NM_024596.5(MCPH1):c.2453-14C>T
|
rs17077744
|
0.00931
|
NM_024596.5(MCPH1):c.477A>T (p.Ser159=)
|
rs41313948
|
0.00328
|
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met)
|
rs146586991
|
0.00302
|
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly)
|
rs45540031
|
0.00217
|
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly)
|
rs61749465
|
0.00191
|
NM_024596.5(MCPH1):c.2466G>A (p.Gln822=)
|
rs35614690
|
0.00169
|
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)
|
rs77959215
|
0.00160
|
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=)
|
rs141218500
|
0.00134
|
NM_024596.5(MCPH1):c.1951G>A (p.Val651Ile)
|
rs138218829
|
0.00089
|
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val)
|
rs202241113
|
0.00080
|
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=)
|
rs377400638
|
0.00079
|
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn)
|
rs201261159
|
0.00067
|
NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys)
|
rs201039834
|
0.00067
|
NM_024596.5(MCPH1):c.*285G>A
|
rs182479249
|
0.00064
|
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr)
|
rs183880522
|
0.00060
|
NM_024596.5(MCPH1):c.1061T>C (p.Val354Ala)
|
rs148526209
|
0.00054
|
NM_024596.5(MCPH1):c.928G>A (p.Val310Ile)
|
rs199865930
|
0.00051
|
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu)
|
rs199700538
|
0.00046
|
NM_024596.5(MCPH1):c.1864G>T (p.Asp622Tyr)
|
rs201318603
|
0.00041
|
NM_024596.5(MCPH1):c.1894A>G (p.Lys632Glu)
|
rs377464331
|
0.00037
|
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg)
|
rs41313952
|
0.00037
|
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=)
|
rs146744659
|
0.00035
|
NM_024596.5(MCPH1):c.115-14C>T
|
rs200346652
|
0.00028
|
NM_024596.5(MCPH1):c.2294C>G (p.Ser765Trp)
|
rs200820759
|
0.00027
|
NM_024596.5(MCPH1):c.489T>C (p.Thr163=)
|
rs191104356
|
0.00026
|
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro)
|
rs556803400
|
0.00022
|
NM_024596.5(MCPH1):c.1742A>G (p.Glu581Gly)
|
rs35402812
|
0.00022
|
NM_024596.5(MCPH1):c.1759A>G (p.Ile587Val)
|
rs372378731
|
0.00022
|
NM_024596.5(MCPH1):c.1226A>T (p.Glu409Val)
|
rs200518541
|
0.00021
|
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=)
|
rs372450763
|
0.00021
|
NM_024596.5(MCPH1):c.1825+14C>G
|
rs2583
|
0.00019
|
NM_024596.5(MCPH1):c.2295G>A (p.Ser765=)
|
rs200401940
|
0.00019
|
NM_024596.5(MCPH1):c.867G>A (p.Gln289=)
|
rs201231900
|
0.00019
|
NM_024596.5(MCPH1):c.775A>C (p.Lys259Gln)
|
rs375695403
|
0.00018
|
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=)
|
rs185736569
|
0.00017
|
NM_024596.5(MCPH1):c.2417C>T (p.Ala806Val)
|
rs202101904
|
0.00016
|
NM_024596.5(MCPH1):c.2499G>T (p.Leu833Phe)
|
rs34009706
|
0.00016
|
NM_024596.5(MCPH1):c.2108G>A (p.Arg703His)
|
rs370275760
|
0.00013
|
NM_024596.5(MCPH1):c.2272G>A (p.Asp758Asn)
|
rs376082728
|
0.00013
|
NM_024596.5(MCPH1):c.1189G>A (p.Val397Met)
|
rs539491399
|
0.00012
|
NM_024596.5(MCPH1):c.1202C>T (p.Ala401Val)
|
rs377725772
|
0.00011
|
NM_024596.5(MCPH1):c.2353C>T (p.Arg785Trp)
|
rs759811955
|
0.00011
|
NM_024596.5(MCPH1):c.2452+9C>A
|
rs200446680
|
0.00011
|
NM_024596.5(MCPH1):c.1118G>C (p.Arg373Thr)
|
rs373762532
|
0.00010
|
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn)
|
rs201128010
|
0.00010
|
NM_024596.5(MCPH1):c.1459A>G (p.Thr487Ala)
|
rs775878359
|
0.00010
|
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile)
|
rs201405704
|
0.00010
|
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=)
|
rs186136373
|
0.00010
|
NM_024596.5(MCPH1):c.2335G>A (p.Val779Ile)
|
rs751832733
|
0.00010
|
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=)
|
rs192003514
|
0.00009
|
NM_024596.5(MCPH1):c.2077C>T (p.Arg693Cys)
|
rs376996626
|
0.00009
|
NM_024596.5(MCPH1):c.869A>T (p.Lys290Ile)
|
rs200814676
|
0.00009
|
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser)
|
rs369127299
|
0.00008
|
NM_024596.5(MCPH1):c.1903G>A (p.Glu635Lys)
|
rs745847798
|
0.00007
|
NM_024596.5(MCPH1):c.1930A>G (p.Lys644Glu)
|
rs201848494
|
0.00007
|
NM_024596.5(MCPH1):c.729A>T (p.Gly243=)
|
rs370543894
|
0.00007
|
NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys)
|
rs757646355
|
0.00006
|
NM_024596.5(MCPH1):c.2404G>A (p.Gly802Arg)
|
rs370842740
|
0.00006
|
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile)
|
rs201403389
|
0.00006
|
NM_024596.5(MCPH1):c.505A>T (p.Asn169Tyr)
|
rs201120541
|
0.00006
|
NM_024596.5(MCPH1):c.616A>G (p.Ser206Gly)
|
rs200071210
|
0.00006
|
NM_024596.5(MCPH1):c.641T>G (p.Leu214Trp)
|
rs763114241
|
0.00006
|
NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys)
|
rs757012933
|
0.00006
|
NM_024596.5(MCPH1):c.1052G>T (p.Ser351Ile)
|
rs145820898
|
0.00005
|
NM_024596.5(MCPH1):c.1291C>T (p.Pro431Ser)
|
rs376658910
|
0.00005
|
NM_024596.5(MCPH1):c.1502C>T (p.Ser501Phe)
|
rs771862271
|
0.00005
|
NM_024596.5(MCPH1):c.1974-2A>G
|
rs541042265
|
0.00005
|
NM_024596.5(MCPH1):c.859A>C (p.Ser287Arg)
|
rs149813931
|
0.00005
|
NM_024596.5(MCPH1):c.*295A>C
|
rs772797157
|
0.00004
|
NM_024596.5(MCPH1):c.*388G>C
|
rs948143436
|
0.00004
|
NM_024596.5(MCPH1):c.1069A>C (p.Lys357Gln)
|
rs779574623
|
0.00004
|
NM_024596.5(MCPH1):c.1113C>T (p.Cys371=)
|
rs587783732
|
0.00004
|
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=)
|
rs201026769
|
0.00004
|
NM_024596.5(MCPH1):c.1408A>G (p.Thr470Ala)
|
rs911978407
|
0.00004
|
NM_024596.5(MCPH1):c.2255G>A (p.Arg752His)
|
rs536823455
|
0.00004
|
NM_024596.5(MCPH1):c.322-1G>C
|
rs201721894
|
0.00004
|
NM_024596.5(MCPH1):c.*122T>A
|
rs950454282
|
0.00003
|
NM_024596.5(MCPH1):c.*86A>G
|
rs886063069
|
0.00003
|
NM_024596.5(MCPH1):c.-10G>C
|
rs773915060
|
0.00003
|
NM_024596.5(MCPH1):c.115-6C>G
|
rs368712550
|
0.00003
|
NM_024596.5(MCPH1):c.1298C>A (p.Ser433Tyr)
|
rs757893077
|
0.00003
|
NM_024596.5(MCPH1):c.1417A>C (p.Ile473Leu)
|
rs1245850569
|
0.00003
|
NM_024596.5(MCPH1):c.145C>G (p.His49Asp)
|
rs372088330
|
0.00003
|
NM_024596.5(MCPH1):c.149T>G (p.Val50Gly)
|
rs566242931
|
0.00003
|
NM_024596.5(MCPH1):c.151A>G (p.Ile51Val)
|
rs538316396
|
0.00003
|
NM_024596.5(MCPH1):c.1522A>G (p.Arg508Gly)
|
rs776261508
|
0.00003
|
NM_024596.5(MCPH1):c.1661A>T (p.Glu554Val)
|
rs779570029
|
0.00003
|
NM_024596.5(MCPH1):c.1681del (p.Thr561fs)
|
rs773342658
|
0.00003
|
NM_024596.5(MCPH1):c.1712C>G (p.Ser571Ter)
|
rs371010315
|
0.00003
|
NM_024596.5(MCPH1):c.1779G>C (p.Glu593Asp)
|
rs750376557
|
0.00003
|
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser)
|
rs189380942
|
0.00003
|
NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val)
|
rs751512309
|
0.00003
|
NM_024596.5(MCPH1):c.2309C>T (p.Pro770Leu)
|
rs1085307735
|
0.00003
|
NM_024596.5(MCPH1):c.297C>T (p.His99=)
|
rs727504012
|
0.00003
|
NM_024596.5(MCPH1):c.561G>T (p.Arg187Ser)
|
rs776125109
|
0.00003
|
NM_024596.5(MCPH1):c.61A>G (p.Thr21Ala)
|
rs537115782
|
0.00003
|
NM_024596.5(MCPH1):c.706G>C (p.Asp236His)
|
rs886063057
|
0.00003
|
NM_024596.5(MCPH1):c.*277A>C
|
rs554279740
|
0.00002
|
NM_024596.5(MCPH1):c.1285C>T (p.Leu429Phe)
|
rs199553451
|
0.00002
|
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser)
|
rs587783733
|
0.00002
|
NM_024596.5(MCPH1):c.1630C>G (p.Pro544Ala)
|
rs1295124257
|
0.00002
|
NM_024596.5(MCPH1):c.1729G>A (p.Glu577Lys)
|
rs561690042
|
0.00002
|
NM_024596.5(MCPH1):c.2136G>T (p.Trp712Cys)
|
rs778229284
|
0.00002
|
NM_024596.5(MCPH1):c.217G>C (p.Val73Leu)
|
rs376364603
|
0.00002
|
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter)
|
rs753535530
|
0.00002
|
NM_024596.5(MCPH1):c.530A>C (p.Glu177Ala)
|
rs181765480
|
0.00002
|
NM_024596.5(MCPH1):c.671-3C>T
|
rs374793979
|
0.00002
|
NM_024596.5(MCPH1):c.932T>G (p.Val311Gly)
|
rs779253079
|
0.00002
|
NM_024596.5(MCPH1):c.974C>T (p.Thr325Met)
|
rs745348836
|
0.00002
|
NM_024596.5(MCPH1):c.*412C>T
|
rs886063071
|
0.00001
|
NM_024596.5(MCPH1):c.*433C>G
|
rs1159852630
|
0.00001
|
NM_024596.5(MCPH1):c.1144A>T (p.Met382Leu)
|
rs1449134332
|
0.00001
|
NM_024596.5(MCPH1):c.1169C>T (p.Ser390Leu)
|
rs534041070
|
0.00001
|
NM_024596.5(MCPH1):c.1336A>C (p.Ser446Arg)
|
rs374630259
|
0.00001
|
NM_024596.5(MCPH1):c.135A>C (p.Lys45Asn)
|
rs374363568
|
0.00001
|
NM_024596.5(MCPH1):c.1370A>G (p.Glu457Gly)
|
rs1438992000
|
0.00001
|
NM_024596.5(MCPH1):c.1390G>A (p.Val464Ile)
|
rs531526435
|
0.00001
|
NM_024596.5(MCPH1):c.1402A>T (p.Thr468Ser)
|
rs1472912410
|
0.00001
|
NM_024596.5(MCPH1):c.148G>A (p.Val50Ile)
|
rs779924077
|
0.00001
|
NM_024596.5(MCPH1):c.1494C>T (p.Cys498=)
|
rs199951156
|
0.00001
|
NM_024596.5(MCPH1):c.1538C>G (p.Ala513Gly)
|
rs774647639
|
0.00001
|
NM_024596.5(MCPH1):c.1563G>C (p.Glu521Asp)
|
rs535274041
|
0.00001
|
NM_024596.5(MCPH1):c.167A>G (p.Tyr56Cys)
|
rs759874234
|
0.00001
|
NM_024596.5(MCPH1):c.1810G>A (p.Gly604Arg)
|
rs369120387
|
0.00001
|
NM_024596.5(MCPH1):c.1825+6T>G
|
rs1457415233
|
0.00001
|
NM_024596.5(MCPH1):c.1850A>G (p.His617Arg)
|
rs201041518
|
0.00001
|
NM_024596.5(MCPH1):c.192G>A (p.Gln64=)
|
rs767548647
|
0.00001
|
NM_024596.5(MCPH1):c.1936-10A>G
|
rs587783736
|
0.00001
|
NM_024596.5(MCPH1):c.1978C>G (p.Gln660Glu)
|
rs369240170
|
0.00001
|
NM_024596.5(MCPH1):c.1987G>A (p.Val663Ile)
|
rs752602108
|
0.00001
|
NM_024596.5(MCPH1):c.2000T>C (p.Val667Ala)
|
rs564538112
|
0.00001
|
NM_024596.5(MCPH1):c.2023A>G (p.Ile675Val)
|
rs1289809517
|
0.00001
|
NM_024596.5(MCPH1):c.2078G>A (p.Arg693His)
|
rs370011131
|
0.00001
|
NM_024596.5(MCPH1):c.285T>C (p.Asn95=)
|
rs187466318
|
0.00001
|
NM_024596.5(MCPH1):c.340A>G (p.Lys114Glu)
|
rs371941778
|
0.00001
|
NM_024596.5(MCPH1):c.502A>G (p.Ile168Val)
|
rs752860887
|
0.00001
|
NM_024596.5(MCPH1):c.523G>A (p.Ala175Thr)
|
rs370831760
|
0.00001
|
NM_024596.5(MCPH1):c.646A>G (p.Ile216Val)
|
rs983967995
|
0.00001
|
NM_024596.5(MCPH1):c.701C>G (p.Ser234Cys)
|
rs774430232
|
0.00001
|
NM_024596.5(MCPH1):c.833C>T (p.Pro278Leu)
|
rs750528950
|
0.00001
|
NM_024596.5(MCPH1):c.898A>G (p.Ile300Val)
|
rs587783743
|
0.00001
|
NM_024596.5(MCPH1):c.954T>C (p.Ala318=)
|
rs770723949
|
0.00001
|
NM_024596.5(MCPH1):c.991C>T (p.Arg331Cys)
|
rs143393335
|
0.00001
|
GRCh37/hg19 8p23.1(chr8:6223920-6284215)x1
|
|
|
GRCh37/hg19 8p23.1(chr8:6431852-6498404)x1
|
|
|
GRCh37/hg19 8p23.2-23.1(chr8:6127398-6303901)x3
|
|
|
GRCh37/hg19 8p23.2-23.1(chr8:6131268-6289937)x1
|
|
|
GRCh37/hg19 8p23.2-23.1(chr8:6136512-6266774)x1
|
|
|
GRCh37/hg19 8p23.2-23.1(chr8:6172625-6335548)x1
|
|
|
GRCh37/hg19 8p23.2-23.1(chr8:6174886-6300232)x1
|
|
|
GRCh37/hg19 8p23.2-23.1(chr8:6180484-6318347)x1
|
|
|
GRCh37/hg19 8p23.2-23.1(chr8:6188594-6291181)x1
|
|
|
NC_000008.10:g.(?_6264189)_(6303088_?)dup
|
|
|
NC_000008.10:g.(?_6500495)_(6500570_?)del
|
|
|
NC_000008.10:g.(?_6500495)_(6500570_?)dup
|
|
|
NM_024596.5(MCPH1):c.*129C>T
|
rs548238521
|
|
NM_024596.5(MCPH1):c.*181_*184del
|
rs886063070
|
|
NM_024596.5(MCPH1):c.*388G>T
|
rs948143436
|
|
NM_024596.5(MCPH1):c.*38C>G
|
rs761964470
|
|
NM_024596.5(MCPH1):c.*457C>G
|
rs146726854
|
|
NM_024596.5(MCPH1):c.*64T>C
|
rs1798042052
|
|
NM_024596.5(MCPH1):c.-39G>A
|
rs768188163
|
|
NM_024596.5(MCPH1):c.-41A>C
|
rs769260580
|
|
NM_024596.5(MCPH1):c.1024C>T (p.His342Tyr)
|
|
|
NM_024596.5(MCPH1):c.1025A>G (p.His342Arg)
|
|
|
NM_024596.5(MCPH1):c.1026C>T (p.His342=)
|
rs200289785
|
|
NM_024596.5(MCPH1):c.1035A>G (p.Ile345Met)
|
|
|
NM_024596.5(MCPH1):c.1065G>T (p.Lys355Asn)
|
|
|
NM_024596.5(MCPH1):c.1092T>G (p.His364Gln)
|
|
|
NM_024596.5(MCPH1):c.1100C>T (p.Pro367Leu)
|
|
|
NM_024596.5(MCPH1):c.1136G>T (p.Arg379Ile)
|
|
|
NM_024596.5(MCPH1):c.1139C>A (p.Ser380Tyr)
|
|
|
NM_024596.5(MCPH1):c.114+5G>A
|
|
|
NM_024596.5(MCPH1):c.114+6A>G
|
rs377320662
|
|
NM_024596.5(MCPH1):c.1141A>G (p.Ile381Val)
|
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NM_024596.5(MCPH1):c.1163G>A (p.Cys388Tyr)
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rs758015103
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NM_024596.5(MCPH1):c.1188C>A (p.His396Gln)
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rs570511077
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NM_024596.5(MCPH1):c.1188C>G (p.His396Gln)
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rs570511077
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NM_024596.5(MCPH1):c.1190T>A (p.Val397Glu)
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NM_024596.5(MCPH1):c.1211C>T (p.Ala404Val)
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NM_024596.5(MCPH1):c.1213C>T (p.Leu405Phe)
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NM_024596.5(MCPH1):c.1241A>G (p.Asp414Gly)
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NM_024596.5(MCPH1):c.1243T>G (p.Tyr415Asp)
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NM_024596.5(MCPH1):c.1244A>C (p.Tyr415Ser)
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rs199724219
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NM_024596.5(MCPH1):c.1244A>G (p.Tyr415Cys)
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NM_024596.5(MCPH1):c.1256A>C (p.Asp419Ala)
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NM_024596.5(MCPH1):c.1281G>T (p.Glu427Asp)
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rs754200749
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NM_024596.5(MCPH1):c.1306C>T (p.Pro436Ser)
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NM_024596.5(MCPH1):c.1345AAG[1] (p.Lys450del)
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NM_024596.5(MCPH1):c.1372A>G (p.Met458Val)
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NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn)
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rs548329168
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NM_024596.5(MCPH1):c.1421C>A (p.Thr474Asn)
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NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile)
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rs926140350
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NM_024596.5(MCPH1):c.1441A>G (p.Ile481Val)
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NM_024596.5(MCPH1):c.1441A>T (p.Ile481Phe)
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rs768776312
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NM_024596.5(MCPH1):c.1442T>C (p.Ile481Thr)
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NM_024596.5(MCPH1):c.146A>G (p.His49Arg)
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rs1799025968
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NM_024596.5(MCPH1):c.1486del (p.Ser496fs)
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NM_024596.5(MCPH1):c.1493G>C (p.Cys498Ser)
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NM_024596.5(MCPH1):c.1552G>T (p.Ala518Ser)
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NM_024596.5(MCPH1):c.1553C>T (p.Ala518Val)
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rs1466023730
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NM_024596.5(MCPH1):c.1558C>G (p.Pro520Ala)
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NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
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rs572671721
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NM_024596.5(MCPH1):c.1589A>T (p.Glu530Val)
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rs200823026
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NM_024596.5(MCPH1):c.1594C>A (p.Pro532Thr)
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NM_024596.5(MCPH1):c.1600C>G (p.Leu534Val)
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NM_024596.5(MCPH1):c.1615GAT[2] (p.Asp541del)
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rs1275821995
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NM_024596.5(MCPH1):c.1616A>G (p.Asp539Gly)
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rs587783734
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NM_024596.5(MCPH1):c.1631C>T (p.Pro544Leu)
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NM_024596.5(MCPH1):c.1677A>G (p.Lys559=)
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rs886063058
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NM_024596.5(MCPH1):c.1682C>G (p.Thr561Arg)
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NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp)
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rs1585816128
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NM_024596.5(MCPH1):c.173G>A (p.Ser58Asn)
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NM_024596.5(MCPH1):c.1777G>C (p.Glu593Gln)
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NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg)
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rs115033462
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NM_024596.5(MCPH1):c.1806A>C (p.Leu602Phe)
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rs34418490
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NM_024596.5(MCPH1):c.1829T>G (p.Val610Gly)
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NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg)
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NM_024596.5(MCPH1):c.1853A>C (p.Asp618Ala)
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NM_024596.5(MCPH1):c.1867T>C (p.Ser623Pro)
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rs2129556799
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NM_024596.5(MCPH1):c.1871G>A (p.Cys624Tyr)
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rs1290757964
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NM_024596.5(MCPH1):c.1898C>T (p.Pro633Leu)
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NM_024596.5(MCPH1):c.1917A>C (p.Lys639Asn)
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NM_024596.5(MCPH1):c.1921G>A (p.Gly641Arg)
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NM_024596.5(MCPH1):c.1927G>C (p.Gly643Arg)
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NM_024596.5(MCPH1):c.1935+6T>C
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NM_024596.5(MCPH1):c.1937C>G (p.Pro646Arg)
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rs1403723725
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NM_024596.5(MCPH1):c.1939A>T (p.Thr647Ser)
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NM_024596.5(MCPH1):c.193A>G (p.Lys65Glu)
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NM_024596.5(MCPH1):c.1956G>A (p.Met652Ile)
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rs1808650754
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NM_024596.5(MCPH1):c.1986C>G (p.Val662=)
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rs754730567
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NM_024596.5(MCPH1):c.1995G>C (p.Gln665His)
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NM_024596.5(MCPH1):c.1996G>A (p.Val666Ile)
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NM_024596.5(MCPH1):c.199G>C (p.Gly67Arg)
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NM_024596.5(MCPH1):c.2009T>G (p.Leu670Trp)
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NM_024596.5(MCPH1):c.2035G>A (p.Val679Ile)
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NM_024596.5(MCPH1):c.2078G>T (p.Arg693Leu)
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rs370011131
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NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe)
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NM_024596.5(MCPH1):c.211G>A (p.Val71Ile)
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NM_024596.5(MCPH1):c.2126C>T (p.Ser709Phe)
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NM_024596.5(MCPH1):c.216G>A (p.Ser72=)
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rs775942126
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NM_024596.5(MCPH1):c.218T>G (p.Val73Gly)
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NM_024596.5(MCPH1):c.2215-1_2215delinsTT
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NM_024596.5(MCPH1):c.2215-2_2253dup
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NM_024596.5(MCPH1):c.221T>G (p.Leu74Arg)
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NM_024596.5(MCPH1):c.223T>G (p.Trp75Gly)
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NM_024596.5(MCPH1):c.2249C>G (p.Pro750Arg)
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NM_024596.5(MCPH1):c.2254C>G (p.Arg752Gly)
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rs373658774
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NM_024596.5(MCPH1):c.2256C>G (p.Arg752=)
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rs35999761
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NM_024596.5(MCPH1):c.2256_2257delinsGC (p.Gly753Arg)
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rs2129580734
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NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg)
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rs587783737
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NM_024596.5(MCPH1):c.2257G>C (p.Gly753Arg)
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rs587783737
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NM_024596.5(MCPH1):c.2288T>C (p.Phe763Ser)
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rs587783738
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NM_024596.5(MCPH1):c.2294C>T (p.Ser765Leu)
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NM_024596.5(MCPH1):c.22G>A (p.Asp8Asn)
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NM_024596.5(MCPH1):c.23-9T>G
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rs1554473238
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NM_024596.5(MCPH1):c.2312C>T (p.Pro771Leu)
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rs1039322742
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NM_024596.5(MCPH1):c.2329G>A (p.Glu777Lys)
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NM_024596.5(MCPH1):c.233+6C>T
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NM_024596.5(MCPH1):c.2354G>A (p.Arg785Gln)
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NM_024596.5(MCPH1):c.2368C>T (p.Pro790Ser)
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rs1586835974
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NM_024596.5(MCPH1):c.2378C>G (p.Ala793Gly)
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rs781673106
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NM_024596.5(MCPH1):c.2386G>A (p.Val796Ile)
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NM_024596.5(MCPH1):c.2399A>T (p.Tyr800Phe)
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rs117059261
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NM_024596.5(MCPH1):c.2400C>A (p.Tyr800Ter)
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rs7017210
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NM_024596.5(MCPH1):c.2417_2418delinsTA (p.Ala806Val)
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rs2129580771
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NM_024596.5(MCPH1):c.2422G>A (p.Val808Ile)
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NM_024596.5(MCPH1):c.2426A>C (p.Lys809Thr)
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NM_024596.5(MCPH1):c.2427G>T (p.Lys809Asn)
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rs756558938
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NM_024596.5(MCPH1):c.2429A>G (p.Tyr810Cys)
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rs35013679
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NM_024596.5(MCPH1):c.2434T>C (p.Ser812Pro)
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rs794727105
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NM_024596.5(MCPH1):c.2435C>G (p.Ser812Cys)
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rs755280764
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NM_024596.5(MCPH1):c.2453-12CT[4]
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rs761267827
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NM_024596.5(MCPH1):c.2453-1G>C
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rs587783739
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NM_024596.5(MCPH1):c.2462C>G (p.Thr821Ser)
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NM_024596.5(MCPH1):c.2462C>T (p.Thr821Ile)
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rs1586908818
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NM_024596.5(MCPH1):c.2477G>T (p.Cys826Phe)
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rs1554492950
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NM_024596.5(MCPH1):c.258T>G (p.Ile86Met)
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NM_024596.5(MCPH1):c.261T>G (p.Asp87Glu)
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NM_024596.5(MCPH1):c.264A>C (p.Glu88Asp)
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NM_024596.5(MCPH1):c.275C>T (p.Pro92Leu)
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NM_024596.5(MCPH1):c.305G>A (p.Ser102Asn)
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rs2290145
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NM_024596.5(MCPH1):c.306C>G (p.Ser102Arg)
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NM_024596.5(MCPH1):c.328T>C (p.Cys110Arg)
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NM_024596.5(MCPH1):c.344A>T (p.Asp115Val)
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NM_024596.5(MCPH1):c.352T>G (p.Phe118Val)
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rs2129554586
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NM_024596.5(MCPH1):c.355A>G (p.Lys119Glu)
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NM_024596.5(MCPH1):c.425A>T (p.Lys142Ile)
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NM_024596.5(MCPH1):c.432T>A (p.Asn144Lys)
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rs891865529
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NM_024596.5(MCPH1):c.433C>G (p.Leu145Val)
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rs139607465
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NM_024596.5(MCPH1):c.433C>T (p.Leu145=)
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rs139607465
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NM_024596.5(MCPH1):c.437-15T>C
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rs886063056
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NM_024596.5(MCPH1):c.437-3C>T
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NM_024596.5(MCPH1):c.461T>G (p.Phe154Cys)
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NM_024596.5(MCPH1):c.484T>C (p.Tyr162His)
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rs761012601
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NM_024596.5(MCPH1):c.497T>A (p.Ile166Asn)
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rs765620307
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NM_024596.5(MCPH1):c.565A>G (p.Asn189Asp)
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NM_024596.5(MCPH1):c.569T>C (p.Leu190Pro)
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NM_024596.5(MCPH1):c.571T>C (p.Ser191Pro)
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rs2129554944
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NM_024596.5(MCPH1):c.5C>T (p.Ala2Val)
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rs759488210
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NM_024596.5(MCPH1):c.605A>G (p.His202Arg)
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rs369302385
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NM_024596.5(MCPH1):c.605A>T (p.His202Leu)
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NM_024596.5(MCPH1):c.610A>G (p.Asn204Asp)
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NM_024596.5(MCPH1):c.614C>T (p.Pro205Leu)
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rs587783742
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NM_024596.5(MCPH1):c.649T>A (p.Ser217Thr)
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NM_024596.5(MCPH1):c.649T>G (p.Ser217Ala)
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NM_024596.5(MCPH1):c.659C>G (p.Thr220Ser)
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NM_024596.5(MCPH1):c.670+5A>C
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NM_024596.5(MCPH1):c.671A>T (p.Asp224Val)
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NM_024596.5(MCPH1):c.694C>G (p.His232Asp)
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NM_024596.5(MCPH1):c.797C>T (p.Ser266Leu)
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rs1803977781
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NM_024596.5(MCPH1):c.7G>T (p.Ala3Ser)
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rs2129550282
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NM_024596.5(MCPH1):c.818A>G (p.Asn273Ser)
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rs2129555606
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NM_024596.5(MCPH1):c.821T>C (p.Ile274Thr)
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NM_024596.5(MCPH1):c.90A>G (p.Thr30=)
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rs139678787
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NM_024596.5(MCPH1):c.952G>A (p.Ala318Thr)
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NM_024596.5(MCPH1):c.961A>C (p.Met321Leu)
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NM_024596.5(MCPH1):c.974C>G (p.Thr325Arg)
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NM_024596.5(MCPH1):c.987G>T (p.Lys329Asn)
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NM_024596.5(MCPH1):c.992G>C (p.Arg331Pro)
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