NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)
|
rs2515569
|
0.99154
|
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.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.513= (p.Arg171=)
|
rs2442513
|
0.07742
|
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.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.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.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.2466G>A (p.Gln822=)
|
rs35614690
|
0.00169
|
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.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.1480G>A (p.Ala494Thr)
|
rs183880522
|
0.00060
|
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.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.1214T>C (p.Leu405Pro)
|
rs556803400
|
0.00022
|
NM_024596.5(MCPH1):c.1742A>G (p.Glu581Gly)
|
rs35402812
|
0.00022
|
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.2499G>T (p.Leu833Phe)
|
rs34009706
|
0.00016
|
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.2274C>T (p.Asp758=)
|
rs186136373
|
0.00010
|
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=)
|
rs192003514
|
0.00009
|
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.1869_1870del (p.Ser623_Cys624insTer)
|
rs587783735
|
0.00004
|
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser)
|
rs189380942
|
0.00003
|
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.2136G>T (p.Trp712Cys)
|
rs778229284
|
0.00002
|
NM_024596.5(MCPH1):c.1936-10A>G
|
rs587783736
|
0.00001
|
NM_024596.5(MCPH1):c.898A>G (p.Ile300Val)
|
rs587783743
|
0.00001
|
NM_024596.5(MCPH1):c.1163G>A (p.Cys388Tyr)
|
rs758015103
|
|
NM_024596.5(MCPH1):c.1188C>A (p.His396Gln)
|
rs570511077
|
|
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.1616A>G (p.Asp539Gly)
|
rs587783734
|
|
NM_024596.5(MCPH1):c.1806A>C (p.Leu602Phe)
|
rs34418490
|
|
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs)
|
rs1554496609
|
|
NM_024596.5(MCPH1):c.22+2_22+4del
|
rs1554471681
|
|
NM_024596.5(MCPH1):c.2256C>G (p.Arg752=)
|
rs35999761
|
|
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=)
|
rs35999761
|
|
NM_024596.5(MCPH1):c.2257G>C (p.Gly753Arg)
|
rs587783737
|
|
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.2288T>C (p.Phe763Ser)
|
rs587783738
|
|
NM_024596.5(MCPH1):c.2429A>G (p.Tyr810Cys)
|
rs35013679
|
|
NM_024596.5(MCPH1):c.2452+49C>G
|
rs41306051
|
|
NM_024596.5(MCPH1):c.2453-1G>C
|
rs587783739
|
|
NM_024596.5(MCPH1):c.2477G>T (p.Cys826Phe)
|
rs1554492950
|
|
NM_024596.5(MCPH1):c.2487A>C (p.Glu829Asp)
|
rs587783740
|
|
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu)
|
rs587783741
|
|
NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr)
|
rs2290145
|
|
NM_024596.5(MCPH1):c.40G>A (p.Glu14Lys)
|
rs2129550760
|
|
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.614C>T (p.Pro205Leu)
|
rs587783742
|
|
NM_024596.5(MCPH1):c.670+31G>A
|
rs2922827
|
|