NM_015602.4(TOR1AIP1):c.554-4G>A
|
rs2245425
|
0.58997
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
NM_003465.3(CHIT1):c.1049_1072dup (p.Trp358Ter)
|
rs3831317
|
0.16576
|
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr)
|
rs755793
|
0.10553
|
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu)
|
rs61752479
|
0.08857
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_000249.4(MLH1):c.1039-29A>T
|
rs6771325
|
0.03662
|
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser)
|
rs79691946
|
0.03108
|
NM_000295.5(SERPINA1):c.-10T>C
|
rs11558258
|
0.02837
|
NM_001199107.2(TBC1D24):c.1143-6C>T
|
rs73490287
|
0.02047
|
NM_001206744.2(TPO):c.1587A>C (p.Leu529Phe)
|
rs114796303
|
0.01634
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)
|
rs7958709
|
0.01289
|
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)
|
rs41280102
|
0.01003
|
NM_006766.5(KAT6A):c.3577G>A (p.Val1193Ile)
|
rs34620183
|
0.00973
|
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
NM_001330078.2(NRXN1):c.772+1140G>A
|
rs61658382
|
0.00837
|
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu)
|
rs2229761
|
0.00814
|
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser)
|
rs149363094
|
0.00792
|
NM_153460.4(IL17RC):c.1522+1G>C
|
rs148575246
|
0.00763
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_022168.4(IFIH1):c.1641+1G>C
|
rs35337543
|
0.00728
|
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr)
|
rs2501264
|
0.00699
|
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)
|
rs34962745
|
0.00699
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val)
|
rs62642505
|
0.00677
|
NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp)
|
rs114406277
|
0.00629
|
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val)
|
rs184420466
|
0.00604
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
NM_022168.4(IFIH1):c.2807+1G>A
|
rs35732034
|
0.00502
|
NM_001277058.2(ERCC6):c.2249G>A (p.Cys750Tyr)
|
rs115162931
|
0.00494
|
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)
|
rs149637884
|
0.00473
|
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter)
|
rs35064500
|
0.00470
|
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)
|
rs144513453
|
0.00443
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)
|
rs74315344
|
0.00425
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_000081.4(LYST):c.1686G>C (p.Gln562His)
|
rs77091385
|
0.00394
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_006059.4(LAMC3):c.2891-8C>T
|
rs199535979
|
0.00339
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_018122.5(DARS2):c.128-4A>T
|
rs769597479
|
0.00300
|
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr)
|
rs61745524
|
0.00299
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)
|
rs143567667
|
0.00277
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_015409.5(EP400):c.4945G>A (p.Ala1649Thr)
|
rs148749054
|
0.00268
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu)
|
rs201060500
|
0.00216
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_201384.3(PLEC):c.5653G>A (p.Ala1885Thr)
|
rs201070741
|
0.00200
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys)
|
rs34390308
|
0.00170
|
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)
|
rs76726265
|
0.00161
|
NM_000302.4(PLOD1):c.77-3358C>T
|
rs534978828
|
0.00153
|
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu)
|
rs145623359
|
0.00148
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)
|
rs145404396
|
0.00140
|
NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg)
|
rs200667255
|
0.00135
|
NM_001080414.4(CCDC88C):c.4327G>A (p.Ala1443Thr)
|
rs189215037
|
0.00133
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00131
|
NM_014239.4(EIF2B2):c.380C>T (p.Ala127Val)
|
rs150617429
|
0.00127
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)
|
rs146325169
|
0.00114
|
NM_000069.3(CACNA1S):c.3795+3G>A
|
rs191758096
|
0.00113
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
NM_201378.4(PLEC):c.71-11512C>T
|
rs201053471
|
0.00108
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
NM_080911.3(UNG):c.262C>T (p.Arg88Cys)
|
rs151095402
|
0.00090
|
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp)
|
rs80248061
|
0.00089
|
NM_013391.3(DMGDH):c.972G>A (p.Trp324Ter)
|
rs139044238
|
0.00088
|
NM_001042545.2(LTBP4):c.2681-10C>G
|
rs200914063
|
0.00084
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile)
|
rs151213445
|
0.00078
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)
|
rs199794705
|
0.00069
|
NM_001035235.4(SRA1):c.500T>C (p.Ile167Thr)
|
rs148108594
|
0.00066
|
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys)
|
rs138232280
|
0.00063
|
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile)
|
rs149346064
|
0.00061
|
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr)
|
rs150016098
|
0.00061
|
NM_016356.5(DCDC2):c.817C>T (p.Pro273Ser)
|
rs146787541
|
0.00061
|
NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp)
|
rs146350208
|
0.00060
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_024678.6(NARS2):c.1082A>G (p.Asn361Ser)
|
rs150355410
|
0.00054
|
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)
|
rs200585528
|
0.00051
|
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn)
|
rs143290224
|
0.00051
|
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)
|
rs139287784
|
0.00049
|
NM_145207.3(AFG2A):c.1622C>G (p.Pro541Arg)
|
rs143957561
|
0.00049
|
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
|
rs776989258
|
0.00047
|
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)
|
rs201733876
|
0.00042
|
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val)
|
rs143408155
|
0.00041
|
NM_001099922.3(ALG13):c.2248-15G>C
|
rs139711892
|
0.00039
|
NM_000203.5(IDUA):c.299+988C>T
|
rs142262555
|
0.00037
|
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His)
|
rs115066564
|
0.00036
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp)
|
rs148340413
|
0.00035
|
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)
|
rs142777869
|
0.00034
|
NM_001161352.2(KCNMA1):c.2267-4486C>T
|
rs188354139
|
0.00032
|
NM_001457.4(FLNB):c.4061+4G>A
|
rs370061963
|
0.00032
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)
|
rs773033563
|
0.00028
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)
|
rs552651651
|
0.00025
|
NM_005419.4(STAT2):c.250C>A (p.Gln84Lys)
|
rs150901100
|
0.00024
|
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp)
|
rs149071920
|
0.00024
|
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)
|
rs145293873
|
0.00021
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
NM_001292063.2(OTOG):c.3751G>A (p.Gly1251Ser)
|
rs769211682
|
0.00020
|
NM_144585.4(SLC22A12):c.1400C>T (p.Thr467Met)
|
rs200104135
|
0.00019
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)
|
rs372750707
|
0.00017
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)
|
rs28929488
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)
|
rs200719359
|
0.00014
|
NM_053025.4(MYLK):c.3112A>G (p.Met1038Val)
|
rs763247566
|
0.00012
|
NM_006785.4(MALT1):c.1282G>A (p.Val428Ile)
|
rs140664950
|
0.00011
|
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr)
|
rs201180985
|
0.00010
|
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu)
|
rs151253841
|
0.00010
|
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)
|
rs369641941
|
0.00009
|
NM_012452.3(TNFRSF13B):c.577T>C (p.Cys193Arg)
|
rs764125338
|
0.00009
|
NM_182919.4(TICAM1):c.1774G>A (p.Gly592Arg)
|
rs74359855
|
0.00009
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys)
|
rs199473339
|
0.00007
|
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)
|
rs199870223
|
0.00007
|
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)
|
rs201101621
|
0.00007
|
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)
|
rs121918634
|
0.00006
|
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg)
|
rs547441862
|
0.00006
|
NM_004946.3(DOCK2):c.2704-3C>T
|
rs144101028
|
0.00006
|
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val)
|
rs371846002
|
0.00006
|
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)
|
rs756975501
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
NM_001100913.3(PACS2):c.1269-4A>G
|
rs376690008
|
0.00005
|
NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val)
|
rs748538823
|
0.00005
|
NM_001737.5(C9):c.460C>T (p.Arg154Ter)
|
rs144138616
|
0.00005
|
NM_004827.3(ABCG2):c.791_792del (p.Leu264fs)
|
rs387906870
|
0.00005
|
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)
|
rs567600444
|
0.00004
|
NM_005458.8(GABBR2):c.613G>A (p.Val205Ile)
|
rs146801036
|
0.00004
|
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys)
|
rs142459706
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys)
|
rs745870321
|
0.00003
|
NM_003791.4(MBTPS1):c.1658C>T (p.Ser553Leu)
|
rs553862782
|
0.00003
|
NM_004369.4(COL6A3):c.2497+9C>A
|
rs774198344
|
0.00003
|
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe)
|
rs368859659
|
0.00003
|
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)
|
rs549182297
|
0.00003
|
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)
|
rs547184348
|
0.00003
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
NM_198053.3(CD247):c.58+8C>T
|
rs201494226
|
0.00003
|
NM_000038.6(APC):c.7781C>G (p.Ser2594Cys)
|
rs543396310
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000426.4(LAMA2):c.4456G>A (p.Ala1486Thr)
|
rs372576669
|
0.00002
|
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)
|
rs763006761
|
0.00002
|
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser)
|
rs111033240
|
0.00002
|
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)
|
rs72551349
|
0.00002
|
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln)
|
rs375182306
|
0.00002
|
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg)
|
rs576402053
|
0.00002
|
NM_000081.4(LYST):c.2724C>T (p.Cys908=)
|
rs201440611
|
0.00001
|
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)
|
rs199472694
|
0.00001
|
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)
|
rs752961445
|
0.00001
|
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser)
|
rs577767034
|
0.00001
|
NM_001134407.3(GRIN2A):c.77C>T (p.Ala26Val)
|
rs765986049
|
0.00001
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)
|
rs768701595
|
0.00001
|
NM_001277115.2(DNAH11):c.4491G>A (p.Glu1497=)
|
rs564202359
|
0.00001
|
NM_001289125.3(IFNAR2):c.437A>G (p.Asn146Ser)
|
rs549962048
|
0.00001
|
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)
|
rs761622153
|
0.00001
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile)
|
rs949598599
|
0.00001
|
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro)
|
rs772944531
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_015178.3(RHOBTB2):c.508C>T (p.Pro170Ser)
|
rs761440038
|
0.00001
|
NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp)
|
rs200670286
|
0.00001
|
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)
|
rs1064794819
|
0.00001
|
NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp)
|
rs879253769
|
0.00001
|
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)
|
rs971610277
|
0.00001
|
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=)
|
rs866899109
|
0.00001
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000081.4(LYST):c.5634+11A>G
|
|
|
NM_000111.3(SLC26A3):c.1306C>T (p.Gln436Ter)
|
rs386833448
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000287.4(PEX6):c.855C>A (p.Pro285=)
|
rs757897959
|
|
NM_000330.4(RS1):c.52+3A>G
|
rs2147209764
|
|
NM_000350.3(ABCA4):c.3639CCA[1] (p.His1215del)
|
rs1570367398
|
|
NM_000428.3(LTBP2):c.4978G>T (p.Gly1660Trp)
|
rs147223742
|
|
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala)
|
rs1057520369
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)
|
rs199476375
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla)
|
rs775568984
|
|
NM_000814.6(GABRB3):c.756G>A (p.Met252Ile)
|
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del)
|
rs11498192
|
|
NM_001035.3(RYR2):c.11092-11dup
|
rs397516499
|
|
NM_001042492.3(NF1):c.2410-12T>G
|
rs876657932
|
|
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup)
|
rs587783744
|
|
NM_001130438.3(SPTAN1):c.3215+15_3215+16del
|
rs551595039
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro)
|
rs1977160529
|
|
NM_001232.4(CASQ2):c.738-7_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.738-8_738-5del
|
rs56889721
|
|
NM_001349338.3(FOXP1):c.1652+5G>A
|
rs794727216
|
|
NM_001353921.2(ARHGEF9):c.1497T>G (p.Phe499Leu)
|
rs2147114173
|
|
NM_001354768.3(NRL):c.339C>G (p.Tyr113Ter)
|
rs1566560531
|
|
NM_001364905.1(LRBA):c.3805C>G (p.Pro1269Ala)
|
rs555169864
|
|
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)
|
rs2066845
|
|
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del)
|
rs10560189
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del)
|
rs606231461
|
|
NM_001384732.1(CPLANE1):c.8959-2A>G
|
|
|
NM_001385641.1(SAMD11):c.1336G>A (p.Ala446Thr)
|
rs571654307
|
|
NM_001807.6(CEL):c.337C>T (p.Gln113Ter)
|
rs1200339761
|
|
NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del)
|
rs60216939
|
|
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
|
rs1225532037
|
|
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)
|
rs397507531
|
|
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer)
|
rs113614842
|
|
NM_003470.3(USP7):c.2596C>T (p.Gln866Ter)
|
rs2141167019
|
|
NM_004113.6(FGF12):c.155G>A (p.Arg52His)
|
rs886039903
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)
|
rs143092783
|
|
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)
|
rs727504743
|
|
NM_005222.4(DLX6):c.81GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln37_Gln44dup)
|
rs775320932
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu)
|
rs138681270
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs)
|
rs769917456
|
|
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln)
|
rs146221263
|
|
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys)
|
rs140955110
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT
|
rs879243445
|
|
NM_006208.3(ENPP1):c.313+9GT[20]
|
rs59956343
|
|
NM_007009.3(ZPBP):c.50G>C (p.Arg17Pro)
|
rs202231065
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)
|
rs515726210
|
|
NM_022437.3(ABCG8):c.965-1G>C
|
rs957176669
|
|
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter)
|
rs1577029680
|
|
NM_030632.3(ASXL3):c.6078_6083del (p.Pro2027_Pro2028del)
|
rs1235588816
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
NM_031924.8(RSPH3):c.-260dup
|
rs751193355
|
|
NM_052867.4(NALCN):c.4104-19dup
|
rs113354194
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_138554.5(TLR4):c.526_544del (p.Asn176fs)
|
rs749154041
|
|
NM_138927.4(SON):c.5943_5963del (p.1957SRTPSRR[5])
|
rs766784590
|
|
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter)
|
rs781361326
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_147188.3(FBXO22):c.159_162del (p.Arg53fs)
|
rs2141698833
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_178012.5(TUBB2B):c.743C>T (p.Ala248Val)
|
rs777598117
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|
NR_178195.1(LFNG):n.265_268GATG[8]
|
rs34637446
|
|
UGT1A1*28
|
rs3064744
|
|