12 | g.56004601T>G | CA480366174 | SUOX | c.1212T>G (p.Ser404=) c.*400T>G (n.*400T>G) c.1233T>G (p.Ser411=) | |
| 12 | g.56004602C>A | CA385292214 | SUOX | c.1213C>A (p.Pro405Thr) c.*401C>A (n.*401C>A) c.1234C>A (p.Pro412Thr) | |
| 12 | g.56004602C>G | CA385292217 | SUOX | c.1213C>G (p.Pro405Ala) c.*401C>G (n.*401C>G) c.1234C>G (p.Pro412Ala) | |
| 12 | g.56004602C>T | CA385292225 | SUOX | c.1213C>T (p.Pro405Ser) c.*401C>T (n.*401C>T) c.1234C>T (p.Pro412Ser) | |
| 12 | g.56004603C>A | CA385292240 | SUOX | c.1214C>A (p.Pro405Gln) c.*402C>A (n.*402C>A) c.1235C>A (p.Pro412Gln) | |
| 12 | g.56004603C>G | CA385292244 | SUOX | c.1214C>G (p.Pro405Arg) c.*402C>G (n.*402C>G) c.1235C>G (p.Pro412Arg) | |
| 12 | g.56004603C>T | CA385292253 | SUOX | c.1214C>T (p.Pro405Leu) c.*402C>T (n.*402C>T) c.1235C>T (p.Pro412Leu) | |
| 12 | g.56004604A>C | CA480366180 | SUOX | c.1215A>C (p.Pro405=) c.*403A>C (n.*403A>C) c.1236A>C (p.Pro412=) | |
| 12 | g.56004604A>G | CA480366179 | SUOX | c.1215A>G (p.Pro405=) c.*403A>G (n.*403A>G) c.1236A>G (p.Pro412=) | gnomAD v4 |
| 12 | g.56004604A>T | CA480366178 | SUOX | c.1215A>T (p.Pro405=) c.*403A>T (n.*403A>T) c.1236A>T (p.Pro412=) | |
| 12 | g.56004605T>A | CA385292259 | SUOX | c.1216T>A (p.Ser406Thr) c.*404T>A (n.*404T>A) c.1237T>A (p.Ser413Thr) | |
| 12 | g.56004605T>C | CA385292261 | SUOX | c.1216T>C (p.Ser406Pro) c.*404T>C (n.*404T>C) c.1237T>C (p.Ser413Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004605T>G | CA385292262 | SUOX | c.1216T>G (p.Ser406Ala) c.*404T>G (n.*404T>G) c.1237T>G (p.Ser413Ala) | |
| 12 | g.56004605T= | CA2038197954 | SUOX | c.1216T= (p.Ser406=) c.*404T= (n.*404T=) c.1237T= (p.Ser413=) | |
| 12 | g.56004606C>A | CA385292267 | SUOX | c.1217C>A (p.Ser406Tyr) c.*405C>A (n.*405C>A) c.1238C>A (p.Ser413Tyr) | |
| 12 | g.56004606C>G | CA385292269 | SUOX | c.1217C>G (p.Ser406Cys) c.*405C>G (n.*405C>G) c.1238C>G (p.Ser413Cys) | |
| 12 | g.56004606C>T | CA385292272 | SUOX | c.1217C>T (p.Ser406Phe) c.*405C>T (n.*405C>T) c.1238C>T (p.Ser413Phe) | gnomAD v4 |
| 12 | g.56004607T>A | CA480366182 | SUOX | c.1218T>A (p.Ser406=) c.*406T>A (n.*406T>A) c.1239T>A (p.Ser413=) | |
| 12 | g.56004607T>C | CA480366183 | SUOX | c.1218T>C (p.Ser406=) c.*406T>C (n.*406T>C) c.1239T>C (p.Ser413=) | ClinVar gnomAD v4 |
| 12 | g.56004607T>G | CA480366184 | SUOX | c.1218T>G (p.Ser406=) c.*406T>G (n.*406T>G) c.1239T>G (p.Ser413=) | |
| 12 | g.56004608G>A | CA385292286 | SUOX | c.1219G>A (p.Val407Met) c.*407G>A (n.*407G>A) c.1240G>A (p.Val414Met) | |
| 12 | g.56004608G>C | CA385292281 | SUOX | c.1219G>C (p.Val407Leu) c.*407G>C (n.*407G>C) c.1240G>C (p.Val414Leu) | |
| 12 | g.56004608G>T | CA385292277 | SUOX | c.1219G>T (p.Val407Leu) c.*407G>T (n.*407G>T) c.1240G>T (p.Val414Leu) | |
| 12 | g.56004609T>A | CA385292299 | SUOX | c.1220T>A (p.Val407Glu) c.*408T>A (n.*408T>A) c.1241T>A (p.Val414Glu) | |
| 12 | g.56004609T>C | CA385292294 | SUOX | c.1220T>C (p.Val407Ala) c.*408T>C (n.*408T>C) c.1241T>C (p.Val414Ala) | |
| 12 | g.56004609T>G | CA385292296 | SUOX | c.1220T>G (p.Val407Gly) c.*408T>G (n.*408T>G) c.1241T>G (p.Val414Gly) | |
| 12 | g.56004610G>A | CA480366188 | SUOX | c.1221G>A (p.Val407=) c.*409G>A (n.*409G>A) c.1242G>A (p.Val414=) | gnomAD v4 COSMIC |
| 12 | g.56004610G>C | CA480366190 | SUOX | c.1221G>C (p.Val407=) c.*409G>C (n.*409G>C) c.1242G>C (p.Val414=) | |
| 12 | g.56004610G>T | CA480366189 | SUOX | c.1221G>T (p.Val407=) c.*409G>T (n.*409G>T) c.1242G>T (p.Val414=) | |
| 12 | g.56004611G>A | CA385292303 | SUOX | c.1222G>A (p.Asp408Asn) c.*410G>A (n.*410G>A) c.1243G>A (p.Asp415Asn) | gnomAD v4 |
| 12 | g.56004611G>C | CA385292310 | SUOX | c.1222G>C (p.Asp408His) c.*410G>C (n.*410G>C) c.1243G>C (p.Asp415His) | gnomAD v4 |
| 12 | g.56004611G>T | CA385292313 | SUOX | c.1222G>T (p.Asp408Tyr) c.*410G>T (n.*410G>T) c.1243G>T (p.Asp415Tyr) | |
| 12 | g.56004612A>C | CA385292316 | SUOX | c.1223A>C (p.Asp408Ala) c.*411A>C (n.*411A>C) c.1244A>C (p.Asp415Ala) | |
| 12 | g.56004612A>G | CA385292319 | SUOX | c.1223A>G (p.Asp408Gly) c.*411A>G (n.*411A>G) c.1244A>G (p.Asp415Gly) | |
| 12 | g.56004612A>T | CA385292322 | SUOX | c.1223A>T (p.Asp408Val) c.*411A>T (n.*411A>T) c.1244A>T (p.Asp415Val) | gnomAD v4 |
| 12 | g.56004613C>A | CA385292328 | SUOX | c.1224C>A (p.Asp408Glu) c.*412C>A (n.*412C>A) c.1245C>A (p.Asp415Glu) | |
| 12 | g.56004613C>G | CA385292333 | SUOX | c.1224C>G (p.Asp408Glu) c.*412C>G (n.*412C>G) c.1245C>G (p.Asp415Glu) | |
| 12 | g.56004613C>T | CA480366195 | SUOX | c.1224C>T (p.Asp408=) c.*412C>T (n.*412C>T) c.1245C>T (p.Asp415=) | ClinVar |
| 12 | g.56004614T>A | CA385292342 | SUOX | c.1225T>A (p.Trp409Arg) c.*413T>A (n.*413T>A) c.1246T>A (p.Trp416Arg) | |
| 12 | g.56004614T>C | CA385292346 | SUOX | c.1225T>C (p.Trp409Arg) c.*413T>C (n.*413T>C) c.1246T>C (p.Trp416Arg) | gnomAD v4 |
| 12 | g.56004614T>G | CA385292355 | SUOX | c.1225T>G (p.Trp409Gly) c.*413T>G (n.*413T>G) c.1246T>G (p.Trp416Gly) | |
| 12 | g.56004615G>A | CA6621132 | SUOX | c.1226G>A (p.Trp409Ter) c.*414G>A (n.*414G>A) c.1247G>A (p.Trp416Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004615G>C | CA385292362 | SUOX | c.1226G>C (p.Trp409Ser) c.*414G>C (n.*414G>C) c.1247G>C (p.Trp416Ser) | |
| 12 | g.56004615G= | CA2038197955 | SUOX | c.1226G= (p.Trp409=) c.*414G= (n.*414G=) c.1247G= (p.Trp416=) | |
| 12 | g.56004615G>T | CA385292358 | SUOX | c.1226G>T (p.Trp409Leu) c.*414G>T (n.*414G>T) c.1247G>T (p.Trp416Leu) | |
| 12 | g.56004616G>A | CA385292366 | SUOX | c.1227G>A (p.Trp409Ter) c.*415G>A (n.*415G>A) c.1248G>A (p.Trp416Ter) | |
| 12 | g.56004616G>C | CA385292367 | SUOX | c.1227G>C (p.Trp409Cys) c.*415G>C (n.*415G>C) c.1248G>C (p.Trp416Cys) | |
| 12 | g.56004616G>T | CA385292395 | SUOX | c.1227G>T (p.Trp409Cys) c.*415G>T (n.*415G>T) c.1248G>T (p.Trp416Cys) | |
| 12 | g.56004617G>A | CA6621133 | SUOX | c.1228G>A (p.Glu410Lys) c.*416G>A (n.*416G>A) c.1249G>A (p.Glu417Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004617G>C | CA385292400 | SUOX | c.1228G>C (p.Glu410Gln) c.*416G>C (n.*416G>C) c.1249G>C (p.Glu417Gln) | |
| 12 | g.56004617G= | CA2038197956 | SUOX | c.1228G= (p.Glu410=) c.*416G= (n.*416G=) c.1249G= (p.Glu417=) | |
| 12 | g.56004617G>T | CA385292401 | SUOX | c.1228G>T (p.Glu410Ter) c.*416G>T (n.*416G>T) c.1249G>T (p.Glu417Ter) | |
| 12 | g.56004618A>C | CA385292405 | SUOX | c.1229A>C (p.Glu410Ala) c.*417A>C (n.*417A>C) c.1250A>C (p.Glu417Ala) | |
| 12 | g.56004618A>G | CA385292406 | SUOX | c.1229A>G (p.Glu410Gly) c.*417A>G (n.*417A>G) c.1250A>G (p.Glu417Gly) | |
| 12 | g.56004618A>T | CA385292407 | SUOX | c.1229A>T (p.Glu410Val) c.*417A>T (n.*417A>T) c.1250A>T (p.Glu417Val) | |
| 12 | g.56004619G>A | CA480366204 | SUOX | c.1230G>A (p.Glu410=) c.*418G>A (n.*418G>A) c.1251G>A (p.Glu417=) | |
| 12 | g.56004619G>C | CA6621134 | SUOX | c.1230G>C (p.Glu410Asp) c.*418G>C (n.*418G>C) c.1251G>C (p.Glu417Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004619G= | CA2038197957 | SUOX | c.1230G= (p.Glu410=) c.*418G= (n.*418G=) c.1251G= (p.Glu417=) | |
| 12 | g.56004619G>T | CA385292416 | SUOX | c.1230G>T (p.Glu410Asp) c.*418G>T (n.*418G>T) c.1251G>T (p.Glu417Asp) | |
| 12 | g.56004620A>C | CA385292432 | SUOX | c.1231A>C (p.Thr411Pro) c.*419A>C (n.*419A>C) c.1252A>C (p.Thr418Pro) | |
| 12 | g.56004620A>G | CA385292440 | SUOX | c.1231A>G (p.Thr411Ala) c.*419A>G (n.*419A>G) c.1252A>G (p.Thr418Ala) | gnomAD v4 |
| 12 | g.56004620A>T | CA385292447 | SUOX | c.1231A>T (p.Thr411Ser) c.*419A>T (n.*419A>T) c.1252A>T (p.Thr418Ser) | |
| 12 | g.56004621C>A | CA385292459 | SUOX | c.1232C>A (p.Thr411Asn) c.*420C>A (n.*420C>A) c.1253C>A (p.Thr418Asn) | |
| 12 | g.56004621C>G | CA385292462 | SUOX | c.1232C>G (p.Thr411Ser) c.*420C>G (n.*420C>G) c.1253C>G (p.Thr418Ser) | |
| 12 | g.56004621C>T | CA385292458 | SUOX | c.1232C>T (p.Thr411Ile) c.*420C>T (n.*420C>T) c.1253C>T (p.Thr418Ile) | |
| 12 | g.56004622T>A | CA480366209 | SUOX | c.1233T>A (p.Thr411=) c.*421T>A (n.*421T>A) c.1254T>A (p.Thr418=) | |
| 12 | g.56004622T>C | CA480366211 | SUOX | c.1233T>C (p.Thr411=) c.*421T>C (n.*421T>C) c.1254T>C (p.Thr418=) | |
| 12 | g.56004622T>G | CA480366212 | SUOX | c.1233T>G (p.Thr411=) c.*421T>G (n.*421T>G) c.1254T>G (p.Thr418=) | |
| 12 | g.56004623_56004624del | CA2523469075 | SUOX | c.1234_1235del (p.Val412ArgfsTer3) c.*422_*423del (n.*422_*423del) c.1255_1256del (p.Val419ArgfsTer3) | gnomAD v4 |
| 12 | g.56004623G>A | CA237605303 | SUOX | c.1234G>A (p.Val412Ile) c.*422G>A (n.*422G>A) c.1255G>A (p.Val419Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004623G>C | CA385292468 | SUOX | c.1234G>C (p.Val412Leu) c.*422G>C (n.*422G>C) c.1255G>C (p.Val419Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004623G= | CA2038197958 | SUOX | c.1234G= (p.Val412=) c.*422G= (n.*422G=) c.1255G= (p.Val419=) | |
| 12 | g.56004623G>T | CA385292476 | SUOX | c.1234G>T (p.Val412Leu) c.*422G>T (n.*422G>T) c.1255G>T (p.Val419Leu) | |
| 12 | g.56004624T>A | CA385292480 | SUOX | c.1235T>A (p.Val412Glu) c.*423T>A (n.*423T>A) c.1256T>A (p.Val419Glu) | |
| 12 | g.56004624T>C | CA385292484 | SUOX | c.1235T>C (p.Val412Ala) c.*423T>C (n.*423T>C) c.1256T>C (p.Val419Ala) | |
| 12 | g.56004624T>G | CA385292487 | SUOX | c.1235T>G (p.Val412Gly) c.*423T>G (n.*423T>G) c.1256T>G (p.Val419Gly) | gnomAD v4 |
| 12 | g.56004625A>C | CA480366215 | SUOX | c.1236A>C (p.Val412=) c.*424A>C (n.*424A>C) c.1257A>C (p.Val419=) | |
| 12 | g.56004625A>G | CA480366213 | SUOX | c.1236A>G (p.Val412=) c.*424A>G (n.*424A>G) c.1257A>G (p.Val419=) | |
| 12 | g.56004625A>T | CA480366214 | SUOX | c.1236A>T (p.Val412=) c.*424A>T (n.*424A>T) c.1257A>T (p.Val419=) | |
| 12 | g.56004626G>A | CA385292491 | SUOX | c.1237G>A (p.Asp413Asn) c.*425G>A (n.*425G>A) c.1258G>A (p.Asp420Asn) | gnomAD v4 |
| 12 | g.56004626G>C | CA385292488 | SUOX | c.1237G>C (p.Asp413His) c.*425G>C (n.*425G>C) c.1258G>C (p.Asp420His) | gnomAD v4 |
| 12 | g.56004626G>T | CA385292490 | SUOX | c.1237G>T (p.Asp413Tyr) c.*425G>T (n.*425G>T) c.1258G>T (p.Asp420Tyr) | |
| 12 | g.56004627A>C | CA385292494 | SUOX | c.1238A>C (p.Asp413Ala) c.*426A>C (n.*426A>C) c.1259A>C (p.Asp420Ala) | |
| 12 | g.56004627A>G | CA385292498 | SUOX | c.1238A>G (p.Asp413Gly) c.*426A>G (n.*426A>G) c.1259A>G (p.Asp420Gly) | gnomAD v4 |
| 12 | g.56004627A>T | CA385292501 | SUOX | c.1238A>T (p.Asp413Val) c.*426A>T (n.*426A>T) c.1259A>T (p.Asp420Val) | |
| 12 | g.56004628T>A | CA385292504 | SUOX | c.1239T>A (p.Asp413Glu) c.*427T>A (n.*427T>A) c.1260T>A (p.Asp420Glu) | |
| 12 | g.56004628T>C | CA480366220 | SUOX | c.1239T>C (p.Asp413=) c.*427T>C (n.*427T>C) c.1260T>C (p.Asp420=) | |
| 12 | g.56004628T>G | CA385292506 | SUOX | c.1239T>G (p.Asp413Glu) c.*427T>G (n.*427T>G) c.1260T>G (p.Asp420Glu) | gnomAD v4 |
| 12 | g.56004629T>A | CA385292508 | SUOX | c.1240T>A (p.Phe414Ile) c.*428T>A (n.*428T>A) c.1261T>A (p.Phe421Ile) | |
| 12 | g.56004629T>C | CA385292513 | SUOX | c.1240T>C (p.Phe414Leu) c.*428T>C (n.*428T>C) c.1261T>C (p.Phe421Leu) | |
| 12 | g.56004629T>G | CA385292511 | SUOX | c.1240T>G (p.Phe414Val) c.*428T>G (n.*428T>G) c.1261T>G (p.Phe421Val) | |
| 12 | g.56004630T>A | CA385292516 | SUOX | c.1241T>A (p.Phe414Tyr) c.*429T>A (n.*429T>A) c.1262T>A (p.Phe421Tyr) | |
| 12 | g.56004630T>C | CA385292517 | SUOX | c.1241T>C (p.Phe414Ser) c.*429T>C (n.*429T>C) c.1262T>C (p.Phe421Ser) | |
| 12 | g.56004630T>G | CA385292518 | SUOX | c.1241T>G (p.Phe414Cys) c.*429T>G (n.*429T>G) c.1262T>G (p.Phe421Cys) | |
| 12 | g.56004631T>A | CA385292519 | SUOX | c.1242T>A (p.Phe414Leu) c.*430T>A (n.*430T>A) c.1263T>A (p.Phe421Leu) | |
| 12 | g.56004631T>C | CA480366227 | SUOX | c.1242T>C (p.Phe414=) c.*430T>C (n.*430T>C) c.1263T>C (p.Phe421=) | |
| 12 | g.56004631T>G | CA385292521 | SUOX | c.1242T>G (p.Phe414Leu) c.*430T>G (n.*430T>G) c.1263T>G (p.Phe421Leu) | |
| 12 | g.56004632G>A | CA385292528 | SUOX | c.1243G>A (p.Asp415Asn) c.*431G>A (n.*431G>A) c.1264G>A (p.Asp422Asn) | ClinVar dbSNP |
| 12 | g.56004632G>C | CA385292531 | SUOX | c.1243G>C (p.Asp415His) c.*431G>C (n.*431G>C) c.1264G>C (p.Asp422His) | |
| 12 | g.56004632G= | CA2038197959 | SUOX | c.1243G= (p.Asp415=) c.*431G= (n.*431G=) c.1264G= (p.Asp422=) | |
| 12 | g.56004632G>T | CA385292532 | SUOX | c.1243G>T (p.Asp415Tyr) c.*431G>T (n.*431G>T) c.1264G>T (p.Asp422Tyr) | |
| 12 | g.56004633A= | CA2038197960 | SUOX | c.1244A= (p.Asp415=) c.*432A= (n.*432A=) c.1265A= (p.Asp422=) | |
| 12 | g.56004633A>C | CA385292533 | SUOX | c.1244A>C (p.Asp415Ala) c.*432A>C (n.*432A>C) c.1265A>C (p.Asp422Ala) | dbSNP |
| 12 | g.56004633A>G | CA385292536 | SUOX | c.1244A>G (p.Asp415Gly) c.*432A>G (n.*432A>G) c.1265A>G (p.Asp422Gly) | |
| 12 | g.56004633A>T | CA385292543 | SUOX | c.1244A>T (p.Asp415Val) c.*432A>T (n.*432A>T) c.1265A>T (p.Asp422Val) | gnomAD v4 |
| 12 | g.56004634C>A | CA385292552 | SUOX | c.1245C>A (p.Asp415Glu) c.*433C>A (n.*433C>A) c.1266C>A (p.Asp422Glu) | |
| 12 | g.56004634C= | CA2038197961 | SUOX | c.1245C= (p.Asp415=) c.*433C= (n.*433C=) c.1266C= (p.Asp422=) | |
| 12 | g.56004634C>G | CA385292549 | SUOX | c.1245C>G (p.Asp415Glu) c.*433C>G (n.*433C>G) c.1266C>G (p.Asp422Glu) | |
| 12 | g.56004634C>T | CA6621135 | SUOX | c.1245C>T (p.Asp415=) c.*433C>T (n.*433C>T) c.1266C>T (p.Asp422=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004635T>A | CA385292556 | SUOX | c.1246T>A (p.Ser416Thr) c.*434T>A (n.*434T>A) c.1267T>A (p.Ser423Thr) | |
| 12 | g.56004635T>C | CA385292560 | SUOX | c.1246T>C (p.Ser416Pro) c.*434T>C (n.*434T>C) c.1267T>C (p.Ser423Pro) | dbSNP |
| 12 | g.56004635T>G | CA385292559 | SUOX | c.1246T>G (p.Ser416Ala) c.*434T>G (n.*434T>G) c.1267T>G (p.Ser423Ala) | |
| 12 | g.56004635T= | CA2038197962 | SUOX | c.1246T= (p.Ser416=) c.*434T= (n.*434T=) c.1267T= (p.Ser423=) | |
| 12 | g.56004636C>A | CA385292561 | SUOX | c.1247C>A (p.Ser416Tyr) c.*435C>A (n.*435C>A) c.1268C>A (p.Ser423Tyr) | |
| 12 | g.56004636C= | CA2038197963 | SUOX | c.1247C= (p.Ser416=) c.*435C= (n.*435C=) c.1268C= (p.Ser423=) | |
| 12 | g.56004636C>G | CA385292563 | SUOX | c.1247C>G (p.Ser416Cys) c.*435C>G (n.*435C>G) c.1268C>G (p.Ser423Cys) | |
| 12 | g.56004636C>T | CA10642061 | SUOX | c.1247C>T (p.Ser416Phe) c.*435C>T (n.*435C>T) c.1268C>T (p.Ser423Phe) | ClinVar dbSNP |
| 12 | g.56004637T>A | CA480366233 | SUOX | c.1248T>A (p.Ser416=) c.*436T>A (n.*436T>A) c.1269T>A (p.Ser423=) | |
| 12 | g.56004637T>C | CA6621136 | SUOX | c.1248T>C (p.Ser416=) c.*436T>C (n.*436T>C) c.1269T>C (p.Ser423=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004637T>G | CA480366234 | SUOX | c.1248T>G (p.Ser416=) c.*436T>G (n.*436T>G) c.1269T>G (p.Ser423=) | |
| 12 | g.56004637T= | CA2038197964 | SUOX | c.1248T= (p.Ser416=) c.*436T= (n.*436T=) c.1269T= (p.Ser423=) |