Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.113399193C>ACA477042745ANKK1c.1224C>A (p.Pro408=)
c.1257C>A (p.Pro419=)
c.1227C>A (p.Pro409=)
c.1035C>A (p.Pro345=)
c.1254C>A (p.Pro418=)
gnomAD v4
11g.113399193C=CA2001151808ANKK1c.1224C= (p.Pro408=)
c.1257C= (p.Pro419=)
c.1227C= (p.Pro409=)
c.1035C= (p.Pro345=)
c.1254C= (p.Pro418=)
11g.113399193C>GCA228615026ANKK1c.1224C>G (p.Pro408=)
c.1257C>G (p.Pro419=)
c.1227C>G (p.Pro409=)
c.1035C>G (p.Pro345=)
c.1254C>G (p.Pro418=)
dbSNP gnomAD v3 gnomAD v4
11g.113399193C>TCA6280901ANKK1c.1224C>T (p.Pro408=)
c.1257C>T (p.Pro419=)
c.1227C>T (p.Pro409=)
c.1035C>T (p.Pro345=)
c.1254C>T (p.Pro418=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399194G>ACA6280902ANKK1c.1225G>A (p.Asp409Asn)
c.1258G>A (p.Asp420Asn)
c.1228G>A (p.Asp410Asn)
c.1036G>A (p.Asp346Asn)
c.1255G>A (p.Asp419Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399194G>CCA382644542ANKK1c.1225G>C (p.Asp409His)
c.1258G>C (p.Asp420His)
c.1228G>C (p.Asp410His)
c.1036G>C (p.Asp346His)
c.1255G>C (p.Asp419His)
gnomAD v4
11g.113399194G=CA2001151811ANKK1c.1225G= (p.Asp409=)
c.1258G= (p.Asp420=)
c.1228G= (p.Asp410=)
c.1036G= (p.Asp346=)
c.1255G= (p.Asp419=)
11g.113399194G>TCA382644543ANKK1c.1225G>T (p.Asp409Tyr)
c.1258G>T (p.Asp420Tyr)
c.1228G>T (p.Asp410Tyr)
c.1036G>T (p.Asp346Tyr)
c.1255G>T (p.Asp419Tyr)
11g.113399195A=CA2001151813ANKK1c.1226A= (p.Asp409=)
c.1259A= (p.Asp420=)
c.1229A= (p.Asp410=)
c.1037A= (p.Asp346=)
c.1256A= (p.Asp419=)
11g.113399195A>CCA382644544ANKK1c.1226A>C (p.Asp409Ala)
c.1259A>C (p.Asp420Ala)
c.1229A>C (p.Asp410Ala)
c.1037A>C (p.Asp346Ala)
c.1256A>C (p.Asp419Ala)
gnomAD v4
11g.113399195A>GCA382644545ANKK1c.1226A>G (p.Asp409Gly)
c.1259A>G (p.Asp420Gly)
c.1229A>G (p.Asp410Gly)
c.1037A>G (p.Asp346Gly)
c.1256A>G (p.Asp419Gly)
dbSNP gnomAD v2 gnomAD v4
11g.113399195A>TCA382644546ANKK1c.1226A>T (p.Asp409Val)
c.1259A>T (p.Asp420Val)
c.1229A>T (p.Asp410Val)
c.1037A>T (p.Asp346Val)
c.1256A>T (p.Asp419Val)
11g.113399196C>ACA382644547ANKK1c.1227C>A (p.Asp409Glu)
c.1260C>A (p.Asp420Glu)
c.1230C>A (p.Asp410Glu)
c.1038C>A (p.Asp346Glu)
c.1257C>A (p.Asp419Glu)
gnomAD v4
11g.113399196C>GCA382644548ANKK1c.1227C>G (p.Asp409Glu)
c.1260C>G (p.Asp420Glu)
c.1230C>G (p.Asp410Glu)
c.1038C>G (p.Asp346Glu)
c.1257C>G (p.Asp419Glu)
11g.113399196C>TCA477042754ANKK1c.1227C>T (p.Asp409=)
c.1260C>T (p.Asp420=)
c.1230C>T (p.Asp410=)
c.1038C>T (p.Asp346=)
c.1257C>T (p.Asp419=)
11g.113399197C>ACA382644550ANKK1c.1228C>A (p.Leu410Ile)
c.1261C>A (p.Leu421Ile)
c.1231C>A (p.Leu411Ile)
c.1039C>A (p.Leu347Ile)
c.1258C>A (p.Leu420Ile)
gnomAD v4
11g.113399197C=CA2001151821ANKK1c.1228C= (p.Leu410=)
c.1261C= (p.Leu421=)
c.1231C= (p.Leu411=)
c.1039C= (p.Leu347=)
c.1258C= (p.Leu420=)
11g.113399197C>GCA382644551ANKK1c.1228C>G (p.Leu410Val)
c.1261C>G (p.Leu421Val)
c.1231C>G (p.Leu411Val)
c.1039C>G (p.Leu347Val)
c.1258C>G (p.Leu420Val)
11g.113399197C>TCA6280903ANKK1c.1228C>T (p.Leu410Phe)
c.1261C>T (p.Leu421Phe)
c.1231C>T (p.Leu411Phe)
c.1039C>T (p.Leu347Phe)
c.1258C>T (p.Leu420Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399198T>ACA6280904ANKK1c.1229T>A (p.Leu410His)
c.1262T>A (p.Leu421His)
c.1232T>A (p.Leu411His)
c.1040T>A (p.Leu347His)
c.1259T>A (p.Leu420His)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399198T>CCA382644552ANKK1c.1229T>C (p.Leu410Pro)
c.1262T>C (p.Leu421Pro)
c.1232T>C (p.Leu411Pro)
c.1040T>C (p.Leu347Pro)
c.1259T>C (p.Leu420Pro)
11g.113399198T>GCA382644553ANKK1c.1229T>G (p.Leu410Arg)
c.1262T>G (p.Leu421Arg)
c.1232T>G (p.Leu411Arg)
c.1040T>G (p.Leu347Arg)
c.1259T>G (p.Leu420Arg)
11g.113399198T=CA2001151824ANKK1c.1229T= (p.Leu410=)
c.1262T= (p.Leu421=)
c.1232T= (p.Leu411=)
c.1040T= (p.Leu347=)
c.1259T= (p.Leu420=)
11g.113399199C>ACA477042761ANKK1c.1230C>A (p.Leu410=)
c.1263C>A (p.Leu421=)
c.1233C>A (p.Leu411=)
c.1041C>A (p.Leu347=)
c.1260C>A (p.Leu420=)
gnomAD v4
11g.113399199C>GCA477042762ANKK1c.1230C>G (p.Leu410=)
c.1263C>G (p.Leu421=)
c.1233C>G (p.Leu411=)
c.1041C>G (p.Leu347=)
c.1260C>G (p.Leu420=)
11g.113399199C>TCA477042764ANKK1c.1230C>T (p.Leu410=)
c.1263C>T (p.Leu421=)
c.1233C>T (p.Leu411=)
c.1041C>T (p.Leu347=)
c.1260C>T (p.Leu420=)
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)

Number of alleles fetched