UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173904024A>C | CA421821581 | SERPINC1 | c.1260T>G (p.Val420=) c.645T>G (p.Val215=) c.1116T>G (p.Val372=) c.1383T>G (p.Val461=) c.1341T>G (p.Val447=) c.1239T>G (p.Val413=) c.1203T>G (p.Val401=) c.1044T>G (p.Val348=) | |
| 1 | g.173904024A>G | CA421821583 | SERPINC1 | c.1260T>C (p.Val420=) c.645T>C (p.Val215=) c.1116T>C (p.Val372=) c.1383T>C (p.Val461=) c.1341T>C (p.Val447=) c.1239T>C (p.Val413=) c.1203T>C (p.Val401=) c.1044T>C (p.Val348=) | |
| 1 | g.173904024A>T | CA421821584 | SERPINC1 | c.1260T>A (p.Val420=) c.645T>A (p.Val215=) c.1116T>A (p.Val372=) c.1383T>A (p.Val461=) c.1341T>A (p.Val447=) c.1239T>A (p.Val413=) c.1203T>A (p.Val401=) c.1044T>A (p.Val348=) | |
| 1 | g.173904025dup | CA891309690 | SERPINC1 | c.1260dup (p.Val421CysfsTer?) c.645dup (p.Val216CysfsTer?) c.1116dup (p.Val373CysfsTer?) c.1383dup (p.Val462CysfsTer?) c.1341dup (p.Val448CysfsTer?) c.1239dup (p.Val414CysfsTer?) c.1203dup (p.Val402CysfsTer?) c.1044dup (p.Val349CysfsTer?) | dbSNP |
| 1 | g.173904025A= | CA1207934390 | SERPINC1 | c.1259T= (p.Val420=) c.644T= (p.Val215=) c.1115T= (p.Val372=) c.1382T= (p.Val461=) c.1340T= (p.Val447=) c.1238T= (p.Val413=) c.1202T= (p.Val401=) c.1043T= (p.Val348=) | |
| 1 | g.173904025A>C | CA343772619 | SERPINC1 | c.1259T>G (p.Val420Gly) c.644T>G (p.Val215Gly) c.1115T>G (p.Val372Gly) c.1382T>G (p.Val461Gly) c.1340T>G (p.Val447Gly) c.1238T>G (p.Val413Gly) c.1202T>G (p.Val401Gly) c.1043T>G (p.Val348Gly) | |
| 1 | g.173904025A>G | CA343772621 | SERPINC1 | c.1259T>C (p.Val420Ala) c.644T>C (p.Val215Ala) c.1115T>C (p.Val372Ala) c.1382T>C (p.Val461Ala) c.1340T>C (p.Val447Ala) c.1238T>C (p.Val413Ala) c.1202T>C (p.Val401Ala) c.1043T>C (p.Val348Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173904025A>T | CA343772620 | SERPINC1 | c.1259T>A (p.Val420Asp) c.644T>A (p.Val215Asp) c.1115T>A (p.Val372Asp) c.1382T>A (p.Val461Asp) c.1340T>A (p.Val447Asp) c.1238T>A (p.Val413Asp) c.1202T>A (p.Val401Asp) c.1043T>A (p.Val348Asp) | |
| 1 | g.173904026C>A | CA343772622 | SERPINC1 | c.1258G>T (p.Val420Phe) c.643G>T (p.Val215Phe) c.1114G>T (p.Val372Phe) c.1381G>T (p.Val461Phe) c.1339G>T (p.Val447Phe) c.1237G>T (p.Val413Phe) c.1201G>T (p.Val401Phe) c.1042G>T (p.Val348Phe) | |
| 1 | g.173904026C= | CA1143854640 | SERPINC1 | c.1258G= (p.Val420=) c.643G= (p.Val215=) c.1114G= (p.Val372=) c.1381G= (p.Val461=) c.1339G= (p.Val447=) c.1237G= (p.Val413=) c.1201G= (p.Val401=) c.1042G= (p.Val348=) | |
| 1 | g.173904026C>G | CA1251224 | SERPINC1 | c.1258G>C (p.Val420Leu) c.643G>C (p.Val215Leu) c.1114G>C (p.Val372Leu) c.1381G>C (p.Val461Leu) c.1339G>C (p.Val447Leu) c.1237G>C (p.Val413Leu) c.1201G>C (p.Val401Leu) c.1042G>C (p.Val348Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173904026C>T | CA32777291 | SERPINC1 | c.1258G>A (p.Val420Ile) c.643G>A (p.Val215Ile) c.1114G>A (p.Val372Ile) c.1381G>A (p.Val461Ile) c.1339G>A (p.Val447Ile) c.1237G>A (p.Val413Ile) c.1201G>A (p.Val401Ile) c.1042G>A (p.Val348Ile) | dbSNP |
| 1 | g.173904027A>C | CA421821587 | SERPINC1 | c.1257T>G (p.Ala419=) c.642T>G (p.Ala214=) c.1113T>G (p.Ala371=) c.1380T>G (p.Ala460=) c.1338T>G (p.Ala446=) c.1236T>G (p.Ala412=) c.1200T>G (p.Ala400=) c.1041T>G (p.Ala347=) | |
| 1 | g.173904027A>G | CA421821588 | SERPINC1 | c.1257T>C (p.Ala419=) c.642T>C (p.Ala214=) c.1113T>C (p.Ala371=) c.1380T>C (p.Ala460=) c.1338T>C (p.Ala446=) c.1236T>C (p.Ala412=) c.1200T>C (p.Ala400=) c.1041T>C (p.Ala347=) | |
| 1 | g.173904027A>T | CA421821589 | SERPINC1 | c.1257T>A (p.Ala419=) c.642T>A (p.Ala214=) c.1113T>A (p.Ala371=) c.1380T>A (p.Ala460=) c.1338T>A (p.Ala446=) c.1236T>A (p.Ala412=) c.1200T>A (p.Ala400=) c.1041T>A (p.Ala347=) | |
| 1 | g.173904028G>A | CA210789 | SERPINC1 | c.1256C>T (p.Ala419Val) c.641C>T (p.Ala214Val) c.1112C>T (p.Ala371Val) c.1379C>T (p.Ala460Val) c.1337C>T (p.Ala446Val) c.1235C>T (p.Ala412Val) c.1199C>T (p.Ala400Val) c.1040C>T (p.Ala347Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904028G>C | CA343772623 | SERPINC1 | c.1256C>G (p.Ala419Gly) c.641C>G (p.Ala214Gly) c.1112C>G (p.Ala371Gly) c.1379C>G (p.Ala460Gly) c.1337C>G (p.Ala446Gly) c.1235C>G (p.Ala412Gly) c.1199C>G (p.Ala400Gly) c.1040C>G (p.Ala347Gly) | |
| 1 | g.173904028G= | CA1141581240 | SERPINC1 | c.1256C= (p.Ala419=) c.641C= (p.Ala214=) c.1112C= (p.Ala371=) c.1379C= (p.Ala460=) c.1337C= (p.Ala446=) c.1235C= (p.Ala412=) c.1199C= (p.Ala400=) c.1040C= (p.Ala347=) | |
| 1 | g.173904028G>T | CA343772624 | SERPINC1 | c.1256C>A (p.Ala419Asp) c.641C>A (p.Ala214Asp) c.1112C>A (p.Ala371Asp) c.1379C>A (p.Ala460Asp) c.1337C>A (p.Ala446Asp) c.1235C>A (p.Ala412Asp) c.1199C>A (p.Ala400Asp) c.1040C>A (p.Ala347Asp) | |
| 1 | g.173904029C>A | CA343772625 | SERPINC1 | c.1255G>T (p.Ala419Ser) c.640G>T (p.Ala214Ser) c.1111G>T (p.Ala371Ser) c.1378G>T (p.Ala460Ser) c.1336G>T (p.Ala446Ser) c.1234G>T (p.Ala412Ser) c.1198G>T (p.Ala400Ser) c.1039G>T (p.Ala347Ser) | |
| 1 | g.173904029C= | CA1146126601 | SERPINC1 | c.1255G= (p.Ala419=) c.640G= (p.Ala214=) c.1111G= (p.Ala371=) c.1378G= (p.Ala460=) c.1336G= (p.Ala446=) c.1234G= (p.Ala412=) c.1198G= (p.Ala400=) c.1039G= (p.Ala347=) | |
| 1 | g.173904029C>G | CA343772626 | SERPINC1 | c.1255G>C (p.Ala419Pro) c.640G>C (p.Ala214Pro) c.1111G>C (p.Ala371Pro) c.1378G>C (p.Ala460Pro) c.1336G>C (p.Ala446Pro) c.1234G>C (p.Ala412Pro) c.1198G>C (p.Ala400Pro) c.1039G>C (p.Ala347Pro) | |
| 1 | g.173904029C>T | CA1251225 | SERPINC1 | c.1255G>A (p.Ala419Thr) c.640G>A (p.Ala214Thr) c.1111G>A (p.Ala371Thr) c.1378G>A (p.Ala460Thr) c.1336G>A (p.Ala446Thr) c.1234G>A (p.Ala412Thr) c.1198G>A (p.Ala400Thr) c.1039G>A (p.Ala347Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904029_173904032dup | CA2582343014 | SERPINC1 | c.1252_1255dup (p.Ala419AspfsTer?) c.637_640dup (p.Ala214AspfsTer?) c.1108_1111dup (p.Ala371AspfsTer?) c.1375_1378dup (p.Ala460AspfsTer?) c.1333_1336dup (p.Ala446AspfsTer?) c.1231_1234dup (p.Ala412AspfsTer?) c.1195_1198dup (p.Ala400AspfsTer?) c.1036_1039dup (p.Ala347AspfsTer?) | |
| 1 | g.173904030G>A | CA1251226 | SERPINC1 | c.1254C>T (p.Thr418=) c.639C>T (p.Thr213=) c.1110C>T (p.Thr370=) c.1377C>T (p.Thr459=) c.1335C>T (p.Thr445=) c.1233C>T (p.Thr411=) c.1197C>T (p.Thr399=) c.1038C>T (p.Thr346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904030G>C | CA421821591 | SERPINC1 | c.1254C>G (p.Thr418=) c.639C>G (p.Thr213=) c.1110C>G (p.Thr370=) c.1377C>G (p.Thr459=) c.1335C>G (p.Thr445=) c.1233C>G (p.Thr411=) c.1197C>G (p.Thr399=) c.1038C>G (p.Thr346=) | |
| 1 | g.173904030G= | CA1146675498 | SERPINC1 | c.1254C= (p.Thr418=) c.639C= (p.Thr213=) c.1110C= (p.Thr370=) c.1377C= (p.Thr459=) c.1335C= (p.Thr445=) c.1233C= (p.Thr411=) c.1197C= (p.Thr399=) c.1038C= (p.Thr346=) | |
| 1 | g.173904030G>T | CA421821592 | SERPINC1 | c.1254C>A (p.Thr418=) c.639C>A (p.Thr213=) c.1110C>A (p.Thr370=) c.1377C>A (p.Thr459=) c.1335C>A (p.Thr445=) c.1233C>A (p.Thr411=) c.1197C>A (p.Thr399=) c.1038C>A (p.Thr346=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173904031G>A | CA1251227 | SERPINC1 | c.1253C>T (p.Thr418Ile) c.638C>T (p.Thr213Ile) c.1109C>T (p.Thr370Ile) c.1376C>T (p.Thr459Ile) c.1334C>T (p.Thr445Ile) c.1232C>T (p.Thr411Ile) c.1196C>T (p.Thr399Ile) c.1037C>T (p.Thr346Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.173904031G>C | CA343772627 | SERPINC1 | c.1253C>G (p.Thr418Ser) c.638C>G (p.Thr213Ser) c.1109C>G (p.Thr370Ser) c.1376C>G (p.Thr459Ser) c.1334C>G (p.Thr445Ser) c.1232C>G (p.Thr411Ser) c.1196C>G (p.Thr399Ser) c.1037C>G (p.Thr346Ser) | |
| 1 | g.173904031G= | CA1207934391 | SERPINC1 | c.1253C= (p.Thr418=) c.638C= (p.Thr213=) c.1109C= (p.Thr370=) c.1376C= (p.Thr459=) c.1334C= (p.Thr445=) c.1232C= (p.Thr411=) c.1196C= (p.Thr399=) c.1037C= (p.Thr346=) | |
| 1 | g.173904031G>T | CA343772628 | SERPINC1 | c.1253C>A (p.Thr418Asn) c.638C>A (p.Thr213Asn) c.1109C>A (p.Thr370Asn) c.1376C>A (p.Thr459Asn) c.1334C>A (p.Thr445Asn) c.1232C>A (p.Thr411Asn) c.1196C>A (p.Thr399Asn) c.1037C>A (p.Thr346Asn) | |
| 1 | g.173904032T>A | CA343772631 | SERPINC1 | c.1252A>T (p.Thr418Ser) c.637A>T (p.Thr213Ser) c.1108A>T (p.Thr370Ser) c.1375A>T (p.Thr459Ser) c.1333A>T (p.Thr445Ser) c.1231A>T (p.Thr411Ser) c.1195A>T (p.Thr399Ser) c.1036A>T (p.Thr346Ser) | |
| 1 | g.173904032T>C | CA343772630 | SERPINC1 | c.1252A>G (p.Thr418Ala) c.637A>G (p.Thr213Ala) c.1108A>G (p.Thr370Ala) c.1375A>G (p.Thr459Ala) c.1333A>G (p.Thr445Ala) c.1231A>G (p.Thr411Ala) c.1195A>G (p.Thr399Ala) c.1036A>G (p.Thr346Ala) | |
| 1 | g.173904032T>G | CA343772629 | SERPINC1 | c.1252A>C (p.Thr418Pro) c.637A>C (p.Thr213Pro) c.1108A>C (p.Thr370Pro) c.1375A>C (p.Thr459Pro) c.1333A>C (p.Thr445Pro) c.1231A>C (p.Thr411Pro) c.1195A>C (p.Thr399Pro) c.1036A>C (p.Thr346Pro) | |
| 1 | g.173904033A>C | CA343772632 | SERPINC1 | c.1251T>G (p.Ser417Arg) c.636T>G (p.Ser212Arg) c.1107T>G (p.Ser369Arg) c.1374T>G (p.Ser458Arg) c.1332T>G (p.Ser444Arg) c.1230T>G (p.Ser410Arg) c.1194T>G (p.Ser398Arg) c.1035T>G (p.Ser345Arg) | |
| 1 | g.173904033A>G | CA421821594 | SERPINC1 | c.1251T>C (p.Ser417=) c.636T>C (p.Ser212=) c.1107T>C (p.Ser369=) c.1374T>C (p.Ser458=) c.1332T>C (p.Ser444=) c.1230T>C (p.Ser410=) c.1194T>C (p.Ser398=) c.1035T>C (p.Ser345=) | |
| 1 | g.173904033A>T | CA343772633 | SERPINC1 | c.1251T>A (p.Ser417Arg) c.636T>A (p.Ser212Arg) c.1107T>A (p.Ser369Arg) c.1374T>A (p.Ser458Arg) c.1332T>A (p.Ser444Arg) c.1230T>A (p.Ser410Arg) c.1194T>A (p.Ser398Arg) c.1035T>A (p.Ser345Arg) | |
| 1 | g.173904034C>A | CA343772634 | SERPINC1 | c.1250G>T (p.Ser417Ile) c.635G>T (p.Ser212Ile) c.1106G>T (p.Ser369Ile) c.1373G>T (p.Ser458Ile) c.1331G>T (p.Ser444Ile) c.1229G>T (p.Ser410Ile) c.1193G>T (p.Ser398Ile) c.1034G>T (p.Ser345Ile) | |
| 1 | g.173904034C= | CA1207934392 | SERPINC1 | c.1250G= (p.Ser417=) c.635G= (p.Ser212=) c.1106G= (p.Ser369=) c.1373G= (p.Ser458=) c.1331G= (p.Ser444=) c.1229G= (p.Ser410=) c.1193G= (p.Ser398=) c.1034G= (p.Ser345=) | |
| 1 | g.173904034C>G | CA343772635 | SERPINC1 | c.1250G>C (p.Ser417Thr) c.635G>C (p.Ser212Thr) c.1106G>C (p.Ser369Thr) c.1373G>C (p.Ser458Thr) c.1331G>C (p.Ser444Thr) c.1229G>C (p.Ser410Thr) c.1193G>C (p.Ser398Thr) c.1034G>C (p.Ser345Thr) | |
| 1 | g.173904034C>T | CA1251228 | SERPINC1 | c.1250G>A (p.Ser417Asn) c.635G>A (p.Ser212Asn) c.1106G>A (p.Ser369Asn) c.1373G>A (p.Ser458Asn) c.1331G>A (p.Ser444Asn) c.1229G>A (p.Ser410Asn) c.1193G>A (p.Ser398Asn) c.1034G>A (p.Ser345Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173904035T>A | CA343772636 | SERPINC1 | c.1249A>T (p.Ser417Cys) c.634A>T (p.Ser212Cys) c.1105A>T (p.Ser369Cys) c.1372A>T (p.Ser458Cys) c.1330A>T (p.Ser444Cys) c.1228A>T (p.Ser410Cys) c.1192A>T (p.Ser398Cys) c.1033A>T (p.Ser345Cys) | |
| 1 | g.173904035T>C | CA343772637 | SERPINC1 | c.1249A>G (p.Ser417Gly) c.634A>G (p.Ser212Gly) c.1105A>G (p.Ser369Gly) c.1372A>G (p.Ser458Gly) c.1330A>G (p.Ser444Gly) c.1228A>G (p.Ser410Gly) c.1192A>G (p.Ser398Gly) c.1033A>G (p.Ser345Gly) | |
| 1 | g.173904035T>G | CA343772638 | SERPINC1 | c.1249A>C (p.Ser417Arg) c.634A>C (p.Ser212Arg) c.1105A>C (p.Ser369Arg) c.1372A>C (p.Ser458Arg) c.1330A>C (p.Ser444Arg) c.1228A>C (p.Ser410Arg) c.1192A>C (p.Ser398Arg) c.1033A>C (p.Ser345Arg) | |
| 1 | g.173904036T>A | CA421821597 | SERPINC1 | c.1248A>T (p.Ala416=) c.633A>T (p.Ala211=) c.1104A>T (p.Ala368=) c.1371A>T (p.Ala457=) c.1329A>T (p.Ala443=) c.1227A>T (p.Ala409=) c.1191A>T (p.Ala397=) c.1032A>T (p.Ala344=) | |
| 1 | g.173904036T>C | CA421821598 | SERPINC1 | c.1248A>G (p.Ala416=) c.633A>G (p.Ala211=) c.1104A>G (p.Ala368=) c.1371A>G (p.Ala457=) c.1329A>G (p.Ala443=) c.1227A>G (p.Ala409=) c.1191A>G (p.Ala397=) c.1032A>G (p.Ala344=) | dbSNP |
| 1 | g.173904036T>G | CA421821599 | SERPINC1 | c.1248A>C (p.Ala416=) c.633A>C (p.Ala211=) c.1104A>C (p.Ala368=) c.1371A>C (p.Ala457=) c.1329A>C (p.Ala443=) c.1227A>C (p.Ala409=) c.1191A>C (p.Ala397=) c.1032A>C (p.Ala344=) | |
| 1 | g.173904036T= | CA1207934393 | SERPINC1 | c.1248A= (p.Ala416=) c.633A= (p.Ala211=) c.1104A= (p.Ala368=) c.1371A= (p.Ala457=) c.1329A= (p.Ala443=) c.1227A= (p.Ala409=) c.1191A= (p.Ala397=) c.1032A= (p.Ala344=) | |
| 1 | g.173904041_173904071del | CA2579754000 | SERPINC1 | c.1219-1_1248del c.604-1_633del c.1075-1_1104del c.1342-1_1371del c.1300-1_1329del c.1198-1_1227del c.1162-1_1191del c.1003-1_1032del |