NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)
|
rs2515569
|
0.99154
|
NM_024596.5(MCPH1):c.513G>T (p.Arg171Ser)
|
rs2442513
|
0.92258
|
NM_024596.5(MCPH1):c.228G>T (p.Val76=)
|
rs2305022
|
0.69651
|
NM_024596.5(MCPH1):c.940G>C (p.Asp314His)
|
rs930557
|
0.67053
|
NM_024596.5(MCPH1):c.2215-19A>G
|
rs2936531
|
0.45478
|
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)
|
rs1057090
|
0.44044
|
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=)
|
rs2912010
|
0.39666
|
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=)
|
rs2912016
|
0.37333
|
NM_024596.5(MCPH1):c.23-26G>A
|
rs1550697
|
0.33312
|
NM_024596.5(MCPH1):c.*181C>G
|
rs2433149
|
0.30338
|
NM_024596.5(MCPH1):c.2215-15C>G
|
rs11137040
|
0.26204
|
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)
|
rs1057091
|
0.26146
|
NM_024596.5(MCPH1):c.1782G>A (p.Thr594=)
|
rs2584
|
0.24125
|
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=)
|
rs2920676
|
0.14726
|
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn)
|
rs12674488
|
0.13225
|
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile)
|
rs2083914
|
0.10697
|
NM_024596.5(MCPH1):c.863C>A (p.Pro288His)
|
rs35590577
|
0.07163
|
NM_024596.5(MCPH1):c.790A>G (p.Ile264Val)
|
rs34121009
|
0.04213
|
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=)
|
rs41313954
|
0.02943
|
NM_024596.5(MCPH1):c.2400C>T (p.Tyr800=)
|
rs7017210
|
0.02559
|
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr)
|
rs2922828
|
0.01586
|
NM_024596.5(MCPH1):c.23-15A>G
|
rs146351889
|
0.01440
|
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=)
|
rs35551093
|
0.01384
|
NM_024596.5(MCPH1):c.*502T>C
|
rs116253794
|
0.01163
|
NM_024596.5(MCPH1):c.2453-14C>T
|
rs17077744
|
0.00931
|
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly)
|
rs17076894
|
0.00834
|
NM_024596.5(MCPH1):c.2453-13G>A
|
rs111713406
|
0.00748
|
NM_024596.5(MCPH1):c.*199G>A
|
rs17317651
|
0.00596
|
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=)
|
rs186547090
|
0.00403
|
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys)
|
rs115088000
|
0.00334
|
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.647T>C (p.Ile216Thr)
|
rs75741316
|
0.00082
|
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val)
|
rs202241113
|
0.00080
|
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.1061T>C (p.Val354Ala)
|
rs148526209
|
0.00054
|
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu)
|
rs199700538
|
0.00046
|
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.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.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.1189G>A (p.Val397Met)
|
rs539491399
|
0.00012
|
NM_024596.5(MCPH1):c.2452+9C>A
|
rs200446680
|
0.00011
|
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn)
|
rs201128010
|
0.00010
|
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile)
|
rs201405704
|
0.00010
|
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.729A>T (p.Gly243=)
|
rs370543894
|
0.00007
|
NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys)
|
rs757646355
|
0.00006
|
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile)
|
rs201403389
|
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.1974-2A>G
|
rs541042265
|
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.1625T>G (p.Leu542Ter)
|
rs748011724
|
0.00004
|
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer)
|
rs587783735
|
0.00004
|
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter)
|
rs374596700
|
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.1298C>A (p.Ser433Tyr)
|
rs757893077
|
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.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.215C>T (p.Ser72Leu)
|
rs387906961
|
0.00003
|
NM_024596.5(MCPH1):c.561G>T (p.Arg187Ser)
|
rs776125109
|
0.00003
|
NM_024596.5(MCPH1):c.706G>C (p.Asp236His)
|
rs886063057
|
0.00003
|
NM_024596.5(MCPH1):c.80C>G (p.Thr27Arg)
|
rs199422124
|
0.00003
|
NM_024596.5(MCPH1):c.*277A>C
|
rs554279740
|
0.00002
|
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser)
|
rs587783733
|
0.00002
|
NM_024596.5(MCPH1):c.1729G>A (p.Glu577Lys)
|
rs561690042
|
0.00002
|
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter)
|
rs753535530
|
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.135A>C (p.Lys45Asn)
|
rs374363568
|
0.00001
|
NM_024596.5(MCPH1):c.1390G>A (p.Val464Ile)
|
rs531526435
|
0.00001
|
NM_024596.5(MCPH1):c.148G>A (p.Val50Ile)
|
rs779924077
|
0.00001
|
NM_024596.5(MCPH1):c.167A>G (p.Tyr56Cys)
|
rs759874234
|
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.1987G>A (p.Val663Ile)
|
rs752602108
|
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.302C>G (p.Ser101Ter)
|
rs755862917
|
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.74C>G (p.Ser25Ter)
|
rs121434305
|
0.00001
|
NM_024596.5(MCPH1):c.898A>G (p.Ile300Val)
|
rs587783743
|
0.00001
|
GRCh37/hg19 8p23.1(chr8:6261036-6312712)
|
|
|
NM_001363980.2(MCPH1):c.1935+25462_1935+25465del
|
|
|
NM_024596.5(MCPH1):c.*129C>T
|
rs548238521
|
|
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.1026C>T (p.His342=)
|
rs200289785
|
|
NM_024596.5(MCPH1):c.114+6A>G
|
rs377320662
|
|
NM_024596.5(MCPH1):c.1188C>A (p.His396Gln)
|
rs570511077
|
|
NM_024596.5(MCPH1):c.1244A>G (p.Tyr415Cys)
|
|
|
NM_024596.5(MCPH1):c.1281G>T (p.Glu427Asp)
|
rs754200749
|
|
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys)
|
rs202004426
|
|
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn)
|
rs548329168
|
|
NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile)
|
rs926140350
|
|
NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile)
|
rs745702205
|
|
NM_024596.5(MCPH1):c.147C>G (p.His49Gln)
|
rs1488084787
|
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
|
NM_024596.5(MCPH1):c.1589A>T (p.Glu530Val)
|
rs200823026
|
|
NM_024596.5(MCPH1):c.1616A>G (p.Asp539Gly)
|
rs587783734
|
|
NM_024596.5(MCPH1):c.1677A>G (p.Lys559=)
|
rs886063058
|
|
NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp)
|
rs1585816128
|
|
NM_024596.5(MCPH1):c.1806A>C (p.Leu602Phe)
|
rs34418490
|
|
NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg)
|
|
|
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs)
|
rs1554496609
|
|
NM_024596.5(MCPH1):c.1935+6T>C
|
|
|
NM_024596.5(MCPH1):c.1956G>A (p.Met652Ile)
|
rs1808650754
|
|
NM_024596.5(MCPH1):c.1978C>T (p.Gln660Ter)
|
|
|
NM_024596.5(MCPH1):c.1986C>G (p.Val662=)
|
rs754730567
|
|
NM_024596.5(MCPH1):c.2002del (p.Asp668fs)
|
rs1809112398
|
|
NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe)
|
|
|
NM_024596.5(MCPH1):c.2127_2128del (p.Ser709_Tyr710insTer)
|
rs2129559817
|
|
NM_024596.5(MCPH1):c.2136+1G>T
|
|
|
NM_024596.5(MCPH1):c.22+2_22+4del
|
rs1554471681
|
|
NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC
|
rs2129580718
|
|
NM_024596.5(MCPH1):c.2254C>G (p.Arg752Gly)
|
rs373658774
|
|
NM_024596.5(MCPH1):c.2256C>G (p.Arg752=)
|
rs35999761
|
|
NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg)
|
rs587783737
|
|
NM_024596.5(MCPH1):c.2257G>C (p.Gly753Arg)
|
rs587783737
|
|
NM_024596.5(MCPH1):c.2288T>C (p.Phe763Ser)
|
rs587783738
|
|
NM_024596.5(MCPH1):c.23-1G>C
|
rs1269068071
|
|
NM_024596.5(MCPH1):c.2400C>A (p.Tyr800Ter)
|
rs7017210
|
|
NM_024596.5(MCPH1):c.2404G>T (p.Gly802Ter)
|
|
|
NM_024596.5(MCPH1):c.2410A>T (p.Lys804Ter)
|
rs2129580766
|
|
NM_024596.5(MCPH1):c.2429A>G (p.Tyr810Cys)
|
rs35013679
|
|
NM_024596.5(MCPH1):c.2435C>G (p.Ser812Cys)
|
rs755280764
|
|
NM_024596.5(MCPH1):c.2453-1G>C
|
rs587783739
|
|
NM_024596.5(MCPH1):c.2462C>T (p.Thr821Ile)
|
rs1586908818
|
|
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu)
|
rs587783741
|
|
NM_024596.5(MCPH1):c.321dup (p.Arg108fs)
|
rs759663956
|
|
NM_024596.5(MCPH1):c.355A>G (p.Lys119Glu)
|
|
|
NM_024596.5(MCPH1):c.427dup (p.Thr143fs)
|
rs199422125
|
|
NM_024596.5(MCPH1):c.433C>G (p.Leu145Val)
|
rs139607465
|
|
NM_024596.5(MCPH1):c.433C>T (p.Leu145=)
|
rs139607465
|
|
NM_024596.5(MCPH1):c.437-15T>C
|
rs886063056
|
|
NM_024596.5(MCPH1):c.477del (p.Ser159_Leu160insTer)
|
|
|
NM_024596.5(MCPH1):c.566dup (p.Asn189fs)
|
rs753597039
|
|
NM_024596.5(MCPH1):c.586del (p.Gln196fs)
|
rs1803595754
|
|
NM_024596.5(MCPH1):c.605A>G (p.His202Arg)
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rs369302385
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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.625_626del (p.Leu209fs)
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NM_024596.5(MCPH1):c.64G>A (p.Glu22Lys)
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rs774692658
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NM_024596.5(MCPH1):c.698C>A (p.Ser233Ter)
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