ClinVar Miner

List of variants studied for obsolete AP4-related intellectual disability and spastic paraplegia by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 544
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.462+34G>A rs999885 0.46041
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_022836.4(DCLRE1B):c.181C>T (p.His61Tyr) rs11552449 0.15327
NM_004722.4(AP4M1):c.812G>A (p.Arg271His) rs41280968 0.07094
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=) rs34751342 0.03013
NM_004722.4(AP4M1):c.255-16C>T rs74961284 0.01949
NM_004722.4(AP4M1):c.1305C>T (p.Asn435=) rs4134932 0.01854
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=) rs114201291 0.01466
NM_004722.4(AP4M1):c.58+12C>T rs189367118 0.00997
NM_004722.4(AP4M1):c.228C>T (p.Pro76=) rs41280965 0.00663
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=) rs140843407 0.00656
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_004722.4(AP4M1):c.1344C>T (p.Ala448=) rs57403878 0.00425
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921 0.00406
NM_004722.4(AP4M1):c.525G>A (p.Leu175=) rs113020957 0.00178
NM_004722.4(AP4M1):c.861C>T (p.Ser287=) rs142325884 0.00168
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_004722.4(AP4M1):c.59-14C>G rs202164434 0.00086
NM_004722.4(AP4M1):c.975-16C>G rs202052188 0.00082
NM_004722.4(AP4M1):c.740G>C (p.Gly247Ala) rs145887263 0.00075
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp) rs138437966 0.00066
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.69A>G (p.Gln23=) rs117872964 0.00053
NM_004722.4(AP4M1):c.930G>A (p.Arg310=) rs141754568 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_004722.4(AP4M1):c.1079C>A (p.Ala360Asp) rs145979929 0.00047
NM_004722.4(AP4M1):c.544-6T>G rs372511561 0.00046
NM_004722.4(AP4M1):c.407C>T (p.Thr136Met) rs138131967 0.00043
NM_004722.4(AP4M1):c.777G>A (p.Val259=) rs144253083 0.00041
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_004722.4(AP4M1):c.960C>T (p.Asp320=) rs371162812 0.00029
NM_001253852.3(AP4B1):c.1244G>A (p.Cys415Tyr) rs200590674 0.00028
NM_004722.4(AP4M1):c.561T>G (p.Val187=) rs775529957 0.00026
NM_001253852.3(AP4B1):c.1843T>G (p.Ser615Ala) rs148748734 0.00023
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr) rs147738731 0.00023
NM_004722.4(AP4M1):c.380C>T (p.Thr127Met) rs147261925 0.00023
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln) rs139861201 0.00021
NM_004722.4(AP4M1):c.137C>T (p.Pro46Leu) rs141331558 0.00021
NM_001253852.3(AP4B1):c.968C>T (p.Ser323Leu) rs142732858 0.00020
NM_004722.4(AP4M1):c.295G>A (p.Glu99Lys) rs200347699 0.00020
NM_004722.4(AP4M1):c.1245G>A (p.Thr415=) rs142429364 0.00016
NM_001253852.3(AP4B1):c.373A>G (p.Ile125Val) rs143769705 0.00014
NM_004722.4(AP4M1):c.630G>A (p.Val210=) rs537780447 0.00014
NM_004722.4(AP4M1):c.975-14C>T rs370610939 0.00014
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.175A>G (p.Thr59Ala) rs151293980 0.00009
NM_004722.4(AP4M1):c.1128C>T (p.Gly376=) rs372787797 0.00009
NM_004722.4(AP4M1):c.1293C>T (p.Cys431=) rs151301464 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_004722.4(AP4M1):c.1341C>T (p.Asp447=) rs551239733 0.00008
NM_004722.4(AP4M1):c.243A>G (p.Glu81=) rs200156998 0.00008
NM_004722.4(AP4M1):c.771C>T (p.Ser257=) rs545459309 0.00008
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala) rs542768500 0.00008
NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp) rs752781534 0.00007
NM_004722.4(AP4M1):c.514C>T (p.Arg172Cys) rs141174349 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_004722.4(AP4M1):c.1050A>G (p.Pro350=) rs139116680 0.00006
NM_004722.4(AP4M1):c.1357A>G (p.Ile453Val) rs777592786 0.00006
NM_004722.4(AP4M1):c.847C>T (p.Arg283Trp) rs575096086 0.00006
NM_004722.4(AP4M1):c.84T>C (p.Asp28=) rs777732581 0.00006
NM_001253852.3(AP4B1):c.13G>A (p.Gly5Ser) rs370101262 0.00005
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_004722.4(AP4M1):c.1140G>A (p.Met380Ile) rs574878636 0.00005
NM_004722.4(AP4M1):c.93G>A (p.Glu31=) rs202143875 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.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_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_004722.4(AP4M1):c.1060G>C (p.Ala354Pro) rs201015648 0.00004
NM_004722.4(AP4M1):c.163C>T (p.His55Tyr) rs578114705 0.00004
NM_004722.4(AP4M1):c.289C>T (p.Leu97=) rs376025594 0.00004
NM_004722.4(AP4M1):c.679C>T (p.Arg227Cys) rs369201294 0.00004
NM_004722.4(AP4M1):c.786C>T (p.Asp262=) rs750687666 0.00004
NM_004722.4(AP4M1):c.92A>T (p.Glu31Val) rs140286559 0.00004
NM_004722.4(AP4M1):c.981C>T (p.Ala327=) rs563402705 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.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.49C>T (p.Leu17=) rs748774784 0.00003
NM_001253852.3(AP4B1):c.787G>A (p.Ala263Thr) rs760880631 0.00003
NM_004722.4(AP4M1):c.1294G>A (p.Gly432Ser) rs751435731 0.00003
NM_004722.4(AP4M1):c.12A>G (p.Gln4=) rs568292146 0.00003
NM_004722.4(AP4M1):c.1320dup (p.Arg441fs) rs1437455190 0.00003
NM_004722.4(AP4M1):c.136C>G (p.Pro46Ala) rs757747386 0.00003
NM_004722.4(AP4M1):c.351+9C>G rs745857202 0.00003
NM_004722.4(AP4M1):c.453C>T (p.Ser151=) rs1388187930 0.00003
NM_004722.4(AP4M1):c.496C>T (p.Pro166Ser) rs201290190 0.00003
NM_004722.4(AP4M1):c.607-12C>T rs1375819668 0.00003
NM_004722.4(AP4M1):c.637G>C (p.Glu213Gln) rs373833370 0.00003
NM_004722.4(AP4M1):c.673+7C>T rs753446678 0.00003
NM_004722.4(AP4M1):c.889C>T (p.Arg297Trp) rs199982051 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_004722.4(AP4M1):c.1026-20C>G rs371922404 0.00002
NM_004722.4(AP4M1):c.1318G>C (p.Val440Leu) rs775699151 0.00002
NM_004722.4(AP4M1):c.1346A>G (p.Tyr449Cys) rs754456635 0.00002
NM_004722.4(AP4M1):c.364G>A (p.Val122Ile) rs572732241 0.00002
NM_004722.4(AP4M1):c.390G>A (p.Leu130=) rs753736268 0.00002
NM_004722.4(AP4M1):c.408G>A (p.Thr136=) rs1267130075 0.00002
NM_004722.4(AP4M1):c.68A>G (p.Asp23Gly) rs767849761 0.00002
NM_004722.4(AP4M1):c.693G>A (p.Thr231=) rs758378130 0.00002
NM_004722.4(AP4M1):c.750C>T (p.Val250=) rs752745814 0.00002
NM_004722.4(AP4M1):c.803G>A (p.Arg268Gln) rs565296810 0.00002
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln) rs531148057 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.112A>G (p.Arg38Gly) rs773391519 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.52T>G (p.Cys18Gly) rs777755720 0.00001
NM_001253852.3(AP4B1):c.56A>G (p.Asn19Ser) rs758302124 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.749G>A (p.Gly250Asp) rs778029639 0.00001
NM_001253852.3(AP4B1):c.804C>T (p.His268=) rs762267301 0.00001
NM_001253852.3(AP4B1):c.91A>C (p.Asn31His) rs753932633 0.00001
NM_001253852.3(AP4B1):c.924A>G (p.Pro308=) rs1256078127 0.00001
NM_004722.4(AP4M1):c.1013G>A (p.Arg338Gln) rs536356225 0.00001
NM_004722.4(AP4M1):c.1025+19C>G rs756183556 0.00001
NM_004722.4(AP4M1):c.1074G>A (p.Glu358=) rs529291627 0.00001
NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter) rs777220438 0.00001
NM_004722.4(AP4M1):c.1120C>T (p.Leu374Phe) rs747834855 0.00001
NM_004722.4(AP4M1):c.1137+10G>C rs776964578 0.00001
NM_004722.4(AP4M1):c.1187C>T (p.Ser396Leu) rs772203028 0.00001
NM_004722.4(AP4M1):c.1190C>T (p.Ala397Val) rs573143488 0.00001
NM_004722.4(AP4M1):c.1228G>A (p.Glu410Lys) rs751442561 0.00001
NM_004722.4(AP4M1):c.129C>A (p.Asp43Glu) rs760835879 0.00001
NM_004722.4(AP4M1):c.1317G>A (p.Trp439Ter) rs772119268 0.00001
NM_004722.4(AP4M1):c.1339G>A (p.Asp447Asn) rs772970558 0.00001
NM_004722.4(AP4M1):c.1360T>C (p.Ter454Arg) rs1200528735 0.00001
NM_004722.4(AP4M1):c.155A>G (p.His52Arg) rs969442891 0.00001
NM_004722.4(AP4M1):c.175A>G (p.Ile59Val) rs748804549 0.00001
NM_004722.4(AP4M1):c.188G>C (p.Gly63Ala) rs1362214871 0.00001
NM_004722.4(AP4M1):c.273C>T (p.Gly91=) rs778849366 0.00001
NM_004722.4(AP4M1):c.299G>T (p.Gly100Val) rs772854398 0.00001
NM_004722.4(AP4M1):c.351+18C>T rs748478430 0.00001
NM_004722.4(AP4M1):c.352-12C>T rs1312514170 0.00001
NM_004722.4(AP4M1):c.3G>C (p.Met1Ile) rs968876829 0.00001
NM_004722.4(AP4M1):c.458G>A (p.Gly153Asp) rs797045250 0.00001
NM_004722.4(AP4M1):c.463-2A>T rs750783717 0.00001
NM_004722.4(AP4M1):c.513C>G (p.Ser171Arg) rs374978880 0.00001
NM_004722.4(AP4M1):c.515G>A (p.Arg172His) rs746585330 0.00001
NM_004722.4(AP4M1):c.543+11G>C rs200561621 0.00001
NM_004722.4(AP4M1):c.543+11_543+14dup rs764092006 0.00001
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys) rs387906838 0.00001
NM_004722.4(AP4M1):c.606+20C>T rs1796284845 0.00001
NM_004722.4(AP4M1):c.607-2A>G rs755533568 0.00001
NM_004722.4(AP4M1):c.611C>T (p.Ser204Phe) rs200722903 0.00001
NM_004722.4(AP4M1):c.643C>T (p.Arg215Trp) rs146445385 0.00001
NM_004722.4(AP4M1):c.673+6G>A rs201427711 0.00001
NM_004722.4(AP4M1):c.674-5G>A rs576875998 0.00001
NM_004722.4(AP4M1):c.746G>A (p.Arg249Gln) rs368830741 0.00001
NM_004722.4(AP4M1):c.811C>T (p.Arg271Cys) rs781616312 0.00001
NM_004722.4(AP4M1):c.860C>T (p.Ser287Phe) rs774646136 0.00001
NM_004722.4(AP4M1):c.862G>C (p.Asp288His) rs767611212 0.00001
NM_004722.4(AP4M1):c.867C>T (p.Asp289=) rs756660680 0.00001
NM_004722.4(AP4M1):c.890G>A (p.Arg297Gln) rs768778642 0.00001
NM_004722.4(AP4M1):c.90C>G (p.Ala30=) rs1418445713 0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
NM_004722.4(AP4M1):c.974+16G>A rs777424471 0.00001
NM_004722.4(AP4M1):c.988G>C (p.Val330Leu) rs1279854067 0.00001
NC_000001.10:g.(?_112318699)_(115576848_?)del
NC_000001.11:g.(?_113895055)_(113900410_?)dup
NM_001253852.3(AP4B1):c.1023C>T (p.Asn341=)
NM_001253852.3(AP4B1):c.1067G>T (p.Cys356Phe) rs770948820
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.113+10A>G
NM_001253852.3(AP4B1):c.113+10A>T
NM_001253852.3(AP4B1):c.113+13T>G
NM_001253852.3(AP4B1):c.113+20G>T
NM_001253852.3(AP4B1):c.113G>C (p.Arg38Thr)
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.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.1324_1331del (p.Leu442fs)
NM_001253852.3(AP4B1):c.1331G>A (p.Gly444Asp)
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.1444C>T (p.Arg482Cys)
NM_001253852.3(AP4B1):c.1459C>A (p.Arg487=)
NM_001253852.3(AP4B1):c.1463C>A (p.Pro488His)
NM_001253852.3(AP4B1):c.1474C>G (p.Gln492Glu) rs1054252163
NM_001253852.3(AP4B1):c.1510+12A>G
NM_001253852.3(AP4B1):c.1511-19A>G
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.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.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.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.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.2162A>G (p.Asn721Ser)
NM_001253852.3(AP4B1):c.2179T>C (p.Leu727=)
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.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.3G>C (p.Met1Ile) rs2101057747
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.41A>G (p.Lys14Arg)
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.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.52_53del (p.Cys18fs)
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.678A>C (p.Gln226His)
NM_001253852.3(AP4B1):c.67C>A (p.Gln23Lys) rs752491831
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.87C>T (p.Tyr29=)
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.985A>T (p.Lys329Ter) rs2101024933
NM_004722.4(AP4M1):c.1002C>G (p.Leu334=) rs140843407
NM_004722.4(AP4M1):c.1015G>A (p.Gly339Arg)
NM_004722.4(AP4M1):c.1025+18C>G
NM_004722.4(AP4M1):c.1025+20A>G
NM_004722.4(AP4M1):c.1025+6T>G
NM_004722.4(AP4M1):c.1026-10C>G rs746394766
NM_004722.4(AP4M1):c.1047C>T (p.Ser349=)
NM_004722.4(AP4M1):c.1058A>G (p.Lys353Arg)
NM_004722.4(AP4M1):c.1075G>A (p.Gly359Arg)
NM_004722.4(AP4M1):c.1084C>T (p.Arg362Cys)
NM_004722.4(AP4M1):c.1085G>A (p.Arg362His)
NM_004722.4(AP4M1):c.1137+16C>T rs1035762525
NM_004722.4(AP4M1):c.1137+6C>T
NM_004722.4(AP4M1):c.1138-17G>T
NM_004722.4(AP4M1):c.1138-8C>G rs773499417
NM_004722.4(AP4M1):c.113C>T (p.Thr38Met)
NM_004722.4(AP4M1):c.1143C>T (p.Asp381=)
NM_004722.4(AP4M1):c.1167C>T (p.Pro389=)
NM_004722.4(AP4M1):c.1174G>T (p.Gly392Trp)
NM_004722.4(AP4M1):c.1176G>A (p.Gly392=)
NM_004722.4(AP4M1):c.1183_1196del (p.Thr395fs)
NM_004722.4(AP4M1):c.1188G>A (p.Ser396=)
NM_004722.4(AP4M1):c.1195C>T (p.Pro399Ser) rs773269627
NM_004722.4(AP4M1):c.1203G>A (p.Gly401=)
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu) rs760907496
NM_004722.4(AP4M1):c.1227C>T (p.Phe409=)
NM_004722.4(AP4M1):c.1237C>G (p.Arg413Gly) rs778562405
NM_004722.4(AP4M1):c.1237C>T (p.Arg413Trp)
NM_004722.4(AP4M1):c.1238G>A (p.Arg413Gln) rs757999633
NM_004722.4(AP4M1):c.1238G>T (p.Arg413Leu) rs757999633
NM_004722.4(AP4M1):c.1242C>A (p.His414Gln)
NM_004722.4(AP4M1):c.1259A>T (p.Gln420Leu)
NM_004722.4(AP4M1):c.1265G>A (p.Arg422Gln) rs150135687
NM_004722.4(AP4M1):c.1284C>A (p.Phe428Leu) rs1443950530
NM_004722.4(AP4M1):c.1287G>A (p.Arg429=)
NM_004722.4(AP4M1):c.12A>T (p.Gln4His)
NM_004722.4(AP4M1):c.1308C>T (p.Pro436=)
NM_004722.4(AP4M1):c.1311C>G (p.His437Gln)
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_004722.4(AP4M1):c.1322G>A (p.Arg441Gln)
NM_004722.4(AP4M1):c.1336A>G (p.Ser446Gly)
NM_004722.4(AP4M1):c.1338C>T (p.Ser446=)
NM_004722.4(AP4M1):c.1350C>T (p.Val450=)
NM_004722.4(AP4M1):c.1354C>T (p.Arg452Trp)
NM_004722.4(AP4M1):c.1355G>A (p.Arg452Gln)
NM_004722.4(AP4M1):c.147+10G>A rs1584505112
NM_004722.4(AP4M1):c.147+12C>T
NM_004722.4(AP4M1):c.148-10T>C
NM_004722.4(AP4M1):c.148-11C>T
NM_004722.4(AP4M1):c.148-18T>C
NM_004722.4(AP4M1):c.161G>A (p.Arg54His)
NM_004722.4(AP4M1):c.169A>G (p.Ile57Val)
NM_004722.4(AP4M1):c.173A>G (p.His58Arg)
NM_004722.4(AP4M1):c.192C>G (p.Leu64=)
NM_004722.4(AP4M1):c.218dup (p.Asn73fs) rs1321353475
NM_004722.4(AP4M1):c.219C>T (p.Asn73=)
NM_004722.4(AP4M1):c.220G>A (p.Val74Ile) rs377178447
NM_004722.4(AP4M1):c.226C>T (p.Pro76Ser) rs1796159168
NM_004722.4(AP4M1):c.238C>T (p.Leu80=)
NM_004722.4(AP4M1):c.244C>G (p.Leu82Val)
NM_004722.4(AP4M1):c.254+14G>A
NM_004722.4(AP4M1):c.254+15del
NM_004722.4(AP4M1):c.254+20G>A
NM_004722.4(AP4M1):c.255-10G>A
NM_004722.4(AP4M1):c.255-12G>A
NM_004722.4(AP4M1):c.255-12G>C
NM_004722.4(AP4M1):c.289C>G (p.Leu97Val)
NM_004722.4(AP4M1):c.294C>T (p.Gly98=)
NM_004722.4(AP4M1):c.30C>T (p.Ser10=) rs539589967
NM_004722.4(AP4M1):c.310C>T (p.Arg104Cys)
NM_004722.4(AP4M1):c.32del (p.Lys11fs) rs797045249
NM_004722.4(AP4M1):c.331G>A (p.Glu111Lys)
NM_004722.4(AP4M1):c.331G>C (p.Glu111Gln)
NM_004722.4(AP4M1):c.336_338del (p.Leu113del) rs2116630200
NM_004722.4(AP4M1):c.342T>G (p.Asp114Glu)
NM_004722.4(AP4M1):c.351+17C>T
NM_004722.4(AP4M1):c.351+19C>T
NM_004722.4(AP4M1):c.351+19del
NM_004722.4(AP4M1):c.352-18_352-17dup
NM_004722.4(AP4M1):c.360C>T (p.Gly120=) rs778147767
NM_004722.4(AP4M1):c.376T>C (p.Ser126Pro) rs2116635737
NM_004722.4(AP4M1):c.381G>A (p.Thr127=)
NM_004722.4(AP4M1):c.403C>T (p.Gln135Ter)
NM_004722.4(AP4M1):c.452G>A (p.Ser151Asn) rs1028824532
NM_004722.4(AP4M1):c.454G>A (p.Val152Ile)
NM_004722.4(AP4M1):c.45C>G (p.Leu15=)
NM_004722.4(AP4M1):c.45C>T (p.Leu15=)
NM_004722.4(AP4M1):c.462+15A>G
NM_004722.4(AP4M1):c.462+20_462+22del
NM_004722.4(AP4M1):c.471T>C (p.Ala157=)
NM_004722.4(AP4M1):c.519C>T (p.Pro173=) rs551112932
NM_004722.4(AP4M1):c.528C>T (p.Ser176=)
NM_004722.4(AP4M1):c.52_58+6del rs1350685858
NM_004722.4(AP4M1):c.544-11C>T
NM_004722.4(AP4M1):c.544-13C>T rs2116643223
NM_004722.4(AP4M1):c.544-16TC[3] rs751511522
NM_004722.4(AP4M1):c.544-7_544-6del
NM_004722.4(AP4M1):c.555_556del (p.Asn185fs) rs2116643498
NM_004722.4(AP4M1):c.55G>A (p.Asp19Asn) rs1219582721
NM_004722.4(AP4M1):c.576C>G (p.Val192=)
NM_004722.4(AP4M1):c.576C>T (p.Val192=) rs776742429
NM_004722.4(AP4M1):c.58+14T>C
NM_004722.4(AP4M1):c.58+1_58+2del rs1796054104
NM_004722.4(AP4M1):c.58+2T>G rs1554377262
NM_004722.4(AP4M1):c.59-11C>T rs774846906
NM_004722.4(AP4M1):c.59-14C>T
NM_004722.4(AP4M1):c.59-16T>C
NM_004722.4(AP4M1):c.59-17G>A
NM_004722.4(AP4M1):c.591A>G (p.Val197=)
NM_004722.4(AP4M1):c.600A>G (p.Ala200=)
NM_004722.4(AP4M1):c.606+18A>C
NM_004722.4(AP4M1):c.607-13C>T
NM_004722.4(AP4M1):c.607-2_607-1del
NM_004722.4(AP4M1):c.607-5C>T
NM_004722.4(AP4M1):c.622G>A (p.Val208Met)
NM_004722.4(AP4M1):c.63_64del (p.Asp23fs)
NM_004722.4(AP4M1):c.666C>T (p.Ser222=)
NM_004722.4(AP4M1):c.673+11T>C
NM_004722.4(AP4M1):c.673+18A>G
NM_004722.4(AP4M1):c.674-19A>T rs1010643109
NM_004722.4(AP4M1):c.674-19_674-17del
NM_004722.4(AP4M1):c.674-6C>T
NM_004722.4(AP4M1):c.674-8_674-6del rs2116650324
NM_004722.4(AP4M1):c.697G>T (p.Glu233Ter)
NM_004722.4(AP4M1):c.706G>T (p.Val236Leu)
NM_004722.4(AP4M1):c.707T>C (p.Val236Ala)
NM_004722.4(AP4M1):c.728-12C>T
NM_004722.4(AP4M1):c.728-17T>C
NM_004722.4(AP4M1):c.728-21TC[5] rs748639289
NM_004722.4(AP4M1):c.728-21TC[6]
NM_004722.4(AP4M1):c.729T>G (p.Gly243=)
NM_004722.4(AP4M1):c.741A>C (p.Gly247=) rs1051745199
NM_004722.4(AP4M1):c.750C>A (p.Val250=)
NM_004722.4(AP4M1):c.751G>A (p.Asp251Asn)
NM_004722.4(AP4M1):c.776_777del (p.Val259fs) rs1397027035
NM_004722.4(AP4M1):c.781C>G (p.Leu261Val)
NM_004722.4(AP4M1):c.797C>G (p.Ser266Cys) rs2116654283
NM_004722.4(AP4M1):c.807C>T (p.Ile269=) rs755494077
NM_004722.4(AP4M1):c.834+8T>C
NM_004722.4(AP4M1):c.839C>T (p.Thr280Ile)
NM_004722.4(AP4M1):c.842_843del (p.Val281fs) rs776788025
NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser) rs1554380391
NM_004722.4(AP4M1):c.85G>A (p.Val29Met)
NM_004722.4(AP4M1):c.861dup (p.Asp288fs)
NM_004722.4(AP4M1):c.864T>C (p.Asp288=)
NM_004722.4(AP4M1):c.866A>G (p.Asp289Gly) rs1584516454
NM_004722.4(AP4M1):c.872C>A (p.Pro291His)
NM_004722.4(AP4M1):c.878C>T (p.Pro293Leu) rs757649099
NM_004722.4(AP4M1):c.891G>C (p.Arg297=)
NM_004722.4(AP4M1):c.923C>G (p.Ser308Ter) rs1131691556
NM_004722.4(AP4M1):c.923C>T (p.Ser308Leu) rs1131691556
NM_004722.4(AP4M1):c.929+10T>C rs758175403
NM_004722.4(AP4M1):c.929+5G>A rs1293317548
NM_004722.4(AP4M1):c.930-1G>C
NM_004722.4(AP4M1):c.930-4C>G
NM_004722.4(AP4M1):c.930-6A>C
NM_004722.4(AP4M1):c.961C>T (p.Leu321=)
NM_004722.4(AP4M1):c.975-13G>A
NM_004722.4(AP4M1):c.975-13G>T rs778720143
NM_004722.4(AP4M1):c.975-14C>A rs370610939
NM_004722.4(AP4M1):c.975-16C>T
NM_004722.4(AP4M1):c.975-8C>T
NM_004722.4(AP4M1):c.975-9C>T
NM_004722.4(AP4M1):c.984C>A (p.Leu328=)
NM_004722.4(AP4M1):c.984C>G (p.Leu328=)
NM_004722.4(AP4M1):c.990C>G (p.Val330=) rs371813095
NM_004722.4(AP4M1):c.994C>G (p.Leu332Val) rs2116668165
NM_004722.4(AP4M1):c.9C>A (p.Ser3=)

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