Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.113399107T>ACA382644362ANKK1c.1138T>A (p.Leu380Met)
c.1171T>A (p.Leu391Met)
c.1141T>A (p.Leu381Met)
c.949T>A (p.Leu317Met)
c.1168T>A (p.Leu390Met)
11g.113399107T>CCA477042354ANKK1c.1138T>C (p.Leu380=)
c.1171T>C (p.Leu391=)
c.1141T>C (p.Leu381=)
c.949T>C (p.Leu317=)
c.1168T>C (p.Leu390=)
 gnomAD v4
11g.113399107T>GCA382644363ANKK1c.1138T>G (p.Leu380Val)
c.1171T>G (p.Leu391Val)
c.1141T>G (p.Leu381Val)
c.949T>G (p.Leu317Val)
c.1168T>G (p.Leu390Val)
11g.113399108T>ACA382644364ANKK1c.1139T>A (p.Leu380Ter)
c.1172T>A (p.Leu391Ter)
c.1142T>A (p.Leu381Ter)
c.950T>A (p.Leu317Ter)
c.1169T>A (p.Leu390Ter)
11g.113399108T>CCA382644365ANKK1c.1139T>C (p.Leu380Ser)
c.1172T>C (p.Leu391Ser)
c.1142T>C (p.Leu381Ser)
c.950T>C (p.Leu317Ser)
c.1169T>C (p.Leu390Ser)
11g.113399108T>GCA382644366ANKK1c.1139T>G (p.Leu380Trp)
c.1172T>G (p.Leu391Trp)
c.1142T>G (p.Leu381Trp)
c.950T>G (p.Leu317Trp)
c.1169T>G (p.Leu390Trp)
11g.113399109G>ACA477042355ANKK1c.1140G>A (p.Leu380=)
c.1173G>A (p.Leu391=)
c.1143G>A (p.Leu381=)
c.951G>A (p.Leu317=)
c.1170G>A (p.Leu390=)
11g.113399109G>CCA6280878ANKK1c.1140G>C (p.Leu380Phe)
c.1173G>C (p.Leu391Phe)
c.1143G>C (p.Leu381Phe)
c.951G>C (p.Leu317Phe)
c.1170G>C (p.Leu390Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399109G=CA2001151612ANKK1c.1140G= (p.Leu380=)
c.1173G= (p.Leu391=)
c.1143G= (p.Leu381=)
c.951G= (p.Leu317=)
c.1170G= (p.Leu390=)
11g.113399109G>TCA382644367ANKK1c.1140G>T (p.Leu380Phe)
c.1173G>T (p.Leu391Phe)
c.1143G>T (p.Leu381Phe)
c.951G>T (p.Leu317Phe)
c.1170G>T (p.Leu390Phe)
 dbSNP gnomAD v3 gnomAD v4
11g.113399110C>ACA382644368ANKK1c.1141C>A (p.Leu381Met)
c.1174C>A (p.Leu392Met)
c.1144C>A (p.Leu382Met)
c.952C>A (p.Leu318Met)
c.1171C>A (p.Leu391Met)
 gnomAD v4
11g.113399110C>GCA382644369ANKK1c.1141C>G (p.Leu381Val)
c.1174C>G (p.Leu392Val)
c.1144C>G (p.Leu382Val)
c.952C>G (p.Leu318Val)
c.1171C>G (p.Leu391Val)
11g.113399110C>TCA477042357ANKK1c.1141C>T (p.Leu381=)
c.1174C>T (p.Leu392=)
c.1144C>T (p.Leu382=)
c.952C>T (p.Leu318=)
c.1171C>T (p.Leu391=)
 gnomAD v4
11g.113399111T>ACA382644370ANKK1c.1142T>A (p.Leu381Gln)
c.1175T>A (p.Leu392Gln)
c.1145T>A (p.Leu382Gln)
c.953T>A (p.Leu318Gln)
c.1172T>A (p.Leu391Gln)
11g.113399111T>CCA382644371ANKK1c.1142T>C (p.Leu381Pro)
c.1175T>C (p.Leu392Pro)
c.1145T>C (p.Leu382Pro)
c.953T>C (p.Leu318Pro)
c.1172T>C (p.Leu391Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.113399111T>GCA382644372ANKK1c.1142T>G (p.Leu381Arg)
c.1175T>G (p.Leu392Arg)
c.1145T>G (p.Leu382Arg)
c.953T>G (p.Leu318Arg)
c.1172T>G (p.Leu391Arg)
11g.113399111T=CA2001151616ANKK1c.1142T= (p.Leu381=)
c.1175T= (p.Leu392=)
c.1145T= (p.Leu382=)
c.953T= (p.Leu318=)
c.1172T= (p.Leu391=)
11g.113399112G>ACA477042361ANKK1c.1143G>A (p.Leu381=)
c.1176G>A (p.Leu392=)
c.1146G>A (p.Leu382=)
c.954G>A (p.Leu318=)
c.1173G>A (p.Leu391=)
 dbSNP gnomAD v3 gnomAD v4
11g.113399112G>CCA477042362ANKK1c.1143G>C (p.Leu381=)
c.1176G>C (p.Leu392=)
c.1146G>C (p.Leu382=)
c.954G>C (p.Leu318=)
c.1173G>C (p.Leu391=)
 gnomAD v4
11g.113399112G>TCA477042364ANKK1c.1143G>T (p.Leu381=)
c.1176G>T (p.Leu392=)
c.1146G>T (p.Leu382=)
c.954G>T (p.Leu318=)
c.1173G>T (p.Leu391=)
 gnomAD v4
11g.113399113C>ACA382644373ANKK1c.1144C>A (p.Leu382Met)
c.1177C>A (p.Leu393Met)
c.1147C>A (p.Leu383Met)
c.955C>A (p.Leu319Met)
c.1174C>A (p.Leu392Met)
11g.113399113C>GCA382644374ANKK1c.1144C>G (p.Leu382Val)
c.1177C>G (p.Leu393Val)
c.1147C>G (p.Leu383Val)
c.955C>G (p.Leu319Val)
c.1174C>G (p.Leu392Val)
11g.113399113C>TCA477042368ANKK1c.1144C>T (p.Leu382=)
c.1177C>T (p.Leu393=)
c.1147C>T (p.Leu383=)
c.955C>T (p.Leu319=)
c.1174C>T (p.Leu392=)
 gnomAD v4
11g.113399114T>ACA382644375ANKK1c.1145T>A (p.Leu382Gln)
c.1178T>A (p.Leu393Gln)
c.1148T>A (p.Leu383Gln)
c.956T>A (p.Leu319Gln)
c.1175T>A (p.Leu392Gln)
11g.113399114T>CCA382644376ANKK1c.1145T>C (p.Leu382Pro)
c.1178T>C (p.Leu393Pro)
c.1148T>C (p.Leu383Pro)
c.956T>C (p.Leu319Pro)
c.1175T>C (p.Leu392Pro)
11g.113399114T>GCA382644377ANKK1c.1145T>G (p.Leu382Arg)
c.1178T>G (p.Leu393Arg)
c.1148T>G (p.Leu383Arg)
c.956T>G (p.Leu319Arg)
c.1175T>G (p.Leu392Arg)
11g.113399115G>ACA477042370ANKK1c.1146G>A (p.Leu382=)
c.1179G>A (p.Leu393=)
c.1149G>A (p.Leu383=)
c.957G>A (p.Leu319=)
c.1176G>A (p.Leu392=)
 gnomAD v4
11g.113399115G>CCA477042371ANKK1c.1146G>C (p.Leu382=)
c.1179G>C (p.Leu393=)
c.1149G>C (p.Leu383=)
c.957G>C (p.Leu319=)
c.1176G>C (p.Leu392=)
11g.113399115G>TCA477042372ANKK1c.1146G>T (p.Leu382=)
c.1179G>T (p.Leu393=)
c.1149G>T (p.Leu383=)
c.957G>T (p.Leu319=)
c.1176G>T (p.Leu392=)
11g.113399116G>ACA382644378ANKK1c.1147G>A (p.Ala383Thr)
c.1180G>A (p.Ala394Thr)
c.1150G>A (p.Ala384Thr)
c.958G>A (p.Ala320Thr)
c.1177G>A (p.Ala393Thr)
 gnomAD v4
11g.113399116G>CCA382644379ANKK1c.1147G>C (p.Ala383Pro)
c.1180G>C (p.Ala394Pro)
c.1150G>C (p.Ala384Pro)
c.958G>C (p.Ala320Pro)
c.1177G>C (p.Ala393Pro)
11g.113399116G>TCA382644380ANKK1c.1147G>T (p.Ala383Ser)
c.1180G>T (p.Ala394Ser)
c.1150G>T (p.Ala384Ser)
c.958G>T (p.Ala320Ser)
c.1177G>T (p.Ala393Ser)
 gnomAD v4
11g.113399117C>ACA382644383ANKK1c.1148C>A (p.Ala383Asp)
c.1181C>A (p.Ala394Asp)
c.1151C>A (p.Ala384Asp)
c.959C>A (p.Ala320Asp)
c.1178C>A (p.Ala393Asp)
 gnomAD v4
11g.113399117C=CA2001151620ANKK1c.1148C= (p.Ala383=)
c.1181C= (p.Ala394=)
c.1151C= (p.Ala384=)
c.959C= (p.Ala320=)
c.1178C= (p.Ala393=)
11g.113399117C>GCA382644381ANKK1c.1148C>G (p.Ala383Gly)
c.1181C>G (p.Ala394Gly)
c.1151C>G (p.Ala384Gly)
c.959C>G (p.Ala320Gly)
c.1178C>G (p.Ala393Gly)
11g.113399117C>TCA382644382ANKK1c.1148C>T (p.Ala383Val)
c.1181C>T (p.Ala394Val)
c.1151C>T (p.Ala384Val)
c.959C>T (p.Ala320Val)
c.1178C>T (p.Ala393Val)
 dbSNP gnomAD v2 gnomAD v4
11g.113399118C>ACA477042380ANKK1c.1149C>A (p.Ala383=)
c.1182C>A (p.Ala394=)
c.1152C>A (p.Ala384=)
c.960C>A (p.Ala320=)
c.1179C>A (p.Ala393=)
 gnomAD v4
11g.113399118C=CA2001151623ANKK1c.1149C= (p.Ala383=)
c.1182C= (p.Ala394=)
c.1152C= (p.Ala384=)
c.960C= (p.Ala320=)
c.1179C= (p.Ala393=)
11g.113399118C>GCA477042379ANKK1c.1149C>G (p.Ala383=)
c.1182C>G (p.Ala394=)
c.1152C>G (p.Ala384=)
c.960C>G (p.Ala320=)
c.1179C>G (p.Ala393=)
11g.113399118C>TCA6280879ANKK1c.1149C>T (p.Ala383=)
c.1182C>T (p.Ala394=)
c.1152C>T (p.Ala384=)
c.960C>T (p.Ala320=)
c.1179C>T (p.Ala393=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399119C>ACA382644384ANKK1c.1150C>A (p.His384Asn)
c.1183C>A (p.His395Asn)
c.1153C>A (p.His385Asn)
c.961C>A (p.His321Asn)
c.1180C>A (p.His394Asn)
 gnomAD v4
11g.113399119C>GCA382644385ANKK1c.1150C>G (p.His384Asp)
c.1183C>G (p.His395Asp)
c.1153C>G (p.His385Asp)
c.961C>G (p.His321Asp)
c.1180C>G (p.His394Asp)
11g.113399119C>TCA382644386ANKK1c.1150C>T (p.His384Tyr)
c.1183C>T (p.His395Tyr)
c.1153C>T (p.His385Tyr)
c.961C>T (p.His321Tyr)
c.1180C>T (p.His394Tyr)
11g.113399120A>CCA382644387ANKK1c.1151A>C (p.His384Pro)
c.1184A>C (p.His395Pro)
c.1154A>C (p.His385Pro)
c.962A>C (p.His321Pro)
c.1181A>C (p.His394Pro)
11g.113399120A>GCA382644388ANKK1c.1151A>G (p.His384Arg)
c.1184A>G (p.His395Arg)
c.1154A>G (p.His385Arg)
c.962A>G (p.His321Arg)
c.1181A>G (p.His394Arg)
11g.113399120A>TCA382644389ANKK1c.1151A>T (p.His384Leu)
c.1184A>T (p.His395Leu)
c.1154A>T (p.His385Leu)
c.962A>T (p.His321Leu)
c.1181A>T (p.His394Leu)
11g.113399121C>ACA382644390ANKK1c.1152C>A (p.His384Gln)
c.1185C>A (p.His395Gln)
c.1155C>A (p.His385Gln)
c.963C>A (p.His321Gln)
c.1182C>A (p.His394Gln)
 gnomAD v4
11g.113399121C=CA2001151626ANKK1c.1152C= (p.His384=)
c.1185C= (p.His395=)
c.1155C= (p.His385=)
c.963C= (p.His321=)
c.1182C= (p.His394=)
11g.113399121C>GCA382644391ANKK1c.1152C>G (p.His384Gln)
c.1185C>G (p.His395Gln)
c.1155C>G (p.His385Gln)
c.963C>G (p.His321Gln)
c.1182C>G (p.His394Gln)
11g.113399121C>TCA6280880ANKK1c.1152C>T (p.His384=)
c.1185C>T (p.His395=)
c.1155C>T (p.His385=)
c.963C>T (p.His321=)
c.1182C>T (p.His394=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399122G>ACA6280881ANKK1c.1153G>A (p.Glu385Lys)
c.1186G>A (p.Glu396Lys)
c.1156G>A (p.Glu386Lys)
c.964G>A (p.Glu322Lys)
c.1183G>A (p.Glu395Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399122G>CCA382644392ANKK1c.1153G>C (p.Glu385Gln)
c.1186G>C (p.Glu396Gln)
c.1156G>C (p.Glu386Gln)
c.964G>C (p.Glu322Gln)
c.1183G>C (p.Glu395Gln)
 gnomAD v4
11g.113399122G=CA2001151629ANKK1c.1153G= (p.Glu385=)
c.1186G= (p.Glu396=)
c.1156G= (p.Glu386=)
c.964G= (p.Glu322=)
c.1183G= (p.Glu395=)
11g.113399122G>TCA382644393ANKK1c.1153G>T (p.Glu385Ter)
c.1186G>T (p.Glu396Ter)
c.1156G>T (p.Glu386Ter)
c.964G>T (p.Glu322Ter)
c.1183G>T (p.Glu395Ter)
 gnomAD v4
11g.113399123A=CA2001151634ANKK1c.1154A= (p.Glu385=)
c.1187A= (p.Glu396=)
c.1157A= (p.Glu386=)
c.965A= (p.Glu322=)
c.1184A= (p.Glu395=)
11g.113399123A>CCA382644396ANKK1c.1154A>C (p.Glu385Ala)
c.1187A>C (p.Glu396Ala)
c.1157A>C (p.Glu386Ala)
c.965A>C (p.Glu322Ala)
c.1184A>C (p.Glu395Ala)
11g.113399123A>GCA382644395ANKK1c.1154A>G (p.Glu385Gly)
c.1187A>G (p.Glu396Gly)
c.1157A>G (p.Glu386Gly)
c.965A>G (p.Glu322Gly)
c.1184A>G (p.Glu395Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.113399123A>TCA382644394ANKK1c.1154A>T (p.Glu385Val)
c.1187A>T (p.Glu396Val)
c.1157A>T (p.Glu386Val)
c.965A>T (p.Glu322Val)
c.1184A>T (p.Glu395Val)
11g.113399124G>ACA477042398ANKK1c.1155G>A (p.Glu385=)
c.1188G>A (p.Glu396=)
c.1158G>A (p.Glu386=)
c.966G>A (p.Glu322=)
c.1185G>A (p.Glu395=)
11g.113399124G>CCA382644398ANKK1c.1155G>C (p.Glu385Asp)
c.1188G>C (p.Glu396Asp)
c.1158G>C (p.Glu386Asp)
c.966G>C (p.Glu322Asp)
c.1185G>C (p.Glu395Asp)
11g.113399124G>TCA382644397ANKK1c.1155G>T (p.Glu385Asp)
c.1188G>T (p.Glu396Asp)
c.1158G>T (p.Glu386Asp)
c.966G>T (p.Glu322Asp)
c.1185G>T (p.Glu395Asp)
 gnomAD v4
11g.113399125G>ACA382644400ANKK1c.1156G>A (p.Val386Ile)
c.1189G>A (p.Val397Ile)
c.1159G>A (p.Val387Ile)
c.967G>A (p.Val323Ile)
c.1186G>A (p.Val396Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.113399125G>CCA382644399ANKK1c.1156G>C (p.Val386Leu)
c.1189G>C (p.Val397Leu)
c.1159G>C (p.Val387Leu)
c.967G>C (p.Val323Leu)
c.1186G>C (p.Val396Leu)
11g.113399125G=CA2001151640ANKK1c.1156G= (p.Val386=)
c.1189G= (p.Val397=)
c.1159G= (p.Val387=)
c.967G= (p.Val323=)
c.1186G= (p.Val396=)
11g.113399125G>TCA382644401ANKK1c.1156G>T (p.Val386Leu)
c.1189G>T (p.Val397Leu)
c.1159G>T (p.Val387Leu)
c.967G>T (p.Val323Leu)
c.1186G>T (p.Val396Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.113399126T>ACA382644402ANKK1c.1157T>A (p.Val386Glu)
c.1190T>A (p.Val397Glu)
c.1160T>A (p.Val387Glu)
c.968T>A (p.Val323Glu)
c.1187T>A (p.Val396Glu)
11g.113399126T>CCA382644403ANKK1c.1157T>C (p.Val386Ala)
c.1190T>C (p.Val397Ala)
c.1160T>C (p.Val387Ala)
c.968T>C (p.Val323Ala)
c.1187T>C (p.Val396Ala)
11g.113399126T>GCA382644404ANKK1c.1157T>G (p.Val386Gly)
c.1190T>G (p.Val397Gly)
c.1160T>G (p.Val387Gly)
c.968T>G (p.Val323Gly)
c.1187T>G (p.Val396Gly)
11g.113399127A=CA2001151644ANKK1c.1158A= (p.Val386=)
c.1191A= (p.Val397=)
c.1161A= (p.Val387=)
c.969A= (p.Val323=)
c.1188A= (p.Val396=)
11g.113399127A>CCA6280882ANKK1c.1158A>C (p.Val386=)
c.1191A>C (p.Val397=)
c.1161A>C (p.Val387=)
c.969A>C (p.Val323=)
c.1188A>C (p.Val396=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399127A>GCA477042414ANKK1c.1158A>G (p.Val386=)
c.1191A>G (p.Val397=)
c.1161A>G (p.Val387=)
c.969A>G (p.Val323=)
c.1188A>G (p.Val396=)
11g.113399127A>TCA477042417ANKK1c.1158A>T (p.Val386=)
c.1191A>T (p.Val397=)
c.1161A>T (p.Val387=)
c.969A>T (p.Val323=)
c.1188A>T (p.Val396=)
11g.113399128G>ACA382644405ANKK1c.1159G>A (p.Asp387Asn)
c.1192G>A (p.Asp398Asn)
c.1162G>A (p.Asp388Asn)
c.970G>A (p.Asp324Asn)
c.1189G>A (p.Asp397Asn)
 dbSNP gnomAD v2
11g.113399128G>CCA382644406ANKK1c.1159G>C (p.Asp387His)
c.1192G>C (p.Asp398His)
c.1162G>C (p.Asp388His)
c.970G>C (p.Asp324His)
c.1189G>C (p.Asp397His)
11g.113399128G=CA2001151647ANKK1c.1159G= (p.Asp387=)
c.1192G= (p.Asp398=)
c.1162G= (p.Asp388=)
c.970G= (p.Asp324=)
c.1189G= (p.Asp397=)
11g.113399128G>TCA6280883ANKK1c.1159G>T (p.Asp387Tyr)
c.1192G>T (p.Asp398Tyr)
c.1162G>T (p.Asp388Tyr)
c.970G>T (p.Asp324Tyr)
c.1189G>T (p.Asp397Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.113399129A>CCA382644407ANKK1c.1160A>C (p.Asp387Ala)
c.1193A>C (p.Asp398Ala)
c.1163A>C (p.Asp388Ala)
c.971A>C (p.Asp324Ala)
c.1190A>C (p.Asp397Ala)
11g.113399129A>GCA382644408ANKK1c.1160A>G (p.Asp387Gly)
c.1193A>G (p.Asp398Gly)
c.1163A>G (p.Asp388Gly)
c.971A>G (p.Asp324Gly)
c.1190A>G (p.Asp397Gly)
 gnomAD v4
11g.113399129A>TCA382644409ANKK1c.1160A>T (p.Asp387Val)
c.1193A>T (p.Asp398Val)
c.1163A>T (p.Asp388Val)
c.971A>T (p.Asp324Val)
c.1190A>T (p.Asp397Val)
11g.113399130C>ACA382644410ANKK1c.1161C>A (p.Asp387Glu)
c.1194C>A (p.Asp398Glu)
c.1164C>A (p.Asp388Glu)
c.972C>A (p.Asp324Glu)
c.1191C>A (p.Asp397Glu)
11g.113399130C=CA2001151655ANKK1c.1161C= (p.Asp387=)
c.1194C= (p.Asp398=)
c.1164C= (p.Asp388=)
c.972C= (p.Asp324=)
c.1191C= (p.Asp397=)
11g.113399130C>GCA382644411ANKK1c.1161C>G (p.Asp387Glu)
c.1194C>G (p.Asp398Glu)
c.1164C>G (p.Asp388Glu)
c.972C>G (p.Asp324Glu)
c.1191C>G (p.Asp397Glu)
11g.113399130C>TCA6280884ANKK1c.1161C>T (p.Asp387=)
c.1194C>T (p.Asp398=)
c.1164C>T (p.Asp388=)
c.972C>T (p.Asp324=)
c.1191C>T (p.Asp397=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399131G>ACA6280885ANKK1c.1162G>A (p.Val388Met)
c.1195G>A (p.Val399Met)
c.1165G>A (p.Val389Met)
c.973G>A (p.Val325Met)
c.1192G>A (p.Val398Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399131G>CCA382644412ANKK1c.1162G>C (p.Val388Leu)
c.1195G>C (p.Val399Leu)
c.1165G>C (p.Val389Leu)
c.973G>C (p.Val325Leu)
c.1192G>C (p.Val398Leu)
11g.113399131G=CA2001151665ANKK1c.1162G= (p.Val388=)
c.1195G= (p.Val399=)
c.1165G= (p.Val389=)
c.973G= (p.Val325=)
c.1192G= (p.Val398=)
11g.113399131G>TCA382644413ANKK1c.1162G>T (p.Val388Leu)
c.1195G>T (p.Val399Leu)
c.1165G>T (p.Val389Leu)
c.973G>T (p.Val325Leu)
c.1192G>T (p.Val398Leu)
 gnomAD v4
11g.113399132_113399134delCA2616032662ANKK1c.1163_1165del (p.Val388del)
c.1196_1198del (p.Val399del)
c.1166_1168del (p.Val389del)
c.974_976del (p.Val325del)
c.1193_1195del (p.Val398del)
 gnomAD v4
11g.113399132T>ACA382644414ANKK1c.1163T>A (p.Val388Glu)
c.1196T>A (p.Val399Glu)
c.1166T>A (p.Val389Glu)
c.974T>A (p.Val325Glu)
c.1193T>A (p.Val398Glu)
11g.113399132T>CCA382644415ANKK1c.1163T>C (p.Val388Ala)
c.1196T>C (p.Val399Ala)
c.1166T>C (p.Val389Ala)
c.974T>C (p.Val325Ala)
c.1193T>C (p.Val398Ala)
11g.113399132T>GCA382644416ANKK1c.1163T>G (p.Val388Gly)
c.1196T>G (p.Val399Gly)
c.1166T>G (p.Val389Gly)
c.974T>G (p.Val325Gly)
c.1193T>G (p.Val398Gly)
11g.113399133G>ACA477042434ANKK1c.1164G>A (p.Val388=)
c.1197G>A (p.Val399=)
c.1167G>A (p.Val389=)
c.975G>A (p.Val325=)
c.1194G>A (p.Val398=)
 dbSNP gnomAD v2 gnomAD v4
11g.113399133G>CCA477042436ANKK1c.1164G>C (p.Val388=)
c.1197G>C (p.Val399=)
c.1167G>C (p.Val389=)
c.975G>C (p.Val325=)
c.1194G>C (p.Val398=)
11g.113399133G=CA2001151667ANKK1c.1164G= (p.Val388=)
c.1197G= (p.Val399=)
c.1167G= (p.Val389=)
c.975G= (p.Val325=)
c.1194G= (p.Val398=)
11g.113399133G>TCA228614845ANKK1c.1164G>T (p.Val388=)
c.1197G>T (p.Val399=)
c.1167G>T (p.Val389=)
c.975G>T (p.Val325=)
c.1194G>T (p.Val398=)
 dbSNP gnomAD v4
11g.113399134G>ACA382644417ANKK1c.1165G>A (p.Asp389Asn)
c.1198G>A (p.Asp400Asn)
c.1168G>A (p.Asp390Asn)
c.976G>A (p.Asp326Asn)
c.1195G>A (p.Asp399Asn)
11g.113399134G>CCA382644418ANKK1c.1165G>C (p.Asp389His)
c.1198G>C (p.Asp400His)
c.1168G>C (p.Asp390His)
c.976G>C (p.Asp326His)
c.1195G>C (p.Asp399His)
11g.113399134G>TCA382644419ANKK1c.1165G>T (p.Asp389Tyr)
c.1198G>T (p.Asp400Tyr)
c.1168G>T (p.Asp390Tyr)
c.976G>T (p.Asp326Tyr)
c.1195G>T (p.Asp399Tyr)
11g.113399135A>CCA382644420ANKK1c.1166A>C (p.Asp389Ala)
c.1199A>C (p.Asp400Ala)
c.1169A>C (p.Asp390Ala)
c.977A>C (p.Asp326Ala)
c.1196A>C (p.Asp399Ala)
11g.113399135A>GCA382644421ANKK1c.1166A>G (p.Asp389Gly)
c.1199A>G (p.Asp400Gly)
c.1169A>G (p.Asp390Gly)
c.977A>G (p.Asp326Gly)
c.1196A>G (p.Asp399Gly)
11g.113399135A>TCA382644422ANKK1c.1166A>T (p.Asp389Val)
c.1199A>T (p.Asp400Val)
c.1169A>T (p.Asp390Val)
c.977A>T (p.Asp326Val)
c.1196A>T (p.Asp399Val)
11g.113399136C>ACA382644423ANKK1c.1167C>A (p.Asp389Glu)
c.1200C>A (p.Asp400Glu)
c.1170C>A (p.Asp390Glu)
c.978C>A (p.Asp326Glu)
c.1197C>A (p.Asp399Glu)
11g.113399136C>GCA382644424ANKK1c.1167C>G (p.Asp389Glu)
c.1200C>G (p.Asp400Glu)
c.1170C>G (p.Asp390Glu)
c.978C>G (p.Asp326Glu)
c.1197C>G (p.Asp399Glu)
11g.113399136C>TCA477042453ANKK1c.1167C>T (p.Asp389=)
c.1200C>T (p.Asp400=)
c.1170C>T (p.Asp390=)
c.978C>T (p.Asp326=)
c.1197C>T (p.Asp399=)
11g.113399137T>ACA382644427ANKK1c.1168T>A (p.Cys390Ser)
c.1201T>A (p.Cys401Ser)
c.1171T>A (p.Cys391Ser)
c.979T>A (p.Cys327Ser)
c.1198T>A (p.Cys400Ser)
 gnomAD v4
11g.113399137T>CCA382644426ANKK1c.1168T>C (p.Cys390Arg)
c.1201T>C (p.Cys401Arg)
c.1171T>C (p.Cys391Arg)
c.979T>C (p.Cys327Arg)
c.1198T>C (p.Cys400Arg)
11g.113399137T>GCA382644425ANKK1c.1168T>G (p.Cys390Gly)
c.1201T>G (p.Cys401Gly)
c.1171T>G (p.Cys391Gly)
c.979T>G (p.Cys327Gly)
c.1198T>G (p.Cys400Gly)
 dbSNP gnomAD v2
11g.113399137T=CA2001151672ANKK1c.1168T= (p.Cys390=)
c.1201T= (p.Cys401=)
c.1171T= (p.Cys391=)
c.979T= (p.Cys327=)
c.1198T= (p.Cys400=)
11g.113399138G>ACA382644428ANKK1c.1169G>A (p.Cys390Tyr)
c.1202G>A (p.Cys401Tyr)
c.1172G>A (p.Cys391Tyr)
c.980G>A (p.Cys327Tyr)
c.1199G>A (p.Cys400Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.113399138G>CCA382644429ANKK1c.1169G>C (p.Cys390Ser)
c.1202G>C (p.Cys401Ser)
c.1172G>C (p.Cys391Ser)
c.980G>C (p.Cys327Ser)
c.1199G>C (p.Cys400Ser)
11g.113399138G=CA2001151675ANKK1c.1169G= (p.Cys390=)
c.1202G= (p.Cys401=)
c.1172G= (p.Cys391=)
c.980G= (p.Cys327=)
c.1199G= (p.Cys400=)
11g.113399138G>TCA382644430ANKK1c.1169G>T (p.Cys390Phe)
c.1202G>T (p.Cys401Phe)
c.1172G>T (p.Cys391Phe)
c.980G>T (p.Cys327Phe)
c.1199G>T (p.Cys400Phe)
 gnomAD v4
11g.113399139C>ACA382644431ANKK1c.1170C>A (p.Cys390Ter)
c.1203C>A (p.Cys401Ter)
c.1173C>A (p.Cys391Ter)
c.981C>A (p.Cys327Ter)
c.1200C>A (p.Cys400Ter)
 dbSNP gnomAD v2 gnomAD v4
11g.113399139C=CA2001151678ANKK1c.1170C= (p.Cys390=)
c.1203C= (p.Cys401=)
c.1173C= (p.Cys391=)
c.981C= (p.Cys327=)
c.1200C= (p.Cys400=)
11g.113399139C>GCA382644432ANKK1c.1170C>G (p.Cys390Trp)
c.1203C>G (p.Cys401Trp)
c.1173C>G (p.Cys391Trp)
c.981C>G (p.Cys327Trp)
c.1200C>G (p.Cys400Trp)
11g.113399139C>TCA228614846ANKK1c.1170C>T (p.Cys390=)
c.1203C>T (p.Cys401=)
c.1173C>T (p.Cys391=)
c.981C>T (p.Cys327=)
c.1200C>T (p.Cys400=)
 dbSNP gnomAD v4
11g.113399140delCA2793663331ANKK1c.1171del (p.Gln391ArgfsTer10)
c.1204del (p.Gln402ArgfsTer10)
c.1174del (p.Gln392ArgfsTer10)
c.982del (p.Gln328ArgfsTer10)
c.1201del (p.Gln401ArgfsTer10)
11g.113399140C>ACA382644433ANKK1c.1171C>A (p.Gln391Lys)
c.1204C>A (p.Gln402Lys)
c.1174C>A (p.Gln392Lys)
c.982C>A (p.Gln328Lys)
c.1201C>A (p.Gln401Lys)
 dbSNP gnomAD v4
11g.113399140C=CA2001151682ANKK1c.1171C= (p.Gln391=)
c.1204C= (p.Gln402=)
c.1174C= (p.Gln392=)
c.982C= (p.Gln328=)
c.1201C= (p.Gln401=)
11g.113399140C>GCA382644434ANKK1c.1171C>G (p.Gln391Glu)
c.1204C>G (p.Gln402Glu)
c.1174C>G (p.Gln392Glu)
c.982C>G (p.Gln328Glu)
c.1201C>G (p.Gln401Glu)
11g.113399140C>TCA382644435ANKK1c.1171C>T (p.Gln391Ter)
c.1204C>T (p.Gln402Ter)
c.1174C>T (p.Gln392Ter)
c.982C>T (p.Gln328Ter)
c.1201C>T (p.Gln401Ter)
11g.113399141A>CCA382644436ANKK1c.1172A>C (p.Gln391Pro)
c.1205A>C (p.Gln402Pro)
c.1175A>C (p.Gln392Pro)
c.983A>C (p.Gln328Pro)
c.1202A>C (p.Gln401Pro)
11g.113399141A>GCA382644437ANKK1c.1172A>G (p.Gln391Arg)
c.1205A>G (p.Gln402Arg)
c.1175A>G (p.Gln392Arg)
c.983A>G (p.Gln328Arg)
c.1202A>G (p.Gln401Arg)
 COSMIC
11g.113399141A>TCA382644438ANKK1c.1172A>T (p.Gln391Leu)
c.1205A>T (p.Gln402Leu)
c.1175A>T (p.Gln392Leu)
c.983A>T (p.Gln328Leu)
c.1202A>T (p.Gln401Leu)
11g.113399142G>ACA477042465ANKK1c.1173G>A (p.Gln391=)
c.1206G>A (p.Gln402=)
c.1176G>A (p.Gln392=)
c.984G>A (p.Gln328=)
c.1203G>A (p.Gln401=)
11g.113399142G>CCA382644439ANKK1c.1173G>C (p.Gln391His)
c.1206G>C (p.Gln402His)
c.1176G>C (p.Gln392His)
c.984G>C (p.Gln328His)
c.1203G>C (p.Gln401His)
 gnomAD v4
11g.113399142G>TCA382644440ANKK1c.1173G>T (p.Gln391His)
c.1206G>T (p.Gln402His)
c.1176G>T (p.Gln392His)
c.984G>T (p.Gln328His)
c.1203G>T (p.Gln401His)
11g.113399143A>CCA382644443ANKK1c.1174A>C (p.Thr392Pro)
c.1207A>C (p.Thr403Pro)
c.1177A>C (p.Thr393Pro)
c.985A>C (p.Thr329Pro)
c.1204A>C (p.Thr402Pro)
11g.113399143A>GCA382644441ANKK1c.1174A>G (p.Thr392Ala)
c.1207A>G (p.Thr403Ala)
c.1177A>G (p.Thr393Ala)
c.985A>G (p.Thr329Ala)
c.1204A>G (p.Thr402Ala)
11g.113399143A>TCA382644442ANKK1c.1174A>T (p.Thr392Ser)
c.1207A>T (p.Thr403Ser)
c.1177A>T (p.Thr393Ser)
c.985A>T (p.Thr329Ser)
c.1204A>T (p.Thr402Ser)
11g.113399144C>ACA382644444ANKK1c.1175C>A (p.Thr392Lys)
c.1208C>A (p.Thr403Lys)
c.1178C>A (p.Thr393Lys)
c.986C>A (p.Thr329Lys)
c.1205C>A (p.Thr402Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.113399144C=CA2001151686ANKK1c.1175C= (p.Thr392=)
c.1208C= (p.Thr403=)
c.1178C= (p.Thr393=)
c.986C= (p.Thr329=)
c.1205C= (p.Thr402=)
11g.113399144C>GCA382644445ANKK1c.1175C>G (p.Thr392Arg)
c.1208C>G (p.Thr403Arg)
c.1178C>G (p.Thr393Arg)
c.986C>G (p.Thr329Arg)
c.1205C>G (p.Thr402Arg)
11g.113399144C>TCA6280886ANKK1c.1175C>T (p.Thr392Met)
c.1208C>T (p.Thr403Met)
c.1178C>T (p.Thr393Met)
c.986C>T (p.Thr329Met)
c.1205C>T (p.Thr402Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399145_113399147delCA2550646406ANKK1c.1176_1178del (p.Ala393del)
c.1209_1211del (p.Ala404del)
c.1179_1181del (p.Ala394del)
c.987_989del (p.Ala330del)
c.1206_1208del (p.Ala403del)
 gnomAD v4
11g.113399145G>ACA6280887ANKK1c.1176G>A (p.Thr392=)
c.1209G>A (p.Thr403=)
c.1179G>A (p.Thr393=)
c.987G>A (p.Thr329=)
c.1206G>A (p.Thr402=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399145G>CCA477042469ANKK1c.1176G>C (p.Thr392=)
c.1209G>C (p.Thr403=)
c.1179G>C (p.Thr393=)
c.987G>C (p.Thr329=)
c.1206G>C (p.Thr402=)
11g.113399145G=CA2001151694ANKK1c.1176G= (p.Thr392=)
c.1209G= (p.Thr403=)
c.1179G= (p.Thr393=)
c.987G= (p.Thr329=)
c.1206G= (p.Thr402=)
11g.113399145G>TCA477042471ANKK1c.1176G>T (p.Thr392=)
c.1209G>T (p.Thr403=)
c.1179G>T (p.Thr393=)
c.987G>T (p.Thr329=)
c.1206G>T (p.Thr402=)
 gnomAD v4
11g.113399146G>ACA382644446ANKK1c.1177G>A (p.Ala393Thr)
c.1210G>A (p.Ala404Thr)
c.1180G>A (p.Ala394Thr)
c.988G>A (p.Ala330Thr)
c.1207G>A (p.Ala403Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.113399146G>CCA382644447ANKK1c.1177G>C (p.Ala393Pro)
c.1210G>C (p.Ala404Pro)
c.1180G>C (p.Ala394Pro)
c.988G>C (p.Ala330Pro)
c.1207G>C (p.Ala403Pro)
11g.113399146G=CA2001151698ANKK1c.1177G= (p.Ala393=)
c.1210G= (p.Ala404=)
c.1180G= (p.Ala394=)
c.988G= (p.Ala330=)
c.1207G= (p.Ala403=)
11g.113399146G>TCA382644448ANKK1c.1177G>T (p.Ala393Ser)
c.1210G>T (p.Ala404Ser)
c.1180G>T (p.Ala394Ser)
c.988G>T (p.Ala330Ser)
c.1207G>T (p.Ala403Ser)
 gnomAD v4
11g.113399147C>ACA382644449ANKK1c.1178C>A (p.Ala393Asp)
c.1211C>A (p.Ala404Asp)
c.1181C>A (p.Ala394Asp)
c.989C>A (p.Ala330Asp)
c.1208C>A (p.Ala403Asp)
11g.113399147C>GCA382644450ANKK1c.1178C>G (p.Ala393Gly)
c.1211C>G (p.Ala404Gly)
c.1181C>G (p.Ala394Gly)
c.989C>G (p.Ala330Gly)
c.1208C>G (p.Ala403Gly)
11g.113399147C>TCA382644451ANKK1c.1178C>T (p.Ala393Val)
c.1211C>T (p.Ala404Val)
c.1181C>T (p.Ala394Val)
c.989C>T (p.Ala330Val)
c.1208C>T (p.Ala403Val)
11g.113399148C>ACA477042637ANKK1c.1179C>A (p.Ala393=)
c.1212C>A (p.Ala404=)
c.1182C>A (p.Ala394=)
c.990C>A (p.Ala330=)
c.1209C>A (p.Ala403=)
11g.113399148C=CA2001151701ANKK1c.1179C= (p.Ala393=)
c.1212C= (p.Ala404=)
c.1182C= (p.Ala394=)
c.990C= (p.Ala330=)
c.1209C= (p.Ala403=)
11g.113399148C>GCA477042638ANKK1c.1179C>G (p.Ala393=)
c.1212C>G (p.Ala404=)
c.1182C>G (p.Ala394=)
c.990C>G (p.Ala330=)
c.1209C>G (p.Ala403=)
11g.113399148C>TCA6280888ANKK1c.1179C>T (p.Ala393=)
c.1212C>T (p.Ala404=)
c.1182C>T (p.Ala394=)
c.990C>T (p.Ala330=)
c.1209C>T (p.Ala403=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399149T>ACA382644454ANKK1c.1180T>A (p.Ser394Thr)
c.1213T>A (p.Ser405Thr)
c.1183T>A (p.Ser395Thr)
c.991T>A (p.Ser331Thr)
c.1210T>A (p.Ser404Thr)
11g.113399149T>CCA382644453ANKK1c.1180T>C (p.Ser394Pro)
c.1213T>C (p.Ser405Pro)
c.1183T>C (p.Ser395Pro)
c.991T>C (p.Ser331Pro)
c.1210T>C (p.Ser404Pro)
11g.113399149T>GCA382644452ANKK1c.1180T>G (p.Ser394Ala)
c.1213T>G (p.Ser405Ala)
c.1183T>G (p.Ser395Ala)
c.991T>G (p.Ser331Ala)
c.1210T>G (p.Ser404Ala)
11g.113399150C>ACA382644455ANKK1c.1181C>A (p.Ser394Tyr)
c.1214C>A (p.Ser405Tyr)
c.1184C>A (p.Ser395Tyr)
c.992C>A (p.Ser331Tyr)
c.1211C>A (p.Ser404Tyr)
11g.113399150C>GCA382644456ANKK1c.1181C>G (p.Ser394Cys)
c.1214C>G (p.Ser405Cys)
c.1184C>G (p.Ser395Cys)
c.992C>G (p.Ser331Cys)
c.1211C>G (p.Ser404Cys)
11g.113399150C>TCA382644457ANKK1c.1181C>T (p.Ser394Phe)
c.1214C>T (p.Ser405Phe)
c.1184C>T (p.Ser395Phe)
c.992C>T (p.Ser331Phe)
c.1211C>T (p.Ser404Phe)
11g.113399151T>ACA477042641ANKK1c.1182T>A (p.Ser394=)
c.1215T>A (p.Ser405=)
c.1185T>A (p.Ser395=)
c.993T>A (p.Ser331=)
c.1212T>A (p.Ser404=)
11g.113399151T>CCA477042643ANKK1c.1182T>C (p.Ser394=)
c.1215T>C (p.Ser405=)
c.1185T>C (p.Ser395=)
c.993T>C (p.Ser331=)
c.1212T>C (p.Ser404=)
11g.113399151T>GCA477042645ANKK1c.1182T>G (p.Ser394=)
c.1215T>G (p.Ser405=)
c.1185T>G (p.Ser395=)
c.993T>G (p.Ser331=)
c.1212T>G (p.Ser404=)
11g.113399152G>ACA382644458ANKK1c.1183G>A (p.Gly395Arg)
c.1216G>A (p.Gly406Arg)
c.1186G>A (p.Gly396Arg)
c.994G>A (p.Gly332Arg)
c.1213G>A (p.Gly405Arg)
 dbSNP gnomAD v2 COSMIC
11g.113399152G>CCA382644459ANKK1c.1183G>C (p.Gly395Arg)
c.1216G>C (p.Gly406Arg)
c.1186G>C (p.Gly396Arg)
c.994G>C (p.Gly332Arg)
c.1213G>C (p.Gly405Arg)
11g.113399152G=CA2001151703ANKK1c.1183G= (p.Gly395=)
c.1216G= (p.Gly406=)
c.1186G= (p.Gly396=)
c.994G= (p.Gly332=)
c.1213G= (p.Gly405=)
11g.113399152G>TCA382644460ANKK1c.1183G>T (p.Gly395Ter)
c.1216G>T (p.Gly406Ter)
c.1186G>T (p.Gly396Ter)
c.994G>T (p.Gly332Ter)
c.1213G>T (p.Gly405Ter)
11g.113399153G>ACA382644463ANKK1c.1184G>A (p.Gly395Glu)
c.1217G>A (p.Gly406Glu)
c.1187G>A (p.Gly396Glu)
c.995G>A (p.Gly332Glu)
c.1214G>A (p.Gly405Glu)
11g.113399153G>CCA382644462ANKK1c.1184G>C (p.Gly395Ala)
c.1217G>C (p.Gly406Ala)
c.1187G>C (p.Gly396Ala)
c.995G>C (p.Gly332Ala)
c.1214G>C (p.Gly405Ala)
11g.113399153G>TCA382644461ANKK1c.1184G>T (p.Gly395Val)
c.1217G>T (p.Gly406Val)
c.1187G>T (p.Gly396Val)
c.995G>T (p.Gly332Val)
c.1214G>T (p.Gly405Val)
 gnomAD v4
11g.113399154A>CCA477042649ANKK1c.1185A>C (p.Gly395=)
c.1218A>C (p.Gly406=)
c.1188A>C (p.Gly396=)
c.996A>C (p.Gly332=)
c.1215A>C (p.Gly405=)
11g.113399154A>GCA477042651ANKK1c.1185A>G (p.Gly395=)
c.1218A>G (p.Gly406=)
c.1188A>G (p.Gly396=)
c.996A>G (p.Gly332=)
c.1215A>G (p.Gly405=)
11g.113399154A>TCA477042653ANKK1c.1185A>T (p.Gly395=)
c.1218A>T (p.Gly406=)
c.1188A>T (p.Gly396=)
c.996A>T (p.Gly332=)
c.1215A>T (p.Gly405=)
11g.113399155T>ACA382644464ANKK1c.1186T>A (p.Tyr396Asn)
c.1219T>A (p.Tyr407Asn)
c.1189T>A (p.Tyr397Asn)
c.997T>A (p.Tyr333Asn)
c.1216T>A (p.Tyr406Asn)
 gnomAD v4
11g.113399155T>CCA382644465ANKK1c.1186T>C (p.Tyr396His)
c.1219T>C (p.Tyr407His)
c.1189T>C (p.Tyr397His)
c.997T>C (p.Tyr333His)
c.1216T>C (p.Tyr406His)
11g.113399155T>GCA382644466ANKK1c.1186T>G (p.Tyr396Asp)
c.1219T>G (p.Tyr407Asp)
c.1189T>G (p.Tyr397Asp)
c.997T>G (p.Tyr333Asp)
c.1216T>G (p.Tyr406Asp)
11g.113399156A>CCA382644467ANKK1c.1187A>C (p.Tyr396Ser)
c.1220A>C (p.Tyr407Ser)
c.1190A>C (p.Tyr397Ser)
c.998A>C (p.Tyr333Ser)
c.1217A>C (p.Tyr406Ser)
11g.113399156A>GCA382644468ANKK1c.1187A>G (p.Tyr396Cys)
c.1220A>G (p.Tyr407Cys)
c.1190A>G (p.Tyr397Cys)
c.998A>G (p.Tyr333Cys)
c.1217A>G (p.Tyr406Cys)
11g.113399156A>TCA382644469ANKK1c.1187A>T (p.Tyr396Phe)
c.1220A>T (p.Tyr407Phe)
c.1190A>T (p.Tyr397Phe)
c.998A>T (p.Tyr333Phe)
c.1217A>T (p.Tyr406Phe)
11g.113399157C>ACA382644470ANKK1c.1188C>A (p.Tyr396Ter)
c.1221C>A (p.Tyr407Ter)
c.1191C>A (p.Tyr397Ter)
c.999C>A (p.Tyr333Ter)
c.1218C>A (p.Tyr406Ter)
11g.113399157C=CA2001151708ANKK1c.1188C= (p.Tyr396=)
c.1221C= (p.Tyr407=)
c.1191C= (p.Tyr397=)
c.999C= (p.Tyr333=)
c.1218C= (p.Tyr406=)
11g.113399157C>GCA382644471ANKK1c.1188C>G (p.Tyr396Ter)
c.1221C>G (p.Tyr407Ter)
c.1191C>G (p.Tyr397Ter)
c.999C>G (p.Tyr333Ter)
c.1218C>G (p.Tyr406Ter)
11g.113399157C>TCA6280889ANKK1c.1188C>T (p.Tyr396=)
c.1221C>T (p.Tyr407=)
c.1191C>T (p.Tyr397=)
c.999C>T (p.Tyr333=)
c.1218C>T (p.Tyr406=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399158A>CCA382644472ANKK1c.1189A>C (p.Thr397Pro)
c.1222A>C (p.Thr408Pro)
c.1192A>C (p.Thr398Pro)
c.1000A>C (p.Thr334Pro)
c.1219A>C (p.Thr407Pro)
11g.113399158A>GCA382644473ANKK1c.1189A>G (p.Thr397Ala)
c.1222A>G (p.Thr408Ala)
c.1192A>G (p.Thr398Ala)
c.1000A>G (p.Thr334Ala)
c.1219A>G (p.Thr407Ala)
11g.113399158A>TCA382644474ANKK1c.1189A>T (p.Thr397Ser)
c.1222A>T (p.Thr408Ser)
c.1192A>T (p.Thr398Ser)
c.1000A>T (p.Thr334Ser)
c.1219A>T (p.Thr407Ser)
11g.113399159C>ACA6280890ANKK1c.1190C>A (p.Thr397Lys)
c.1223C>A (p.Thr408Lys)
c.1193C>A (p.Thr398Lys)
c.1001C>A (p.Thr334Lys)
c.1220C>A (p.Thr407Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.113399159C=CA2001151715ANKK1c.1190C= (p.Thr397=)
c.1223C= (p.Thr408=)
c.1193C= (p.Thr398=)
c.1001C= (p.Thr334=)
c.1220C= (p.Thr407=)
11g.113399159C>GCA382644475ANKK1c.1190C>G (p.Thr397Arg)
c.1223C>G (p.Thr408Arg)
c.1193C>G (p.Thr398Arg)
c.1001C>G (p.Thr334Arg)
c.1220C>G (p.Thr407Arg)
11g.113399159C>TCA6280891ANKK1c.1190C>T (p.Thr397Met)
c.1223C>T (p.Thr408Met)
c.1193C>T (p.Thr398Met)
c.1001C>T (p.Thr334Met)
c.1220C>T (p.Thr407Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399160G>ACA228614912ANKK1c.1191G>A (p.Thr397=)
c.1224G>A (p.Thr408=)
c.1194G>A (p.Thr398=)
c.1002G>A (p.Thr334=)
c.1221G>A (p.Thr407=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.113399160G>CCA477042660ANKK1c.1191G>C (p.Thr397=)
c.1224G>C (p.Thr408=)
c.1194G>C (p.Thr398=)
c.1002G>C (p.Thr334=)
c.1221G>C (p.Thr407=)
11g.113399160G=CA2001151721ANKK1c.1191G= (p.Thr397=)
c.1224G= (p.Thr408=)
c.1194G= (p.Thr398=)
c.1002G= (p.Thr334=)
c.1221G= (p.Thr407=)
11g.113399160G>TCA477042663ANKK1c.1191G>T (p.Thr397=)
c.1224G>T (p.Thr408=)
c.1194G>T (p.Thr398=)
c.1002G>T (p.Thr334=)
c.1221G>T (p.Thr407=)
11g.113399161C>ACA382644476ANKK1c.1192C>A (p.Pro398Thr)
c.1225C>A (p.Pro409Thr)
c.1195C>A (p.Pro399Thr)
c.1003C>A (p.Pro335Thr)
c.1222C>A (p.Pro408Thr)
 gnomAD v4
11g.113399161C=CA2001151724ANKK1c.1192C= (p.Pro398=)
c.1225C= (p.Pro409=)
c.1195C= (p.Pro399=)
c.1003C= (p.Pro335=)
c.1222C= (p.Pro408=)
11g.113399161C>GCA382644477ANKK1c.1192C>G (p.Pro398Ala)
c.1225C>G (p.Pro409Ala)
c.1195C>G (p.Pro399Ala)
c.1003C>G (p.Pro335Ala)
c.1222C>G (p.Pro408Ala)
11g.113399161C>TCA382644478ANKK1c.1192C>T (p.Pro398Ser)
c.1225C>T (p.Pro409Ser)
c.1195C>T (p.Pro399Ser)
c.1003C>T (p.Pro335Ser)
c.1222C>T (p.Pro408Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.113399162C>ACA382644479ANKK1c.1193C>A (p.Pro398His)
c.1226C>A (p.Pro409His)
c.1196C>A (p.Pro399His)
c.1004C>A (p.Pro335His)
c.1223C>A (p.Pro408His)
11g.113399162C>GCA382644480ANKK1c.1193C>G (p.Pro398Arg)
c.1226C>G (p.Pro409Arg)
c.1196C>G (p.Pro399Arg)
c.1004C>G (p.Pro335Arg)
c.1223C>G (p.Pro408Arg)
11g.113399162C>TCA382644481ANKK1c.1193C>T (p.Pro398Leu)
c.1226C>T (p.Pro409Leu)
c.1196C>T (p.Pro399Leu)
c.1004C>T (p.Pro335Leu)
c.1223C>T (p.Pro408Leu)
11g.113399163C>ACA477042668ANKK1c.1194C>A (p.Pro398=)
c.1227C>A (p.Pro409=)
c.1197C>A (p.Pro399=)
c.1005C>A (p.Pro335=)
c.1224C>A (p.Pro408=)
 gnomAD v4
11g.113399163C=CA2001151726ANKK1c.1194C= (p.Pro398=)
c.1227C= (p.Pro409=)
c.1197C= (p.Pro399=)
c.1005C= (p.Pro335=)
c.1224C= (p.Pro408=)
11g.113399163C>GCA477042670ANKK1c.1194C>G (p.Pro398=)
c.1227C>G (p.Pro409=)
c.1197C>G (p.Pro399=)
c.1005C>G (p.Pro335=)
c.1224C>G (p.Pro408=)
11g.113399163C>TCA477042673ANKK1c.1194C>T (p.Pro398=)
c.1227C>T (p.Pro409=)
c.1197C>T (p.Pro399=)
c.1005C>T (p.Pro335=)
c.1224C>T (p.Pro408=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.113399164C>ACA382644482ANKK1c.1195C>A (p.Leu399Ile)
c.1228C>A (p.Leu410Ile)
c.1198C>A (p.Leu400Ile)
c.1006C>A (p.Leu336Ile)
c.1225C>A (p.Leu409Ile)
 gnomAD v4
11g.113399164C>GCA382644484ANKK1c.1195C>G (p.Leu399Val)
c.1228C>G (p.Leu410Val)
c.1198C>G (p.Leu400Val)
c.1006C>G (p.Leu336Val)
c.1225C>G (p.Leu409Val)
11g.113399164C>TCA382644483ANKK1c.1195C>T (p.Leu399Phe)
c.1228C>T (p.Leu410Phe)
c.1198C>T (p.Leu400Phe)
c.1006C>T (p.Leu336Phe)
c.1225C>T (p.Leu409Phe)
11g.113399165T>ACA382644485ANKK1c.1196T>A (p.Leu399His)
c.1229T>A (p.Leu410His)
c.1199T>A (p.Leu400His)
c.1007T>A (p.Leu336His)
c.1226T>A (p.Leu409His)
11g.113399165T>CCA382644486ANKK1c.1196T>C (p.Leu399Pro)
c.1229T>C (p.Leu410Pro)
c.1199T>C (p.Leu400Pro)
c.1007T>C (p.Leu336Pro)
c.1226T>C (p.Leu409Pro)
11g.113399165T>GCA382644487ANKK1c.1196T>G (p.Leu399Arg)
c.1229T>G (p.Leu410Arg)
c.1199T>G (p.Leu400Arg)
c.1007T>G (p.Leu336Arg)
c.1226T>G (p.Leu409Arg)
11g.113399166C>ACA477042684ANKK1c.1197C>A (p.Leu399=)
c.1230C>A (p.Leu410=)
c.1200C>A (p.Leu400=)
c.1008C>A (p.Leu336=)
c.1227C>A (p.Leu409=)
 gnomAD v4
11g.113399166C=CA2001151731ANKK1c.1197C= (p.Leu399=)
c.1230C= (p.Leu410=)
c.1200C= (p.Leu400=)
c.1008C= (p.Leu336=)
c.1227C= (p.Leu409=)
11g.113399166C>GCA477042686ANKK1c.1197C>G (p.Leu399=)
c.1230C>G (p.Leu410=)
c.1200C>G (p.Leu400=)
c.1008C>G (p.Leu336=)
c.1227C>G (p.Leu409=)
11g.113399166C>TCA228614933ANKK1c.1197C>T (p.Leu399=)
c.1230C>T (p.Leu410=)
c.1200C>T (p.Leu400=)
c.1008C>T (p.Leu336=)
c.1227C>T (p.Leu409=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.113399167C>ACA382644488ANKK1c.1198C>A (p.Leu400Met)
c.1231C>A (p.Leu411Met)
c.1201C>A (p.Leu401Met)
c.1009C>A (p.Leu337Met)
c.1228C>A (p.Leu410Met)
 gnomAD v4
11g.113399167C>GCA382644489ANKK1c.1198C>G (p.Leu400Val)
c.1231C>G (p.Leu411Val)
c.1201C>G (p.Leu401Val)
c.1009C>G (p.Leu337Val)
c.1228C>G (p.Leu410Val)
 gnomAD v4
11g.113399167C>TCA477042687ANKK1c.1198C>T (p.Leu400=)
c.1231C>T (p.Leu411=)
c.1201C>T (p.Leu401=)
c.1009C>T (p.Leu337=)
c.1228C>T (p.Leu410=)
11g.113399168T>ACA382644490ANKK1c.1199T>A (p.Leu400Gln)
c.1232T>A (p.Leu411Gln)
c.1202T>A (p.Leu401Gln)
c.1010T>A (p.Leu337Gln)
c.1229T>A (p.Leu410Gln)
11g.113399168T>CCA382644491ANKK1c.1199T>C (p.Leu400Pro)
c.1232T>C (p.Leu411Pro)
c.1202T>C (p.Leu401Pro)
c.1010T>C (p.Leu337Pro)
c.1229T>C (p.Leu410Pro)
 gnomAD v4
11g.113399168T>GCA382644492ANKK1c.1199T>G (p.Leu400Arg)
c.1232T>G (p.Leu411Arg)
c.1202T>G (p.Leu401Arg)
c.1010T>G (p.Leu337Arg)
c.1229T>G (p.Leu410Arg)
11g.113399169G>ACA477042691ANKK1c.1200G>A (p.Leu400=)
c.1233G>A (p.Leu411=)
c.1203G>A (p.Leu401=)
c.1011G>A (p.Leu337=)
c.1230G>A (p.Leu410=)
 dbSNP gnomAD v2 gnomAD v4
11g.113399169G>CCA477042694ANKK1c.1200G>C (p.Leu400=)
c.1233G>C (p.Leu411=)
c.1203G>C (p.Leu401=)
c.1011G>C (p.Leu337=)
c.1230G>C (p.Leu410=)
11g.113399169G=CA2001151733ANKK1c.1200G= (p.Leu400=)
c.1233G= (p.Leu411=)
c.1203G= (p.Leu401=)
c.1011G= (p.Leu337=)
c.1230G= (p.Leu410=)
11g.113399169G>TCA477042698ANKK1c.1200G>T (p.Leu400=)
c.1233G>T (p.Leu411=)
c.1203G>T (p.Leu401=)
c.1011G>T (p.Leu337=)
c.1230G>T (p.Leu410=)
11g.113399170A=CA2001151735ANKK1c.1201A= (p.Ile401=)
c.1234A= (p.Ile412=)
c.1204A= (p.Ile402=)
c.1012A= (p.Ile338=)
c.1231A= (p.Ile411=)
11g.113399170A>CCA382644493ANKK1c.1201A>C (p.Ile401Leu)
c.1234A>C (p.Ile412Leu)
c.1204A>C (p.Ile402Leu)
c.1012A>C (p.Ile338Leu)
c.1231A>C (p.Ile411Leu)
11g.113399170A>GCA382644494ANKK1c.1201A>G (p.Ile401Val)
c.1234A>G (p.Ile412Val)
c.1204A>G (p.Ile402Val)
c.1012A>G (p.Ile338Val)
c.1231A>G (p.Ile411Val)
11g.113399170A>TCA382644495ANKK1c.1201A>T (p.Ile401Phe)
c.1234A>T (p.Ile412Phe)
c.1204A>T (p.Ile402Phe)
c.1012A>T (p.Ile338Phe)
c.1231A>T (p.Ile411Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.113399171T>ACA382644496ANKK1c.1202T>A (p.Ile401Asn)
c.1235T>A (p.Ile412Asn)
c.1205T>A (p.Ile402Asn)
c.1013T>A (p.Ile338Asn)
c.1232T>A (p.Ile411Asn)
11g.113399171T>CCA382644497ANKK1c.1202T>C (p.Ile401Thr)
c.1235T>C (p.Ile412Thr)
c.1205T>C (p.Ile402Thr)
c.1013T>C (p.Ile338Thr)
c.1232T>C (p.Ile411Thr)
11g.113399171T>GCA382644498ANKK1c.1202T>G (p.Ile401Ser)
c.1235T>G (p.Ile412Ser)
c.1205T>G (p.Ile402Ser)
c.1013T>G (p.Ile338Ser)
c.1232T>G (p.Ile411Ser)
11g.113399172C>ACA477042702ANKK1c.1203C>A (p.Ile401=)
c.1236C>A (p.Ile412=)
c.1206C>A (p.Ile402=)
c.1014C>A (p.Ile338=)
c.1233C>A (p.Ile411=)
 gnomAD v4
11g.113399172C=CA2001151739ANKK1c.1203C= (p.Ile401=)
c.1236C= (p.Ile412=)
c.1206C= (p.Ile402=)
c.1014C= (p.Ile338=)
c.1233C= (p.Ile411=)
11g.113399172C>GCA382644499ANKK1c.1203C>G (p.Ile401Met)
c.1236C>G (p.Ile412Met)
c.1206C>G (p.Ile402Met)
c.1014C>G (p.Ile338Met)
c.1233C>G (p.Ile411Met)
11g.113399172C>TCA477042706ANKK1c.1203C>T (p.Ile401=)
c.1236C>T (p.Ile412=)
c.1206C>T (p.Ile402=)
c.1014C>T (p.Ile338=)
c.1233C>T (p.Ile411=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.113399173G>ACA6280892ANKK1c.1204G>A (p.Ala402Thr)
c.1237G>A (p.Ala413Thr)
c.1207G>A (p.Ala403Thr)
c.1015G>A (p.Ala339Thr)
c.1234G>A (p.Ala412Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399173G>CCA382644500ANKK1c.1204G>C (p.Ala402Pro)
c.1237G>C (p.Ala413Pro)
c.1207G>C (p.Ala403Pro)
c.1015G>C (p.Ala339Pro)
c.1234G>C (p.Ala412Pro)
11g.113399173G=CA2001151745ANKK1c.1204G= (p.Ala402=)
c.1237G= (p.Ala413=)
c.1207G= (p.Ala403=)
c.1015G= (p.Ala339=)
c.1234G= (p.Ala412=)
11g.113399173G>TCA382644501ANKK1c.1204G>T (p.Ala402Ser)
c.1237G>T (p.Ala413Ser)
c.1207G>T (p.Ala403Ser)
c.1015G>T (p.Ala339Ser)
c.1234G>T (p.Ala412Ser)
11g.113399174C>ACA382644502ANKK1c.1205C>A (p.Ala402Asp)
c.1238C>A (p.Ala413Asp)
c.1208C>A (p.Ala403Asp)
c.1016C>A (p.Ala339Asp)
c.1235C>A (p.Ala412Asp)
 gnomAD v4
11g.113399174C>GCA382644503ANKK1c.1205C>G (p.Ala402Gly)
c.1238C>G (p.Ala413Gly)
c.1208C>G (p.Ala403Gly)
c.1016C>G (p.Ala339Gly)
c.1235C>G (p.Ala412Gly)
11g.113399174C>TCA382644504ANKK1c.1205C>T (p.Ala402Val)
c.1238C>T (p.Ala413Val)
c.1208C>T (p.Ala403Val)
c.1016C>T (p.Ala339Val)
c.1235C>T (p.Ala412Val)
11g.113399175C>ACA477042712ANKK1c.1206C>A (p.Ala402=)
c.1239C>A (p.Ala413=)
c.1209C>A (p.Ala403=)
c.1017C>A (p.Ala339=)
c.1236C>A (p.Ala412=)
11g.113399175C=CA2001151753ANKK1c.1206C= (p.Ala402=)
c.1239C= (p.Ala413=)
c.1209C= (p.Ala403=)
c.1017C= (p.Ala339=)
c.1236C= (p.Ala412=)
11g.113399175C>GCA477042714ANKK1c.1206C>G (p.Ala402=)
c.1239C>G (p.Ala413=)
c.1209C>G (p.Ala403=)
c.1017C>G (p.Ala339=)
c.1236C>G (p.Ala412=)
11g.113399175C>TCA6280893ANKK1c.1206C>T (p.Ala402=)
c.1239C>T (p.Ala413=)
c.1209C>T (p.Ala403=)
c.1017C>T (p.Ala339=)
c.1236C>T (p.Ala412=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399176G>ACA6280894ANKK1c.1207G>A (p.Ala403Thr)
c.1240G>A (p.Ala414Thr)
c.1210G>A (p.Ala404Thr)
c.1018G>A (p.Ala340Thr)
c.1237G>A (p.Ala413Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399176G>CCA382644505ANKK1c.1207G>C (p.Ala403Pro)
c.1240G>C (p.Ala414Pro)
c.1210G>C (p.Ala404Pro)
c.1018G>C (p.Ala340Pro)
c.1237G>C (p.Ala413Pro)
11g.113399176G=CA2001151757ANKK1c.1207G= (p.Ala403=)
c.1240G= (p.Ala414=)
c.1210G= (p.Ala404=)
c.1018G= (p.Ala340=)
c.1237G= (p.Ala413=)
11g.113399176G>TCA382644506ANKK1c.1207G>T (p.Ala403Ser)
c.1240G>T (p.Ala414Ser)
c.1210G>T (p.Ala404Ser)
c.1018G>T (p.Ala340Ser)
c.1237G>T (p.Ala413Ser)
 gnomAD v4
11g.113399177C>ACA382644507ANKK1c.1208C>A (p.Ala403Asp)
c.1241C>A (p.Ala414Asp)
c.1211C>A (p.Ala404Asp)
c.1019C>A (p.Ala340Asp)
c.1238C>A (p.Ala413Asp)
11g.113399177C=CA2001151761ANKK1c.1208C= (p.Ala403=)
c.1241C= (p.Ala414=)
c.1211C= (p.Ala404=)
c.1019C= (p.Ala340=)
c.1238C= (p.Ala413=)
11g.113399177C>GCA382644508ANKK1c.1208C>G (p.Ala403Gly)
c.1241C>G (p.Ala414Gly)
c.1211C>G (p.Ala404Gly)
c.1019C>G (p.Ala340Gly)
c.1238C>G (p.Ala413Gly)
11g.113399177C>TCA382644509ANKK1c.1208C>T (p.Ala403Val)
c.1241C>T (p.Ala414Val)
c.1211C>T (p.Ala404Val)
c.1019C>T (p.Ala340Val)
c.1238C>T (p.Ala413Val)
 dbSNP gnomAD v2 gnomAD v4
11g.113399179delCA2574982161ANKK1c.1210del (p.Gln404ArgfsTer?)
c.1243del (p.Gln415ArgfsTer?)
c.1213del (p.Gln405ArgfsTer?)
c.1021del (p.Gln341ArgfsTer?)
c.1240del (p.Gln414ArgfsTer?)
 gnomAD v4
11g.113399178C>ACA228614971ANKK1c.1209C>A (p.Ala403=)
c.1242C>A (p.Ala414=)
c.1212C>A (p.Ala404=)
c.1020C>A (p.Ala340=)
c.1239C>A (p.Ala413=)
 dbSNP gnomAD v2 gnomAD v4
11g.113399178C=CA2001151768ANKK1c.1209C= (p.Ala403=)
c.1242C= (p.Ala414=)
c.1212C= (p.Ala404=)
c.1020C= (p.Ala340=)
c.1239C= (p.Ala413=)
11g.113399178C>GCA477042718ANKK1c.1209C>G (p.Ala403=)
c.1242C>G (p.Ala414=)
c.1212C>G (p.Ala404=)
c.1020C>G (p.Ala340=)
c.1239C>G (p.Ala413=)
11g.113399178C>TCA477042717ANKK1c.1209C>T (p.Ala403=)
c.1242C>T (p.Ala414=)
c.1212C>T (p.Ala404=)
c.1020C>T (p.Ala340=)
c.1239C>T (p.Ala413=)
 dbSNP gnomAD v4
11g.113399179C>ACA6280895ANKK1c.1210C>A (p.Gln404Lys)
c.1243C>A (p.Gln415Lys)
c.1213C>A (p.Gln405Lys)
c.1021C>A (p.Gln341Lys)
c.1240C>A (p.Gln414Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399179C=CA2001151772ANKK1c.1210C= (p.Gln404=)
c.1243C= (p.Gln415=)
c.1213C= (p.Gln405=)
c.1021C= (p.Gln341=)
c.1240C= (p.Gln414=)
11g.113399179C>GCA382644511ANKK1c.1210C>G (p.Gln404Glu)
c.1243C>G (p.Gln415Glu)
c.1213C>G (p.Gln405Glu)
c.1021C>G (p.Gln341Glu)
c.1240C>G (p.Gln414Glu)
11g.113399179C>TCA382644510ANKK1c.1210C>T (p.Gln404Ter)
c.1243C>T (p.Gln415Ter)
c.1213C>T (p.Gln405Ter)
c.1021C>T (p.Gln341Ter)
c.1240C>T (p.Gln414Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.113399180A>CCA382644512ANKK1c.1211A>C (p.Gln404Pro)
c.1244A>C (p.Gln415Pro)
c.1214A>C (p.Gln405Pro)
c.1022A>C (p.Gln341Pro)
c.1241A>C (p.Gln414Pro)
11g.113399180A>GCA382644514ANKK1c.1211A>G (p.Gln404Arg)
c.1244A>G (p.Gln415Arg)
c.1214A>G (p.Gln405Arg)
c.1022A>G (p.Gln341Arg)
c.1241A>G (p.Gln414Arg)
 gnomAD v4
11g.113399180A>TCA382644513ANKK1c.1211A>T (p.Gln404Leu)
c.1244A>T (p.Gln415Leu)
c.1214A>T (p.Gln405Leu)
c.1022A>T (p.Gln341Leu)
c.1241A>T (p.Gln414Leu)
11g.113399181G>ACA228614991ANKK1c.1212G>A (p.Gln404=)
c.1245G>A (p.Gln415=)
c.1215G>A (p.Gln405=)
c.1023G>A (p.Gln341=)
c.1242G>A (p.Gln414=)
 dbSNP
11g.113399181G>CCA6280896ANKK1c.1212G>C (p.Gln404His)
c.1245G>C (p.Gln415His)
c.1215G>C (p.Gln405His)
c.1023G>C (p.Gln341His)
c.1242G>C (p.Gln414His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399181G=CA2001151776ANKK1c.1212G= (p.Gln404=)
c.1245G= (p.Gln415=)
c.1215G= (p.Gln405=)
c.1023G= (p.Gln341=)
c.1242G= (p.Gln414=)
11g.113399181G>TCA382644515ANKK1c.1212G>T (p.Gln404His)
c.1245G>T (p.Gln415His)
c.1215G>T (p.Gln405His)
c.1023G>T (p.Gln341His)
c.1242G>T (p.Gln414His)
 gnomAD v4
11g.113399182G>ACA6280897ANKK1c.1213G>A (p.Asp405Asn)
c.1246G>A (p.Asp416Asn)
c.1216G>A (p.Asp406Asn)
c.1024G>A (p.Asp342Asn)
c.1243G>A (p.Asp415Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399182G>CCA382644517ANKK1c.1213G>C (p.Asp405His)
c.1246G>C (p.Asp416His)
c.1216G>C (p.Asp406His)
c.1024G>C (p.Asp342His)
c.1243G>C (p.Asp415His)
11g.113399182G=CA2001151778ANKK1c.1213G= (p.Asp405=)
c.1246G= (p.Asp416=)
c.1216G= (p.Asp406=)
c.1024G= (p.Asp342=)
c.1243G= (p.Asp415=)
11g.113399182G>TCA382644516ANKK1c.1213G>T (p.Asp405Tyr)
c.1246G>T (p.Asp416Tyr)
c.1216G>T (p.Asp406Tyr)
c.1024G>T (p.Asp342Tyr)
c.1243G>T (p.Asp415Tyr)
 gnomAD v4
11g.113399183A=CA2001151782ANKK1c.1214A= (p.Asp405=)
c.1247A= (p.Asp416=)
c.1217A= (p.Asp406=)
c.1025A= (p.Asp342=)
c.1244A= (p.Asp415=)
11g.113399183A>CCA382644519ANKK1c.1214A>C (p.Asp405Ala)
c.1247A>C (p.Asp416Ala)
c.1217A>C (p.Asp406Ala)
c.1025A>C (p.Asp342Ala)
c.1244A>C (p.Asp415Ala)
11g.113399183A>GCA6280898ANKK1c.1214A>G (p.Asp405Gly)
c.1247A>G (p.Asp416Gly)
c.1217A>G (p.Asp406Gly)
c.1025A>G (p.Asp342Gly)
c.1244A>G (p.Asp415Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399183A>TCA382644520ANKK1c.1214A>T (p.Asp405Val)
c.1247A>T (p.Asp416Val)
c.1217A>T (p.Asp406Val)
c.1025A>T (p.Asp342Val)
c.1244A>T (p.Asp415Val)
11g.113399184C>ACA382644521ANKK1c.1215C>A (p.Asp405Glu)
c.1248C>A (p.Asp416Glu)
c.1218C>A (p.Asp406Glu)
c.1026C>A (p.Asp342Glu)
c.1245C>A (p.Asp415Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.113399184C=CA2001151786ANKK1c.1215C= (p.Asp405=)
c.1248C= (p.Asp416=)
c.1218C= (p.Asp406=)
c.1026C= (p.Asp342=)
c.1245C= (p.Asp415=)
11g.113399184C>GCA382644522ANKK1c.1215C>G (p.Asp405Glu)
c.1248C>G (p.Asp416Glu)
c.1218C>G (p.Asp406Glu)
c.1026C>G (p.Asp342Glu)
c.1245C>G (p.Asp415Glu)
11g.113399184C>TCA6280899ANKK1c.1215C>T (p.Asp405=)
c.1248C>T (p.Asp416=)
c.1218C>T (p.Asp406=)
c.1026C>T (p.Asp342=)
c.1245C>T (p.Asp415=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399185C>ACA382644523ANKK1c.1216C>A (p.Gln406Lys)
c.1249C>A (p.Gln417Lys)
c.1219C>A (p.Gln407Lys)
c.1027C>A (p.Gln343Lys)
c.1246C>A (p.Gln416Lys)
 gnomAD v4
11g.113399185C=CA2001151789ANKK1c.1216C= (p.Gln406=)
c.1249C= (p.Gln417=)
c.1219C= (p.Gln407=)
c.1027C= (p.Gln343=)
c.1246C= (p.Gln416=)
11g.113399185C>GCA6280900ANKK1c.1216C>G (p.Gln406Glu)
c.1249C>G (p.Gln417Glu)
c.1219C>G (p.Gln407Glu)
c.1027C>G (p.Gln343Glu)
c.1246C>G (p.Gln416Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399185C>TCA382644524ANKK1c.1216C>T (p.Gln406Ter)
c.1249C>T (p.Gln417Ter)
c.1219C>T (p.Gln407Ter)
c.1027C>T (p.Gln343Ter)
c.1246C>T (p.Gln416Ter)
 dbSNP gnomAD v2 gnomAD v4
11g.113399186A>CCA382644525ANKK1c.1217A>C (p.Gln406Pro)
c.1250A>C (p.Gln417Pro)
c.1220A>C (p.Gln407Pro)
c.1028A>C (p.Gln343Pro)
c.1247A>C (p.Gln416Pro)
11g.113399186A>GCA382644526ANKK1c.1217A>G (p.Gln406Arg)
c.1250A>G (p.Gln417Arg)
c.1220A>G (p.Gln407Arg)
c.1028A>G (p.Gln343Arg)
c.1247A>G (p.Gln416Arg)
 gnomAD v4 COSMIC
11g.113399186A>TCA382644527ANKK1c.1217A>T (p.Gln406Leu)
c.1250A>T (p.Gln417Leu)
c.1220A>T (p.Gln407Leu)
c.1028A>T (p.Gln343Leu)
c.1247A>T (p.Gln416Leu)
11g.113399187G>ACA477042733ANKK1c.1218G>A (p.Gln406=)
c.1251G>A (p.Gln417=)
c.1221G>A (p.Gln407=)
c.1029G>A (p.Gln343=)
c.1248G>A (p.Gln416=)
 dbSNP gnomAD v2 gnomAD v4
11g.113399187G>CCA382644529ANKK1c.1218G>C (p.Gln406His)
c.1251G>C (p.Gln417His)
c.1221G>C (p.Gln407His)
c.1029G>C (p.Gln343His)
c.1248G>C (p.Gln416His)
11g.113399187G=CA2001151792ANKK1c.1218G= (p.Gln406=)
c.1251G= (p.Gln417=)
c.1221G= (p.Gln407=)
c.1029G= (p.Gln343=)
c.1248G= (p.Gln416=)
11g.113399187G>TCA382644528ANKK1c.1218G>T (p.Gln406His)
c.1251G>T (p.Gln417His)
c.1221G>T (p.Gln407His)
c.1029G>T (p.Gln343His)
c.1248G>T (p.Gln416His)
11g.113399188C>ACA382644530ANKK1c.1219C>A (p.Gln407Lys)
c.1252C>A (p.Gln418Lys)
c.1222C>A (p.Gln408Lys)
c.1030C>A (p.Gln344Lys)
c.1249C>A (p.Gln417Lys)
 gnomAD v4
11g.113399188C=CA2001151795ANKK1c.1219C= (p.Gln407=)
c.1252C= (p.Gln418=)
c.1222C= (p.Gln408=)
c.1030C= (p.Gln344=)
c.1249C= (p.Gln417=)
11g.113399188C>GCA228615019ANKK1c.1219C>G (p.Gln407Glu)
c.1252C>G (p.Gln418Glu)
c.1222C>G (p.Gln408Glu)
c.1030C>G (p.Gln344Glu)
c.1249C>G (p.Gln417Glu)
 dbSNP gnomAD v4
11g.113399188C>TCA382644531ANKK1c.1219C>T (p.Gln407Ter)
c.1252C>T (p.Gln418Ter)
c.1222C>T (p.Gln408Ter)
c.1030C>T (p.Gln344Ter)
c.1249C>T (p.Gln417Ter)
 dbSNP gnomAD v2 gnomAD v4
11g.113399189A>CCA382644532ANKK1c.1220A>C (p.Gln407Pro)
c.1253A>C (p.Gln418Pro)
c.1223A>C (p.Gln408Pro)
c.1031A>C (p.Gln344Pro)
c.1250A>C (p.Gln417Pro)
11g.113399189A>GCA382644533ANKK1c.1220A>G (p.Gln407Arg)
c.1253A>G (p.Gln418Arg)
c.1223A>G (p.Gln408Arg)
c.1031A>G (p.Gln344Arg)
c.1250A>G (p.Gln417Arg)
11g.113399189A>TCA382644534ANKK1c.1220A>T (p.Gln407Leu)
c.1253A>T (p.Gln418Leu)
c.1223A>T (p.Gln408Leu)
c.1031A>T (p.Gln344Leu)
c.1250A>T (p.Gln417Leu)
11g.113399190A>CCA382644535ANKK1c.1221A>C (p.Gln407His)
c.1254A>C (p.Gln418His)
c.1224A>C (p.Gln408His)
c.1032A>C (p.Gln344His)
c.1251A>C (p.Gln417His)
11g.113399190A>GCA477042738ANKK1c.1221A>G (p.Gln407=)
c.1254A>G (p.Gln418=)
c.1224A>G (p.Gln408=)
c.1032A>G (p.Gln344=)
c.1251A>G (p.Gln417=)
11g.113399190A>TCA382644536ANKK1c.1221A>T (p.Gln407His)
c.1254A>T (p.Gln418His)
c.1224A>T (p.Gln408His)
c.1032A>T (p.Gln344His)
c.1251A>T (p.Gln417His)
11g.113399191C>ACA382644537ANKK1c.1222C>A (p.Pro408Thr)
c.1255C>A (p.Pro419Thr)
c.1225C>A (p.Pro409Thr)
c.1033C>A (p.Pro345Thr)
c.1252C>A (p.Pro418Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.113399191C=CA2001151800ANKK1c.1222C= (p.Pro408=)
c.1255C= (p.Pro419=)
c.1225C= (p.Pro409=)
c.1033C= (p.Pro345=)
c.1252C= (p.Pro418=)
11g.113399191C>GCA382644538ANKK1c.1222C>G (p.Pro408Ala)
c.1255C>G (p.Pro419Ala)
c.1225C>G (p.Pro409Ala)
c.1033C>G (p.Pro345Ala)
c.1252C>G (p.Pro418Ala)
11g.113399191C>TCA382644539ANKK1c.1222C>T (p.Pro408Ser)
c.1255C>T (p.Pro419Ser)
c.1225C>T (p.Pro409Ser)
c.1033C>T (p.Pro345Ser)
c.1252C>T (p.Pro418Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.113399192C>ACA382644541ANKK1c.1223C>A (p.Pro408His)
c.1256C>A (p.Pro419His)
c.1226C>A (p.Pro409His)
c.1034C>A (p.Pro345His)
c.1253C>A (p.Pro418His)
 gnomAD v4
11g.113399192C=CA2001151803ANKK1c.1223C= (p.Pro408=)
c.1256C= (p.Pro419=)
c.1226C= (p.Pro409=)
c.1034C= (p.Pro345=)
c.1253C= (p.Pro418=)
11g.113399192C>GCA382644540ANKK1c.1223C>G (p.Pro408Arg)
c.1256C>G (p.Pro419Arg)
c.1226C>G (p.Pro409Arg)
c.1034C>G (p.Pro345Arg)
c.1253C>G (p.Pro418Arg)
11g.113399192C>TCA228615020ANKK1c.1223C>T (p.Pro408Leu)
c.1256C>T (p.Pro419Leu)
c.1226C>T (p.Pro409Leu)
c.1034C>T (p.Pro345Leu)
c.1253C>T (p.Pro418Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
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)
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)

Number of alleles fetched