NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00964
|
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr)
|
rs151098394
|
0.00465
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)
|
rs116262072
|
0.00392
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_033419.5(PGAP3):c.*559C>T
|
rs183208638
|
0.00300
|
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)
|
rs113298164
|
0.00299
|
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)
|
rs28932472
|
0.00286
|
NM_001384317.1(ZHX3):c.2249A>T (p.Asp750Val)
|
rs147861291
|
0.00270
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)
|
rs28362286
|
0.00262
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)
|
rs115746363
|
0.00243
|
NM_007315.4(STAT1):c.793A>G (p.Ile265Val)
|
rs148775168
|
0.00223
|
NM_004525.3(LRP2):c.11663G>A (p.Arg3888His)
|
rs77686710
|
0.00218
|
NM_003244.4(TGIF1):c.16+1499T>C
|
rs148390122
|
0.00215
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_020759.3(STARD9):c.10480G>A (p.Val3494Ile)
|
rs143444286
|
0.00205
|
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)
|
rs57443665
|
0.00202
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00197
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys)
|
rs34832477
|
0.00166
|
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)
|
rs61747068
|
0.00152
|
NM_001042413.2(GLIS3):c.496C>G (p.Pro166Ala)
|
rs141467694
|
0.00147
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala)
|
rs201210527
|
0.00138
|
NM_194454.3(KRIT1):c.*132T>G
|
rs572414111
|
0.00138
|
NM_194454.3(KRIT1):c.*137del
|
rs543954194
|
0.00138
|
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln)
|
rs111722949
|
0.00135
|
NM_020661.4(AICDA):c.427+4C>T
|
rs201180477
|
0.00130
|
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)
|
rs79179577
|
0.00123
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His)
|
rs143935839
|
0.00119
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)
|
rs147577332
|
0.00118
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_001006658.3(CR2):c.1140G>A (p.Met380Ile)
|
rs147638245
|
0.00116
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
NM_032730.5(RTN4IP1):c.5A>C (p.Glu2Ala)
|
rs138612238
|
0.00110
|
NM_000384.3(APOB):c.7612C>T (p.Leu2538=)
|
rs72653093
|
0.00108
|
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)
|
rs139491925
|
0.00106
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser)
|
rs1800496
|
0.00103
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
NM_001144952.2(SDK2):c.2810G>A (p.Arg937Gln)
|
rs144141099
|
0.00098
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)
|
rs138481453
|
0.00096
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
NM_005883.3(APC2):c.3656C>T (p.Ala1219Val)
|
rs137877386
|
0.00093
|
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)
|
rs199768740
|
0.00087
|
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)
|
rs73464271
|
0.00086
|
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn)
|
rs146471967
|
0.00086
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
NM_001244008.2(KIF1A):c.1208-40G>A
|
rs375833834
|
0.00073
|
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala)
|
rs147309177
|
0.00073
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_152730.6(TBC1D32):c.695G>A (p.Arg232Gln)
|
rs181574808
|
0.00072
|
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)
|
rs120074114
|
0.00071
|
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys)
|
rs143460342
|
0.00071
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_001379500.1(COL18A1):c.107-12210C>G
|
rs201773944
|
0.00068
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
NM_005912.3(MC4R):c.335C>T (p.Thr112Met)
|
rs13447329
|
0.00065
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
NM_004525.3(LRP2):c.4928G>A (p.Arg1643Gln)
|
rs147688332
|
0.00059
|
NM_003705.5(SLC25A12):c.2015del (p.Ala672fs)
|
rs780650245
|
0.00058
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His)
|
rs368075745
|
0.00055
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_022552.5(DNMT3A):c.640-1439G>A
|
rs150451861
|
0.00051
|
NM_000207.3(INS):c.227G>A (p.Ser76Asn)
|
rs139264769
|
0.00050
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
0.00048
|
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)
|
rs147281546
|
0.00047
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)
|
rs147744868
|
0.00046
|
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr)
|
rs369777874
|
0.00045
|
NM_145207.3(AFG2A):c.637G>A (p.Asp213Asn)
|
rs139066705
|
0.00045
|
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu)
|
rs148890852
|
0.00044
|
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His)
|
rs114371269
|
0.00044
|
NM_020987.5(ANK3):c.11678G>C (p.Ser3893Thr)
|
rs12260663
|
0.00044
|
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter)
|
rs104895564
|
0.00044
|
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His)
|
rs200176373
|
0.00043
|
NM_007315.4(STAT1):c.722G>A (p.Arg241Gln)
|
rs146273341
|
0.00042
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp)
|
rs147098410
|
0.00040
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)
|
rs193922584
|
0.00037
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)
|
rs145728297
|
0.00036
|
NM_001080517.3(SETD5):c.2866A>T (p.Thr956Ser)
|
rs201868415
|
0.00035
|
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)
|
rs143264567
|
0.00035
|
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)
|
rs142542453
|
0.00035
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn)
|
rs58528748
|
0.00032
|
NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=)
|
rs201525976
|
0.00032
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)
|
rs121913563
|
0.00031
|
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)
|
rs115209243
|
0.00031
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_001626.6(AKT2):c.212A>G (p.Asn71Ser)
|
rs200272953
|
0.00028
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_001042413.2(GLIS3):c.1200C>G (p.His400Gln)
|
rs374943049
|
0.00026
|
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser)
|
rs201993443
|
0.00026
|
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)
|
rs188094280
|
0.00026
|
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)
|
rs367930028
|
0.00026
|
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)
|
rs118204057
|
0.00024
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_000744.7(CHRNA4):c.1538G>A (p.Arg513His)
|
rs868845088
|
0.00023
|
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)
|
rs541943893
|
0.00023
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)
|
rs191233787
|
0.00021
|
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)
|
rs373076763
|
0.00021
|
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)
|
rs141065357
|
0.00020
|
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val)
|
rs141638933
|
0.00020
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val)
|
rs142702699
|
0.00019
|
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)
|
rs201312113
|
0.00019
|
NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys)
|
rs754928609
|
0.00019
|
NM_206937.2(LIG4):c.712A>G (p.Ile238Val)
|
rs149012859
|
0.00019
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00017
|
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr)
|
rs533884784
|
0.00017
|
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)
|
rs143441644
|
0.00017
|
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)
|
rs142756262
|
0.00016
|
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)
|
rs201139273
|
0.00016
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
NM_007118.4(TRIO):c.7922A>C (p.Lys2641Thr)
|
rs200539540
|
0.00016
|
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser)
|
rs376756158
|
0.00014
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
NM_001920.5(DCN):c.621T>G (p.Ile207Met)
|
rs373676217
|
0.00014
|
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)
|
rs397515426
|
0.00014
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_006514.4(SCN10A):c.4581G>A (p.Met1527Ile)
|
rs369978695
|
0.00014
|
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn)
|
rs532127028
|
0.00014
|
NM_152564.5(VPS13B):c.3083-8G>A
|
rs201973611
|
0.00014
|
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)
|
rs151193009
|
0.00014
|
NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser)
|
rs761479779
|
0.00013
|
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)
|
rs143815396
|
0.00013
|
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn)
|
rs558814304
|
0.00013
|
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)
|
rs527295360
|
0.00013
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu)
|
rs148502464
|
0.00012
|
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser)
|
rs183855575
|
0.00012
|
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr)
|
rs780170292
|
0.00011
|
NM_001367479.1(DNAH14):c.9698C>T (p.Ala3233Val)
|
rs745928222
|
0.00011
|
NM_001807.6(CEL):c.358G>A (p.Val120Ile)
|
rs201336247
|
0.00011
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)
|
rs200322968
|
0.00011
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_030912.3(TRIM8):c.1456C>G (p.Pro486Ala)
|
rs552806334
|
0.00011
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_000384.3(APOB):c.400G>T (p.Ala134Ser)
|
rs368321279
|
0.00010
|
NM_001148.6(ANK2):c.9116A>G (p.Asp3039Gly)
|
rs140539843
|
0.00010
|
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg)
|
rs368465960
|
0.00010
|
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
NM_145886.4(PIDD1):c.2042-2A>G
|
rs199752248
|
0.00010
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn)
|
rs587778463
|
0.00009
|
NM_015087.5(SPART):c.364_365del (p.Met122fs)
|
rs775736341
|
0.00009
|
NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu)
|
rs200503628
|
0.00009
|
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp)
|
rs573629753
|
0.00009
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_001374828.1(ARID1B):c.1337C>T (p.Ala446Val)
|
rs748273011
|
0.00008
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_013275.6(ANKRD11):c.1360G>A (p.Val454Met)
|
rs149569330
|
0.00008
|
NM_000384.3(APOB):c.2938G>A (p.Ala980Thr)
|
rs369310292
|
0.00007
|
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met)
|
rs200744555
|
0.00007
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter)
|
rs189768576
|
0.00006
|
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val)
|
rs200034452
|
0.00006
|
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp)
|
rs149306841
|
0.00006
|
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter)
|
rs147622852
|
0.00006
|
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter)
|
rs369755459
|
0.00006
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser)
|
rs775566992
|
0.00006
|
NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys)
|
rs369421455
|
0.00006
|
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)
|
rs1003586835
|
0.00006
|
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)
|
rs752140135
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr)
|
rs570782024
|
0.00005
|
NM_000384.3(APOB):c.2657A>G (p.Asn886Ser)
|
rs183398286
|
0.00005
|
NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu)
|
rs185224477
|
0.00005
|
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg)
|
rs372956200
|
0.00005
|
NM_001130438.3(SPTAN1):c.1806+4A>G
|
rs770046688
|
0.00005
|
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr)
|
rs757915171
|
0.00005
|
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr)
|
rs114527197
|
0.00005
|
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)
|
rs143821815
|
0.00005
|
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)
|
rs375038986
|
0.00005
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr)
|
rs376825639
|
0.00004
|
NM_000384.3(APOB):c.3904T>C (p.Phe1302Leu)
|
rs201926213
|
0.00004
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)
|
rs768219929
|
0.00004
|
NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val)
|
rs186508321
|
0.00004
|
NM_001100913.3(PACS2):c.1072C>T (p.Arg358Trp)
|
rs1488845742
|
0.00004
|
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)
|
rs745775887
|
0.00004
|
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln)
|
rs370754278
|
0.00004
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
NM_001953.5(TYMP):c.1160-1G>A
|
rs797044455
|
0.00004
|
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr)
|
rs767232021
|
0.00004
|
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)
|
rs749249146
|
0.00004
|
NM_005045.4(RELN):c.8051G>A (p.Arg2684His)
|
rs201157987
|
0.00004
|
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)
|
rs775780402
|
0.00004
|
NM_019842.4(KCNQ5):c.1312C>G (p.Arg438Gly)
|
rs750114221
|
0.00004
|
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)
|
rs780875110
|
0.00004
|
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)
|
rs375749415
|
0.00004
|
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)
|
rs574641900
|
0.00004
|
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His)
|
rs138171489
|
0.00004
|
NM_000384.3(APOB):c.218C>A (p.Ala73Asp)
|
rs377171241
|
0.00003
|
NM_000384.3(APOB):c.4954A>C (p.Ile1652Leu)
|
rs776008744
|
0.00003
|
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)
|
rs764493597
|
0.00003
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr)
|
rs200889338
|
0.00003
|
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)
|
rs781864075
|
0.00003
|
NM_001148.6(ANK2):c.8417T>C (p.Val2806Ala)
|
rs769091762
|
0.00003
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met)
|
rs565025643
|
0.00003
|
NM_014920.5(CILK1):c.914A>C (p.Lys305Thr)
|
rs765078446
|
0.00003
|
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)
|
rs201476674
|
0.00003
|
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser)
|
rs760985201
|
0.00003
|
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)
|
rs151173406
|
0.00003
|
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro)
|
rs756570347
|
0.00003
|
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)
|
rs1360863995
|
0.00003
|
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)
|
rs149439295
|
0.00003
|
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)
|
rs748186190
|
0.00002
|
NM_000384.3(APOB):c.10114T>G (p.Ser3372Ala)
|
rs138850232
|
0.00002
|
NM_000384.3(APOB):c.1075A>G (p.Ser359Gly)
|
rs757383498
|
0.00002
|
NM_000384.3(APOB):c.2821A>T (p.Thr941Ser)
|
rs748256431
|
0.00002
|
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)
|
rs369776766
|
0.00002
|
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln)
|
rs587778738
|
0.00002
|
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)
|
rs749809456
|
0.00002
|
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)
|
rs370689343
|
0.00002
|
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp)
|
rs748333558
|
0.00002
|
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)
|
rs201757275
|
0.00002
|
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)
|
rs140353201
|
0.00002
|
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)
|
rs782062633
|
0.00001
|
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)
|
rs772226819
|
0.00001
|
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn)
|
rs151163582
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NM_000277.3(PAH):c.842+3G>C
|
rs62507324
|
0.00001
|
NM_000381.4(MID1):c.1279G>A (p.Val427Ile)
|
rs755985917
|
0.00001
|
NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr)
|
rs149357946
|
0.00001
|
NM_000384.3(APOB):c.4366G>A (p.Asp1456Asn)
|
rs147759262
|
0.00001
|
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)
|
rs773209126
|
0.00001
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)
|
rs730882099
|
0.00001
|
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)
|
rs121908040
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn)
|
rs375883030
|
0.00001
|
NM_000844.4(GRM7):c.1973G>A (p.Arg658Gln)
|
rs769709112
|
0.00001
|
NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp)
|
rs1468401006
|
0.00001
|
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter)
|
rs886039821
|
0.00001
|
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)
|
rs989080548
|
0.00001
|
NM_001458.5(FLNC):c.3791-1G>C
|
rs781135153
|
0.00001
|
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe)
|
rs750774484
|
0.00001
|
NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe)
|
rs771209224
|
0.00001
|
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His)
|
rs745599611
|
0.00001
|
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser)
|
rs976882824
|
0.00001
|
NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His)
|
rs1266718915
|
0.00001
|
NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn)
|
rs779260688
|
0.00001
|
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg)
|
rs587778458
|
0.00001
|
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr)
|
rs587783724
|
0.00001
|
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)
|
rs758685548
|
0.00001
|
NM_004035.7(ACOX1):c.538+1G>A
|
rs1466419887
|
0.00001
|
NM_004408.4(DNM1):c.1558-3C>T
|
rs546517702
|
0.00001
|
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr)
|
rs1447311755
|
0.00001
|
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp)
|
rs587777334
|
0.00001
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu)
|
rs748480687
|
0.00001
|
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly)
|
rs779464455
|
0.00001
|
NM_007118.4(TRIO):c.6725C>T (p.Thr2242Met)
|
rs55916212
|
0.00001
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
NM_014009.4(FOXP3):c.200C>T (p.Ser67Leu)
|
rs1382549860
|
0.00001
|
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs)
|
rs1391540245
|
0.00001
|
NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser)
|
rs372521251
|
0.00001
|
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile)
|
rs2041416610
|
0.00001
|
NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp)
|
rs1057522661
|
0.00001
|
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter)
|
rs993687029
|
0.00001
|
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala)
|
rs764518030
|
0.00001
|
NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly)
|
rs776593168
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser)
|
rs1360721056
|
0.00001
|
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)
|
rs121908636
|
0.00001
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)
|
rs780598553
|
0.00001
|
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter)
|
rs1162037663
|
0.00001
|
NC_000014.9:g.87925163_87956828del
|
|
|
NM_000026.4(ADSL):c.1102-6C>G
|
rs758666194
|
|
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro)
|
rs782122122
|
|
NM_000041.4(APOE):c.460C>A (p.Arg154Ser)
|
rs121918393
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)
|
rs1176770868
|
|
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
|
|
|
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)
|
rs887190843
|
|
NM_000128.4(F11):c.1204C>T (p.Gln402Ter)
|
rs1741002305
|
|
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)
|
rs1280320763
|
|
NM_000142.5(FGFR3):c.188C>T (p.Pro63Leu)
|
rs371729802
|
|
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs)
|
rs397508090
|
|
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)
|
rs606231324
|
|
NM_000257.4(MYH7):c.732+1G>A
|
rs730880850
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
NM_000260.4(MYO7A):c.2905-1G>C
|
rs1171417339
|
|
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)
|
rs797044512
|
|
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr)
|
rs62507282
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)
|
rs538778224
|
|
NM_000384.3(APOB):c.10740C>G (p.Asn3580Lys)
|
rs150312765
|
|
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
|
|
|
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
|
|
|
NM_000384.3(APOB):c.4056_4064dup (p.Gly1354_Leu1356dup)
|
rs777844352
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
|
|
NM_000384.3(APOB):c.649C>T (p.Pro217Ser)
|
rs573308525
|
|
NM_000384.3(APOB):c.8045G>T (p.Ser2682Ile)
|
rs375053331
|
|
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
|
|
|
NM_000527.5(LDLR):c.1A>T (p.Met1Leu)
|
rs879254382
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000548.5(TSC2):c.1257+5G>A
|
rs2151157428
|
|
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu)
|
rs45517352
|
|
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys)
|
rs376017665
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_001001331.4(ATP2B2):c.2765C>T (p.Ser922Leu)
|
rs1057520233
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042603.3(KDM5A):c.1726C>T (p.Gln576Ter)
|
rs773333271
|
|
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter)
|
rs1199226176
|
|
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)
|
rs886039472
|
|
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr)
|
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=)
|
rs231399
|
|
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)
|
rs556562410
|
|
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs)
|
rs758683818
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr)
|
rs1555482611
|
|
NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile)
|
rs753223319
|
|
NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln)
|
rs1038557470
|
|
NM_001271.4(CHD2):c.2189+8C>T
|
rs1486555733
|
|
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys)
|
rs2054200789
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala)
|
rs760601613
|
|
NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly)
|
rs751046231
|
|
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val)
|
rs886041670
|
|
NM_001348716.2(KDM6B):c.4737+1G>A
|
rs2151380267
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys)
|
rs121908910
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1])
|
rs767952510
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)
|
rs1562998062
|
|
NM_001482.3(GATM):c.297A>G (p.Thr99=)
|
rs1445305823
|
|
NM_001830.4(CLCN4):c.944G>A (p.Arg315His)
|
rs1374813094
|
|
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)
|
rs146134172
|
|
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)
|
rs150463750
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002468.5(MYD88):c.-24_-6del
|
rs746651350
|
|
NM_002468.5(MYD88):c.103_104del (p.Leu35fs)
|
rs776336832
|
|
NM_002667.5(PLN):c.63_64dup (p.Gln22fs)
|
rs794729138
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)
|
rs767337086
|
|
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)
|
rs1600388982
|
|
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val)
|
rs1943073751
|
|
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala)
|
rs772169265
|
|
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser)
|
rs1291730464
|
|
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)
|
rs34391522
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
NM_004369.4(COL6A3):c.761del (p.Gly254fs)
|
rs780921503
|
|
NM_004380.3(CREBBP):c.3779+1G>C
|
rs587783483
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)
|
rs751575036
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)
|
rs762015967
|
|
NM_005413.4(SIX3):c.749T>C (p.Val250Ala)
|
rs121917880
|
|
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)
|
rs374338349
|
|
NM_006005.3(WFS1):c.578dup (p.Gln194fs)
|
rs779272128
|
|
NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs)
|
rs758487568
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006772.3(SYNGAP1):c.1913+5G>A
|
rs1761021575
|
|
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile)
|
rs768878991
|
|
NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser)
|
rs1038956173
|
|
NM_006895.3(HNMT):c.475del (p.His159fs)
|
rs765863580
|
|
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met)
|
rs2148725999
|
|
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)
|
rs878853282
|
|
NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr)
|
|
|
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg)
|
rs1553252938
|
|
NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter)
|
rs1786845541
|
|
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys)
|
rs1567417422
|
|
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=)
|
rs1805737676
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs)
|
rs199422163
|
|
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter)
|
rs1261895166
|
|
NM_019109.5(ALG1):c.946G>A (p.Val316Ile)
|
rs150272167
|
|
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
|
|
|
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
|
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_020988.3(GNAO1):c.724-8G>A
|
rs1085307876
|
|
NM_024757.5(EHMT1):c.216C>A (p.His72Gln)
|
rs374930132
|
|
NM_025099.6(CTC1):c.248_251dup (p.His84fs)
|
rs745467709
|
|
NM_025114.4(CEP290):c.1624-5T>G
|
rs142742071
|
|
NM_030665.4(RAI1):c.467A>G (p.Gln156Arg)
|
rs977107435
|
|
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs)
|
rs754216321
|
|
NM_032634.4(PIGO):c.2435T>G (p.Leu812Ter)
|
rs746967719
|
|
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)
|
rs1060505041
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly)
|
rs141090506
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)
|
rs786204456
|
|
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)
|
rs759536357
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
|
|
|
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)
|
rs569379713
|
|
NM_177972.3(TUB):c.1215+1G>A
|
rs1589996458
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|
NM_205768.3(ZBTB18):c.1207del (p.Arg403fs)
|
rs2148557361
|
|
Single allele
|
|
|
m.14846G>A
|
rs207459998
|
|
m.4284G>A
|
rs121434468
|
|