Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.173904019A=CA1207934388SERPINC1c.1265T= (p.Ile422=)
c.650T= (p.Ile217=)
c.1121T= (p.Ile374=)
c.1388T= (p.Ile463=)
c.1346T= (p.Ile449=)
c.1244T= (p.Ile415=)
c.1208T= (p.Ile403=)
c.1049T= (p.Ile350=)
1g.173904019A>CCA343772608SERPINC1c.1265T>G (p.Ile422Ser)
c.650T>G (p.Ile217Ser)
c.1121T>G (p.Ile374Ser)
c.1388T>G (p.Ile463Ser)
c.1346T>G (p.Ile449Ser)
c.1244T>G (p.Ile415Ser)
c.1208T>G (p.Ile403Ser)
c.1049T>G (p.Ile350Ser)
1g.173904019A>GCA1251223SERPINC1c.1265T>C (p.Ile422Thr)
c.650T>C (p.Ile217Thr)
c.1121T>C (p.Ile374Thr)
c.1388T>C (p.Ile463Thr)
c.1346T>C (p.Ile449Thr)
c.1244T>C (p.Ile415Thr)
c.1208T>C (p.Ile403Thr)
c.1049T>C (p.Ile350Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173904019A>TCA343772609SERPINC1c.1265T>A (p.Ile422Asn)
c.650T>A (p.Ile217Asn)
c.1121T>A (p.Ile374Asn)
c.1388T>A (p.Ile463Asn)
c.1346T>A (p.Ile449Asn)
c.1244T>A (p.Ile415Asn)
c.1208T>A (p.Ile403Asn)
c.1049T>A (p.Ile350Asn)
1g.173904020delCA2586967710SERPINC1c.1264del (p.Ile422LeufsTer6)
c.649del (p.Ile217LeufsTer6)
c.1120del (p.Ile374LeufsTer6)
c.1387del (p.Ile463LeufsTer6)
c.1345del (p.Ile449LeufsTer6)
c.1243del (p.Ile415LeufsTer6)
c.1207del (p.Ile403LeufsTer6)
c.1048del (p.Ile350LeufsTer6)
1g.173904020T>ACA343772612SERPINC1c.1264A>T (p.Ile422Phe)
c.649A>T (p.Ile217Phe)
c.1120A>T (p.Ile374Phe)
c.1387A>T (p.Ile463Phe)
c.1345A>T (p.Ile449Phe)
c.1243A>T (p.Ile415Phe)
c.1207A>T (p.Ile403Phe)
c.1048A>T (p.Ile350Phe)
1g.173904020T>CCA343772611SERPINC1c.1264A>G (p.Ile422Val)
c.649A>G (p.Ile217Val)
c.1120A>G (p.Ile374Val)
c.1387A>G (p.Ile463Val)
c.1345A>G (p.Ile449Val)
c.1243A>G (p.Ile415Val)
c.1207A>G (p.Ile403Val)
c.1048A>G (p.Ile350Val)
1g.173904020T>GCA343772610SERPINC1c.1264A>C (p.Ile422Leu)
c.649A>C (p.Ile217Leu)
c.1120A>C (p.Ile374Leu)
c.1387A>C (p.Ile463Leu)
c.1345A>C (p.Ile449Leu)
c.1243A>C (p.Ile415Leu)
c.1207A>C (p.Ile403Leu)
c.1048A>C (p.Ile350Leu)
1g.173904021C>ACA421821576SERPINC1c.1263G>T (p.Val421=)
c.648G>T (p.Val216=)
c.1119G>T (p.Val373=)
c.1386G>T (p.Val462=)
c.1344G>T (p.Val448=)
c.1242G>T (p.Val414=)
c.1206G>T (p.Val402=)
c.1047G>T (p.Val349=)
1g.173904021C>GCA421821577SERPINC1c.1263G>C (p.Val421=)
c.648G>C (p.Val216=)
c.1119G>C (p.Val373=)
c.1386G>C (p.Val462=)
c.1344G>C (p.Val448=)
c.1242G>C (p.Val414=)
c.1206G>C (p.Val402=)
c.1047G>C (p.Val349=)
1g.173904021C>TCA421821578SERPINC1c.1263G>A (p.Val421=)
c.648G>A (p.Val216=)
c.1119G>A (p.Val373=)
c.1386G>A (p.Val462=)
c.1344G>A (p.Val448=)
c.1242G>A (p.Val414=)
c.1206G>A (p.Val402=)
c.1047G>A (p.Val349=)
 gnomAD v4
1g.173904022A>CCA343772613SERPINC1c.1262T>G (p.Val421Gly)
c.647T>G (p.Val216Gly)
c.1118T>G (p.Val373Gly)
c.1385T>G (p.Val462Gly)
c.1343T>G (p.Val448Gly)
c.1241T>G (p.Val414Gly)
c.1205T>G (p.Val402Gly)
c.1046T>G (p.Val349Gly)
1g.173904022A>GCA343772615SERPINC1c.1262T>C (p.Val421Ala)
c.647T>C (p.Val216Ala)
c.1118T>C (p.Val373Ala)
c.1385T>C (p.Val462Ala)
c.1343T>C (p.Val448Ala)
c.1241T>C (p.Val414Ala)
c.1205T>C (p.Val402Ala)
c.1046T>C (p.Val349Ala)
1g.173904022A>TCA343772614SERPINC1c.1262T>A (p.Val421Glu)
c.647T>A (p.Val216Glu)
c.1118T>A (p.Val373Glu)
c.1385T>A (p.Val462Glu)
c.1343T>A (p.Val448Glu)
c.1241T>A (p.Val414Glu)
c.1205T>A (p.Val402Glu)
c.1046T>A (p.Val349Glu)
1g.173904023C>ACA343772616SERPINC1c.1261G>T (p.Val421Leu)
c.646G>T (p.Val216Leu)
c.1117G>T (p.Val373Leu)
c.1384G>T (p.Val462Leu)
c.1342G>T (p.Val448Leu)
c.1240G>T (p.Val414Leu)
c.1204G>T (p.Val402Leu)
c.1045G>T (p.Val349Leu)
 gnomAD v4
1g.173904023C=CA1207934389SERPINC1c.1261G= (p.Val421=)
c.646G= (p.Val216=)
c.1117G= (p.Val373=)
c.1384G= (p.Val462=)
c.1342G= (p.Val448=)
c.1240G= (p.Val414=)
c.1204G= (p.Val402=)
c.1045G= (p.Val349=)
1g.173904023C>GCA343772618SERPINC1c.1261G>C (p.Val421Leu)
c.646G>C (p.Val216Leu)
c.1117G>C (p.Val373Leu)
c.1384G>C (p.Val462Leu)
c.1342G>C (p.Val448Leu)
c.1240G>C (p.Val414Leu)
c.1204G>C (p.Val402Leu)
c.1045G>C (p.Val349Leu)
 gnomAD v4
1g.173904023C>TCA343772617SERPINC1c.1261G>A (p.Val421Met)
c.646G>A (p.Val216Met)
c.1117G>A (p.Val373Met)
c.1384G>A (p.Val462Met)
c.1342G>A (p.Val448Met)
c.1240G>A (p.Val414Met)
c.1204G>A (p.Val402Met)
c.1045G>A (p.Val349Met)
1g.173904024A>CCA421821581SERPINC1c.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=)
1g.173904024A>GCA421821583SERPINC1c.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=)
1g.173904024A>TCA421821584SERPINC1c.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=)
1g.173904025dupCA891309690SERPINC1c.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
1g.173904025A=CA1207934390SERPINC1c.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=)
1g.173904025A>CCA343772619SERPINC1c.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)
1g.173904025A>GCA343772621SERPINC1c.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
1g.173904025A>TCA343772620SERPINC1c.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)
1g.173904026C>ACA343772622SERPINC1c.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)
1g.173904026C=CA1143854640SERPINC1c.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=)
1g.173904026C>GCA1251224SERPINC1c.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
1g.173904026C>TCA32777291SERPINC1c.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
1g.173904027A>CCA421821587SERPINC1c.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=)
1g.173904027A>GCA421821588SERPINC1c.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=)
1g.173904027A>TCA421821589SERPINC1c.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=)
1g.173904028G>ACA210789SERPINC1c.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
1g.173904028G>CCA343772623SERPINC1c.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)
1g.173904028G=CA1141581240SERPINC1c.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=)
1g.173904028G>TCA343772624SERPINC1c.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)
1g.173904029C>ACA343772625SERPINC1c.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)
1g.173904029C=CA1146126601SERPINC1c.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=)
1g.173904029C>GCA343772626SERPINC1c.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)
1g.173904029C>TCA1251225SERPINC1c.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
1g.173904029_173904032dupCA2582343014SERPINC1c.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?)
1g.173904030G>ACA1251226SERPINC1c.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
1g.173904030G>CCA421821591SERPINC1c.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=)
1g.173904030G=CA1146675498SERPINC1c.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=)
1g.173904030G>TCA421821592SERPINC1c.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
1g.173904031G>ACA1251227SERPINC1c.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
1g.173904031G>CCA343772627SERPINC1c.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)
1g.173904031G=CA1207934391SERPINC1c.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=)
1g.173904031G>TCA343772628SERPINC1c.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)

Number of alleles fetched