ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 50

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ClinVar version:
Total variants: 335
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.544-75T>C rs4729577 0.57574
NM_004722.4(AP4M1):c.147+35T>C rs2293481 0.57556
NM_004722.4(AP4M1):c.462+34G>A rs999885 0.46041
NM_004722.4(AP4M1):c.1025+44T>C rs2293479 0.26357
NM_004722.4(AP4M1):c.812G>A (p.Arg271His) rs41280968 0.07094
NM_004722.4(AP4M1):c.255-16C>T rs74961284 0.01949
NM_004722.4(AP4M1):c.1305C>T (p.Asn435=) rs4134932 0.01854
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_004722.4(AP4M1):c.1344C>T (p.Ala448=) rs57403878 0.00425
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_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_004722.4(AP4M1):c.930G>A (p.Arg310=) rs141754568 0.00053
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_004722.4(AP4M1):c.960C>T (p.Asp320=) rs371162812 0.00029
NM_004722.4(AP4M1):c.561T>G (p.Val187=) rs775529957 0.00026
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_004722.4(AP4M1):c.295G>A (p.Glu99Lys) rs200347699 0.00020
NM_004722.4(AP4M1):c.1245G>A (p.Thr415=) rs142429364 0.00016
NM_004722.4(AP4M1):c.630G>A (p.Val210=) rs537780447 0.00014
NM_004722.4(AP4M1):c.975-14C>T rs370610939 0.00014
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_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_004722.4(AP4M1):c.514C>T (p.Arg172Cys) rs141174349 0.00007
NM_004722.4(AP4M1):c.1050A>G (p.Pro350=) rs139116680 0.00006
NM_004722.4(AP4M1):c.1137+7G>A rs759354272 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_004722.4(AP4M1):c.1140G>A (p.Met380Ile) rs574878636 0.00005
NM_004722.4(AP4M1):c.93G>A (p.Glu31=) rs202143875 0.00005
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.496C>T (p.Pro166Ser) rs201290190 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.916C>T (p.Arg306Ter) rs369459721 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_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.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_004722.4(AP4M1):c.1026-20C>G rs371922404 0.00002
NM_004722.4(AP4M1):c.1257C>T (p.Leu419=) rs772168477 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_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.1044C>T (p.Ser348=) rs746663793 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.1117C>T (p.Gln373Ter) rs1562912305 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.1137+1G>T rs770705832 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.142del (p.Val48fs) rs764326593 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.189C>T (p.Gly63=) rs367614875 0.00001
NM_004722.4(AP4M1):c.26C>T (p.Ser9Phe) rs751068724 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.753T>C (p.Asp251=) rs962896326 0.00001
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter) rs780030221 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_000007.13:g.(?_99699407)_(99704283_?)del
NC_000007.13:g.(?_99703861)_(99704170_?)del
NM_000039.3(APOA1):c.43+1G>T rs2134233729
NM_004722.4(AP4M1):c.1002C>G (p.Leu334=) rs140843407
NM_004722.4(AP4M1):c.1012del (p.Arg338fs) rs2116668499
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.105del (p.Lys36fs)
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.1099C>T (p.Arg367Trp)
NM_004722.4(AP4M1):c.1137+16C>T rs1035762525
NM_004722.4(AP4M1):c.1137+6C>T
NM_004722.4(AP4M1):c.1138-15C>T
NM_004722.4(AP4M1):c.1138-17G>T
NM_004722.4(AP4M1):c.1138-1G>A
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.1160G>A (p.Gly387Glu)
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.1226T>C (p.Phe409Ser)
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.147+16_147+22dup
NM_004722.4(AP4M1):c.147+18dup
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.196T>C (p.Leu66=)
NM_004722.4(AP4M1):c.203del (p.Val68fs) rs1584507780
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+17T>C
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.336C>T (p.Leu112=)
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.362A>G (p.Tyr121Cys)
NM_004722.4(AP4M1):c.376T>C (p.Ser126Pro) rs2116635737
NM_004722.4(AP4M1):c.381G>A (p.Thr127=)
NM_004722.4(AP4M1):c.393G>A (p.Arg131=)
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.463-15T>C
NM_004722.4(AP4M1):c.471T>C (p.Ala157=)
NM_004722.4(AP4M1):c.476C>T (p.Thr159Ile)
NM_004722.4(AP4M1):c.498del (p.Ser167fs) rs766513025
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.547C>T (p.Gln183Ter) rs1796279189
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.566T>G (p.Leu189Trp) rs2116643609
NM_004722.4(AP4M1):c.568del (p.Asp190fs)
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.585G>A (p.Leu195=)
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.616C>T (p.Leu206=)
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.728-8C>T
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.809T>C (p.Leu270Pro)
NM_004722.4(AP4M1):c.819A>G (p.Gln273=)
NM_004722.4(AP4M1):c.834+8T>C
NM_004722.4(AP4M1):c.839C>T (p.Thr280Ile)
NM_004722.4(AP4M1):c.840T>G (p.Thr280=)
NM_004722.4(AP4M1):c.842_843del (p.Val281fs) rs776788025
NM_004722.4(AP4M1):c.843G>A (p.Val281=)
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.930-11C>T
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.952C>T (p.Arg318Ter) rs730882249
NM_004722.4(AP4M1):c.961C>T (p.Leu321=)
NM_004722.4(AP4M1):c.974+115dup
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.975-15C>T
NM_004722.4(AP4M1):c.975-16C>T
NM_004722.4(AP4M1):c.975-25_975-22del
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.990C>T (p.Val330=)
NM_004722.4(AP4M1):c.994C>G (p.Leu332Val) rs2116668165
NM_004722.4(AP4M1):c.9C>A (p.Ser3=)

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