Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.113399116G>A | CA382644378 | ANKK1 | c.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 |
11 | g.113399116G>C | CA382644379 | ANKK1 | c.1147G>C (p.Ala383Pro) c.1180G>C (p.Ala394Pro) c.1150G>C (p.Ala384Pro) c.958G>C (p.Ala320Pro) c.1177G>C (p.Ala393Pro) | |
11 | g.113399116G>T | CA382644380 | ANKK1 | c.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 |
11 | g.113399117C>A | CA382644383 | ANKK1 | c.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 |
11 | g.113399117C= | CA2001151620 | ANKK1 | c.1148C= (p.Ala383=) c.1181C= (p.Ala394=) c.1151C= (p.Ala384=) c.959C= (p.Ala320=) c.1178C= (p.Ala393=) | |
11 | g.113399117C>G | CA382644381 | ANKK1 | c.1148C>G (p.Ala383Gly) c.1181C>G (p.Ala394Gly) c.1151C>G (p.Ala384Gly) c.959C>G (p.Ala320Gly) c.1178C>G (p.Ala393Gly) | |
11 | g.113399117C>T | CA382644382 | ANKK1 | c.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 |
11 | g.113399118C>A | CA477042380 | ANKK1 | c.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 |
11 | g.113399118C= | CA2001151623 | ANKK1 | c.1149C= (p.Ala383=) c.1182C= (p.Ala394=) c.1152C= (p.Ala384=) c.960C= (p.Ala320=) c.1179C= (p.Ala393=) | |
11 | g.113399118C>G | CA477042379 | ANKK1 | c.1149C>G (p.Ala383=) c.1182C>G (p.Ala394=) c.1152C>G (p.Ala384=) c.960C>G (p.Ala320=) c.1179C>G (p.Ala393=) | |
11 | g.113399118C>T | CA6280879 | ANKK1 | c.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 |
11 | g.113399119C>A | CA382644384 | ANKK1 | c.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 |
11 | g.113399119C>G | CA382644385 | ANKK1 | c.1150C>G (p.His384Asp) c.1183C>G (p.His395Asp) c.1153C>G (p.His385Asp) c.961C>G (p.His321Asp) c.1180C>G (p.His394Asp) | |
11 | g.113399119C>T | CA382644386 | ANKK1 | c.1150C>T (p.His384Tyr) c.1183C>T (p.His395Tyr) c.1153C>T (p.His385Tyr) c.961C>T (p.His321Tyr) c.1180C>T (p.His394Tyr) | |
11 | g.113399120A>C | CA382644387 | ANKK1 | c.1151A>C (p.His384Pro) c.1184A>C (p.His395Pro) c.1154A>C (p.His385Pro) c.962A>C (p.His321Pro) c.1181A>C (p.His394Pro) | |
11 | g.113399120A>G | CA382644388 | ANKK1 | c.1151A>G (p.His384Arg) c.1184A>G (p.His395Arg) c.1154A>G (p.His385Arg) c.962A>G (p.His321Arg) c.1181A>G (p.His394Arg) | |
11 | g.113399120A>T | CA382644389 | ANKK1 | c.1151A>T (p.His384Leu) c.1184A>T (p.His395Leu) c.1154A>T (p.His385Leu) c.962A>T (p.His321Leu) c.1181A>T (p.His394Leu) | |
11 | g.113399121C>A | CA382644390 | ANKK1 | c.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 |
11 | g.113399121C= | CA2001151626 | ANKK1 | c.1152C= (p.His384=) c.1185C= (p.His395=) c.1155C= (p.His385=) c.963C= (p.His321=) c.1182C= (p.His394=) | |
11 | g.113399121C>G | CA382644391 | ANKK1 | c.1152C>G (p.His384Gln) c.1185C>G (p.His395Gln) c.1155C>G (p.His385Gln) c.963C>G (p.His321Gln) c.1182C>G (p.His394Gln) | |
11 | g.113399121C>T | CA6280880 | ANKK1 | c.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 |
11 | g.113399122G>A | CA6280881 | ANKK1 | c.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 |
11 | g.113399122G>C | CA382644392 | ANKK1 | c.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 |
11 | g.113399122G= | CA2001151629 | ANKK1 | c.1153G= (p.Glu385=) c.1186G= (p.Glu396=) c.1156G= (p.Glu386=) c.964G= (p.Glu322=) c.1183G= (p.Glu395=) | |
11 | g.113399122G>T | CA382644393 | ANKK1 | c.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 |
11 | g.113399123A= | CA2001151634 | ANKK1 | c.1154A= (p.Glu385=) c.1187A= (p.Glu396=) c.1157A= (p.Glu386=) c.965A= (p.Glu322=) c.1184A= (p.Glu395=) | |
11 | g.113399123A>C | CA382644396 | ANKK1 | c.1154A>C (p.Glu385Ala) c.1187A>C (p.Glu396Ala) c.1157A>C (p.Glu386Ala) c.965A>C (p.Glu322Ala) c.1184A>C (p.Glu395Ala) | |
11 | g.113399123A>G | CA382644395 | ANKK1 | c.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 |
11 | g.113399123A>T | CA382644394 | ANKK1 | c.1154A>T (p.Glu385Val) c.1187A>T (p.Glu396Val) c.1157A>T (p.Glu386Val) c.965A>T (p.Glu322Val) c.1184A>T (p.Glu395Val) | |
11 | g.113399124G>A | CA477042398 | ANKK1 | c.1155G>A (p.Glu385=) c.1188G>A (p.Glu396=) c.1158G>A (p.Glu386=) c.966G>A (p.Glu322=) c.1185G>A (p.Glu395=) | |
11 | g.113399124G>C | CA382644398 | ANKK1 | c.1155G>C (p.Glu385Asp) c.1188G>C (p.Glu396Asp) c.1158G>C (p.Glu386Asp) c.966G>C (p.Glu322Asp) c.1185G>C (p.Glu395Asp) | |
11 | g.113399124G>T | CA382644397 | ANKK1 | c.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 |
11 | g.113399125G>A | CA382644400 | ANKK1 | c.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 |
11 | g.113399125G>C | CA382644399 | ANKK1 | c.1156G>C (p.Val386Leu) c.1189G>C (p.Val397Leu) c.1159G>C (p.Val387Leu) c.967G>C (p.Val323Leu) c.1186G>C (p.Val396Leu) | |
11 | g.113399125G= | CA2001151640 | ANKK1 | c.1156G= (p.Val386=) c.1189G= (p.Val397=) c.1159G= (p.Val387=) c.967G= (p.Val323=) c.1186G= (p.Val396=) | |
11 | g.113399125G>T | CA382644401 | ANKK1 | c.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 |
11 | g.113399126T>A | CA382644402 | ANKK1 | c.1157T>A (p.Val386Glu) c.1190T>A (p.Val397Glu) c.1160T>A (p.Val387Glu) c.968T>A (p.Val323Glu) c.1187T>A (p.Val396Glu) | |
11 | g.113399126T>C | CA382644403 | ANKK1 | c.1157T>C (p.Val386Ala) c.1190T>C (p.Val397Ala) c.1160T>C (p.Val387Ala) c.968T>C (p.Val323Ala) c.1187T>C (p.Val396Ala) | |
11 | g.113399126T>G | CA382644404 | ANKK1 | c.1157T>G (p.Val386Gly) c.1190T>G (p.Val397Gly) c.1160T>G (p.Val387Gly) c.968T>G (p.Val323Gly) c.1187T>G (p.Val396Gly) | |
11 | g.113399127A= | CA2001151644 | ANKK1 | c.1158A= (p.Val386=) c.1191A= (p.Val397=) c.1161A= (p.Val387=) c.969A= (p.Val323=) c.1188A= (p.Val396=) | |
11 | g.113399127A>C | CA6280882 | ANKK1 | c.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 |
11 | g.113399127A>G | CA477042414 | ANKK1 | c.1158A>G (p.Val386=) c.1191A>G (p.Val397=) c.1161A>G (p.Val387=) c.969A>G (p.Val323=) c.1188A>G (p.Val396=) | |
11 | g.113399127A>T | CA477042417 | ANKK1 | c.1158A>T (p.Val386=) c.1191A>T (p.Val397=) c.1161A>T (p.Val387=) c.969A>T (p.Val323=) c.1188A>T (p.Val396=) | |
11 | g.113399128G>A | CA382644405 | ANKK1 | c.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 |
11 | g.113399128G>C | CA382644406 | ANKK1 | c.1159G>C (p.Asp387His) c.1192G>C (p.Asp398His) c.1162G>C (p.Asp388His) c.970G>C (p.Asp324His) c.1189G>C (p.Asp397His) | |
11 | g.113399128G= | CA2001151647 | ANKK1 | c.1159G= (p.Asp387=) c.1192G= (p.Asp398=) c.1162G= (p.Asp388=) c.970G= (p.Asp324=) c.1189G= (p.Asp397=) | |
11 | g.113399128G>T | CA6280883 | ANKK1 | c.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 |
11 | g.113399129A>C | CA382644407 | ANKK1 | c.1160A>C (p.Asp387Ala) c.1193A>C (p.Asp398Ala) c.1163A>C (p.Asp388Ala) c.971A>C (p.Asp324Ala) c.1190A>C (p.Asp397Ala) | |
11 | g.113399129A>G | CA382644408 | ANKK1 | c.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 |
11 | g.113399129A>T | CA382644409 | ANKK1 | c.1160A>T (p.Asp387Val) c.1193A>T (p.Asp398Val) c.1163A>T (p.Asp388Val) c.971A>T (p.Asp324Val) c.1190A>T (p.Asp397Val) | |
11 | g.113399130C>A | CA382644410 | ANKK1 | c.1161C>A (p.Asp387Glu) c.1194C>A (p.Asp398Glu) c.1164C>A (p.Asp388Glu) c.972C>A (p.Asp324Glu) c.1191C>A (p.Asp397Glu) | |
11 | g.113399130C= | CA2001151655 | ANKK1 | c.1161C= (p.Asp387=) c.1194C= (p.Asp398=) c.1164C= (p.Asp388=) c.972C= (p.Asp324=) c.1191C= (p.Asp397=) | |
11 | g.113399130C>G | CA382644411 | ANKK1 | c.1161C>G (p.Asp387Glu) c.1194C>G (p.Asp398Glu) c.1164C>G (p.Asp388Glu) c.972C>G (p.Asp324Glu) c.1191C>G (p.Asp397Glu) | |
11 | g.113399130C>T | CA6280884 | ANKK1 | c.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 |
11 | g.113399131G>A | CA6280885 | ANKK1 | c.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 |
11 | g.113399131G>C | CA382644412 | ANKK1 | c.1162G>C (p.Val388Leu) c.1195G>C (p.Val399Leu) c.1165G>C (p.Val389Leu) c.973G>C (p.Val325Leu) c.1192G>C (p.Val398Leu) | |
11 | g.113399131G= | CA2001151665 | ANKK1 | c.1162G= (p.Val388=) c.1195G= (p.Val399=) c.1165G= (p.Val389=) c.973G= (p.Val325=) c.1192G= (p.Val398=) | |
11 | g.113399131G>T | CA382644413 | ANKK1 | c.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 |
11 | g.113399132_113399134del | CA2616032662 | ANKK1 | c.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 |
11 | g.113399132T>A | CA382644414 | ANKK1 | c.1163T>A (p.Val388Glu) c.1196T>A (p.Val399Glu) c.1166T>A (p.Val389Glu) c.974T>A (p.Val325Glu) c.1193T>A (p.Val398Glu) | |
11 | g.113399132T>C | CA382644415 | ANKK1 | c.1163T>C (p.Val388Ala) c.1196T>C (p.Val399Ala) c.1166T>C (p.Val389Ala) c.974T>C (p.Val325Ala) c.1193T>C (p.Val398Ala) | |
11 | g.113399132T>G | CA382644416 | ANKK1 | c.1163T>G (p.Val388Gly) c.1196T>G (p.Val399Gly) c.1166T>G (p.Val389Gly) c.974T>G (p.Val325Gly) c.1193T>G (p.Val398Gly) | |
11 | g.113399133G>A | CA477042434 | ANKK1 | c.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 |
11 | g.113399133G>C | CA477042436 | ANKK1 | c.1164G>C (p.Val388=) c.1197G>C (p.Val399=) c.1167G>C (p.Val389=) c.975G>C (p.Val325=) c.1194G>C (p.Val398=) | |
11 | g.113399133G= | CA2001151667 | ANKK1 | c.1164G= (p.Val388=) c.1197G= (p.Val399=) c.1167G= (p.Val389=) c.975G= (p.Val325=) c.1194G= (p.Val398=) | |
11 | g.113399133G>T | CA228614845 | ANKK1 | c.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 |
11 | g.113399134G>A | CA382644417 | ANKK1 | c.1165G>A (p.Asp389Asn) c.1198G>A (p.Asp400Asn) c.1168G>A (p.Asp390Asn) c.976G>A (p.Asp326Asn) c.1195G>A (p.Asp399Asn) | |
11 | g.113399134G>C | CA382644418 | ANKK1 | c.1165G>C (p.Asp389His) c.1198G>C (p.Asp400His) c.1168G>C (p.Asp390His) c.976G>C (p.Asp326His) c.1195G>C (p.Asp399His) | |
11 | g.113399134G>T | CA382644419 | ANKK1 | c.1165G>T (p.Asp389Tyr) c.1198G>T (p.Asp400Tyr) c.1168G>T (p.Asp390Tyr) c.976G>T (p.Asp326Tyr) c.1195G>T (p.Asp399Tyr) | |
11 | g.113399135A>C | CA382644420 | ANKK1 | c.1166A>C (p.Asp389Ala) c.1199A>C (p.Asp400Ala) c.1169A>C (p.Asp390Ala) c.977A>C (p.Asp326Ala) c.1196A>C (p.Asp399Ala) | |
11 | g.113399135A>G | CA382644421 | ANKK1 | c.1166A>G (p.Asp389Gly) c.1199A>G (p.Asp400Gly) c.1169A>G (p.Asp390Gly) c.977A>G (p.Asp326Gly) c.1196A>G (p.Asp399Gly) | |
11 | g.113399135A>T | CA382644422 | ANKK1 | c.1166A>T (p.Asp389Val) c.1199A>T (p.Asp400Val) c.1169A>T (p.Asp390Val) c.977A>T (p.Asp326Val) c.1196A>T (p.Asp399Val) | |
11 | g.113399136C>A | CA382644423 | ANKK1 | c.1167C>A (p.Asp389Glu) c.1200C>A (p.Asp400Glu) c.1170C>A (p.Asp390Glu) c.978C>A (p.Asp326Glu) c.1197C>A (p.Asp399Glu) | |
11 | g.113399136C>G | CA382644424 | ANKK1 | c.1167C>G (p.Asp389Glu) c.1200C>G (p.Asp400Glu) c.1170C>G (p.Asp390Glu) c.978C>G (p.Asp326Glu) c.1197C>G (p.Asp399Glu) | |
11 | g.113399136C>T | CA477042453 | ANKK1 | c.1167C>T (p.Asp389=) c.1200C>T (p.Asp400=) c.1170C>T (p.Asp390=) c.978C>T (p.Asp326=) c.1197C>T (p.Asp399=) | |
11 | g.113399137T>A | CA382644427 | ANKK1 | c.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 |
11 | g.113399137T>C | CA382644426 | ANKK1 | c.1168T>C (p.Cys390Arg) c.1201T>C (p.Cys401Arg) c.1171T>C (p.Cys391Arg) c.979T>C (p.Cys327Arg) c.1198T>C (p.Cys400Arg) | |
11 | g.113399137T>G | CA382644425 | ANKK1 | c.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 |
11 | g.113399137T= | CA2001151672 | ANKK1 | c.1168T= (p.Cys390=) c.1201T= (p.Cys401=) c.1171T= (p.Cys391=) c.979T= (p.Cys327=) c.1198T= (p.Cys400=) | |
11 | g.113399138G>A | CA382644428 | ANKK1 | c.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 |
11 | g.113399138G>C | CA382644429 | ANKK1 | c.1169G>C (p.Cys390Ser) c.1202G>C (p.Cys401Ser) c.1172G>C (p.Cys391Ser) c.980G>C (p.Cys327Ser) c.1199G>C (p.Cys400Ser) | |
11 | g.113399138G= | CA2001151675 | ANKK1 | c.1169G= (p.Cys390=) c.1202G= (p.Cys401=) c.1172G= (p.Cys391=) c.980G= (p.Cys327=) c.1199G= (p.Cys400=) | |
11 | g.113399138G>T | CA382644430 | ANKK1 | c.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 |
11 | g.113399139C>A | CA382644431 | ANKK1 | c.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 |
11 | g.113399139C= | CA2001151678 | ANKK1 | c.1170C= (p.Cys390=) c.1203C= (p.Cys401=) c.1173C= (p.Cys391=) c.981C= (p.Cys327=) c.1200C= (p.Cys400=) | |
11 | g.113399139C>G | CA382644432 | ANKK1 | c.1170C>G (p.Cys390Trp) c.1203C>G (p.Cys401Trp) c.1173C>G (p.Cys391Trp) c.981C>G (p.Cys327Trp) c.1200C>G (p.Cys400Trp) | |
11 | g.113399139C>T | CA228614846 | ANKK1 | c.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 |
11 | g.113399140del | CA2793663331 | ANKK1 | c.1171del (p.Gln391ArgfsTer10) c.1204del (p.Gln402ArgfsTer10) c.1174del (p.Gln392ArgfsTer10) c.982del (p.Gln328ArgfsTer10) c.1201del (p.Gln401ArgfsTer10) | |
11 | g.113399140C>A | CA382644433 | ANKK1 | c.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 |
11 | g.113399140C= | CA2001151682 | ANKK1 | c.1171C= (p.Gln391=) c.1204C= (p.Gln402=) c.1174C= (p.Gln392=) c.982C= (p.Gln328=) c.1201C= (p.Gln401=) | |
11 | g.113399140C>G | CA382644434 | ANKK1 | c.1171C>G (p.Gln391Glu) c.1204C>G (p.Gln402Glu) c.1174C>G (p.Gln392Glu) c.982C>G (p.Gln328Glu) c.1201C>G (p.Gln401Glu) | |
11 | g.113399140C>T | CA382644435 | ANKK1 | c.1171C>T (p.Gln391Ter) c.1204C>T (p.Gln402Ter) c.1174C>T (p.Gln392Ter) c.982C>T (p.Gln328Ter) c.1201C>T (p.Gln401Ter) | |
11 | g.113399141A>C | CA382644436 | ANKK1 | c.1172A>C (p.Gln391Pro) c.1205A>C (p.Gln402Pro) c.1175A>C (p.Gln392Pro) c.983A>C (p.Gln328Pro) c.1202A>C (p.Gln401Pro) | |
11 | g.113399141A>G | CA382644437 | ANKK1 | c.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 |
11 | g.113399141A>T | CA382644438 | ANKK1 | c.1172A>T (p.Gln391Leu) c.1205A>T (p.Gln402Leu) c.1175A>T (p.Gln392Leu) c.983A>T (p.Gln328Leu) c.1202A>T (p.Gln401Leu) | |
11 | g.113399142G>A | CA477042465 | ANKK1 | c.1173G>A (p.Gln391=) c.1206G>A (p.Gln402=) c.1176G>A (p.Gln392=) c.984G>A (p.Gln328=) c.1203G>A (p.Gln401=) | |
11 | g.113399142G>C | CA382644439 | ANKK1 | c.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 |
11 | g.113399142G>T | CA382644440 | ANKK1 | c.1173G>T (p.Gln391His) c.1206G>T (p.Gln402His) c.1176G>T (p.Gln392His) c.984G>T (p.Gln328His) c.1203G>T (p.Gln401His) | |
11 | g.113399143A>C | CA382644443 | ANKK1 | c.1174A>C (p.Thr392Pro) c.1207A>C (p.Thr403Pro) c.1177A>C (p.Thr393Pro) c.985A>C (p.Thr329Pro) c.1204A>C (p.Thr402Pro) | |
11 | g.113399143A>G | CA382644441 | ANKK1 | c.1174A>G (p.Thr392Ala) c.1207A>G (p.Thr403Ala) c.1177A>G (p.Thr393Ala) c.985A>G (p.Thr329Ala) c.1204A>G (p.Thr402Ala) | |
11 | g.113399143A>T | CA382644442 | ANKK1 | c.1174A>T (p.Thr392Ser) c.1207A>T (p.Thr403Ser) c.1177A>T (p.Thr393Ser) c.985A>T (p.Thr329Ser) c.1204A>T (p.Thr402Ser) | |
11 | g.113399144C>A | CA382644444 | ANKK1 | c.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 |
11 | g.113399144C= | CA2001151686 | ANKK1 | c.1175C= (p.Thr392=) c.1208C= (p.Thr403=) c.1178C= (p.Thr393=) c.986C= (p.Thr329=) c.1205C= (p.Thr402=) | |
11 | g.113399144C>G | CA382644445 | ANKK1 | c.1175C>G (p.Thr392Arg) c.1208C>G (p.Thr403Arg) c.1178C>G (p.Thr393Arg) c.986C>G (p.Thr329Arg) c.1205C>G (p.Thr402Arg) | |
11 | g.113399144C>T | CA6280886 | ANKK1 | c.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 |
11 | g.113399145_113399147del | CA2550646406 | ANKK1 | c.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 |
11 | g.113399145G>A | CA6280887 | ANKK1 | c.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 |
11 | g.113399145G>C | CA477042469 | ANKK1 | c.1176G>C (p.Thr392=) c.1209G>C (p.Thr403=) c.1179G>C (p.Thr393=) c.987G>C (p.Thr329=) c.1206G>C (p.Thr402=) | |
11 | g.113399145G= | CA2001151694 | ANKK1 | c.1176G= (p.Thr392=) c.1209G= (p.Thr403=) c.1179G= (p.Thr393=) c.987G= (p.Thr329=) c.1206G= (p.Thr402=) | |
11 | g.113399145G>T | CA477042471 | ANKK1 | c.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 |
11 | g.113399146G>A | CA382644446 | ANKK1 | c.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 |
11 | g.113399146G>C | CA382644447 | ANKK1 | c.1177G>C (p.Ala393Pro) c.1210G>C (p.Ala404Pro) c.1180G>C (p.Ala394Pro) c.988G>C (p.Ala330Pro) c.1207G>C (p.Ala403Pro) | |
11 | g.113399146G= | CA2001151698 | ANKK1 | c.1177G= (p.Ala393=) c.1210G= (p.Ala404=) c.1180G= (p.Ala394=) c.988G= (p.Ala330=) c.1207G= (p.Ala403=) | |
11 | g.113399146G>T | CA382644448 | ANKK1 | c.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 |
11 | g.113399147C>A | CA382644449 | ANKK1 | c.1178C>A (p.Ala393Asp) c.1211C>A (p.Ala404Asp) c.1181C>A (p.Ala394Asp) c.989C>A (p.Ala330Asp) c.1208C>A (p.Ala403Asp) | |
11 | g.113399147C>G | CA382644450 | ANKK1 | c.1178C>G (p.Ala393Gly) c.1211C>G (p.Ala404Gly) c.1181C>G (p.Ala394Gly) c.989C>G (p.Ala330Gly) c.1208C>G (p.Ala403Gly) | |
11 | g.113399147C>T | CA382644451 | ANKK1 | c.1178C>T (p.Ala393Val) c.1211C>T (p.Ala404Val) c.1181C>T (p.Ala394Val) c.989C>T (p.Ala330Val) c.1208C>T (p.Ala403Val) | |
11 | g.113399148C>A | CA477042637 | ANKK1 | c.1179C>A (p.Ala393=) c.1212C>A (p.Ala404=) c.1182C>A (p.Ala394=) c.990C>A (p.Ala330=) c.1209C>A (p.Ala403=) | |
11 | g.113399148C= | CA2001151701 | ANKK1 | c.1179C= (p.Ala393=) c.1212C= (p.Ala404=) c.1182C= (p.Ala394=) c.990C= (p.Ala330=) c.1209C= (p.Ala403=) | |
11 | g.113399148C>G | CA477042638 | ANKK1 | c.1179C>G (p.Ala393=) c.1212C>G (p.Ala404=) c.1182C>G (p.Ala394=) c.990C>G (p.Ala330=) c.1209C>G (p.Ala403=) | |
11 | g.113399148C>T | CA6280888 | ANKK1 | c.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 |
11 | g.113399149T>A | CA382644454 | ANKK1 | c.1180T>A (p.Ser394Thr) c.1213T>A (p.Ser405Thr) c.1183T>A (p.Ser395Thr) c.991T>A (p.Ser331Thr) c.1210T>A (p.Ser404Thr) | |
11 | g.113399149T>C | CA382644453 | ANKK1 | c.1180T>C (p.Ser394Pro) c.1213T>C (p.Ser405Pro) c.1183T>C (p.Ser395Pro) c.991T>C (p.Ser331Pro) c.1210T>C (p.Ser404Pro) | |
11 | g.113399149T>G | CA382644452 | ANKK1 | c.1180T>G (p.Ser394Ala) c.1213T>G (p.Ser405Ala) c.1183T>G (p.Ser395Ala) c.991T>G (p.Ser331Ala) c.1210T>G (p.Ser404Ala) | |
11 | g.113399150C>A | CA382644455 | ANKK1 | c.1181C>A (p.Ser394Tyr) c.1214C>A (p.Ser405Tyr) c.1184C>A (p.Ser395Tyr) c.992C>A (p.Ser331Tyr) c.1211C>A (p.Ser404Tyr) | |
11 | g.113399150C>G | CA382644456 | ANKK1 | c.1181C>G (p.Ser394Cys) c.1214C>G (p.Ser405Cys) c.1184C>G (p.Ser395Cys) c.992C>G (p.Ser331Cys) c.1211C>G (p.Ser404Cys) | |
11 | g.113399150C>T | CA382644457 | ANKK1 | c.1181C>T (p.Ser394Phe) c.1214C>T (p.Ser405Phe) c.1184C>T (p.Ser395Phe) c.992C>T (p.Ser331Phe) c.1211C>T (p.Ser404Phe) | |
11 | g.113399151T>A | CA477042641 | ANKK1 | c.1182T>A (p.Ser394=) c.1215T>A (p.Ser405=) c.1185T>A (p.Ser395=) c.993T>A (p.Ser331=) c.1212T>A (p.Ser404=) | |
11 | g.113399151T>C | CA477042643 | ANKK1 | c.1182T>C (p.Ser394=) c.1215T>C (p.Ser405=) c.1185T>C (p.Ser395=) c.993T>C (p.Ser331=) c.1212T>C (p.Ser404=) | |
11 | g.113399151T>G | CA477042645 | ANKK1 | c.1182T>G (p.Ser394=) c.1215T>G (p.Ser405=) c.1185T>G (p.Ser395=) c.993T>G (p.Ser331=) c.1212T>G (p.Ser404=) | |
11 | g.113399152G>A | CA382644458 | ANKK1 | c.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 |
11 | g.113399152G>C | CA382644459 | ANKK1 | c.1183G>C (p.Gly395Arg) c.1216G>C (p.Gly406Arg) c.1186G>C (p.Gly396Arg) c.994G>C (p.Gly332Arg) c.1213G>C (p.Gly405Arg) | |
11 | g.113399152G= | CA2001151703 | ANKK1 | c.1183G= (p.Gly395=) c.1216G= (p.Gly406=) c.1186G= (p.Gly396=) c.994G= (p.Gly332=) c.1213G= (p.Gly405=) | |
11 | g.113399152G>T | CA382644460 | ANKK1 | c.1183G>T (p.Gly395Ter) c.1216G>T (p.Gly406Ter) c.1186G>T (p.Gly396Ter) c.994G>T (p.Gly332Ter) c.1213G>T (p.Gly405Ter) | |
11 | g.113399153G>A | CA382644463 | ANKK1 | c.1184G>A (p.Gly395Glu) c.1217G>A (p.Gly406Glu) c.1187G>A (p.Gly396Glu) c.995G>A (p.Gly332Glu) c.1214G>A (p.Gly405Glu) | |
11 | g.113399153G>C | CA382644462 | ANKK1 | c.1184G>C (p.Gly395Ala) c.1217G>C (p.Gly406Ala) c.1187G>C (p.Gly396Ala) c.995G>C (p.Gly332Ala) c.1214G>C (p.Gly405Ala) | |
11 | g.113399153G>T | CA382644461 | ANKK1 | c.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 |
11 | g.113399154A>C | CA477042649 | ANKK1 | c.1185A>C (p.Gly395=) c.1218A>C (p.Gly406=) c.1188A>C (p.Gly396=) c.996A>C (p.Gly332=) c.1215A>C (p.Gly405=) | |
11 | g.113399154A>G | CA477042651 | ANKK1 | c.1185A>G (p.Gly395=) c.1218A>G (p.Gly406=) c.1188A>G (p.Gly396=) c.996A>G (p.Gly332=) c.1215A>G (p.Gly405=) | |
11 | g.113399154A>T | CA477042653 | ANKK1 | c.1185A>T (p.Gly395=) c.1218A>T (p.Gly406=) c.1188A>T (p.Gly396=) c.996A>T (p.Gly332=) c.1215A>T (p.Gly405=) | |
11 | g.113399155T>A | CA382644464 | ANKK1 | c.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 |
11 | g.113399155T>C | CA382644465 | ANKK1 | c.1186T>C (p.Tyr396His) c.1219T>C (p.Tyr407His) c.1189T>C (p.Tyr397His) c.997T>C (p.Tyr333His) c.1216T>C (p.Tyr406His) | |
11 | g.113399155T>G | CA382644466 | ANKK1 | c.1186T>G (p.Tyr396Asp) c.1219T>G (p.Tyr407Asp) c.1189T>G (p.Tyr397Asp) c.997T>G (p.Tyr333Asp) c.1216T>G (p.Tyr406Asp) | |
11 | g.113399156A>C | CA382644467 | ANKK1 | c.1187A>C (p.Tyr396Ser) c.1220A>C (p.Tyr407Ser) c.1190A>C (p.Tyr397Ser) c.998A>C (p.Tyr333Ser) c.1217A>C (p.Tyr406Ser) | |
11 | g.113399156A>G | CA382644468 | ANKK1 | c.1187A>G (p.Tyr396Cys) c.1220A>G (p.Tyr407Cys) c.1190A>G (p.Tyr397Cys) c.998A>G (p.Tyr333Cys) c.1217A>G (p.Tyr406Cys) | |
11 | g.113399156A>T | CA382644469 | ANKK1 | c.1187A>T (p.Tyr396Phe) c.1220A>T (p.Tyr407Phe) c.1190A>T (p.Tyr397Phe) c.998A>T (p.Tyr333Phe) c.1217A>T (p.Tyr406Phe) | |
11 | g.113399157C>A | CA382644470 | ANKK1 | c.1188C>A (p.Tyr396Ter) c.1221C>A (p.Tyr407Ter) c.1191C>A (p.Tyr397Ter) c.999C>A (p.Tyr333Ter) c.1218C>A (p.Tyr406Ter) | |
11 | g.113399157C= | CA2001151708 | ANKK1 | c.1188C= (p.Tyr396=) c.1221C= (p.Tyr407=) c.1191C= (p.Tyr397=) c.999C= (p.Tyr333=) c.1218C= (p.Tyr406=) | |
11 | g.113399157C>G | CA382644471 | ANKK1 | c.1188C>G (p.Tyr396Ter) c.1221C>G (p.Tyr407Ter) c.1191C>G (p.Tyr397Ter) c.999C>G (p.Tyr333Ter) c.1218C>G (p.Tyr406Ter) | |
11 | g.113399157C>T | CA6280889 | ANKK1 | c.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 |
11 | g.113399158A>C | CA382644472 | ANKK1 | c.1189A>C (p.Thr397Pro) c.1222A>C (p.Thr408Pro) c.1192A>C (p.Thr398Pro) c.1000A>C (p.Thr334Pro) c.1219A>C (p.Thr407Pro) | |
11 | g.113399158A>G | CA382644473 | ANKK1 | c.1189A>G (p.Thr397Ala) c.1222A>G (p.Thr408Ala) c.1192A>G (p.Thr398Ala) c.1000A>G (p.Thr334Ala) c.1219A>G (p.Thr407Ala) | |
11 | g.113399158A>T | CA382644474 | ANKK1 | c.1189A>T (p.Thr397Ser) c.1222A>T (p.Thr408Ser) c.1192A>T (p.Thr398Ser) c.1000A>T (p.Thr334Ser) c.1219A>T (p.Thr407Ser) | |
11 | g.113399159C>A | CA6280890 | ANKK1 | c.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 |
11 | g.113399159C= | CA2001151715 | ANKK1 | c.1190C= (p.Thr397=) c.1223C= (p.Thr408=) c.1193C= (p.Thr398=) c.1001C= (p.Thr334=) c.1220C= (p.Thr407=) | |
11 | g.113399159C>G | CA382644475 | ANKK1 | c.1190C>G (p.Thr397Arg) c.1223C>G (p.Thr408Arg) c.1193C>G (p.Thr398Arg) c.1001C>G (p.Thr334Arg) c.1220C>G (p.Thr407Arg) | |
11 | g.113399159C>T | CA6280891 | ANKK1 | c.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 |
11 | g.113399160G>A | CA228614912 | ANKK1 | c.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 |
11 | g.113399160G>C | CA477042660 | ANKK1 | c.1191G>C (p.Thr397=) c.1224G>C (p.Thr408=) c.1194G>C (p.Thr398=) c.1002G>C (p.Thr334=) c.1221G>C (p.Thr407=) | |
11 | g.113399160G= | CA2001151721 | ANKK1 | c.1191G= (p.Thr397=) c.1224G= (p.Thr408=) c.1194G= (p.Thr398=) c.1002G= (p.Thr334=) c.1221G= (p.Thr407=) | |
11 | g.113399160G>T | CA477042663 | ANKK1 | c.1191G>T (p.Thr397=) c.1224G>T (p.Thr408=) c.1194G>T (p.Thr398=) c.1002G>T (p.Thr334=) c.1221G>T (p.Thr407=) | |
11 | g.113399161C>A | CA382644476 | ANKK1 | c.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 |
11 | g.113399161C= | CA2001151724 | ANKK1 | c.1192C= (p.Pro398=) c.1225C= (p.Pro409=) c.1195C= (p.Pro399=) c.1003C= (p.Pro335=) c.1222C= (p.Pro408=) | |
11 | g.113399161C>G | CA382644477 | ANKK1 | c.1192C>G (p.Pro398Ala) c.1225C>G (p.Pro409Ala) c.1195C>G (p.Pro399Ala) c.1003C>G (p.Pro335Ala) c.1222C>G (p.Pro408Ala) | |
11 | g.113399161C>T | CA382644478 | ANKK1 | c.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 |
11 | g.113399162C>A | CA382644479 | ANKK1 | c.1193C>A (p.Pro398His) c.1226C>A (p.Pro409His) c.1196C>A (p.Pro399His) c.1004C>A (p.Pro335His) c.1223C>A (p.Pro408His) | |
11 | g.113399162C>G | CA382644480 | ANKK1 | c.1193C>G (p.Pro398Arg) c.1226C>G (p.Pro409Arg) c.1196C>G (p.Pro399Arg) c.1004C>G (p.Pro335Arg) c.1223C>G (p.Pro408Arg) | |
11 | g.113399162C>T | CA382644481 | ANKK1 | c.1193C>T (p.Pro398Leu) c.1226C>T (p.Pro409Leu) c.1196C>T (p.Pro399Leu) c.1004C>T (p.Pro335Leu) c.1223C>T (p.Pro408Leu) | |
11 | g.113399163C>A | CA477042668 | ANKK1 | c.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 |
11 | g.113399163C= | CA2001151726 | ANKK1 | c.1194C= (p.Pro398=) c.1227C= (p.Pro409=) c.1197C= (p.Pro399=) c.1005C= (p.Pro335=) c.1224C= (p.Pro408=) | |
11 | g.113399163C>G | CA477042670 | ANKK1 | c.1194C>G (p.Pro398=) c.1227C>G (p.Pro409=) c.1197C>G (p.Pro399=) c.1005C>G (p.Pro335=) c.1224C>G (p.Pro408=) | |
11 | g.113399163C>T | CA477042673 | ANKK1 | c.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 |
11 | g.113399164C>A | CA382644482 | ANKK1 | c.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 |
11 | g.113399164C>G | CA382644484 | ANKK1 | c.1195C>G (p.Leu399Val) c.1228C>G (p.Leu410Val) c.1198C>G (p.Leu400Val) c.1006C>G (p.Leu336Val) c.1225C>G (p.Leu409Val) | |
11 | g.113399164C>T | CA382644483 | ANKK1 | c.1195C>T (p.Leu399Phe) c.1228C>T (p.Leu410Phe) c.1198C>T (p.Leu400Phe) c.1006C>T (p.Leu336Phe) c.1225C>T (p.Leu409Phe) | |
11 | g.113399165T>A | CA382644485 | ANKK1 | c.1196T>A (p.Leu399His) c.1229T>A (p.Leu410His) c.1199T>A (p.Leu400His) c.1007T>A (p.Leu336His) c.1226T>A (p.Leu409His) | |
11 | g.113399165T>C | CA382644486 | ANKK1 | c.1196T>C (p.Leu399Pro) c.1229T>C (p.Leu410Pro) c.1199T>C (p.Leu400Pro) c.1007T>C (p.Leu336Pro) c.1226T>C (p.Leu409Pro) | |
11 | g.113399165T>G | CA382644487 | ANKK1 | c.1196T>G (p.Leu399Arg) c.1229T>G (p.Leu410Arg) c.1199T>G (p.Leu400Arg) c.1007T>G (p.Leu336Arg) c.1226T>G (p.Leu409Arg) | |
11 | g.113399166C>A | CA477042684 | ANKK1 | c.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 |
11 | g.113399166C= | CA2001151731 | ANKK1 | c.1197C= (p.Leu399=) c.1230C= (p.Leu410=) c.1200C= (p.Leu400=) c.1008C= (p.Leu336=) c.1227C= (p.Leu409=) | |
11 | g.113399166C>G | CA477042686 | ANKK1 | c.1197C>G (p.Leu399=) c.1230C>G (p.Leu410=) c.1200C>G (p.Leu400=) c.1008C>G (p.Leu336=) c.1227C>G (p.Leu409=) | |
11 | g.113399166C>T | CA228614933 | ANKK1 | c.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 |
11 | g.113399167C>A | CA382644488 | ANKK1 | c.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 |
11 | g.113399167C>G | CA382644489 | ANKK1 | c.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 |
11 | g.113399167C>T | CA477042687 | ANKK1 | c.1198C>T (p.Leu400=) c.1231C>T (p.Leu411=) c.1201C>T (p.Leu401=) c.1009C>T (p.Leu337=) c.1228C>T (p.Leu410=) | |
11 | g.113399168T>A | CA382644490 | ANKK1 | c.1199T>A (p.Leu400Gln) c.1232T>A (p.Leu411Gln) c.1202T>A (p.Leu401Gln) c.1010T>A (p.Leu337Gln) c.1229T>A (p.Leu410Gln) | |
11 | g.113399168T>C | CA382644491 | ANKK1 | c.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 |
11 | g.113399168T>G | CA382644492 | ANKK1 | c.1199T>G (p.Leu400Arg) c.1232T>G (p.Leu411Arg) c.1202T>G (p.Leu401Arg) c.1010T>G (p.Leu337Arg) c.1229T>G (p.Leu410Arg) | |
11 | g.113399169G>A | CA477042691 | ANKK1 | c.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 |
11 | g.113399169G>C | CA477042694 | ANKK1 | c.1200G>C (p.Leu400=) c.1233G>C (p.Leu411=) c.1203G>C (p.Leu401=) c.1011G>C (p.Leu337=) c.1230G>C (p.Leu410=) | |
11 | g.113399169G= | CA2001151733 | ANKK1 | c.1200G= (p.Leu400=) c.1233G= (p.Leu411=) c.1203G= (p.Leu401=) c.1011G= (p.Leu337=) c.1230G= (p.Leu410=) | |
11 | g.113399169G>T | CA477042698 | ANKK1 | c.1200G>T (p.Leu400=) c.1233G>T (p.Leu411=) c.1203G>T (p.Leu401=) c.1011G>T (p.Leu337=) c.1230G>T (p.Leu410=) | |
11 | g.113399170A= | CA2001151735 | ANKK1 | c.1201A= (p.Ile401=) c.1234A= (p.Ile412=) c.1204A= (p.Ile402=) c.1012A= (p.Ile338=) c.1231A= (p.Ile411=) | |
11 | g.113399170A>C | CA382644493 | ANKK1 | c.1201A>C (p.Ile401Leu) c.1234A>C (p.Ile412Leu) c.1204A>C (p.Ile402Leu) c.1012A>C (p.Ile338Leu) c.1231A>C (p.Ile411Leu) | |
11 | g.113399170A>G | CA382644494 | ANKK1 | c.1201A>G (p.Ile401Val) c.1234A>G (p.Ile412Val) c.1204A>G (p.Ile402Val) c.1012A>G (p.Ile338Val) c.1231A>G (p.Ile411Val) | |
11 | g.113399170A>T | CA382644495 | ANKK1 | c.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 |
11 | g.113399171T>A | CA382644496 | ANKK1 | c.1202T>A (p.Ile401Asn) c.1235T>A (p.Ile412Asn) c.1205T>A (p.Ile402Asn) c.1013T>A (p.Ile338Asn) c.1232T>A (p.Ile411Asn) | |
11 | g.113399171T>C | CA382644497 | ANKK1 | c.1202T>C (p.Ile401Thr) c.1235T>C (p.Ile412Thr) c.1205T>C (p.Ile402Thr) c.1013T>C (p.Ile338Thr) c.1232T>C (p.Ile411Thr) | |
11 | g.113399171T>G | CA382644498 | ANKK1 | c.1202T>G (p.Ile401Ser) c.1235T>G (p.Ile412Ser) c.1205T>G (p.Ile402Ser) c.1013T>G (p.Ile338Ser) c.1232T>G (p.Ile411Ser) | |
11 | g.113399172C>A | CA477042702 | ANKK1 | c.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 |
11 | g.113399172C= | CA2001151739 | ANKK1 | c.1203C= (p.Ile401=) c.1236C= (p.Ile412=) c.1206C= (p.Ile402=) c.1014C= (p.Ile338=) c.1233C= (p.Ile411=) | |
11 | g.113399172C>G | CA382644499 | ANKK1 | c.1203C>G (p.Ile401Met) c.1236C>G (p.Ile412Met) c.1206C>G (p.Ile402Met) c.1014C>G (p.Ile338Met) c.1233C>G (p.Ile411Met) | |
11 | g.113399172C>T | CA477042706 | ANKK1 | c.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 |
11 | g.113399173G>A | CA6280892 | ANKK1 | c.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 |
11 | g.113399173G>C | CA382644500 | ANKK1 | c.1204G>C (p.Ala402Pro) c.1237G>C (p.Ala413Pro) c.1207G>C (p.Ala403Pro) c.1015G>C (p.Ala339Pro) c.1234G>C (p.Ala412Pro) | |
11 | g.113399173G= | CA2001151745 | ANKK1 | c.1204G= (p.Ala402=) c.1237G= (p.Ala413=) c.1207G= (p.Ala403=) c.1015G= (p.Ala339=) c.1234G= (p.Ala412=) | |
11 | g.113399173G>T | CA382644501 | ANKK1 | c.1204G>T (p.Ala402Ser) c.1237G>T (p.Ala413Ser) c.1207G>T (p.Ala403Ser) c.1015G>T (p.Ala339Ser) c.1234G>T (p.Ala412Ser) | |
11 | g.113399174C>A | CA382644502 | ANKK1 | c.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 |
11 | g.113399174C>G | CA382644503 | ANKK1 | c.1205C>G (p.Ala402Gly) c.1238C>G (p.Ala413Gly) c.1208C>G (p.Ala403Gly) c.1016C>G (p.Ala339Gly) c.1235C>G (p.Ala412Gly) | |
11 | g.113399174C>T | CA382644504 | ANKK1 | c.1205C>T (p.Ala402Val) c.1238C>T (p.Ala413Val) c.1208C>T (p.Ala403Val) c.1016C>T (p.Ala339Val) c.1235C>T (p.Ala412Val) | |
11 | g.113399175C>A | CA477042712 | ANKK1 | c.1206C>A (p.Ala402=) c.1239C>A (p.Ala413=) c.1209C>A (p.Ala403=) c.1017C>A (p.Ala339=) c.1236C>A (p.Ala412=) | |
11 | g.113399175C= | CA2001151753 | ANKK1 | c.1206C= (p.Ala402=) c.1239C= (p.Ala413=) c.1209C= (p.Ala403=) c.1017C= (p.Ala339=) c.1236C= (p.Ala412=) | |
11 | g.113399175C>G | CA477042714 | ANKK1 | c.1206C>G (p.Ala402=) c.1239C>G (p.Ala413=) c.1209C>G (p.Ala403=) c.1017C>G (p.Ala339=) c.1236C>G (p.Ala412=) | |
11 | g.113399175C>T | CA6280893 | ANKK1 | c.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 |
11 | g.113399176G>A | CA6280894 | ANKK1 | c.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 |
11 | g.113399176G>C | CA382644505 | ANKK1 | c.1207G>C (p.Ala403Pro) c.1240G>C (p.Ala414Pro) c.1210G>C (p.Ala404Pro) c.1018G>C (p.Ala340Pro) c.1237G>C (p.Ala413Pro) | |
11 | g.113399176G= | CA2001151757 | ANKK1 | c.1207G= (p.Ala403=) c.1240G= (p.Ala414=) c.1210G= (p.Ala404=) c.1018G= (p.Ala340=) c.1237G= (p.Ala413=) | |
11 | g.113399176G>T | CA382644506 | ANKK1 | c.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 |
11 | g.113399177C>A | CA382644507 | ANKK1 | c.1208C>A (p.Ala403Asp) c.1241C>A (p.Ala414Asp) c.1211C>A (p.Ala404Asp) c.1019C>A (p.Ala340Asp) c.1238C>A (p.Ala413Asp) | |
11 | g.113399177C= | CA2001151761 | ANKK1 | c.1208C= (p.Ala403=) c.1241C= (p.Ala414=) c.1211C= (p.Ala404=) c.1019C= (p.Ala340=) c.1238C= (p.Ala413=) | |
11 | g.113399177C>G | CA382644508 | ANKK1 | c.1208C>G (p.Ala403Gly) c.1241C>G (p.Ala414Gly) c.1211C>G (p.Ala404Gly) c.1019C>G (p.Ala340Gly) c.1238C>G (p.Ala413Gly) | |
11 | g.113399177C>T | CA382644509 | ANKK1 | c.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 |
11 | g.113399179del | CA2574982161 | ANKK1 | c.1210del (p.Gln404ArgfsTer?) c.1243del (p.Gln415ArgfsTer?) c.1213del (p.Gln405ArgfsTer?) c.1021del (p.Gln341ArgfsTer?) c.1240del (p.Gln414ArgfsTer?) | gnomAD v4 |
11 | g.113399178C>A | CA228614971 | ANKK1 | c.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 |
11 | g.113399178C= | CA2001151768 | ANKK1 | c.1209C= (p.Ala403=) c.1242C= (p.Ala414=) c.1212C= (p.Ala404=) c.1020C= (p.Ala340=) c.1239C= (p.Ala413=) | |
11 | g.113399178C>G | CA477042718 | ANKK1 | c.1209C>G (p.Ala403=) c.1242C>G (p.Ala414=) c.1212C>G (p.Ala404=) c.1020C>G (p.Ala340=) c.1239C>G (p.Ala413=) | |
11 | g.113399178C>T | CA477042717 | ANKK1 | c.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 |
11 | g.113399179C>A | CA6280895 | ANKK1 | c.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 |
11 | g.113399179C= | CA2001151772 | ANKK1 | c.1210C= (p.Gln404=) c.1243C= (p.Gln415=) c.1213C= (p.Gln405=) c.1021C= (p.Gln341=) c.1240C= (p.Gln414=) | |
11 | g.113399179C>G | CA382644511 | ANKK1 | c.1210C>G (p.Gln404Glu) c.1243C>G (p.Gln415Glu) c.1213C>G (p.Gln405Glu) c.1021C>G (p.Gln341Glu) c.1240C>G (p.Gln414Glu) | |
11 | g.113399179C>T | CA382644510 | ANKK1 | c.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 |
11 | g.113399180A>C | CA382644512 | ANKK1 | c.1211A>C (p.Gln404Pro) c.1244A>C (p.Gln415Pro) c.1214A>C (p.Gln405Pro) c.1022A>C (p.Gln341Pro) c.1241A>C (p.Gln414Pro) | |
11 | g.113399180A>G | CA382644514 | ANKK1 | c.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 |
11 | g.113399180A>T | CA382644513 | ANKK1 | c.1211A>T (p.Gln404Leu) c.1244A>T (p.Gln415Leu) c.1214A>T (p.Gln405Leu) c.1022A>T (p.Gln341Leu) c.1241A>T (p.Gln414Leu) | |
11 | g.113399181G>A | CA228614991 | ANKK1 | c.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 |
11 | g.113399181G>C | CA6280896 | ANKK1 | c.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 |
11 | g.113399181G= | CA2001151776 | ANKK1 | c.1212G= (p.Gln404=) c.1245G= (p.Gln415=) c.1215G= (p.Gln405=) c.1023G= (p.Gln341=) c.1242G= (p.Gln414=) | |
11 | g.113399181G>T | CA382644515 | ANKK1 | c.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 |
11 | g.113399182G>A | CA6280897 | ANKK1 | c.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 |
11 | g.113399182G>C | CA382644517 | ANKK1 | c.1213G>C (p.Asp405His) c.1246G>C (p.Asp416His) c.1216G>C (p.Asp406His) c.1024G>C (p.Asp342His) c.1243G>C (p.Asp415His) | |
11 | g.113399182G= | CA2001151778 | ANKK1 | c.1213G= (p.Asp405=) c.1246G= (p.Asp416=) c.1216G= (p.Asp406=) c.1024G= (p.Asp342=) c.1243G= (p.Asp415=) | |
11 | g.113399182G>T | CA382644516 | ANKK1 | c.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 |
11 | g.113399183A= | CA2001151782 | ANKK1 | c.1214A= (p.Asp405=) c.1247A= (p.Asp416=) c.1217A= (p.Asp406=) c.1025A= (p.Asp342=) c.1244A= (p.Asp415=) | |
11 | g.113399183A>C | CA382644519 | ANKK1 | c.1214A>C (p.Asp405Ala) c.1247A>C (p.Asp416Ala) c.1217A>C (p.Asp406Ala) c.1025A>C (p.Asp342Ala) c.1244A>C (p.Asp415Ala) | |
11 | g.113399183A>G | CA6280898 | ANKK1 | c.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 |
11 | g.113399183A>T | CA382644520 | ANKK1 | c.1214A>T (p.Asp405Val) c.1247A>T (p.Asp416Val) c.1217A>T (p.Asp406Val) c.1025A>T (p.Asp342Val) c.1244A>T (p.Asp415Val) | |
11 | g.113399184C>A | CA382644521 | ANKK1 | c.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 |
11 | g.113399184C= | CA2001151786 | ANKK1 | c.1215C= (p.Asp405=) c.1248C= (p.Asp416=) c.1218C= (p.Asp406=) c.1026C= (p.Asp342=) c.1245C= (p.Asp415=) | |
11 | g.113399184C>G | CA382644522 | ANKK1 | c.1215C>G (p.Asp405Glu) c.1248C>G (p.Asp416Glu) c.1218C>G (p.Asp406Glu) c.1026C>G (p.Asp342Glu) c.1245C>G (p.Asp415Glu) | |
11 | g.113399184C>T | CA6280899 | ANKK1 | c.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 |
11 | g.113399185C>A | CA382644523 | ANKK1 | c.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 |
11 | g.113399185C= | CA2001151789 | ANKK1 | c.1216C= (p.Gln406=) c.1249C= (p.Gln417=) c.1219C= (p.Gln407=) c.1027C= (p.Gln343=) c.1246C= (p.Gln416=) | |
11 | g.113399185C>G | CA6280900 | ANKK1 | c.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 |
11 | g.113399185C>T | CA382644524 | ANKK1 | c.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 |
11 | g.113399186A>C | CA382644525 | ANKK1 | c.1217A>C (p.Gln406Pro) c.1250A>C (p.Gln417Pro) c.1220A>C (p.Gln407Pro) c.1028A>C (p.Gln343Pro) c.1247A>C (p.Gln416Pro) | |
11 | g.113399186A>G | CA382644526 | ANKK1 | c.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 |
11 | g.113399186A>T | CA382644527 | ANKK1 | c.1217A>T (p.Gln406Leu) c.1250A>T (p.Gln417Leu) c.1220A>T (p.Gln407Leu) c.1028A>T (p.Gln343Leu) c.1247A>T (p.Gln416Leu) | |
11 | g.113399187G>A | CA477042733 | ANKK1 | c.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 |
11 | g.113399187G>C | CA382644529 | ANKK1 | c.1218G>C (p.Gln406His) c.1251G>C (p.Gln417His) c.1221G>C (p.Gln407His) c.1029G>C (p.Gln343His) c.1248G>C (p.Gln416His) | |
11 | g.113399187G= | CA2001151792 | ANKK1 | c.1218G= (p.Gln406=) c.1251G= (p.Gln417=) c.1221G= (p.Gln407=) c.1029G= (p.Gln343=) c.1248G= (p.Gln416=) | |
11 | g.113399187G>T | CA382644528 | ANKK1 | c.1218G>T (p.Gln406His) c.1251G>T (p.Gln417His) c.1221G>T (p.Gln407His) c.1029G>T (p.Gln343His) c.1248G>T (p.Gln416His) | |
11 | g.113399188C>A | CA382644530 | ANKK1 | c.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 |
11 | g.113399188C= | CA2001151795 | ANKK1 | c.1219C= (p.Gln407=) c.1252C= (p.Gln418=) c.1222C= (p.Gln408=) c.1030C= (p.Gln344=) c.1249C= (p.Gln417=) | |
11 | g.113399188C>G | CA228615019 | ANKK1 | c.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 |
11 | g.113399188C>T | CA382644531 | ANKK1 | c.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 |
11 | g.113399189A>C | CA382644532 | ANKK1 | c.1220A>C (p.Gln407Pro) c.1253A>C (p.Gln418Pro) c.1223A>C (p.Gln408Pro) c.1031A>C (p.Gln344Pro) c.1250A>C (p.Gln417Pro) | |
11 | g.113399189A>G | CA382644533 | ANKK1 | c.1220A>G (p.Gln407Arg) c.1253A>G (p.Gln418Arg) c.1223A>G (p.Gln408Arg) c.1031A>G (p.Gln344Arg) c.1250A>G (p.Gln417Arg) | |
11 | g.113399189A>T | CA382644534 | ANKK1 | c.1220A>T (p.Gln407Leu) c.1253A>T (p.Gln418Leu) c.1223A>T (p.Gln408Leu) c.1031A>T (p.Gln344Leu) c.1250A>T (p.Gln417Leu) | |
11 | g.113399190A>C | CA382644535 | ANKK1 | c.1221A>C (p.Gln407His) c.1254A>C (p.Gln418His) c.1224A>C (p.Gln408His) c.1032A>C (p.Gln344His) c.1251A>C (p.Gln417His) | |
11 | g.113399190A>G | CA477042738 | ANKK1 | c.1221A>G (p.Gln407=) c.1254A>G (p.Gln418=) c.1224A>G (p.Gln408=) c.1032A>G (p.Gln344=) c.1251A>G (p.Gln417=) | |
11 | g.113399190A>T | CA382644536 | ANKK1 | c.1221A>T (p.Gln407His) c.1254A>T (p.Gln418His) c.1224A>T (p.Gln408His) c.1032A>T (p.Gln344His) c.1251A>T (p.Gln417His) | |
11 | g.113399191C>A | CA382644537 | ANKK1 | c.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 |
11 | g.113399191C= | CA2001151800 | ANKK1 | c.1222C= (p.Pro408=) c.1255C= (p.Pro419=) c.1225C= (p.Pro409=) c.1033C= (p.Pro345=) c.1252C= (p.Pro418=) | |
11 | g.113399191C>G | CA382644538 | ANKK1 | c.1222C>G (p.Pro408Ala) c.1255C>G (p.Pro419Ala) c.1225C>G (p.Pro409Ala) c.1033C>G (p.Pro345Ala) c.1252C>G (p.Pro418Ala) | |
11 | g.113399191C>T | CA382644539 | ANKK1 | c.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 |
11 | g.113399192C>A | CA382644541 | ANKK1 | c.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 |
11 | g.113399192C= | CA2001151803 | ANKK1 | c.1223C= (p.Pro408=) c.1256C= (p.Pro419=) c.1226C= (p.Pro409=) c.1034C= (p.Pro345=) c.1253C= (p.Pro418=) | |
11 | g.113399192C>G | CA382644540 | ANKK1 | c.1223C>G (p.Pro408Arg) c.1256C>G (p.Pro419Arg) c.1226C>G (p.Pro409Arg) c.1034C>G (p.Pro345Arg) c.1253C>G (p.Pro418Arg) | |
11 | g.113399192C>T | CA228615020 | ANKK1 | c.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 |
11 | g.113399193C>A | CA477042745 | ANKK1 | c.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 |
11 | g.113399193C= | CA2001151808 | ANKK1 | c.1224C= (p.Pro408=) c.1257C= (p.Pro419=) c.1227C= (p.Pro409=) c.1035C= (p.Pro345=) c.1254C= (p.Pro418=) | |
11 | g.113399193C>G | CA228615026 | ANKK1 | c.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 |
11 | g.113399193C>T | CA6280901 | ANKK1 | c.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 |
11 | g.113399194G>A | CA6280902 | ANKK1 | c.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 |
11 | g.113399194G>C | CA382644542 | ANKK1 | c.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 |
11 | g.113399194G= | CA2001151811 | ANKK1 | c.1225G= (p.Asp409=) c.1258G= (p.Asp420=) c.1228G= (p.Asp410=) c.1036G= (p.Asp346=) c.1255G= (p.Asp419=) | |
11 | g.113399194G>T | CA382644543 | ANKK1 | c.1225G>T (p.Asp409Tyr) c.1258G>T (p.Asp420Tyr) c.1228G>T (p.Asp410Tyr) c.1036G>T (p.Asp346Tyr) c.1255G>T (p.Asp419Tyr) | |
11 | g.113399195A= | CA2001151813 | ANKK1 | c.1226A= (p.Asp409=) c.1259A= (p.Asp420=) c.1229A= (p.Asp410=) c.1037A= (p.Asp346=) c.1256A= (p.Asp419=) | |
11 | g.113399195A>C | CA382644544 | ANKK1 | c.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 |
11 | g.113399195A>G | CA382644545 | ANKK1 | c.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 |
11 | g.113399195A>T | CA382644546 | ANKK1 | c.1226A>T (p.Asp409Val) c.1259A>T (p.Asp420Val) c.1229A>T (p.Asp410Val) c.1037A>T (p.Asp346Val) c.1256A>T (p.Asp419Val) | |
11 | g.113399196C>A | CA382644547 | ANKK1 | c.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 |
11 | g.113399196C>G | CA382644548 | ANKK1 | c.1227C>G (p.Asp409Glu) c.1260C>G (p.Asp420Glu) c.1230C>G (p.Asp410Glu) c.1038C>G (p.Asp346Glu) c.1257C>G (p.Asp419Glu) | |
11 | g.113399196C>T | CA477042754 | ANKK1 | c.1227C>T (p.Asp409=) c.1260C>T (p.Asp420=) c.1230C>T (p.Asp410=) c.1038C>T (p.Asp346=) c.1257C>T (p.Asp419=) | |
11 | g.113399197C>A | CA382644550 | ANKK1 | c.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 |
11 | g.113399197C= | CA2001151821 | ANKK1 | c.1228C= (p.Leu410=) c.1261C= (p.Leu421=) c.1231C= (p.Leu411=) c.1039C= (p.Leu347=) c.1258C= (p.Leu420=) | |
11 | g.113399197C>G | CA382644551 | ANKK1 | c.1228C>G (p.Leu410Val) c.1261C>G (p.Leu421Val) c.1231C>G (p.Leu411Val) c.1039C>G (p.Leu347Val) c.1258C>G (p.Leu420Val) | |
11 | g.113399197C>T | CA6280903 | ANKK1 | c.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 |
11 | g.113399198T>A | CA6280904 | ANKK1 | c.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 |
11 | g.113399198T>C | CA382644552 | ANKK1 | c.1229T>C (p.Leu410Pro) c.1262T>C (p.Leu421Pro) c.1232T>C (p.Leu411Pro) c.1040T>C (p.Leu347Pro) c.1259T>C (p.Leu420Pro) | |
11 | g.113399198T>G | CA382644553 | ANKK1 | c.1229T>G (p.Leu410Arg) c.1262T>G (p.Leu421Arg) c.1232T>G (p.Leu411Arg) c.1040T>G (p.Leu347Arg) c.1259T>G (p.Leu420Arg) | |
11 | g.113399198T= | CA2001151824 | ANKK1 | c.1229T= (p.Leu410=) c.1262T= (p.Leu421=) c.1232T= (p.Leu411=) c.1040T= (p.Leu347=) c.1259T= (p.Leu420=) | |
11 | g.113399199C>A | CA477042761 | ANKK1 | c.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 |
11 | g.113399199C>G | CA477042762 | ANKK1 | c.1230C>G (p.Leu410=) c.1263C>G (p.Leu421=) c.1233C>G (p.Leu411=) c.1041C>G (p.Leu347=) c.1260C>G (p.Leu420=) | |
11 | g.113399199C>T | CA477042764 | ANKK1 | c.1230C>T (p.Leu410=) c.1263C>T (p.Leu421=) c.1233C>T (p.Leu411=) c.1041C>T (p.Leu347=) c.1260C>T (p.Leu420=) | |
11 | g.113399200T>A | CA382644554 | ANKK1 | c.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 |
11 | g.113399200T>C | CA382644555 | ANKK1 | c.1231T>C (p.Cys411Arg) c.1264T>C (p.Cys422Arg) c.1234T>C (p.Cys412Arg) c.1042T>C (p.Cys348Arg) c.1261T>C (p.Cys421Arg) | |
11 | g.113399200T>G | CA382644556 | ANKK1 | c.1231T>G (p.Cys411Gly) c.1264T>G (p.Cys422Gly) c.1234T>G (p.Cys412Gly) c.1042T>G (p.Cys348Gly) c.1261T>G (p.Cys421Gly) | |
11 | g.113399200T= | CA2001151827 | ANKK1 | c.1231T= (p.Cys411=) c.1264T= (p.Cys422=) c.1234T= (p.Cys412=) c.1042T= (p.Cys348=) c.1261T= (p.Cys421=) | |
11 | g.113399201G>A | CA6280905 | ANKK1 | c.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 |
11 | g.113399201G>C | CA382644557 | ANKK1 | c.1232G>C (p.Cys411Ser) c.1265G>C (p.Cys422Ser) c.1235G>C (p.Cys412Ser) c.1043G>C (p.Cys348Ser) c.1262G>C (p.Cys421Ser) | |
11 | g.113399201G= | CA2001151832 | ANKK1 | c.1232G= (p.Cys411=) c.1265G= (p.Cys422=) c.1235G= (p.Cys412=) c.1043G= (p.Cys348=) c.1262G= (p.Cys421=) | |
11 | g.113399201G>T | CA382644558 | ANKK1 | c.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 |
11 | g.113399202T>A | CA382644559 | ANKK1 | c.1233T>A (p.Cys411Ter) c.1266T>A (p.Cys422Ter) c.1236T>A (p.Cys412Ter) c.1044T>A (p.Cys348Ter) c.1263T>A (p.Cys421Ter) | |
11 | g.113399202T>C | CA477042769 | ANKK1 | c.1233T>C (p.Cys411=) c.1266T>C (p.Cys422=) c.1236T>C (p.Cys412=) c.1044T>C (p.Cys348=) c.1263T>C (p.Cys421=) | |
11 | g.113399202T>G | CA382644560 | ANKK1 | c.1233T>G (p.Cys411Trp) c.1266T>G (p.Cys422Trp) c.1236T>G (p.Cys412Trp) c.1044T>G (p.Cys348Trp) c.1263T>G (p.Cys421Trp) | |
11 | g.113399203G>A | CA382644561 | ANKK1 | c.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 |
11 | g.113399203G>C | CA382644562 | ANKK1 | c.1234G>C (p.Ala412Pro) c.1267G>C (p.Ala423Pro) c.1237G>C (p.Ala413Pro) c.1045G>C (p.Ala349Pro) c.1264G>C (p.Ala422Pro) | |
11 | g.113399203G>T | CA382644563 | ANKK1 | c.1234G>T (p.Ala412Ser) c.1267G>T (p.Ala423Ser) c.1237G>T (p.Ala413Ser) c.1045G>T (p.Ala349Ser) c.1264G>T (p.Ala422Ser) | |
11 | g.113399204C>A | CA382644566 | ANKK1 | c.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 |
11 | g.113399204C= | CA2001151837 | ANKK1 | c.1235C= (p.Ala412=) c.1268C= (p.Ala423=) c.1238C= (p.Ala413=) c.1046C= (p.Ala349=) c.1265C= (p.Ala422=) | |
11 | g.113399204C>G | CA382644565 | ANKK1 | c.1235C>G (p.Ala412Gly) c.1268C>G (p.Ala423Gly) c.1238C>G (p.Ala413Gly) c.1046C>G (p.Ala349Gly) c.1265C>G (p.Ala422Gly) | |
11 | g.113399204C>T | CA382644564 | ANKK1 | c.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 |
11 | g.113399206del | CA2616032680 | ANKK1 | c.1237del (p.Leu413CysfsTer?) c.1270del (p.Leu424CysfsTer?) c.1240del (p.Leu414CysfsTer?) c.1048del (p.Leu350CysfsTer?) c.1267del (p.Leu423CysfsTer?) | gnomAD v4 |
11 | g.113399205C>A | CA477042774 | ANKK1 | c.1236C>A (p.Ala412=) c.1269C>A (p.Ala423=) c.1239C>A (p.Ala413=) c.1047C>A (p.Ala349=) c.1266C>A (p.Ala422=) | |
11 | g.113399205C>G | CA477042776 | ANKK1 | c.1236C>G (p.Ala412=) c.1269C>G (p.Ala423=) c.1239C>G (p.Ala413=) c.1047C>G (p.Ala349=) c.1266C>G (p.Ala422=) | |
11 | g.113399205C>T | CA477042777 | ANKK1 | c.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 |
11 | g.113399206C>A | CA382644567 | ANKK1 | c.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 |
11 | g.113399206C>G | CA382644568 | ANKK1 | c.1237C>G (p.Leu413Val) c.1270C>G (p.Leu424Val) c.1240C>G (p.Leu414Val) c.1048C>G (p.Leu350Val) c.1267C>G (p.Leu423Val) | |
11 | g.113399206C>T | CA477042778 | ANKK1 | c.1237C>T (p.Leu413=) c.1270C>T (p.Leu424=) c.1240C>T (p.Leu414=) c.1048C>T (p.Leu350=) c.1267C>T (p.Leu423=) | |
11 | g.113399207T>A | CA382644569 | ANKK1 | c.1238T>A (p.Leu413Gln) c.1271T>A (p.Leu424Gln) c.1241T>A (p.Leu414Gln) c.1049T>A (p.Leu350Gln) c.1268T>A (p.Leu423Gln) | |
11 | g.113399207T>C | CA382644570 | ANKK1 | c.1238T>C (p.Leu413Pro) c.1271T>C (p.Leu424Pro) c.1241T>C (p.Leu414Pro) c.1049T>C (p.Leu350Pro) c.1268T>C (p.Leu423Pro) | |
11 | g.113399207T>G | CA382644571 | ANKK1 | c.1238T>G (p.Leu413Arg) c.1271T>G (p.Leu424Arg) c.1241T>G (p.Leu414Arg) c.1049T>G (p.Leu350Arg) c.1268T>G (p.Leu423Arg) | |
11 | g.113399208G>A | CA477042781 | ANKK1 | c.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 |
11 | g.113399208G>C | CA477042780 | ANKK1 | c.1239G>C (p.Leu413=) c.1272G>C (p.Leu424=) c.1242G>C (p.Leu414=) c.1050G>C (p.Leu350=) c.1269G>C (p.Leu423=) | |
11 | g.113399208G= | CA2001151840 | ANKK1 | c.1239G= (p.Leu413=) c.1272G= (p.Leu424=) c.1242G= (p.Leu414=) c.1050G= (p.Leu350=) c.1269G= (p.Leu423=) | |
11 | g.113399208G>T | CA477042779 | ANKK1 | c.1239G>T (p.Leu413=) c.1272G>T (p.Leu424=) c.1242G>T (p.Leu414=) c.1050G>T (p.Leu350=) c.1269G>T (p.Leu423=) | |
11 | g.113399209C>A | CA382644573 | ANKK1 | c.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 |
11 | g.113399209C>G | CA382644574 | ANKK1 | c.1240C>G (p.Leu414Val) c.1273C>G (p.Leu425Val) c.1243C>G (p.Leu415Val) c.1051C>G (p.Leu351Val) c.1270C>G (p.Leu424Val) | |
11 | g.113399209C>T | CA382644575 | ANKK1 | c.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 |
11 | g.113399209_113399210delinsCT | CA2001151843 | ANKK1 | c.1240_1241delinsCT (p.Leu414=) c.1273_1274delinsCT (p.Leu425=) c.1243_1244delinsCT (p.Leu415=) c.1051_1052delinsCT (p.Leu351=) c.1270_1271delinsCT (p.Leu424=) | |
11 | g.113399210T>A | CA382644576 | ANKK1 | c.1241T>A (p.Leu414His) c.1274T>A (p.Leu425His) c.1244T>A (p.Leu415His) c.1052T>A (p.Leu351His) c.1271T>A (p.Leu424His) | |
11 | g.113399210T>C | CA382644577 | ANKK1 | c.1241T>C (p.Leu414Pro) c.1274T>C (p.Leu425Pro) c.1244T>C (p.Leu415Pro) c.1052T>C (p.Leu351Pro) c.1271T>C (p.Leu424Pro) | |
11 | g.113399210T>G | CA382644578 | ANKK1 | c.1241T>G (p.Leu414Arg) c.1274T>G (p.Leu425Arg) c.1244T>G (p.Leu415Arg) c.1052T>G (p.Leu351Arg) c.1271T>G (p.Leu424Arg) | |
11 | g.113399213del | CA602135039 | ANKK1 | c.1244del (p.Leu415TrpfsTer?) c.1277del (p.Leu426TrpfsTer?) c.1247del (p.Leu416TrpfsTer?) c.1055del (p.Leu352TrpfsTer?) c.1274del (p.Leu425TrpfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.113399211T>A | CA477042787 | ANKK1 | c.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 |
11 | g.113399211T>C | CA477042788 | ANKK1 | c.1242T>C (p.Leu414=) c.1275T>C (p.Leu425=) c.1245T>C (p.Leu415=) c.1053T>C (p.Leu351=) c.1272T>C (p.Leu424=) | |
11 | g.113399211T>G | CA477042789 | ANKK1 | c.1242T>G (p.Leu414=) c.1275T>G (p.Leu425=) c.1245T>G (p.Leu415=) c.1053T>G (p.Leu351=) c.1272T>G (p.Leu424=) | |
11 | g.113399212T>A | CA382644579 | ANKK1 | c.1243T>A (p.Leu415Met) c.1276T>A (p.Leu426Met) c.1246T>A (p.Leu416Met) c.1054T>A (p.Leu352Met) c.1273T>A (p.Leu425Met) | |
11 | g.113399212T>C | CA477042790 | ANKK1 | c.1243T>C (p.Leu415=) c.1276T>C (p.Leu426=) c.1246T>C (p.Leu416=) c.1054T>C (p.Leu352=) c.1273T>C (p.Leu425=) | |
11 | g.113399212T>G | CA382644580 | ANKK1 | c.1243T>G (p.Leu415Val) c.1276T>G (p.Leu426Val) c.1246T>G (p.Leu416Val) c.1054T>G (p.Leu352Val) c.1273T>G (p.Leu425Val) | |
11 | g.113399213T>A | CA382644581 | ANKK1 | c.1244T>A (p.Leu415Ter) c.1277T>A (p.Leu426Ter) c.1247T>A (p.Leu416Ter) c.1055T>A (p.Leu352Ter) c.1274T>A (p.Leu425Ter) | |
11 | g.113399213T>C | CA382644582 | ANKK1 | c.1244T>C (p.Leu415Ser) c.1277T>C (p.Leu426Ser) c.1247T>C (p.Leu416Ser) c.1055T>C (p.Leu352Ser) c.1274T>C (p.Leu425Ser) | |
11 | g.113399213T>G | CA382644583 | ANKK1 | c.1244T>G (p.Leu415Trp) c.1277T>G (p.Leu426Trp) c.1247T>G (p.Leu416Trp) c.1055T>G (p.Leu352Trp) c.1274T>G (p.Leu425Trp) | |
11 | g.113399214G>A | CA477042793 | ANKK1 | c.1245G>A (p.Leu415=) c.1278G>A (p.Leu426=) c.1248G>A (p.Leu416=) c.1056G>A (p.Leu352=) c.1275G>A (p.Leu425=) | |
11 | g.113399214G>C | CA382644584 | ANKK1 | c.1245G>C (p.Leu415Phe) c.1278G>C (p.Leu426Phe) c.1248G>C (p.Leu416Phe) c.1056G>C (p.Leu352Phe) c.1275G>C (p.Leu425Phe) | |
11 | g.113399214G>T | CA382644585 | ANKK1 | c.1245G>T (p.Leu415Phe) c.1278G>T (p.Leu426Phe) c.1248G>T (p.Leu416Phe) c.1056G>T (p.Leu352Phe) c.1275G>T (p.Leu425Phe) | |
11 | g.113399215G>A | CA382644586 | ANKK1 | c.1246G>A (p.Ala416Thr) c.1279G>A (p.Ala427Thr) c.1249G>A (p.Ala417Thr) c.1057G>A (p.Ala353Thr) c.1276G>A (p.Ala426Thr) | gnomAD v4 |
11 | g.113399215G>C | CA382644587 | ANKK1 | c.1246G>C (p.Ala416Pro) c.1279G>C (p.Ala427Pro) c.1249G>C (p.Ala417Pro) c.1057G>C (p.Ala353Pro) c.1276G>C (p.Ala426Pro) | |
11 | g.113399215G>T | CA382644588 | ANKK1 | c.1246G>T (p.Ala416Ser) c.1279G>T (p.Ala427Ser) c.1249G>T (p.Ala417Ser) c.1057G>T (p.Ala353Ser) c.1276G>T (p.Ala426Ser) | |
11 | g.113399216C>A | CA382644589 | ANKK1 | c.1247C>A (p.Ala416Glu) c.1280C>A (p.Ala427Glu) c.1250C>A (p.Ala417Glu) c.1058C>A (p.Ala353Glu) c.1277C>A (p.Ala426Glu) | gnomAD v4 |
11 | g.113399216C>G | CA382644590 | ANKK1 | c.1247C>G (p.Ala416Gly) c.1280C>G (p.Ala427Gly) c.1250C>G (p.Ala417Gly) c.1058C>G (p.Ala353Gly) c.1277C>G (p.Ala426Gly) | |
11 | g.113399216C>T | CA382644591 | ANKK1 | c.1247C>T (p.Ala416Val) c.1280C>T (p.Ala427Val) c.1250C>T (p.Ala417Val) c.1058C>T (p.Ala353Val) c.1277C>T (p.Ala426Val) | gnomAD v4 |