NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn)
|
rs526433
|
0.99235
|
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu)
|
rs6453373
|
0.91917
|
NM_000038.6(APC):c.5465T>A (p.Val1822Asp)
|
rs459552
|
0.82099
|
NM_182914.3(SYNE2):c.15556C>A (p.Leu5186Met)
|
rs10151658
|
0.56664
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
|
rs1052030
|
0.47208
|
NM_007374.3(SIX6):c.421C>A (p.His141Asn)
|
rs33912345
|
0.45414
|
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu)
|
rs28381984
|
0.38447
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser)
|
rs665278
|
0.17617
|
NM_002633.3(PGM1):c.262A>G (p.Ile88Val)
|
rs855314
|
0.16859
|
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)
|
rs2228500
|
0.16379
|
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly)
|
rs2230028
|
0.15795
|
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser)
|
rs28938169
|
0.15001
|
NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His)
|
rs13374149
|
0.11390
|
NM_014324.6(AMACR):c.717G>T (p.Gln239His)
|
rs34677
|
0.11264
|
NM_000231.3(SGCG):c.347G>A (p.Arg116His)
|
rs17314986
|
0.09986
|
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu)
|
rs2228561
|
0.09897
|
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr)
|
rs1064204
|
0.09043
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln)
|
rs4820889
|
0.05200
|
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)
|
rs62406032
|
0.05010
|
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His)
|
rs12138336
|
0.04915
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410
|
0.04825
|
NM_057176.3(BSND):c.127G>A (p.Val43Ile)
|
rs34561376
|
0.04587
|
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln)
|
rs33950747
|
0.04436
|
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp)
|
rs36027301
|
0.04199
|
NM_014844.5(TECPR2):c.1315C>T (p.Pro439Ser)
|
rs2273906
|
0.04157
|
NM_000037.4(ANK1):c.3973A>G (p.Met1325Val)
|
rs10093583
|
0.04068
|
NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu)
|
rs35761247
|
0.03954
|
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn)
|
rs25414
|
0.03947
|
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu)
|
rs8177536
|
0.03119
|
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr)
|
rs11015859
|
0.02882
|
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)
|
rs117535951
|
0.02765
|
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
|
rs79344818
|
0.02573
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val)
|
rs17883456
|
0.02527
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)
|
rs10040427
|
0.02340
|
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)
|
rs138579182
|
0.02227
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)
|
rs79705698
|
0.02050
|
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala)
|
rs45491898
|
0.01804
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
|
rs17592
|
0.01574
|
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)
|
rs3765571
|
0.01418
|
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile)
|
rs34297805
|
0.01381
|
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile)
|
rs16883930
|
0.01342
|
NM_000174.5(GP9):c.466G>A (p.Ala156Thr)
|
rs3796130
|
0.01277
|
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)
|
rs145184792
|
0.01187
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe)
|
rs6182
|
0.01122
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)
|
rs142522748
|
0.01047
|
NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr)
|
rs191549504
|
0.00927
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser)
|
rs11498198
|
0.00864
|
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)
|
rs34442879
|
0.00790
|
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)
|
rs7766366
|
0.00773
|
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met)
|
rs45478794
|
0.00702
|
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys)
|
rs2307447
|
0.00542
|
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser)
|
rs138031468
|
0.00517
|
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)
|
rs41298747
|
0.00512
|
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr)
|
rs79087668
|
0.00498
|
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)
|
rs117447608
|
0.00497
|
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938
|
0.00470
|
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr)
|
rs79915936
|
0.00444
|
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)
|
rs137853909
|
0.00359
|
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met)
|
rs143873938
|
0.00313
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)
|
rs145895196
|
0.00180
|
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln)
|
rs2075164
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)
|
rs61752387
|
0.00108
|
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769
|
0.00087
|
NM_000169.3(GLA):c.865A>G (p.Ile289Val)
|
rs140329381
|
0.00009
|
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)
|
rs79184941
|
0.00001
|
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg)
|
rs36004306
|
|
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)
|
rs142032413
|
|