Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.113399200T>ACA382644554ANKK1c.1231T>A (p.Cys411Ser)
c.1264T>A (p.Cys422Ser)
c.1234T>A (p.Cys412Ser)
c.1042T>A (p.Cys348Ser)
c.1261T>A (p.Cys421Ser)
 dbSNP gnomAD v4
11g.113399200T>CCA382644555ANKK1c.1231T>C (p.Cys411Arg)
c.1264T>C (p.Cys422Arg)
c.1234T>C (p.Cys412Arg)
c.1042T>C (p.Cys348Arg)
c.1261T>C (p.Cys421Arg)
11g.113399200T>GCA382644556ANKK1c.1231T>G (p.Cys411Gly)
c.1264T>G (p.Cys422Gly)
c.1234T>G (p.Cys412Gly)
c.1042T>G (p.Cys348Gly)
c.1261T>G (p.Cys421Gly)
11g.113399200T=CA2001151827ANKK1c.1231T= (p.Cys411=)
c.1264T= (p.Cys422=)
c.1234T= (p.Cys412=)
c.1042T= (p.Cys348=)
c.1261T= (p.Cys421=)
11g.113399201G>ACA6280905ANKK1c.1232G>A (p.Cys411Tyr)
c.1265G>A (p.Cys422Tyr)
c.1235G>A (p.Cys412Tyr)
c.1043G>A (p.Cys348Tyr)
c.1262G>A (p.Cys421Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399201G>CCA382644557ANKK1c.1232G>C (p.Cys411Ser)
c.1265G>C (p.Cys422Ser)
c.1235G>C (p.Cys412Ser)
c.1043G>C (p.Cys348Ser)
c.1262G>C (p.Cys421Ser)
11g.113399201G=CA2001151832ANKK1c.1232G= (p.Cys411=)
c.1265G= (p.Cys422=)
c.1235G= (p.Cys412=)
c.1043G= (p.Cys348=)
c.1262G= (p.Cys421=)
11g.113399201G>TCA382644558ANKK1c.1232G>T (p.Cys411Phe)
c.1265G>T (p.Cys422Phe)
c.1235G>T (p.Cys412Phe)
c.1043G>T (p.Cys348Phe)
c.1262G>T (p.Cys421Phe)
 dbSNP gnomAD v3 gnomAD v4
11g.113399202T>ACA382644559ANKK1c.1233T>A (p.Cys411Ter)
c.1266T>A (p.Cys422Ter)
c.1236T>A (p.Cys412Ter)
c.1044T>A (p.Cys348Ter)
c.1263T>A (p.Cys421Ter)
11g.113399202T>CCA477042769ANKK1c.1233T>C (p.Cys411=)
c.1266T>C (p.Cys422=)
c.1236T>C (p.Cys412=)
c.1044T>C (p.Cys348=)
c.1263T>C (p.Cys421=)
11g.113399202T>GCA382644560ANKK1c.1233T>G (p.Cys411Trp)
c.1266T>G (p.Cys422Trp)
c.1236T>G (p.Cys412Trp)
c.1044T>G (p.Cys348Trp)
c.1263T>G (p.Cys421Trp)
11g.113399203G>ACA382644561ANKK1c.1234G>A (p.Ala412Thr)
c.1267G>A (p.Ala423Thr)
c.1237G>A (p.Ala413Thr)
c.1045G>A (p.Ala349Thr)
c.1264G>A (p.Ala422Thr)
 gnomAD v4
11g.113399203G>CCA382644562ANKK1c.1234G>C (p.Ala412Pro)
c.1267G>C (p.Ala423Pro)
c.1237G>C (p.Ala413Pro)
c.1045G>C (p.Ala349Pro)
c.1264G>C (p.Ala422Pro)
11g.113399203G>TCA382644563ANKK1c.1234G>T (p.Ala412Ser)
c.1267G>T (p.Ala423Ser)
c.1237G>T (p.Ala413Ser)
c.1045G>T (p.Ala349Ser)
c.1264G>T (p.Ala422Ser)
11g.113399204C>ACA382644566ANKK1c.1235C>A (p.Ala412Asp)
c.1268C>A (p.Ala423Asp)
c.1238C>A (p.Ala413Asp)
c.1046C>A (p.Ala349Asp)
c.1265C>A (p.Ala422Asp)
 gnomAD v4
11g.113399204C=CA2001151837ANKK1c.1235C= (p.Ala412=)
c.1268C= (p.Ala423=)
c.1238C= (p.Ala413=)
c.1046C= (p.Ala349=)
c.1265C= (p.Ala422=)
11g.113399204C>GCA382644565ANKK1c.1235C>G (p.Ala412Gly)
c.1268C>G (p.Ala423Gly)
c.1238C>G (p.Ala413Gly)
c.1046C>G (p.Ala349Gly)
c.1265C>G (p.Ala422Gly)
11g.113399204C>TCA382644564ANKK1c.1235C>T (p.Ala412Val)
c.1268C>T (p.Ala423Val)
c.1238C>T (p.Ala413Val)
c.1046C>T (p.Ala349Val)
c.1265C>T (p.Ala422Val)
 dbSNP gnomAD v2 gnomAD v4
11g.113399206delCA2616032680ANKK1c.1237del (p.Leu413CysfsTer?)
c.1270del (p.Leu424CysfsTer?)
c.1240del (p.Leu414CysfsTer?)
c.1048del (p.Leu350CysfsTer?)
c.1267del (p.Leu423CysfsTer?)
 gnomAD v4
11g.113399205C>ACA477042774ANKK1c.1236C>A (p.Ala412=)
c.1269C>A (p.Ala423=)
c.1239C>A (p.Ala413=)
c.1047C>A (p.Ala349=)
c.1266C>A (p.Ala422=)
11g.113399205C>GCA477042776ANKK1c.1236C>G (p.Ala412=)
c.1269C>G (p.Ala423=)
c.1239C>G (p.Ala413=)
c.1047C>G (p.Ala349=)
c.1266C>G (p.Ala422=)
11g.113399205C>TCA477042777ANKK1c.1236C>T (p.Ala412=)
c.1269C>T (p.Ala423=)
c.1239C>T (p.Ala413=)
c.1047C>T (p.Ala349=)
c.1266C>T (p.Ala422=)
 gnomAD v4
11g.113399206C>ACA382644567ANKK1c.1237C>A (p.Leu413Met)
c.1270C>A (p.Leu424Met)
c.1240C>A (p.Leu414Met)
c.1048C>A (p.Leu350Met)
c.1267C>A (p.Leu423Met)
 gnomAD v4
11g.113399206C>GCA382644568ANKK1c.1237C>G (p.Leu413Val)
c.1270C>G (p.Leu424Val)
c.1240C>G (p.Leu414Val)
c.1048C>G (p.Leu350Val)
c.1267C>G (p.Leu423Val)
11g.113399206C>TCA477042778ANKK1c.1237C>T (p.Leu413=)
c.1270C>T (p.Leu424=)
c.1240C>T (p.Leu414=)
c.1048C>T (p.Leu350=)
c.1267C>T (p.Leu423=)
11g.113399207T>ACA382644569ANKK1c.1238T>A (p.Leu413Gln)
c.1271T>A (p.Leu424Gln)
c.1241T>A (p.Leu414Gln)
c.1049T>A (p.Leu350Gln)
c.1268T>A (p.Leu423Gln)
11g.113399207T>CCA382644570ANKK1c.1238T>C (p.Leu413Pro)
c.1271T>C (p.Leu424Pro)
c.1241T>C (p.Leu414Pro)
c.1049T>C (p.Leu350Pro)
c.1268T>C (p.Leu423Pro)
11g.113399207T>GCA382644571ANKK1c.1238T>G (p.Leu413Arg)
c.1271T>G (p.Leu424Arg)
c.1241T>G (p.Leu414Arg)
c.1049T>G (p.Leu350Arg)
c.1268T>G (p.Leu423Arg)
11g.113399208G>ACA477042781ANKK1c.1239G>A (p.Leu413=)
c.1272G>A (p.Leu424=)
c.1242G>A (p.Leu414=)
c.1050G>A (p.Leu350=)
c.1269G>A (p.Leu423=)
 dbSNP gnomAD v2 gnomAD v4
11g.113399208G>CCA477042780ANKK1c.1239G>C (p.Leu413=)
c.1272G>C (p.Leu424=)
c.1242G>C (p.Leu414=)
c.1050G>C (p.Leu350=)
c.1269G>C (p.Leu423=)
11g.113399208G=CA2001151840ANKK1c.1239G= (p.Leu413=)
c.1272G= (p.Leu424=)
c.1242G= (p.Leu414=)
c.1050G= (p.Leu350=)
c.1269G= (p.Leu423=)
11g.113399208G>TCA477042779ANKK1c.1239G>T (p.Leu413=)
c.1272G>T (p.Leu424=)
c.1242G>T (p.Leu414=)
c.1050G>T (p.Leu350=)
c.1269G>T (p.Leu423=)
11g.113399209C>ACA382644573ANKK1c.1240C>A (p.Leu414Ile)
c.1273C>A (p.Leu425Ile)
c.1243C>A (p.Leu415Ile)
c.1051C>A (p.Leu351Ile)
c.1270C>A (p.Leu424Ile)
 gnomAD v4
11g.113399209C>GCA382644574ANKK1c.1240C>G (p.Leu414Val)
c.1273C>G (p.Leu425Val)
c.1243C>G (p.Leu415Val)
c.1051C>G (p.Leu351Val)
c.1270C>G (p.Leu424Val)
11g.113399209C>TCA382644575ANKK1c.1240C>T (p.Leu414Phe)
c.1273C>T (p.Leu425Phe)
c.1243C>T (p.Leu415Phe)
c.1051C>T (p.Leu351Phe)
c.1270C>T (p.Leu424Phe)
 ClinVar gnomAD v4 COSMIC
11g.113399209_113399210delinsCTCA2001151843ANKK1c.1240_1241delinsCT (p.Leu414=)
c.1273_1274delinsCT (p.Leu425=)
c.1243_1244delinsCT (p.Leu415=)
c.1051_1052delinsCT (p.Leu351=)
c.1270_1271delinsCT (p.Leu424=)
11g.113399210T>ACA382644576ANKK1c.1241T>A (p.Leu414His)
c.1274T>A (p.Leu425His)
c.1244T>A (p.Leu415His)
c.1052T>A (p.Leu351His)
c.1271T>A (p.Leu424His)
11g.113399210T>CCA382644577ANKK1c.1241T>C (p.Leu414Pro)
c.1274T>C (p.Leu425Pro)
c.1244T>C (p.Leu415Pro)
c.1052T>C (p.Leu351Pro)
c.1271T>C (p.Leu424Pro)
11g.113399210T>GCA382644578ANKK1c.1241T>G (p.Leu414Arg)
c.1274T>G (p.Leu425Arg)
c.1244T>G (p.Leu415Arg)
c.1052T>G (p.Leu351Arg)
c.1271T>G (p.Leu424Arg)
11g.113399213delCA602135039ANKK1c.1244del (p.Leu415TrpfsTer?)
c.1277del (p.Leu426TrpfsTer?)
c.1247del (p.Leu416TrpfsTer?)
c.1055del (p.Leu352TrpfsTer?)
c.1274del (p.Leu425TrpfsTer?)
 dbSNP gnomAD v2 gnomAD v4
11g.113399211T>ACA477042787ANKK1c.1242T>A (p.Leu414=)
c.1275T>A (p.Leu425=)
c.1245T>A (p.Leu415=)
c.1053T>A (p.Leu351=)
c.1272T>A (p.Leu424=)
 gnomAD v4
11g.113399211T>CCA477042788ANKK1c.1242T>C (p.Leu414=)
c.1275T>C (p.Leu425=)
c.1245T>C (p.Leu415=)
c.1053T>C (p.Leu351=)
c.1272T>C (p.Leu424=)
11g.113399211T>GCA477042789ANKK1c.1242T>G (p.Leu414=)
c.1275T>G (p.Leu425=)
c.1245T>G (p.Leu415=)
c.1053T>G (p.Leu351=)
c.1272T>G (p.Leu424=)
11g.113399212T>ACA382644579ANKK1c.1243T>A (p.Leu415Met)
c.1276T>A (p.Leu426Met)
c.1246T>A (p.Leu416Met)
c.1054T>A (p.Leu352Met)
c.1273T>A (p.Leu425Met)
11g.113399212T>CCA477042790ANKK1c.1243T>C (p.Leu415=)
c.1276T>C (p.Leu426=)
c.1246T>C (p.Leu416=)
c.1054T>C (p.Leu352=)
c.1273T>C (p.Leu425=)
11g.113399212T>GCA382644580ANKK1c.1243T>G (p.Leu415Val)
c.1276T>G (p.Leu426Val)
c.1246T>G (p.Leu416Val)
c.1054T>G (p.Leu352Val)
c.1273T>G (p.Leu425Val)
11g.113399213T>ACA382644581ANKK1c.1244T>A (p.Leu415Ter)
c.1277T>A (p.Leu426Ter)
c.1247T>A (p.Leu416Ter)
c.1055T>A (p.Leu352Ter)
c.1274T>A (p.Leu425Ter)
11g.113399213T>CCA382644582ANKK1c.1244T>C (p.Leu415Ser)
c.1277T>C (p.Leu426Ser)
c.1247T>C (p.Leu416Ser)
c.1055T>C (p.Leu352Ser)
c.1274T>C (p.Leu425Ser)
11g.113399213T>GCA382644583ANKK1c.1244T>G (p.Leu415Trp)
c.1277T>G (p.Leu426Trp)
c.1247T>G (p.Leu416Trp)
c.1055T>G (p.Leu352Trp)
c.1274T>G (p.Leu425Trp)
11g.113399214G>ACA477042793ANKK1c.1245G>A (p.Leu415=)
c.1278G>A (p.Leu426=)
c.1248G>A (p.Leu416=)
c.1056G>A (p.Leu352=)
c.1275G>A (p.Leu425=)

Number of alleles fetched