NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)
|
rs2515569
|
0.99154
|
NM_024596.5(MCPH1):c.2136+292G>A
|
rs1550689
|
0.98688
|
NM_024596.5(MCPH1):c.233+128T>A
|
rs2515417
|
0.97012
|
NM_024596.5(MCPH1):c.233+77C>G
|
rs2442545
|
0.97009
|
NM_024596.5(MCPH1):c.233+73A>G
|
rs2515415
|
0.97007
|
NM_024596.5(MCPH1):c.115-101G>T
|
rs2440437
|
0.96959
|
NM_024596.5(MCPH1):c.1935+107C>T
|
rs2515575
|
0.94160
|
NM_024596.5(MCPH1):c.513G>T (p.Arg171Ser)
|
rs2442513
|
0.92258
|
NM_024596.5(MCPH1):c.234-141A>T
|
rs2251956
|
0.72069
|
NM_024596.5(MCPH1):c.581-56A>G
|
rs2053618
|
0.69853
|
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.233+137del
|
rs3214738
|
0.64286
|
NM_024596.5(MCPH1):c.115-130G>A
|
rs2442546
|
0.64172
|
NM_024596.4(MCPH1):c.-59G>C
|
rs2305023
|
0.63721
|
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.2452+285G>A
|
rs2011423
|
0.38601
|
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=)
|
rs2912016
|
0.37333
|
NM_024596.5(MCPH1):c.2452+70G>T
|
rs11137041
|
0.33699
|
NM_024596.5(MCPH1):c.23-107C>T
|
rs1550698
|
0.33375
|
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.233+53T>G
|
rs2305021
|
0.25908
|
NM_024596.5(MCPH1):c.2137-280C>T
|
rs34744896
|
0.24345
|
NM_024596.5(MCPH1):c.1782G>A (p.Thr594=)
|
rs2584
|
0.24125
|
NM_024596.5(MCPH1):c.436+183C>T
|
rs3816402
|
0.22312
|
NM_024596.5(MCPH1):c.2452+220A>G
|
rs2515559
|
0.19985
|
NM_024596.5(MCPH1):c.2136+267T>G
|
rs12677501
|
0.15367
|
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=)
|
rs2920676
|
0.14726
|
NM_024596.5(MCPH1):c.1974-297C>G
|
rs13282116
|
0.14671
|
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn)
|
rs12674488
|
0.13225
|
NM_024596.5(MCPH1):c.1973+56T>C
|
rs2277136
|
0.12539
|
NM_024596.5(MCPH1):c.114+66A>G
|
rs1550696
|
0.11621
|
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile)
|
rs2083914
|
0.10697
|
NM_024596.5(MCPH1):c.513= (p.Arg171=)
|
rs2442513
|
0.07742
|
NM_024596.5(MCPH1):c.321+163A>G
|
rs77310992
|
0.07234
|
NM_024596.5(MCPH1):c.436+326A>G
|
rs77104350
|
0.07227
|
NM_024596.5(MCPH1):c.437-129G>A
|
rs74448908
|
0.07186
|
NM_024596.5(MCPH1):c.863C>A (p.Pro288His)
|
rs35590577
|
0.07163
|
NM_024596.5(MCPH1):c.1936-43T>G
|
rs41311412
|
0.06799
|
NM_024596.5(MCPH1):c.580+277A>T
|
rs567244080
|
0.05285
|
NM_024596.5(MCPH1):c.115-148T>C
|
rs17076773
|
0.05121
|
NM_024596.5(MCPH1):c.1973+226G>C
|
rs1550691
|
0.04972
|
NM_024596.5(MCPH1):c.2452+148C>G
|
rs890223
|
0.04546
|
NM_024596.5(MCPH1):c.2215-249C>A
|
rs71525742
|
0.04483
|
NM_024596.5(MCPH1):c.790A>G (p.Ile264Val)
|
rs34121009
|
0.04213
|
NM_024596.5(MCPH1):c.2453-130G>A
|
rs7005925
|
0.03077
|
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.2136+298T>C
|
rs7005212
|
0.02293
|
NM_024596.5(MCPH1):c.2452+3494A>G
|
rs2448612
|
0.02224
|
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr)
|
rs2922828
|
0.01586
|
NM_024596.5(MCPH1):c.1973+301C>G
|
rs73661774
|
0.01554
|
NM_024596.5(MCPH1):c.1936-42_1936-41insA
|
rs111731804
|
0.01550
|
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.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.1781C>T (p.Thr594Met)
|
rs115033462
|
0.00319
|
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.2250G>T (p.Pro750=)
|
rs370202384
|
0.00146
|
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=)
|
rs141218500
|
0.00134
|
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=)
|
rs142858644
|
0.00120
|
NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr)
|
rs75741316
|
0.00082
|
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=)
|
rs377400638
|
0.00079
|
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr)
|
rs183880522
|
0.00060
|
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.489T>C (p.Thr163=)
|
rs191104356
|
0.00026
|
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro)
|
rs556803400
|
0.00022
|
NM_024596.5(MCPH1):c.2295G>A (p.Ser765=)
|
rs200401940
|
0.00019
|
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=)
|
rs186136373
|
0.00010
|
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=)
|
rs192003514
|
0.00009
|
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser)
|
rs369127299
|
0.00008
|
NM_024596.5(MCPH1):c.671A>G (p.Asp224Gly)
|
rs770989341
|
0.00006
|
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=)
|
rs201026769
|
0.00004
|
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser)
|
rs189380942
|
0.00003
|
NM_024596.5(MCPH1):c.23-12T>C
|
rs578064307
|
0.00003
|
NM_024596.5(MCPH1):c.1104G>A (p.Lys368=)
|
rs548110255
|
0.00001
|
NM_024596.5(MCPH1):c.1358C>T (p.Thr453Ile)
|
rs543390693
|
0.00001
|
NM_024596.5(MCPH1):c.444T>G (p.Asp148Glu)
|
rs200828507
|
0.00001
|
GRCh37/hg19 8p23.1(chr8:6454559-6488921)x1
|
|
|
NC_000008.11:g.6406552G>T
|
rs2916655
|
|
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys)
|
rs202004426
|
|
NM_024596.5(MCPH1):c.1616A>G (p.Asp539Gly)
|
rs587783734
|
|
NM_024596.5(MCPH1):c.1644C>T (p.Ser548=)
|
|
|
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg)
|
rs115033462
|
|
NM_024596.5(MCPH1):c.1974-11del
|
|
|
NM_024596.5(MCPH1):c.1974-236A>G
|
rs13248420
|
|
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=)
|
rs35999761
|
|
NM_024596.5(MCPH1):c.2282C>A (p.Ala761Glu)
|
rs1057090
|
|
NM_024596.5(MCPH1):c.2282C>G (p.Ala761Gly)
|
rs1057090
|
|
NM_024596.5(MCPH1):c.23-159C>G
|
rs112503494
|
|
NM_024596.5(MCPH1):c.233+139A>C
|
rs55687318
|
|
NM_024596.5(MCPH1):c.2453-271C>T
|
rs2433148
|
|
NM_024596.5(MCPH1):c.322-232T>C
|
rs2979642
|
|
NM_024596.5(MCPH1):c.436+105A>G
|
rs2916757
|
|
NM_024596.5(MCPH1):c.437-13dup
|
rs552555248
|
|
NM_024596.5(MCPH1):c.580+21del
|
|
|
NM_024596.5(MCPH1):c.580+285dup
|
rs34298347
|
|
NM_024596.5(MCPH1):c.670+203dup
|
rs34324014
|
|
NM_024596.5(MCPH1):c.90A>G (p.Thr30=)
|
rs139678787
|
|
NM_024596.5(MCPH1):c.9C>T (p.Ala3=)
|
|
|