NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)
|
rs1217401
|
0.42071
|
NM_001253852.3(AP4B1):c.618-13G>C
|
rs3789613
|
0.31448
|
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=)
|
rs17464525
|
0.16017
|
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=)
|
rs34751342
|
0.03013
|
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=)
|
rs114201291
|
0.01466
|
NM_001253852.3(AP4B1):c.1793-9C>G
|
rs17031980
|
0.00589
|
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=)
|
rs34249695
|
0.00525
|
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val)
|
rs145182838
|
0.00445
|
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)
|
rs114734921
|
0.00406
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile)
|
rs143286419
|
0.00130
|
NM_001253852.3(AP4B1):c.898G>T (p.Val300Leu)
|
rs111785152
|
0.00118
|
NM_001253852.3(AP4B1):c.339-15G>A
|
rs529490243
|
0.00056
|
NM_001253852.3(AP4B1):c.217T>A (p.Cys73Ser)
|
rs552888524
|
0.00053
|
NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu)
|
rs183034705
|
0.00051
|
NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=)
|
rs34778731
|
0.00051
|
NM_001253852.3(AP4B1):c.570A>G (p.Glu190=)
|
rs139775124
|
0.00050
|
NM_001253852.3(AP4B1):c.967T>A (p.Ser323Thr)
|
rs149335605
|
0.00049
|
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg)
|
rs201047107
|
0.00037
|
NM_001253852.3(AP4B1):c.912G>A (p.Leu304=)
|
rs146053295
|
0.00037
|
NM_001253852.3(AP4B1):c.389G>A (p.Arg130Gln)
|
rs147043117
|
0.00036
|
NM_001253852.3(AP4B1):c.2004C>T (p.Thr668=)
|
rs143354033
|
0.00031
|
NM_001253852.3(AP4B1):c.1244G>A (p.Cys415Tyr)
|
rs200590674
|
0.00028
|
NM_001253852.3(AP4B1):c.1843T>G (p.Ser615Ala)
|
rs148748734
|
0.00023
|
NM_001253852.3(AP4B1):c.968C>T (p.Ser323Leu)
|
rs142732858
|
0.00020
|
NM_001253852.3(AP4B1):c.373A>G (p.Ile125Val)
|
rs143769705
|
0.00014
|
NM_001253852.3(AP4B1):c.1042G>A (p.Val348Met)
|
rs150622512
|
0.00011
|
NM_001253852.3(AP4B1):c.1148T>C (p.Val383Ala)
|
rs757927686
|
0.00010
|
NM_001253852.3(AP4B1):c.1497G>T (p.Leu499Phe)
|
rs147573619
|
0.00009
|
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)
|
rs376478015
|
0.00009
|
NM_001253852.3(AP4B1):c.1865C>T (p.Pro622Leu)
|
rs767679115
|
0.00008
|
NM_001253852.3(AP4B1):c.1868A>G (p.Asn623Ser)
|
rs201876159
|
0.00008
|
NM_001253852.3(AP4B1):c.2200A>G (p.Ile734Val)
|
rs79050956
|
0.00008
|
NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp)
|
rs752781534
|
0.00007
|
NM_001253852.3(AP4B1):c.1302+11A>G
|
rs772397695
|
0.00006
|
NM_001253852.3(AP4B1):c.1591C>T (p.Arg531Trp)
|
rs745939325
|
0.00006
|
NM_001253852.3(AP4B1):c.617+17A>G
|
rs201080805
|
0.00006
|
NM_001253852.3(AP4B1):c.909C>A (p.Ile303=)
|
rs147184856
|
0.00006
|
NM_001253852.3(AP4B1):c.232C>T (p.Leu78=)
|
rs760117027
|
0.00005
|
NM_001253852.3(AP4B1):c.358T>A (p.Tyr120Asn)
|
rs138880168
|
0.00005
|
NM_001253852.3(AP4B1):c.1071G>A (p.Thr357=)
|
rs373289645
|
0.00004
|
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)
|
rs374894037
|
0.00004
|
NM_001253852.3(AP4B1):c.1178G>A (p.Arg393Gln)
|
rs753638648
|
0.00004
|
NM_001253852.3(AP4B1):c.1303-11T>C
|
rs368931895
|
0.00004
|
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)
|
rs529495094
|
0.00004
|
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys)
|
rs200276550
|
0.00004
|
NM_001253852.3(AP4B1):c.1559G>A (p.Arg520His)
|
rs763842373
|
0.00004
|
NM_001253852.3(AP4B1):c.172G>C (p.Ala58Pro)
|
rs754770476
|
0.00004
|
NM_001253852.3(AP4B1):c.1748G>A (p.Arg583His)
|
rs530540257
|
0.00004
|
NM_001253852.3(AP4B1):c.1859T>C (p.Leu620Pro)
|
rs569988158
|
0.00004
|
NM_001253852.3(AP4B1):c.1870C>T (p.Arg624Cys)
|
rs368828060
|
0.00004
|
NM_001253852.3(AP4B1):c.2151G>A (p.Thr717=)
|
rs145170032
|
0.00004
|
NM_001253852.3(AP4B1):c.247G>C (p.Ala83Pro)
|
rs149478319
|
0.00004
|
NM_001253852.3(AP4B1):c.267G>A (p.Thr89=)
|
rs779754710
|
0.00004
|
NM_001253852.3(AP4B1):c.470-20A>G
|
rs577971063
|
0.00004
|
NM_001253852.3(AP4B1):c.682C>T (p.Arg228Cys)
|
rs371514044
|
0.00004
|
NM_001253852.3(AP4B1):c.891T>C (p.Leu297=)
|
rs377589103
|
0.00004
|
NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)
|
rs763730264
|
0.00003
|
NM_001253852.3(AP4B1):c.1082C>T (p.Ala361Val)
|
rs143389123
|
0.00003
|
NM_001253852.3(AP4B1):c.114-9G>A
|
rs186195199
|
0.00003
|
NM_001253852.3(AP4B1):c.1217G>A (p.Arg406Gln)
|
rs145803736
|
0.00003
|
NM_001253852.3(AP4B1):c.1507A>G (p.Ile503Val)
|
rs1230787334
|
0.00003
|
NM_001253852.3(AP4B1):c.1643C>T (p.Pro548Leu)
|
rs149723440
|
0.00003
|
NM_001253852.3(AP4B1):c.175A>G (p.Thr59Ala)
|
rs151293980
|
0.00003
|
NM_001253852.3(AP4B1):c.2150C>T (p.Thr717Met)
|
rs199879996
|
0.00003
|
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter)
|
rs777248758
|
0.00003
|
NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp)
|
rs74361335
|
0.00003
|
NM_001253852.3(AP4B1):c.323G>A (p.Ser108Asn)
|
rs1157647320
|
0.00003
|
NM_001253852.3(AP4B1):c.388C>T (p.Arg130Trp)
|
rs550100552
|
0.00003
|
NM_001253852.3(AP4B1):c.787G>A (p.Ala263Thr)
|
rs760880631
|
0.00003
|
NM_001253852.3(AP4B1):c.1356T>C (p.Asn452=)
|
rs144215222
|
0.00002
|
NM_001253852.3(AP4B1):c.1460G>A (p.Arg487Gln)
|
rs375080258
|
0.00002
|
NM_001253852.3(AP4B1):c.1489C>T (p.Arg497Cys)
|
rs756404463
|
0.00002
|
NM_001253852.3(AP4B1):c.1535G>A (p.Arg512Gln)
|
rs754458814
|
0.00002
|
NM_001253852.3(AP4B1):c.159G>A (p.Met53Ile)
|
rs778624334
|
0.00002
|
NM_001253852.3(AP4B1):c.1642C>A (p.Pro548Thr)
|
rs866175993
|
0.00002
|
NM_001253852.3(AP4B1):c.1679T>G (p.Phe560Cys)
|
rs780654750
|
0.00002
|
NM_001253852.3(AP4B1):c.1687C>T (p.Leu563=)
|
rs752469657
|
0.00002
|
NM_001253852.3(AP4B1):c.2007C>T (p.Ile669=)
|
rs146869083
|
0.00002
|
NM_001253852.3(AP4B1):c.2030G>A (p.Arg677Gln)
|
rs752940030
|
0.00002
|
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)
|
rs149705131
|
0.00002
|
NM_001253852.3(AP4B1):c.670C>T (p.Arg224Cys)
|
rs138216814
|
0.00002
|
NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter)
|
rs746462207
|
0.00002
|
NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter)
|
rs138335735
|
0.00001
|
NM_001253852.3(AP4B1):c.1111A>G (p.Ile371Val)
|
rs797045242
|
0.00001
|
NM_001253852.3(AP4B1):c.1114+9C>T
|
rs1478207935
|
0.00001
|
NM_001253852.3(AP4B1):c.1115-2A>G
|
rs1210851910
|
0.00001
|
NM_001253852.3(AP4B1):c.114-2A>G
|
rs879255396
|
0.00001
|
NM_001253852.3(AP4B1):c.1144T>C (p.Cys382Arg)
|
rs781635999
|
0.00001
|
NM_001253852.3(AP4B1):c.1215C>T (p.Phe405=)
|
rs759899315
|
0.00001
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
NM_001253852.3(AP4B1):c.1273G>A (p.Gly425Ser)
|
rs777033290
|
0.00001
|
NM_001253852.3(AP4B1):c.1284G>A (p.Glu428=)
|
rs752215351
|
0.00001
|
NM_001253852.3(AP4B1):c.1526T>C (p.Met509Thr)
|
rs1043676103
|
0.00001
|
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)
|
rs767220480
|
0.00001
|
NM_001253852.3(AP4B1):c.1553A>G (p.Tyr518Cys)
|
rs1265334140
|
0.00001
|
NM_001253852.3(AP4B1):c.1697T>C (p.Val566Ala)
|
rs373733045
|
0.00001
|
NM_001253852.3(AP4B1):c.1744G>A (p.Glu582Lys)
|
rs779319072
|
0.00001
|
NM_001253852.3(AP4B1):c.1839T>G (p.Pro613=)
|
rs549517422
|
0.00001
|
NM_001253852.3(AP4B1):c.2066C>T (p.Thr689Ile)
|
rs768141876
|
0.00001
|
NM_001253852.3(AP4B1):c.211T>C (p.Tyr71His)
|
rs1186934233
|
0.00001
|
NM_001253852.3(AP4B1):c.2145A>T (p.Ala715=)
|
rs969793953
|
0.00001
|
NM_001253852.3(AP4B1):c.215T>C (p.Met72Thr)
|
rs566369623
|
0.00001
|
NM_001253852.3(AP4B1):c.222A>G (p.Thr74=)
|
rs1439180952
|
0.00001
|
NM_001253852.3(AP4B1):c.266C>T (p.Thr89Met)
|
rs1454940627
|
0.00001
|
NM_001253852.3(AP4B1):c.372T>C (p.Pro124=)
|
rs1668308067
|
0.00001
|
NM_001253852.3(AP4B1):c.506G>A (p.Arg169His)
|
rs144490934
|
0.00001
|
NM_001253852.3(AP4B1):c.594C>T (p.Pro198=)
|
rs766215887
|
0.00001
|
NM_001253852.3(AP4B1):c.616C>G (p.Arg206Gly)
|
rs762612591
|
0.00001
|
NM_001253852.3(AP4B1):c.617+16C>T
|
rs1046613270
|
0.00001
|
NM_001253852.3(AP4B1):c.618-16T>G
|
rs772575711
|
0.00001
|
NM_001253852.3(AP4B1):c.618-3T>C
|
rs755780191
|
0.00001
|
NM_001253852.3(AP4B1):c.671G>A (p.Arg224His)
|
rs968023503
|
0.00001
|
NM_001253852.3(AP4B1):c.749G>A (p.Gly250Asp)
|
rs778029639
|
0.00001
|
NM_001253852.3(AP4B1):c.804C>T (p.His268=)
|
rs762267301
|
0.00001
|
NM_001253852.3(AP4B1):c.924A>G (p.Pro308=)
|
rs1256078127
|
0.00001
|
NC_000001.11:g.(?_113895055)_(113900410_?)dup
|
|
|
NM_001253852.3(AP4B1):c.1023C>T (p.Asn341=)
|
|
|
NM_001253852.3(AP4B1):c.1030A>C (p.Asn344His)
|
|
|
NM_001253852.3(AP4B1):c.1066del (p.Cys356fs)
|
|
|
NM_001253852.3(AP4B1):c.1067G>T (p.Cys356Phe)
|
rs770948820
|
|
NM_001253852.3(AP4B1):c.1075G>A (p.Val359Met)
|
|
|
NM_001253852.3(AP4B1):c.1076T>G (p.Val359Gly)
|
rs1668009628
|
|
NM_001253852.3(AP4B1):c.1106_1114+8del
|
|
|
NM_001253852.3(AP4B1):c.1112_1113insGGAGC (p.Ile371fs)
|
|
|
NM_001253852.3(AP4B1):c.1114+14C>T
|
|
|
NM_001253852.3(AP4B1):c.1122_1123insTTGTAGGTGCCAGGACTTCTTTTGTAGGT (p.Ala375delinsLeuTer)
|
|
|
NM_001253852.3(AP4B1):c.114-10C>T
|
rs200301524
|
|
NM_001253852.3(AP4B1):c.114-13G>T
|
|
|
NM_001253852.3(AP4B1):c.114-14T>C
|
|
|
NM_001253852.3(AP4B1):c.114-2A>C
|
rs879255396
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001253852.3(AP4B1):c.1163A>C (p.Glu388Ala)
|
rs1667823558
|
|
NM_001253852.3(AP4B1):c.1177C>A (p.Arg393=)
|
|
|
NM_001253852.3(AP4B1):c.1181A>C (p.Gln394Pro)
|
|
|
NM_001253852.3(AP4B1):c.1181_1182del (p.Gln394fs)
|
rs2101015147
|
|
NM_001253852.3(AP4B1):c.1198+5T>C
|
rs1276393155
|
|
NM_001253852.3(AP4B1):c.1198+7C>A
|
|
|
NM_001253852.3(AP4B1):c.1199-13G>A
|
|
|
NM_001253852.3(AP4B1):c.1199-18C>T
|
|
|
NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter)
|
|
|
NM_001253852.3(AP4B1):c.1258T>C (p.Cys420Arg)
|
rs1227614224
|
|
NM_001253852.3(AP4B1):c.1272C>T (p.Pro424=)
|
rs759742089
|
|
NM_001253852.3(AP4B1):c.1294G>A (p.Asp432Asn)
|
rs1667689616
|
|
NM_001253852.3(AP4B1):c.1302+8G>A
|
rs2101008518
|
|
NM_001253852.3(AP4B1):c.1317dup (p.Ile440fs)
|
|
|
NM_001253852.3(AP4B1):c.1324_1331del (p.Leu442fs)
|
|
|
NM_001253852.3(AP4B1):c.1331G>A (p.Gly444Asp)
|
|
|
NM_001253852.3(AP4B1):c.1337A>G (p.His446Arg)
|
rs748049847
|
|
NM_001253852.3(AP4B1):c.1342G>A (p.Glu448Lys)
|
rs2100998541
|
|
NM_001253852.3(AP4B1):c.1357G>T (p.Ala453Ser)
|
rs2100998376
|
|
NM_001253852.3(AP4B1):c.1365T>A (p.Tyr455Ter)
|
rs114201291
|
|
NM_001253852.3(AP4B1):c.1444C>T (p.Arg482Cys)
|
|
|
NM_001253852.3(AP4B1):c.1459C>A (p.Arg487=)
|
|
|
NM_001253852.3(AP4B1):c.1459C>T (p.Arg487Ter)
|
rs771888480
|
|
NM_001253852.3(AP4B1):c.1463C>A (p.Pro488His)
|
|
|
NM_001253852.3(AP4B1):c.1466C>G (p.Ala489Gly)
|
rs1667457042
|
|
NM_001253852.3(AP4B1):c.1474C>G (p.Gln492Glu)
|
rs1054252163
|
|
NM_001253852.3(AP4B1):c.1490_1503del (p.Arg497fs)
|
rs1553257236
|
|
NM_001253852.3(AP4B1):c.1494G>C (p.Leu498Phe)
|
rs1440975141
|
|
NM_001253852.3(AP4B1):c.1499A>G (p.Tyr500Cys)
|
rs1667452008
|
|
NM_001253852.3(AP4B1):c.1510+12A>G
|
|
|
NM_001253852.3(AP4B1):c.1510+2T>C
|
rs1667449135
|
|
NM_001253852.3(AP4B1):c.1511-19A>G
|
|
|
NM_001253852.3(AP4B1):c.1544del (p.Gly515fs)
|
rs1667419336
|
|
NM_001253852.3(AP4B1):c.1560C>T (p.Arg520=)
|
|
|
NM_001253852.3(AP4B1):c.1576A>G (p.Ile526Val)
|
|
|
NM_001253852.3(AP4B1):c.1585G>A (p.Val529Ile)
|
|
|
NM_001253852.3(AP4B1):c.1588A>G (p.Lys530Glu)
|
|
|
NM_001253852.3(AP4B1):c.1596T>C (p.Ile532=)
|
rs2100995308
|
|
NM_001253852.3(AP4B1):c.1608T>A (p.Pro536=)
|
rs1558079074
|
|
NM_001253852.3(AP4B1):c.1612del (p.Ser538fs)
|
|
|
NM_001253852.3(AP4B1):c.1633T>C (p.Leu545=)
|
rs2100995025
|
|
NM_001253852.3(AP4B1):c.1644G>A (p.Pro548=)
|
|
|
NM_001253852.3(AP4B1):c.1660A>T (p.Asn554Tyr)
|
rs2100994814
|
|
NM_001253852.3(AP4B1):c.1696G>C (p.Val566Leu)
|
rs2100994599
|
|
NM_001253852.3(AP4B1):c.1703G>A (p.Gly568Asp)
|
rs759495705
|
|
NM_001253852.3(AP4B1):c.1708G>A (p.Ala570Thr)
|
|
|
NM_001253852.3(AP4B1):c.1724T>G (p.Ile575Ser)
|
|
|
NM_001253852.3(AP4B1):c.1739G>T (p.Gly580Val)
|
rs762174414
|
|
NM_001253852.3(AP4B1):c.1747C>T (p.Arg583Cys)
|
|
|
NM_001253852.3(AP4B1):c.176C>G (p.Thr59Ser)
|
|
|
NM_001253852.3(AP4B1):c.1786G>A (p.Ala596Thr)
|
|
|
NM_001253852.3(AP4B1):c.1792+11T>C
|
|
|
NM_001253852.3(AP4B1):c.1792+8C>T
|
|
|
NM_001253852.3(AP4B1):c.1819G>C (p.Glu607Gln)
|
rs1166699876
|
|
NM_001253852.3(AP4B1):c.1821G>A (p.Glu607=)
|
|
|
NM_001253852.3(AP4B1):c.182A>T (p.Asp61Val)
|
|
|
NM_001253852.3(AP4B1):c.183T>C (p.Asp61=)
|
|
|
NM_001253852.3(AP4B1):c.1863C>G (p.Val621=)
|
|
|
NM_001253852.3(AP4B1):c.1870C>G (p.Arg624Gly)
|
rs368828060
|
|
NM_001253852.3(AP4B1):c.1899A>G (p.Lys633=)
|
|
|
NM_001253852.3(AP4B1):c.1901C>G (p.Thr634Ser)
|
|
|
NM_001253852.3(AP4B1):c.1919T>G (p.Val640Gly)
|
|
|
NM_001253852.3(AP4B1):c.1922C>T (p.Ala641Val)
|
rs1667332064
|
|
NM_001253852.3(AP4B1):c.1926T>C (p.His642=)
|
rs1480000484
|
|
NM_001253852.3(AP4B1):c.1931A>G (p.Gln644Arg)
|
rs1667330271
|
|
NM_001253852.3(AP4B1):c.1939C>G (p.Pro647Ala)
|
|
|
NM_001253852.3(AP4B1):c.1962T>C (p.Pro654=)
|
rs1667327766
|
|
NM_001253852.3(AP4B1):c.1981C>A (p.Leu661Ile)
|
rs1667326839
|
|
NM_001253852.3(AP4B1):c.198G>C (p.Lys66Asn)
|
rs374241047
|
|
NM_001253852.3(AP4B1):c.199T>C (p.Leu67=)
|
|
|
NM_001253852.3(AP4B1):c.2020G>T (p.Ala674Ser)
|
rs769479430
|
|
NM_001253852.3(AP4B1):c.202G>A (p.Val68Ile)
|
|
|
NM_001253852.3(AP4B1):c.2040A>G (p.Lys680=)
|
|
|
NM_001253852.3(AP4B1):c.207T>C (p.Tyr69=)
|
|
|
NM_001253852.3(AP4B1):c.2082A>T (p.Leu694Phe)
|
rs1553256829
|
|
NM_001253852.3(AP4B1):c.2083A>C (p.Thr695Pro)
|
|
|
NM_001253852.3(AP4B1):c.2099A>T (p.Glu700Val)
|
rs768308955
|
|
NM_001253852.3(AP4B1):c.2123_2133del (p.Ile708fs)
|
|
|
NM_001253852.3(AP4B1):c.2131A>C (p.Lys711Gln)
|
|
|
NM_001253852.3(AP4B1):c.2162A>G (p.Asn721Ser)
|
|
|
NM_001253852.3(AP4B1):c.2179T>C (p.Leu727=)
|
|
|
NM_001253852.3(AP4B1):c.219C>A (p.Cys73Ter)
|
rs2101044378
|
|
NM_001253852.3(AP4B1):c.2211A>G (p.Ile737Met)
|
|
|
NM_001253852.3(AP4B1):c.229C>T (p.Pro77Ser)
|
|
|
NM_001253852.3(AP4B1):c.298A>G (p.Met100Val)
|
rs752682155
|
|
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs)
|
rs797045244
|
|
NM_001253852.3(AP4B1):c.313del (p.Ala105fs)
|
rs587783179
|
|
NM_001253852.3(AP4B1):c.320G>A (p.Arg107Gln)
|
|
|
NM_001253852.3(AP4B1):c.323G>T (p.Ser108Ile)
|
|
|
NM_001253852.3(AP4B1):c.336C>T (p.Leu112=)
|
rs1461336598
|
|
NM_001253852.3(AP4B1):c.337A>G (p.Arg113Gly)
|
rs1668423302
|
|
NM_001253852.3(AP4B1):c.338+19G>C
|
rs2101043152
|
|
NM_001253852.3(AP4B1):c.338+20_338+23del
|
rs537405509
|
|
NM_001253852.3(AP4B1):c.338+5G>A
|
rs1019204290
|
|
NM_001253852.3(AP4B1):c.339-16A>C
|
rs766923052
|
|
NM_001253852.3(AP4B1):c.339-7T>C
|
|
|
NM_001253852.3(AP4B1):c.352C>T (p.Gln118Ter)
|
rs1013939776
|
|
NM_001253852.3(AP4B1):c.388_389dup (p.Asp131fs)
|
|
|
NM_001253852.3(AP4B1):c.402A>T (p.Ser134=)
|
rs34751342
|
|
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer)
|
rs1553259463
|
|
NM_001253852.3(AP4B1):c.412A>G (p.Arg138Gly)
|
rs943287870
|
|
NM_001253852.3(AP4B1):c.426T>C (p.Leu142=)
|
|
|
NM_001253852.3(AP4B1):c.444dup (p.Asn149Ter)
|
|
|
NM_001253852.3(AP4B1):c.445A>T (p.Asn149Tyr)
|
|
|
NM_001253852.3(AP4B1):c.456A>C (p.Gly152=)
|
|
|
NM_001253852.3(AP4B1):c.469+17C>A
|
|
|
NM_001253852.3(AP4B1):c.470-14G>A
|
|
|
NM_001253852.3(AP4B1):c.470-6T>G
|
|
|
NM_001253852.3(AP4B1):c.480G>C (p.Leu160=)
|
|
|
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer)
|
rs2101035173
|
|
NM_001253852.3(AP4B1):c.505C>A (p.Arg169Ser)
|
rs753402898
|
|
NM_001253852.3(AP4B1):c.512A>G (p.Gln171Arg)
|
|
|
NM_001253852.3(AP4B1):c.521T>C (p.Ile174Thr)
|
|
|
NM_001253852.3(AP4B1):c.529_531del (p.Val177del)
|
|
|
NM_001253852.3(AP4B1):c.559C>A (p.Leu187Met)
|
|
|
NM_001253852.3(AP4B1):c.576_577delinsTA (p.Val193Ile)
|
rs1553259191
|
|
NM_001253852.3(AP4B1):c.579_581del (p.Val194del)
|
rs750563520
|
|
NM_001253852.3(AP4B1):c.587A>G (p.Asn196Ser)
|
rs1571569612
|
|
NM_001253852.3(AP4B1):c.602A>G (p.His201Arg)
|
|
|
NM_001253852.3(AP4B1):c.612A>G (p.Leu204=)
|
|
|
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter)
|
rs762612591
|
|
NM_001253852.3(AP4B1):c.617+8T>C
|
rs2101034096
|
|
NM_001253852.3(AP4B1):c.618-12T>C
|
|
|
NM_001253852.3(AP4B1):c.639G>T (p.Trp213Cys)
|
|
|
NM_001253852.3(AP4B1):c.654A>G (p.Val218=)
|
|
|
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)
|
rs1571563769
|
|
NM_001253852.3(AP4B1):c.678A>C (p.Gln226His)
|
|
|
NM_001253852.3(AP4B1):c.778C>A (p.Leu260Met)
|
|
|
NM_001253852.3(AP4B1):c.783C>A (p.Ile261=)
|
rs1352725563
|
|
NM_001253852.3(AP4B1):c.810A>G (p.Gln270=)
|
|
|
NM_001253852.3(AP4B1):c.820C>T (p.Leu274Phe)
|
|
|
NM_001253852.3(AP4B1):c.876_877del (p.Cys293fs)
|
|
|
NM_001253852.3(AP4B1):c.880T>C (p.Phe294Leu)
|
rs541013298
|
|
NM_001253852.3(AP4B1):c.901C>T (p.Arg301Cys)
|
|
|
NM_001253852.3(AP4B1):c.902G>A (p.Arg301His)
|
|
|
NM_001253852.3(AP4B1):c.926del (p.Gly309fs)
|
rs2101025777
|
|
NM_001253852.3(AP4B1):c.939C>T (p.Ser313=)
|
|
|
NM_001253852.3(AP4B1):c.952T>C (p.Phe318Leu)
|
|
|
NM_001253852.3(AP4B1):c.962C>T (p.Ser321Phe)
|
rs1280737712
|
|
NM_001253852.3(AP4B1):c.967del (p.Ser323fs)
|
rs745580319
|
|
NM_001253852.3(AP4B1):c.985A>T (p.Lys329Ter)
|
rs2101024933
|
|
NM_006594.5:c.667del
|
rs2101027843
|
|