| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.20348223C>A | CA394983645 | UMOD | c.973G>T (p.Asp325Tyr) c.1072G>T (p.Asp358Tyr) c.1120G>T (p.Asp374Tyr) c.1057G>T (p.Asp353Tyr) n.1198G>T | |
| 16 | g.20348223C>G | CA394983644 | UMOD | c.973G>C (p.Asp325His) c.1072G>C (p.Asp358His) c.1120G>C (p.Asp374His) c.1057G>C (p.Asp353His) n.1198G>C | |
| 16 | g.20348223C>T | CA394983643 | UMOD | c.973G>A (p.Asp325Asn) c.1072G>A (p.Asp358Asn) c.1120G>A (p.Asp374Asn) c.1057G>A (p.Asp353Asn) n.1198G>A | |
| 16 | g.20348224A>C | CA494096801 | UMOD | c.972T>G (p.Thr324=) c.1071T>G (p.Thr357=) c.1119T>G (p.Thr373=) c.1056T>G (p.Thr352=) n.1197T>G | gnomAD v4 |
| 16 | g.20348224A>G | CA494096802 | UMOD | c.972T>C (p.Thr324=) c.1071T>C (p.Thr357=) c.1119T>C (p.Thr373=) c.1056T>C (p.Thr352=) n.1197T>C | gnomAD v4 |
| 16 | g.20348224A>T | CA494096803 | UMOD | c.972T>A (p.Thr324=) c.1071T>A (p.Thr357=) c.1119T>A (p.Thr373=) c.1056T>A (p.Thr352=) n.1197T>A | |
| 16 | g.20348225G>A | CA279299257 | UMOD | c.971C>T (p.Thr324Ile) c.1070C>T (p.Thr357Ile) c.1118C>T (p.Thr373Ile) c.1055C>T (p.Thr352Ile) n.1196C>T | dbSNP |
| 16 | g.20348225G>C | CA394983647 | UMOD | c.971C>G (p.Thr324Ser) c.1070C>G (p.Thr357Ser) c.1118C>G (p.Thr373Ser) c.1055C>G (p.Thr352Ser) n.1196C>G | COSMIC COSMIC |
| 16 | g.20348225G= | CA2211941208 | UMOD | c.971C= (p.Thr324=) c.1070C= (p.Thr357=) c.1118C= (p.Thr373=) c.1055C= (p.Thr352=) n.1196C= | |
| 16 | g.20348225G>T | CA394983646 | UMOD | c.971C>A (p.Thr324Asn) c.1070C>A (p.Thr357Asn) c.1118C>A (p.Thr373Asn) c.1055C>A (p.Thr352Asn) n.1196C>A | |
| 16 | g.20348226T>A | CA394983648 | UMOD | c.970A>T (p.Thr324Ser) c.1069A>T (p.Thr357Ser) c.1117A>T (p.Thr373Ser) c.1054A>T (p.Thr352Ser) n.1195A>T | |
| 16 | g.20348226T>C | CA7939350 | UMOD | c.970A>G (p.Thr324Ala) c.1069A>G (p.Thr357Ala) c.1117A>G (p.Thr373Ala) c.1054A>G (p.Thr352Ala) n.1195A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.20348226T>G | CA394983649 | UMOD | c.970A>C (p.Thr324Pro) c.1069A>C (p.Thr357Pro) c.1117A>C (p.Thr373Pro) c.1054A>C (p.Thr352Pro) n.1195A>C | |
| 16 | g.20348226T= | CA2211941211 | UMOD | c.970A= (p.Thr324=) c.1069A= (p.Thr357=) c.1117A= (p.Thr373=) c.1054A= (p.Thr352=) n.1195A= | |
| 16 | g.20348227G>A | CA494096804 | UMOD | c.969C>T (p.Ile323=) c.1068C>T (p.Ile356=) c.1116C>T (p.Ile372=) c.1053C>T (p.Ile351=) n.1194C>T | dbSNP gnomAD v4 |
| 16 | g.20348227G>C | CA394983650 | UMOD | c.969C>G (p.Ile323Met) c.1068C>G (p.Ile356Met) c.1116C>G (p.Ile372Met) c.1053C>G (p.Ile351Met) n.1194C>G | |
| 16 | g.20348227G= | CA2211941214 | UMOD | c.969C= (p.Ile323=) c.1068C= (p.Ile356=) c.1116C= (p.Ile372=) c.1053C= (p.Ile351=) n.1194C= | |
| 16 | g.20348227G>T | CA494096805 | UMOD | c.969C>A (p.Ile323=) c.1068C>A (p.Ile356=) c.1116C>A (p.Ile372=) c.1053C>A (p.Ile351=) n.1194C>A | |
| 16 | g.20348228A>C | CA394983651 | UMOD | c.968T>G (p.Ile323Ser) c.1067T>G (p.Ile356Ser) c.1115T>G (p.Ile372Ser) c.1052T>G (p.Ile351Ser) n.1193T>G | |
| 16 | g.20348228A>G | CA394983652 | UMOD | c.968T>C (p.Ile323Thr) c.1067T>C (p.Ile356Thr) c.1115T>C (p.Ile372Thr) c.1052T>C (p.Ile351Thr) n.1193T>C | |
| 16 | g.20348228A>T | CA394983653 | UMOD | c.968T>A (p.Ile323Asn) c.1067T>A (p.Ile356Asn) c.1115T>A (p.Ile372Asn) c.1052T>A (p.Ile351Asn) n.1193T>A | |
| 16 | g.20348229T>A | CA394983654 | UMOD | c.967A>T (p.Ile323Phe) c.1066A>T (p.Ile356Phe) c.1114A>T (p.Ile372Phe) c.1051A>T (p.Ile351Phe) n.1192A>T | |
| 16 | g.20348229T>C | CA394983655 | UMOD | c.967A>G (p.Ile323Val) c.1066A>G (p.Ile356Val) c.1114A>G (p.Ile372Val) c.1051A>G (p.Ile351Val) n.1192A>G | |
| 16 | g.20348229T>G | CA394983656 | UMOD | c.967A>C (p.Ile323Leu) c.1066A>C (p.Ile356Leu) c.1114A>C (p.Ile372Leu) c.1051A>C (p.Ile351Leu) n.1192A>C | |
| 16 | g.20348230G>A | CA494096806 | UMOD | c.966C>T (p.Asn322=) c.1065C>T (p.Asn355=) c.1113C>T (p.Asn371=) c.1050C>T (p.Asn350=) n.1191C>T | |
| 16 | g.20348230G>C | CA7939351 | UMOD | c.966C>G (p.Asn322Lys) c.1065C>G (p.Asn355Lys) c.1113C>G (p.Asn371Lys) c.1050C>G (p.Asn350Lys) n.1191C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.20348230G= | CA2211941217 | UMOD | c.966C= (p.Asn322=) c.1065C= (p.Asn355=) c.1113C= (p.Asn371=) c.1050C= (p.Asn350=) n.1191C= | |
| 16 | g.20348230G>T | CA394983657 | UMOD | c.966C>A (p.Asn322Lys) c.1065C>A (p.Asn355Lys) c.1113C>A (p.Asn371Lys) c.1050C>A (p.Asn350Lys) n.1191C>A | |
| 16 | g.20348231T>A | CA394983658 | UMOD | c.965A>T (p.Asn322Ile) c.1064A>T (p.Asn355Ile) c.1112A>T (p.Asn371Ile) c.1049A>T (p.Asn350Ile) n.1190A>T | |
| 16 | g.20348231T>C | CA7939352 | UMOD | c.965A>G (p.Asn322Ser) c.1064A>G (p.Asn355Ser) c.1112A>G (p.Asn371Ser) c.1049A>G (p.Asn350Ser) n.1190A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.20348231T>G | CA394983659 | UMOD | c.965A>C (p.Asn322Thr) c.1064A>C (p.Asn355Thr) c.1112A>C (p.Asn371Thr) c.1049A>C (p.Asn350Thr) n.1190A>C | |
| 16 | g.20348231T= | CA2211941222 | UMOD | c.965A= (p.Asn322=) c.1064A= (p.Asn355=) c.1112A= (p.Asn371=) c.1049A= (p.Asn350=) n.1190A= | |
| 16 | g.20348232T>A | CA394983662 | UMOD | c.964A>T (p.Asn322Tyr) c.1063A>T (p.Asn355Tyr) c.1111A>T (p.Asn371Tyr) c.1048A>T (p.Asn350Tyr) n.1189A>T | |
| 16 | g.20348232T>C | CA394983660 | UMOD | c.964A>G (p.Asn322Asp) c.1063A>G (p.Asn355Asp) c.1111A>G (p.Asn371Asp) c.1048A>G (p.Asn350Asp) n.1189A>G | |
| 16 | g.20348232T>G | CA394983661 | UMOD | c.964A>C (p.Asn322His) c.1063A>C (p.Asn355His) c.1111A>C (p.Asn371His) c.1048A>C (p.Asn350His) n.1189A>C | |
| 16 | g.20348233G>A | CA494096807 | UMOD | c.963C>T (p.Phe321=) c.1062C>T (p.Phe354=) c.1110C>T (p.Phe370=) c.1047C>T (p.Phe349=) n.1188C>T | |
| 16 | g.20348233G>C | CA394983663 | UMOD | c.963C>G (p.Phe321Leu) c.1062C>G (p.Phe354Leu) c.1110C>G (p.Phe370Leu) c.1047C>G (p.Phe349Leu) n.1188C>G | |
| 16 | g.20348233G>T | CA394983664 | UMOD | c.963C>A (p.Phe321Leu) c.1062C>A (p.Phe354Leu) c.1110C>A (p.Phe370Leu) c.1047C>A (p.Phe349Leu) n.1188C>A | |
| 16 | g.20348234A>C | CA394983665 | UMOD | c.962T>G (p.Phe321Cys) c.1061T>G (p.Phe354Cys) c.1109T>G (p.Phe370Cys) c.1046T>G (p.Phe349Cys) n.1187T>G | |
| 16 | g.20348234A>G | CA394983666 | UMOD | c.962T>C (p.Phe321Ser) c.1061T>C (p.Phe354Ser) c.1109T>C (p.Phe370Ser) c.1046T>C (p.Phe349Ser) n.1187T>C | |
| 16 | g.20348234A>T | CA394983667 | UMOD | c.962T>A (p.Phe321Tyr) c.1061T>A (p.Phe354Tyr) c.1109T>A (p.Phe370Tyr) c.1046T>A (p.Phe349Tyr) n.1187T>A | |
| 16 | g.20348235A>C | CA394983668 | UMOD | c.961T>G (p.Phe321Val) c.1060T>G (p.Phe354Val) c.1108T>G (p.Phe370Val) c.1045T>G (p.Phe349Val) n.1186T>G | |
| 16 | g.20348235A>G | CA394983669 | UMOD | c.961T>C (p.Phe321Leu) c.1060T>C (p.Phe354Leu) c.1108T>C (p.Phe370Leu) c.1045T>C (p.Phe349Leu) n.1186T>C | |
| 16 | g.20348235A>T | CA394983670 | UMOD | c.961T>A (p.Phe321Ile) c.1060T>A (p.Phe354Ile) c.1108T>A (p.Phe370Ile) c.1045T>A (p.Phe349Ile) n.1186T>A | |
| 16 | g.20348236G>A | CA494096808 | UMOD | c.960C>T (p.Asp320=) c.1059C>T (p.Asp353=) c.1107C>T (p.Asp369=) c.1044C>T (p.Asp348=) n.1185C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.20348236G>C | CA394983671 | UMOD | c.960C>G (p.Asp320Glu) c.1059C>G (p.Asp353Glu) c.1107C>G (p.Asp369Glu) c.1044C>G (p.Asp348Glu) n.1185C>G | |
| 16 | g.20348236G= | CA2211941226 | UMOD | c.960C= (p.Asp320=) c.1059C= (p.Asp353=) c.1107C= (p.Asp369=) c.1044C= (p.Asp348=) n.1185C= | |
| 16 | g.20348236G>T | CA394983672 | UMOD | c.960C>A (p.Asp320Glu) c.1059C>A (p.Asp353Glu) c.1107C>A (p.Asp369Glu) c.1044C>A (p.Asp348Glu) n.1185C>A | |
| 16 | g.20348237T>A | CA394983675 | UMOD | c.959A>T (p.Asp320Val) c.1058A>T (p.Asp353Val) c.1106A>T (p.Asp369Val) c.1043A>T (p.Asp348Val) n.1184A>T | |
| 16 | g.20348237T>C | CA394983674 | UMOD | c.959A>G (p.Asp320Gly) c.1058A>G (p.Asp353Gly) c.1106A>G (p.Asp369Gly) c.1043A>G (p.Asp348Gly) n.1184A>G | dbSNP |
| 16 | g.20348237T>G | CA394983673 | UMOD | c.959A>C (p.Asp320Ala) c.1058A>C (p.Asp353Ala) c.1106A>C (p.Asp369Ala) c.1043A>C (p.Asp348Ala) n.1184A>C | |
| 16 | g.20348237T= | CA2211941232 | UMOD | c.959A= (p.Asp320=) c.1058A= (p.Asp353=) c.1106A= (p.Asp369=) c.1043A= (p.Asp348=) n.1184A= | |
| 16 | g.20348238C>A | CA394983676 | UMOD | c.958G>T (p.Asp320Tyr) c.1057G>T (p.Asp353Tyr) c.1105G>T (p.Asp369Tyr) c.1042G>T (p.Asp348Tyr) n.1183G>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.20348238C= | CA2211941235 | UMOD | c.958G= (p.Asp320=) c.1057G= (p.Asp353=) c.1105G= (p.Asp369=) c.1042G= (p.Asp348=) n.1183G= | |
| 16 | g.20348238C>G | CA394983677 | UMOD | c.958G>C (p.Asp320His) c.1057G>C (p.Asp353His) c.1105G>C (p.Asp369His) c.1042G>C (p.Asp348His) n.1183G>C | |
| 16 | g.20348238C>T | CA394983678 | UMOD | c.958G>A (p.Asp320Asn) c.1057G>A (p.Asp353Asn) c.1105G>A (p.Asp369Asn) c.1042G>A (p.Asp348Asn) n.1183G>A | gnomAD v4 |
| 16 | g.20348239C>A | CA394983679 | UMOD | c.957G>T (p.Gln319His) c.1056G>T (p.Gln352His) c.1104G>T (p.Gln368His) c.1041G>T (p.Gln347His) n.1182G>T | |
| 16 | g.20348239C= | CA2211941238 | UMOD | c.957G= (p.Gln319=) c.1056G= (p.Gln352=) c.1104G= (p.Gln368=) c.1041G= (p.Gln347=) n.1182G= | |
| 16 | g.20348239C>G | CA394983680 | UMOD | c.957G>C (p.Gln319His) c.1056G>C (p.Gln352His) c.1104G>C (p.Gln368His) c.1041G>C (p.Gln347His) n.1182G>C | dbSNP |
| 16 | g.20348239C>T | CA494096809 | UMOD | c.957G>A (p.Gln319=) c.1056G>A (p.Gln352=) c.1104G>A (p.Gln368=) c.1041G>A (p.Gln347=) n.1182G>A | |
| 16 | g.20348240T>A | CA394983681 | UMOD | c.956A>T (p.Gln319Leu) c.1055A>T (p.Gln352Leu) c.1103A>T (p.Gln368Leu) c.1040A>T (p.Gln347Leu) n.1181A>T | |
| 16 | g.20348240T>C | CA394983682 | UMOD | c.956A>G (p.Gln319Arg) c.1055A>G (p.Gln352Arg) c.1103A>G (p.Gln368Arg) c.1040A>G (p.Gln347Arg) n.1181A>G | |
| 16 | g.20348240T>G | CA394983683 | UMOD | c.956A>C (p.Gln319Pro) c.1055A>C (p.Gln352Pro) c.1103A>C (p.Gln368Pro) c.1040A>C (p.Gln347Pro) n.1181A>C | |
| 16 | g.20348241G>A | CA7939353 | UMOD | c.955C>T (p.Gln319Ter) c.1054C>T (p.Gln352Ter) c.1102C>T (p.Gln368Ter) c.1039C>T (p.Gln347Ter) n.1180C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348241G>C | CA394983684 | UMOD | c.955C>G (p.Gln319Glu) c.1054C>G (p.Gln352Glu) c.1102C>G (p.Gln368Glu) c.1039C>G (p.Gln347Glu) n.1180C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.20348241G= | CA2211941245 | UMOD | c.955C= (p.Gln319=) c.1054C= (p.Gln352=) c.1102C= (p.Gln368=) c.1039C= (p.Gln347=) n.1180C= | |
| 16 | g.20348241G>T | CA394983685 | UMOD | c.955C>A (p.Gln319Lys) c.1054C>A (p.Gln352Lys) c.1102C>A (p.Gln368Lys) c.1039C>A (p.Gln347Lys) n.1180C>A | |
| 16 | g.20348242T>A | CA394983686 | UMOD | c.954A>T (p.Lys318Asn) c.1053A>T (p.Lys351Asn) c.1101A>T (p.Lys367Asn) c.1038A>T (p.Lys346Asn) n.1179A>T | |
| 16 | g.20348242T>C | CA494096810 | UMOD | c.954A>G (p.Lys318=) c.1053A>G (p.Lys351=) c.1101A>G (p.Lys367=) c.1038A>G (p.Lys346=) n.1179A>G | |
| 16 | g.20348242T>G | CA394983687 | UMOD | c.954A>C (p.Lys318Asn) c.1053A>C (p.Lys351Asn) c.1101A>C (p.Lys367Asn) c.1038A>C (p.Lys346Asn) n.1179A>C | |
| 16 | g.20348243T>A | CA394983689 | UMOD | c.953A>T (p.Lys318Ile) c.1052A>T (p.Lys351Ile) c.1100A>T (p.Lys367Ile) c.1037A>T (p.Lys346Ile) n.1178A>T | |
| 16 | g.20348243T>C | CA7939354 | UMOD | c.953A>G (p.Lys318Arg) c.1052A>G (p.Lys351Arg) c.1100A>G (p.Lys367Arg) c.1037A>G (p.Lys346Arg) n.1178A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348243T>G | CA394983688 | UMOD | c.953A>C (p.Lys318Thr) c.1052A>C (p.Lys351Thr) c.1100A>C (p.Lys367Thr) c.1037A>C (p.Lys346Thr) n.1178A>C | |
| 16 | g.20348243T= | CA2211941250 | UMOD | c.953A= (p.Lys318=) c.1052A= (p.Lys351=) c.1100A= (p.Lys367=) c.1037A= (p.Lys346=) n.1178A= | |
| 16 | g.20348244T>A | CA394983690 | UMOD | c.952A>T (p.Lys318Ter) c.1051A>T (p.Lys351Ter) c.1099A>T (p.Lys367Ter) c.1036A>T (p.Lys346Ter) n.1177A>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.20348244T>C | CA394983691 | UMOD | c.952A>G (p.Lys318Glu) c.1051A>G (p.Lys351Glu) c.1099A>G (p.Lys367Glu) c.1036A>G (p.Lys346Glu) n.1177A>G | |
| 16 | g.20348244T>G | CA394983692 | UMOD | c.952A>C (p.Lys318Gln) c.1051A>C (p.Lys351Gln) c.1099A>C (p.Lys367Gln) c.1036A>C (p.Lys346Gln) n.1177A>C | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.20348244T= | CA2211941252 | UMOD | c.952A= (p.Lys318=) c.1051A= (p.Lys351=) c.1099A= (p.Lys367=) c.1036A= (p.Lys346=) n.1177A= | |
| 16 | g.20348245G>A | CA7939355 | UMOD | c.951C>T (p.Cys317=) c.1050C>T (p.Cys350=) c.1098C>T (p.Cys366=) c.1035C>T (p.Cys345=) n.1176C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348245G>C | CA394983693 | UMOD | c.951C>G (p.Cys317Trp) c.1050C>G (p.Cys350Trp) c.1098C>G (p.Cys366Trp) c.1035C>G (p.Cys345Trp) n.1176C>G | |
| 16 | g.20348245G= | CA2211941257 | UMOD | c.951C= (p.Cys317=) c.1050C= (p.Cys350=) c.1098C= (p.Cys366=) c.1035C= (p.Cys345=) n.1176C= | |
| 16 | g.20348245G>T | CA394983694 | UMOD | c.951C>A (p.Cys317Ter) c.1050C>A (p.Cys350Ter) c.1098C>A (p.Cys366Ter) c.1035C>A (p.Cys345Ter) n.1176C>A | dbSNP gnomAD v4 |
| 16 | g.20348246C>A | CA394983695 | UMOD | c.950G>T (p.Cys317Phe) c.1049G>T (p.Cys350Phe) c.1097G>T (p.Cys366Phe) c.1034G>T (p.Cys345Phe) n.1175G>T | |
| 16 | g.20348246C>G | CA394983696 | UMOD | c.950G>C (p.Cys317Ser) c.1049G>C (p.Cys350Ser) c.1097G>C (p.Cys366Ser) c.1034G>C (p.Cys345Ser) n.1175G>C | |
| 16 | g.20348246C>T | CA394983697 | UMOD | c.950G>A (p.Cys317Tyr) c.1049G>A (p.Cys350Tyr) c.1097G>A (p.Cys366Tyr) c.1034G>A (p.Cys345Tyr) n.1175G>A | |
| 16 | g.20348247A= | CA2211941265 | UMOD | c.949T= (p.Cys317=) c.1048T= (p.Cys350=) c.1096T= (p.Cys366=) c.1033T= (p.Cys345=) n.1174T= | |
| 16 | g.20348247A>C | CA394983698 | UMOD | c.949T>G (p.Cys317Gly) c.1048T>G (p.Cys350Gly) c.1096T>G (p.Cys366Gly) c.1033T>G (p.Cys345Gly) n.1174T>G | ClinVar dbSNP |
| 16 | g.20348247A>G | CA394983699 | UMOD | c.949T>C (p.Cys317Arg) c.1048T>C (p.Cys350Arg) c.1096T>C (p.Cys366Arg) c.1033T>C (p.Cys345Arg) n.1174T>C | |
| 16 | g.20348247A>T | CA394983700 | UMOD | c.949T>A (p.Cys317Ser) c.1048T>A (p.Cys350Ser) c.1096T>A (p.Cys366Ser) c.1033T>A (p.Cys345Ser) n.1174T>A | |
| 16 | g.20348248C>A | CA394983701 | UMOD | c.948G>T (p.Gln316His) c.1047G>T (p.Gln349His) c.1095G>T (p.Gln365His) c.1032G>T (p.Gln344His) n.1173G>T | |
| 16 | g.20348248C>G | CA394983702 | UMOD | c.948G>C (p.Gln316His) c.1047G>C (p.Gln349His) c.1095G>C (p.Gln365His) c.1032G>C (p.Gln344His) n.1173G>C | |
| 16 | g.20348248C>T | CA494096813 | UMOD | c.948G>A (p.Gln316=) c.1047G>A (p.Gln349=) c.1095G>A (p.Gln365=) c.1032G>A (p.Gln344=) n.1173G>A | gnomAD v4 |
| 16 | g.20348249T>A | CA394983704 | UMOD | c.947A>T (p.Gln316Leu) c.1046A>T (p.Gln349Leu) c.1094A>T (p.Gln365Leu) c.1031A>T (p.Gln344Leu) n.1172A>T | |
| 16 | g.20348249T>C | CA394983706 | UMOD | c.947A>G (p.Gln316Arg) c.1046A>G (p.Gln349Arg) c.1094A>G (p.Gln365Arg) c.1031A>G (p.Gln344Arg) n.1172A>G | |
| 16 | g.20348249T>G | CA394983705 | UMOD | c.947A>C (p.Gln316Pro) c.1046A>C (p.Gln349Pro) c.1094A>C (p.Gln365Pro) c.1031A>C (p.Gln344Pro) n.1172A>C | ClinVar dbSNP |
| 16 | g.20348249T= | CA2211941274 | UMOD | c.947A= (p.Gln316=) c.1046A= (p.Gln349=) c.1094A= (p.Gln365=) c.1031A= (p.Gln344=) n.1172A= | |
| 16 | g.20348250G>A | CA394983707 | UMOD | c.946C>T (p.Gln316Ter) c.1045C>T (p.Gln349Ter) c.1093C>T (p.Gln365Ter) c.1030C>T (p.Gln344Ter) n.1171C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.20348250G>C | CA394983708 | UMOD | c.946C>G (p.Gln316Glu) c.1045C>G (p.Gln349Glu) c.1093C>G (p.Gln365Glu) c.1030C>G (p.Gln344Glu) n.1171C>G | |
| 16 | g.20348250G= | CA2211941282 | UMOD | c.946C= (p.Gln316=) c.1045C= (p.Gln349=) c.1093C= (p.Gln365=) c.1030C= (p.Gln344=) n.1171C= | |
| 16 | g.20348250G>T | CA394983709 | UMOD | c.946C>A (p.Gln316Lys) c.1045C>A (p.Gln349Lys) c.1093C>A (p.Gln365Lys) c.1030C>A (p.Gln344Lys) n.1171C>A | |
| 16 | g.20348251G>A | CA7939356 | UMOD | c.945C>T (p.Cys315=) c.1044C>T (p.Cys348=) c.1092C>T (p.Cys364=) c.1029C>T (p.Cys343=) n.1170C>T | dbSNP ExAC gnomAD v4 |
| 16 | g.20348251G>C | CA394983710 | UMOD | c.945C>G (p.Cys315Trp) c.1044C>G (p.Cys348Trp) c.1092C>G (p.Cys364Trp) c.1029C>G (p.Cys343Trp) n.1170C>G | |
| 16 | g.20348251G= | CA2211941283 | UMOD | c.945C= (p.Cys315=) c.1044C= (p.Cys348=) c.1092C= (p.Cys364=) c.1029C= (p.Cys343=) n.1170C= | |
| 16 | g.20348251G>T | CA394983711 | UMOD | c.945C>A (p.Cys315Ter) c.1044C>A (p.Cys348Ter) c.1092C>A (p.Cys364Ter) c.1029C>A (p.Cys343Ter) n.1170C>A | |
| 16 | g.20348252C>A | CA394983713 | UMOD | c.944G>T (p.Cys315Phe) c.1043G>T (p.Cys348Phe) c.1091G>T (p.Cys364Phe) c.1028G>T (p.Cys343Phe) n.1169G>T | |
| 16 | g.20348252C= | CA2211941288 | UMOD | c.944G= (p.Cys315=) c.1043G= (p.Cys348=) c.1091G= (p.Cys364=) c.1028G= (p.Cys343=) n.1169G= | |
| 16 | g.20348252C>G | CA394983714 | UMOD | c.944G>C (p.Cys315Ser) c.1043G>C (p.Cys348Ser) c.1091G>C (p.Cys364Ser) c.1028G>C (p.Cys343Ser) n.1169G>C | |
| 16 | g.20348252C>T | CA221978 | UMOD | c.944G>A (p.Cys315Tyr) c.1043G>A (p.Cys348Tyr) c.1091G>A (p.Cys364Tyr) c.1028G>A (p.Cys343Tyr) n.1169G>A | ClinVar dbSNP |
| 16 | g.20348253A= | CA2211941295 | UMOD | c.943T= (p.Cys315=) c.1042T= (p.Cys348=) c.1090T= (p.Cys364=) c.1027T= (p.Cys343=) n.1168T= | |
| 16 | g.20348253A>C | CA394983716 | UMOD | c.943T>G (p.Cys315Gly) c.1042T>G (p.Cys348Gly) c.1090T>G (p.Cys364Gly) c.1027T>G (p.Cys343Gly) n.1168T>G | |
| 16 | g.20348253A>G | CA256254 | UMOD | c.943T>C (p.Cys315Arg) c.1042T>C (p.Cys348Arg) c.1090T>C (p.Cys364Arg) c.1027T>C (p.Cys343Arg) n.1168T>C | ClinVar dbSNP |
| 16 | g.20348253A>T | CA394983717 | UMOD | c.943T>A (p.Cys315Ser) c.1042T>A (p.Cys348Ser) c.1090T>A (p.Cys364Ser) c.1027T>A (p.Cys343Ser) n.1168T>A | |
| 16 | g.20348254G>A | CA494096814 | UMOD | c.942C>T (p.His314=) c.1041C>T (p.His347=) c.1089C>T (p.His363=) c.1026C>T (p.His342=) n.1167C>T | |
| 16 | g.20348254G>C | CA394983719 | UMOD | c.942C>G (p.His314Gln) c.1041C>G (p.His347Gln) c.1089C>G (p.His363Gln) c.1026C>G (p.His342Gln) n.1167C>G | |
| 16 | g.20348254G= | CA2211941304 | UMOD | c.942C= (p.His314=) c.1041C= (p.His347=) c.1089C= (p.His363=) c.1026C= (p.His342=) n.1167C= | |
| 16 | g.20348254G>T | CA394983718 | UMOD | c.942C>A (p.His314Gln) c.1041C>A (p.His347Gln) c.1089C>A (p.His363Gln) c.1026C>A (p.His342Gln) n.1167C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.20348255T>A | CA394983720 | UMOD | c.941A>T (p.His314Leu) c.1040A>T (p.His347Leu) c.1088A>T (p.His363Leu) c.1025A>T (p.His342Leu) n.1166A>T | |
| 16 | g.20348255T>C | CA394983721 | UMOD | c.941A>G (p.His314Arg) c.1040A>G (p.His347Arg) c.1088A>G (p.His363Arg) c.1025A>G (p.His342Arg) n.1166A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348255T>G | CA394983722 | UMOD | c.941A>C (p.His314Pro) c.1040A>C (p.His347Pro) c.1088A>C (p.His363Pro) c.1025A>C (p.His342Pro) n.1166A>C | |
| 16 | g.20348255T= | CA2211941305 | UMOD | c.941A= (p.His314=) c.1040A= (p.His347=) c.1088A= (p.His363=) c.1025A= (p.His342=) n.1166A= | |
| 16 | g.20348256G>A | CA394983723 | UMOD | c.940C>T (p.His314Tyr) c.1039C>T (p.His347Tyr) c.1087C>T (p.His363Tyr) c.1024C>T (p.His342Tyr) n.1165C>T | |
| 16 | g.20348256G>C | CA394983725 | UMOD | c.940C>G (p.His314Asp) c.1039C>G (p.His347Asp) c.1087C>G (p.His363Asp) c.1024C>G (p.His342Asp) n.1165C>G | |
| 16 | g.20348256G>T | CA394983726 | UMOD | c.940C>A (p.His314Asn) c.1039C>A (p.His347Asn) c.1087C>A (p.His363Asn) c.1024C>A (p.His342Asn) n.1165C>A | |
| 16 | g.20348257C>A | CA394983728 | UMOD | c.939G>T (p.Trp313Cys) c.1038G>T (p.Trp346Cys) c.1086G>T (p.Trp362Cys) c.1023G>T (p.Trp341Cys) n.1164G>T | |
| 16 | g.20348257C>G | CA394983730 | UMOD | c.939G>C (p.Trp313Cys) c.1038G>C (p.Trp346Cys) c.1086G>C (p.Trp362Cys) c.1023G>C (p.Trp341Cys) n.1164G>C | |
| 16 | g.20348257C>T | CA394983731 | UMOD | c.939G>A (p.Trp313Ter) c.1038G>A (p.Trp346Ter) c.1086G>A (p.Trp362Ter) c.1023G>A (p.Trp341Ter) n.1164G>A | gnomAD v4 |
| 16 | g.20348258C>A | CA394983732 | UMOD | c.938G>T (p.Trp313Leu) c.1037G>T (p.Trp346Leu) c.1085G>T (p.Trp362Leu) c.1022G>T (p.Trp341Leu) n.1163G>T | |
| 16 | g.20348258C>G | CA394983734 | UMOD | c.938G>C (p.Trp313Ser) c.1037G>C (p.Trp346Ser) c.1085G>C (p.Trp362Ser) c.1022G>C (p.Trp341Ser) n.1163G>C | |
| 16 | g.20348258C>T | CA394983735 | UMOD | c.938G>A (p.Trp313Ter) c.1037G>A (p.Trp346Ter) c.1085G>A (p.Trp362Ter) c.1022G>A (p.Trp341Ter) n.1163G>A | |
| 16 | g.20348259A>C | CA394983740 | UMOD | c.937T>G (p.Trp313Gly) c.1036T>G (p.Trp346Gly) c.1084T>G (p.Trp362Gly) c.1021T>G (p.Trp341Gly) n.1162T>G | |
| 16 | g.20348259A>G | CA394983739 | UMOD | c.937T>C (p.Trp313Arg) c.1036T>C (p.Trp346Arg) c.1084T>C (p.Trp362Arg) c.1021T>C (p.Trp341Arg) n.1162T>C | |
| 16 | g.20348259A>T | CA394983737 | UMOD | c.937T>A (p.Trp313Arg) c.1036T>A (p.Trp346Arg) c.1084T>A (p.Trp362Arg) c.1021T>A (p.Trp341Arg) n.1162T>A | |
| 16 | g.20348260T>A | CA394983742 | UMOD | c.936A>T (p.Arg312Ser) c.1035A>T (p.Arg345Ser) c.1083A>T (p.Arg361Ser) c.1020A>T (p.Arg340Ser) n.1161A>T | |
| 16 | g.20348260T>C | CA494096817 | UMOD | c.936A>G (p.Arg312=) c.1035A>G (p.Arg345=) c.1083A>G (p.Arg361=) c.1020A>G (p.Arg340=) n.1161A>G | |
| 16 | g.20348260T>G | CA394983744 | UMOD | c.936A>C (p.Arg312Ser) c.1035A>C (p.Arg345Ser) c.1083A>C (p.Arg361Ser) c.1020A>C (p.Arg340Ser) n.1161A>C | |
| 16 | g.20348261C>A | CA394983745 | UMOD | c.935G>T (p.Arg312Ile) c.1034G>T (p.Arg345Ile) c.1082G>T (p.Arg361Ile) c.1019G>T (p.Arg340Ile) n.1160G>T | |
| 16 | g.20348261C>G | CA394983747 | UMOD | c.935G>C (p.Arg312Thr) c.1034G>C (p.Arg345Thr) c.1082G>C (p.Arg361Thr) c.1019G>C (p.Arg340Thr) n.1160G>C | |
| 16 | g.20348261C>T | CA394983748 | UMOD | c.935G>A (p.Arg312Lys) c.1034G>A (p.Arg345Lys) c.1082G>A (p.Arg361Lys) c.1019G>A (p.Arg340Lys) n.1160G>A | |
| 16 | g.20348262T>A | CA394983750 | UMOD | c.934A>T (p.Arg312Ter) c.1033A>T (p.Arg345Ter) c.1081A>T (p.Arg361Ter) c.1018A>T (p.Arg340Ter) n.1159A>T | |
| 16 | g.20348262T>C | CA394983752 | UMOD | c.934A>G (p.Arg312Gly) c.1033A>G (p.Arg345Gly) c.1081A>G (p.Arg361Gly) c.1018A>G (p.Arg340Gly) n.1159A>G | |
| 16 | g.20348262T>G | CA494096821 | UMOD | c.934A>C (p.Arg312=) c.1033A>C (p.Arg345=) c.1081A>C (p.Arg361=) c.1018A>C (p.Arg340=) n.1159A>C | |
| 16 | g.20348263G>A | CA216162 | UMOD | c.933C>T (p.Gly311=) c.1032C>T (p.Gly344=) c.1080C>T (p.Gly360=) c.1017C>T (p.Gly339=) n.1158C>T | ClinVar dbSNP |
| 16 | g.20348263G>C | CA494096823 | UMOD | c.933C>G (p.Gly311=) c.1032C>G (p.Gly344=) c.1080C>G (p.Gly360=) c.1017C>G (p.Gly339=) n.1158C>G | |
| 16 | g.20348263G= | CA2211941316 | UMOD | c.933C= (p.Gly311=) c.1032C= (p.Gly344=) c.1080C= (p.Gly360=) c.1017C= (p.Gly339=) n.1158C= | |
| 16 | g.20348263G>T | CA494096822 | UMOD | c.933C>A (p.Gly311=) c.1032C>A (p.Gly344=) c.1080C>A (p.Gly360=) c.1017C>A (p.Gly339=) n.1158C>A | dbSNP gnomAD v4 |
| 16 | g.20348264C>A | CA394983754 | UMOD | c.932G>T (p.Gly311Val) c.1031G>T (p.Gly344Val) c.1079G>T (p.Gly360Val) c.1016G>T (p.Gly339Val) n.1157G>T | |
| 16 | g.20348264C>G | CA394983756 | UMOD | c.932G>C (p.Gly311Ala) c.1031G>C (p.Gly344Ala) c.1079G>C (p.Gly360Ala) c.1016G>C (p.Gly339Ala) n.1157G>C | |
| 16 | g.20348264C>T | CA394983757 | UMOD | c.932G>A (p.Gly311Asp) c.1031G>A (p.Gly344Asp) c.1079G>A (p.Gly360Asp) c.1016G>A (p.Gly339Asp) n.1157G>A | |
| 16 | g.20348265C>A | CA394983759 | UMOD | c.931G>T (p.Gly311Cys) c.1030G>T (p.Gly344Cys) c.1078G>T (p.Gly360Cys) c.1015G>T (p.Gly339Cys) n.1156G>T | COSMIC COSMIC |
| 16 | g.20348265C>G | CA394983760 | UMOD | c.931G>C (p.Gly311Arg) c.1030G>C (p.Gly344Arg) c.1078G>C (p.Gly360Arg) c.1015G>C (p.Gly339Arg) n.1156G>C | |
| 16 | g.20348265C>T | CA394983761 | UMOD | c.931G>A (p.Gly311Ser) c.1030G>A (p.Gly344Ser) c.1078G>A (p.Gly360Ser) c.1015G>A (p.Gly339Ser) n.1156G>A | |
| 16 | g.20348266A>C | CA394983763 | UMOD | c.930T>G (p.Asn310Lys) c.1029T>G (p.Asn343Lys) c.1077T>G (p.Asn359Lys) c.1014T>G (p.Asn338Lys) n.1155T>G | |
| 16 | g.20348266A>G | CA494096826 | UMOD | c.930T>C (p.Asn310=) c.1029T>C (p.Asn343=) c.1077T>C (p.Asn359=) c.1014T>C (p.Asn338=) n.1155T>C | |
| 16 | g.20348266A>T | CA394983765 | UMOD | c.930T>A (p.Asn310Lys) c.1029T>A (p.Asn343Lys) c.1077T>A (p.Asn359Lys) c.1014T>A (p.Asn338Lys) n.1155T>A | |
| 16 | g.20348267T>A | CA394983766 | UMOD | c.929A>T (p.Asn310Ile) c.1028A>T (p.Asn343Ile) c.1076A>T (p.Asn359Ile) c.1013A>T (p.Asn338Ile) n.1154A>T | |
| 16 | g.20348267T>C | CA394983768 | UMOD | c.929A>G (p.Asn310Ser) c.1028A>G (p.Asn343Ser) c.1076A>G (p.Asn359Ser) c.1013A>G (p.Asn338Ser) n.1154A>G | |
| 16 | g.20348267T>G | CA394983769 | UMOD | c.929A>C (p.Asn310Thr) c.1028A>C (p.Asn343Thr) c.1076A>C (p.Asn359Thr) c.1013A>C (p.Asn338Thr) n.1154A>C | |
| 16 | g.20348268T>A | CA394983770 | UMOD | c.928A>T (p.Asn310Tyr) c.1027A>T (p.Asn343Tyr) c.1075A>T (p.Asn359Tyr) c.1012A>T (p.Asn338Tyr) n.1153A>T | |
| 16 | g.20348268T>C | CA394983772 | UMOD | c.928A>G (p.Asn310Asp) c.1027A>G (p.Asn343Asp) c.1075A>G (p.Asn359Asp) c.1012A>G (p.Asn338Asp) n.1153A>G | |
| 16 | g.20348268T>G | CA394983774 | UMOD | c.928A>C (p.Asn310His) c.1027A>C (p.Asn343His) c.1075A>C (p.Asn359His) c.1012A>C (p.Asn338His) n.1153A>C | |
| 16 | g.20348269A= | CA2211941323 | UMOD | c.927T= (p.Asn309=) c.1026T= (p.Asn342=) c.1074T= (p.Asn358=) c.1011T= (p.Asn337=) n.1152T= | |
| 16 | g.20348269A>C | CA7939357 | UMOD | c.927T>G (p.Asn309Lys) c.1026T>G (p.Asn342Lys) c.1074T>G (p.Asn358Lys) c.1011T>G (p.Asn337Lys) n.1152T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.20348269A>G | CA494096829 | UMOD | c.927T>C (p.Asn309=) c.1026T>C (p.Asn342=) c.1074T>C (p.Asn358=) c.1011T>C (p.Asn337=) n.1152T>C | |
| 16 | g.20348269A>T | CA394983776 | UMOD | c.927T>A (p.Asn309Lys) c.1026T>A (p.Asn342Lys) c.1074T>A (p.Asn358Lys) c.1011T>A (p.Asn337Lys) n.1152T>A | |
| 16 | g.20348270T>A | CA394983778 | UMOD | c.926A>T (p.Asn309Ile) c.1025A>T (p.Asn342Ile) c.1073A>T (p.Asn358Ile) c.1010A>T (p.Asn337Ile) n.1151A>T | |
| 16 | g.20348270T>C | CA394983780 | UMOD | c.926A>G (p.Asn309Ser) c.1025A>G (p.Asn342Ser) c.1073A>G (p.Asn358Ser) c.1010A>G (p.Asn337Ser) n.1151A>G | |
| 16 | g.20348270T>G | CA394983781 | UMOD | c.926A>C (p.Asn309Thr) c.1025A>C (p.Asn342Thr) c.1073A>C (p.Asn358Thr) c.1010A>C (p.Asn337Thr) n.1151A>C | |
| 16 | g.20348271T>A | CA394983786 | UMOD | c.925A>T (p.Asn309Tyr) c.1024A>T (p.Asn342Tyr) c.1072A>T (p.Asn358Tyr) c.1009A>T (p.Asn337Tyr) n.1150A>T | |
| 16 | g.20348271T>C | CA394983784 | UMOD | c.925A>G (p.Asn309Asp) c.1024A>G (p.Asn342Asp) c.1072A>G (p.Asn358Asp) c.1009A>G (p.Asn337Asp) n.1150A>G | gnomAD v4 |
| 16 | g.20348271T>G | CA394983783 | UMOD | c.925A>C (p.Asn309His) c.1024A>C (p.Asn342His) c.1072A>C (p.Asn358His) c.1009A>C (p.Asn337His) n.1150A>C | |
| 16 | g.20348272C>A | CA7939358 | UMOD | c.924G>T (p.Ser308=) c.1023G>T (p.Ser341=) c.1071G>T (p.Ser357=) c.1008G>T (p.Ser336=) n.1149G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348272C= | CA2211941328 | UMOD | c.924G= (p.Ser308=) c.1023G= (p.Ser341=) c.1071G= (p.Ser357=) c.1008G= (p.Ser336=) n.1149G= | |
| 16 | g.20348272C>G | CA494096832 | UMOD | c.924G>C (p.Ser308=) c.1023G>C (p.Ser341=) c.1071G>C (p.Ser357=) c.1008G>C (p.Ser336=) n.1149G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.20348272C>T | CA494096833 | UMOD | c.924G>A (p.Ser308=) c.1023G>A (p.Ser341=) c.1071G>A (p.Ser357=) c.1008G>A (p.Ser336=) n.1149G>A | ClinVar COSMIC COSMIC |
| 16 | g.20348273G>A | CA394983789 | UMOD | c.923C>T (p.Ser308Leu) c.1022C>T (p.Ser341Leu) c.1070C>T (p.Ser357Leu) c.1007C>T (p.Ser336Leu) n.1148C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.20348273G>C | CA279299288 | UMOD | c.923C>G (p.Ser308Trp) c.1022C>G (p.Ser341Trp) c.1070C>G (p.Ser357Trp) c.1007C>G (p.Ser336Trp) n.1148C>G | dbSNP |
| 16 | g.20348273G= | CA2211941333 | UMOD | c.923C= (p.Ser308=) c.1022C= (p.Ser341=) c.1070C= (p.Ser357=) c.1007C= (p.Ser336=) n.1148C= | |
| 16 | g.20348273G>T | CA394983788 | UMOD | c.923C>A (p.Ser308Ter) c.1022C>A (p.Ser341Ter) c.1070C>A (p.Ser357Ter) c.1007C>A (p.Ser336Ter) n.1148C>A | |
| 16 | g.20348274A>C | CA394983791 | UMOD | c.922T>G (p.Ser308Ala) c.1021T>G (p.Ser341Ala) c.1069T>G (p.Ser357Ala) c.1006T>G (p.Ser336Ala) n.1147T>G | |
| 16 | g.20348274A>G | CA394983792 | UMOD | c.922T>C (p.Ser308Pro) c.1021T>C (p.Ser341Pro) c.1069T>C (p.Ser357Pro) c.1006T>C (p.Ser336Pro) n.1147T>C | |
| 16 | g.20348274A>T | CA394983794 | UMOD | c.922T>A (p.Ser308Thr) c.1021T>A (p.Ser341Thr) c.1069T>A (p.Ser357Thr) c.1006T>A (p.Ser336Thr) n.1147T>A | |
| 16 | g.20348275T>A | CA394983796 | UMOD | c.921A>T (p.Lys307Asn) c.1020A>T (p.Lys340Asn) c.1068A>T (p.Lys356Asn) c.1005A>T (p.Lys335Asn) n.1146A>T | |
| 16 | g.20348275T>C | CA494096835 | UMOD | c.921A>G (p.Lys307=) c.1020A>G (p.Lys340=) c.1068A>G (p.Lys356=) c.1005A>G (p.Lys335=) n.1146A>G | |
| 16 | g.20348275T>G | CA394983797 | UMOD | c.921A>C (p.Lys307Asn) c.1020A>C (p.Lys340Asn) c.1068A>C (p.Lys356Asn) c.1005A>C (p.Lys335Asn) n.1146A>C | |
| 16 | g.20348276T>A | CA394983798 | UMOD | c.920A>T (p.Lys307Ile) c.1019A>T (p.Lys340Ile) c.1067A>T (p.Lys356Ile) c.1004A>T (p.Lys335Ile) n.1145A>T | |
| 16 | g.20348276T>C | CA394983799 | UMOD | c.920A>G (p.Lys307Arg) c.1019A>G (p.Lys340Arg) c.1067A>G (p.Lys356Arg) c.1004A>G (p.Lys335Arg) n.1145A>G | |
| 16 | g.20348276T>G | CA394983800 | UMOD | c.920A>C (p.Lys307Thr) c.1019A>C (p.Lys340Thr) c.1067A>C (p.Lys356Thr) c.1004A>C (p.Lys335Thr) n.1145A>C | |
| 16 | g.20348277T>A | CA7939359 | UMOD | c.919A>T (p.Lys307Ter) c.1018A>T (p.Lys340Ter) c.1066A>T (p.Lys356Ter) c.1003A>T (p.Lys335Ter) n.1144A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.20348277T>C | CA394983802 | UMOD | c.919A>G (p.Lys307Glu) c.1018A>G (p.Lys340Glu) c.1066A>G (p.Lys356Glu) c.1003A>G (p.Lys335Glu) n.1144A>G | |
| 16 | g.20348277T>G | CA394983803 | UMOD | c.919A>C (p.Lys307Gln) c.1018A>C (p.Lys340Gln) c.1066A>C (p.Lys356Gln) c.1003A>C (p.Lys335Gln) n.1144A>C | |
| 16 | g.20348277T= | CA2211941337 | UMOD | c.919A= (p.Lys307=) c.1018A= (p.Lys340=) c.1066A= (p.Lys356=) c.1003A= (p.Lys335=) n.1144A= | |
| 16 | g.20348278G>A | CA494096837 | UMOD | c.918C>T (p.Cys306=) c.1017C>T (p.Cys339=) c.1065C>T (p.Cys355=) c.1002C>T (p.Cys334=) n.1143C>T | |
| 16 | g.20348278G>C | CA394983805 | UMOD | c.918C>G (p.Cys306Trp) c.1017C>G (p.Cys339Trp) c.1065C>G (p.Cys355Trp) c.1002C>G (p.Cys334Trp) n.1143C>G | |
| 16 | g.20348278G>T | CA394983804 | UMOD | c.918C>A (p.Cys306Ter) c.1017C>A (p.Cys339Ter) c.1065C>A (p.Cys355Ter) c.1002C>A (p.Cys334Ter) n.1143C>A | |
| 16 | g.20348279C>A | CA394983807 | UMOD | c.917G>T (p.Cys306Phe) c.1016G>T (p.Cys339Phe) c.1064G>T (p.Cys355Phe) c.1001G>T (p.Cys334Phe) n.1142G>T | |
| 16 | g.20348279C>G | CA394983808 | UMOD | c.917G>C (p.Cys306Ser) c.1016G>C (p.Cys339Ser) c.1064G>C (p.Cys355Ser) c.1001G>C (p.Cys334Ser) n.1142G>C | |
| 16 | g.20348279C>T | CA394983810 | UMOD | c.917G>A (p.Cys306Tyr) c.1016G>A (p.Cys339Tyr) c.1064G>A (p.Cys355Tyr) c.1001G>A (p.Cys334Tyr) n.1142G>A | |
| 16 | g.20348280A>C | CA394983811 | UMOD | c.916T>G (p.Cys306Gly) c.1015T>G (p.Cys339Gly) c.1063T>G (p.Cys355Gly) c.1000T>G (p.Cys334Gly) n.1141T>G | |
| 16 | g.20348280A>G | CA394983813 | UMOD | c.916T>C (p.Cys306Arg) c.1015T>C (p.Cys339Arg) c.1063T>C (p.Cys355Arg) c.1000T>C (p.Cys334Arg) n.1141T>C | gnomAD v4 |
| 16 | g.20348280A>T | CA394983814 | UMOD | c.916T>A (p.Cys306Ser) c.1015T>A (p.Cys339Ser) c.1063T>A (p.Cys355Ser) c.1000T>A (p.Cys334Ser) n.1141T>A | |
| 16 | g.20348281G>A | CA494096839 | UMOD | c.915C>T (p.Asp305=) c.1014C>T (p.Asp338=) c.1062C>T (p.Asp354=) c.999C>T (p.Asp333=) n.1140C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.20348281G>C | CA394983817 | UMOD | c.915C>G (p.Asp305Glu) c.1014C>G (p.Asp338Glu) c.1062C>G (p.Asp354Glu) c.999C>G (p.Asp333Glu) n.1140C>G | |
| 16 | g.20348281G= | CA2211941344 | UMOD | c.915C= (p.Asp305=) c.1014C= (p.Asp338=) c.1062C= (p.Asp354=) c.999C= (p.Asp333=) n.1140C= | |
| 16 | g.20348281G>T | CA394983818 | UMOD | c.915C>A (p.Asp305Glu) c.1014C>A (p.Asp338Glu) c.1062C>A (p.Asp354Glu) c.999C>A (p.Asp333Glu) n.1140C>A | |
| 16 | g.20348282T>A | CA394983820 | UMOD | c.914A>T (p.Asp305Val) c.1013A>T (p.Asp338Val) c.1061A>T (p.Asp354Val) c.998A>T (p.Asp333Val) n.1139A>T | |
| 16 | g.20348282T>C | CA394983822 | UMOD | c.914A>G (p.Asp305Gly) c.1013A>G (p.Asp338Gly) c.1061A>G (p.Asp354Gly) c.998A>G (p.Asp333Gly) n.1139A>G | |
| 16 | g.20348282T>G | CA394983823 | UMOD | c.914A>C (p.Asp305Ala) c.1013A>C (p.Asp338Ala) c.1061A>C (p.Asp354Ala) c.998A>C (p.Asp333Ala) n.1139A>C | |
| 16 | g.20348283C>A | CA394983825 | UMOD | c.913G>T (p.Asp305Tyr) c.1012G>T (p.Asp338Tyr) c.1060G>T (p.Asp354Tyr) c.997G>T (p.Asp333Tyr) n.1138G>T | COSMIC COSMIC |
| 16 | g.20348283C= | CA2211941347 | UMOD | c.913G= (p.Asp305=) c.1012G= (p.Asp338=) c.1060G= (p.Asp354=) c.997G= (p.Asp333=) n.1138G= | |
| 16 | g.20348283C>G | CA394983826 | UMOD | c.913G>C (p.Asp305His) c.1012G>C (p.Asp338His) c.1060G>C (p.Asp354His) c.997G>C (p.Asp333His) n.1138G>C | |
| 16 | g.20348283C>T | CA7939360 | UMOD | c.913G>A (p.Asp305Asn) c.1012G>A (p.Asp338Asn) c.1060G>A (p.Asp354Asn) c.997G>A (p.Asp333Asn) n.1138G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.20348284C>A | CA394983828 | UMOD | c.912G>T (p.Glu304Asp) c.1011G>T (p.Glu337Asp) c.1059G>T (p.Glu353Asp) c.996G>T (p.Glu332Asp) n.1137G>T | COSMIC COSMIC |
| 16 | g.20348284C= | CA2211941351 | UMOD | c.912G= (p.Glu304=) c.1011G= (p.Glu337=) c.1059G= (p.Glu353=) c.996G= (p.Glu332=) n.1137G= | |
| 16 | g.20348284C>G | CA7939361 | UMOD | c.912G>C (p.Glu304Asp) c.1011G>C (p.Glu337Asp) c.1059G>C (p.Glu353Asp) c.996G>C (p.Glu332Asp) n.1137G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348284C>T | CA494096847 | UMOD | c.912G>A (p.Glu304=) c.1011G>A (p.Glu337=) c.1059G>A (p.Glu353=) c.996G>A (p.Glu332=) n.1137G>A | |
| 16 | g.20348285T>A | CA394983830 | UMOD | c.911A>T (p.Glu304Val) c.1010A>T (p.Glu337Val) c.1058A>T (p.Glu353Val) c.995A>T (p.Glu332Val) n.1136A>T | |
| 16 | g.20348285T>C | CA394983832 | UMOD | c.911A>G (p.Glu304Gly) c.1010A>G (p.Glu337Gly) c.1058A>G (p.Glu353Gly) c.995A>G (p.Glu332Gly) n.1136A>G | |
| 16 | g.20348285T>G | CA394983833 | UMOD | c.911A>C (p.Glu304Ala) c.1010A>C (p.Glu337Ala) c.1058A>C (p.Glu353Ala) c.995A>C (p.Glu332Ala) n.1136A>C | |
| 16 | g.20348286C>A | CA394983835 | UMOD | c.910G>T (p.Glu304Ter) c.1009G>T (p.Glu337Ter) c.1057G>T (p.Glu353Ter) c.994G>T (p.Glu332Ter) n.1135G>T | |
| 16 | g.20348286C= | CA2211941362 | UMOD | c.910G= (p.Glu304=) c.1009G= (p.Glu337=) c.1057G= (p.Glu353=) c.994G= (p.Glu332=) n.1135G= | |
| 16 | g.20348286C>G | CA7939362 | UMOD | c.910G>C (p.Glu304Gln) c.1009G>C (p.Glu337Gln) c.1057G>C (p.Glu353Gln) c.994G>C (p.Glu332Gln) n.1135G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.20348286C>T | CA394983837 | UMOD | c.910G>A (p.Glu304Lys) c.1009G>A (p.Glu337Lys) c.1057G>A (p.Glu353Lys) c.994G>A (p.Glu332Lys) n.1135G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.20348287G>A | CA494096853 | UMOD | c.909C>T (p.Asp303=) c.1008C>T (p.Asp336=) c.1056C>T (p.Asp352=) c.993C>T (p.Asp331=) n.1134C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.20348287G>C | CA394983838 | UMOD | c.909C>G (p.Asp303Glu) c.1008C>G (p.Asp336Glu) c.1056C>G (p.Asp352Glu) c.993C>G (p.Asp331Glu) n.1134C>G | |
| 16 | g.20348287G= | CA2211941369 | UMOD | c.909C= (p.Asp303=) c.1008C= (p.Asp336=) c.1056C= (p.Asp352=) c.993C= (p.Asp331=) n.1134C= | |
| 16 | g.20348287G>T | CA279299317 | UMOD | c.909C>A (p.Asp303Glu) c.1008C>A (p.Asp336Glu) c.1056C>A (p.Asp352Glu) c.993C>A (p.Asp331Glu) n.1134C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348288T>A | CA394983840 | UMOD | c.908A>T (p.Asp303Val) c.1007A>T (p.Asp336Val) c.1055A>T (p.Asp352Val) c.992A>T (p.Asp331Val) n.1133A>T | |
| 16 | g.20348288T>C | CA394983842 | UMOD | c.908A>G (p.Asp303Gly) c.1007A>G (p.Asp336Gly) c.1055A>G (p.Asp352Gly) c.992A>G (p.Asp331Gly) n.1133A>G | |
| 16 | g.20348288T>G | CA394983841 | UMOD | c.908A>C (p.Asp303Ala) c.1007A>C (p.Asp336Ala) c.1055A>C (p.Asp352Ala) c.992A>C (p.Asp331Ala) n.1133A>C | |
| 16 | g.20348289C>A | CA394983843 | UMOD | c.907G>T (p.Asp303Tyr) c.1006G>T (p.Asp336Tyr) c.1054G>T (p.Asp352Tyr) c.991G>T (p.Asp331Tyr) n.1132G>T | |
| 16 | g.20348289C>G | CA394983844 | UMOD | c.907G>C (p.Asp303His) c.1006G>C (p.Asp336His) c.1054G>C (p.Asp352His) c.991G>C (p.Asp331His) n.1132G>C | |
| 16 | g.20348289C>T | CA394983846 | UMOD | c.907G>A (p.Asp303Asn) c.1006G>A (p.Asp336Asn) c.1054G>A (p.Asp352Asn) c.991G>A (p.Asp331Asn) n.1132G>A | dbSNP |
| 16 | g.20348290T>A | CA494096858 | UMOD | c.906A>T (p.Ile302=) c.1005A>T (p.Ile335=) c.1053A>T (p.Ile351=) c.990A>T (p.Ile330=) n.1131A>T | |
| 16 | g.20348290T>C | CA394983848 | UMOD | c.906A>G (p.Ile302Met) c.1005A>G (p.Ile335Met) c.1053A>G (p.Ile351Met) c.990A>G (p.Ile330Met) n.1131A>G | |
| 16 | g.20348290T>G | CA494096859 | UMOD | c.906A>C (p.Ile302=) c.1005A>C (p.Ile335=) c.1053A>C (p.Ile351=) c.990A>C (p.Ile330=) n.1131A>C | |
| 16 | g.20348291A= | CA2211941373 | UMOD | c.905T= (p.Ile302=) c.1004T= (p.Ile335=) c.1052T= (p.Ile351=) c.989T= (p.Ile330=) n.1130T= | |
| 16 | g.20348291A>C | CA394983851 | UMOD | c.905T>G (p.Ile302Arg) c.1004T>G (p.Ile335Arg) c.1052T>G (p.Ile351Arg) c.989T>G (p.Ile330Arg) n.1130T>G | dbSNP gnomAD v4 |
| 16 | g.20348291A>G | CA279299324 | UMOD | c.905T>C (p.Ile302Thr) c.1004T>C (p.Ile335Thr) c.1052T>C (p.Ile351Thr) c.989T>C (p.Ile330Thr) n.1130T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348291A>T | CA394983850 | UMOD | c.905T>A (p.Ile302Lys) c.1004T>A (p.Ile335Lys) c.1052T>A (p.Ile351Lys) c.989T>A (p.Ile330Lys) n.1130T>A | |
| 16 | g.20348292T>A | CA394983853 | UMOD | c.904A>T (p.Ile302Leu) c.1003A>T (p.Ile335Leu) c.1051A>T (p.Ile351Leu) c.988A>T (p.Ile330Leu) n.1129A>T | |
| 16 | g.20348292T>C | CA394983854 | UMOD | c.904A>G (p.Ile302Val) c.1003A>G (p.Ile335Val) c.1051A>G (p.Ile351Val) c.988A>G (p.Ile330Val) n.1129A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348292T>G | CA394983856 | UMOD | c.904A>C (p.Ile302Leu) c.1003A>C (p.Ile335Leu) c.1051A>C (p.Ile351Leu) c.988A>C (p.Ile330Leu) n.1129A>C | |
| 16 | g.20348292T= | CA2211941379 | UMOD | c.904A= (p.Ile302=) c.1003A= (p.Ile335=) c.1051A= (p.Ile351=) c.988A= (p.Ile330=) n.1129A= | |
| 16 | g.20348293A>C | CA394983857 | UMOD | c.903T>G (p.Ser301Arg) c.1002T>G (p.Ser334Arg) c.1050T>G (p.Ser350Arg) c.987T>G (p.Ser329Arg) n.1128T>G | |
| 16 | g.20348293A>G | CA494096868 | UMOD | c.903T>C (p.Ser301=) c.1002T>C (p.Ser334=) c.1050T>C (p.Ser350=) c.987T>C (p.Ser329=) n.1128T>C | gnomAD v4 |
| 16 | g.20348293A>T | CA394983859 | UMOD | c.903T>A (p.Ser301Arg) c.1002T>A (p.Ser334Arg) c.1050T>A (p.Ser350Arg) c.987T>A (p.Ser329Arg) n.1128T>A | gnomAD v4 |
| 16 | g.20348294C>A | CA394983860 | UMOD | c.902G>T (p.Ser301Ile) c.1001G>T (p.Ser334Ile) c.1049G>T (p.Ser350Ile) c.986G>T (p.Ser329Ile) n.1127G>T | |
| 16 | g.20348294C= | CA2211941384 | UMOD | c.902G= (p.Ser301=) c.1001G= (p.Ser334=) c.1049G= (p.Ser350=) c.986G= (p.Ser329=) n.1127G= | |
| 16 | g.20348294C>G | CA394983862 | UMOD | c.902G>C (p.Ser301Thr) c.1001G>C (p.Ser334Thr) c.1049G>C (p.Ser350Thr) c.986G>C (p.Ser329Thr) n.1127G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.20348294C>T | CA394983864 | UMOD | c.902G>A (p.Ser301Asn) c.1001G>A (p.Ser334Asn) c.1049G>A (p.Ser350Asn) c.986G>A (p.Ser329Asn) n.1127G>A | |
| 16 | g.20348295T>A | CA394983865 | UMOD | c.901A>T (p.Ser301Cys) c.1000A>T (p.Ser334Cys) c.1048A>T (p.Ser350Cys) c.985A>T (p.Ser329Cys) n.1126A>T | |
| 16 | g.20348295T>C | CA394983866 | UMOD | c.901A>G (p.Ser301Gly) c.1000A>G (p.Ser334Gly) c.1048A>G (p.Ser350Gly) c.985A>G (p.Ser329Gly) n.1126A>G | |
| 16 | g.20348295T>G | CA394983867 | UMOD | c.901A>C (p.Ser301Arg) c.1000A>C (p.Ser334Arg) c.1048A>C (p.Ser350Arg) c.985A>C (p.Ser329Arg) n.1126A>C | |
| 16 | g.20348296G>A | CA494096881 | UMOD | c.900C>T (p.Cys300=) c.999C>T (p.Cys333=) c.1047C>T (p.Cys349=) c.984C>T (p.Cys328=) n.1125C>T | dbSNP |
| 16 | g.20348296G>C | CA394983870 | UMOD | c.900C>G (p.Cys300Trp) c.999C>G (p.Cys333Trp) c.1047C>G (p.Cys349Trp) c.984C>G (p.Cys328Trp) n.1125C>G | |
| 16 | g.20348296G= | CA2211941390 | UMOD | c.900C= (p.Cys300=) c.999C= (p.Cys333=) c.1047C= (p.Cys349=) c.984C= (p.Cys328=) n.1125C= | |
| 16 | g.20348296G>T | CA394983871 | UMOD | c.900C>A (p.Cys300Ter) c.999C>A (p.Cys333Ter) c.1047C>A (p.Cys349Ter) c.984C>A (p.Cys328Ter) n.1125C>A | |
| 16 | g.20348297C>A | CA394983872 | UMOD | c.899G>T (p.Cys300Phe) c.998G>T (p.Cys333Phe) c.1046G>T (p.Cys349Phe) c.983G>T (p.Cys328Phe) n.1124G>T | |
| 16 | g.20348297C>G | CA394983876 | UMOD | c.899G>C (p.Cys300Ser) c.998G>C (p.Cys333Ser) c.1046G>C (p.Cys349Ser) c.983G>C (p.Cys328Ser) n.1124G>C | |
| 16 | g.20348297C>T | CA394983874 | UMOD | c.899G>A (p.Cys300Tyr) c.998G>A (p.Cys333Tyr) c.1046G>A (p.Cys349Tyr) c.983G>A (p.Cys328Tyr) n.1124G>A | |
| 16 | g.20348298A= | CA2211941395 | UMOD | c.898T= (p.Cys300=) c.997T= (p.Cys333=) c.1045T= (p.Cys349=) c.982T= (p.Cys328=) n.1123T= | |
| 16 | g.20348298A>C | CA256252 | UMOD | c.898T>G (p.Cys300Gly) c.997T>G (p.Cys333Gly) c.1045T>G (p.Cys349Gly) c.982T>G (p.Cys328Gly) n.1123T>G | ClinVar dbSNP |
| 16 | g.20348298A>G | CA394983880 | UMOD | c.898T>C (p.Cys300Arg) c.997T>C (p.Cys333Arg) c.1045T>C (p.Cys349Arg) c.982T>C (p.Cys328Arg) n.1123T>C | |
| 16 | g.20348298A>T | CA394983878 | UMOD | c.898T>A (p.Cys300Ser) c.997T>A (p.Cys333Ser) c.1045T>A (p.Cys349Ser) c.982T>A (p.Cys328Ser) n.1123T>A | ClinVar dbSNP |
| 16 | g.20348299C>A | CA7939363 | UMOD | c.897G>T (p.Glu299Asp) c.996G>T (p.Glu332Asp) c.1044G>T (p.Glu348Asp) c.981G>T (p.Glu327Asp) n.1122G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348299C= | CA2211941399 | UMOD | c.897G= (p.Glu299=) c.996G= (p.Glu332=) c.1044G= (p.Glu348=) c.981G= (p.Glu327=) n.1122G= | |
| 16 | g.20348299C>G | CA394983882 | UMOD | c.897G>C (p.Glu299Asp) c.996G>C (p.Glu332Asp) c.1044G>C (p.Glu348Asp) c.981G>C (p.Glu327Asp) n.1122G>C | gnomAD v4 |
| 16 | g.20348299C>T | CA494096883 | UMOD | c.897G>A (p.Glu299=) c.996G>A (p.Glu332=) c.1044G>A (p.Glu348=) c.981G>A (p.Glu327=) n.1122G>A | |
| 16 | g.20348300T>A | CA394983884 | UMOD | c.896A>T (p.Glu299Val) c.995A>T (p.Glu332Val) c.1043A>T (p.Glu348Val) c.980A>T (p.Glu327Val) n.1121A>T | |
| 16 | g.20348300T>C | CA7939364 | UMOD | c.896A>G (p.Glu299Gly) c.995A>G (p.Glu332Gly) c.1043A>G (p.Glu348Gly) c.980A>G (p.Glu327Gly) n.1121A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348300T>G | CA394983886 | UMOD | c.896A>C (p.Glu299Ala) c.995A>C (p.Glu332Ala) c.1043A>C (p.Glu348Ala) c.980A>C (p.Glu327Ala) n.1121A>C | |
| 16 | g.20348300T= | CA2211941403 | UMOD | c.896A= (p.Glu299=) c.995A= (p.Glu332=) c.1043A= (p.Glu348=) c.980A= (p.Glu327=) n.1121A= | |
| 16 | g.20348301C>A | CA394983888 | UMOD | c.895G>T (p.Glu299Ter) c.994G>T (p.Glu332Ter) c.1042G>T (p.Glu348Ter) c.979G>T (p.Glu327Ter) n.1120G>T | |
| 16 | g.20348301C= | CA2211941407 | UMOD | c.895G= (p.Glu299=) c.994G= (p.Glu332=) c.1042G= (p.Glu348=) c.979G= (p.Glu327=) n.1120G= | |
| 16 | g.20348301C>G | CA394983889 | UMOD | c.895G>C (p.Glu299Gln) c.994G>C (p.Glu332Gln) c.1042G>C (p.Glu348Gln) c.979G>C (p.Glu327Gln) n.1120G>C | |
| 16 | g.20348301C>T | CA394983891 | UMOD | c.895G>A (p.Glu299Lys) c.994G>A (p.Glu332Lys) c.1042G>A (p.Glu348Lys) c.979G>A (p.Glu327Lys) n.1120G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.20348302C>A | CA394983893 | UMOD | c.894G>T (p.Glu298Asp) c.993G>T (p.Glu331Asp) c.1041G>T (p.Glu347Asp) c.978G>T (p.Glu326Asp) n.1119G>T | |
| 16 | g.20348302C= | CA2211941414 | UMOD | c.894G= (p.Glu298=) c.993G= (p.Glu331=) c.1041G= (p.Glu347=) c.978G= (p.Glu326=) n.1119G= | |
| 16 | g.20348302C>G | CA7939365 | UMOD | c.894G>C (p.Glu298Asp) c.993G>C (p.Glu331Asp) c.1041G>C (p.Glu347Asp) c.978G>C (p.Glu326Asp) n.1119G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348302C>T | CA494096890 | UMOD | c.894G>A (p.Glu298=) c.993G>A (p.Glu331=) c.1041G>A (p.Glu347=) c.978G>A (p.Glu326=) n.1119G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.20348303T>A | CA394983895 | UMOD | c.893A>T (p.Glu298Val) c.992A>T (p.Glu331Val) c.1040A>T (p.Glu347Val) c.977A>T (p.Glu326Val) n.1118A>T | |
| 16 | g.20348303T>C | CA394983896 | UMOD | c.893A>G (p.Glu298Gly) c.992A>G (p.Glu331Gly) c.1040A>G (p.Glu347Gly) c.977A>G (p.Glu326Gly) n.1118A>G | |
| 16 | g.20348303T>G | CA394983897 | UMOD | c.893A>C (p.Glu298Ala) c.992A>C (p.Glu331Ala) c.1040A>C (p.Glu347Ala) c.977A>C (p.Glu326Ala) n.1118A>C | |
| 16 | g.20348304C>A | CA394983899 | UMOD | c.892G>T (p.Glu298Ter) c.991G>T (p.Glu331Ter) c.1039G>T (p.Glu347Ter) c.976G>T (p.Glu326Ter) n.1117G>T | |
| 16 | g.20348304C= | CA2211941423 | UMOD | c.892G= (p.Glu298=) c.991G= (p.Glu331=) c.1039G= (p.Glu347=) c.976G= (p.Glu326=) n.1117G= | |
| 16 | g.20348304C>G | CA394983901 | UMOD | c.892G>C (p.Glu298Gln) c.991G>C (p.Glu331Gln) c.1039G>C (p.Glu347Gln) c.976G>C (p.Glu326Gln) n.1117G>C | |
| 16 | g.20348304C>T | CA7939366 | UMOD | c.892G>A (p.Glu298Lys) c.991G>A (p.Glu331Lys) c.1039G>A (p.Glu347Lys) c.976G>A (p.Glu326Lys) n.1117G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348305A>C | CA394983903 | UMOD | c.891T>G (p.Cys297Trp) c.990T>G (p.Cys330Trp) c.1038T>G (p.Cys346Trp) c.975T>G (p.Cys325Trp) n.1116T>G | |
| 16 | g.20348305A>G | CA494096895 | UMOD | c.891T>C (p.Cys297=) c.990T>C (p.Cys330=) c.1038T>C (p.Cys346=) c.975T>C (p.Cys325=) n.1116T>C | |
| 16 | g.20348305A>T | CA394983904 | UMOD | c.891T>A (p.Cys297Ter) c.990T>A (p.Cys330Ter) c.1038T>A (p.Cys346Ter) c.975T>A (p.Cys325Ter) n.1116T>A | |
| 16 | g.20348306C>A | CA394983906 | UMOD | c.890G>T (p.Cys297Phe) c.989G>T (p.Cys330Phe) c.1037G>T (p.Cys346Phe) c.974G>T (p.Cys325Phe) n.1115G>T | |
| 16 | g.20348306C= | CA2211941431 | UMOD | c.890G= (p.Cys297=) c.989G= (p.Cys330=) c.1037G= (p.Cys346=) c.974G= (p.Cys325=) n.1115G= | |
| 16 | g.20348306C>G | CA394983907 | UMOD | c.890G>C (p.Cys297Ser) c.989G>C (p.Cys330Ser) c.1037G>C (p.Cys346Ser) c.974G>C (p.Cys325Ser) n.1115G>C | |
| 16 | g.20348306C>T | CA394983909 | UMOD | c.890G>A (p.Cys297Tyr) c.989G>A (p.Cys330Tyr) c.1037G>A (p.Cys346Tyr) c.974G>A (p.Cys325Tyr) n.1115G>A | ClinVar dbSNP |
| 16 | g.20348307A>C | CA394983911 | UMOD | c.889T>G (p.Cys297Gly) c.988T>G (p.Cys330Gly) c.1036T>G (p.Cys346Gly) c.973T>G (p.Cys325Gly) n.1114T>G | |
| 16 | g.20348307A>G | CA394983912 | UMOD | c.889T>C (p.Cys297Arg) c.988T>C (p.Cys330Arg) c.1036T>C (p.Cys346Arg) c.973T>C (p.Cys325Arg) n.1114T>C | |
| 16 | g.20348307A>T | CA394983913 | UMOD | c.889T>A (p.Cys297Ser) c.988T>A (p.Cys330Ser) c.1036T>A (p.Cys346Ser) c.973T>A (p.Cys325Ser) n.1114T>A | |
| 16 | g.20348308C>A | CA7939367 | UMOD | c.888G>T (p.Thr296=) c.987G>T (p.Thr329=) c.1035G>T (p.Thr345=) c.972G>T (p.Thr324=) n.1113G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348308C= | CA2211941435 | UMOD | c.888G= (p.Thr296=) c.987G= (p.Thr329=) c.1035G= (p.Thr345=) c.972G= (p.Thr324=) n.1113G= | |
| 16 | g.20348308C>G | CA494096913 | UMOD | c.888G>C (p.Thr296=) c.987G>C (p.Thr329=) c.1035G>C (p.Thr345=) c.972G>C (p.Thr324=) n.1113G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348308C>T | CA7939368 | UMOD | c.888G>A (p.Thr296=) c.987G>A (p.Thr329=) c.1035G>A (p.Thr345=) c.972G>A (p.Thr324=) n.1113G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 16 | g.20348309_20348313del | CA2632114945 | UMOD | c.884_888del (p.Gly295ValfsTer2) c.983_987del (p.Gly328ValfsTer2) c.1031_1035del (p.Gly344ValfsTer2) c.968_972del (p.Gly323ValfsTer2) n.1109_1113del | gnomAD v4 |
| 16 | g.20348309G>A | CA394983920 | UMOD | c.887C>T (p.Thr296Met) c.986C>T (p.Thr329Met) c.1034C>T (p.Thr345Met) c.971C>T (p.Thr324Met) n.1112C>T | gnomAD v4 |
| 16 | g.20348309G>C | CA394983918 | UMOD | c.887C>G (p.Thr296Arg) c.986C>G (p.Thr329Arg) c.1034C>G (p.Thr345Arg) c.971C>G (p.Thr324Arg) n.1112C>G | |
| 16 | g.20348309G>T | CA394983916 | UMOD | c.887C>A (p.Thr296Lys) c.986C>A (p.Thr329Lys) c.1034C>A (p.Thr345Lys) c.971C>A (p.Thr324Lys) n.1112C>A | |
| 16 | g.20348310T>A | CA394983921 | UMOD | c.886A>T (p.Thr296Ser) c.985A>T (p.Thr329Ser) c.1033A>T (p.Thr345Ser) c.970A>T (p.Thr324Ser) n.1111A>T | |
| 16 | g.20348310T>C | CA394983922 | UMOD | c.886A>G (p.Thr296Ala) c.985A>G (p.Thr329Ala) c.1033A>G (p.Thr345Ala) c.970A>G (p.Thr324Ala) n.1111A>G | |
| 16 | g.20348310T>G | CA394983923 | UMOD | c.886A>C (p.Thr296Pro) c.985A>C (p.Thr329Pro) c.1033A>C (p.Thr345Pro) c.970A>C (p.Thr324Pro) n.1111A>C | |
| 16 | g.20348311C>A | CA494096916 | UMOD | c.885G>T (p.Gly295=) c.984G>T (p.Gly328=) c.1032G>T (p.Gly344=) c.969G>T (p.Gly323=) n.1110G>T | gnomAD v4 |
| 16 | g.20348311C= | CA2211941443 | UMOD | c.885G= (p.Gly295=) c.984G= (p.Gly328=) c.1032G= (p.Gly344=) c.969G= (p.Gly323=) n.1110G= | |
| 16 | g.20348311C>G | CA7939369 | UMOD | c.885G>C (p.Gly295=) c.984G>C (p.Gly328=) c.1032G>C (p.Gly344=) c.969G>C (p.Gly323=) n.1110G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348311C>T | CA147651 | UMOD | c.885G>A (p.Gly295=) c.984G>A (p.Gly328=) c.1032G>A (p.Gly344=) c.969G>A (p.Gly323=) n.1110G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348312C>A | CA394983925 | UMOD | c.884G>T (p.Gly295Val) c.983G>T (p.Gly328Val) c.1031G>T (p.Gly344Val) c.968G>T (p.Gly323Val) n.1109G>T | |
| 16 | g.20348312C= | CA2211941448 | UMOD | c.884G= (p.Gly295=) c.983G= (p.Gly328=) c.1031G= (p.Gly344=) c.968G= (p.Gly323=) n.1109G= | |
| 16 | g.20348312C>G | CA7939370 | UMOD | c.884G>C (p.Gly295Ala) c.983G>C (p.Gly328Ala) c.1031G>C (p.Gly344Ala) c.968G>C (p.Gly323Ala) n.1109G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348312C>T | CA394983927 | UMOD | c.884G>A (p.Gly295Glu) c.983G>A (p.Gly328Glu) c.1031G>A (p.Gly344Glu) c.968G>A (p.Gly323Glu) n.1109G>A | |
| 16 | g.20348313C>A | CA394983929 | UMOD | c.883G>T (p.Gly295Trp) c.982G>T (p.Gly328Trp) c.1030G>T (p.Gly344Trp) c.967G>T (p.Gly323Trp) n.1108G>T | |
| 16 | g.20348313C= | CA2211941451 | UMOD | c.883G= (p.Gly295=) c.982G= (p.Gly328=) c.1030G= (p.Gly344=) c.967G= (p.Gly323=) n.1108G= | |
| 16 | g.20348313C>G | CA394983930 | UMOD | c.883G>C (p.Gly295Arg) c.982G>C (p.Gly328Arg) c.1030G>C (p.Gly344Arg) c.967G>C (p.Gly323Arg) n.1108G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.20348313C>T | CA394983934 | UMOD | c.883G>A (p.Gly295Arg) c.982G>A (p.Gly328Arg) c.1030G>A (p.Gly344Arg) c.967G>A (p.Gly323Arg) n.1108G>A | |
| 16 | g.20348314C>A | CA394983936 | UMOD | c.882G>T (p.Glu294Asp) c.981G>T (p.Glu327Asp) c.1029G>T (p.Glu343Asp) c.966G>T (p.Glu322Asp) n.1107G>T | |
| 16 | g.20348314C>G | CA394983938 | UMOD | c.882G>C (p.Glu294Asp) c.981G>C (p.Glu327Asp) c.1029G>C (p.Glu343Asp) c.966G>C (p.Glu322Asp) n.1107G>C | |
| 16 | g.20348314C>T | CA494096931 | UMOD | c.882G>A (p.Glu294=) c.981G>A (p.Glu327=) c.1029G>A (p.Glu343=) c.966G>A (p.Glu322=) n.1107G>A | |
| 16 | g.20348315T>A | CA394983948 | UMOD | c.881A>T (p.Glu294Val) c.980A>T (p.Glu327Val) c.1028A>T (p.Glu343Val) c.965A>T (p.Glu322Val) n.1106A>T | |
| 16 | g.20348315T>C | CA394983939 | UMOD | c.881A>G (p.Glu294Gly) c.980A>G (p.Glu327Gly) c.1028A>G (p.Glu343Gly) c.965A>G (p.Glu322Gly) n.1106A>G | |
| 16 | g.20348315T>G | CA394983941 | UMOD | c.881A>C (p.Glu294Ala) c.980A>C (p.Glu327Ala) c.1028A>C (p.Glu343Ala) c.965A>C (p.Glu322Ala) n.1106A>C | |
| 16 | g.20348316C>A | CA394983950 | UMOD | c.880G>T (p.Glu294Ter) c.979G>T (p.Glu327Ter) c.1027G>T (p.Glu343Ter) c.964G>T (p.Glu322Ter) n.1105G>T | |
| 16 | g.20348316C= | CA2211941455 | UMOD | c.880G= (p.Glu294=) c.979G= (p.Glu327=) c.1027G= (p.Glu343=) c.964G= (p.Glu322=) n.1105G= | |
| 16 | g.20348316C>G | CA394983952 | UMOD | c.880G>C (p.Glu294Gln) c.979G>C (p.Glu327Gln) c.1027G>C (p.Glu343Gln) c.964G>C (p.Glu322Gln) n.1105G>C | |
| 16 | g.20348316C>T | CA279299369 | UMOD | c.880G>A (p.Glu294Lys) c.979G>A (p.Glu327Lys) c.1027G>A (p.Glu343Lys) c.964G>A (p.Glu322Lys) n.1105G>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.20348317C>A | CA494096945 | UMOD | c.879G>T (p.Val293=) c.978G>T (p.Val326=) c.1026G>T (p.Val342=) c.963G>T (p.Val321=) n.1104G>T | |
| 16 | g.20348317C>G | CA494096943 | UMOD | c.879G>C (p.Val293=) c.978G>C (p.Val326=) c.1026G>C (p.Val342=) c.963G>C (p.Val321=) n.1104G>C | |
| 16 | g.20348317C>T | CA494096941 | UMOD | c.879G>A (p.Val293=) c.978G>A (p.Val326=) c.1026G>A (p.Val342=) c.963G>A (p.Val321=) n.1104G>A | |
| 16 | g.20348318A= | CA2211941461 | UMOD | c.878T= (p.Val293=) c.977T= (p.Val326=) c.1025T= (p.Val342=) c.962T= (p.Val321=) n.1103T= | |
| 16 | g.20348318A>C | CA394983955 | UMOD | c.878T>G (p.Val293Gly) c.977T>G (p.Val326Gly) c.1025T>G (p.Val342Gly) c.962T>G (p.Val321Gly) n.1103T>G | |
| 16 | g.20348318A>G | CA279299370 | UMOD | c.878T>C (p.Val293Ala) c.977T>C (p.Val326Ala) c.1025T>C (p.Val342Ala) c.962T>C (p.Val321Ala) n.1103T>C | dbSNP gnomAD v4 |
| 16 | g.20348318A>T | CA394983957 | UMOD | c.878T>A (p.Val293Glu) c.977T>A (p.Val326Glu) c.1025T>A (p.Val342Glu) c.962T>A (p.Val321Glu) n.1103T>A | |
| 16 | g.20348319C>A | CA394983959 | UMOD | c.877G>T (p.Val293Leu) c.976G>T (p.Val326Leu) c.1024G>T (p.Val342Leu) c.961G>T (p.Val321Leu) n.1102G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348319C= | CA2211941467 | UMOD | c.877G= (p.Val293=) c.976G= (p.Val326=) c.1024G= (p.Val342=) c.961G= (p.Val321=) n.1102G= | |
| 16 | g.20348319C>G | CA394983960 | UMOD | c.877G>C (p.Val293Leu) c.976G>C (p.Val326Leu) c.1024G>C (p.Val342Leu) c.961G>C (p.Val321Leu) n.1102G>C | |
| 16 | g.20348319C>T | CA394983961 | UMOD | c.877G>A (p.Val293Met) c.976G>A (p.Val326Met) c.1024G>A (p.Val342Met) c.961G>A (p.Val321Met) n.1102G>A | gnomAD v4 COSMIC COSMIC |
| 16 | g.20348320G>A | CA494096961 | UMOD | c.876C>T (p.Ser292=) c.975C>T (p.Ser325=) c.1023C>T (p.Ser341=) c.960C>T (p.Ser320=) n.1101C>T | |
| 16 | g.20348320G>C | CA494096962 | UMOD | c.876C>G (p.Ser292=) c.975C>G (p.Ser325=) c.1023C>G (p.Ser341=) c.960C>G (p.Ser320=) n.1101C>G | |
| 16 | g.20348320G>T | CA494096963 | UMOD | c.876C>A (p.Ser292=) c.975C>A (p.Ser325=) c.1023C>A (p.Ser341=) c.960C>A (p.Ser320=) n.1101C>A | |
| 16 | g.20348321G>A | CA394983962 | UMOD | c.875C>T (p.Ser292Phe) c.974C>T (p.Ser325Phe) c.1022C>T (p.Ser341Phe) c.959C>T (p.Ser320Phe) n.1100C>T | |
| 16 | g.20348321G>C | CA394983963 | UMOD | c.875C>G (p.Ser292Cys) c.974C>G (p.Ser325Cys) c.1022C>G (p.Ser341Cys) c.959C>G (p.Ser320Cys) n.1100C>G | |
| 16 | g.20348321G= | CA2211941472 | UMOD | c.875C= (p.Ser292=) c.974C= (p.Ser325=) c.1022C= (p.Ser341=) c.959C= (p.Ser320=) n.1100C= | |
| 16 | g.20348321G>T | CA7939371 | UMOD | c.875C>A (p.Ser292Tyr) c.974C>A (p.Ser325Tyr) c.1022C>A (p.Ser341Tyr) c.959C>A (p.Ser320Tyr) n.1100C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348322A>C | CA394983966 | UMOD | c.874T>G (p.Ser292Ala) c.973T>G (p.Ser325Ala) c.1021T>G (p.Ser341Ala) c.958T>G (p.Ser320Ala) n.1099T>G | |
| 16 | g.20348322A>G | CA394983969 | UMOD | c.874T>C (p.Ser292Pro) c.973T>C (p.Ser325Pro) c.1021T>C (p.Ser341Pro) c.958T>C (p.Ser320Pro) n.1099T>C | |
| 16 | g.20348322A>T | CA394983967 | UMOD | c.874T>A (p.Ser292Thr) c.973T>A (p.Ser325Thr) c.1021T>A (p.Ser341Thr) c.958T>A (p.Ser320Thr) n.1099T>A | |
| 16 | g.20348323G>A | CA494096972 | UMOD | c.873C>T (p.Ser291=) c.972C>T (p.Ser324=) c.1020C>T (p.Ser340=) c.957C>T (p.Ser319=) n.1098C>T | |
| 16 | g.20348323G>C | CA394983970 | UMOD | c.873C>G (p.Ser291Arg) c.972C>G (p.Ser324Arg) c.1020C>G (p.Ser340Arg) c.957C>G (p.Ser319Arg) n.1098C>G | dbSNP gnomAD v4 |
| 16 | g.20348323G= | CA2211941477 | UMOD | c.873C= (p.Ser291=) c.972C= (p.Ser324=) c.1020C= (p.Ser340=) c.957C= (p.Ser319=) n.1098C= | |
| 16 | g.20348323G>T | CA394983972 | UMOD | c.873C>A (p.Ser291Arg) c.972C>A (p.Ser324Arg) c.1020C>A (p.Ser340Arg) c.957C>A (p.Ser319Arg) n.1098C>A | gnomAD v4 |