NM_017848.6(FAM120C):c.2427+5G>T
|
rs2495797
|
0.99864
|
NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu)
|
rs28522910
|
0.69466
|
NM_006744.4(RBP4):c.355+123T>G
|
rs36014035
|
0.39641
|
NM_000140.5(FECH):c.68-23C>T
|
rs2269219
|
0.27629
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg)
|
rs351855
|
0.26099
|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131
|
0.25830
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr)
|
rs1799999
|
0.16138
|
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)
|
rs429358
|
0.16059
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
NM_000251.3(MSH2):c.2006-6T>C
|
rs2303428
|
0.08349
|
NM_016335.6(PRODH):c.1292G>A (p.Arg431His)
|
rs2904552
|
0.06735
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_022489.4(INF2):c.-10G>A
|
rs115602636
|
0.05904
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)
|
rs56142141
|
0.03191
|
NM_000260.4(MYO7A):c.468C>T (p.Ile156=)
|
rs12420129
|
0.03116
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
|
rs35077384
|
0.02717
|
NM_000271.5(NPC1):c.1947+17T>G
|
rs879174633
|
0.02464
|
NM_000083.3(CLCN1):c.2284+5C>T
|
rs74824159
|
0.01735
|
NM_182480.3(COQ6):c.41G>A (p.Trp14Ter)
|
rs17094161
|
0.01687
|
NM_001008212.2(OPTN):c.1242+327C>T
|
rs368712790
|
0.01108
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_182977.3(NNT):c.1098+17T>C
|
rs16873430
|
0.01000
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
NM_001379029.1(CERT1):c.-168C>G
|
rs5744540
|
0.00961
|
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr)
|
rs138421850
|
0.00928
|
NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys)
|
rs35302908
|
0.00884
|
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg)
|
rs2276973
|
0.00877
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)
|
rs2229558
|
0.00834
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_176811.2(NLRP8):c.142G>A (p.Val48Met)
|
rs61738689
|
0.00793
|
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)
|
rs77351975
|
0.00719
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_001009999.3(KDM1A):c.136G>A (p.Gly46Ser)
|
rs144822945
|
0.00607
|
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg)
|
rs139415849
|
0.00597
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_022787.4(NMNAT1):c.115+3A>G
|
rs181504239
|
0.00447
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu)
|
rs149910292
|
0.00372
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile)
|
rs76675748
|
0.00361
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln)
|
rs75398746
|
0.00354
|
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg)
|
rs144922627
|
0.00332
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)
|
rs2229194
|
0.00305
|
NM_005243.4(EWSR1):c.582-9C>G
|
rs189387468
|
0.00302
|
NM_002427.4(MMP13):c.799+7C>T
|
rs72987505
|
0.00298
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)
|
rs2904551
|
0.00282
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)
|
rs76440173
|
0.00267
|
NM_004456.5(EZH2):c.484+13C>T
|
rs140616632
|
0.00261
|
NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val)
|
rs201715229
|
0.00258
|
NM_173728.4(ARHGEF15):c.1250G>T (p.Arg417Leu)
|
rs142119277
|
0.00258
|
NM_001256545.2(MEGF10):c.218+17C>G
|
rs72786483
|
0.00257
|
NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg)
|
rs144778786
|
0.00252
|
NM_001276480.1(LONP1):c.-160+1G>A
|
rs112324623
|
0.00240
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu)
|
rs77513082
|
0.00232
|
NM_000092.5(COL4A4):c.4217-15T>C
|
rs200926310
|
0.00228
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr)
|
rs189960510
|
0.00215
|
NM_002047.4(GARS1):c.1031+14T>G
|
rs189589556
|
0.00213
|
NM_014946.4(SPAST):c.1493+18G>T
|
rs189961829
|
0.00213
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836
|
0.00206
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln)
|
rs150374940
|
0.00202
|
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala)
|
rs145043138
|
0.00200
|
NM_000041.4(APOE):c.137T>C (p.Leu46Pro)
|
rs769452
|
0.00199
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)
|
rs140926412
|
0.00188
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_005051.3(QARS1):c.117+17C>T
|
rs202012811
|
0.00167
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_006208.3(ENPP1):c.313+11_313+15del
|
rs771304080
|
0.00163
|
NM_015466.4(PTPN23):c.1209G>A (p.Leu403=)
|
rs138754006
|
0.00163
|
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)
|
rs112884419
|
0.00161
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)
|
rs200037070
|
0.00145
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_020987.5(ANK3):c.1492-12C>A
|
rs41283530
|
0.00138
|
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met)
|
rs145080512
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val)
|
rs192426710
|
0.00128
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser)
|
rs28928909
|
0.00121
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_001845.6(COL4A1):c.904-9C>T
|
rs201481886
|
0.00116
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_001378183.1(PIEZO2):c.7969G>A (p.Ala2657Thr)
|
rs147666072
|
0.00109
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val)
|
rs188762916
|
0.00109
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)
|
rs141542003
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp)
|
rs145208009
|
0.00101
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00099
|
NM_198578.4(LRRK2):c.3777+7C>T
|
rs41286480
|
0.00097
|
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
|
rs139582106
|
0.00096
|
NM_004217.4(AURKB):c.634G>C (p.Gly212Arg)
|
rs149651741
|
0.00096
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
|
rs146170087
|
0.00094
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
NM_005529.7(HSPG2):c.958+14G>A
|
rs200930800
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_015072.5(TTLL5):c.1226G>A (p.Arg409Gln)
|
rs142465256
|
0.00090
|
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)
|
rs74315329
|
0.00089
|
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)
|
rs111619594
|
0.00089
|
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg)
|
rs144517772
|
0.00088
|
NM_016953.4(PDE11A):c.1655T>C (p.Ile552Thr)
|
rs138427178
|
0.00086
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_194318.4(B3GLCT):c.660+1G>A
|
rs80338851
|
0.00083
|
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)
|
rs71428908
|
0.00081
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
|
rs114368325
|
0.00079
|
NM_001145128.3(AK9):c.1254+19G>A
|
rs113588284
|
0.00079
|
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)
|
rs145833100
|
0.00079
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
NM_004984.4(KIF5A):c.2199-4G>A
|
rs201366820
|
0.00077
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000428.3(LTBP2):c.1796C>T (p.Pro599Leu)
|
rs139018077
|
0.00072
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_002471.4(MYH6):c.2807C>T (p.Ala936Val)
|
rs199838024
|
0.00067
|
NM_174878.3(CLRN1):c.433+1061A>T
|
rs567709615
|
0.00067
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala)
|
rs141878785
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)
|
rs149782619
|
0.00064
|
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)
|
rs138218277
|
0.00064
|
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu)
|
rs12714097
|
0.00063
|
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp)
|
rs55916864
|
0.00063
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
NM_001128164.2(ATXN1):c.609G>T (p.Gln203His)
|
rs199744696
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_001776.6(ENTPD1):c.25G>A (p.Val9Met)
|
rs150772804
|
0.00059
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)
|
rs201431517
|
0.00058
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)
|
rs376283361
|
0.00057
|
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val)
|
rs149707354
|
0.00056
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
0.00056
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
NM_000532.5(PCCB):c.763+10C>G
|
rs180982841
|
0.00054
|
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg)
|
rs146395020
|
0.00054
|
NM_014712.3(SETD1A):c.4169G>A (p.Arg1390Gln)
|
rs779334694
|
0.00054
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000484.3(APP):c.-199G>A
|
rs761755102
|
0.00051
|
NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln)
|
rs140196819
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_001184.4(ATR):c.4641+15C>T
|
rs200619976
|
0.00050
|
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)
|
rs150785666
|
0.00050
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)
|
rs751749989
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_001122769.3(LCA5):c.2006G>T (p.Arg669Met)
|
rs371733166
|
0.00045
|
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)
|
rs139644798
|
0.00044
|
NM_003620.4(PPM1D):c.1405A>G (p.Lys469Glu)
|
rs61756416
|
0.00044
|
NM_004006.3(DMD):c.5586+9G>A
|
rs200025478
|
0.00044
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)
|
rs141551053
|
0.00043
|
NM_001846.4(COL4A2):c.1412G>A (p.Arg471His)
|
rs372173405
|
0.00042
|
NM_003482.4(KMT2D):c.14643+12G>A
|
rs186670730
|
0.00042
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe)
|
rs200732690
|
0.00041
|
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)
|
rs150452237
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val)
|
rs138594222
|
0.00040
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)
|
rs141386891
|
0.00036
|
NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs)
|
rs781490139
|
0.00036
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
NM_000503.6(EYA1):c.35G>A (p.Arg12His)
|
rs74720958
|
0.00035
|
NM_006269.2(RP1):c.5375C>G (p.Ala1792Gly)
|
rs780301238
|
0.00035
|
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)
|
rs575642464
|
0.00035
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr)
|
rs143880787
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_018122.5(DARS2):c.492+2T>C
|
rs142433332
|
0.00034
|
NM_000059.4(BRCA2):c.10095_10096insT (p.Ser3366Ter)
|
rs730881599
|
0.00033
|
NM_000327.4(ROM1):c.339dup (p.Leu114fs)
|
rs71458427
|
0.00033
|
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)
|
rs61748532
|
0.00033
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00033
|
NM_001145128.3(AK9):c.1254+12A>T
|
rs79604737
|
0.00033
|
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu)
|
rs148832260
|
0.00032
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln)
|
rs148099152
|
0.00031
|
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe)
|
rs148150960
|
0.00031
|
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)
|
rs146925098
|
0.00031
|
NM_015978.3(TNNI3K):c.2157dup (p.Glu720fs)
|
rs754423974
|
0.00031
|
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln)
|
rs145045986
|
0.00031
|
NM_198173.3(GRHL3):c.205-3C>A
|
rs200425622
|
0.00031
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val)
|
rs202187148
|
0.00030
|
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp)
|
rs72653760
|
0.00030
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_014491.4(FOXP2):c.1266+8C>T
|
rs139649711
|
0.00030
|
NM_017780.4(CHD7):c.2831G>A (p.Arg944His)
|
rs117506164
|
0.00030
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)
|
rs374500158
|
0.00029
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile)
|
rs63751325
|
0.00029
|
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)
|
rs201804005
|
0.00029
|
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)
|
rs398122391
|
0.00029
|
NM_003070.5(SMARCA2):c.4595-7G>C
|
rs199897032
|
0.00029
|
NM_005045.4(RELN):c.8843+3A>C
|
rs200124755
|
0.00029
|
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)
|
rs104894493
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)
|
rs142304137
|
0.00029
|
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr)
|
rs561197163
|
0.00029
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_007294.4(BRCA1):c.548-17G>T
|
rs80358014
|
0.00028
|
NM_012123.4(MTO1):c.1430G>A (p.Arg477His)
|
rs201544686
|
0.00028
|
NM_014159.7(SETD2):c.4918-20G>C
|
rs375933330
|
0.00028
|
NM_147127.5(EVC2):c.2416G>A (p.Val806Met)
|
rs138128087
|
0.00028
|
NM_000098.3(CPT2):c.236A>C (p.Lys79Thr)
|
rs150888506
|
0.00027
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)
|
rs56679084
|
0.00027
|
NM_198578.4(LRRK2):c.4536+3A>G
|
rs41286476
|
0.00027
|
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)
|
rs536177240
|
0.00026
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn)
|
rs138379977
|
0.00026
|
NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp)
|
rs536586062
|
0.00026
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_002156.5(HSPD1):c.1681A>G (p.Met561Val)
|
rs371969794
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)
|
rs767503038
|
0.00026
|
NM_014845.6(FIG4):c.1751-16A>G
|
rs200778905
|
0.00026
|
NM_015488.5(PNKD):c.237-16514T>A
|
rs776565425
|
0.00026
|
NM_024422.6(DSC2):c.631-13dup
|
rs551337657
|
0.00026
|
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)
|
rs370633684
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)
|
rs138326802
|
0.00026
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00025
|
NM_198578.4(LRRK2):c.7067C>T (p.Thr2356Ile)
|
rs113511708
|
0.00025
|
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)
|
rs72549380
|
0.00024
|
NM_000163.5(GHR):c.718T>C (p.Tyr240His)
|
rs143814221
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00024
|
NM_001626.6(AKT2):c.961-13C>T
|
rs367671463
|
0.00024
|
NM_002472.3(MYH8):c.3320del (p.Leu1107fs)
|
rs751871946
|
0.00024
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
NM_014630.3(ZNF592):c.2009C>T (p.Thr670Met)
|
rs139025399
|
0.00024
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_152722.5(HEPACAM):c.1198G>A (p.Val400Met)
|
rs770477104
|
0.00024
|
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
|
rs137852849
|
0.00024
|
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)
|
rs587782484
|
0.00023
|
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)
|
rs1801269
|
0.00022
|
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)
|
rs376823382
|
0.00022
|
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)
|
rs138978909
|
0.00022
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg)
|
rs200720523
|
0.00022
|
NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys)
|
rs201827489
|
0.00022
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000406.3(GNRHR):c.416G>A (p.Arg139His)
|
rs104893842
|
0.00021
|
NM_001034116.2(EIF2B4):c.398_406del (p.Thr133_Glu136delinsLys)
|
rs769575268
|
0.00021
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_053013.4(ENO3):c.115G>A (p.Ala39Thr)
|
rs141103742
|
0.00021
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)
|
rs376103091
|
0.00020
|
NM_001102564.3(IFT43):c.296-5602T>C
|
rs141114765
|
0.00020
|
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)
|
rs202214380
|
0.00020
|
NM_005120.3(MED12):c.934G>C (p.Val312Leu)
|
rs377403264
|
0.00020
|
NM_172364.5(CACNA2D4):c.1216G>A (p.Gly406Ser)
|
rs375148197
|
0.00020
|
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His)
|
rs574482100
|
0.00020
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)
|
rs146786552
|
0.00019
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00019
|
NM_173076.3(ABCA12):c.7715A>G (p.Tyr2572Cys)
|
rs199846944
|
0.00019
|
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys)
|
rs121912767
|
0.00018
|
NM_002234.4(KCNA5):c.1703G>T (p.Gly568Val)
|
rs71581017
|
0.00018
|
NM_181303.2(NLGN3):c.913+11C>G
|
rs202038845
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg)
|
rs749291211
|
0.00017
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
NM_005142.3(CBLIF):c.79+1G>A
|
rs147785187
|
0.00017
|
NM_022153.2(VSIR):c.694C>T (p.Arg232Trp)
|
rs143020453
|
0.00017
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)
|
rs138924661
|
0.00016
|
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)
|
rs201044262
|
0.00016
|
NM_006059.4(LAMC3):c.538C>T (p.Arg180Cys)
|
rs146609763
|
0.00016
|
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=)
|
rs146942382
|
0.00016
|
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met)
|
rs139024319
|
0.00016
|
NM_024757.5(EHMT1):c.85+9G>A
|
rs566701810
|
0.00016
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_002024.6(FMR1):c.818A>G (p.Lys273Arg)
|
rs139029212
|
0.00015
|
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
NM_003995.4(NPR2):c.2644G>A (p.Val882Ile)
|
rs55700371
|
0.00015
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
0.00015
|
NM_014712.3(SETD1A):c.3358+5G>A
|
rs374206451
|
0.00015
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His)
|
rs200410163
|
0.00015
|
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
|
rs375014127
|
0.00015
|
NM_000157.4(GBA1):c.1279G>A (p.Glu427Lys)
|
rs149171124
|
0.00014
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_000459.5(TEK):c.2773G>A (p.Ala925Thr)
|
rs138463877
|
0.00014
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)
|
rs199766569
|
0.00014
|
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val)
|
rs200169573
|
0.00014
|
NM_003705.5(SLC25A12):c.1171+17C>G
|
rs370591049
|
0.00014
|
NM_015215.4(CAMTA1):c.806-11G>A
|
rs200922493
|
0.00014
|
NM_024009.3(GJB3):c.79G>A (p.Val27Met)
|
rs775072109
|
0.00014
|
NM_173076.3(ABCA12):c.1376G>C (p.Ser459Thr)
|
rs113112835
|
0.00014
|
NM_201384.3(PLEC):c.11394G>A (p.Arg3798=)
|
rs368222729
|
0.00014
|
NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu)
|
rs199651668
|
0.00014
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys)
|
rs370988040
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)
|
rs727504590
|
0.00013
|
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)
|
rs554675432
|
0.00013
|
NM_004958.4(MTOR):c.3452A>G (p.Tyr1151Cys)
|
rs151082401
|
0.00013
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)
|
rs119473033
|
0.00013
|
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys)
|
rs749550071
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000360.4(TH):c.91-868C>T
|
rs148235227
|
0.00012
|
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)
|
rs528213425
|
0.00012
|
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)
|
rs200028088
|
0.00012
|
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)
|
rs375878222
|
0.00012
|
NM_001370658.1(BTD):c.40_41del (p.Gly14fs)
|
rs765906887
|
0.00012
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00012
|
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)
|
rs200311463
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)
|
rs202140413
|
0.00011
|
NM_001267550.2(TTN):c.97193-16T>G
|
rs371317486
|
0.00011
|
NM_001330078.2(NRXN1):c.772+1040A>T
|
rs201741449
|
0.00011
|
NM_001368397.1(FRMPD4):c.1925C>T (p.Ala642Val)
|
rs142025193
|
0.00011
|
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)
|
rs139842853
|
0.00011
|
NM_001384140.1(PCDH15):c.4671+1355A>G
|
rs372184022
|
0.00011
|
NM_002742.3(PRKD1):c.1456G>A (p.Gly486Arg)
|
rs142868862
|
0.00011
|
NM_002834.5(PTPN11):c.1224+15G>A
|
rs373271861
|
0.00011
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
|
rs74315511
|
0.00011
|
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)
|
rs200321595
|
0.00011
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_017866.6(TMEM70):c.317-2A>G
|
rs183973249
|
0.00011
|
NM_018075.5(ANO10):c.223T>A (p.Ser75Thr)
|
rs191413952
|
0.00011
|
NM_018082.6(POLR3B):c.2084-6A>G
|
rs747912710
|
0.00011
|
NM_018699.4(PRDM5):c.1282+9C>T
|
rs79915407
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter)
|
rs200286768
|
0.00011
|
NM_000037.4(ANK1):c.2389-10C>T
|
rs764935260
|
0.00010
|
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)
|
rs368622356
|
0.00010
|
NM_000070.3(CAPN3):c.1524+3G>A
|
rs374188055
|
0.00010
|
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe)
|
rs749895856
|
0.00010
|
NM_000222.3(KIT):c.101C>T (p.Pro34Leu)
|
rs55755457
|
0.00010
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)
|
rs374549843
|
0.00010
|
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)
|
rs138593495
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)
|
rs121912708
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser)
|
rs753744791
|
0.00010
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00010
|
NM_005633.4(SOS1):c.2165G>A (p.Arg722Lys)
|
rs142666652
|
0.00010
|
NM_012330.4(KAT6B):c.4036G>T (p.Asp1346Tyr)
|
rs542036896
|
0.00010
|
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)
|
rs397517270
|
0.00010
|
NM_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala)
|
rs201467037
|
0.00010
|
NM_021120.4(DLG3):c.341G>C (p.Arg114Pro)
|
rs759162614
|
0.00010
|
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu)
|
rs148387972
|
0.00010
|
NM_139276.3(STAT3):c.1233+19C>T
|
rs764434579
|
0.00010
|
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)
|
rs150060240
|
0.00010
|
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)
|
rs374259530
|
0.00009
|
NM_000036.3(AMPD1):c.1388+5G>A
|
rs374144421
|
0.00009
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)
|
rs121912856
|
0.00009
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
0.00009
|
NM_000372.5(TYR):c.325G>A (p.Gly109Arg)
|
rs61753253
|
0.00009
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
NM_000531.6(OTC):c.385C>T (p.Arg129Cys)
|
rs140046498
|
0.00009
|
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys)
|
rs118204421
|
0.00009
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001042492.3(NF1):c.7322-14C>T
|
rs377244887
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001330311.2(DVL1):c.433C>T (p.Arg145Trp)
|
rs142925511
|
0.00009
|
NM_001365536.1(SCN9A):c.2129G>A (p.Cys710Tyr)
|
rs201709980
|
0.00009
|
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu)
|
rs200817435
|
0.00009
|
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val)
|
rs373129508
|
0.00009
|
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val)
|
rs202184162
|
0.00009
|
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val)
|
rs72657933
|
0.00009
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_002905.5(RDH5):c.208C>T (p.Arg70Trp)
|
rs1058635
|
0.00009
|
NM_003193.5(TBCE):c.100+1G>A
|
rs200356271
|
0.00009
|
NM_005591.4(MRE11):c.818C>G (p.Ser273Cys)
|
rs143400546
|
0.00009
|
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp)
|
rs372047256
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_014629.4(ARHGEF10):c.2460C>G (p.Asn820Lys)
|
rs61758704
|
0.00009
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser)
|
rs374205118
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_031475.3(ESPN):c.1025C>T (p.Ser342Phe)
|
rs199502924
|
0.00009
|
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro)
|
rs372174278
|
0.00009
|
NM_145262.4(GLYCTK):c.1313C>T (p.Pro438Leu)
|
rs758823918
|
0.00009
|
NM_152722.5(HEPACAM):c.139G>A (p.Val47Met)
|
rs149730492
|
0.00009
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)
|
rs137854609
|
0.00008
|
NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr)
|
rs61754056
|
0.00008
|
NM_000435.3(NOTCH3):c.3785G>T (p.Arg1262Leu)
|
rs143684274
|
0.00008
|
NM_001374353.1(GLI2):c.2666C>T (p.Pro889Leu)
|
rs759061834
|
0.00008
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_005921.2(MAP3K1):c.1510G>A (p.Glu504Lys)
|
rs764525244
|
0.00008
|
NM_007289.4(MME):c.1342C>T (p.Arg448Ter)
|
rs149905705
|
0.00008
|
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr)
|
rs191985301
|
0.00008
|
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser)
|
rs200589374
|
0.00008
|
NM_201384.3(PLEC):c.4410G>A (p.Gly1470=)
|
rs782222671
|
0.00008
|
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser)
|
rs369781295
|
0.00007
|
NM_000541.5(SAG):c.944+5G>A
|
rs374048703
|
0.00007
|
NM_001171.6(ABCC6):c.2097G>T (p.Glu699Asp)
|
rs72653784
|
0.00007
|
NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr)
|
rs986816548
|
0.00007
|
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)
|
rs104893620
|
0.00007
|
NM_002230.4(JUP):c.526C>T (p.Arg176Trp)
|
rs368336007
|
0.00007
|
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)
|
rs137853150
|
0.00007
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu)
|
rs778899637
|
0.00007
|
NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln)
|
rs200426430
|
0.00007
|
NM_014845.6(FIG4):c.2096G>A (p.Arg699His)
|
rs750091928
|
0.00007
|
NM_018706.7(DHTKD1):c.718-5A>G
|
rs374421488
|
0.00007
|
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs)
|
rs772578397
|
0.00007
|
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)
|
rs200105202
|
0.00007
|
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr)
|
rs139078502
|
0.00007
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
|
rs121908121
|
0.00007
|
NM_000044.6(AR):c.188A>T (p.Gln63Leu)
|
rs62636527
|
0.00006
|
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)
|
rs587778281
|
0.00006
|
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg)
|
rs140638938
|
0.00006
|
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)
|
rs747153540
|
0.00006
|
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)
|
rs756840095
|
0.00006
|
NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)
|
rs1344172059
|
0.00006
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000484.4(APP):c.704C>T (p.Ala235Val)
|
rs139819006
|
0.00006
|
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)
|
rs74315475
|
0.00006
|
NM_000501.4(ELN):c.1150+1G>A
|
rs727503030
|
0.00006
|
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)
|
rs121918619
|
0.00006
|
NM_001015880.2(PAPSS2):c.121C>T (p.Arg41Ter)
|
rs201203612
|
0.00006
|
NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn)
|
rs201284350
|
0.00006
|
NM_001036.6(RYR3):c.3092A>T (p.Lys1031Met)
|
rs753104655
|
0.00006
|
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)
|
rs776962899
|
0.00006
|
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg)
|
rs367835995
|
0.00006
|
NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln)
|
rs149367932
|
0.00006
|
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)
|
rs374434303
|
0.00006
|
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)
|
rs369346315
|
0.00006
|
NM_001365951.3(KIF1B):c.2115+6205C>T
|
rs771399291
|
0.00006
|
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)
|
rs530569572
|
0.00006
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
NM_003332.4(TYROBP):c.94G>A (p.Asp32Asn)
|
rs758290972
|
0.00006
|
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)
|
rs201800225
|
0.00006
|
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer)
|
rs772570880
|
0.00006
|
NM_004606.5(TAF1):c.2257A>G (p.Ile753Val)
|
rs764849779
|
0.00006
|
NM_004793.4(LONP1):c.2014C>T (p.Arg672Cys)
|
rs777009012
|
0.00006
|
NM_005045.4(RELN):c.2002+10T>C
|
rs367840492
|
0.00006
|
NM_005045.4(RELN):c.5480A>G (p.Asn1827Ser)
|
rs374941914
|
0.00006
|
NM_006261.5(PROP1):c.150del (p.Arg53fs)
|
rs587776683
|
0.00006
|
NM_006516.4(SLC2A1):c.19-5C>T
|
rs376653618
|
0.00006
|
NM_007347.5(AP4E1):c.2813A>G (p.Asp938Gly)
|
rs372620158
|
0.00006
|
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)
|
rs375168720
|
0.00006
|
NM_018105.3(THAP1):c.268-159A>G
|
rs1375424771
|
0.00006
|
NM_020638.3(FGF23):c.88C>T (p.Pro30Ser)
|
rs758725402
|
0.00006
|
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu)
|
rs761210350
|
0.00006
|
NM_024120.5(NDUFAF5):c.222+8C>G
|
rs113659919
|
0.00006
|
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
|
rs199633103
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
NM_033100.4(CDHR1):c.1220G>A (p.Arg407Gln)
|
rs201004571
|
0.00006
|
NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His)
|
rs772567850
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)
|
rs202036490
|
0.00006
|
NM_201596.3(CACNB2):c.1206+3A>T
|
rs200174877
|
0.00006
|
NM_201596.3(CACNB2):c.1708C>G (p.Pro570Ala)
|
rs151274272
|
0.00006
|
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)
|
rs370155266
|
0.00006
|
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)
|
rs121917901
|
0.00005
|
NM_000159.4(GCDH):c.335-14C>T
|
rs781650833
|
0.00005
|
NM_000260.4(MYO7A):c.3750+20C>T
|
rs577104822
|
0.00005
|
NM_000278.5(PAX2):c.563A>G (p.Asn188Ser)
|
rs767995614
|
0.00005
|
NM_000360.4(TH):c.110G>A (p.Arg37His)
|
rs368122376
|
0.00005
|
NM_000531.6(OTC):c.1005+11A>T
|
rs375524303
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln)
|
rs146206507
|
0.00005
|
NM_000540.3(RYR1):c.7854G>A (p.Met2618Ile)
|
rs775112172
|
0.00005
|
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser)
|
rs104895288
|
0.00005
|
NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr)
|
rs776039915
|
0.00005
|
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)
|
rs398122967
|
0.00005
|
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)
|
rs376037252
|
0.00005
|
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile)
|
rs201992075
|
0.00005
|
NM_001319074.4(RAX2):c.236G>A (p.Arg79Gln)
|
rs779301810
|
0.00005
|
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val)
|
rs775411387
|
0.00005
|
NM_001457.4(FLNB):c.572C>T (p.Pro191Leu)
|
rs368472521
|
0.00005
|
NM_001927.4(DES):c.1123C>T (p.Arg375Trp)
|
rs375218723
|
0.00005
|
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg)
|
rs765793636
|
0.00005
|
NM_002282.3(KRT83):c.828G>A (p.Met276Ile)
|
rs200274404
|
0.00005
|
NM_004606.5(TAF1):c.5596G>A (p.Asp1866Asn)
|
rs779974166
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_014008.5(CCDC22):c.1388C>G (p.Ala463Gly)
|
rs782691732
|
0.00005
|
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln)
|
rs777992018
|
0.00005
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
NM_020987.5(ANK3):c.13130C>T (p.Ser4377Leu)
|
rs201169886
|
0.00005
|
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met)
|
rs558586992
|
0.00005
|
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)
|
rs769568971
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_033629.6(TREX1):c.1A>G (p.Met1Val)
|
rs761165865
|
0.00005
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys)
|
rs374284011
|
0.00004
|
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)
|
rs767366093
|
0.00004
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000283.4(PDE6B):c.559G>A (p.Val187Met)
|
rs138615156
|
0.00004
|
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)
|
rs137854608
|
0.00004
|
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
|
rs72555392
|
0.00004
|
NM_000465.4(BARD1):c.1678-18C>G
|
rs376045331
|
0.00004
|
NM_000539.3(RHO):c.759G>T (p.Met253Ile)
|
rs756658659
|
0.00004
|
NM_000540.3(RYR1):c.11023G>C (p.Asp3675His)
|
rs145026307
|
0.00004
|
NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu)
|
rs144754091
|
0.00004
|
NM_001042681.2(RERE):c.2422C>A (p.Pro808Thr)
|
rs957128425
|
0.00004
|
NM_001122630.2(CDKN1C):c.-10-7T>C
|
rs201715947
|
0.00004
|
NM_001123385.2(BCOR):c.4202C>T (p.Pro1401Leu)
|
rs201959477
|
0.00004
|
NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met)
|
rs779074538
|
0.00004
|
NM_001127222.2(CACNA1A):c.3989+11T>C
|
rs762686149
|
0.00004
|
NM_001130969.3(NSMF):c.586C>T (p.Arg196Cys)
|
rs776491850
|
0.00004
|
NM_001145809.2(MYH14):c.5105T>C (p.Val1702Ala)
|
rs775130663
|
0.00004
|
NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys)
|
rs562115547
|
0.00004
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)
|
rs72650700
|
0.00004
|
NM_001211.6(BUB1B):c.1382A>C (p.Gln461Pro)
|
rs747886467
|
0.00004
|
NM_001244008.2(KIF1A):c.5105G>A (p.Arg1702His)
|
rs369839651
|
0.00004
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
NM_001349338.3(FOXP1):c.119A>T (p.Glu40Val)
|
rs765070623
|
0.00004
|
NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)
|
rs763122049
|
0.00004
|
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys)
|
rs757850683
|
0.00004
|
NM_001374353.1(GLI2):c.413C>T (p.Thr138Met)
|
rs148317983
|
0.00004
|
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)
|
rs1350329646
|
0.00004
|
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln)
|
rs770896540
|
0.00004
|
NM_001379110.1(SLC9A6):c.15C>G (p.Ile5Met)
|
rs782296172
|
0.00004
|
NM_001429.4(EP300):c.1760+20C>T
|
rs368767822
|
0.00004
|
NM_001457.4(FLNB):c.6164G>A (p.Gly2055Asp)
|
rs375752014
|
0.00004
|
NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met)
|
rs199768217
|
0.00004
|
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys)
|
rs786204291
|
0.00004
|
NM_001953.5(TYMP):c.1160-1G>A
|
rs797044455
|
0.00004
|
NM_002381.5(MATN3):c.868G>A (p.Glu290Lys)
|
rs1027447274
|
0.00004
|
NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln)
|
rs778409451
|
0.00004
|
NM_003907.3(EIF2B5):c.2152T>C (p.Ser718Pro)
|
rs138049080
|
0.00004
|
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs)
|
rs771538008
|
0.00004
|
NM_004278.4(PIGL):c.263G>A (p.Arg88His)
|
rs755380500
|
0.00004
|
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile)
|
rs759041100
|
0.00004
|
NM_006182.4(DDR2):c.1728+6T>C
|
rs759234577
|
0.00004
|
NM_006744.4(RBP4):c.109C>G (p.Arg37Gly)
|
rs759820276
|
0.00004
|
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)
|
rs752941297
|
0.00004
|
NM_006950.3(SYN1):c.435+10G>A
|
rs771547188
|
0.00004
|
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn)
|
rs748399477
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
NM_012469.4(PRPF6):c.2755A>G (p.Ile919Val)
|
rs149771221
|
0.00004
|
NM_014236.4(GNPAT):c.988G>T (p.Asp330Tyr)
|
rs201563848
|
0.00004
|
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
|
rs764992284
|
0.00004
|
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys)
|
rs764799053
|
0.00004
|
NM_015080.4(NRXN2):c.2390-3C>A
|
rs561690501
|
0.00004
|
NM_015466.4(PTPN23):c.2747A>G (p.Gln916Arg)
|
rs770692989
|
0.00004
|
NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met)
|
rs200881888
|
0.00004
|
NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln)
|
rs535739714
|
0.00004
|
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr)
|
rs374401585
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys)
|
rs369587958
|
0.00004
|
NM_023110.3(FGFR1):c.937-14G>A
|
rs779223305
|
0.00004
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu)
|
rs200293888
|
0.00004
|
NM_078480.3(PUF60):c.297+9C>T
|
rs1028726810
|
0.00004
|
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter)
|
rs148430495
|
0.00004
|
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)
|
rs750076188
|
0.00004
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
NM_152564.5(VPS13B):c.3262C>G (p.Pro1088Ala)
|
rs373965494
|
0.00004
|
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser)
|
rs760388350
|
0.00004
|
NM_182914.3(SYNE2):c.10432-17T>G
|
rs376299946
|
0.00004
|
NM_194454.3(KRIT1):c.2102G>A (p.Ser701Asn)
|
rs760437448
|
0.00004
|
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
0.00004
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_000067.3(CA2):c.472A>G (p.Lys158Glu)
|
rs145667849
|
0.00003
|
NM_000094.4(COL7A1):c.2045G>A (p.Arg682Gln)
|
rs772900092
|
0.00003
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)
|
rs377274761
|
0.00003
|
NM_000163.5(GHR):c.1003G>A (p.Glu335Lys)
|
rs199937609
|
0.00003
|
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr)
|
rs779993828
|
0.00003
|
NM_000181.4(GUSB):c.323C>T (p.Pro108Leu)
|
rs1268678201
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000283.4(PDE6B):c.1107+3A>G
|
rs370898371
|
0.00003
|
NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly)
|
rs762213896
|
0.00003
|
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)
|
rs61753029
|
0.00003
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
NM_000481.4(AMT):c.1082C>T (p.Ala361Val)
|
rs757293245
|
0.00003
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser)
|
rs144135230
|
0.00003
|
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg)
|
rs755962512
|
0.00003
|
NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg)
|
rs760873748
|
0.00003
|
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)
|
rs932577597
|
0.00003
|
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser)
|
rs552542784
|
0.00003
|
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)
|
rs104894503
|
0.00003
|
NM_001042681.2(RERE):c.2507C>T (p.Pro836Leu)
|
rs1239182312
|
0.00003
|
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn)
|
rs141229412
|
0.00003
|
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr)
|
rs200889338
|
0.00003
|
NM_001105206.3(LAMA4):c.5254A>G (p.Asn1752Asp)
|
rs371370857
|
0.00003
|
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)
|
rs768048563
|
0.00003
|
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys)
|
rs200531434
|
0.00003
|
NM_001136472.2(LITAF):c.239A>G (p.Tyr80Cys)
|
rs539627278
|
0.00003
|
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)
|
rs397514532
|
0.00003
|
NM_001144967.3(NEDD4L):c.123-23683G>A
|
rs1399115202
|
0.00003
|
NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter)
|
rs1445287184
|
0.00003
|
NM_001163809.2(WDR81):c.4396C>T (p.Arg1466Trp)
|
rs779319855
|
0.00003
|
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala)
|
rs777829351
|
0.00003
|
NM_001267550.2(TTN):c.30395A>G (p.His10132Arg)
|
rs1057518758
|
0.00003
|
NM_001277058.2(ERCC6):c.1696C>T (p.Gln566Ter)
|
rs370101518
|
0.00003
|
NM_001291415.2(KDM6A):c.1677A>C (p.Gln559His)
|
rs763587293
|
0.00003
|
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)
|
rs56208331
|
0.00003
|
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)
|
rs576096758
|
0.00003
|
NM_001371596.2(MFSD8):c.754+2T>A
|
rs587778809
|
0.00003
|
NM_001372.4(DNAH9):c.11666C>G (p.Ser3889Ter)
|
rs1355800948
|
0.00003
|
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)
|
rs1332140763
|
0.00003
|
NM_001374828.1(ARID1B):c.6110G>A (p.Arg2037Gln)
|
rs751391187
|
0.00003
|
NM_001378414.1(HDAC4):c.1984G>A (p.Val662Met)
|
rs775850924
|
0.00003
|
NM_001379500.1(COL18A1):c.929-2A>G
|
rs765919785
|
0.00003
|
NM_001386795.1(DTNA):c.68-7G>A
|
rs372126412
|
0.00003
|
NM_001457.4(FLNB):c.776C>T (p.Ala259Val)
|
rs376619286
|
0.00003
|
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu)
|
rs398123632
|
0.00003
|
NM_001854.4(COL11A1):c.3817-10C>A
|
rs776718424
|
0.00003
|
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu)
|
rs376430455
|
0.00003
|
NM_001931.5(DLAT):c.976-1G>A
|
rs367875541
|
0.00003
|
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys)
|
rs746570981
|
0.00003
|
NM_002303.6(LEPR):c.2221G>A (p.Val741Met)
|
rs532294036
|
0.00003
|
NM_002427.4(MMP13):c.325C>T (p.Arg109Ter)
|
rs369083541
|
0.00003
|
NM_002691.4(POLD1):c.2623C>T (p.Arg875Cys)
|
rs751565067
|
0.00003
|
NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg)
|
rs786205848
|
0.00003
|
NM_003119.4(SPG7):c.182A>G (p.Gln61Arg)
|
rs1306012072
|
0.00003
|
NM_003172.4(SURF1):c.751+5G>A
|
rs781934508
|
0.00003
|
NM_003597.5(KLF11):c.23G>A (p.Gly8Asp)
|
rs1553312826
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs)
|
rs752729755
|
0.00003
|
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)
|
rs786205870
|
0.00003
|
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser)
|
rs200673670
|
0.00003
|
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter)
|
rs202057289
|
0.00003
|
NM_004586.3(RPS6KA3):c.1227+9A>T
|
rs776061198
|
0.00003
|
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly)
|
rs759661460
|
0.00003
|
NM_005422.4(TECTA):c.4802A>G (p.Asn1601Ser)
|
rs758272613
|
0.00003
|
NM_005932.4(MIPEP):c.604C>T (p.Arg202Cys)
|
rs749594049
|
0.00003
|
NM_006005.3(WFS1):c.1467C>G (p.Ile489Met)
|
rs768029820
|
0.00003
|
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)
|
rs374017889
|
0.00003
|
NM_006348.5(COG5):c.1853+8C>A
|
rs774900756
|
0.00003
|
NM_006363.6(SEC23B):c.689+1G>A
|
rs398124226
|
0.00003
|
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp)
|
rs139853969
|
0.00003
|
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)
|
rs80357498
|
0.00003
|
NM_014249.4(NR2E3):c.1001G>A (p.Arg334Gln)
|
rs374483122
|
0.00003
|
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn)
|
rs763799125
|
0.00003
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)
|
rs373145711
|
0.00003
|
NM_015346.4(ZFYVE26):c.7231C>T (p.Arg2411Cys)
|
rs375202089
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs)
|
rs796052056
|
0.00003
|
NM_018418.5(SPATA7):c.373-15A>G
|
rs781587897
|
0.00003
|
NM_019023.5(PRMT7):c.1489C>T (p.Arg497Trp)
|
rs1201730206
|
0.00003
|
NM_020247.5(COQ8A):c.812G>A (p.Arg271His)
|
rs765859566
|
0.00003
|
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)
|
rs769234940
|
0.00003
|
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)
|
rs200956659
|
0.00003
|
NM_021008.4(DEAF1):c.667G>A (p.Gly223Ser)
|
rs1057518811
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)
|
rs561018129
|
0.00003
|
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln)
|
rs765944337
|
0.00003
|
NM_025132.4(WDR19):c.3874T>C (p.Cys1292Arg)
|
rs766752510
|
0.00003
|
NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys)
|
rs377341108
|
0.00003
|
NM_031443.4(CCM2):c.1234C>T (p.Arg412Trp)
|
rs544276945
|
0.00003
|
NM_031475.3(ESPN):c.2150A>G (p.Asn717Ser)
|
rs921702586
|
0.00003
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)
|
rs754982440
|
0.00003
|
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys)
|
rs749063844
|
0.00003
|
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn)
|
rs749491943
|
0.00003
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_144666.3(DNHD1):c.13285C>T (p.Arg4429Ter)
|
rs201400447
|
0.00003
|
NM_152381.6(XIRP2):c.6883C>T (p.Pro2295Ser)
|
rs764391703
|
0.00003
|
NM_172107.4(KCNQ2):c.691-5C>T
|
rs886056921
|
0.00003
|
NM_181882.3(PRX):c.4318G>A (p.Val1440Met)
|
rs138437458
|
0.00003
|
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys)
|
rs527527845
|
0.00003
|
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)
|
rs121908901
|
0.00003
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His)
|
rs119103284
|
0.00003
|
NM_213599.3(ANO5):c.457A>G (p.Ile153Val)
|
rs780988638
|
0.00003
|
NM_000016.6(ACADM):c.244dup (p.Trp82fs)
|
rs786204566
|
0.00002
|
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)
|
rs138058572
|
0.00002
|
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)
|
rs756210458
|
0.00002
|
NM_000044.6(AR):c.1885+3718A>G
|
rs889696386
|
0.00002
|
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)
|
rs587781841
|
0.00002
|
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)
|
rs746235533
|
0.00002
|
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
|
rs201497300
|
0.00002
|
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)
|
rs768090444
|
0.00002
|
NM_000088.4(COL1A1):c.3532-12C>T
|
rs200458986
|
0.00002
|
NM_000093.5(COL5A1):c.57G>A (p.Leu19=)
|
rs761259908
|
0.00002
|
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)
|
rs147040026
|
0.00002
|
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)
|
rs74315442
|
0.00002
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln)
|
rs780993677
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)
|
rs80356483
|
0.00002
|
NM_000180.4(GUCY2D):c.1566+3G>T
|
rs752607737
|
0.00002
|
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
NM_000208.4(INSR):c.1810C>T (p.Arg604Trp)
|
rs777486535
|
0.00002
|
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)
|
rs63750328
|
0.00002
|
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)
|
rs761525156
|
0.00002
|
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)
|
rs397515963
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln)
|
rs727504342
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)
|
rs397516246
|
0.00002
|
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)
|
rs730880923
|
0.00002
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu)
|
rs372445155
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000329.3(RPE65):c.1243+10T>C
|
rs548537552
|
0.00002
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val)
|
rs1489175329
|
0.00002
|
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)
|
rs28940877
|
0.00002
|
NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser)
|
rs764868582
|
0.00002
|
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)
|
rs397508387
|
0.00002
|
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)
|
rs28934586
|
0.00002
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)
|
rs757157750
|
0.00002
|
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp)
|
rs1057518970
|
0.00002
|
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)
|
rs755394212
|
0.00002
|
NM_001009944.3(PKD1):c.3019G>A (p.Val1007Met)
|
rs376176735
|
0.00002
|
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)
|
rs104894187
|
0.00002
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
NM_001048181.3(OPN1MW2):c.292G>A (p.Ala98Thr)
|
rs782410634
|
0.00002
|
NM_001080414.4(CCDC88C):c.5281G>A (p.Glu1761Lys)
|
rs761288523
|
0.00002
|
NM_001101362.3(KBTBD13):c.11G>A (p.Gly4Asp)
|
rs1228459718
|
0.00002
|
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)
|
rs1191721014
|
0.00002
|
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)
|
rs782240483
|
0.00002
|
NM_001123385.2(BCOR):c.651G>A (p.Met217Ile)
|
rs368939471
|
0.00002
|
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro)
|
rs2054687187
|
0.00002
|
NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys)
|
rs148449230
|
0.00002
|
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val)
|
rs771906889
|
0.00002
|
NM_001148.6(ANK2):c.157G>T (p.Gly53Trp)
|
rs1328490060
|
0.00002
|
NM_001148.6(ANK2):c.533C>T (p.Ala178Val)
|
rs901601971
|
0.00002
|
NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys)
|
rs771294359
|
0.00002
|
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val)
|
rs727504245
|
0.00002
|
NM_001288705.3(CSF1R):c.1402G>T (p.Val468Leu)
|
rs756493296
|
0.00002
|
NM_001288705.3(CSF1R):c.647G>A (p.Arg216Gln)
|
rs750413238
|
0.00002
|
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp)
|
rs104893613
|
0.00002
|
NM_001312909.2(FAM111A):c.1138A>G (p.Ile380Val)
|
rs755606746
|
0.00002
|
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)
|
rs1005844306
|
0.00002
|
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu)
|
rs781096189
|
0.00002
|
NM_001372044.2(SHANK3):c.3985C>T (p.Pro1329Ser)
|
rs748123356
|
0.00002
|
NM_001374828.1(ARID1B):c.1046T>G (p.Met349Arg)
|
rs1401971317
|
0.00002
|
NM_001378418.1(TCF20):c.4115G>A (p.Ser1372Asn)
|
rs371868789
|
0.00002
|
NM_001378964.1(CDON):c.7C>T (p.Pro3Ser)
|
rs771518021
|
0.00002
|
NM_001379500.1(COL18A1):c.3028G>A (p.Gly1010Ser)
|
rs1057518766
|
0.00002
|
NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser)
|
rs745458688
|
0.00002
|
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)
|
rs137852967
|
0.00002
|
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp)
|
rs753376100
|
0.00002
|
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met)
|
rs1057518968
|
0.00002
|
NM_001807.6(CEL):c.341-2A>G
|
rs755075929
|
0.00002
|
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg)
|
rs752009614
|
0.00002
|
NM_002047.4(GARS1):c.1159G>A (p.Ala387Thr)
|
rs776528885
|
0.00002
|
NM_002291.3(LAMB1):c.4648C>T (p.Arg1550Ter)
|
rs1292231609
|
0.00002
|
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter)
|
rs1057516045
|
0.00002
|
NM_002335.4(LRP5):c.883+20C>T
|
rs761245318
|
0.00002
|
NM_002471.4(MYH6):c.5111C>T (p.Ala1704Val)
|
rs776961989
|
0.00002
|
NM_002528.7(NTHL1):c.832G>A (p.Gly278Ser)
|
rs139309757
|
0.00002
|
NM_002591.4(PCK1):c.961+1G>A
|
rs776767788
|
0.00002
|
NM_002637.4(PHKA1):c.442A>G (p.Met148Val)
|
rs781837256
|
0.00002
|
NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val)
|
rs751774653
|
0.00002
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
NM_003380.5(VIM):c.1141C>T (p.Arg381Cys)
|
rs749084801
|
0.00002
|
NM_003718.5(CDK13):c.509C>T (p.Ala170Val)
|
rs1029840854
|
0.00002
|
NM_003995.4(NPR2):c.494G>A (p.Arg165His)
|
rs781334893
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)
|
rs374517178
|
0.00002
|
NM_004393.6(DAG1):c.910C>T (p.Pro304Ser)
|
rs147149991
|
0.00002
|
NM_004484.4(GPC3):c.733C>A (p.His245Asn)
|
rs199778216
|
0.00002
|
NM_005006.7(NDUFS1):c.65G>A (p.Arg22Gln)
|
rs767457281
|
0.00002
|
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)
|
rs104894294
|
0.00002
|
NM_005097.4(LGI1):c.275C>T (p.Ser92Leu)
|
rs772750463
|
0.00002
|
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)
|
rs751889864
|
0.00002
|
NM_005670.4(EPM2A):c.*1691G>A
|
rs750320097
|
0.00002
|
NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu)
|
rs774934088
|
0.00002
|
NM_006096.4(NDRG1):c.1081C>T (p.Arg361Cys)
|
rs779065972
|
0.00002
|
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn)
|
rs753732597
|
0.00002
|
NM_006308.3(HSPB3):c.68G>A (p.Arg23Gln)
|
rs780119257
|
0.00002
|
NM_006329.4(FBLN5):c.739+14G>A
|
rs1390709680
|
0.00002
|
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met)
|
rs764618040
|
0.00002
|
NM_006772.3(SYNGAP1):c.2591C>T (p.Ala864Val)
|
rs1581995772
|
0.00002
|
NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro)
|
rs778455371
|
0.00002
|
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln)
|
rs759206588
|
0.00002
|
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln)
|
rs61857115
|
0.00002
|
NM_007118.4(TRIO):c.5945G>A (p.Arg1982His)
|
rs780065387
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_012156.2(EPB41L1):c.2207T>C (p.Val736Ala)
|
rs766068292
|
0.00002
|
NM_013275.6(ANKRD11):c.301G>A (p.Gly101Arg)
|
rs1373571533
|
0.00002
|
NM_014489.4(PGAP2):c.349-910C>A
|
rs773988754
|
0.00002
|
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)
|
rs751007903
|
0.00002
|
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr)
|
rs200093133
|
0.00002
|
NM_018896.5(CACNA1G):c.6949G>A (p.Glu2317Lys)
|
rs767121010
|
0.00002
|
NM_019098.5(CNGB3):c.1578+1G>A
|
rs372006750
|
0.00002
|
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)
|
rs375909217
|
0.00002
|
NM_019892.6(INPP5E):c.1666-12A>G
|
rs372545147
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)
|
rs377215510
|
0.00002
|
NM_020921.4(NIN):c.349G>A (p.Val117Met)
|
rs374373270
|
0.00002
|
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys)
|
rs557257494
|
0.00002
|
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)
|
rs749903780
|
0.00002
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)
|
rs199588440
|
0.00002
|
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)
|
rs121917882
|
0.00002
|
NM_031307.4(PUS3):c.1082T>A (p.Met361Lys)
|
rs779344310
|
0.00002
|
NM_032444.4(SLX4):c.3127G>A (p.Gly1043Arg)
|
rs776060270
|
0.00002
|
NM_032620.4(GTPBP3):c.673G>A (p.Glu225Lys)
|
rs778983997
|
0.00002
|
NM_033163.5(FGF8):c.451G>A (p.Gly151Ser)
|
rs606231407
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)
|
rs374993554
|
0.00002
|
NM_152416.4(NDUFAF6):c.743G>A (p.Arg248Gln)
|
rs569186576
|
0.00002
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)
|
rs119456961
|
0.00002
|
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)
|
rs752362727
|
0.00002
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)
|
rs886045364
|
0.00002
|
NM_178857.6(RP1L1):c.5929G>A (p.Val1977Ile)
|
rs534151176
|
0.00002
|
NM_201384.3(PLEC):c.10934G>A (p.Arg3645His)
|
rs374762979
|
0.00002
|
NM_201548.5(CERKL):c.481+2T>G
|
rs753994107
|
0.00002
|
NM_203446.3(SYNJ1):c.803G>A (p.Arg268His)
|
rs201796096
|
0.00002
|
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)
|
rs201709470
|
0.00002
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000038.6(APC):c.1435T>A (p.Leu479Met)
|
rs780577693
|
0.00001
|
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser)
|
rs367676584
|
0.00001
|
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly)
|
rs1555070958
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.712A>G (p.Ile238Val)
|
rs754275014
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)
|
rs752850609
|
0.00001
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
NM_000070.3(CAPN3):c.1113T>A (p.Asp371Glu)
|
rs774834498
|
0.00001
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
NM_000071.3(CBS):c.828+1G>A
|
rs763290176
|
0.00001
|
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter)
|
rs1057518917
|
0.00001
|
NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly)
|
rs555680428
|
0.00001
|
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)
|
rs80356692
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs)
|
rs775637637
|
0.00001
|
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer)
|
rs779593707
|
0.00001
|
NM_000088.4(COL1A1):c.3045+11C>T
|
rs201349683
|
0.00001
|
NM_000089.4(COL1A2):c.280-7T>C
|
rs750868020
|
0.00001
|
NM_000090.4(COL3A1):c.2351C>T (p.Ala784Val)
|
rs370292679
|
0.00001
|
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val)
|
rs1016767830
|
0.00001
|
NM_000091.5(COL4A3):c.2746+17C>T
|
rs765408537
|
0.00001
|
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)
|
rs869025328
|
0.00001
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=)
|
rs1057518771
|
0.00001
|
NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys)
|
rs759042440
|
0.00001
|
NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp)
|
rs1490728700
|
0.00001
|
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)
|
rs780261665
|
0.00001
|
NM_000094.4(COL7A1):c.4818+18T>A
|
rs368227259
|
0.00001
|
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)
|
rs121912855
|
0.00001
|
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)
|
rs121912854
|
0.00001
|
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter)
|
rs2043645754
|
0.00001
|
NM_000124.4(ERCC6):c.2840G>A (p.Arg947Gln)
|
rs1332662295
|
0.00001
|
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)
|
rs111033613
|
0.00001
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe)
|
rs1554835099
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)
|
rs762659907
|
0.00001
|
NM_000143.4(FH):c.73G>A (p.Ala25Thr)
|
rs999146815
|
0.00001
|
NM_000145.4(FSHR):c.2T>C (p.Met1Thr)
|
rs955385021
|
0.00001
|
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)
|
rs766762599
|
0.00001
|
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)
|
rs886039569
|
0.00001
|
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)
|
rs121908305
|
0.00001
|
NM_000157.4(GBA1):c.34C>T (p.Pro12Ser)
|
rs763770350
|
0.00001
|
NM_000165.5(GJA1):c.962G>T (p.Gly321Val)
|
rs1294212392
|
0.00001
|
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)
|
rs61750172
|
0.00001
|
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)
|
rs780351691
|
0.00001
|
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)
|
rs575222284
|
0.00001
|
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)
|
rs137853341
|
0.00001
|
NM_000211.5(ITGB2):c.2077C>T (p.Arg693Ter)
|
rs2083734400
|
0.00001
|
NM_000237.3(LPL):c.337T>C (p.Trp113Arg)
|
rs118204069
|
0.00001
|
NM_000238.4(KCNH2):c.3320C>T (p.Ser1107Leu)
|
rs1303580599
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000251.3(MSH2):c.146A>T (p.Asp49Val)
|
rs63750335
|
0.00001
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)
|
rs587779154
|
0.00001
|
NM_000254.3(MTR):c.2474-1G>C
|
rs757963570
|
0.00001
|
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr)
|
rs730880692
|
0.00001
|
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp)
|
rs534366414
|
0.00001
|
NM_000256.3(MYBPC3):c.3142C>T (p.Arg1048Cys)
|
rs11570113
|
0.00001
|
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys)
|
rs551119259
|
0.00001
|
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)
|
rs36211715
|
0.00001
|
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys)
|
rs397516196
|
0.00001
|
NM_000260.4(MYO7A):c.3375+3G>A
|
rs397516299
|
0.00001
|
NM_000260.4(MYO7A):c.359G>A (p.Arg120His)
|
rs369493667
|
0.00001
|
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met)
|
rs769205075
|
0.00001
|
NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys)
|
rs758520331
|
0.00001
|
NM_000268.4(NF2):c.1232G>A (p.Arg411His)
|
rs201214090
|
0.00001
|
NM_000268.4(NF2):c.676-104G>A
|
rs1040559021
|
0.00001
|
NM_000270.4(PNP):c.265G>A (p.Glu89Lys)
|
rs104894453
|
0.00001
|
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)
|
rs786204714
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
NM_000273.3(GPR143):c.947G>A (p.Cys316Tyr)
|
rs1348263627
|
0.00001
|
NM_000283.4(PDE6B):c.1859A>G (p.His620Arg)
|
rs1737315492
|
0.00001
|
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)
|
rs749657417
|
0.00001
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000297.4(PKD2):c.145C>T (p.Gln49Ter)
|
rs1057518906
|
0.00001
|
NM_000297.4(PKD2):c.2241-14C>T
|
rs763507546
|
0.00001
|
NM_000297.4(PKD2):c.95G>A (p.Gly32Asp)
|
rs1393526656
|
0.00001
|
NM_000301.5(PLG):c.2263A>G (p.Ser755Gly)
|
rs1778416234
|
0.00001
|
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg)
|
rs1438879558
|
0.00001
|
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe)
|
rs1215262242
|
0.00001
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
0.00001
|
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)
|
rs886044725
|
0.00001
|
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)
|
rs62654397
|
0.00001
|
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)
|
rs61751398
|
0.00001
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
0.00001
|
NM_000350.3(ABCA4):c.5196+1G>A
|
rs61751377
|
0.00001
|
NM_000350.3(ABCA4):c.5312+1G>A
|
rs886044750
|
0.00001
|
NM_000350.3(ABCA4):c.5645T>C (p.Met1882Thr)
|
rs780817685
|
0.00001
|
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
NM_000369.5(TSHR):c.122G>C (p.Cys41Ser)
|
rs121908869
|
0.00001
|
NM_000371.4(TTR):c.69+5G>C
|
rs1221178462
|
0.00001
|
NM_000372.5(TYR):c.74dup (p.Ser26fs)
|
rs1057518763
|
0.00001
|
NM_000384.3(APOB):c.6707T>C (p.Ile2236Thr)
|
rs781584312
|
0.00001
|
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)
|
rs121909258
|
0.00001
|
NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp)
|
rs746155819
|
0.00001
|
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)
|
rs121913577
|
0.00001
|
NM_000426.4(LAMA2):c.6624G>C (p.Trp2208Cys)
|
rs1294289973
|
0.00001
|
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)
|
rs398123383
|
0.00001
|
NM_000428.3(LTBP2):c.3850C>T (p.Arg1284Cys)
|
rs141033298
|
0.00001
|
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys)
|
rs1438626607
|
0.00001
|
NM_000435.3(NOTCH3):c.6217G>C (p.Gly2073Arg)
|
rs1250159597
|
0.00001
|
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)
|
rs121918576
|
0.00001
|
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala)
|
rs56017519
|
0.00001
|
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro)
|
rs1057518810
|
0.00001
|
NM_000455.5(STK11):c.1148G>A (p.Arg383His)
|
rs730881990
|
0.00001
|
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)
|
rs587781633
|
0.00001
|
NM_000459.5(TEK):c.922G>A (p.Gly308Arg)
|
rs752184169
|
0.00001
|
NM_000478.6(ALPL):c.1182dup (p.Ile395fs)
|
rs754826836
|
0.00001
|
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)
|
rs199590449
|
0.00001
|
NM_000478.6(ALPL):c.997+2T>A
|
rs1057517391
|
0.00001
|
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)
|
rs74315472
|
0.00001
|
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys)
|
rs397508565
|
0.00001
|
NM_000494.4(COL17A1):c.2062C>T (p.Arg688Ter)
|
rs768415627
|
0.00001
|
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter)
|
rs1564685400
|
0.00001
|
NM_000496.3(CRYBB2):c.472G>A (p.Gly158Ser)
|
rs539443672
|
0.00001
|
NM_000501.4(ELN):c.134-16T>C
|
rs782791376
|
0.00001
|
NM_000501.4(ELN):c.893T>C (p.Val298Ala)
|
rs782205353
|
0.00001
|
NM_000501.4(ELN):c.898A>T (p.Thr300Ser)
|
rs766735416
|
0.00001
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)
|
rs200750564
|
0.00001
|
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)
|
rs748872992
|
0.00001
|
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)
|
rs121913605
|
0.00001
|
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589
|
0.00001
|
NM_000534.5(PMS1):c.1241G>A (p.Gly414Asp)
|
rs745523368
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
0.00001
|
NM_000537.4(REN):c.255G>C (p.Gln85His)
|
rs1301244321
|
0.00001
|
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)
|
rs29001566
|
0.00001
|
NM_000539.3(RHO):c.892G>A (p.Ala298Thr)
|
rs781237162
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.3202T>C (p.Cys1068Arg)
|
rs1057518768
|
0.00001
|
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)
|
rs763944786
|
0.00001
|
NM_000540.3(RYR1):c.4816C>T (p.Arg1606Cys)
|
rs774316371
|
0.00001
|
NM_000540.3(RYR1):c.5999C>T (p.Ser2000Phe)
|
rs750324313
|
0.00001
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
NM_000540.3(RYR1):c.8519G>A (p.Arg2840Gln)
|
rs923436076
|
0.00001
|
NM_000546.6(TP53):c.-11G>A
|
rs773666793
|
0.00001
|
NM_000548.5(TSC2):c.3132-13C>T
|
rs371948435
|
0.00001
|
NM_000548.5(TSC2):c.3284+6T>G
|
rs375837026
|
0.00001
|
NM_000548.5(TSC2):c.886G>A (p.Val296Met)
|
rs747237113
|
0.00001
|
NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser)
|
rs771055145
|
0.00001
|
NM_000628.5(IL10RB):c.647-14A>C
|
rs45526732
|
0.00001
|
NM_000744.7(CHRNA4):c.1184C>T (p.Thr395Met)
|
rs121912269
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)
|
rs367560052
|
0.00001
|
NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser)
|
rs775323445
|
0.00001
|
NM_001005273.3(CHD3):c.214-20T>C
|
rs1478890465
|
0.00001
|
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser)
|
rs121908046
|
0.00001
|
NM_001009944.3(PKD1):c.3037G>A (p.Val1013Met)
|
rs1301518884
|
0.00001
|
NM_001009944.3(PKD1):c.6404C>T (p.Ala2135Val)
|
rs368987928
|
0.00001
|
NM_001009944.3(PKD1):c.6517G>A (p.Val2173Ile)
|
rs749619625
|
0.00001
|
NM_001009944.3(PKD1):c.6877C>T (p.Pro2293Ser)
|
rs1383657728
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001012614.2(CTBP1):c.286A>G (p.Ile96Val)
|
rs1013197831
|
0.00001
|
NM_001015877.2(PHF6):c.240+10T>C
|
rs750243844
|
0.00001
|
NM_001018005.2(TPM1):c.115-213G>C
|
rs979999394
|
0.00001
|
NM_001036.6(RYR3):c.13197G>C (p.Gln4399His)
|
rs772448824
|
0.00001
|
NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His)
|
rs1553348960
|
0.00001
|
NM_001042492.3(NF1):c.1156A>G (p.Ile386Val)
|
rs779930387
|
0.00001
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val)
|
rs745906742
|
0.00001
|
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)
|
rs140653372
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg)
|
rs587778552
|
0.00001
|
NM_001077365.2(POMT1):c.280+1G>T
|
rs746823238
|
0.00001
|
NM_001077525.3(MTMR14):c.1390G>A (p.Ala464Thr)
|
rs756932434
|
0.00001
|
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met)
|
rs137852954
|
0.00001
|
NM_001079866.2(BCS1L):c.814G>A (p.Val272Met)
|
rs1193854555
|
0.00001
|
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)
|
rs118203984
|
0.00001
|
NM_001081550.2(THOC2):c.3613G>C (p.Gly1205Arg)
|
rs753209373
|
0.00001
|
NM_001083962.2(TCF4):c.789+18G>A
|
rs541018682
|
0.00001
|
NM_001098.3(ACO2):c.1395G>C (p.Lys465Asn)
|
rs746964497
|
0.00001
|
NM_001098.3(ACO2):c.76C>T (p.Leu26=)
|
rs1057518832
|
0.00001
|
NM_001098816.3(TENM4):c.6668T>C (p.Leu2223Pro)
|
rs950098538
|
0.00001
|
NM_001104631.2(PDE4D):c.1476T>G (p.Ile492Met)
|
rs1379060456
|
0.00001
|
NM_001109878.2(TBX22):c.448A>C (p.Lys150Gln)
|
rs1156605251
|
0.00001
|
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu)
|
rs267606815
|
0.00001
|
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)
|
rs1557178278
|
0.00001
|
NM_001110556.2(FLNA):c.5063T>G (p.Val1688Gly)
|
rs1461148946
|
0.00001
|
NM_001110792.2(MECP2):c.236G>T (p.Gly79Val)
|
rs150900180
|
0.00001
|
NM_001112741.2(KCNC1):c.1409A>G (p.Asn470Ser)
|
rs143588903
|
0.00001
|
NM_001113491.2(SEPTIN9):c.1313A>G (p.Asn438Ser)
|
rs749673813
|
0.00001
|
NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala)
|
rs1289349820
|
0.00001
|
NM_001123385.2(BCOR):c.4903G>A (p.Asp1635Asn)
|
rs367883774
|
0.00001
|
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)
|
rs1057518779
|
0.00001
|
NM_001130823.3(DNMT1):c.391C>T (p.Pro131Ser)
|
rs1057518769
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile)
|
rs767049254
|
0.00001
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
NM_001134363.3(RBM20):c.3301G>A (p.Glu1101Lys)
|
rs959605686
|
0.00001
|
NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg)
|
rs536180346
|
0.00001
|
NM_001142556.2(HMMR):c.904+1G>T
|
rs374532508
|
0.00001
|
NM_001145809.2(MYH14):c.1945+6G>A
|
rs1057518869
|
0.00001
|
NM_001145809.2(MYH14):c.2347C>T (p.Arg783Trp)
|
rs747057989
|
0.00001
|
NM_001148.6(ANK2):c.3526G>T (p.Val1176Leu)
|
rs777113752
|
0.00001
|
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)
|
rs121912683
|
0.00001
|
NM_001161352.2(KCNMA1):c.378+503T>C
|
rs200150931
|
0.00001
|
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)
|
rs193302889
|
0.00001
|
NM_001166114.2(PNPLA6):c.3302G>A (p.Arg1101His)
|
rs777615874
|
0.00001
|
NM_001182.5(ALDH7A1):c.1566-1G>T
|
rs140845195
|
0.00001
|
NM_001183.6(ATP6AP1):c.674G>A (p.Arg225His)
|
rs782349780
|
0.00001
|
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter)
|
rs1310011888
|
0.00001
|
NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter)
|
rs995036419
|
0.00001
|
NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile)
|
rs1425787315
|
0.00001
|
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)
|
rs748302886
|
0.00001
|
NM_001199397.3(NEK1):c.3295G>C (p.Asp1099His)
|
rs765205496
|
0.00001
|
NM_001205019.2(GK):c.*1A>G
|
rs766499924
|
0.00001
|
NM_001244008.2(KIF1A):c.3064-13C>T
|
rs779347174
|
0.00001
|
NM_001244008.2(KIF1A):c.3640+12C>T
|
rs1403885809
|
0.00001
|
NM_001244008.2(KIF1A):c.3670C>T (p.Arg1224Trp)
|
rs368577433
|
0.00001
|
NM_001253852.3(AP4B1):c.114-2A>G
|
rs879255396
|
0.00001
|
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)
|
rs886039559
|
0.00001
|
NM_001257180.2(SLC20A2):c.568A>G (p.Thr190Ala)
|
rs1272921798
|
0.00001
|
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)
|
rs757082154
|
0.00001
|
NM_001267550.2(TTN):c.63709A>G (p.Thr21237Ala)
|
rs766847414
|
0.00001
|
NM_001267550.2(TTN):c.78989G>A (p.Ser26330Asn)
|
rs1427996263
|
0.00001
|
NM_001271.4(CHD2):c.3367G>T (p.Val1123Leu)
|
rs1295966448
|
0.00001
|
NM_001282717.2(STAG3):c.2776C>T (p.Arg926Ter)
|
rs764841861
|
0.00001
|
NM_001288705.3(CSF1R):c.349G>A (p.Val117Met)
|
rs566891025
|
0.00001
|
NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr)
|
rs1264081192
|
0.00001
|
NM_001318510.2(ACSL4):c.1892G>A (p.Arg631Gln)
|
rs370335449
|
0.00001
|
NM_001323289.2(CDKL5):c.403+5G>A
|
rs1342864362
|
0.00001
|
NM_001347702.2(SYNE1):c.1472A>G (p.Tyr491Cys)
|
rs1384400002
|
0.00001
|
NM_001348323.3(TRIP12):c.2038A>G (p.Asn680Asp)
|
rs772399122
|
0.00001
|
NM_001354604.2(MITF):c.104+24188C>G
|
rs1441101806
|
0.00001
|
NM_001365276.2(TNXB):c.5052C>A (p.Asp1684Glu)
|
rs776883744
|
0.00001
|
NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter)
|
rs1057518900
|
0.00001
|
NM_001365536.1(SCN9A):c.377+5C>T
|
rs200972952
|
0.00001
|
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
|
rs141942131
|
0.00001
|
NM_001366385.1(CARD14):c.1778T>A (p.Ile593Asn)
|
rs281875220
|
0.00001
|
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser)
|
rs887755283
|
0.00001
|
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr)
|
rs770975422
|
0.00001
|
NM_001371596.2(MFSD8):c.479C>T (p.Thr160Ile)
|
rs1162750836
|
0.00001
|
NM_001371596.2(MFSD8):c.923A>G (p.Tyr308Cys)
|
rs757345902
|
0.00001
|
NM_001374675.1(HSF4):c.1222A>G (p.Thr408Ala)
|
rs760918985
|
0.00001
|
NM_001374828.1(ARID1B):c.1987-10T>G
|
rs1276255111
|
0.00001
|
NM_001374828.1(ARID1B):c.482C>T (p.Ala161Val)
|
rs752961325
|
0.00001
|
NM_001378183.1(PIEZO2):c.330-2dup
|
rs1342634570
|
0.00001
|
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
|
rs773881370
|
0.00001
|
NM_001378964.1(CDON):c.1819C>T (p.Pro607Ser)
|
rs1947104519
|
0.00001
|
NM_001378964.1(CDON):c.2238del (p.Asn746fs)
|
rs1171605734
|
0.00001
|
NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu)
|
rs200907515
|
0.00001
|
NM_001384140.1(PCDH15):c.5045A>G (p.Asn1682Ser)
|
rs777886341
|
0.00001
|
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)
|
rs749523755
|
0.00001
|
NM_001385012.1(NBEA):c.8167T>G (p.Phe2723Val)
|
rs1255750660
|
0.00001
|
NM_001394062.1(MACF1):c.19070C>T (p.Pro6357Leu)
|
rs1190036986
|
0.00001
|
NM_001394062.1(MACF1):c.19229T>C (p.Met6410Thr)
|
rs1644147317
|
0.00001
|
NM_001394062.1(MACF1):c.3450-7C>G
|
rs1646412588
|
0.00001
|
NM_001458.5(FLNC):c.5293C>T (p.His1765Tyr)
|
rs1263073740
|
0.00001
|
NM_001492.6(GDF1):c.137G>C (p.Arg46Pro)
|
rs2055941159
|
0.00001
|
NM_001498.4(GCLC):c.482A>G (p.Lys161Arg)
|
rs376535220
|
0.00001
|
NM_001605.3(AARS1):c.176C>T (p.Pro59Leu)
|
rs1337985053
|
0.00001
|
NM_001822.7(CHN1):c.962G>C (p.Arg321Thr)
|
rs202153128
|
0.00001
|
NM_001844.5(COL2A1):c.1941+18C>T
|
rs753819738
|
0.00001
|
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln)
|
rs779252535
|
0.00001
|
NM_001846.4(COL4A2):c.2995A>G (p.Met999Val)
|
rs1317550156
|
0.00001
|
NM_001848.3(COL6A1):c.2518G>A (p.Val840Met)
|
rs751124572
|
0.00001
|
NM_001848.3(COL6A1):c.717+1G>A
|
rs113969925
|
0.00001
|
NM_001876.4(CPT1A):c.421G>A (p.Gly141Ser)
|
rs1309112630
|
0.00001
|
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu)
|
rs1221769620
|
0.00001
|
NM_001943.5(DSG2):c.3G>A (p.Met1Ile)
|
rs1021457619
|
0.00001
|
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)
|
rs770921270
|
0.00001
|
NM_002025.4(AFF2):c.1842G>T (p.Leu614Phe)
|
rs371160275
|
0.00001
|
NM_002055.5(GFAP):c.1171+144T>C
|
rs560230868
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)
|
rs773690764
|
0.00001
|
NM_002230.4(JUP):c.1805G>A (p.Arg602His)
|
rs909955430
|
0.00001
|
NM_002230.4(JUP):c.406G>A (p.Asp136Asn)
|
rs782392706
|
0.00001
|
NM_002448.3(MSX1):c.89G>A (p.Gly30Asp)
|
rs1414674827
|
0.00001
|
NM_002470.4(MYH3):c.1581+1G>A
|
rs1350968647
|
0.00001
|
NM_002470.4(MYH3):c.2392A>G (p.Met798Val)
|
rs1412652406
|
0.00001
|
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)
|
rs80338827
|
0.00001
|
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr)
|
rs748946434
|
0.00001
|
NM_002608.4(PDGFB):c.716T>C (p.Leu239Pro)
|
rs1932148548
|
0.00001
|
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)
|
rs367543286
|
0.00001
|
NM_002633.3(PGM1):c.873+6T>C
|
rs368068987
|
0.00001
|
NM_002691.4(POLD1):c.497G>A (p.Arg166Gln)
|
rs750144413
|
0.00001
|
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys)
|
rs746613906
|
0.00001
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)
|
rs752669339
|
0.00001
|
NM_002878.4(RAD51D):c.431C>T (p.Ser144Phe)
|
rs587781875
|
0.00001
|
NM_002900.3(RBP3):c.2789T>C (p.Ile930Thr)
|
rs370922435
|
0.00001
|
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)
|
rs138996609
|
0.00001
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003072.5(SMARCA4):c.2439-12T>G
|
rs1462368992
|
0.00001
|
NM_003124.5(SPR):c.610G>C (p.Asp204His)
|
rs1430511579
|
0.00001
|
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter)
|
rs751026146
|
0.00001
|
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met)
|
rs754176932
|
0.00001
|
NM_003322.6(TULP1):c.1025G>A (p.Arg342Gln)
|
rs756856544
|
0.00001
|
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala)
|
rs756023441
|
0.00001
|
NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu)
|
rs776242478
|
0.00001
|
NM_003611.3(OFD1):c.1999G>A (p.Ala667Thr)
|
rs1394450537
|
0.00001
|
NM_003613.4(CILP):c.787C>T (p.Arg263Ter)
|
rs1301495780
|
0.00001
|
NM_003673.4(TCAP):c.389G>A (p.Arg130His)
|
rs147503632
|
0.00001
|
NM_003730.6(RNASET2):c.131C>T (p.Pro44Leu)
|
rs372273901
|
0.00001
|
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly)
|
rs72549402
|
0.00001
|
NM_003742.4(ABCB11):c.3148C>T (p.Arg1050Cys)
|
rs72549398
|
0.00001
|
NM_003797.5(EED):c.73A>G (p.Ser25Gly)
|
rs1459981515
|
0.00001
|
NM_003802.3(MYH13):c.2117T>A (p.Ile706Asn)
|
rs1394139900
|
0.00001
|
NM_003924.4(PHOX2B):c.682G>A (p.Gly228Arg)
|
rs1168393338
|
0.00001
|
NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp)
|
rs770516401
|
0.00001
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
NM_004115.4(FGF14):c.71C>T (p.Pro24Leu)
|
rs757752994
|
0.00001
|
NM_004183.4(BEST1):c.1444del (p.Glu482fs)
|
rs759410076
|
0.00001
|
NM_004204.5(PIGQ):c.690-2A>G
|
rs587777543
|
0.00001
|
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)
|
rs761953453
|
0.00001
|
NM_004208.4(AIFM1):c.1770+12T>C
|
rs781186692
|
0.00001
|
NM_004217.4(AURKB):c.74C>T (p.Pro25Leu)
|
rs1391275763
|
0.00001
|
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser)
|
rs1321693848
|
0.00001
|
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)
|
rs542970560
|
0.00001
|
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)
|
rs1211983012
|
0.00001
|
NM_004393.6(DAG1):c.932G>A (p.Arg311Gln)
|
rs752813826
|
0.00001
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
0.00001
|
NM_004483.5(GCSH):c.49C>T (p.Arg17Cys)
|
rs967101315
|
0.00001
|
NM_004562.3(PRKN):c.824G>A (p.Arg275Gln)
|
rs769230602
|
0.00001
|
NM_004595.5(SMS):c.872C>A (p.Thr291Lys)
|
rs755701744
|
0.00001
|
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)
|
rs386833863
|
0.00001
|
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His)
|
rs1377524842
|
0.00001
|
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met)
|
rs1009967374
|
0.00001
|
NM_004698.4(PRPF3):c.508-13C>G
|
rs373033761
|
0.00001
|
NM_004793.4(LONP1):c.1939G>A (p.Glu647Lys)
|
rs149596661
|
0.00001
|
NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter)
|
rs72554620
|
0.00001
|
NM_004840.3(ARHGEF6):c.1006G>A (p.Ala336Thr)
|
rs761576293
|
0.00001
|
NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter)
|
rs999384296
|
0.00001
|
NM_004924.6(ACTN4):c.190C>G (p.Leu64Val)
|
rs1478339393
|
0.00001
|
NM_004990.4(MARS1):c.985C>A (p.Pro329Thr)
|
rs1876753716
|
0.00001
|
NM_005045.4(RELN):c.7267C>T (p.Arg2423Cys)
|
rs1165686675
|
0.00001
|
NM_005060.4(RORC):c.931A>C (p.Lys311Gln)
|
rs1651672789
|
0.00001
|
NM_005120.3(MED12):c.1996A>G (p.Met666Val)
|
rs1401003961
|
0.00001
|
NM_005120.3(MED12):c.2982-20C>T
|
rs773211847
|
0.00001
|
NM_005138.3(SCO2):c.406A>C (p.Ile136Leu)
|
rs781539081
|
0.00001
|
NM_005157.6(ABL1):c.3203T>C (p.Val1068Ala)
|
rs768811183
|
0.00001
|
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn)
|
rs771588131
|
0.00001
|
NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln)
|
rs373679838
|
0.00001
|
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile)
|
rs779366136
|
0.00001
|
NM_005267.5(GJA8):c.1033G>A (p.Glu345Lys)
|
rs1553242966
|
0.00001
|
NM_005400.3(PRKCE):c.1533C>G (p.Phe511Leu)
|
rs765421914
|
0.00001
|
NM_005413.4(SIX3):c.208T>C (p.Ser70Pro)
|
rs1314811261
|
0.00001
|
NM_005422.4(TECTA):c.2644G>A (p.Glu882Lys)
|
rs778979756
|
0.00001
|
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)
|
rs140236996
|
0.00001
|
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys)
|
rs1455568421
|
0.00001
|
NM_005465.7(AKT3):c.1241A>G (p.Tyr414Cys)
|
rs1048970120
|
0.00001
|
NM_005529.7(HSPG2):c.12427G>A (p.Glu4143Lys)
|
rs747563153
|
0.00001
|
NM_005529.7(HSPG2):c.1508-10C>T
|
rs765166428
|
0.00001
|
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp)
|
rs1205547665
|
0.00001
|
NM_005591.4(MRE11):c.229G>A (p.Glu77Lys)
|
rs779269083
|
0.00001
|
NM_005630.3(SLCO2A1):c.290G>A (p.Arg97His)
|
rs1376989560
|
0.00001
|
NM_005633.4(SOS1):c.1075-16C>T
|
rs112540686
|
0.00001
|
NM_005633.4(SOS1):c.2344A>G (p.Ile782Val)
|
rs778580742
|
0.00001
|
NM_005633.4(SOS1):c.2489A>G (p.Asn830Ser)
|
rs397517158
|
0.00001
|
NM_005751.5(AKAP9):c.4367C>A (p.Ala1456Asp)
|
rs763748052
|
0.00001
|
NM_005876.5(SPEG):c.3163C>T (p.Arg1055Trp)
|
rs1202116887
|
0.00001
|
NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys)
|
rs757903145
|
0.00001
|
NM_005909.5(MAP1B):c.4022C>T (p.Thr1341Ile)
|
rs958602754
|
0.00001
|
NM_006005.3(WFS1):c.2051C>G (p.Ala684Gly)
|
rs387906930
|
0.00001
|
NM_006005.3(WFS1):c.2437G>A (p.Val813Met)
|
rs756972444
|
0.00001
|
NM_006013.5(RPL10):c.236G>C (p.Ser79Thr)
|
rs782088842
|
0.00001
|
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)
|
rs777785526
|
0.00001
|
NM_006218.4(PIK3CA):c.1059+12T>A
|
rs200627037
|
0.00001
|
NM_006364.4(SEC23A):c.1227+2T>G
|
rs755443033
|
0.00001
|
NM_006392.4(NOP56):c.452G>C (p.Ser151Thr)
|
rs1360494485
|
0.00001
|
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)
|
rs201748668
|
0.00001
|
NM_006563.5(KLF1):c.1079G>A (p.Arg360His)
|
rs745810050
|
0.00001
|
NM_006586.5(CNPY3):c.734_737del (p.Gln245fs)
|
rs1197219692
|
0.00001
|
NM_006642.5(SDCCAG8):c.1942C>T (p.Gln648Ter)
|
rs367572249
|
0.00001
|
NM_006734.4(HIVEP2):c.3730A>G (p.Lys1244Glu)
|
rs777382930
|
0.00001
|
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln)
|
rs781776791
|
0.00001
|
NM_006767.4(LZTR1):c.401-2_401-1del
|
rs769200796
|
0.00001
|
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile)
|
rs758194318
|
0.00001
|
NM_006828.4(ASCC3):c.5693A>G (p.His1898Arg)
|
rs1381176199
|
0.00001
|
NM_006946.4(SPTBN2):c.4986-5T>G
|
rs1371679359
|
0.00001
|
NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro)
|
rs1165799072
|
0.00001
|
NM_007055.4(POLR3A):c.1982A>G (p.Asn661Ser)
|
rs758025995
|
0.00001
|
NM_007118.4(TRIO):c.80G>T (p.Gly27Val)
|
rs1188365621
|
0.00001
|
NM_007126.5(VCP):c.41C>T (p.Thr14Ile)
|
rs1219381953
|
0.00001
|
NM_007129.5(ZIC2):c.418G>C (p.Gly140Arg)
|
rs1164231504
|
0.00001
|
NM_007129.5(ZIC2):c.914A>T (p.Glu305Val)
|
rs897501049
|
0.00001
|
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe)
|
rs876659400
|
0.00001
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
NM_007217.4(PDCD10):c.474+5G>A
|
rs1553759139
|
0.00001
|
NM_007289.4(MME):c.1735G>A (p.Gly579Ser)
|
rs767928746
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007332.3(TRPA1):c.2366C>T (p.Ala789Val)
|
rs1193285296
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_012073.5(CCT5):c.1357G>A (p.Asp453Asn)
|
rs766463234
|
0.00001
|
NM_012120.3(CD2AP):c.764dup (p.Ser256fs)
|
rs776297606
|
0.00001
|
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)
|
rs111033570
|
0.00001
|
NM_012243.3(SLC35A3):c.470C>T (p.Pro157Leu)
|
rs890225731
|
0.00001
|
NM_012469.4(PRPF6):c.1582G>A (p.Ala528Thr)
|
rs2059240399
|
0.00001
|
NM_013236.4(ATXN10):c.13A>G (p.Arg5Gly)
|
rs1296770412
|
0.00001
|
NM_013254.4(TBK1):c.992+1G>A
|
rs1341055534
|
0.00001
|
NM_013275.6(ANKRD11):c.3467G>A (p.Arg1156Gln)
|
rs775910970
|
0.00001
|
NM_014014.5(SNRNP200):c.3133C>A (p.Pro1045Thr)
|
rs745733409
|
0.00001
|
NM_014014.5(SNRNP200):c.557A>G (p.Lys186Arg)
|
rs767984565
|
0.00001
|
NM_014141.6(CNTNAP2):c.536A>G (p.Tyr179Cys)
|
rs1057518820
|
0.00001
|
NM_014159.7(SETD2):c.6179C>T (p.Ser2060Leu)
|
rs745410359
|
0.00001
|
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs)
|
rs397514545
|
0.00001
|
NM_014694.4(ADAMTSL2):c.475C>T (p.Arg159Trp)
|
rs776178041
|
0.00001
|
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn)
|
rs774499394
|
0.00001
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
NM_014874.4(MFN2):c.1858G>A (p.Val620Ile)
|
rs200936779
|
0.00001
|
NM_014874.4(MFN2):c.1946G>A (p.Arg649His)
|
rs763492075
|
0.00001
|
NM_014874.4(MFN2):c.707C>T (p.Thr236Met)
|
rs773159585
|
0.00001
|
NM_014906.5(PPM1E):c.*1892T>A
|
rs1567903706
|
0.00001
|
NM_014946.4(SPAST):c.343C>T (p.Arg115Cys)
|
rs1272546651
|
0.00001
|
NM_014975.3(MAST1):c.2354A>T (p.Glu785Val)
|
rs1292469725
|
0.00001
|
NM_014989.7(RIMS1):c.2896C>T (p.Arg966Cys)
|
rs764444309
|
0.00001
|
NM_015046.7(SETX):c.2607_2609del (p.Lys870del)
|
rs781159054
|
0.00001
|
NM_015166.4(MLC1):c.178-10T>A
|
rs80358243
|
0.00001
|
NM_015166.4(MLC1):c.423+1G>A
|
rs752428321
|
0.00001
|
NM_015215.4(CAMTA1):c.2227G>A (p.Gly743Arg)
|
rs965685976
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
0.00001
|
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
|
rs993394322
|
0.00001
|
NM_015295.3(SMCHD1):c.5798T>A (p.Leu1933His)
|
rs1405560459
|
0.00001
|
NM_015338.6(ASXL1):c.2862C>A (p.Asp954Glu)
|
rs752471895
|
0.00001
|
NM_015346.4(ZFYVE26):c.6278dup (p.Phe2094fs)
|
rs755756797
|
0.00001
|
NM_015443.4(KANSL1):c.1794C>A (p.Ser598Arg)
|
rs749811911
|
0.00001
|
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys)
|
rs376233499
|
0.00001
|
NM_015570.4(AUTS2):c.607C>T (p.Arg203Trp)
|
rs768770455
|
0.00001
|
NM_015884.4(MBTPS2):c.1520C>T (p.Ala507Val)
|
rs1486619088
|
0.00001
|
NM_015973.5(GAL):c.81+12G>A
|
rs1338973790
|
0.00001
|
NM_015978.3(TNNI3K):c.1995C>A (p.Phe665Leu)
|
rs776665374
|
0.00001
|
NM_016148.5(SHANK1):c.5471C>T (p.Pro1824Leu)
|
rs755137324
|
0.00001
|
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)
|
rs121908987
|
0.00001
|
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter)
|
rs763075073
|
0.00001
|
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter)
|
rs768257384
|
0.00001
|
NM_016247.4(IMPG2):c.3179T>G (p.Phe1060Cys)
|
rs781743972
|
0.00001
|
NM_016343.4(CENPF):c.9200C>T (p.Thr3067Met)
|
rs752309258
|
0.00001
|
NM_016358.3(IRX4):c.1172C>T (p.Pro391Leu)
|
rs1175075312
|
0.00001
|
NM_016529.6(ATP8A2):c.1058-2A>G
|
rs1304832284
|
0.00001
|
NM_016592.5(GNAS):c.362C>T (p.Ser121Phe)
|
rs770140447
|
0.00001
|
NM_016630.7(SPG21):c.452+2dup
|
rs752973737
|
0.00001
|
NM_017617.5(NOTCH1):c.559G>A (p.Gly187Arg)
|
rs750295442
|
0.00001
|
NM_017721.5(CC2D1A):c.2159G>A (p.Arg720His)
|
rs1194702277
|
0.00001
|
NM_017777.4(MKS1):c.1166-2A>C
|
rs1488635637
|
0.00001
|
NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile)
|
rs794727150
|
0.00001
|
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp)
|
rs1329129099
|
0.00001
|
NM_017780.4(CHD7):c.7958G>A (p.Arg2653Gln)
|
rs747082615
|
0.00001
|
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala)
|
rs374004489
|
0.00001
|
NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys)
|
rs948532763
|
0.00001
|
NM_018082.6(POLR3B):c.665G>A (p.Arg222Gln)
|
rs2036738887
|
0.00001
|
NM_018249.6(CDK5RAP2):c.1627-18G>T
|
rs762782636
|
0.00001
|
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter)
|
rs374351172
|
0.00001
|
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter)
|
rs797045450
|
0.00001
|
NM_018896.5(CACNA1G):c.1998C>A (p.Ser666Arg)
|
rs1207224249
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)
|
rs1251713297
|
0.00001
|
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu)
|
rs964772041
|
0.00001
|
NM_020451.3(SELENON):c.482G>A (p.Arg161Gln)
|
rs765749301
|
0.00001
|
NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys)
|
rs201439531
|
0.00001
|
NM_020738.4(KIDINS220):c.2702G>A (p.Arg901Gln)
|
rs755319483
|
0.00001
|
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)
|
rs200187887
|
0.00001
|
NM_020822.3(KCNT1):c.111-2A>T
|
rs1382443844
|
0.00001
|
NM_020822.3(KCNT1):c.1402-8C>T
|
rs1303785635
|
0.00001
|
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His)
|
rs761291489
|
0.00001
|
NM_020921.4(NIN):c.6079-1686G>A
|
rs1310109020
|
0.00001
|
NM_020987.5(ANK3):c.1361A>G (p.His454Arg)
|
rs774827889
|
0.00001
|
NM_020988.3(GNAO1):c.723+4106A>G
|
rs1437835350
|
0.00001
|
NM_021008.4(DEAF1):c.1577C>T (p.Thr526Ile)
|
rs531423982
|
0.00001
|
NM_021625.5(TRPV4):c.1075G>A (p.Asp359Asn)
|
rs774779620
|
0.00001
|
NM_021814.5(ELOVL5):c.577C>T (p.Arg193Cys)
|
rs761391551
|
0.00001
|
NM_022114.4(PRDM16):c.1789G>A (p.Asp597Asn)
|
rs753255714
|
0.00001
|
NM_022114.4(PRDM16):c.3724G>A (p.Glu1242Lys)
|
rs772460000
|
0.00001
|
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe)
|
rs1297047638
|
0.00001
|
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp)
|
rs763549486
|
0.00001
|
NM_022445.4(TPK1):c.656A>G (p.Asn219Ser)
|
rs371271054
|
0.00001
|
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp)
|
rs121908359
|
0.00001
|
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu)
|
rs745882222
|
0.00001
|
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)
|
rs281864980
|
0.00001
|
NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala)
|
rs1393117824
|
0.00001
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
rs62625277
|
0.00001
|
NM_024675.4(PALB2):c.3114-130A>C
|
rs1304034435
|
0.00001
|
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys)
|
rs373287455
|
0.00001
|
NM_024757.5(EHMT1):c.592G>A (p.Val198Ile)
|
rs761554206
|
0.00001
|
NM_024757.5(EHMT1):c.670G>A (p.Val224Ile)
|
rs1288948653
|
0.00001
|
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter)
|
rs754596743
|
0.00001
|
NM_024996.7(GFM1):c.607A>G (p.Ile203Val)
|
rs1722079229
|
0.00001
|
NM_025077.4(TOE1):c.913-2A>G
|
rs779707076
|
0.00001
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.6012-2A>G
|
rs555755221
|
0.00001
|
NM_025132.4(WDR19):c.291-12_291-11del
|
rs1324399102
|
0.00001
|
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)
|
rs312262759
|
0.00001
|
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)
|
rs769898852
|
0.00001
|
NM_030662.4(MAP2K2):c.514A>G (p.Lys172Glu)
|
rs1413580671
|
0.00001
|
NM_030662.4(MAP2K2):c.661G>A (p.Asp221Asn)
|
rs2041001051
|
0.00001
|
NM_031220.4(PITPNM3):c.2510C>T (p.Ala837Val)
|
rs756226356
|
0.00001
|
NM_031307.4(PUS3):c.1048C>T (p.Gln350Ter)
|
rs1023270270
|
0.00001
|
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)
|
rs515726205
|
0.00001
|
NM_031483.7(ITCH):c.25G>C (p.Gly9Arg)
|
rs2038572425
|
0.00001
|
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe)
|
rs1375911072
|
0.00001
|
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)
|
rs781609846
|
0.00001
|
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter)
|
rs369855073
|
0.00001
|
NM_032409.3(PINK1):c.454C>T (p.Arg152Trp)
|
rs45608139
|
0.00001
|
NM_032436.4(CHAMP1):c.1339G>T (p.Asp447Tyr)
|
rs1555379738
|
0.00001
|
NM_032436.4(CHAMP1):c.170A>G (p.Lys57Arg)
|
rs782162864
|
0.00001
|
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro)
|
rs104894703
|
0.00001
|
NM_032578.4(MYPN):c.1594G>A (p.Val532Met)
|
rs760362375
|
0.00001
|
NM_032620.4(GTPBP3):c.392G>C (p.Ser131Thr)
|
rs767434617
|
0.00001
|
NM_032621.4(BEX2):c.-9C>A
|
rs1425593459
|
0.00001
|
NM_032638.5(GATA2):c.971A>G (p.Lys324Arg)
|
rs1480450110
|
0.00001
|
NM_033100.4(CDHR1):c.1114C>T (p.Pro372Ser)
|
rs143621397
|
0.00001
|
NM_033337.3(CAV3):c.65T>C (p.Ile22Thr)
|
rs763666060
|
0.00001
|
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys)
|
rs757877136
|
0.00001
|
NM_033453.4(ITPA):c.302A>G (p.His101Arg)
|
rs928104127
|
0.00001
|
NM_052874.5(STX1B):c.538-8C>T
|
rs781582150
|
0.00001
|
NM_054012.4(ASS1):c.174+1G>T
|
rs748264993
|
0.00001
|
NM_057175.5(NAA15):c.771C>G (p.Asn257Lys)
|
rs1189760005
|
0.00001
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
NM_080425.4(GNAS):c.1323C>T (p.Pro441=)
|
rs146744182
|
0.00001
|
NM_133433.4(NIPBL):c.3668A>G (p.Asp1223Gly)
|
rs775247210
|
0.00001
|
NM_133433.4(NIPBL):c.5641A>G (p.Thr1881Ala)
|
rs376084993
|
0.00001
|
NM_138326.3(ACMSD):c.677-14G>T
|
rs765944905
|
0.00001
|
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)
|
rs727504096
|
0.00001
|
NM_139276.3(STAT3):c.373C>G (p.Gln125Glu)
|
rs574370336
|
0.00001
|
NM_144596.4(TTC8):c.915del (p.Met305fs)
|
rs1431207606
|
0.00001
|
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)
|
rs774358971
|
0.00001
|
NM_152416.4(NDUFAF6):c.557_559del (p.Leu186_Tyr187delinsHis)
|
rs753367800
|
0.00001
|
NM_152416.4(NDUFAF6):c.841C>G (p.Pro281Ala)
|
rs1224421127
|
0.00001
|
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)
|
rs121434337
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_153026.3(PRICKLE1):c.2359C>T (p.Arg787Trp)
|
rs765199745
|
0.00001
|
NM_153240.5(NPHP3):c.1275+3A>T
|
rs370712498
|
0.00001
|
NM_153704.6(TMEM67):c.2908-1G>T
|
rs1423869993
|
0.00001
|
NM_153704.6(TMEM67):c.406+1349G>A
|
rs1211814341
|
0.00001
|
NM_170606.3(KMT2C):c.4030A>G (p.Ile1344Val)
|
rs945467133
|
0.00001
|
NM_170606.3(KMT2C):c.4382T>C (p.Ile1461Thr)
|
rs1254246915
|
0.00001
|
NM_170682.4(P2RX2):c.905G>C (p.Arg302Thr)
|
rs2041656946
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.768G>A (p.Val256=)
|
rs794728593
|
0.00001
|
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)
|
rs1328584680
|
0.00001
|
NM_173630.4(RTTN):c.1067T>C (p.Met356Thr)
|
rs776381467
|
0.00001
|
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)
|
rs149611886
|
0.00001
|
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)
|
rs267607017
|
0.00001
|
NM_178857.6(RP1L1):c.2720C>T (p.Ala907Val)
|
rs758561870
|
0.00001
|
NM_178857.6(RP1L1):c.3203G>A (p.Cys1068Tyr)
|
rs775897747
|
0.00001
|
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter)
|
rs775011495
|
0.00001
|
NM_182914.3(SYNE2):c.16550A>G (p.Glu5517Gly)
|
rs765353232
|
0.00001
|
NM_182914.3(SYNE2):c.20537C>T (p.Pro6846Leu)
|
rs1323584158
|
0.00001
|
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His)
|
rs1026697162
|
0.00001
|
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val)
|
rs778360818
|
0.00001
|
NM_183357.3(ADCY5):c.3613G>A (p.Val1205Met)
|
rs1938794666
|
0.00001
|
NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln)
|
rs746107537
|
0.00001
|
NM_198525.3(KIF7):c.3326C>T (p.Thr1109Met)
|
rs189960711
|
0.00001
|
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)
|
rs758361736
|
0.00001
|
NM_198578.4(LRRK2):c.2842C>T (p.Arg948Ter)
|
rs766809708
|
0.00001
|
NM_198578.4(LRRK2):c.5647T>C (p.Phe1883Leu)
|
rs762890407
|
0.00001
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
NM_201269.3(ZNF644):c.3683A>G (p.His1228Arg)
|
rs759595796
|
0.00001
|
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg)
|
rs748032685
|
0.00001
|
NM_203447.4(DOCK8):c.4241+19T>G
|
rs2056303175
|
0.00001
|
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)
|
rs768461447
|
0.00001
|
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn)
|
rs760233343
|
0.00001
|
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)
|
rs755612537
|
0.00001
|
NM_206933.4(USH2A):c.6805+195T>G
|
rs1193295201
|
0.00001
|
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter)
|
rs767978562
|
0.00001
|
NM_213599.3(ANO5):c.1180+6T>C
|
rs746314556
|
0.00001
|
NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter)
|
rs762874007
|
0.00001
|
NM_213606.4(SLC16A12):c.305-9T>C
|
rs749441853
|
0.00001
|
NM_213674.1(TPM2):c.776C>G (p.Thr259Ser)
|
rs1197412497
|
0.00001
|
GRCh37/hg19 10p15.3(chr10:751998-1748992)
|
|
|
GRCh37/hg19 12p13.33-13.32(chr12:3288857-4004582)
|
|
|
GRCh37/hg19 13q33.1(chr13:101849920-101885422)
|
|
|
GRCh37/hg19 14q24.3(chr14:76105695-76107636)
|
|
|
GRCh37/hg19 15q11.2(chr15:22503621-23091180)
|
|
|
GRCh37/hg19 15q11.2(chr15:22765628-23300287)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558)
|
|
|
GRCh37/hg19 15q25.2-25.3(chr15:85149690-85666309)
|
|
|
GRCh37/hg19 16p11.2(chr16:28861531-29031059)
|
|
|
GRCh37/hg19 16p11.2(chr16:29592783-30190568)
|
|
|
GRCh37/hg19 16p11.2(chr16:29656684-30197341)
|
|
|
GRCh37/hg19 16q24.3(chr16:89616901-89620368)
|
|
|
GRCh37/hg19 17p11.2(chr17:16782546-20294038)
|
|
|
GRCh37/hg19 17p11.2(chr17:16842163-20217777)
|
|
|
GRCh37/hg19 17p11.2(chr17:16936603-18184130)
|
|
|
GRCh37/hg19 17p12(chr17:14215739-15422582)
|
|
|
GRCh37/hg19 17p13.3(chr17:1361431-2573023)
|
|
|
GRCh37/hg19 17p13.3(chr17:2339561-2826073)
|
|
|
GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162)
|
|
|
GRCh37/hg19 17q11.2(chr17:29033882-30326958)
|
|
|
GRCh37/hg19 17q12(chr17:34611352-36248918)
|
|
|
GRCh37/hg19 18p11.32-11.31(chr18:1345040-3479168)
|
|
|
GRCh37/hg19 19p13.3(chr19:259395-3152419)
|
|
|
GRCh37/hg19 1p33-32.3(chr1:50458362-51306889)
|
|
|
GRCh37/hg19 1p36.21(chr1:13801823-14012604)
|
|
|
GRCh37/hg19 1p36.22(chr1:12019879-12028775)
|
|
|
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207)
|
|
|
GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)
|
|
|
GRCh37/hg19 1q41(chr1:215829463-219225857)
|
|
|
GRCh37/hg19 22q11.21(chr22:18894835-20311763)
|
|
|
GRCh37/hg19 22q11.21(chr22:18894835-21505417)
|
|
|
GRCh37/hg19 22q11.21(chr22:18900000-20500000)
|
|
|
GRCh37/hg19 22q11.21(chr22:21081260-21431174)
|
|
|
GRCh37/hg19 22q11.23(chr22:23720171-25065576)
|
|
|
GRCh37/hg19 2p15(chr2:61576332-62775261)
|
|
|
GRCh37/hg19 2p16.1-15(chr2:60308869-62368583)
|
|
|
GRCh37/hg19 3p26.3-26.1(chr3:93949-5427855)
|
|
|
GRCh37/hg19 3q27.1-28(chr3:184300169-188285627)
|
|
|
GRCh37/hg19 3q29(chr3:195457650-196263123)
|
|
|
GRCh37/hg19 4q13.1(chr4:65991029-66411150)
|
|
|
GRCh37/hg19 5p14.3-14.2(chr5:22308420-24492723)
|
|
|
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)
|
|
|
GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3
|
|
|
GRCh37/hg19 7q11.23(chr7:72766313-74133332)
|
|
|
GRCh37/hg19 7q11.23(chr7:72772522-74133319)
|
|
|
GRCh37/hg19 7q21.13-21.2(chr7:90054667-91313448)
|
|
|
GRCh37/hg19 7q36.3(chr7:156333296-156556779)
|
|
|
GRCh37/hg19 7q36.3(chr7:156656444-156866708)
|
|
|
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)
|
|
|
GRCh37/hg19 8p23.3-23.1(chr8:191530-6644251)
|
|
|
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)
|
|
|
GRCh37/hg19 8q23.1(chr8:109990022-110168343)
|
|
|
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
|
|
|
GRCh37/hg19 8q24.3(chr8:142840194-146280020)
|
|
|
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)
|
|
|
GRCh37/hg19 9q31.3(chr9:111624558-111812725)
|
|
|
GRCh37/hg19 Xp11.21(chrX:56488503-57276424)
|
|
|
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)
|
|
|
GRCh37/hg19 Xp22.31(chrX:6488721-8097511)
|
|
|
GRCh37/hg19 Xq13.1(chrX:68058460-68059931)
|
|
|
GRCh37/hg19 Xq27.2(chrX:140928436-141157267)
|
|
|
GRCh37/hg19 Xq28(chrX:153138672-153665655)
|
|
|
GRCh37/hg19 Xq28(chrX:153575976-153586768)
|
|
|
GRCh37/hg19 Xq28(chrX:153588672-153609996)
|
|
|
NC_000003.12:g.10133799_10141895del
|
|
|
NC_000004.12:g.39348425AAGGG[(400_2000)]
|
|
|
NC_000011.10:g.5226570_5233984del
|
|
|
NC_012920.1(MT-ATP6):m.8980C>A
|
rs2068713551
|
|
NC_012920.1(MT-ATP6):m.9035T>C
|
rs1603222000
|
|
NC_012920.1(MT-ATP6):m.9038T>C
|
rs1603222003
|
|
NC_012920.1(MT-ATP8):m.8408C>T
|
rs2068708846
|
|
NC_012920.1(MT-CO3):m.9549C>T
|
rs1603222370
|
|
NC_012920.1(MT-CYB):m.12241del
|
rs1603223633
|
|
NC_012920.1(MT-CYB):m.14701C>T
|
rs1569484669
|
|
NC_012920.1(MT-CYB):m.5885T>C
|
rs1603220164
|
|
NC_012920.1(MT-ND1):m.1658_1659dup
|
rs2068678676
|
|
NC_012920.1(MT-ND1):m.3887A>G
|
rs1603219185
|
|
NC_012920.1(MT-RNR2):m.2550A>T
|
rs2068680580
|
|
NC_012920.1(MT-TD):m.7519del
|
rs2068703930
|
|
NC_012920.1(MT-TL1):m.3290T>A
|
rs199474665
|
|
NC_012920.1:m.11360A>G
|
rs878928689
|
|
NC_012920.1:m.11443A>C
|
rs1556423952
|
|
NC_012920.1:m.14477A>G
|
rs1556424448
|
|
NC_012920.1:m.14598T>C
|
rs1057518882
|
|
NC_012920.1:m.15446C>T
|
rs1057518823
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NC_012920.1:m.8084A>G
|
rs1057518824
|
|
NC_012920.1:m.8993T>G
|
rs199476133
|
|
NC_012920.1:m.9185T>C
|
rs199476138
|
|
NC_012920.1:m.9355A>T
|
rs1556423663
|
|
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del)
|
rs387906308
|
|
NM_000019.4(ACAT1):c.575A>G (p.His192Arg)
|
rs2077528154
|
|
NM_000019.4(ACAT1):c.826+2T>G
|
rs2077590197
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.262T>G (p.Tyr88Asp)
|
rs1555152518
|
|
NM_000020.3(ACVRL1):c.352C>T (p.Gln118Ter)
|
rs1940751311
|
|
NM_000020.3(ACVRL1):c.598C>G (p.Arg200Gly)
|
rs999380946
|
|
NM_000021.4(PSEN1):c.314T>G (p.Phe105Cys)
|
rs1057518919
|
|
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile)
|
rs1566630791
|
|
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)
|
rs63750301
|
|
NM_000023.4(SGCA):c.781G>T (p.Val261Leu)
|
rs754703769
|
|
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter)
|
rs761493155
|
|
NM_000027.4(AGA):c.200_201del (p.Glu67fs)
|
rs386833420
|
|
NM_000027.4(AGA):c.507+5G>C
|
rs1472514068
|
|
NM_000033.4(ABCD1):c.1021G>A (p.Ala341Thr)
|
rs782492154
|
|
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)
|
rs1557054873
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1866-1G>C
|
rs1557055311
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
NM_000033.4(ABCD1):c.900+2T>G
|
rs2091712381
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000037.4(ANK1):c.1948A>G (p.Met650Val)
|
rs1057518790
|
|
NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter)
|
rs774067157
|
|
NM_000038.5:c.1465_1466insSVA
|
|
|
NM_000038.6(APC):c.1703G>T (p.Ser568Ile)
|
rs962373452
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.4901del (p.Pro1634fs)
|
rs1057518901
|
|
NM_000043.6(FAS):c.536T>G (p.Leu179Arg)
|
rs1554851718
|
|
NM_000044.6(AR):c.229C>T (p.Gln77Ter)
|
rs1555969528
|
|
NM_000044.6(AR):c.865G>T (p.Glu289Ter)
|
rs750324117
|
|
NM_000051.4(ATM):c.1333del (p.Gln445fs)
|
rs1060501701
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.2007T>A (p.Cys669Ter)
|
|
|
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)
|
rs1555075781
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
|
NM_000051.4(ATM):c.6082del (p.Gln2028fs)
|
rs1565499093
|
|
NM_000051.4(ATM):c.637T>C (p.Phe213Leu)
|
rs2079707663
|
|
NM_000051.4(ATM):c.689del (p.Asn230fs)
|
rs1057518965
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.7452_7453del (p.Phe2485fs)
|
|
|
NM_000051.4(ATM):c.8268+2T>C
|
rs1565544020
|
|
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)
|
rs1555137973
|
|
NM_000051.4(ATM):c.8708del (p.Pro2903fs)
|
|
|
NM_000052.7(ATP7A):c.1544-2A>T
|
rs2077751404
|
|
NM_000052.7(ATP7A):c.1555A>T (p.Ile519Leu)
|
rs1234971496
|
|
NM_000052.7(ATP7A):c.2917-13C>A
|
rs1343084607
|
|
NM_000052.7(ATP7A):c.4469dup (p.Asp1491fs)
|
rs2078084722
|
|
NM_000053.4(ATP7B):c.1231G>A (p.Glu411Lys)
|
rs886050308
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2356-16del
|
rs1257703465
|
|
NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu)
|
rs1057518867
|
|
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)
|
rs137853281
|
|
NM_000053.4(ATP7B):c.532_535del (p.Leu178fs)
|
rs1952018459
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.2063A>G (p.Tyr688Cys)
|
rs28897713
|
|
NM_000059.4(BRCA2):c.3723T>G (p.Phe1241Leu)
|
rs587782723
|
|
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del)
|
rs276174837
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter)
|
rs397507778
|
|
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)
|
rs276174859
|
|
NM_000059.4(BRCA2):c.5723_5724del (p.Leu1908fs)
|
rs886040608
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7175A>C (p.Lys2392Thr)
|
rs2072679105
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
NM_000059.4(BRCA2):c.8415ATC[1] (p.Ser2807del)
|
rs1060502398
|
|
NM_000059.4(BRCA2):c.8507C>T (p.Ser2836Phe)
|
rs863224599
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8792del (p.Asn2931fs)
|
rs2072898210
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.9874C>T (p.Pro3292Ser)
|
rs876660917
|
|
NM_000059.4(BRCA2):c.9971C>A (p.Pro3324Gln)
|
rs1593202112
|
|
NM_000061.3(BTK):c.895-12T>C
|
rs1926564625
|
|
NM_000070.3(CAPN3):c.1322del (p.Gly441fs)
|
rs1555421871
|
|
NM_000070.3(CAPN3):c.1516A>G (p.Ile506Val)
|
rs140828326
|
|
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)
|
rs886043432
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.632+5G>A
|
rs1555420508
|
|
NM_000077.5(CDKN2A):c.197A>C (p.His66Pro)
|
rs756750256
|
|
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)
|
rs104894094
|
|
NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr)
|
rs1683899724
|
|
NM_000080.4(CHRNE):c.3G>A (p.Met1Ile)
|
rs1970039895
|
|
NM_000080.4(CHRNE):c.439G>A (p.Val147Ile)
|
rs771950733
|
|
NM_000081.4(LYST):c.11038+11T>C
|
|
|
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu)
|
rs1554436510
|
|
NM_000083.3(CLCN1):c.1662_1663dup (p.His555fs)
|
rs1554438441
|
|
NM_000083.3(CLCN1):c.2284+12C>G
|
rs1472307602
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
|
rs80356690
|
|
NM_000083.3(CLCN1):c.979+1G>T
|
rs1563078827
|
|
NM_000085.5(CLCNKB):c.236A>G (p.Gln79Arg)
|
rs2023105293
|
|
NM_000088.4(COL1A1):c.103+16T>C
|
rs548069648
|
|
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)
|
rs1907516553
|
|
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)
|
rs66527965
|
|
NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser)
|
rs67693970
|
|
NM_000088.4(COL1A1):c.2490del (p.Asp831fs)
|
rs1906940130
|
|
NM_000088.4(COL1A1):c.2539G>T (p.Ala847Ser)
|
rs369455732
|
|
NM_000088.4(COL1A1):c.3168del (p.Val1057fs)
|
rs1555572254
|
|
NM_000088.4(COL1A1):c.3650G>C (p.Arg1217Pro)
|
rs762805085
|
|
NM_000088.4(COL1A1):c.727G>T (p.Glu243Ter)
|
rs1907672538
|
|
NM_000088.4(COL1A1):c.804+1G>C
|
rs1057518930
|
|
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)
|
rs72645347
|
|
NM_000089.4(COL1A2):c.2306G>T (p.Gly769Val)
|
rs72658184
|
|
NM_000089.4(COL1A2):c.2549G>A (p.Gly850Glu)
|
rs1057518967
|
|
NM_000089.4(COL1A2):c.2629G>A (p.Gly877Ser)
|
rs72658201
|
|
NM_000089.4(COL1A2):c.3854A>G (p.Asn1285Ser)
|
rs1584332850
|
|
NM_000089.4(COL1A2):c.551G>A (p.Gly184Asp)
|
rs1791793398
|
|
NM_000089.4(COL1A2):c.71-6C>A
|
rs201076141
|
|
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)
|
rs66612022
|
|
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)
|
rs587779498
|
|
NM_000090.4(COL3A1):c.1465G>T (p.Gly489Trp)
|
rs1688274473
|
|
NM_000090.4(COL3A1):c.2933G>A (p.Gly978Asp)
|
rs587779595
|
|
NM_000090.4(COL3A1):c.509C>T (p.Ala170Val)
|
rs1688080072
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000091.5(COL4A3):c.3672del (p.Pro1226fs)
|
rs2073096212
|
|
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg)
|
rs2069931154
|
|
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg)
|
rs2070035662
|
|
NM_000092.5(COL4A4):c.1163G>T (p.Gly388Val)
|
rs2060341453
|
|
NM_000092.5(COL4A4):c.3055G>C (p.Glu1019Gln)
|
rs1057518854
|
|
NM_000092.5(COL4A4):c.736-4del
|
rs750699545
|
|
NM_000093.5(COL5A1):c.1495-7T>A
|
rs1835738568
|
|
NM_000093.5(COL5A1):c.1780C>G (p.Arg594Gly)
|
rs1554792869
|
|
NM_000093.5(COL5A1):c.2646+16del
|
rs1837447151
|
|
NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter)
|
rs1837850102
|
|
NM_000093.5(COL5A1):c.2903del (p.Pro968fs)
|
rs1057518871
|
|
NM_000093.5(COL5A1):c.3760C>T (p.Pro1254Ser)
|
rs1554805125
|
|
NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs)
|
rs1839191116
|
|
NM_000093.5(COL5A1):c.5150_5158del (p.Asp1717_Glu1719del)
|
rs1554726245
|
|
NM_000093.5(COL5A1):c.608G>T (p.Gly203Val)
|
rs1554781700
|
|
NM_000093.5(COL5A1):c.808G>A (p.Gly270Ser)
|
rs1834748686
|
|
NM_000093.5(COL5A1):c.868C>G (p.Pro290Ala)
|
rs754640324
|
|
NM_000094.4(COL7A1):c.2157G>C (p.Trp719Cys)
|
rs2045549952
|
|
NM_000094.4(COL7A1):c.4048-1G>T
|
rs2045079112
|
|
NM_000094.4(COL7A1):c.5273G>A (p.Gly1758Glu)
|
rs1553857986
|
|
NM_000094.4(COL7A1):c.5532+67A>G
|
rs1553856947
|
|
NM_000094.4(COL7A1):c.8047G>A (p.Gly2683Ser)
|
rs1057518863
|
|
NM_000094.4(COL7A1):c.8156G>A (p.Gly2719Asp)
|
rs1164917118
|
|
NM_000103.4(CYP19A1):c.1263+1G>T
|
rs2031075939
|
|
NM_000108.5(DLD):c.857A>G (p.Asp286Gly)
|
rs192349677
|
|
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup)
|
rs121913031
|
|
NM_000117.3(EMD):c.184dup (p.Ser62fs)
|
rs1557182317
|
|
NM_000123.4(ERCC5):c.2929_2930del (p.Leu977fs)
|
rs1057518813
|
|
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln)
|
rs61749896
|
|
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro)
|
rs1057518910
|
|
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe)
|
rs910012804
|
|
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)
|
rs1811865335
|
|
NM_000127.3(EXT1):c.2077del (p.Ala693fs)
|
rs1823138986
|
|
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
|
rs1817877271
|
|
NM_000132.4(F8):c.461C>T (p.Thr154Ile)
|
rs2073597378
|
|
NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter)
|
rs1566918075
|
|
NM_000138.5(FBN1):c.1147G>T (p.Glu383Ter)
|
rs794728325
|
|
NM_000138.5(FBN1):c.1481G>T (p.Cys494Phe)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter)
|
rs2043683891
|
|
NM_000138.5(FBN1):c.2418A>G (p.Glu806=)
|
rs794728191
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr)
|
rs1555399144
|
|
NM_000138.5(FBN1):c.3083-2A>G
|
rs2043529474
|
|
NM_000138.5(FBN1):c.3222C>A (p.Cys1074Ter)
|
rs2043525934
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3654C>G (p.Ser1218Arg)
|
rs760712674
|
|
NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs)
|
rs2043485390
|
|
NM_000138.5(FBN1):c.3856del (p.Asp1285_Leu1286insTer)
|
rs1555398170
|
|
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)
|
rs1555397413
|
|
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg)
|
rs1057518973
|
|
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)
|
rs1131691804
|
|
NM_000138.5(FBN1):c.526dup (p.Gln176fs)
|
rs2044514951
|
|
NM_000138.5(FBN1):c.5416del (p.Cys1806fs)
|
rs1057518912
|
|
NM_000138.5(FBN1):c.5789-13G>A
|
rs777593835
|
|
NM_000138.5(FBN1):c.6053T>C (p.Val2018Ala)
|
rs2043117596
|
|
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter)
|
rs111687884
|
|
NM_000138.5(FBN1):c.6800A>T (p.Asn2267Ile)
|
rs1057518812
|
|
NM_000138.5(FBN1):c.7274A>G (p.Tyr2425Cys)
|
rs1057518809
|
|
NM_000138.5(FBN1):c.7829A>G (p.Glu2610Gly)
|
rs1555393889
|
|
NM_000138.5(FBN1):c.8016T>G (p.Cys2672Trp)
|
rs1057518883
|
|
NM_000138.5(FBN1):c.840_843del (p.Asn280fs)
|
rs1057518909
|
|
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)
|
rs121918494
|
|
NM_000141.5(FGFR2):c.2152G>C (p.Glu718Gln)
|
rs1589713974
|
|
NM_000141.5(FGFR2):c.2177C>G (p.Ala726Gly)
|
rs1458081920
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1960-16T>C
|
rs1721900734
|
|
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys)
|
rs886043613
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
|
rs121913483
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys)
|
rs121913115
|
|
NM_000143.4(FH):c.1158_1160del (p.Gln386_Val387delinsHis)
|
rs1659807516
|
|
NM_000143.4(FH):c.322C>T (p.Gln108Ter)
|
rs1060499630
|
|
NM_000143.4(FH):c.527A>G (p.His176Arg)
|
rs1158759883
|
|
NM_000145.4(FSHR):c.153-11T>A
|
rs1553340669
|
|
NM_000151.4(G6PC1):c.551G>T (p.Gly184Val)
|
rs104894569
|
|
NM_000152.5(GAA):c.1194+5G>A
|
rs2039153749
|
|
NM_000152.5(GAA):c.461G>C (p.Arg154Pro)
|
rs781124934
|
|
NM_000153.4(GALC):c.1042A>G (p.Thr348Ala)
|
rs200516260
|
|
NM_000153.4(GALC):c.196G>A (p.Ala66Thr)
|
rs1057518843
|
|
NM_000153.4(GALC):c.442+1G>A
|
rs1886976159
|
|
NM_000157.4(GBA1):c.1289C>T (p.Pro430Leu)
|
rs76910485
|
|
NM_000157.4(GBA1):c.1389-33del
|
rs1671680082
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000159.4(GCDH):c.-47G>A
|
rs952257144
|
|
NM_000161.3(GCH1):c.631_632del (p.Met211fs)
|
rs886039379
|
|
NM_000161.3(GCH1):c.655C>T (p.Gln219Ter)
|
rs1555358382
|
|
NM_000163.5(GHR):c.-12+643G>A
|
rs1742761582
|
|
NM_000165.5(GJA1):c.396_398del (p.Ile132_Lys133delinsMet)
|
rs1773903559
|
|
NM_000165.5(GJA1):c.440T>C (p.Met147Thr)
|
rs1057518872
|
|
NM_000165.5(GJA1):c.486G>C (p.Lys162Asn)
|
rs1057518960
|
|
NM_000166.6(GJB1):c.109G>T (p.Val37Leu)
|
rs1057518946
|
|
NM_000166.6(GJB1):c.502T>G (p.Cys168Gly)
|
rs1057518780
|
|
NM_000166.6(GJB1):c.584T>C (p.Leu195Pro)
|
rs1569215413
|
|
NM_000168.6(GLI3):c.1315C>T (p.Pro439Ser)
|
rs1789080071
|
|
NM_000168.6(GLI3):c.2048C>T (p.Thr683Ile)
|
rs979364849
|
|
NM_000169.3(GLA):c.688G>A (p.Ala230Thr)
|
rs1928195468
|
|
NM_000169.3(GLA):c.815A>G (p.Asn272Ser)
|
rs28935495
|
|
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr)
|
rs386833530
|
|
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs)
|
rs1817555980
|
|
NM_000171.4(GLRA1):c.106A>G (p.Met36Val)
|
rs1754101255
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.2426_2428del (p.Val809del)
|
rs587779240
|
|
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)
|
rs63749919
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)
|
rs766905993
|
|
NM_000179.3(MSH6):c.3647-1G>A
|
rs587779279
|
|
NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)
|
rs1553333598
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
NM_000180.4(GUCY2D):c.1567-15A>T
|
rs1975776690
|
|
NM_000180.4(GUCY2D):c.1974C>A (p.His658Gln)
|
rs1975872237
|
|
NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala)
|
rs1975658549
|
|
NM_000185.4(SERPIND1):c.220dup (p.Glu74fs)
|
rs1244079448
|
|
NM_000186.4(CFH):c.1336+2322TTCT[2]
|
rs151137602
|
|
NM_000190.4(HMBS):c.13G>A (p.Gly5Ser)
|
rs1565750711
|
|
NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer)
|
rs1057518886
|
|
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter)
|
rs118204120
|
|
NM_000190.4(HMBS):c.613-1G>A
|
rs771206317
|
|
NM_000190.4(HMBS):c.958del (p.Ala320fs)
|
rs1057518806
|
|
NM_000191.3(HMGCL):c.876+1G>C
|
rs779802353
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
NM_000193.4(SHH):c.593G>A (p.Cys198Tyr)
|
rs1803267843
|
|
NM_000194.3(HPRT1):c.212dup (p.Tyr72fs)
|
rs786200980
|
|
NM_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
NM_000207.3(INS):c.155C>T (p.Pro52Leu)
|
rs145038693
|
|
NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter)
|
rs1057518837
|
|
NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly)
|
rs1057518838
|
|
NM_000213.5(ITGB4):c.4014G>C (p.Gln1338His)
|
rs2061391218
|
|
NM_000214.3(JAG1):c.1613C>T (p.Ala538Val)
|
rs2067321488
|
|
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)
|
rs727504412
|
|
NM_000214.3(JAG1):c.228del (p.Val77fs)
|
rs2067506937
|
|
NM_000214.3(JAG1):c.289G>C (p.Gly97Arg)
|
rs2067506326
|
|
NM_000214.3(JAG1):c.3256G>A (p.Val1086Met)
|
rs1334024757
|
|
NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1349A>G (p.Glu450Gly)
|
rs1057518902
|
|
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)
|
rs397508109
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp)
|
rs59616921
|
|
NM_000233.4(LHCGR):c.947+4_947+7del
|
rs1572817589
|
|
NM_000235.4(LIPA):c.851C>T (p.Ser284Phe)
|
rs1261613499
|
|
NM_000236.3(LIPC):c.787A>G (p.Ile263Val)
|
rs1893514095
|
|
NM_000238.4(KCNH2):c.1394T>C (p.Val465Ala)
|
rs1057518876
|
|
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)
|
rs121912504
|
|
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)
|
rs199473524
|
|
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala)
|
rs199473009
|
|
NM_000238.4(KCNH2):c.409A>G (p.Met137Val)
|
rs1801498381
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000249.4(MLH1):c.1039-1G>T
|
|
|
NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp)
|
|
|
NM_000250.2(MPO):c.1031G>A (p.Gly344Asp)
|
rs1970460686
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)
|
rs63750088
|
|
NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)
|
|
|
NM_000252.3(MTM1):c.1644+1G>A
|
rs398123272
|
|
NM_000252.3(MTM1):c.592T>C (p.Tyr198His)
|
rs2039845128
|
|
NM_000254.3(MTR):c.610-1G>T
|
rs1661544157
|
|
NM_000255.4(MMUT):c.61G>T (p.Glu21Ter)
|
rs1767780776
|
|
NM_000256.3(MYBPC3):c.1010C>T (p.Ala337Val)
|
rs1356431718
|
|
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)
|
rs727504288
|
|
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter)
|
rs397516006
|
|
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)
|
rs187705120
|
|
NM_000256.3(MYBPC3):c.3785C>T (p.Ala1262Val)
|
rs2095877651
|
|
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)
|
rs397516080
|
|
NM_000257.4(MYH7):c.1224T>A (p.Asn408Lys)
|
rs1057518877
|
|
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)
|
rs397516127
|
|
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)
|
rs727503263
|
|
NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg)
|
rs1247313340
|
|
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2923G>A (p.Val975Met)
|
rs1892576769
|
|
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)
|
rs727505026
|
|
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys)
|
rs794727410
|
|
NM_000257.4(MYH7):c.4631T>C (p.Leu1544Pro)
|
rs1892234748
|
|
NM_000257.4(MYH7):c.4729G>A (p.Ala1577Thr)
|
rs1892202753
|
|
NM_000257.4(MYH7):c.5122G>A (p.Glu1708Lys)
|
rs1057518857
|
|
NM_000257.4(MYH7):c.5333A>C (p.His1778Pro)
|
rs1892139406
|
|
NM_000257.4(MYH7):c.5560-2A>C
|
rs1566521710
|
|
NM_000257.4(MYH7):c.5746C>T (p.Gln1916Ter)
|
rs1555335933
|
|
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)
|
rs782311929
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)
|
rs1555051455
|
|
NM_000260.4(MYO7A):c.5982G>A (p.Met1994Ile)
|
rs1957644487
|
|
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg)
|
rs1223784415
|
|
NM_000262.3(NAGA):c.759+1_759+8del
|
rs768761898
|
|
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)
|
rs483352897
|
|
NM_000264.5(PTCH1):c.2380C>T (p.Gln794Ter)
|
rs1840094606
|
|
NM_000264.5(PTCH1):c.37C>T (p.Arg13Cys)
|
rs779791579
|
|
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu)
|
rs1368334005
|
|
NM_000264.5(PTCH1):c.68C>A (p.Ala23Asp)
|
rs761204245
|
|
NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter)
|
rs1564055259
|
|
NM_000266.4(NDP):c.268C>T (p.Arg90Cys)
|
rs1057518793
|
|
NM_000266.4(NDP):c.308_311dup (p.Lys104fs)
|
rs1555976049
|
|
NM_000266.4(NDP):c.314C>T (p.Ala105Val)
|
rs1057518836
|
|
NM_000268.4(NF2):c.885+1G>A
|
rs2066581489
|
|
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter)
|
rs2059213874
|
|
NM_000271.5(NPC1):c.2050C>T (p.Leu684Phe)
|
rs1057518942
|
|
NM_000271.5(NPC1):c.2366G>A (p.Arg789His)
|
rs483352891
|
|
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly)
|
rs113371321
|
|
NM_000273.3(GPR143):c.12_36del (p.Leu6fs)
|
rs1057518787
|
|
NM_000274.4(OAT):c.875A>G (p.Lys292Arg)
|
rs1057518927
|
|
NM_000277.3(PAH):c.912+2T>C
|
rs281865449
|
|
NM_000283.4(PDE6B):c.2353-7_2353-3del
|
rs1737974000
|
|
NM_000283.4(PDE6B):c.546T>A (p.Asn182Lys)
|
rs368094720
|
|
NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys)
|
rs2063244761
|
|
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)
|
rs398123300
|
|
NM_000284.4(PDHA1):c.57+2531T>C
|
rs2063135938
|
|
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)
|
rs137853254
|
|
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr)
|
rs1057518756
|
|
NM_000284.4(PDHA1):c.998_1008+20dup
|
rs2063233544
|
|
NM_000286.3(PEX12):c.571C>A (p.Pro191Thr)
|
rs2072790056
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del)
|
rs1770436260
|
|
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro)
|
rs267608247
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)
|
rs2048489995
|
|
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)
|
rs34667348
|
|
NM_000297.4(PKD2):c.1469A>T (p.Glu490Val)
|
rs1727790126
|
|
NM_000297.4(PKD2):c.1669C>T (p.Gln557Ter)
|
rs1273223177
|
|
NM_000297.4(PKD2):c.1857del (p.Phe619fs)
|
rs1720325511
|
|
NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs)
|
rs1553927823
|
|
NM_000297.4(PKD2):c.2549A>G (p.Glu850Gly)
|
rs1721172803
|
|
NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs)
|
rs1057518797
|
|
NM_000297.4(PKD2):c.817_818del (p.Leu273fs)
|
rs1057518969
|
|
NM_000297.4(PKD2):c.872T>C (p.Leu291Pro)
|
rs1727414003
|
|
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)
|
rs200001068
|
|
NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)
|
rs1057518879
|
|
NM_000303.3(PMM2):c.256-2A>G
|
rs1057516372
|
|
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)
|
rs1555453238
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000304.4(PMP22):c.36C>A (p.His12Gln)
|
rs104894622
|
|
NM_000304.4(PMP22):c.422T>G (p.Val141Gly)
|
rs1057518804
|
|
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029
|
|
NM_000308.4(CTSA):c.736T>C (p.Cys246Arg)
|
rs1177744429
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile)
|
rs1589640376
|
|
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu)
|
rs1589596143
|
|
NM_000314.8(PTEN):c.209+1G>A
|
rs1554897280
|
|
NM_000314.8(PTEN):c.209+2T>C
|
rs878853937
|
|
NM_000314.8(PTEN):c.277C>A (p.His93Asn)
|
rs786204927
|
|
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)
|
rs587782187
|
|
NM_000314.8(PTEN):c.734A>C (p.Gln245Pro)
|
rs1057518538
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
NM_000321.3(RB1):c.1961-1G>T
|
rs1949383286
|
|
NM_000321.3(RB1):c.2246_2247del (p.Glu748_Tyr749insTer)
|
rs1949430616
|
|
NM_000321.3(RB1):c.597_601dup (p.Ala201delinsAspTer)
|
rs1555283670
|
|
NM_000321.3(RB1):c.607+1G>T
|
rs587776789
|
|
NM_000321.3(RB1):c.719-2A>T
|
rs1952654925
|
|
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)
|
rs61755787
|
|
NM_000322.5(PRPH2):c.498C>A (p.Cys166Ter)
|
rs759752477
|
|
NM_000322.5(PRPH2):c.609_625del (p.Tyr204fs)
|
rs281865372
|
|
NM_000322.5(PRPH2):c.793dup (p.Met265fs)
|
rs1800110234
|
|
NM_000327.4(ROM1):c.629A>G (p.Asp210Gly)
|
rs200287184
|
|
NM_000329.3(RPE65):c.1338+1G>A
|
rs1057518922
|
|
NM_000330.4(RS1):c.185-3221G>A
|
rs374054249
|
|
NM_000330.4(RS1):c.320G>T (p.Gly107Val)
|
rs143682861
|
|
NM_000330.4(RS1):c.649del (p.Leu217fs)
|
rs1927598075
|
|
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)
|
rs121908552
|
|
NM_000334.4(SCN4A):c.2012T>G (p.Phe671Cys)
|
rs772873287
|
|
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)
|
rs1057518865
|
|
NM_000334.4(SCN4A):c.3539A>G (p.Asn1180Ser)
|
rs1908688683
|
|
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)
|
rs80338792
|
|
NM_000334.4(SCN4A):c.703+1G>T
|
rs1909596551
|
|
NM_000334.4(SCN4A):c.739G>A (p.Val247Met)
|
rs755321637
|
|
NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter)
|
rs1057518916
|
|
NM_000335.5(SCN5A):c.1613del (p.Gly538fs)
|
rs1553704183
|
|
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)
|
rs199473161
|
|
NM_000335.5(SCN5A):c.4059_4060delinsAA (p.Asn1353_Leu1354delinsLysIle)
|
rs2061232746
|
|
NM_000335.5(SCN5A):c.5294T>A (p.Met1765Lys)
|
rs752476527
|
|
NM_000335.5(SCN5A):c.568C>T (p.Arg190Trp)
|
rs199473068
|
|
NM_000338.3(SLC12A1):c.1468T>G (p.Ser490Ala)
|
rs2041588755
|
|
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His)
|
rs2047407019
|
|
NM_000346.4(SOX9):c.710dup (p.Pro238fs)
|
rs1567911132
|
|
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)
|
rs61749423
|
|
NM_000350.3(ABCA4):c.2318A>G (p.Tyr773Cys)
|
rs764727316
|
|
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu)
|
rs61752417
|
|
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)
|
rs746541266
|
|
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)
|
rs1571264574
|
|
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)
|
rs1057518955
|
|
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)
|
rs752147871
|
|
NM_000350.3(ABCA4):c.5977del (p.Ser1993fs)
|
rs1659426620
|
|
NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile)
|
rs1057518954
|
|
NM_000350.3(ABCA4):c.67-2A>G
|
rs398123339
|
|
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)
|
rs149780335
|
|
NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser)
|
rs1057518767
|
|
NM_000350.3(ABCA4):c.785A>G (p.Asp262Gly)
|
rs1661753710
|
|
NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp)
|
rs763028380
|
|
NM_000352.6(ABCC8):c.3399+6G>A
|
rs1954472209
|
|
NM_000360.4(TH):c.818A>C (p.Glu273Ala)
|
rs1846110049
|
|
NM_000362.5(TIMP3):c.509C>G (p.Ser170Cys)
|
rs1298381884
|
|
NM_000363.5(TNNI3):c.194C>T (p.Ala65Val)
|
rs1057518784
|
|
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)
|
rs118203537
|
|
NM_000368.5(TSC1):c.1868_1877del (p.Lys623fs)
|
rs1845615656
|
|
NM_000368.5(TSC1):c.2321_2330del (p.Lys774fs)
|
rs1845446236
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)
|
rs118203707
|
|
NM_000368.5(TSC1):c.359T>C (p.Leu120Pro)
|
rs1554820262
|
|
NM_000368.5(TSC1):c.658del (p.Val220fs)
|
rs1057518945
|
|
NM_000368.5(TSC1):c.989dup (p.Ser331fs)
|
rs118203478
|
|
NM_000371.4(TTR):c.203A>C (p.Lys68Thr)
|
rs2073510120
|
|
NM_000381.4(MID1):c.1765A>G (p.Asn589Asp)
|
rs1556001939
|
|
NM_000384.3(APOB):c.2089T>G (p.Phe697Val)
|
rs1663745146
|
|
NM_000384.3(APOB):c.5893G>T (p.Glu1965Ter)
|
rs1663298665
|
|
NM_000388.4(CASR):c.1377+3G>A
|
rs199824580
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000388.4(CASR):c.2671C>T (p.Arg891Cys)
|
rs1360294910
|
|
NM_000390.4(CHM):c.539del (p.Asn180fs)
|
rs1930424354
|
|
NM_000390.4(CHM):c.75_77del (p.Ala26del)
|
rs1555968874
|
|
NM_000392.5(ABCC2):c.3417G>A (p.Met1139Ile)
|
rs752720879
|
|
NM_000393.5(COL5A2):c.2955A>G (p.Pro985=)
|
rs1685766586
|
|
NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu)
|
rs1685515304
|
|
NM_000393.5(COL5A2):c.3731T>C (p.Met1244Thr)
|
rs145100971
|
|
NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu)
|
rs1685449943
|
|
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)
|
rs1553517323
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)
|
rs72554665
|
|
NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr)
|
rs74452732
|
|
NM_000422.3(KRT17):c.960+5G>A
|
rs370554150
|
|
NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys)
|
rs267607448
|
|
NM_000424.4(KRT5):c.980T>C (p.Met327Thr)
|
rs58072617
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.2450+16A>G
|
rs1024374408
|
|
NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg)
|
rs2069361452
|
|
NM_000430.4(PAFAH1B1):c.569-9G>A
|
rs2069199944
|
|
NM_000430.4(PAFAH1B1):c.661G>A (p.Val221Met)
|
rs1262666760
|
|
NM_000432.4(MYL2):c.193G>A (p.Glu65Lys)
|
rs397516398
|
|
NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly)
|
rs1555728965
|
|
NM_000435.3(NOTCH3):c.1531T>G (p.Cys511Gly)
|
rs2046897246
|
|
NM_000435.3(NOTCH3):c.1952-6C>T
|
rs2046876259
|
|
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)
|
rs775836288
|
|
NM_000435.3(NOTCH3):c.3734C>G (p.Thr1245Ser)
|
rs2046814915
|
|
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)
|
rs137852642
|
|
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)
|
rs797045014
|
|
NM_000435.3(NOTCH3):c.679+15C>T
|
rs759323108
|
|
NM_000435.3(NOTCH3):c.865G>T (p.Gly289Cys)
|
rs1253499013
|
|
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe)
|
rs1555729346
|
|
NM_000435.3(NOTCH3):c.955G>C (p.Ala319Pro)
|
rs2046926428
|
|
NM_000440.3(PDE6A):c.2027+2T>G
|
rs1259637349
|
|
NM_000441.2(SLC26A4):c.1693T>G (p.Cys565Gly)
|
rs767255075
|
|
NM_000443.4(ABCB4):c.2161A>C (p.Asn721His)
|
rs1809631786
|
|
NM_000444.6(PHEX):c.2167_2170dup (p.Phe724Ter)
|
rs1057518896
|
|
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter)
|
rs151306376
|
|
NM_000454.5(SOD1):c.256G>A (p.Gly86Ser)
|
rs121912436
|
|
NM_000454.5(SOD1):c.95T>C (p.Val32Ala)
|
rs1428716759
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000455.5(STK11):c.375-19del
|
rs2080764943
|
|
NM_000455.5(STK11):c.716G>A (p.Trp239Ter)
|
rs730881975
|
|
NM_000455.5(STK11):c.853CTG[1] (p.Leu286del)
|
rs1057518830
|
|
NM_000460.4(THPO):c.13G>A (p.Glu5Lys)
|
rs1460650949
|
|
NM_000465.4(BARD1):c.1381G>T (p.Gly461Ter)
|
|
|
NM_000465.4(BARD1):c.1463A>G (p.Asn488Ser)
|
rs1057518894
|
|
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)
|
rs2106076340
|
|
NM_000465.4(BARD1):c.216-1G>T
|
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000474.4(TWIST1):c.152G>A (p.Gly51Glu)
|
rs1305059157
|
|
NM_000474.4(TWIST1):c.256_276del (p.Gly86_Gly92del)
|
rs544465774
|
|
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)
|
rs748476974
|
|
NM_000478.6(ALPL):c.1400T>C (p.Met467Thr)
|
rs763073466
|
|
NM_000478.6(ALPL):c.568_570del (p.Asn190del)
|
rs1644529451
|
|
NM_000478.6(ALPL):c.571G>T (p.Glu191Ter)
|
rs121918007
|
|
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)
|
rs74315483
|
|
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)
|
rs551472773
|
|
NM_000489.6(ATRX):c.3813T>G (p.Ile1271Met)
|
rs2070142302
|
|
NM_000489.6(ATRX):c.4199A>T (p.Gln1400Leu)
|
rs2069567164
|
|
NM_000489.6(ATRX):c.5026G>T (p.Gly1676Cys)
|
rs1557106484
|
|
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)
|
rs1057517948
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs)
|
rs3034796
|
|
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn)
|
rs397508198
|
|
NM_000493.4(COL10A1):c.1705A>G (p.Ile569Val)
|
rs1779078261
|
|
NM_000494.4(COL17A1):c.3071-5G>A
|
rs370589324
|
|
NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu)
|
rs2086242885
|
|
NM_000496.3(CRYBB2):c.24G>C (p.Gln8His)
|
rs1935318753
|
|
NM_000496.3(CRYBB2):c.254G>T (p.Trp85Leu)
|
rs1935450863
|
|
NM_000497.4(CYP11B1):c.1399-14G>A
|
rs5295
|
|
NM_000497.4(CYP11B1):c.766C>T (p.His256Tyr)
|
rs1816963218
|
|
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)
|
rs1794880739
|
|
NM_000501.4(ELN):c.762AGC[5] (p.Ala260dup)
|
rs782185396
|
|
NM_000503.6(EYA1):c.203C>G (p.Ala68Gly)
|
rs1822657436
|
|
NM_000503.6(EYA1):c.9G>A (p.Met3Ile)
|
rs1826704843
|
|
NM_000505.4(F12):c.983C>G (p.Thr328Arg)
|
rs118204456
|
|
NM_000507.4(FBP1):c.206A>G (p.Asp69Gly)
|
rs997295861
|
|
NM_000514.4(GDNF):c.-26G>T
|
rs1348074191
|
|
NM_000514.4(GDNF):c.390G>T (p.Leu130Phe)
|
rs1749906739
|
|
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser)
|
rs587778380
|
|
NM_000516.7(GNAS):c.296del (p.Leu99fs)
|
rs2090829910
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)
|
rs41469945
|
|
NM_000520.6(HEXA):c.460-19C>T
|
rs1680245631
|
|
NM_000523.4(HOXD13):c.709G>C (p.Gly237Arg)
|
rs1689365853
|
|
NM_000525.4(KCNJ11):c.185C>G (p.Thr62Arg)
|
rs1057518775
|
|
NM_000526.5(KRT14):c.1162C>T (p.Arg388Cys)
|
rs59966597
|
|
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
|
|
|
NM_000527.5(LDLR):c.1705+1G>T
|
rs875989926
|
|
NM_000530.8(MPZ):c.173T>A (p.Val58Asp)
|
rs1571820049
|
|
NM_000530.8(MPZ):c.392dup (p.Asn131fs)
|
|
|
NM_000530.8(MPZ):c.603dup (p.Leu202fs)
|
|
|
NM_000530.8(MPZ):c.699T>G (p.Ser233Arg)
|
rs1057518839
|
|
NM_000531.6(OTC):c.540+265G>A
|
rs1555975756
|
|
NM_000531.6(OTC):c.845A>G (p.Gln282Arg)
|
rs2068530314
|
|
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
|
rs1197317905
|
|
NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys)
|
rs2074490307
|
|
NM_000533.5(PLP1):c.49G>A (p.Ala17Thr)
|
rs797045890
|
|
NM_000533.5(PLP1):c.743C>A (p.Ala248Glu)
|
rs917348091
|
|
NM_000534.5(PMS1):c.440G>A (p.Arg147Lys)
|
rs113137368
|
|
NM_000535.7(PMS2):c.1145-2_1145-1del
|
|
|
NM_000535.7(PMS2):c.164-4C>G
|
rs876658444
|
|
NM_000535.7(PMS2):c.2007-2A>G
|
rs587782336
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
|
|
NM_000535.7(PMS2):c.2445+6T>C
|
rs1170182390
|
|
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)
|
rs141577476
|
|
NM_000535.7(PMS2):c.964G>T (p.Val322Phe)
|
rs587782208
|
|
NM_000539.3(RHO):c.260T>A (p.Val87Asp)
|
rs104893771
|
|
NM_000539.3(RHO):c.269G>A (p.Gly90Asp)
|
rs104893790
|
|
NM_000539.3(RHO):c.891C>G (p.Ser297Arg)
|
rs142285818
|
|
NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys)
|
rs774919231
|
|
NM_000540.3(RYR1):c.12047T>C (p.Leu4016Pro)
|
rs1972430121
|
|
NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser)
|
rs1057518885
|
|
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del)
|
rs1238215145
|
|
NM_000540.3(RYR1):c.12955C>T (p.Arg4319Trp)
|
rs1973350586
|
|
NM_000540.3(RYR1):c.13145G>A (p.Gly4382Asp)
|
rs1973365556
|
|
NM_000540.3(RYR1):c.13281C>G (p.His4427Gln)
|
rs1396461166
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.13746+4C>G
|
rs1973676634
|
|
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
|
rs118192135
|
|
NM_000540.3(RYR1):c.14291G>A (p.Gly4764Glu)
|
rs1974036074
|
|
NM_000540.3(RYR1):c.14713C>A (p.Pro4905Thr)
|
rs1057518924
|
|
NM_000540.3(RYR1):c.1990G>C (p.Glu664Gln)
|
rs1555769818
|
|
NM_000540.3(RYR1):c.2338dup (p.Val780fs)
|
rs1967603354
|
|
NM_000540.3(RYR1):c.6805G>C (p.Gly2269Arg)
|
rs765088913
|
|
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)
|
rs1057518940
|
|
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)
|
rs193922810
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter)
|
rs1057518773
|
|
NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg)
|
rs1555788577
|
|
NM_000545.8(HNF1A):c.1624-2A>G
|
rs1877309778
|
|
NM_000548.5(TSC2):c.1119+7T>G
|
rs778981693
|
|
NM_000548.5(TSC2):c.1583dup (p.Asp529fs)
|
rs2087032456
|
|
NM_000548.5(TSC2):c.2966+24del
|
rs1188094714
|
|
NM_000548.5(TSC2):c.2983C>A (p.Leu995Ile)
|
rs752248140
|
|
NM_000548.5(TSC2):c.3099del (p.Arg1032_Tyr1033insTer)
|
rs137854157
|
|
NM_000548.5(TSC2):c.3132-3T>C
|
rs2089821106
|
|
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)
|
rs137854210
|
|
NM_000548.5(TSC2):c.4262G>C (p.Gly1421Ala)
|
rs1368001965
|
|
NM_000548.5(TSC2):c.4473del (p.Val1492fs)
|
rs397515023
|
|
NM_000548.5(TSC2):c.4662+1G>A
|
rs45514095
|
|
NM_000548.5(TSC2):c.501G>A (p.Trp167Ter)
|
rs755728007
|
|
NM_000548.5(TSC2):c.5160+4A>C
|
rs45517403
|
|
NM_000548.5(TSC2):c.5194C>G (p.Pro1732Ala)
|
rs759007975
|
|
NM_000548.5(TSC2):c.848+281C>T
|
rs45517132
|
|
NM_000550.3(TYRP1):c.670C>T (p.His224Tyr)
|
rs1057518841
|
|
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)
|
rs5030826
|
|
NM_000551.4(VHL):c.3G>A (p.Met1Ile)
|
rs578091032
|
|
NM_000552.5(VWF):c.2442+1G>A
|
rs1944422617
|
|
NM_000552.5(VWF):c.4121G>A (p.Arg1374His)
|
rs61750072
|
|
NM_000552.5(VWF):c.7770+1G>T
|
rs200770256
|
|
NM_000553.6(WRN):c.724+1G>T
|
rs1339616347
|
|
NM_000554.6(CRX):c.139A>C (p.Thr47Pro)
|
rs1939392843
|
|
NM_000603.5(NOS3):c.284C>T (p.Thr95Ile)
|
rs1802424536
|
|
NM_000701.8(ATP1A1):c.12+727T>A
|
rs1199382060
|
|
NM_000701.8(ATP1A1):c.2542C>T (p.Arg848Trp)
|
rs1436880886
|
|
NM_000702.4(ATP1A2):c.1531A>T (p.Ile511Phe)
|
rs1651725395
|
|
NM_000702.4(ATP1A2):c.2138G>T (p.Gly713Val)
|
rs1651907492
|
|
NM_000702.4(ATP1A2):c.963C>G (p.Phe321Leu)
|
rs1651629750
|
|
NM_000709.4(BCKDHA):c.1168-1G>A
|
rs2039405116
|
|
NM_000719.7(CACNA1C):c.1217+5G>A
|
rs2099768300
|
|
NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln)
|
rs762091177
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
NM_000742.4(CHRNA2):c.1152del (p.Pro385fs)
|
rs1812569409
|
|
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro)
|
rs201922955
|
|
NM_000742.4(CHRNA2):c.987_990del (p.Glu330fs)
|
rs1812583233
|
|
NM_000747.3(CHRNB1):c.686_687insGGG (p.Gly230dup)
|
rs1908762515
|
|
NM_000747.3(CHRNB1):c.687_688insT (p.Gly230fs)
|
rs1908762801
|
|
NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu)
|
rs1057518957
|
|
NM_000751.3(CHRND):c.822del (p.Ser274fs)
|
rs1057518958
|
|
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys)
|
rs374292194
|
|
NM_000814.6(GABRB3):c.461+15T>G
|
rs1892473260
|
|
NM_000815.5(GABRD):c.337A>G (p.Ser113Gly)
|
rs1658901096
|
|
NM_000817.3(GAD1):c.92C>T (p.Thr31Ile)
|
rs1413245027
|
|
NM_000827.4(GRIA1):c.1687T>G (p.Tyr563Asp)
|
rs1758859643
|
|
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn)
|
rs876661151
|
|
NM_000834.5(GRIN2B):c.2011-18_2011-3del
|
rs1948714326
|
|
NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg)
|
rs1555103652
|
|
NM_000834.5(GRIN2B):c.2225G>T (p.Arg742Ile)
|
rs1555103646
|
|
NM_000834.5(GRIN2B):c.2395G>A (p.Gly799Ser)
|
rs1057518800
|
|
NM_000834.5(GRIN2B):c.3512G>A (p.Gly1171Glu)
|
rs1948587537
|
|
NM_000834.5(GRIN2B):c.7C>T (p.Pro3Ser)
|
rs1013552335
|
|
NM_000860.6(HPGD):c.175_176del (p.Leu59fs)
|
rs548208942
|
|
NM_000875.5(IGF1R):c.3809del (p.Met1270fs)
|
rs2017024063
|
|
NM_000883.4(IMPDH1):c.290A>G (p.Tyr97Cys)
|
rs1798694612
|
|
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro)
|
rs1057518949
|
|
NM_000883.4(IMPDH1):c.942G>T (p.Lys314Asn)
|
rs1798090540
|
|
NM_000883.4(IMPDH1):c.968A>C (p.Lys323Thr)
|
rs1798086782
|
|
NM_000890.5(KCNJ5):c.-9A>C
|
rs752992023
|
|
NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro)
|
rs1555603955
|
|
NM_000918.4(P4HB):c.1148A>T (p.Asp383Val)
|
rs2038728463
|
|
NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs)
|
rs1727004803
|
|
NM_000969.5(RPL5):c.74-1G>C
|
rs1553284997
|
|
NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs)
|
rs1832698457
|
|
NM_001003694.2(BRPF1):c.1743C>A (p.Asn581Lys)
|
rs2077026060
|
|
NM_001003800.2(BICD2):c.1667A>C (p.Tyr556Ser)
|
rs1587668748
|
|
NM_001004334.4(GPR179):c.2413G>C (p.Glu805Gln)
|
rs199619898
|
|
NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg)
|
rs1716385543
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
NM_001005242.3(PKP2):c.155dup (p.Ser53fs)
|
rs958681660
|
|
NM_001005242.3(PKP2):c.1663C>A (p.Pro555Thr)
|
rs771808028
|
|
NM_001005242.3(PKP2):c.2168-11dup
|
rs746936605
|
|
NM_001005242.3(PKP2):c.269_272del (p.Leu90fs)
|
rs397517025
|
|
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter)
|
rs760576804
|
|
NM_001005242.3(PKP2):c.466C>G (p.Pro156Ala)
|
rs794729102
|
|
NM_001005242.3(PKP2):c.502T>C (p.Tyr168His)
|
rs1956954455
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser)
|
rs121909093
|
|
NM_001005361.3(DNM2):c.1852G>T (p.Ala618Ser)
|
rs773598203
|
|
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)
|
rs2073098775
|
|
NM_001005361.3(DNM2):c.2292-8C>A
|
rs757620658
|
|
NM_001005361.3(DNM2):c.2376_2378del (p.Leu793del)
|
rs2073289554
|
|
NM_001005361.3(DNM2):c.949T>C (p.Phe317Leu)
|
rs1057518858
|
|
NM_001005373.4(LRSAM1):c.1102C>T (p.Gln368Ter)
|
rs776814240
|
|
NM_001005373.4(LRSAM1):c.175-2A>T
|
rs1035054313
|
|
NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter)
|
rs1658388636
|
|
NM_001008212.2(OPTN):c.1414T>C (p.Cys472Arg)
|
rs1833604353
|
|
NM_001008537.3(NEXMIF):c.181C>T (p.Pro61Ser)
|
rs1272191574
|
|
NM_001008537.3(NEXMIF):c.4476C>G (p.Leu1492=)
|
rs2080094874
|
|
NM_001009944.3(PKD1):c.10319del (p.Gly3440fs)
|
rs2091891993
|
|
NM_001009944.3(PKD1):c.108del (p.Cys37fs)
|
rs2092941062
|
|
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg)
|
rs1057518959
|
|
NM_001009944.3(PKD1):c.11744C>T (p.Ala3915Val)
|
rs778893944
|
|
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)
|
rs777269070
|
|
NM_001009944.3(PKD1):c.12604_12631del (p.Gly4202fs)
|
rs2091400717
|
|
NM_001009944.3(PKD1):c.1404C>G (p.Ile468Met)
|
rs755150845
|
|
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs)
|
rs1057518923
|
|
NM_001009944.3(PKD1):c.2102C>A (p.Thr701Asn)
|
rs1456789343
|
|
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp)
|
rs747483368
|
|
NM_001009944.3(PKD1):c.2720ACGTGGTGG[3] (p.Asp910_Val912dup)
|
rs2092591934
|
|
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys)
|
rs2092684130
|
|
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)
|
rs1057518899
|
|
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)
|
rs1555459345
|
|
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg)
|
rs1057518976
|
|
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter)
|
rs566014072
|
|
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)
|
rs1057518783
|
|
NM_001009944.3(PKD1):c.5848G>A (p.Val1950Met)
|
rs771669643
|
|
NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del)
|
rs1555454847
|
|
NM_001009944.3(PKD1):c.6483dup (p.Arg2162fs)
|
rs1334651902
|
|
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs)
|
rs1555453872
|
|
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del)
|
rs1555452876
|
|
NM_001009944.3(PKD1):c.7704-4G>T
|
rs778212840
|
|
NM_001009944.3(PKD1):c.7861G>T (p.Glu2621Ter)
|
rs762003393
|
|
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)
|
rs1596527370
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp)
|
rs1057518856
|
|
NM_001009944.3(PKD1):c.9656_9674del (p.Leu3219fs)
|
rs2092035920
|
|
NM_001011658.4(TRAPPC2):c.176T>C (p.Met59Thr)
|
rs2046291142
|
|
NM_001012720.2(RGR):c.679del (p.Tyr227fs)
|
rs1842908009
|
|
NM_001015877.2(PHF6):c.956G>C (p.Arg319Pro)
|
rs1556019449
|
|
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs)
|
rs80359845
|
|
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter)
|
rs762247018
|
|
NM_001018005.2(TPM1):c.391G>C (p.Glu131Gln)
|
rs2035303241
|
|
NM_001018005.2(TPM1):c.678G>C (p.Lys226Asn)
|
rs1343107860
|
|
NM_001018100.5(MYZAP):c.236C>A (p.Ser79Ter)
|
rs992189342
|
|
NM_001029.5(RPS26):c.224_225del (p.Val75fs)
|
rs1555208596
|
|
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)
|
rs367658438
|
|
NM_001029896.2(WDR45):c.598_599del (p.Leu200fs)
|
rs2065032591
|
|
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)
|
rs387907329
|
|
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)
|
rs587777569
|
|
NM_001032221.6(STXBP1):c.360del (p.Lys120fs)
|
rs1554776954
|
|
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)
|
rs794727792
|
|
NM_001032221.6(STXBP1):c.733C>G (p.His245Asp)
|
rs1554777480
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp)
|
rs200715521
|
|
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)
|
rs1557041672
|
|
NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter)
|
rs2063444025
|
|
NM_001032386.2(SUOX):c.599C>T (p.Pro200Leu)
|
rs1435587153
|
|
NM_001034116.2(EIF2B4):c.138GAA[2] (p.Lys49del)
|
rs772427644
|
|
NM_001034116.2(EIF2B4):c.414dup (p.Ser139fs)
|
rs1682104932
|
|
NM_001034853.2(RPGR):c.1506+4del
|
rs2067276668
|
|
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)
|
rs1555961852
|
|
NM_001034853.2(RPGR):c.2340_2341del (p.Arg780fs)
|
rs2067185505
|
|
NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys)
|
rs2067111489
|
|
NM_001034853.2(RPGR):c.457G>A (p.Ala153Thr)
|
rs2067875526
|
|
NM_001035.3(RYR2):c.10209dup (p.Ile3404fs)
|
rs1688657241
|
|
NM_001035.3(RYR2):c.12365_12367del (p.Ala4122del)
|
rs1695350400
|
|
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp)
|
rs794728799
|
|
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg)
|
rs1402571360
|
|
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)
|
rs794728811
|
|
NM_001035.3(RYR2):c.1709-15T>A
|
rs1663379209
|
|
NM_001035.3(RYR2):c.3023C>T (p.Ala1008Val)
|
rs1232224119
|
|
NM_001035.3(RYR2):c.9129G>T (p.Arg3043Ser)
|
rs1687847434
|
|
NM_001036.6(RYR3):c.12325del (p.Asp4109fs)
|
rs2078161593
|
|
NM_001036.6(RYR3):c.393C>A (p.Asp131Glu)
|
rs183923528
|
|
NM_001039591.3(USP9X):c.1282T>G (p.Leu428Val)
|
rs2062438835
|
|
NM_001039591.3(USP9X):c.6075C>T (p.Asn2025=)
|
rs1374013183
|
|
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr)
|
rs148409389
|
|
NM_001040108.2(MLH3):c.3034G>A (p.Ala1012Thr)
|
rs1057518875
|
|
NM_001040142.2(SCN2A):c.4801G>A (p.Val1601Met)
|
rs1553463140
|
|
NM_001040142.2(SCN2A):c.5485C>T (p.Leu1829Phe)
|
rs1553463676
|
|
NM_001040142.2(SCN2A):c.5958T>A (p.Phe1986Leu)
|
rs1702056050
|
|
NM_001040142.2(SCN2A):c.5995G>T (p.Asp1999Tyr)
|
rs1702058510
|
|
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln)
|
rs780759271
|
|
NM_001040716.2(PC):c.3306dup (p.Lys1103fs)
|
rs1324931037
|
|
NM_001042376.3(INS-IGF2):c.337A>C (p.Thr113Pro)
|
rs1860168345
|
|
NM_001042492.3(NF1):c.1527+1G>A
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1713G>A (p.Trp571Ter)
|
rs863224489
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.1882dup (p.Tyr628fs)
|
rs1555613558
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.2252-3T>G
|
rs1057518842
|
|
NM_001042492.3(NF1):c.2410-1G>A
|
rs1057518792
|
|
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)
|
rs886041347
|
|
NM_001042492.3(NF1):c.2506G>T (p.Glu836Ter)
|
rs2067066435
|
|
NM_001042492.3(NF1):c.2618G>C (p.Arg873Pro)
|
rs949092641
|
|
NM_001042492.3(NF1):c.2709G>A (p.Val903=)
|
rs771820789
|
|
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp)
|
rs1597629882
|
|
NM_001042492.3(NF1):c.3113+1G>A
|
rs267606599
|
|
NM_001042492.3(NF1):c.3496+53T>C
|
rs1555614994
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3958G>A (p.Glu1320Lys)
|
rs1273280025
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)
|
rs1555618516
|
|
NM_001042492.3(NF1):c.4252del (p.Ile1418fs)
|
rs1783539066
|
|
NM_001042492.3(NF1):c.4436del (p.Phe1479fs)
|
rs1555618803
|
|
NM_001042492.3(NF1):c.4744G>T (p.Glu1582Ter)
|
rs1167129178
|
|
NM_001042492.3(NF1):c.479+5G>T
|
rs1567818033
|
|
NM_001042492.3(NF1):c.4828dup (p.Ala1610fs)
|
rs1555619420
|
|
NM_001042492.3(NF1):c.4875C>G (p.Tyr1625Ter)
|
rs1555533285
|
|
NM_001042492.3(NF1):c.4998del (p.Pro1667fs)
|
rs1135402867
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5813-1G>A
|
rs1057518974
|
|
NM_001042492.3(NF1):c.5914dup (p.Thr1972fs)
|
rs2069606043
|
|
NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr)
|
rs1555534612
|
|
NM_001042492.3(NF1):c.616_617insGG (p.Lys206fs)
|
rs1555608663
|
|
NM_001042492.3(NF1):c.6642+1G>A
|
rs1060500345
|
|
NM_001042492.3(NF1):c.6704+2del
|
rs1555534929
|
|
NM_001042492.3(NF1):c.6819+1G>A
|
rs1555534964
|
|
NM_001042492.3(NF1):c.68del (p.Ile23fs)
|
rs1057518884
|
|
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)
|
rs1057518807
|
|
NM_001042492.3(NF1):c.7310C>A (p.Ala2437Asp)
|
rs2070078591
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
NM_001042681.2(RERE):c.241A>G (p.Lys81Glu)
|
rs1638277978
|
|
NM_001042681.2(RERE):c.3587G>A (p.Arg1196Gln)
|
rs1408948503
|
|
NM_001042681.2(RERE):c.635G>A (p.Gly212Glu)
|
rs1646009052
|
|
NM_001044.5(SLC6A3):c.1398+5G>A
|
rs1756068240
|
|
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His)
|
rs1057521250
|
|
NM_001077350.3(NPRL3):c.1359C>T (p.Ser453=)
|
rs756373989
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.700-17C>T
|
rs1946817783
|
|
NM_001077415.3(CRELD1):c.658C>T (p.Arg220Ter)
|
rs1433259474
|
|
NM_001077525.3(MTMR14):c.1174T>C (p.Phe392Leu)
|
rs2076010767
|
|
NM_001079668.3(NKX2-1):c.463+4A>G
|
rs1881201369
|
|
NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter)
|
rs121434616
|
|
NM_001080453.3(INTS1):c.3133dup (p.Thr1045fs)
|
rs1782202348
|
|
NM_001080463.1(DYNC2H1):c.7293-2_7298delAGTTACCC
|
rs1862217660
|
|
NM_001080517.3(SETD5):c.73C>G (p.Pro25Ala)
|
rs2040256204
|
|
NM_001082971.2(DDC):c.571-2A>G
|
rs2044098060
|
|
NM_001083116.3(PRF1):c.1585C>A (p.Leu529Met)
|
rs1848154029
|
|
NM_001083603.3(PTCH1):c.109del (p.Cys37fs)
|
rs1554710890
|
|
NM_001083603.3(PTCH1):c.2T>C (p.Met1Thr)
|
rs1039069537
|
|
NM_001083961.2(WDR62):c.2728C>A (p.Leu910Met)
|
rs1279068945
|
|
NM_001083962.2(TCF4):c.1146+1G>A
|
rs587784458
|
|
NM_001083962.2(TCF4):c.146-46442G>T
|
rs1164726138
|
|
NM_001083962.2(TCF4):c.1719_1722dup (p.Ala575fs)
|
rs1057518848
|
|
NM_001083962.2(TCF4):c.369+6_369+7del
|
rs773484932
|
|
NM_001083962.2(TCF4):c.500-1G>A
|
rs1057518864
|
|
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter)
|
rs878853149
|
|
NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter)
|
rs2062434410
|
|
NM_001098.3(ACO2):c.1397A>C (p.Asn466Thr)
|
rs1057518831
|
|
NM_001098.3(ACO2):c.2253dup (p.Ile752fs)
|
rs2066653512
|
|
NM_001098.3(ACO2):c.75C>T (p.Val25=)
|
rs1057518833
|
|
NM_001098511.3(KIF2A):c.82A>G (p.Met28Val)
|
rs1747612077
|
|
NM_001098816.3(TENM4):c.4681C>T (p.Arg1561Trp)
|
rs375897439
|
|
NM_001099404.2(SCN5A):c.655C>T (p.Arg219Ter)
|
rs577421914
|
|
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter)
|
rs2071063100
|
|
NM_001099922.3(ALG13):c.411G>C (p.Lys137Asn)
|
rs1057518808
|
|
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)
|
rs367543048
|
|
NM_001100.4(ACTA1):c.61G>A (p.Ala21Thr)
|
rs1659986179
|
|
NM_001100.4(ACTA1):c.809-19_809-18insA
|
rs1659946693
|
|
NM_001100913.3(PACS2):c.1381G>A (p.Asp461Asn)
|
rs2081012243
|
|
NM_001100913.3(PACS2):c.2218T>A (p.Ser740Thr)
|
rs2081364319
|
|
NM_001101.5(ACTB):c.225C>G (p.Ile75Met)
|
rs759412044
|
|
NM_001101362.3(KBTBD13):c.1183A>C (p.Thr395Pro)
|
rs2087005220
|
|
NM_001103146.3(GIGYF2):c.2489A>T (p.Glu830Val)
|
rs1327472255
|
|
NM_001105206.3(LAMA4):c.4134-1G>C
|
rs886039116
|
|
NM_001105206.3(LAMA4):c.4665+6T>C
|
rs1778270384
|
|
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter)
|
rs782178831
|
|
NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys)
|
rs2067685860
|
|
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)
|
rs28935469
|
|
NM_001110556.2(FLNA):c.622+5G>C
|
rs2067774568
|
|
NM_001110556.2(FLNA):c.7023+4A>T
|
rs1557175789
|
|
NM_001110792.2(MECP2):c.1198_1206delinsACCAGCCCCC (p.Pro400fs)
|
rs2065920670
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)
|
rs781843758
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.413+1G>T
|
rs267608463
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)
|
rs61749715
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001111.5(ADAR):c.1A>G (p.Met1Val)
|
rs1698314927
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001111.5(ADAR):c.305A>G (p.Gln102Arg)
|
rs1697938546
|
|
NM_001111125.3(IQSEC2):c.1402-15dup
|
rs781861463
|
|
NM_001111125.3(IQSEC2):c.1994C>T (p.Ala665Val)
|
rs1602283451
|
|
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=)
|
rs2074317922
|
|
NM_001111125.3(IQSEC2):c.3229C>A (p.Arg1077Ser)
|
rs782569979
|
|
NM_001111125.3(IQSEC2):c.956del (p.Leu319fs)
|
rs2074458024
|
|
NM_001112741.2(KCNC1):c.11G>A (p.Gly4Glu)
|
rs1848761561
|
|
NM_001112741.2(KCNC1):c.1660T>G (p.Tyr554Asp)
|
rs1167541162
|
|
NM_001112741.2(KCNC1):c.486T>A (p.Asp162Glu)
|
rs1436435735
|
|
NM_001113226.3(NTNG1):c.1088-13T>A
|
rs1675209293
|
|
NM_001114753.3(ENG):c.1583del (p.Pro528fs)
|
rs1554809253
|
|
NM_001122764.3(PPOX):c.1281G>A (p.Trp427Ter)
|
rs1057518798
|
|
NM_001122764.3(PPOX):c.1353T>G (p.Tyr451Ter)
|
rs148292941
|
|
NM_001122955.4(BSCL2):c.974del (p.Gly325fs)
|
rs749890533
|
|
NM_001123385.2(BCOR):c.3871C>T (p.Pro1291Ser)
|
rs1934982126
|
|
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro)
|
rs2058520816
|
|
NM_001127222.2(CACNA1A):c.1555+3_1555+6del
|
rs2058143459
|
|
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter)
|
rs2057372365
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile)
|
rs779292782
|
|
NM_001127222.2(CACNA1A):c.4089+18T>G
|
rs1600198282
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser)
|
rs1555736565
|
|
NM_001127644.2(GABRA1):c.1108C>T (p.Pro370Ser)
|
rs1424508480
|
|
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)
|
rs61752129
|
|
NM_001127671.2(LIFR):c.1886-9T>A
|
rs1744728536
|
|
NM_001127898.4(CLCN5):c.1551del (p.Gly517_Met518insTer)
|
rs1557194090
|
|
NM_001127898.4(CLCN5):c.2197A>G (p.Thr733Ala)
|
rs1934065991
|
|
NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser)
|
rs1760808820
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
NM_001128840.3(CACNA1D):c.5906C>A (p.Ala1969Asp)
|
rs2095587946
|
|
NM_001130145.3(YAP1):c.163G>T (p.Val55Leu)
|
rs1190867473
|
|
NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu)
|
rs1455085342
|
|
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val)
|
rs764844675
|
|
NM_001130438.3(SPTAN1):c.364-3C>G
|
rs1851102695
|
|
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
|
rs796053335
|
|
NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu)
|
rs1057518774
|
|
NM_001130823.3(DNMT1):c.2920C>T (p.Arg974Cys)
|
rs2089651800
|
|
NM_001130823.3(DNMT1):c.3042G>C (p.Glu1014Asp)
|
rs745780816
|
|
NM_001130987.2(DYSF):c.2444T>A (p.Met815Lys)
|
rs1553550862
|
|
NM_001130987.2(DYSF):c.2524del (p.Cys842fs)
|
rs1553551006
|
|
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr)
|
rs1572921644
|
|
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)
|
rs757713617
|
|
NM_001134407.3(GRIN2A):c.2710A>T (p.Ile904Phe)
|
rs1555482933
|
|
NM_001134407.3(GRIN2A):c.3084G>C (p.Gln1028His)
|
rs796052554
|
|
NM_001134407.3(GRIN2A):c.3199C>T (p.Arg1067Trp)
|
rs1900770162
|
|
NM_001134407.3(GRIN2A):c.3705G>C (p.Lys1235Asn)
|
rs1029138195
|
|
NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter)
|
rs1665711818
|
|
NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln)
|
rs780420901
|
|
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro)
|
rs1977160529
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001142800.2(EYS):c.4152del (p.Pro1385fs)
|
rs1185686653
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)
|
rs1554163965
|
|
NM_001145073.3(USP27X):c.719_721del (p.Phe240del)
|
rs782650755
|
|
NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter)
|
rs1347764887
|
|
NM_001145536.2(C17orf107):c.562G>C (p.Gly188Arg)
|
rs1490577163
|
|
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)
|
rs753356694
|
|
NM_001145809.2(MYH14):c.4582G>A (p.Glu1528Lys)
|
rs944541812
|
|
NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp)
|
rs116035034
|
|
NM_001145809.2(MYH14):c.6097G>C (p.Ala2033Pro)
|
rs2036794429
|
|
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro)
|
rs1215273187
|
|
NM_001145809.2(MYH14):c.6108_6111del (p.Gln2036fs)
|
rs2036795216
|
|
NM_001145809.2(MYH14):c.91C>T (p.Pro31Ser)
|
rs590722
|
|
NM_001151.4(SLC25A4):c.742G>A (p.Asp248Asn)
|
rs755597294
|
|
NM_001161352.2(KCNMA1):c.1361C>A (p.Ala454Asp)
|
rs1057518815
|
|
NM_001161352.2(KCNMA1):c.1783G>A (p.Glu595Lys)
|
rs2094532399
|
|
NM_001161352.2(KCNMA1):c.2408A>T (p.Asp803Val)
|
rs2067187945
|
|
NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys)
|
rs779739159
|
|
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup)
|
rs760628050
|
|
NM_001163435.3(TBCK):c.1351-1G>A
|
rs1759337270
|
|
NM_001164508.2(NEB):c.7362C>G (p.Asn2454Lys)
|
rs1057518861
|
|
NM_001165963.4(SCN1A):c.1028+2T>C
|
rs1698170849
|
|
NM_001165963.4(SCN1A):c.1028+5G>C
|
rs1553548057
|
|
NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)
|
rs121917920
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)
|
rs886039430
|
|
NM_001165963.4(SCN1A):c.1754G>C (p.Gly585Ala)
|
rs1225530396
|
|
NM_001165963.4(SCN1A):c.1843G>T (p.Gly615Ter)
|
rs1271824691
|
|
NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs)
|
rs1697433995
|
|
NM_001165963.4(SCN1A):c.2177-10_2177-9insA
|
rs1553543440
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)
|
rs121917965
|
|
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)
|
rs121917918
|
|
NM_001165963.4(SCN1A):c.4019T>C (p.Leu1340Pro)
|
rs1691091949
|
|
NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile)
|
rs1689685377
|
|
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)
|
rs121917976
|
|
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser)
|
rs1553520425
|
|
NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His)
|
rs1689242255
|
|
NM_001165963.4(SCN1A):c.602+3_602+6del
|
rs1698937795
|
|
NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr)
|
rs121917937
|
|
NM_001165963.4(SCN1A):c.941G>A (p.Trp314Ter)
|
rs1698574524
|
|
NM_001165963.4(SCN1A):c.971ATT[1] (p.Tyr325del)
|
rs1553548194
|
|
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met)
|
rs587777182
|
|
NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala)
|
rs1057518936
|
|
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter)
|
rs1556408009
|
|
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met)
|
rs753886912
|
|
NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg)
|
rs1888694098
|
|
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter)
|
rs397514552
|
|
NM_001170629.2(CHD8):c.410G>A (p.Gly137Asp)
|
rs752288417
|
|
NM_001170629.2(CHD8):c.5749G>A (p.Gly1917Ser)
|
rs1887663294
|
|
NM_001171.6(ABCC6):c.2836del (p.Leu946fs)
|
rs2047000316
|
|
NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)
|
rs1553544133
|
|
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs)
|
rs1692192971
|
|
NM_001172509.2(SATB2):c.1990C>T (p.Gln664Ter)
|
rs1553538917
|
|
NM_001172509.2(SATB2):c.700+17G>A
|
rs1689356095
|
|
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter)
|
rs1688736712
|
|
NM_001172509.2(SATB2):c.88A>G (p.Lys30Glu)
|
rs1574645369
|
|
NM_001174096.2(ZEB1):c.976C>T (p.Arg326Ter)
|
rs1057518956
|
|
NM_001177316.2(SLC34A3):c.980T>C (p.Leu327Pro)
|
rs1836433909
|
|
NM_001184.4(ATR):c.7399G>A (p.Val2467Ile)
|
rs144887641
|
|
NM_001184.4(ATR):c.7408A>G (p.Ile2470Val)
|
rs2070968355
|
|
NM_001184727.2(GPRASP1):c.3379G>C (p.Glu1127Gln)
|
rs1057518762
|
|
NM_001184880.2(PCDH19):c.1036A>G (p.Ile346Val)
|
rs1928413482
|
|
NM_001184880.2(PCDH19):c.1069G>C (p.Glu357Gln)
|
rs868697675
|
|
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)
|
rs758946412
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
NM_001190737.2(NFIB):c.1147T>C (p.Ser383Pro)
|
rs2038781074
|
|
NM_001194.4(HCN2):c.1889T>C (p.Leu630Pro)
|
rs1983782523
|
|
NM_001194998.2(CEP152):c.528G>A (p.Trp176Ter)
|
rs1897359016
|
|
NM_001195129.2(PRSS56):c.94del (p.Gln32fs)
|
rs1691258244
|
|
NM_001197104.2(KMT2A):c.4420T>A (p.Trp1474Arg)
|
rs1950273260
|
|
NM_001197104.2(KMT2A):c.491G>A (p.Arg164Lys)
|
rs1949894030
|
|
NM_001197104.2(KMT2A):c.4969T>G (p.Ser1657Ala)
|
rs1950329805
|
|
NM_001199107.2(TBC1D24):c.1205A>C (p.Glu402Ala)
|
rs2065771759
|
|
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu)
|
rs2065782431
|
|
NM_001199198.3(TBC1D23):c.1687+1G>C
|
rs1553731603
|
|
NM_001199267.2(DGKZ):c.2062C>T (p.Arg688Cys)
|
rs1236003340
|
|
NM_001199397.3(NEK1):c.1496A>T (p.Asp499Val)
|
rs1762076570
|
|
NM_001199397.3(NEK1):c.893del (p.Asn298fs)
|
rs1765802748
|
|
NM_001199799.2(ILDR1):c.745del (p.Ser249fs)
|
rs571007078
|
|
NM_001201543.2(FAM161A):c.294del (p.Lys98_Val99insTer)
|
rs762087385
|
|
NM_001205293.3(CACNA1E):c.2105C>T (p.Ala702Val)
|
rs1654707104
|
|
NM_001205293.3(CACNA1E):c.6605G>A (p.Ser2202Asn)
|
rs1662014050
|
|
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)
|
rs763941231
|
|
NM_001206744.2(TPO):c.1430_1450del (p.Ala477_Asn483del)
|
rs1670957669
|
|
NM_001206744.2(TPO):c.1558C>T (p.His520Tyr)
|
rs1057518950
|
|
NM_001206744.2(TPO):c.1747G>T (p.Gly583Cys)
|
rs1671335901
|
|
NM_001242896.3(DEPDC5):c.1395dup (p.Val466fs)
|
rs2088167973
|
|
NM_001242896.3(DEPDC5):c.2500C>G (p.Pro834Ala)
|
rs1569067813
|
|
NM_001242896.3(DEPDC5):c.2633+3G>A
|
rs2091504417
|
|
NM_001242896.3(DEPDC5):c.3758A>G (p.Tyr1253Cys)
|
rs2092987722
|
|
NM_001243133.2(NLRP3):c.1799A>G (p.Gln600Arg)
|
rs1057518827
|
|
NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn)
|
rs876660975
|
|
NM_001243230.2(TCF4):c.58A>G (p.Lys20Glu)
|
rs2097674336
|
|
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)
|
rs747228733
|
|
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)
|
rs1057518760
|
|
NM_001244008.2(KIF1A):c.393C>A (p.Asn131Lys)
|
rs35139906
|
|
NM_001244008.2(KIF1A):c.4537C>G (p.Leu1513Val)
|
rs2045537723
|
|
NM_001244008.2(KIF1A):c.527C>T (p.Pro176Leu)
|
rs2054754659
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs)
|
rs2031777349
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001253852.3(AP4B1):c.1510+2T>C
|
rs1667449135
|
|
NM_001256071.3(RNF213):c.1112+6G>A
|
rs1411900717
|
|
NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu)
|
rs1555673862
|
|
NM_001256071.3(RNF213):c.2502-11_2502-10del
|
rs751005876
|
|
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)
|
rs727503493
|
|
NM_001256447.2(BCAP31):c.119T>C (p.Leu40Pro)
|
rs1057518852
|
|
NM_001256789.3(CACNA1F):c.2624T>A (p.Val875Glu)
|
rs2065752304
|
|
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)
|
rs1057518829
|
|
NM_001257180.2(SLC20A2):c.99del (p.Phe33fs)
|
rs1807706006
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs)
|
rs1689596670
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.11444A>C (p.Lys3815Thr)
|
rs1184657184
|
|
NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser)
|
rs1057518931
|
|
NM_001267550.2(TTN):c.16212G>C (p.Arg5404Ser)
|
rs758704167
|
|
NM_001267550.2(TTN):c.17278del (p.Thr5760fs)
|
rs2080494323
|
|
NM_001267550.2(TTN):c.18055_18056del (p.Gln6019fs)
|
rs2080219754
|
|
NM_001267550.2(TTN):c.20836+1G>A
|
rs1553915256
|
|
NM_001267550.2(TTN):c.27152G>C (p.Ser9051Thr)
|
rs2076871733
|
|
NM_001267550.2(TTN):c.27328+19C>G
|
rs974890499
|
|
NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro)
|
rs766638714
|
|
NM_001267550.2(TTN):c.30683-28_30683-16del
|
rs764830728
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
NM_001267550.2(TTN):c.34708+8C>A
|
rs762808097
|
|
NM_001267550.2(TTN):c.35265dup (p.Pro11756fs)
|
rs1198364572
|
|
NM_001267550.2(TTN):c.47961del (p.Gly15988fs)
|
rs1553707780
|
|
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)
|
rs751502842
|
|
NM_001267550.2(TTN):c.52102+5G>A
|
rs886042399
|
|
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs)
|
rs2050860445
|
|
NM_001267550.2(TTN):c.68824+1G>A
|
rs112484439
|
|
NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter)
|
rs1057518851
|
|
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs)
|
rs1312613088
|
|
NM_001267550.2(TTN):c.8894C>A (p.Thr2965Lys)
|
rs1221486073
|
|
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)
|
rs190282707
|
|
NM_001267550.2(TTN):c.96887C>T (p.Thr32296Ile)
|
rs773279450
|
|
NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser)
|
rs1693772565
|
|
NM_001270.4(CHD1):c.2848A>G (p.Thr950Ala)
|
rs1750226720
|
|
NM_001270974.2(HYDIN):c.11304del (p.Lys3768fs)
|
rs2039914110
|
|
NM_001271.4(CHD2):c.3734+20A>G
|
rs765676490
|
|
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His)
|
rs1427359303
|
|
NM_001271.4(CHD2):c.4963C>A (p.Pro1655Thr)
|
rs2054514484
|
|
NM_001271.4(CHD2):c.692+10A>G
|
rs370469675
|
|
NM_001271.4(CHD2):c.949A>G (p.Ile317Val)
|
rs750380444
|
|
NM_001271938.2(MEGF8):c.3351-2A>C
|
rs2039397653
|
|
NM_001273.5(CHD4):c.2478T>G (p.Asn826Lys)
|
rs1948434895
|
|
NM_001273.5(CHD4):c.4674A>G (p.Pro1558=)
|
rs1948192528
|
|
NM_001276345.2(TNNT2):c.451del (p.Arg151fs)
|
rs730881115
|
|
NM_001276345.2(TNNT2):c.46C>A (p.Gln16Lys)
|
rs1660718949
|
|
NM_001277115.2(DNAH11):c.5094+4A>G
|
rs769984539
|
|
NM_001277115.2(DNAH11):c.5699_5700del (p.Thr1900fs)
|
rs1783410926
|
|
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)
|
rs137852524
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001282531.3(ADNP):c.2573C>G (p.Ala858Gly)
|
rs1980835532
|
|
NM_001282531.3(ADNP):c.3304G>A (p.Ala1102Thr)
|
rs750407672
|
|
NM_001282531.3(ADNP):c.64dup (p.Ile22fs)
|
rs1982229334
|
|
NM_001286577.2(C2CD3):c.2220G>A (p.Met740Ile)
|
rs1956396903
|
|
NM_001286704.2(UFM1):c.-273_-271del
|
rs747359907
|
|
NM_001287.6(CLCN7):c.1688C>A (p.Thr563Lys)
|
rs2038701269
|
|
NM_001288705.3(CSF1R):c.2916C>G (p.Cys972Trp)
|
rs771254626
|
|
NM_001291303.3(FAT4):c.14404C>T (p.Pro4802Ser)
|
rs1727627190
|
|
NM_001291303.3(FAT4):c.5944A>G (p.Ser1982Gly)
|
rs746510253
|
|
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)
|
rs1057518422
|
|
NM_001297.5(CNGB1):c.1418A>G (p.Asp473Gly)
|
rs769808679
|
|
NM_001297.5(CNGB1):c.1741A>G (p.Lys581Glu)
|
rs1960999459
|
|
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)
|
rs104893617
|
|
NM_001303052.2(MYT1L):c.2818G>A (p.Ala940Thr)
|
rs1428977723
|
|
NM_001308093.3(GATA4):c.786+16G>T
|
rs200555437
|
|
NM_001308210.2(TSHZ1):c.2127C>G (p.Asp709Glu)
|
rs549076959
|
|
NM_001318852.2(MAPK8IP3):c.1873C>T (p.Arg625Trp)
|
rs1053152286
|
|
NM_001318852.2(MAPK8IP3):c.2819+1G>A
|
rs1347784703
|
|
NM_001318852.2(MAPK8IP3):c.3461C>G (p.Ala1154Gly)
|
rs372037148
|
|
NM_001320752.2(STS):c.1082-18T>C
|
rs1927373599
|
|
NM_001323289.2(CDKL5):c.1471_1472dup (p.Leu492fs)
|
rs1057518759
|
|
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)
|
rs587783405
|
|
NM_001329943.3(KIAA0586):c.1629G>A (p.Trp543Ter)
|
rs2040056901
|
|
NM_001330078.2(NRXN1):c.3365-109952G>T
|
rs2078036798
|
|
NM_001330078.2(NRXN1):c.4444G>A (p.Val1482Ile)
|
rs1668291297
|
|
NM_001330078.2(NRXN1):c.772+1116A>G
|
rs1670472537
|
|
NM_001330260.2(SCN8A):c.197C>A (p.Pro66His)
|
rs1940955829
|
|
NM_001330260.2(SCN8A):c.2563G>A (p.Ala855Thr)
|
rs1555225784
|
|
NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys)
|
rs1942828530
|
|
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)
|
rs1555228665
|
|
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn)
|
rs1023188648
|
|
NM_001330288.2(SMARCC2):c.1926+1G>A
|
rs1555221275
|
|
NM_001330288.2(SMARCC2):c.3221dup (p.Gly1075fs)
|
rs752001894
|
|
NM_001330288.2(SMARCC2):c.434G>C (p.Cys145Ser)
|
rs1876933164
|
|
NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs)
|
rs1643642110
|
|
NM_001330311.2(DVL1):c.2078_*7del (p.Asp693_Ter696delinsXaa)
|
rs1643562079
|
|
NM_001330574.2(ZNF711):c.569ATG[5] (p.Asp195del)
|
rs746649683
|
|
NM_001330588.2(TPP2):c.1678+11G>C
|
rs1882384267
|
|
NM_001330691.3(CEP78):c.1601T>G (p.Phe534Cys)
|
rs1827411654
|
|
NM_001347721.2(DYRK1A):c.1289del (p.Ala430fs)
|
rs2053564046
|
|
NM_001347721.2(DYRK1A):c.1357_1358insTC (p.Tyr453fs)
|
rs2053566582
|
|
NM_001347721.2(DYRK1A):c.924+4_924+7del
|
rs1555984461
|
|
NM_001348323.3(TRIP12):c.1037A>G (p.Lys346Arg)
|
rs2056267716
|
|
NM_001348323.3(TRIP12):c.1381C>A (p.Pro461Thr)
|
rs771031325
|
|
NM_001348323.3(TRIP12):c.4368dup (p.Asn1457fs)
|
rs2041642562
|
|
NM_001349338.3(FOXP1):c.1396C>G (p.Pro466Ala)
|
rs1057518926
|
|
NM_001349338.3(FOXP1):c.1507C>T (p.Arg503Ter)
|
rs797045584
|
|
NM_001349338.3(FOXP1):c.1573C>T (p.Arg525Ter)
|
rs112795301
|
|
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val)
|
rs2050412325
|
|
NM_001354604.2(MITF):c.1150G>T (p.Ala384Ser)
|
rs202020443
|
|
NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys)
|
rs1057518765
|
|
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)
|
rs104893746
|
|
NM_001354768.3(NRL):c.448_466dup (p.Glu156fs)
|
rs1555339028
|
|
NM_001355436.2(SPTB):c.5794_5798+6del
|
rs1555367318
|
|
NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter)
|
rs766409654
|
|
NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter)
|
rs2063876197
|
|
NM_001356.5(DDX3X):c.857C>A (p.Ala286Asp)
|
rs2063889955
|
|
NM_001360.3(DHCR7):c.655T>C (p.Tyr219His)
|
rs779896782
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001360.3(DHCR7):c.964-1G>T
|
rs138659167
|
|
NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu)
|
rs1057518975
|
|
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)
|
rs2071733846
|
|
NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs)
|
rs1555380716
|
|
NM_001365276.2(TNXB):c.6349_6352del (p.Val2117fs)
|
rs754439905
|
|
NM_001365536.1(SCN9A):c.2299C>T (p.Pro767Ser)
|
rs199715588
|
|
NM_001365536.1(SCN9A):c.3328T>C (p.Ser1110Pro)
|
rs1553486581
|
|
NM_001365536.1(SCN9A):c.4243G>A (p.Ala1415Thr)
|
rs1694897566
|
|
NM_001365536.1(SCN9A):c.5588T>C (p.Met1863Thr)
|
rs201561928
|
|
NM_001365902.3(NFIX):c.1139C>T (p.Ser380Leu)
|
rs2017481607
|
|
NM_001365902.3(NFIX):c.1449del (p.Ile483fs)
|
rs2018057322
|
|
NM_001365902.3(NFIX):c.77del (p.Phe26fs)
|
rs2013220573
|
|
NM_001365951.3(KIF1B):c.2680C>T (p.Pro894Ser)
|
rs1553167706
|
|
NM_001365999.1(SZT2):c.772+5G>A
|
rs1651690924
|
|
NM_001366722.1(GRIP1):c.2423C>T (p.Ser808Leu)
|
rs1244319253
|
|
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp)
|
rs1555518955
|
|
NM_001367721.1(CASK):c.2236+1delinsAT
|
rs1555975523
|
|
NM_001367721.1(CASK):c.2243A>G (p.His748Arg)
|
rs2064853222
|
|
NM_001367721.1(CASK):c.2521-2A>G
|
rs398122845
|
|
NM_001367721.1(CASK):c.916-1G>A
|
rs2066382876
|
|
NM_001367916.1(MAGT1):c.431C>T (p.Ala144Val)
|
rs2076984239
|
|
NM_001368894.2(PAX6):c.1301G>A (p.Arg434Lys)
|
rs755181141
|
|
NM_001369.3(DNAH5):c.13369T>G (p.Trp4457Gly)
|
rs1427121789
|
|
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs)
|
rs752925056
|
|
NM_001370100.5(ZMYND11):c.1294G>A (p.Glu432Lys)
|
rs1057518819
|
|
NM_001370100.5(ZMYND11):c.1342_1344del (p.Pro448del)
|
rs1250648883
|
|
NM_001370259.2(MEN1):c.1198C>T (p.Gln400Ter)
|
rs886039419
|
|
NM_001370259.2(MEN1):c.1522C>T (p.Gln508Ter)
|
rs386833403
|
|
NM_001370259.2(MEN1):c.371_372del (p.Val124fs)
|
rs1555166368
|
|
NM_001370259.2(MEN1):c.654+1del
|
rs1057518903
|
|
NM_001370466.1(NOD2):c.749G>A (p.Gly250Asp)
|
rs1437917228
|
|
NM_001370658.1(BTD):c.249+1G>A
|
rs373249212
|
|
NM_001371194.2(SEMA4D):c.652C>T (p.Arg218Ter)
|
rs776161783
|
|
NM_001371596.2(MFSD8):c.1350+2T>C
|
rs1736332381
|
|
NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter)
|
rs1763331046
|
|
NM_001371727.1(GABRB2):c.475G>T (p.Ala159Ser)
|
rs1756503149
|
|
NM_001371928.1(AHDC1):c.1285C>G (p.Pro429Ala)
|
rs2019504014
|
|
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del)
|
rs530256606
|
|
NM_001372.4(DNAH9):c.308dup (p.Leu104fs)
|
rs769795916
|
|
NM_001372044.2(SHANK3):c.3302C>T (p.Ser1101Phe)
|
rs1555910094
|
|
NM_001372044.2(SHANK3):c.4150C>T (p.Pro1384Ser)
|
rs1482351235
|
|
NM_001372066.1(TFAP2A):c.1039T>C (p.Cys347Arg)
|
rs1761890567
|
|
NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)
|
rs1554110735
|
|
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln)
|
rs867381855
|
|
NM_001374353.1(GLI2):c.146G>A (p.Gly49Glu)
|
rs1684453085
|
|
NM_001374353.1(GLI2):c.254G>C (p.Gly85Ala)
|
rs1057518803
|
|
NM_001374353.1(GLI2):c.4291T>C (p.Tyr1431His)
|
rs1683228767
|
|
NM_001374736.1(DST):c.2951G>A (p.Arg984Gln)
|
rs768679542
|
|
NM_001374828.1(ARID1B):c.1170CGG[9] (p.Gly402dup)
|
rs587779747
|
|
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs)
|
rs1131691339
|
|
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)
|
rs1057518951
|
|
NM_001374828.1(ARID1B):c.253G>T (p.Ala85Ser)
|
rs1349412123
|
|
NM_001374828.1(ARID1B):c.3814del (p.Leu1272fs)
|
rs1057518918
|
|
NM_001374828.1(ARID1B):c.4245C>G (p.Ser1415Arg)
|
rs1453138221
|
|
NM_001374828.1(ARID1B):c.4383-1G>A
|
rs886044620
|
|
NM_001374828.1(ARID1B):c.4479+1G>T
|
rs1554235041
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001374828.1(ARID1B):c.4894G>A (p.Glu1632Lys)
|
rs1340183572
|
|
NM_001374828.1(ARID1B):c.5092C>G (p.Leu1698Val)
|
rs1794104878
|
|
NM_001374828.1(ARID1B):c.6592G>T (p.Val2198Phe)
|
rs1794548648
|
|
NM_001374828.1(ARID1B):c.6898dup (p.His2300fs)
|
rs1794570475
|
|
NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter)
|
rs1057519522
|
|
NM_001376.5(DYNC1H1):c.10197+3G>A
|
rs2048529897
|
|
NM_001376.5(DYNC1H1):c.10693A>G (p.Ser3565Gly)
|
rs2048546542
|
|
NM_001376.5(DYNC1H1):c.11263G>A (p.Glu3755Lys)
|
rs2048611326
|
|
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met)
|
rs750249796
|
|
NM_001376.5(DYNC1H1):c.12368G>A (p.Arg4123Gln)
|
rs2048664099
|
|
NM_001376.5(DYNC1H1):c.13047GGA[1] (p.Glu4350del)
|
rs1555412533
|
|
NM_001376.5(DYNC1H1):c.13298A>C (p.Asp4433Ala)
|
rs1555412625
|
|
NM_001376.5(DYNC1H1):c.1802T>A (p.Ile601Asn)
|
rs1057518776
|
|
NM_001376.5(DYNC1H1):c.2538+8C>G
|
rs755060365
|
|
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)
|
rs1057518961
|
|
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)
|
rs879253979
|
|
NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)
|
rs1057518888
|
|
NM_001376.5(DYNC1H1):c.829T>G (p.Phe277Val)
|
rs1057518935
|
|
NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=)
|
rs1566996726
|
|
NM_001376.5(DYNC1H1):c.9930G>A (p.Met3310Ile)
|
rs1555411304
|
|
NM_001377.3(DYNC2H1):c.10461+1G>A
|
rs1057518898
|
|
NM_001377.3(DYNC2H1):c.6310C>T (p.Pro2104Ser)
|
rs1861751321
|
|
NM_001377.3(DYNC2H1):c.9614A>G (p.Gln3205Arg)
|
rs1555076936
|
|
NM_001377142.1(PLCB4):c.591T>A (p.Asp197Glu)
|
rs532652161
|
|
NM_001377265.1(MAPT):c.2091+16C>T
|
rs63751011
|
|
NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del)
|
rs748138546
|
|
NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp)
|
rs1681469923
|
|
NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser)
|
rs1681472341
|
|
NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter)
|
rs1029755113
|
|
NM_001378183.1(PIEZO2):c.1543T>A (p.Tyr515Asn)
|
rs777924794
|
|
NM_001378183.1(PIEZO2):c.2743G>C (p.Gly915Arg)
|
rs750411760
|
|
NM_001378183.1(PIEZO2):c.8081+19A>C
|
rs2034073823
|
|
NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del)
|
rs1555621138
|
|
NM_001378414.1(HDAC4):c.340-9C>T
|
rs2043788487
|
|
NM_001378452.1(ITPR1):c.1639G>A (p.Ala547Thr)
|
rs746128987
|
|
NM_001378452.1(ITPR1):c.2477C>T (p.Ser826Phe)
|
rs1553686424
|
|
NM_001378452.1(ITPR1):c.951+6_951+8del
|
rs2093612036
|
|
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs)
|
rs1671880064
|
|
NM_001378477.3(NYX):c.604_612dup (p.Arg202_Arg204dup)
|
rs2064376509
|
|
NM_001378615.1(CC2D2A):c.1149+1G>A
|
rs1553827236
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001378964.1(CDON):c.3389G>A (p.Ser1130Asn)
|
rs1945658522
|
|
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu)
|
rs1556619324
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_001379403.1(WDR26):c.1317T>G (p.Ser439Arg)
|
rs1673963487
|
|
NM_001379403.1(WDR26):c.1458+1G>A
|
rs1673733539
|
|
NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter)
|
rs1057518802
|
|
NM_001379500.1(COL18A1):c.3833G>T (p.Gly1278Val)
|
rs2037653033
|
|
NM_001379500.1(COL18A1):c.992dup (p.Arg332fs)
|
rs2035718735
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
NM_001382430.1(AKT1):c.567+16T>G
|
rs1892625907
|
|
NM_001382567.1(STIM1):c.1627T>A (p.Ser543Thr)
|
rs1554971682
|
|
NM_001382779.1(FBXL19):c.1205_1218del (p.His402fs)
|
rs2055660468
|
|
NM_001384125.1(BLTP1):c.1156C>T (p.Arg386Ter)
|
rs1188013106
|
|
NM_001384125.1(BLTP1):c.4118C>G (p.Ser1373Cys)
|
rs1561108343
|
|
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)
|
rs199469706
|
|
NM_001384140.1(PCDH15):c.2148_2155del (p.Phe717fs)
|
rs2094144598
|
|
NM_001384140.1(PCDH15):c.4840A>G (p.Thr1614Ala)
|
rs775845546
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.7555del (p.Ser2519fs)
|
rs1777663813
|
|
NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs)
|
rs775263897
|
|
NM_001384732.1(CPLANE1):c.8633-3T>A
|
rs1561376157
|
|
NM_001385012.1(NBEA):c.1946A>G (p.Tyr649Cys)
|
rs2066170655
|
|
NM_001385875.1(ZFYVE27):c.916C>T (p.Pro306Ser)
|
rs750236764
|
|
NM_001386298.1(CIC):c.3180-10C>G
|
rs28469564
|
|
NM_001386298.1(CIC):c.3295C>T (p.Arg1099Cys)
|
rs767502801
|
|
NM_001386298.1(CIC):c.5141del (p.Pro1714fs)
|
rs2038071036
|
|
NM_001386298.1(CIC):c.5528G>T (p.Arg1843Leu)
|
rs141269383
|
|
NM_001386298.1(CIC):c.6401G>A (p.Gly2134Glu)
|
rs2038269827
|
|
NM_001386298.1(CIC):c.7363G>T (p.Ala2455Ser)
|
rs1351480082
|
|
NM_001386298.1(CIC):c.7430C>T (p.Thr2477Met)
|
rs920388530
|
|
NM_001386393.1(PANK2):c.564G>A (p.Met188Ile)
|
rs1057518915
|
|
NM_001386795.1(DTNA):c.1743+2825dup
|
rs778058745
|
|
NM_001393504.1(MAST3):c.2041A>T (p.Lys681Ter)
|
rs2041982393
|
|
NM_001394062.1(MACF1):c.20952T>G (p.Asn6984Lys)
|
rs201053350
|
|
NM_001394062.1(MACF1):c.21604G>C (p.Glu7202Gln)
|
rs1644564326
|
|
NM_001395656.1(ROBO2):c.3379G>A (p.Glu1127Lys)
|
rs1371853103
|
|
NM_001399.5(EDA):c.826C>T (p.Arg276Cys)
|
rs387907197
|
|
NM_001416.4(EIF4A1):c.769-8A>G
|
rs373864323
|
|
NM_001429.4(EP300):c.1619A>G (p.Gln540Arg)
|
rs1057518835
|
|
NM_001429.4(EP300):c.2027G>C (p.Gly676Ala)
|
rs1555908795
|
|
NM_001429.4(EP300):c.2053+4A>T
|
rs1057518889
|
|
NM_001429.4(EP300):c.5061+4G>A
|
rs2059201364
|
|
NM_001429.4(EP300):c.7G>A (p.Glu3Lys)
|
rs181951278
|
|
NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)
|
rs1057518868
|
|
NM_001453.3(FOXC1):c.456G>T (p.Trp152Cys)
|
rs886041355
|
|
NM_001453.3(FOXC1):c.655C>T (p.Pro219Ser)
|
rs746629785
|
|
NM_001457.4(FLNB):c.2417C>A (p.Thr806Lys)
|
rs940585956
|
|
NM_001457.4(FLNB):c.644T>A (p.Ile215Asn)
|
rs2097209399
|
|
NM_001457.4(FLNB):c.7760G>T (p.Trp2587Leu)
|
rs144321868
|
|
NM_001458.4(FLNC):c.3791-1delG
|
rs1808546796
|
|
NM_001458.5(FLNC):c.2485T>G (p.Phe829Val)
|
rs758056957
|
|
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)
|
rs1114167361
|
|
NM_001458.5(FLNC):c.3799C>G (p.Arg1267Gly)
|
rs371483562
|
|
NM_001458.5(FLNC):c.7251+15T>G
|
rs1585170629
|
|
NM_001458.5(FLNC):c.790C>G (p.Pro264Ala)
|
rs1808143178
|
|
NM_001458.5(FLNC):c.7921C>T (p.Arg2641Trp)
|
rs750629528
|
|
NM_001458.5(FLNC):c.893_908del (p.Phe298fs)
|
rs1808153476
|
|
NM_001493.3(GDI1):c.1283C>T (p.Ala428Val)
|
rs1064796588
|
|
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
|
rs557327165
|
|
NM_001567.4(INPPL1):c.939+1G>A
|
rs1948786646
|
|
NM_001605.3(AARS1):c.2054T>C (p.Val685Ala)
|
rs1555539904
|
|
NM_001605.3(AARS1):c.836A>G (p.Tyr279Cys)
|
rs1960352267
|
|
NM_001613.4(ACTA2):c.1003C>G (p.Pro335Ala)
|
rs1057518929
|
|
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)
|
rs387906592
|
|
NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr)
|
rs1845812659
|
|
NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu)
|
rs1192977984
|
|
NM_001670.3(ARVCF):c.2439-2A>C
|
rs1942919466
|
|
NM_001690.4(ATP6V1A):c.1227-6A>G
|
rs1709148623
|
|
NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu)
|
rs1709239976
|
|
NM_001693.4(ATP6V1B2):c.1437T>G (p.Ile479Met)
|
rs2072895089
|
|
NM_001733.7(C1R):c.646C>A (p.Pro216Thr)
|
rs367700816
|
|
NM_001754.5(RUNX1):c.1277_1278insCCCCCCCCCCC (p.Arg427fs)
|
rs2056451263
|
|
NM_001793.6(CDH3):c.2087del (p.Asp696fs)
|
rs1961688932
|
|
NM_001796.5(CDH8):c.749G>A (p.Gly250Asp)
|
rs1962299903
|
|
NM_001813.3(CENPE):c.2132-1G>C
|
rs1754377539
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp)
|
rs1057518908
|
|
NM_001844.5(COL2A1):c.2111dup (p.Gly705fs)
|
rs1939177362
|
|
NM_001844.5(COL2A1):c.2355+1G>A
|
rs1939124946
|
|
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)
|
rs121912882
|
|
NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val)
|
rs765795867
|
|
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)
|
rs1555165245
|
|
NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)
|
rs1057518911
|
|
NM_001844.5(COL2A1):c.3690G>C (p.Glu1230Asp)
|
rs1347381176
|
|
NM_001845.6(COL4A1):c.1081A>C (p.Lys361Gln)
|
rs1879231791
|
|
NM_001845.6(COL4A1):c.1789C>T (p.Arg597Cys)
|
rs767374916
|
|
NM_001845.6(COL4A1):c.2083C>G (p.Pro695Ala)
|
rs1878244032
|
|
NM_001845.6(COL4A1):c.446C>G (p.Pro149Arg)
|
rs1879801583
|
|
NM_001846.4(COL4A2):c.1517G>A (p.Gly506Asp)
|
rs1881894360
|
|
NM_001846.4(COL4A2):c.1776+13A>G
|
rs1555330577
|
|
NM_001846.4(COL4A2):c.3397C>T (p.Pro1133Ser)
|
rs1883277373
|
|
NM_001846.4(COL4A2):c.4969G>A (p.Glu1657Lys)
|
rs1232600556
|
|
NM_001846.4(COL4A2):c.551G>A (p.Gly184Asp)
|
rs1555328401
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001848.3(COL6A1):c.814G>A (p.Gly272Ser)
|
rs398123640
|
|
NM_001849.4(COL6A2):c.1553C>G (p.Pro518Arg)
|
rs755451399
|
|
NM_001849.4(COL6A2):c.736-2A>G
|
rs1057518925
|
|
NM_001851.6(COL9A1):c.2174T>C (p.Val725Ala)
|
rs1428416801
|
|
NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter)
|
rs147237457
|
|
NM_001852.4(COL9A2):c.1555G>C (p.Asp519His)
|
rs901123053
|
|
NM_001853.4(COL9A3):c.184-2A>G
|
rs1991037713
|
|
NM_001854.4(COL11A1):c.1999-10T>C
|
rs1665243141
|
|
NM_001854.4(COL11A1):c.2590A>C (p.Asn864His)
|
rs1557897680
|
|
NM_001854.4(COL11A1):c.385G>A (p.Val129Ile)
|
rs1672174219
|
|
NM_001854.4(COL11A1):c.4031C>A (p.Pro1344Gln)
|
rs528959090
|
|
NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)
|
rs1553200431
|
|
NM_001876.4(CPT1A):c.1528C>T (p.Pro510Ser)
|
rs1279443212
|
|
NM_001879.6(MASP1):c.1809+1G>A
|
rs373254538
|
|
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu)
|
rs1554085478
|
|
NM_001904.4(CTNNB1):c.1876G>T (p.Glu626Ter)
|
rs1553632357
|
|
NM_001918.5(DBT):c.391G>A (p.Val131Met)
|
rs1663510723
|
|
NM_001927.4(DES):c.428T>C (p.Leu143Pro)
|
rs1419950518
|
|
NM_001942.4(DSG1):c.1176T>G (p.Tyr392Ter)
|
rs761241711
|
|
NM_001942.4(DSG1):c.604G>T (p.Glu202Ter)
|
rs1057518788
|
|
NM_001943.5(DSG2):c.2836A>G (p.Met946Val)
|
rs770026700
|
|
NM_001943.5(DSG2):c.803_810dup (p.Val271fs)
|
rs2073149649
|
|
NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile)
|
rs587776978
|
|
NM_001958.5(EEF1A2):c.71C>T (p.Thr24Met)
|
rs1064795618
|
|
NM_001963.6(EGF):c.803C>A (p.Thr268Lys)
|
rs1742618428
|
|
NM_001999.4(FBN2):c.2200G>C (p.Asp734His)
|
rs1751863483
|
|
NM_001999.4(FBN2):c.3592T>C (p.Cys1198Arg)
|
rs1750891403
|
|
NM_001999.4(FBN2):c.4055G>C (p.Cys1352Ser)
|
rs1750790929
|
|
NM_001999.4(FBN2):c.4712G>C (p.Cys1571Ser)
|
rs1750262781
|
|
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala)
|
rs1765343397
|
|
NM_002016.2(FLG):c.10012A>T (p.Ser3338Cys)
|
rs1553211230
|
|
NM_002016.2(FLG):c.10670G>A (p.Gly3557Glu)
|
rs142157664
|
|
NM_002016.2(FLG):c.544A>T (p.Lys182Ter)
|
rs1218912272
|
|
NM_002024.6(FMR1):c.199-2A>G
|
rs1057518850
|
|
NM_002025.4(AFF2):c.2914-15C>A
|
rs1204837598
|
|
NM_002025.4(AFF2):c.3209A>G (p.His1070Arg)
|
rs1057518785
|
|
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)
|
rs1303447354
|
|
NM_002055.5(GFAP):c.1046A>C (p.Tyr349Ser)
|
rs1057518828
|
|
NM_002055.5(GFAP):c.1171+472G>C
|
rs748860341
|
|
NM_002087.4(GRN):c.7A>G (p.Thr3Ala)
|
rs2048347394
|
|
NM_002107.7(H3-3A):c.185T>G (p.Leu62Arg)
|
rs1657902836
|
|
NM_002148.4(HOXD10):c.684G>C (p.Glu228Asp)
|
rs1378675941
|
|
NM_002160.4(TNC):c.6496-18del
|
rs1419724369
|
|
NM_002160.4(TNC):c.890A>G (p.Asn297Ser)
|
rs1554717312
|
|
NM_002168.4(IDH2):c.207+5T>C
|
rs1901036129
|
|
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)
|
rs1057518943
|
|
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)
|
rs972425138
|
|
NM_002181.4(IHH):c.316C>A (p.Arg106Ser)
|
rs775959009
|
|
NM_002203.4(ITGA2):c.2427dup (p.Gln810fs)
|
rs1745457945
|
|
NM_002230.4(JUP):c.1807G>A (p.Val603Met)
|
rs200327969
|
|
NM_002230.4(JUP):c.73_88del (p.Gly25fs)
|
rs1916687478
|
|
NM_002234.4(KCNA5):c.1354G>A (p.Val452Ile)
|
rs1486417435
|
|
NM_002234.4(KCNA5):c.449C>T (p.Ala150Val)
|
rs1862749143
|
|
NM_002234.4(KCNA5):c.937_940dup (p.Pro314fs)
|
rs1862759649
|
|
NM_002291.3(LAMB1):c.452A>G (p.Glu151Gly)
|
rs745500256
|
|
NM_002294.3(LAMP2):c.64+16C>T
|
rs780307352
|
|
NM_002296.4(LBR):c.1639A>G (p.Asn547Asp)
|
rs587777171
|
|
NM_002296.4(LBR):c.166-12C>T
|
|
|
NM_002317.7(LOX):c.878+12G>T
|
rs1754587935
|
|
NM_002335.4(LRP5):c.2581A>T (p.Thr861Ser)
|
rs2098660901
|
|
NM_002335.4(LRP5):c.4328C>A (p.Ser1443Tyr)
|
rs926919882
|
|
NM_002381.5(MATN3):c.59TGC[3] (p.Leu23del)
|
rs749515743
|
|
NM_002397.5(MEF2C):c.965-2A>G
|
rs1759968705
|
|
NM_002398.3(MEIS1):c.1025-2A>G
|
rs1675410948
|
|
NM_002427.4(MMP13):c.206G>T (p.Arg69Leu)
|
rs558630699
|
|
NM_002449.5(MSX2):c.698dup (p.Ser234fs)
|
rs1760878980
|
|
NM_002449.5(MSX2):c.793C>T (p.His265Tyr)
|
rs1760881974
|
|
NM_002465.4(MYBPC1):c.1678G>C (p.Val560Leu)
|
rs1555242493
|
|
NM_002470.4(MYH3):c.5251A>G (p.Asn1751Asp)
|
rs2074158720
|
|
NM_002470.4(MYH3):c.5473T>C (p.Phe1825Leu)
|
rs2074140828
|
|
NM_002471.4(MYH6):c.5364G>A (p.Met1788Ile)
|
rs1890963680
|
|
NM_002472.3(MYH8):c.1640C>T (p.Thr547Met)
|
rs149040691
|
|
NM_002472.3(MYH8):c.4724T>C (p.Val1575Ala)
|
rs61730805
|
|
NM_002473.6(MYH9):c.1960C>G (p.Leu654Val)
|
rs527418116
|
|
NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly)
|
rs867593888
|
|
NM_002474.3(MYH11):c.1493A>T (p.Glu498Val)
|
rs2041772436
|
|
NM_002474.3(MYH11):c.3631C>T (p.Gln1211Ter)
|
rs2040998358
|
|
NM_002474.3(MYH11):c.4360G>C (p.Asp1454His)
|
rs1057518938
|
|
NM_002485.5(NBN):c.248T>A (p.Met83Lys)
|
rs940160589
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002487.3(NDN):c.212A>G (p.Gln71Arg)
|
rs1891161078
|
|
NM_002487.3(NDN):c.472dup (p.Thr158fs)
|
rs1891151702
|
|
NM_002529.4(NTRK1):c.1A>C (p.Met1Leu)
|
rs1655612629
|
|
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro)
|
rs1057518963
|
|
NM_002609.4(PDGFRB):c.1686C>G (p.Tyr562Ter)
|
rs570202484
|
|
NM_002609.4(PDGFRB):c.2402T>C (p.Met801Thr)
|
rs1760125256
|
|
NM_002609.4(PDGFRB):c.3241G>A (p.Glu1081Lys)
|
rs1554107047
|
|
NM_002617.4(PEX10):c.50A>G (p.Lys17Arg)
|
rs1643273662
|
|
NM_002635.4(SLC25A3):c.49C>G (p.Pro17Ala)
|
rs1294003725
|
|
NM_002637.4(PHKA1):c.678_684del (p.Val227fs)
|
rs2053626907
|
|
NM_002653.5(PITX1):c.683G>T (p.Ser228Ile)
|
rs1752403312
|
|
NM_002661.5(PLCG2):c.1558-13C>G
|
rs763441688
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
NM_002691.4(POLD1):c.1384-10A>C
|
rs2038883338
|
|
NM_002691.4(POLD1):c.2221G>A (p.Val741Met)
|
rs2039160475
|
|
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)
|
rs41550117
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp)
|
rs1556300621
|
|
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)
|
rs397507542
|
|
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys)
|
rs2038914051
|
|
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)
|
rs397507509
|
|
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
|
rs121918461
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.643-6G>A
|
rs780387568
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe)
|
rs2097834101
|
|
NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser)
|
rs2097831271
|
|
NM_002860.4(ALDH18A1):c.89-6C>G
|
rs2097895286
|
|
NM_002863.5(PYGL):c.2177+2T>C
|
rs1368182301
|
|
NM_002880.4(RAF1):c.332G>A (p.Arg111His)
|
rs996417348
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_002890.3(RASA1):c.2925+1G>A
|
rs1762099168
|
|
NM_002894.3(RBBP8):c.1457_1458del (p.Val486fs)
|
rs1915827870
|
|
NM_002905.5(RDH5):c.248dup (p.Thr84fs)
|
rs1876913255
|
|
NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val)
|
rs1962322854
|
|
NM_002972.4(SBF1):c.3826+1G>A
|
rs1009209509
|
|
NM_002979.5(SCP2):c.199G>A (p.Gly67Ser)
|
rs1553143461
|
|
NM_003000.3(SDHB):c.287-2A>G
|
rs1064794270
|
|
NM_003000.3(SDHB):c.395A>G (p.His132Arg)
|
rs74315372
|
|
NM_003011.4(SET):c.73_73+1insAAAAAGAACAGCAAGAAGCGATTGAACACATTGAT
|
rs745491546
|
|
NM_003036.4(SKI):c.347G>A (p.Gly116Glu)
|
rs387907303
|
|
NM_003070.5(SMARCA2):c.919G>A (p.Val307Met)
|
rs1819907795
|
|
NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)
|
rs1057518862
|
|
NM_003072.5(SMARCA4):c.1944-12C>A
|
rs149763341
|
|
NM_003072.5(SMARCA4):c.2092G>A (p.Val698Ile)
|
rs1600168349
|
|
NM_003072.5(SMARCA4):c.4171-1861A>G
|
rs771462690
|
|
NM_003073.5(SMARCB1):c.*82C>T
|
rs878854600
|
|
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)
|
rs1601405064
|
|
NM_003079.5(SMARCE1):c.34A>C (p.Thr12Pro)
|
rs2037247946
|
|
NM_003106.4(SOX2):c.100C>T (p.Gln34Ter)
|
rs1714841256
|
|
NM_003107.3(SOX4):c.697_708del (p.Ala233_Ser236del)
|
rs1171444727
|
|
NM_003111.5(SP3):c.2105del (p.Thr702fs)
|
rs1689439790
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.4(SPG7):c.1150+17G>A
|
rs2058351380
|
|
NM_003124.5(SPR):c.308C>G (p.Ser103Cys)
|
rs748740519
|
|
NM_003124.5(SPR):c.497G>A (p.Gly166Asp)
|
rs1404932614
|
|
NM_003126.4(SPTA1):c.2805+7T>G
|
rs1652909073
|
|
NM_003126.4(SPTA1):c.5433-132G>A
|
rs1650943500
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp)
|
rs1057518947
|
|
NM_003239.5(TGFB3):c.1190A>G (p.Lys397Arg)
|
rs2035122885
|
|
NM_003239.5(TGFB3):c.919T>C (p.Cys307Arg)
|
rs2035180317
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1355T>C (p.Leu452Pro)
|
rs1699393884
|
|
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)
|
rs104894312
|
|
NM_003289.4(TPM2):c.28A>T (p.Met10Leu)
|
rs1825152365
|
|
NM_003322.6(TULP1):c.1112+2T>G
|
rs1761066725
|
|
NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys)
|
rs551519696
|
|
NM_003322.6(TULP1):c.139G>T (p.Glu47Ter)
|
rs1761224205
|
|
NM_003334.4(UBA1):c.1027C>T (p.His343Tyr)
|
rs1936453274
|
|
NM_003334.4(UBA1):c.1630C>T (p.Arg544Trp)
|
rs1936658933
|
|
NM_003361.4(UMOD):c.552G>C (p.Trp184Cys)
|
rs1965732404
|
|
NM_003392.7(WNT5A):c.487G>C (p.Gly163Arg)
|
rs587784562
|
|
NM_003403.5(YY1):c.207CCA[7] (p.His80dup)
|
rs76675246
|
|
NM_003476.5(CSRP3):c.-28-17G>T
|
rs1850633333
|
|
NM_003477.3(PDHX):c.1204G>T (p.Asp402Tyr)
|
rs756801221
|
|
NM_003482.4(KMT2D):c.10653_10654insT (p.Ala3552fs)
|
rs1943097701
|
|
NM_003482.4(KMT2D):c.10882C>G (p.Leu3628Val)
|
rs773395827
|
|
NM_003482.4(KMT2D):c.14002A>T (p.Thr4668Ser)
|
rs946513897
|
|
NM_003482.4(KMT2D):c.14152G>A (p.Glu4718Lys)
|
rs1942759475
|
|
NM_003482.4(KMT2D):c.14575C>T (p.Gln4859Ter)
|
rs1942683224
|
|
NM_003482.4(KMT2D):c.1912C>G (p.Pro638Ala)
|
rs372919446
|
|
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu)
|
rs201623566
|
|
NM_003482.4(KMT2D):c.3798G>T (p.Glu1266Asp)
|
rs1555196013
|
|
NM_003482.4(KMT2D):c.4590G>A (p.Met1530Ile)
|
rs781202455
|
|
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs)
|
rs886043506
|
|
NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser)
|
rs1943505364
|
|
NM_003482.4(KMT2D):c.8430dup (p.Gln2811fs)
|
rs1943354738
|
|
NM_003482.4(KMT2D):c.858dup (p.Lys287Ter)
|
rs1592159924
|
|
NM_003620.4(PPM1D):c.1423del (p.Glu475fs)
|
rs1271133647
|
|
NM_003620.4(PPM1D):c.1640T>A (p.Met547Lys)
|
rs2031565605
|
|
NM_003680.4(YARS1):c.566_567del (p.Arg189fs)
|
rs1653652616
|
|
NM_003690.5(PRKRA):c.66-4_66-3insTCCCAGAGCAGGCACCGCCGAGGCCCTGCCGCTGGAGCGCGAGGACAGTGGGACCTT
|
rs1553599483
|
|
NM_003718.5(CDK13):c.484dup (p.Ala162fs)
|
rs1405252481
|
|
NM_003719.5(PDE8B):c.1576+4A>G
|
rs1794602797
|
|
NM_003719.5(PDE8B):c.2649dup (p.Asp884Ter)
|
rs1798184496
|
|
NM_003719.5(PDE8B):c.878A>G (p.Tyr293Cys)
|
rs1780697407
|
|
NM_003722.5(TP63):c.1169T>A (p.Ile390Asn)
|
rs1718128235
|
|
NM_003730.6(RNASET2):c.204-14A>G
|
rs1778856869
|
|
NM_003738.5(PTCH2):c.3185T>G (p.Val1062Gly)
|
rs1652996959
|
|
NM_003907.3(EIF2B5):c.5C>T (p.Ala2Val)
|
rs372850426
|
|
NM_003919.3(SGCE):c.776A>T (p.Asp259Val)
|
rs1799567842
|
|
NM_003922.4(HERC1):c.4847T>G (p.Met1616Arg)
|
rs2072566970
|
|
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys)
|
rs28939089
|
|
NM_003990.3(PAX2):c.213-1_225delGGTACTACGAGACC
|
rs1057518761
|
|
NM_003995.4(NPR2):c.2162_2172del (p.Ser721fs)
|
rs1057518817
|
|
NM_003995.4(NPR2):c.779A>T (p.Glu260Val)
|
rs757744435
|
|
NM_004004.6(GJB2):c.250G>A (p.Val84Met)
|
rs104894409
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004006.3(DMD):c.10086+1G>A
|
rs398123828
|
|
NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer)
|
rs886043676
|
|
NM_004006.3(DMD):c.10210dup (p.Asp3404fs)
|
rs2040821014
|
|
NM_004006.3(DMD):c.10454del (p.Leu3485fs)
|
rs398123839
|
|
NM_004006.3(DMD):c.1637G>A (p.Trp546Ter)
|
rs1057518962
|
|
NM_004006.3(DMD):c.177del (p.Gln60fs)
|
rs1057518834
|
|
NM_004006.3(DMD):c.2200T>C (p.Trp734Arg)
|
rs794727204
|
|
NM_004006.3(DMD):c.2451G>C (p.Gln817His)
|
rs1468177610
|
|
NM_004006.3(DMD):c.357+1G>A
|
rs1557058294
|
|
NM_004006.3(DMD):c.4345-3C>G
|
rs2097987224
|
|
NM_004006.3(DMD):c.4375del (p.Arg1459fs)
|
rs2097987064
|
|
NM_004006.3(DMD):c.4838G>A (p.Trp1613Ter)
|
rs1557315928
|
|
NM_004006.3(DMD):c.5203C>A (p.Arg1735Ser)
|
rs147904018
|
|
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)
|
rs398123981
|
|
NM_004006.3(DMD):c.5699T>G (p.Leu1900Ter)
|
rs1057518866
|
|
NM_004006.3(DMD):c.649+26G>T
|
rs2077186133
|
|
NM_004006.3(DMD):c.7319dup (p.Thr2441fs)
|
rs1556880327
|
|
NM_004006.3(DMD):c.93+1G>C
|
rs886042604
|
|
NM_004006.3(DMD):c.9980_9981insTAG (p.Tyr3326_Arg3327insSer)
|
rs2041040360
|
|
NM_004056.6(CA8):c.730dup (p.Gln244fs)
|
rs1807291595
|
|
NM_004082.5(DCTN1):c.1732G>A (p.Val578Met)
|
rs1674617834
|
|
NM_004082.5(DCTN1):c.581C>T (p.Pro194Leu)
|
rs1057518814
|
|
NM_004115.4(FGF14):c.429C>A (p.Cys143Ter)
|
rs2035466147
|
|
NM_004130.4(GYG1):c.955G>C (p.Glu319Gln)
|
rs1714679440
|
|
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs)
|
rs112307877
|
|
NM_004170.6(SLC1A1):c.875+8A>G
|
rs12682807
|
|
NM_004171.4(SLC1A2):c.1046C>T (p.Ala349Val)
|
rs1851035772
|
|
NM_004171.4(SLC1A2):c.609G>C (p.Glu203Asp)
|
rs1851499526
|
|
NM_004183.4(BEST1):c.313C>G (p.Arg105Gly)
|
rs281865273
|
|
NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del)
|
rs775979290
|
|
NM_004183.4(BEST1):c.969T>A (p.Asp323Glu)
|
rs1941875734
|
|
NM_004184.4(WARS1):c.770A>G (p.His257Arg)
|
rs770003315
|
|
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)
|
rs1057518895
|
|
NM_004247.4(EFTUD2):c.1861-9_1861-7del
|
rs2050611350
|
|
NM_004247.4(EFTUD2):c.2047A>T (p.Asn683Tyr)
|
rs1057518932
|
|
NM_004247.4(EFTUD2):c.2600del (p.Pro867fs)
|
rs2050473924
|
|
NM_004247.4(EFTUD2):c.294A>T (p.Lys98Asn)
|
rs2051147769
|
|
NM_004268.5(MED17):c.1433T>G (p.Leu478Ter)
|
rs1943967240
|
|
NM_004278.4(PIGL):c.176C>A (p.Pro59His)
|
rs1057518948
|
|
NM_004278.4(PIGL):c.725G>C (p.Arg242Pro)
|
rs750654333
|
|
NM_004329.3(BMPR1A):c.502ATC[1] (p.Ile169del)
|
rs1057518941
|
|
NM_004333.6(BRAF):c.1146G>C (p.Leu382Phe)
|
rs1801519948
|
|
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)
|
rs180177039
|
|
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)
|
rs397507483
|
|
NM_004333.6(BRAF):c.67A>G (p.Met23Val)
|
rs1818671266
|
|
NM_004333.6(BRAF):c.712-221T>C
|
rs1803141356
|
|
NM_004333.6(BRAF):c.755G>C (p.Arg252Pro)
|
rs1325951163
|
|
NM_004333.6(BRAF):c.789_790del (p.Cys264fs)
|
rs1803104915
|
|
NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs)
|
rs1676249686
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.583C>T (p.Gln195Ter)
|
rs1960737851
|
|
NM_004366.6(CLCN2):c.740G>T (p.Gly247Val)
|
rs1553856477
|
|
NM_004369.4(COL6A3):c.269A>T (p.Glu90Val)
|
rs2078397283
|
|
NM_004369.4(COL6A3):c.4070T>G (p.Val1357Gly)
|
rs1480888719
|
|
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His)
|
rs1769481285
|
|
NM_004370.6(COL12A1):c.1281del (p.Gln428fs)
|
rs1057518778
|
|
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu)
|
rs1253194188
|
|
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr)
|
rs1769231502
|
|
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val)
|
rs1769138600
|
|
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)
|
rs750178517
|
|
NM_004380.3(CREBBP):c.2505G>A (p.Met835Ile)
|
rs759041100
|
|
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)
|
rs1057518844
|
|
NM_004380.3(CREBBP):c.3892T>C (p.Tyr1298His)
|
rs2052315739
|
|
NM_004380.3(CREBBP):c.5611A>C (p.Thr1871Pro)
|
rs2051850835
|
|
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs)
|
rs1567263114
|
|
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg)
|
rs751739281
|
|
NM_004380.3(CREBBP):c.6185_6195del (p.Ile2062fs)
|
rs1555471098
|
|
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)
|
rs1057518789
|
|
NM_004380.3(CREBBP):c.668G>C (p.Gly223Ala)
|
rs2054806972
|
|
NM_004385.5(VCAN):c.6277G>C (p.Glu2093Gln)
|
rs756371655
|
|
NM_004385.5(VCAN):c.9918G>C (p.Lys3306Asn)
|
rs1748612637
|
|
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter)
|
rs1554093433
|
|
NM_004393.6(DAG1):c.1795C>T (p.Pro599Ser)
|
rs2051376280
|
|
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile)
|
rs141979823
|
|
NM_004408.4(DNM1):c.139G>A (p.Val47Met)
|
rs869312702
|
|
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)
|
rs780626687
|
|
NM_004415.4(DSP):c.1352G>T (p.Arg451Leu)
|
rs786204294
|
|
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)
|
rs1057518920
|
|
NM_004415.4(DSP):c.3346T>C (p.Tyr1116His)
|
rs1581815394
|
|
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)
|
rs1554108172
|
|
NM_004415.4(DSP):c.5692G>A (p.Glu1898Lys)
|
rs1759492368
|
|
NM_004415.4(DSP):c.621G>A (p.Trp207Ter)
|
rs1758734763
|
|
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys)
|
rs397516952
|
|
NM_004423.4(DVL3):c.1120G>A (p.Ala374Thr)
|
rs1714612048
|
|
NM_004423.4(DVL3):c.706A>G (p.Ser236Gly)
|
rs1714548192
|
|
NM_004425.4(ECM1):c.142del (p.Ser48fs)
|
rs1670380730
|
|
NM_004463.3(FGD1):c.1035GGA[3] (p.Glu350del)
|
rs757595052
|
|
NM_004463.3(FGD1):c.1695+1G>A
|
rs1922506770
|
|
NM_004465.2(FGF10):c.116C>A (p.Ala39Asp)
|
rs201790067
|
|
NM_004484.4(GPC3):c.737T>C (p.Leu246Pro)
|
rs2071694723
|
|
NM_004517.4(ILK):c.879G>C (p.Gln293His)
|
rs751035884
|
|
NM_004519.4(KCNQ3):c.403G>C (p.Gly135Arg)
|
rs1826949712
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004522.3(KIF5C):c.1716+9G>A
|
rs1681300053
|
|
NM_004523.4(KIF11):c.1217+14_1217+283del
|
rs1844616530
|
|
NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs)
|
rs1844907904
|
|
NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter)
|
rs1555928716
|
|
NM_004586.3(RPS6KA3):c.1959+2dup
|
rs1057518853
|
|
NM_004586.3(RPS6KA3):c.326-16dup
|
rs2068239940
|
|
NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)
|
rs1057518914
|
|
NM_004606.5(TAF1):c.5338_5339insGTAATCGATAGCAACATCAG (p.Met1780delinsSerAsnArgTer)
|
rs2038515067
|
|
NM_004608.4(TBX6):c.1277G>T (p.Gly426Val)
|
rs764233509
|
|
NM_004608.4(TBX6):c.1278C>T (p.Gly426=)
|
rs577918214
|
|
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)
|
rs386833864
|
|
NM_004646.4(NPHS1):c.2708T>C (p.Leu903Pro)
|
rs755991857
|
|
NM_004646.4(NPHS1):c.2870T>A (p.Val957Glu)
|
rs763902818
|
|
NM_004655.4(AXIN2):c.2527G>A (p.Asp843Asn)
|
rs1249731868
|
|
NM_004667.6(HERC2):c.11701-1G>A
|
rs1891259083
|
|
NM_004667.6(HERC2):c.6976del (p.Ile2325_Leu2326insTer)
|
rs1057518934
|
|
NM_004698.4(PRPF3):c.500C>T (p.Thr167Ile)
|
rs1656552502
|
|
NM_004713.6(NEMF):c.807-2A>C
|
rs1892669150
|
|
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=)
|
rs2086667654
|
|
NM_004807.3(HS6ST1):c.955T>A (p.Tyr319Asn)
|
rs1693560929
|
|
NM_004859.4(CLTC):c.1592A>T (p.Gln531Leu)
|
rs2032692372
|
|
NM_004863.4(SPTLC2):c.1009T>C (p.Tyr337His)
|
rs2079578053
|
|
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)
|
rs140451304
|
|
NM_004958.4(MTOR):c.3109C>G (p.Leu1037Val)
|
rs1646462806
|
|
NM_004958.4(MTOR):c.5171T>G (p.Met1724Arg)
|
rs1005738588
|
|
NM_004958.4(MTOR):c.7336_7341del (p.Thr2446_Asp2447del)
|
rs1641966003
|
|
NM_004959.5(NR5A1):c.88T>C (p.Cys30Arg)
|
rs1564153753
|
|
NM_004960.4(FUS):c.13+11_13+13del
|
rs1057518893
|
|
NM_004963.4(GUCY2C):c.2324T>C (p.Leu775Pro)
|
rs1947002584
|
|
NM_004975.4(KCNB1):c.935G>A (p.Arg312His)
|
rs1555889127
|
|
NM_004984.4(KIF5A):c.1056G>T (p.Lys352Asn)
|
rs769712123
|
|
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)
|
rs387907287
|
|
NM_004985.5(KRAS):c.534_536del (p.Lys180del)
|
rs1373386042
|
|
NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup)
|
rs193922928
|
|
NM_004999.4(MYO6):c.2063A>T (p.Gln688Leu)
|
rs1777294344
|
|
NM_005022.4(PFN1):c.341T>G (p.Met114Arg)
|
rs387907265
|
|
NM_005026.5(PIK3CD):c.371-18G>C
|
rs1647322437
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005027.4(PIK3R2):c.1694C>A (p.Pro565Gln)
|
rs1131691683
|
|
NM_005027.4(PIK3R2):c.1809-3_1809-2insCCCCCCG
|
rs2043834247
|
|
NM_005027.4(PIK3R2):c.64_88dup (p.Val30fs)
|
rs2043673731
|
|
NM_005045.4(RELN):c.10280+7A>G
|
rs764488118
|
|
NM_005045.4(RELN):c.3147-9C>G
|
rs1831729606
|
|
NM_005045.4(RELN):c.3463dup (p.Leu1155fs)
|
rs1831540987
|
|
NM_005045.4(RELN):c.5662G>A (p.Gly1888Arg)
|
rs1830541169
|
|
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val)
|
rs374232523
|
|
NM_005045.4(RELN):c.8195G>T (p.Cys2732Phe)
|
rs777843062
|
|
NM_005068.3(SIM1):c.2297G>T (p.Ser766Ile)
|
rs1185696205
|
|
NM_005097.4(LGI1):c.470A>T (p.Asp157Val)
|
rs1554906737
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln)
|
rs2092312145
|
|
NM_005120.3(MED12):c.4342G>A (p.Gly1448Arg)
|
rs1057518921
|
|
NM_005121.3(MED13):c.1825G>T (p.Asp609Tyr)
|
rs2080498838
|
|
NM_005157.6(ABL1):c.2534del (p.Pro845fs)
|
rs1831540679
|
|
NM_005172.2(ATOH1):c.481C>G (p.Arg161Gly)
|
rs1735397735
|
|
NM_005180.9(BMI1):c.112T>G (p.Phe38Val)
|
rs1836156437
|
|
NM_005188.4(CBL):c.1365TGA[5] (p.Asp460del)
|
rs397507494
|
|
NM_005188.4(CBL):c.2444A>C (p.Glu815Ala)
|
rs1950085293
|
|
NM_005188.4(CBL):c.461T>C (p.Leu154Pro)
|
rs1949850753
|
|
NM_005188.4(CBL):c.508C>T (p.Pro170Ser)
|
rs1949851157
|
|
NM_005188.4(CBL):c.680C>G (p.Thr227Ser)
|
rs1949868148
|
|
NM_005198.5(CHKB):c.305T>C (p.Leu102Pro)
|
rs2070709347
|
|
NM_005198.5(CHKB):c.349G>C (p.Val117Leu)
|
rs769546336
|
|
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter)
|
rs1055176338
|
|
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter)
|
rs1574643342
|
|
NM_005215.4(DCC):c.769G>A (p.Ala257Thr)
|
rs2040159710
|
|
NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn)
|
rs767712795
|
|
NM_005219.5(DIAPH1):c.3162C>A (p.Asn1054Lys)
|
rs1409823509
|
|
NM_005220.3(DLX3):c.574dup (p.Glu192fs)
|
rs1057518764
|
|
NM_005249.5(FOXG1):c.1067del (p.Phe356fs)
|
rs1555321402
|
|
NM_005249.5(FOXG1):c.254C>G (p.Pro85Arg)
|
rs1822450268
|
|
NM_005249.5(FOXG1):c.998C>T (p.Ala333Val)
|
rs1322496307
|
|
NM_005262.3(GFER):c.280G>A (p.Asp94Asn)
|
rs1490540568
|
|
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys)
|
rs1841666156
|
|
NM_005321.3(H1-4):c.415A>G (p.Lys139Glu)
|
rs1764193211
|
|
NM_005359.6(SMAD4):c.530A>C (p.His177Pro)
|
rs1568205026
|
|
NM_005360.5(MAF):c.188C>G (p.Pro63Arg)
|
rs1057518878
|
|
NM_005360.5(MAF):c.941A>C (p.His314Pro)
|
rs1913779276
|
|
NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu)
|
rs1553371013
|
|
NM_005391.5(PDK3):c.106+14_106+15dup
|
rs1940055207
|
|
NM_005422.4(TECTA):c.4214G>A (p.Gly1405Asp)
|
rs1216336175
|
|
NM_005422.4(TECTA):c.4932C>A (p.Ser1644Arg)
|
rs201375747
|
|
NM_005445.4(SMC3):c.7A>G (p.Ile3Val)
|
rs1860796091
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
NM_005476.7(GNE):c.1730C>T (p.Pro577Leu)
|
rs1828512489
|
|
NM_005529.7(HSPG2):c.3656+4C>T
|
rs1177290016
|
|
NM_005529.7(HSPG2):c.6437del (p.Pro2146fs)
|
rs1419062047
|
|
NM_005554.4(KRT6A):c.1078-10T>C
|
rs1938231658
|
|
NM_005559.4(LAMA1):c.5467C>T (p.Gln1823Ter)
|
rs2057730983
|
|
NM_005559.4(LAMA1):c.876_882delinsCATTTA (p.Glu293fs)
|
rs2058035458
|
|
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser)
|
rs1057518966
|
|
NM_005629.4(SLC6A8):c.1208C>T (p.Ala403Val)
|
rs1557045296
|
|
NM_005629.4(SLC6A8):c.1767+9C>G
|
rs782076464
|
|
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu)
|
rs730881040
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)
|
rs397517154
|
|
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile)
|
rs1553356023
|
|
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)
|
rs727505093
|
|
NM_005633.4(SOS1):c.511-6_511-5del
|
rs1671149258
|
|
NM_005634.3(SOX3):c.186TCC[1] (p.Pro64del)
|
rs1927349741
|
|
NM_005654.6(NR2F1):c.1065C>G (p.Tyr355Ter)
|
rs763566932
|
|
NM_005654.6(NR2F1):c.120del (p.Gln40fs)
|
rs1753206907
|
|
NM_005654.6(NR2F1):c.169C>T (p.Gln57Ter)
|
rs1753208096
|
|
NM_005654.6(NR2F1):c.463+1G>A
|
rs1753213365
|
|
NM_005670.4(EPM2A):c.499G>C (p.Gly167Arg)
|
rs1776588836
|
|
NM_005751.5(AKAP9):c.5621C>T (p.Thr1874Ile)
|
rs1809737574
|
|
NM_005787.6(ALG3):c.444+2T>G
|
rs1719083745
|
|
NM_005802.5(TOPORS):c.1379G>C (p.Gly460Ala)
|
rs146483990
|
|
NM_005802.5(TOPORS):c.223T>C (p.Phe75Leu)
|
rs1821114318
|
|
NM_005802.5(TOPORS):c.2666A>G (p.His889Arg)
|
rs762457246
|
|
NM_005850.5(SF3B4):c.827del (p.Pro276fs)
|
rs797045128
|
|
NM_005859.5(PURA):c.116_148del (p.Gly39_Gly49del)
|
rs1763037560
|
|
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu)
|
rs1555405092
|
|
NM_005902.4(SMAD3):c.281G>T (p.Trp94Leu)
|
rs1057518977
|
|
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)
|
rs730880214
|
|
NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter)
|
rs1554055106
|
|
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)
|
rs483352911
|
|
NM_005996.4(TBX3):c.1477T>G (p.Phe493Val)
|
rs1868598987
|
|
NM_005998.5(CCT3):c.1552C>T (p.Arg518Ter)
|
rs1663968731
|
|
NM_006005.3(WFS1):c.2480C>T (p.Thr827Ile)
|
rs1730968164
|
|
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro)
|
rs56393026
|
|
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)
|
rs1057517843
|
|
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)
|
rs375761808
|
|
NM_006015.6(ARID1A):c.6099GGA[2] (p.Glu2036del)
|
rs2081176133
|
|
NM_006017.3(PROM1):c.11T>C (p.Val4Ala)
|
rs1743863519
|
|
NM_006017.3(PROM1):c.2540A>G (p.His847Arg)
|
rs1717178592
|
|
NM_006031.6(PCNT):c.3423del (p.Ser1142fs)
|
rs2085816295
|
|
NM_006044.4(HDAC6):c.2090C>T (p.Thr697Ile)
|
rs1557028459
|
|
NM_006059.4(LAMC3):c.1018C>T (p.Arg340Trp)
|
rs146887458
|
|
NM_006078.5(CACNG2):c.298G>T (p.Ala100Ser)
|
rs1935129350
|
|
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)
|
rs267607165
|
|
NM_006086.4(TUBB3):c.863A>C (p.Glu288Ala)
|
rs2030417656
|
|
NM_006087.4(TUBB4A):c.1021T>C (p.Phe341Leu)
|
rs1914104455
|
|
NM_006087.4(TUBB4A):c.1155C>A (p.Phe385Leu)
|
rs1914088089
|
|
NM_006087.4(TUBB4A):c.557C>T (p.Thr186Met)
|
rs1914148166
|
|
NM_006088.6(TUBB4B):c.587_588del (p.Thr196fs)
|
rs1836785797
|
|
NM_006121.4(KRT1):c.744T>A (p.Asp248Glu)
|
rs1555171425
|
|
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys)
|
rs28942094
|
|
NM_006158.5(NEFL):c.1027_1029del (p.Asp343del)
|
rs1803033172
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910
|
|
NM_006158.5(NEFL):c.73C>A (p.His25Asn)
|
rs924170559
|
|
NM_006186.4(NR4A2):c.881dup (p.Asn294fs)
|
rs1686760554
|
|
NM_006206.6(PDGFRA):c.2221C>T (p.Gln741Ter)
|
rs1724006429
|
|
NM_006218.4(PIK3CA):c.1A>G (p.Met1Val)
|
rs1724332515
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser)
|
rs1553820694
|
|
NM_006267.5(RANBP2):c.1756G>T (p.Gly586Cys)
|
rs367759539
|
|
NM_006268.5(DPF2):c.364C>G (p.Leu122Val)
|
rs1854369385
|
|
NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter)
|
rs200942439
|
|
NM_006306.4(SMC1A):c.1150A>G (p.Lys384Glu)
|
rs2075714342
|
|
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His)
|
rs122454123
|
|
NM_006306.4(SMC1A):c.1996T>C (p.Trp666Arg)
|
rs1057518859
|
|
NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg)
|
rs781817923
|
|
NM_006306.4(SMC1A):c.3187AAG[1] (p.Lys1064del)
|
rs2075588362
|
|
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)
|
rs727503773
|
|
NM_006315.7(PCGF3):c.640C>T (p.His214Tyr)
|
rs1745284197
|
|
NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val)
|
rs1889226797
|
|
NM_006363.6(SEC23B):c.436G>A (p.Ala146Thr)
|
rs2060116077
|
|
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)
|
rs761034212
|
|
NM_006371.5(CRTAP):c.988G>A (p.Val330Ile)
|
rs2030300085
|
|
NM_006420.3(ARFGEF2):c.4269del (p.Leu1424fs)
|
rs2091529784
|
|
NM_006439.5(MAB21L2):c.343G>T (p.Glu115Ter)
|
rs1328813338
|
|
NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu)
|
rs774010147
|
|
NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val)
|
rs1912802818
|
|
NM_006445.4(PRPF8):c.239del (p.Lys80fs)
|
rs1913055670
|
|
NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser)
|
rs756656471
|
|
NM_006445.4(PRPF8):c.926G>A (p.Arg309His)
|
rs775023296
|
|
NM_006506.5(RASA2):c.586A>G (p.Thr196Ala)
|
rs2082610179
|
|
NM_006514.4(SCN10A):c.1461+5G>C
|
rs2063796662
|
|
NM_006514.4(SCN10A):c.3353-6C>T
|
rs2063400844
|
|
NM_006514.4(SCN10A):c.824A>C (p.Lys275Thr)
|
rs2063866964
|
|
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)
|
rs1057518953
|
|
NM_006516.4(SLC2A1):c.470dup (p.Thr158fs)
|
rs1057518821
|
|
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)
|
rs587784383
|
|
NM_006545.5(NPRL2):c.491dup (p.Asp165fs)
|
rs1703652698
|
|
NM_006567.5(FARS2):c.559C>G (p.His187Asp)
|
rs1758874173
|
|
NM_006593.4(TBR1):c.1816C>A (p.Pro606Thr)
|
rs1684280120
|
|
NM_006623.4(PHGDH):c.290+2T>C
|
rs886041874
|
|
NM_006662.3(SRCAP):c.5704G>A (p.Glu1902Lys)
|
rs1019525148
|
|
NM_006734.4(HIVEP2):c.1505C>G (p.Ser502Cys)
|
rs1775601679
|
|
NM_006734.4(HIVEP2):c.4781T>A (p.Leu1594Gln)
|
rs1775480757
|
|
NM_006734.4(HIVEP2):c.601C>A (p.Pro201Thr)
|
rs1775628563
|
|
NM_006734.4(HIVEP2):c.7310A>C (p.Asp2437Ala)
|
rs1774961744
|
|
NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly)
|
rs766745943
|
|
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter)
|
rs1554688879
|
|
NM_006767.4(LZTR1):c.1556_1560dup (p.Phe521fs)
|
rs1924721014
|
|
NM_006767.4(LZTR1):c.578A>G (p.Tyr193Cys)
|
rs1870169267
|
|
NM_006772.3(SYNGAP1):c.1253_1254del (p.Lys418fs)
|
rs1760905282
|
|
NM_006772.3(SYNGAP1):c.1697_1700dup (p.Val568fs)
|
rs1554121671
|
|
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)
|
rs1060503383
|
|
NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=)
|
rs1057518786
|
|
NM_006772.3(SYNGAP1):c.2337-7C>G
|
rs1761085805
|
|
NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs)
|
rs1057518796
|
|
NM_006772.3(SYNGAP1):c.3731G>A (p.Ser1244Asn)
|
rs1761212138
|
|
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)
|
rs121908457
|
|
NM_006828.4(ASCC3):c.801+1G>T
|
rs1432792609
|
|
NM_006846.4(SPINK5):c.1431-12G>A
|
rs368134354
|
|
NM_006859.4(LIAS):c.393+7C>G
|
rs372423537
|
|
NM_006859.4(LIAS):c.643del (p.Asp215fs)
|
rs1744806313
|
|
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)
|
rs869312687
|
|
NM_006915.3(RP2):c.409_411del (p.Ile137del)
|
rs1924904597
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
|
|
|
NM_006940.6(SOX5):c.482-2A>C
|
rs1057518845
|
|
NM_006940.6(SOX5):c.904C>T (p.Pro302Ser)
|
rs1057518928
|
|
NM_006941.4(SOX10):c.718A>C (p.Thr240Pro)
|
rs1332625359
|
|
NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val)
|
rs763021473
|
|
NM_006946.4(SPTBN2):c.5504C>T (p.Ala1835Val)
|
rs1940531426
|
|
NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln)
|
rs1940196069
|
|
NM_006946.4(SPTBN2):c.7096C>T (p.Pro2366Ser)
|
rs1940076802
|
|
NM_006946.4(SPTBN2):c.901A>G (p.Met301Val)
|
rs897181468
|
|
NM_006950.3(SYN1):c.1982+10C>A
|
rs752321936
|
|
NM_007055.4(POLR3A):c.2988+18C>T
|
rs369684554
|
|
NM_007078.3(LDB3):c.1678G>A (p.Gly560Ser)
|
rs1846936455
|
|
NM_007126.5(VCP):c.30T>A (p.Asp10Glu)
|
rs1828874096
|
|
NM_007129.5(ZIC2):c.716A>C (p.His239Pro)
|
rs2053242975
|
|
NM_007194.4(CHEK2):c.1115C>T (p.Ser372Phe)
|
rs147877722
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.683+2T>C
|
rs781021132
|
|
NM_007214.5(SEC63):c.286dup (p.Thr96fs)
|
rs1787640678
|
|
NM_007217.4(PDCD10):c.418G>T (p.Glu140Ter)
|
rs1719762092
|
|
NM_007272.3(CTRC):c.699_703del (p.Ile234fs)
|
rs1553134935
|
|
NM_007289.4(MME):c.1946T>G (p.Ile649Ser)
|
rs184666602
|
|
NM_007289.4(MME):c.467del (p.Pro156fs)
|
rs749320057
|
|
NM_007289.4(MME):c.594dup (p.Val199fs)
|
rs1254522989
|
|
NM_007294.4(BRCA1):c.2269del (p.Val757fs)
|
rs80357583
|
|
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)
|
rs80357749
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs)
|
rs80357989
|
|
NM_007315.4(STAT1):c.1280C>A (p.Thr427Asn)
|
rs1692621311
|
|
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)
|
rs193922921
|
|
NM_007327.4(GRIN1):c.1198-19G>C
|
rs757759855
|
|
NM_007327.4(GRIN1):c.1851C>A (p.Ser617=)
|
rs555866770
|
|
NM_007327.4(GRIN1):c.1864+20G>C
|
rs1833616244
|
|
NM_007327.4(GRIN1):c.1910C>T (p.Ala637Val)
|
rs1554770221
|
|
NM_007347.5(AP4E1):c.617T>C (p.Ile206Thr)
|
rs1264635526
|
|
NM_007363.5(NONO):c.348+2_348+15del
|
|
|
NM_012062.5(DNM1L):c.344C>G (p.Thr115Arg)
|
rs1952997134
|
|
NM_012082.4(ZFPM2):c.2238A>G (p.Leu746=)
|
rs1814052830
|
|
NM_012082.4(ZFPM2):c.3269dup (p.Ser1091fs)
|
rs1814103683
|
|
NM_012123.4(MTO1):c.153_174del (p.Thr53fs)
|
rs1770832882
|
|
NM_012186.3(FOXE3):c.358C>T (p.Arg120Cys)
|
rs1646884682
|
|
NM_012193.4(FZD4):c.1477A>G (p.Met493Val)
|
rs1050752347
|
|
NM_012193.4(FZD4):c.718A>G (p.Thr240Ala)
|
rs1949297471
|
|
NM_012199.5(AGO1):c.784+1G>A
|
rs1645274452
|
|
NM_012210.4(TRIM32):c.1560del (p.Cys521fs)
|
rs1588218453
|
|
NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro)
|
rs766819113
|
|
NM_012318.3(LETM1):c.1261A>T (p.Met421Leu)
|
rs1711880083
|
|
NM_012330.4(KAT6B):c.2839A>G (p.Met947Val)
|
rs1845340492
|
|
NM_012330.4(KAT6B):c.3022-1G>A
|
rs1845433207
|
|
NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)
|
rs1554844486
|
|
NM_012330.4(KAT6B):c.390G>T (p.Glu130Asp)
|
rs771449717
|
|
NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)
|
rs1554846212
|
|
NM_012338.4(TSPAN12):c.100del (p.Trp34fs)
|
rs1554403767
|
|
NM_012338.4(TSPAN12):c.459dup (p.Gln154fs)
|
rs1793956510
|
|
NM_012431.3(SEMA3E):c.944T>G (p.Leu315Arg)
|
rs1788311962
|
|
NM_012469.4(PRPF6):c.1186+13C>G
|
rs376567998
|
|
NM_012469.4(PRPF6):c.1451A>C (p.Glu484Ala)
|
rs2059216772
|
|
NM_013236.4(ATXN10):c.116+4A>T
|
rs1160067775
|
|
NM_013254.4(TBK1):c.965A>T (p.His322Leu)
|
rs751180634
|
|
NM_013261.5(PPARGC1A):c.2375C>A (p.Ala792Asp)
|
rs1717494322
|
|
NM_013275.6(ANKRD11):c.1800dup (p.Arg601fs)
|
rs2034524807
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter)
|
rs752918694
|
|
NM_013275.6(ANKRD11):c.324C>G (p.Gly108=)
|
rs2035032280
|
|
NM_013275.6(ANKRD11):c.4475_4498dup (p.1484_1491LLRHHRDE[3])
|
rs534329317
|
|
NM_013275.6(ANKRD11):c.4880C>T (p.Ala1627Val)
|
rs2034262314
|
|
NM_013275.6(ANKRD11):c.5865del (p.Glu1955fs)
|
rs2034142706
|
|
NM_013275.6(ANKRD11):c.6560C>G (p.Pro2187Arg)
|
rs202216051
|
|
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)
|
rs2033535934
|
|
NM_013355.5(PKN3):c.1363G>T (p.Gly455Trp)
|
rs766188402
|
|
NM_013355.5(PKN3):c.25-1G>T
|
rs746414129
|
|
NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys)
|
rs1553253990
|
|
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His)
|
rs1553253989
|
|
NM_014014.5(SNRNP200):c.1786A>G (p.Ile596Val)
|
rs1471564053
|
|
NM_014014.5(SNRNP200):c.5489-2A>G
|
rs1553439227
|
|
NM_014014.5(SNRNP200):c.629A>G (p.Glu210Gly)
|
rs995570532
|
|
NM_014112.5(TRPS1):c.1230G>A (p.Trp410Ter)
|
rs1057518791
|
|
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)
|
rs1057518972
|
|
NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly)
|
rs986339998
|
|
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter)
|
rs1694125419
|
|
NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter)
|
rs748106387
|
|
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs)
|
rs1794916576
|
|
NM_014208.3(DSPP):c.-21T>C
|
rs1553903873
|
|
NM_014208.3(DSPP):c.3003C>G (p.Ser1001Arg)
|
rs535605955
|
|
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro)
|
rs2089686081
|
|
NM_014233.4(UBTF):c.2213A>G (p.Asp738Gly)
|
rs2056307553
|
|
NM_014270.5(SLC7A9):c.450_452del (p.Val151del)
|
rs1294838201
|
|
NM_014314.4(RIGI):c.1863G>T (p.Glu621Asp)
|
rs145874548
|
|
NM_014314.4(RIGI):c.2368A>C (p.Ile790Leu)
|
rs771103623
|
|
NM_014314.4(RIGI):c.396_399del (p.Asn133fs)
|
rs760088776
|
|
NM_014319.5(LEMD3):c.1700del (p.Asp566_Leu567insTer)
|
rs1870837900
|
|
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly)
|
rs1868466055
|
|
NM_014365.3(HSPB8):c.367+57del
|
rs1181413905
|
|
NM_014521.3(SH3BP4):c.1403A>G (p.Asp468Gly)
|
rs1695679016
|
|
NM_014629.4(ARHGEF10):c.541A>G (p.Thr181Ala)
|
rs746857277
|
|
NM_014639.4(SKIC3):c.1221+1G>C
|
rs200085753
|
|
NM_014694.4(ADAMTSL2):c.2839A>G (p.Arg947Gly)
|
rs1389223791
|
|
NM_014694.4(ADAMTSL2):c.845C>T (p.Thr282Met)
|
rs1830368432
|
|
NM_014712.3(SETD1A):c.2230T>G (p.Ser744Ala)
|
rs2056141842
|
|
NM_014714.4(IFT140):c.558G>A (p.Trp186Ter)
|
rs2035218747
|
|
NM_014717.3(ZNF536):c.1617_1627del (p.Lys540fs)
|
rs2052261688
|
|
NM_014727.3(KMT2B):c.3429+9G>A
|
rs868331986
|
|
NM_014727.3(KMT2B):c.3953G>T (p.Trp1318Leu)
|
rs1969439027
|
|
NM_014754.3(PTDSS1):c.247A>C (p.Ile83Leu)
|
rs1810593860
|
|
NM_014795.4(ZEB2):c.593-18_593-17insTG
|
rs776927209
|
|
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter)
|
rs765514069
|
|
NM_014814.3(PSMD6):c.146-278_146-277insAAGA
|
rs781156646
|
|
NM_014845.6(FIG4):c.294del (p.Phe98fs)
|
rs1562648373
|
|
NM_014846.4(WASHC5):c.1345C>A (p.Arg449=)
|
rs886062653
|
|
NM_014846.4(WASHC5):c.3122T>C (p.Ile1041Thr)
|
rs1815741317
|
|
NM_014846.4(WASHC5):c.712-9A>T
|
rs1817065747
|
|
NM_014850.4(SRGAP3):c.3077G>A (p.Arg1026His)
|
rs1488419249
|
|
NM_014874.4(MFN2):c.1777T>A (p.Ser593Thr)
|
rs1639429397
|
|
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)
|
rs119103263
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_014915.3(ANKRD26):c.3686C>T (p.Ala1229Val)
|
rs1386447841
|
|
NM_014920.5(CILK1):c.917G>C (p.Gly306Ala)
|
rs375312902
|
|
NM_014927.5(CNKSR2):c.1333G>C (p.Glu445Gln)
|
rs2092188951
|
|
NM_014927.5(CNKSR2):c.73G>A (p.Asp25Asn)
|
rs2090566346
|
|
NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter)
|
rs1553315329
|
|
NM_014946.4(SPAST):c.1117del (p.Ala373fs)
|
rs1057518880
|
|
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)
|
rs1060502227
|
|
NM_014946.4(SPAST):c.1413+3_1413+6del
|
rs570685843
|
|
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)
|
rs121908511
|
|
NM_014946.4(SPAST):c.1670C>G (p.Ala557Gly)
|
rs1057518873
|
|
NM_014946.4(SPAST):c.519A>G (p.Arg173=)
|
rs1677627735
|
|
NM_014946.4(SPAST):c.644G>A (p.Ser215Asn)
|
rs774722817
|
|
NM_014946.4(SPAST):c.683-15C>G
|
rs1678752312
|
|
NM_014946.4(SPAST):c.870+1G>A
|
rs1553314978
|
|
NM_014946.4(SPAST):c.870+1G>T
|
rs1553314978
|
|
NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter)
|
rs373403222
|
|
NM_014975.3(MAST1):c.1177C>T (p.His393Tyr)
|
rs1970044016
|
|
NM_014975.3(MAST1):c.2294C>T (p.Thr765Ile)
|
rs779160316
|
|
NM_014989.7(RIMS1):c.1679-16551C>T
|
rs1012788466
|
|
NM_014989.7(RIMS1):c.3919G>A (p.Gly1307Arg)
|
rs2095260209
|
|
NM_014989.7(RIMS1):c.4067C>T (p.Ala1356Val)
|
rs2095619223
|
|
NM_015046.7(SETX):c.1285A>G (p.Ile429Val)
|
rs747053403
|
|
NM_015046.7(SETX):c.6637C>G (p.Pro2213Ala)
|
rs1843502057
|
|
NM_015057.5(MYCBP2):c.5895+2T>G
|
rs2058939463
|
|
NM_015073.3(SIPA1L3):c.3535T>G (p.Tyr1179Asp)
|
rs1971857507
|
|
NM_015073.3(SIPA1L3):c.5248C>T (p.Arg1750Trp)
|
rs1261792226
|
|
NM_015100.4(POGZ):c.1252C>A (p.Pro418Thr)
|
rs1277299979
|
|
NM_015100.4(POGZ):c.1685G>A (p.Cys562Tyr)
|
rs1654829470
|
|
NM_015100.4(POGZ):c.2771del (p.Pro924fs)
|
rs1553212868
|
|
NM_015100.4(POGZ):c.402_409dup (p.His137fs)
|
rs1057518799
|
|
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)
|
rs780905861
|
|
NM_015107.3(PHF8):c.-63C>A
|
rs781976643
|
|
NM_015107.3(PHF8):c.2455del (p.Leu819fs)
|
rs2065126287
|
|
NM_015141.4(GPD1L):c.560A>G (p.Asn187Ser)
|
rs951273802
|
|
NM_015158.5(KANK1):c.3554-9_3554-5del
|
rs58169581
|
|
NM_015208.5(ANKRD12):c.2600_2604del (p.Ile867fs)
|
rs775076664
|
|
NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly)
|
rs765488241
|
|
NM_015215.4(CAMTA1):c.4453G>A (p.Glu1485Lys)
|
rs2096854165
|
|
NM_015215.4(CAMTA1):c.511-22_511-19del
|
rs2095751767
|
|
NM_015215.4(CAMTA1):c.851G>A (p.Arg284His)
|
rs767725186
|
|
NM_015270.5(ADCY6):c.1027C>G (p.Leu343Val)
|
rs1941741272
|
|
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)
|
rs770291169
|
|
NM_015295.3(SMCHD1):c.2972G>A (p.Ser991Asn)
|
rs2075090484
|
|
NM_015311.3(OBSL1):c.2635del (p.Cys879fs)
|
rs1696644780
|
|
NM_015311.3(OBSL1):c.690dup (p.Glu231fs)
|
rs1553538488
|
|
NM_015330.6(SPECC1L):c.836A>G (p.Glu279Gly)
|
rs2040728349
|
|
NM_015335.5(MED13L):c.1175+20T>C
|
rs1879642923
|
|
NM_015335.5(MED13L):c.1971del (p.Asp657fs)
|
rs1555247805
|
|
NM_015335.5(MED13L):c.2061G>T (p.Gln687His)
|
rs770538291
|
|
NM_015335.5(MED13L):c.4622del (p.Thr1541fs)
|
rs1877476585
|
|
NM_015335.5(MED13L):c.5383C>G (p.Leu1795Val)
|
rs750257495
|
|
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter)
|
rs1879951118
|
|
NM_015340.4(LARS2):c.1077del (p.Ile360fs)
|
rs398123037
|
|
NM_015346.4(ZFYVE26):c.4153C>T (p.Gln1385Ter)
|
rs2039544464
|
|
NM_015386.3(COG4):c.1542G>T (p.Gln514His)
|
rs2049339762
|
|
NM_015466.4(PTPN23):c.2866CAGCCCCATCCT[1] (p.956QPHP[1])
|
rs760022693
|
|
NM_015488.5(PNKD):c.1115T>C (p.Leu372Pro)
|
rs1694789383
|
|
NM_015488.5(PNKD):c.26C>T (p.Ala9Val)
|
rs121434511
|
|
NM_015488.5(PNKD):c.733G>T (p.Gly245Cys)
|
rs769143232
|
|
NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg)
|
rs1555706928
|
|
NM_015559.3(SETBP1):c.3198C>A (p.Tyr1066Ter)
|
rs373264085
|
|
NM_015559.3(SETBP1):c.3341G>C (p.Gly1114Ala)
|
rs2071387812
|
|
NM_015559.3(SETBP1):c.478A>G (p.Lys160Glu)
|
rs2069121126
|
|
NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup)
|
rs538005366
|
|
NM_015570.4(AUTS2):c.3632C>A (p.Thr1211Asn)
|
rs1416757959
|
|
NM_015570.4(AUTS2):c.3707G>A (p.Arg1236Lys)
|
rs201704456
|
|
NM_015570.4(AUTS2):c.742+1G>A
|
rs1554464807
|
|
NM_015570.4(AUTS2):c.932C>G (p.Thr311Arg)
|
rs1454617445
|
|
NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg)
|
rs2073873973
|
|
NM_015631.6(TCTN3):c.1760C>A (p.Ser587Ter)
|
rs2097923913
|
|
NM_015726.4(DCAF8):c.451C>T (p.Arg151Cys)
|
rs1228444617
|
|
NM_015884.4(MBTPS2):c.119A>C (p.Asn40Thr)
|
rs777980245
|
|
NM_015915.5(ATL1):c.1065C>A (p.Asn355Lys)
|
rs1555365597
|
|
NM_015915.5(ATL1):c.169C>T (p.Leu57Phe)
|
rs2039118655
|
|
NM_015915.5(ATL1):c.833C>T (p.Thr278Ile)
|
rs2039395853
|
|
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)
|
rs142351862
|
|
NM_015922.3(NSDHL):c.790-5G>T
|
rs377291339
|
|
NM_015978.3(TNNI3K):c.2205C>A (p.Asn735Lys)
|
rs199608014
|
|
NM_016032.4(ZDHHC9):c.354G>C (p.Gln118His)
|
rs1927947896
|
|
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)
|
rs137852214
|
|
NM_016032.4(ZDHHC9):c.852dup (p.Glu285Ter)
|
rs1927638009
|
|
NM_016169.4(SUFU):c.331G>C (p.Asp111His)
|
rs1590018865
|
|
NM_016175.4(MRNIP):c.937G>T (p.Glu313Ter)
|
rs753168881
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_016203.4(PRKAG2):c.413C>G (p.Ser138Cys)
|
rs2076650862
|
|
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg)
|
rs368637364
|
|
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)
|
rs780170125
|
|
NM_016239.4(MYO15A):c.9303+5G>A
|
rs1555547215
|
|
NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter)
|
rs753747821
|
|
NM_016247.4(IMPG2):c.1240-2A>G
|
rs1706475153
|
|
NM_016247.4(IMPG2):c.586A>G (p.Thr196Ala)
|
rs1463411745
|
|
NM_016360.4(TACO1):c.583del (p.Asp195fs)
|
rs2033870567
|
|
NM_016373.4(WWOX):c.16T>C (p.Tyr6His)
|
rs1239497096
|
|
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter)
|
rs759766243
|
|
NM_016373.4(WWOX):c.517C>T (p.His173Tyr)
|
rs777272586
|
|
NM_016373.4(WWOX):c.791+18A>T
|
rs1023123497
|
|
NM_016373.4(WWOX):c.918del (p.Glu306fs)
|
rs1057518795
|
|
NM_016529.6(ATP8A2):c.210del (p.Asp70fs)
|
rs2035763126
|
|
NM_016648.4(LARP7):c.834dup (p.Arg279fs)
|
rs763929099
|
|
NM_016729.3(FOLR1):c.287G>A (p.Cys96Tyr)
|
rs1057518816
|
|
NM_016953.4(PDE11A):c.1660del (p.Cys554fs)
|
rs573163079
|
|
NM_016955.4(SEPSECS):c.388+5G>A
|
rs1057518887
|
|
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)
|
rs398124308
|
|
NM_017547.4(FOXRED1):c.972-3C>A
|
rs781102596
|
|
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His)
|
rs768625801
|
|
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met)
|
rs377294245
|
|
NM_017617.5(NOTCH1):c.5430G>C (p.Gln1810His)
|
rs1843005523
|
|
NM_017636.4(TRPM4):c.1870G>T (p.Val624Phe)
|
rs1426647583
|
|
NM_017636.4(TRPM4):c.1894C>G (p.Arg632Gly)
|
rs1287233315
|
|
NM_017636.4(TRPM4):c.588T>A (p.Asn196Lys)
|
rs1967315779
|
|
NM_017644.3(KLHL24):c.3G>C (p.Met1Ile)
|
rs886037957
|
|
NM_017649.5(CNNM2):c.1621+21dup
|
rs1845563839
|
|
NM_017649.5(CNNM2):c.2125G>T (p.Ala709Ser)
|
rs748696153
|
|
NM_017649.5(CNNM2):c.296C>G (p.Thr99Ser)
|
rs1845519788
|
|
NM_017668.3(NDE1):c.*388del
|
rs543763112
|
|
NM_017668.3(NDE1):c.684_685del (p.Pro229fs)
|
rs756206942
|
|
NM_017721.5(CC2D1A):c.1072C>T (p.Arg358Trp)
|
rs774357851
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1274-3C>T
|
rs1555597344
|
|
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
|
rs868107005
|
|
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)
|
rs587783429
|
|
NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter)
|
rs1554581757
|
|
NM_017780.4(CHD7):c.1676C>T (p.Ser559Leu)
|
rs1402410171
|
|
NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter)
|
rs367557471
|
|
NM_017780.4(CHD7):c.299C>A (p.Ser100Tyr)
|
rs1809030198
|
|
NM_017780.4(CHD7):c.3659C>A (p.Ala1220Asp)
|
rs1181372363
|
|
NM_017780.4(CHD7):c.4203_4204del (p.His1401fs)
|
rs1804800490
|
|
NM_017780.4(CHD7):c.6103+9A>G
|
rs1805508072
|
|
NM_017780.4(CHD7):c.6551A>T (p.Lys2184Met)
|
rs749435288
|
|
NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)
|
rs1057518891
|
|
NM_017780.4(CHD7):c.8182G>T (p.Ala2728Ser)
|
rs757725468
|
|
NM_017918.5(MCUB):c.114G>C (p.Lys38Asn)
|
rs1729166878
|
|
NM_017934.7(PHIP):c.631G>A (p.Ala211Thr)
|
rs1371788682
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_017950.4(CCDC40):c.2832+297G>T
|
rs1187849857
|
|
NM_017950.4(CCDC40):c.2832+306G>T
|
rs1435853783
|
|
NM_017950.4(CCDC40):c.2832+395dup
|
rs1216169899
|
|
NM_017950.4(CCDC40):c.298del (p.Thr100fs)
|
rs2037232562
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018027.5(FRMD4A):c.2837C>T (p.Ser946Leu)
|
rs983630296
|
|
NM_018105.3(THAP1):c.387_399del (p.Ser130fs)
|
rs1802650847
|
|
NM_018112.3(TMEM38B):c.661-8del
|
rs751973432
|
|
NM_018117.12(WDR11):c.373C>T (p.Gln125Ter)
|
rs1846091309
|
|
NM_018122.5(DARS2):c.228-21_228-20delinsC
|
rs1553201258
|
|
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
|
|
|
NM_018249.6(CDK5RAP2):c.881C>T (p.Ala294Val)
|
rs757203397
|
|
NM_018263.6(ASXL2):c.2847T>G (p.Asn949Lys)
|
rs1428706577
|
|
NM_018263.6(ASXL2):c.620C>T (p.Pro207Leu)
|
rs2088396238
|
|
NM_018392.5(ZGRF1):c.3596_3597del (p.Ser1199fs)
|
rs1057518892
|
|
NM_018486.3(HDAC8):c.182T>G (p.Val61Gly)
|
rs2051901690
|
|
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)
|
rs886041936
|
|
NM_018486.3(HDAC8):c.522C>A (p.Tyr174Ter)
|
rs146015223
|
|
NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)
|
rs1556009247
|
|
NM_018486.3(HDAC8):c.738-1G>A
|
rs1602975601
|
|
NM_018684.4(ZC4H2):c.170A>C (p.Gln57Pro)
|
rs1929211117
|
|
NM_018684.4(ZC4H2):c.561G>T (p.Lys187Asn)
|
rs1929057155
|
|
NM_018684.4(ZC4H2):c.576del (p.His193fs)
|
rs1929007323
|
|
NM_018684.4(ZC4H2):c.598G>A (p.Ala200Thr)
|
rs1929006117
|
|
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn)
|
rs759022476
|
|
NM_018896.5(CACNA1G):c.2185T>C (p.Trp729Arg)
|
rs2041195702
|
|
NM_018896.5(CACNA1G):c.4675C>T (p.Arg1559Cys)
|
rs756359036
|
|
NM_018896.5(CACNA1G):c.6485C>A (p.Pro2162His)
|
rs2053744294
|
|
NM_018979.4(WNK1):c.5572G>A (p.Gly1858Arg)
|
rs1395162926
|
|
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)
|
rs1014959895
|
|
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer)
|
rs1890356742
|
|
NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu)
|
rs1267004913
|
|
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del)
|
rs779748148
|
|
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
|
rs775796581
|
|
NM_019098.5(CNGB3):c.852+4010_903+1699dup
|
|
|
NM_019112.4(ABCA7):c.4561A>C (p.Lys1521Gln)
|
rs1299826816
|
|
NM_019112.4(ABCA7):c.6253G>A (p.Asp2085Asn)
|
rs2042963216
|
|
NM_019616.4(F7):c.1325del (p.Pro442fs)
|
rs750457207
|
|
NM_019842.4(KCNQ5):c.2478G>C (p.Leu826Phe)
|
rs1765738668
|
|
NM_019842.4(KCNQ5):c.49T>C (p.Trp17Arg)
|
rs971617867
|
|
NM_019842.4(KCNQ5):c.522G>C (p.Glu174Asp)
|
rs1771727703
|
|
NM_019892.6(INPP5E):c.1312G>C (p.Asp438His)
|
rs1835733198
|
|
NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter)
|
rs763184652
|
|
NM_020166.5(MCCC1):c.370-16T>G
|
rs1716772551
|
|
NM_020169.4(LXN):c.570+1G>C
|
rs745485339
|
|
NM_020196.3(XAB2):c.2267-1G>T
|
rs2030995839
|
|
NM_020223.4(FAM20C):c.1375C>T (p.Arg459Cys)
|
rs1232400875
|
|
NM_020247.5(COQ8A):c.1383_1384insTTTGG (p.Glu462fs)
|
rs1659926175
|
|
NM_020320.5(RARS2):c.1305+1G>A
|
rs1408583008
|
|
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter)
|
rs878853392
|
|
NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs)
|
rs1555302200
|
|
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)
|
rs1943353362
|
|
NM_020376.4(PNPLA2):c.731A>G (p.Asp244Gly)
|
rs1845738645
|
|
NM_020435.4(GJC2):c.550_566del (p.Ala184fs)
|
rs758571008
|
|
NM_020436.5(SALL4):c.1424A>G (p.Lys475Arg)
|
rs2078036143
|
|
NM_020451.3(SELENON):c.538-1G>A
|
rs2047928865
|
|
NM_020458.4(TTC7A):c.764+5G>A
|
rs1180479579
|
|
NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter)
|
rs1057518782
|
|
NM_020533.3(MCOLN1):c.777+1G>C
|
rs1057518781
|
|
NM_020549.5(CHAT):c.403C>T (p.Pro135Ser)
|
rs1554802473
|
|
NM_020699.4(GATAD2B):c.1446G>T (p.Gln482His)
|
rs1674312870
|
|
NM_020699.4(GATAD2B):c.597+2_597+3dup
|
rs1674574746
|
|
NM_020699.4(GATAD2B):c.766C>T (p.Leu256Phe)
|
rs906441475
|
|
NM_020708.5(SLC12A5):c.1689-7G>A
|
rs2084595386
|
|
NM_020717.5(SHROOM4):c.2362C>T (p.His788Tyr)
|
rs1931184202
|
|
NM_020738.4(KIDINS220):c.2987T>G (p.Met996Arg)
|
rs1376895839
|
|
NM_020738.4(KIDINS220):c.4053+1G>T
|
rs1664419023
|
|
NM_020738.4(KIDINS220):c.900+5G>A
|
rs772773265
|
|
NM_020745.4(AARS2):c.2884C>T (p.Gln962Ter)
|
rs1785274253
|
|
NM_020745.4(AARS2):c.459G>A (p.Trp153Ter)
|
rs1786349461
|
|
NM_020754.4(ARHGAP31):c.2411C>A (p.Pro804Gln)
|
rs760373610
|
|
NM_020762.4(SRGAP1):c.731_732insAG (p.Leu245fs)
|
rs2035064004
|
|
NM_020822.3(KCNT1):c.2166_2170del (p.Pro724fs)
|
rs1832854272
|
|
NM_020822.3(KCNT1):c.972C>G (p.Ile324Met)
|
rs1831785244
|
|
NM_020921.4(NIN):c.5302G>T (p.Val1768Phe)
|
rs151233126
|
|
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup)
|
rs779283808
|
|
NM_020975.6(RET):c.1162G>T (p.Val388Phe)
|
rs776223166
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
NM_020975.6(RET):c.2313C>G (p.Asp771Glu)
|
rs1838123343
|
|
NM_020975.6(RET):c.2631del (p.Arg878fs)
|
rs1838178970
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020987.5(ANK3):c.6715C>T (p.Arg2239Cys)
|
rs747533848
|
|
NM_020987.5(ANK3):c.8208A>C (p.Glu2736Asp)
|
rs2082962014
|
|
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)
|
rs772718469
|
|
NM_021267.5(CERS1):c.527C>G (p.Ser176Trp)
|
rs555889038
|
|
NM_021625.5(TRPV4):c.-31-3C>T
|
rs1891768935
|
|
NM_021625.5(TRPV4):c.1178A>T (p.Glu393Val)
|
rs1890421296
|
|
NM_021625.5(TRPV4):c.1771T>A (p.Tyr591Asn)
|
rs1890124015
|
|
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)
|
rs121912637
|
|
NM_021625.5(TRPV4):c.386+1G>A
|
rs1207379343
|
|
NM_021625.5(TRPV4):c.617G>A (p.Arg206His)
|
rs373108373
|
|
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)
|
rs387906905
|
|
NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs)
|
rs1555350397
|
|
NM_021830.5(TWNK):c.1000C>T (p.Arg334Ter)
|
rs776533804
|
|
NM_021830.5(TWNK):c.1074del (p.Ala359fs)
|
rs1851695223
|
|
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln)
|
rs1554887097
|
|
NM_021971.4(GMPPB):c.684dup (p.Met229fs)
|
rs2080427976
|
|
NM_022039.4(FBXW4):c.1663_1664del (p.Leu555fs)
|
rs1393527867
|
|
NM_022039.4(FBXW4):c.1673_1679dup (p.His560fs)
|
rs2063780508
|
|
NM_022114.4(PRDM16):c.565A>G (p.Ser189Gly)
|
rs1643176774
|
|
NM_022168.4(IFIH1):c.1357G>A (p.Val453Met)
|
rs367921237
|
|
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)
|
rs587777446
|
|
NM_022168.4(IFIH1):c.770-10T>C
|
rs1683038128
|
|
NM_022369.4(STRA6):c.-15-167G>A
|
rs2074119629
|
|
NM_022369.4(STRA6):c.785G>T (p.Ser262Ile)
|
rs1480965495
|
|
NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu)
|
rs1762710997
|
|
NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr)
|
rs2095343853
|
|
NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter)
|
rs1763344725
|
|
NM_022455.5(NSD1):c.4055dup (p.Leu1352fs)
|
rs1765615038
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter)
|
rs1060501493
|
|
NM_022455.5(NSD1):c.7022C>T (p.Ser2341Phe)
|
rs1319472971
|
|
NM_022455.5(NSD1):c.709A>G (p.Lys237Glu)
|
rs1756273326
|
|
NM_022489.4(INF2):c.3247A>G (p.Ser1083Gly)
|
rs1555375554
|
|
NM_022489.4(INF2):c.3729_3732del (p.Lys1243fs)
|
rs1566787039
|
|
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)
|
rs530391015
|
|
NM_022845.3(CBFB):c.295_296dup (p.Pro100fs)
|
rs1961069899
|
|
NM_023110.3(FGFR1):c.1671del (p.Leu557fs)
|
rs1816433701
|
|
NM_024079.5(ALG8):c.1533T>A (p.Tyr511Ter)
|
rs1859771094
|
|
NM_024301.5(FKRP):c.1366G>A (p.Gly456Ser)
|
rs2054938604
|
|
NM_024312.5(GNPTAB):c.229GTT[1] (p.Val78del)
|
rs281864952
|
|
NM_024408.4(NOTCH2):c.5327T>C (p.Leu1776Ser)
|
rs1649240420
|
|
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp)
|
rs1057518818
|
|
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys)
|
rs142331975
|
|
NM_024514.5(CYP2R1):c.1181T>C (p.Ile394Thr)
|
rs1848277685
|
|
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)
|
rs1558280170
|
|
NM_024537.4(CARS2):c.1360dup (p.Ile454fs)
|
rs1555342802
|
|
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)
|
rs74555752
|
|
NM_024589.3(ROGDI):c.29C>G (p.Ala10Gly)
|
rs1324617654
|
|
NM_024589.3(ROGDI):c.432+1dup
|
rs2082694047
|
|
NM_024589.3(ROGDI):c.727C>G (p.His243Asp)
|
rs2082670659
|
|
NM_024596.5(MCPH1):c.2002del (p.Asp668fs)
|
rs1809112398
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
|
NM_024666.5(AAGAB):c.451+1G>T
|
rs1057518846
|
|
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)
|
rs180177097
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)
|
rs1567217898
|
|
NM_024675.4(PALB2):c.2383C>G (p.Gln795Glu)
|
rs1966856854
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024741.3(ZNF408):c.943C>T (p.Gln315Ter)
|
rs1565695139
|
|
NM_024757.5(EHMT1):c.1311G>A (p.Trp437Ter)
|
rs1949206105
|
|
NM_024757.5(EHMT1):c.1647+2T>C
|
rs1057518913
|
|
NM_024757.5(EHMT1):c.2712+1G>A
|
rs1057518849
|
|
NM_024757.5(EHMT1):c.467C>T (p.Pro156Leu)
|
rs1409055029
|
|
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter)
|
rs1474604202
|
|
NM_024884.3(L2HGDH):c.709C>T (p.Gln237Ter)
|
rs1890096157
|
|
NM_024996.7(GFM1):c.829dup (p.Ser277fs)
|
rs771865940
|
|
NM_024996.7(GFM1):c.881C>T (p.Pro294Leu)
|
rs1722451256
|
|
NM_025074.7(FRAS1):c.6303C>G (p.His2101Gln)
|
rs1718978389
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
NM_025114.4(CEP290):c.3104-2A>G
|
rs773386777
|
|
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln)
|
rs1466311097
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
|
rs761907569
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.5710-3C>G
|
rs1555202126
|
|
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val)
|
rs2033943524
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|
NM_025132.4(WDR19):c.1454G>T (p.Ser485Ile)
|
|
|
NM_025132.4:c.(3183+1_3184-1)_(3261+1_3262-1)del
|
|
|
NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val)
|
rs1057518874
|
|
NM_025137.4(SPG11):c.4877_4878del (p.Phe1626fs)
|
rs2082842632
|
|
NM_025137.4(SPG11):c.668-28G>A
|
rs749231608
|
|
NM_025137.4(SPG11):c.7152-6A>G
|
rs2082233766
|
|
NM_025152.3(NUBPL):c.591_595del (p.Gln197fs)
|
rs1313083001
|
|
NM_025216.3(WNT10A):c.667C>T (p.Arg223Cys)
|
rs149245953
|
|
NM_030632.3(ASXL3):c.3039+2T>G
|
rs1555743005
|
|
NM_030632.3(ASXL3):c.3785_3786del (p.Ser1262fs)
|
rs2067707522
|
|
NM_030665.4(RAI1):c.1888C>G (p.Pro630Ala)
|
rs1184373480
|
|
NM_030665.4(RAI1):c.3760A>G (p.Asn1254Asp)
|
rs2032268470
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
NM_030665.4(RAI1):c.619A>T (p.Thr207Ser)
|
rs1434136369
|
|
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)
|
rs565457964
|
|
NM_030943.4(AMN):c.149T>C (p.Phe50Ser)
|
rs772475317
|
|
NM_030943.4(AMN):c.320_321dup (p.Asp108fs)
|
rs1555381324
|
|
NM_030954.4(RNF170):c.346C>T (p.Arg116Ter)
|
rs756602672
|
|
NM_030962.4(SBF2):c.4331_4332del (p.Lys1444fs)
|
rs1853955279
|
|
NM_031229.4(RBCK1):c.582+1G>A
|
rs1017046170
|
|
NM_031263.4(HNRNPK):c.1192-14_1192-2del
|
rs1956767508
|
|
NM_031307.4(PUS3):c.366_367del (p.Ala123fs)
|
rs1944570170
|
|
NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro)
|
rs1556948950
|
|
NM_031418.4(ANO3):c.1882C>T (p.Arg628Ter)
|
rs1334945680
|
|
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)
|
rs765548101
|
|
NM_031483.7(ITCH):c.1952+3_1952+6del
|
rs1988672290
|
|
NM_031844.3(HNRNPU):c.465G>T (p.Glu155Asp)
|
rs776778115
|
|
NM_031844.3(HNRNPU):c.470G>A (p.Gly157Glu)
|
rs1195258707
|
|
NM_031844.3(HNRNPU):c.521A>G (p.Gln174Arg)
|
rs1553283861
|
|
NM_032040.5(CCDC8):c.203_204del (p.Gln68fs)
|
rs1973248576
|
|
NM_032040.5(CCDC8):c.817_829del (p.Ser273fs)
|
rs774464372
|
|
NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu)
|
rs751841684
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.318del (p.His107fs)
|
|
|
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly)
|
rs1057518847
|
|
NM_032043.3(BRIP1):c.368C>A (p.Ser123Ter)
|
|
|
NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)
|
rs1554079046
|
|
NM_032208.3(ANTXR1):c.80G>T (p.Gly27Val)
|
rs1558726190
|
|
NM_032322.4(RNF135):c.20G>C (p.Gly7Ala)
|
rs1905865031
|
|
NM_032531.4(KIRREL3):c.1696+19G>C
|
rs1555100391
|
|
NM_032531.4(KIRREL3):c.232G>A (p.Val78Ile)
|
rs780770440
|
|
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)
|
rs149887823
|
|
NM_032578.4(MYPN):c.3158+14G>A
|
rs2043590750
|
|
NM_032634.4(PIGO):c.1176_1186del (p.Glu392fs)
|
rs1829490529
|
|
NM_032801.5(JAM3):c.2T>A (p.Met1Lys)
|
rs397514678
|
|
NM_033004.4(NLRP1):c.2170G>A (p.Glu724Lys)
|
rs1347045059
|
|
NM_033004.4(NLRP1):c.790del (p.Cys264fs)
|
rs1597460588
|
|
NM_033028.5(BBS4):c.289_291delinsTG (p.Ser97fs)
|
rs2065449579
|
|
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser)
|
rs1194313858
|
|
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)
|
rs770082088
|
|
NM_033056.4(PCDH15):c.5650A>G (p.Arg1884Gly)
|
rs2076305966
|
|
NM_033088.4(STRIP1):c.650+10G>A
|
rs72687299
|
|
NM_033100.4(CDHR1):c.2051_2056del (p.Arg684_Ser685del)
|
rs760555697
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_033100.4(CDHR1):c.616del (p.His206fs)
|
rs1183979115
|
|
NM_033118.4(MYLK2):c.1402A>G (p.Met468Val)
|
rs2062304337
|
|
NM_033305.3(VPS13A):c.6485A>T (p.Asn2162Ile)
|
rs769503145
|
|
NM_033310.3(KCNK4):c.683C>T (p.Ser228Phe)
|
rs1381890684
|
|
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)
|
rs2034823903
|
|
NM_033343.4(LHX4):c.90C>G (p.Cys30Trp)
|
rs147491286
|
|
NM_033380.2(COL4A5):c.1424-2_1430delAGGTGACAA
|
rs1556411578
|
|
NM_033380.3(COL4A5):c.1033-1G>A
|
rs2066339336
|
|
NM_033380.3(COL4A5):c.1397G>A (p.Gly466Glu)
|
rs104886114
|
|
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp)
|
rs104886153
|
|
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val)
|
rs1369565068
|
|
NM_033380.3(COL4A5):c.2182G>A (p.Gly728Arg)
|
rs1556414460
|
|
NM_033380.3(COL4A5):c.287G>T (p.Gly96Val)
|
rs2066011284
|
|
NM_033380.3(COL4A5):c.3588A>G (p.Gly1196=)
|
rs1556445736
|
|
NM_033380.3(COL4A5):c.3614G>T (p.Gly1205Val)
|
rs1556446493
|
|
NM_033380.3(COL4A5):c.4906dup (p.Ile1636fs)
|
rs1556463583
|
|
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg)
|
rs104886060
|
|
NM_033380.3(COL4A5):c.808G>A (p.Gly270Arg)
|
rs1556406783
|
|
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp)
|
rs104886086
|
|
NM_033486.3(CDK11B):c.119A>G (p.Asp40Gly)
|
rs1553165542
|
|
NM_033629.6(TREX1):c.856_865dup (p.Ala289fs)
|
rs2040385695
|
|
NM_052854.4(CREB3L1):c.774del (p.Pro259fs)
|
rs1939498274
|
|
NM_052859.4(RFT1):c.740dup (p.Lys248fs)
|
rs1701662808
|
|
NM_052867.4(NALCN):c.1100A>T (p.Asn367Ile)
|
rs1258522527
|
|
NM_052867.4(NALCN):c.2551C>G (p.Arg851Gly)
|
rs1464580245
|
|
NM_052876.4(NACC1):c.1038A>C (p.Glu346Asp)
|
rs2019706598
|
|
NM_052876.4(NACC1):c.1325-14A>C
|
rs1600002218
|
|
NM_052876.4(NACC1):c.1325-4A>C
|
rs2019733406
|
|
NM_052903.6(TUBGCP5):c.2180T>G (p.Phe727Cys)
|
rs1555436162
|
|
NM_053025.4(MYLK):c.3874G>C (p.Gly1292Arg)
|
rs2059660021
|
|
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)
|
rs770780171
|
|
NM_053274.3(GLMN):c.844_847del (p.Leu282fs)
|
rs773060450
|
|
NM_054027.6(ANKH):c.1124_1126del (p.Ser375del)
|
rs121908406
|
|
NM_057175.5(NAA15):c.1815A>T (p.Lys605Asn)
|
rs1748399304
|
|
NM_058216.3(RAD51C):c.1028C>G (p.Pro343Arg)
|
rs2049559202
|
|
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.572-1G>C
|
rs1413872299
|
|
NM_058246.4(DNAJB6):c.179A>G (p.Lys60Arg)
|
rs1057518860
|
|
NM_058246.4(DNAJB6):c.939_942del (p.Glu314fs)
|
rs1224632028
|
|
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)
|
rs767104257
|
|
NM_080627.4(MTCL2):c.3286G>T (p.Glu1096Ter)
|
rs373033244
|
|
NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC
|
|
|
NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val)
|
rs745434198
|
|
NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu)
|
rs1553403624
|
|
NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)
|
rs757962437
|
|
NM_130466.4(UBE3B):c.1166G>T (p.Trp389Leu)
|
rs368887776
|
|
NM_130797.4(DPP6):c.109G>T (p.Gly37Cys)
|
rs2240820
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.1626A>G (p.Glu542=)
|
rs1734453026
|
|
NM_130837.3(OPA1):c.1811C>T (p.Ser604Leu)
|
rs1734780550
|
|
NM_130837.3(OPA1):c.2489G>A (p.Trp830Ter)
|
rs1287548904
|
|
NM_130837.3(OPA1):c.2924A>G (p.Asp975Gly)
|
rs1432160044
|
|
NM_130837.3(OPA1):c.679-4G>T
|
rs757018661
|
|
NM_130839.5(UBE3A):c.2272G>A (p.Gly758Arg)
|
rs1057518770
|
|
NM_130839.5(UBE3A):c.2504_2516dup (p.Cys840fs)
|
rs1057518777
|
|
NM_133379.5(TTN):c.14407G>A (p.Glu4803Lys)
|
rs2084167410
|
|
NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu)
|
rs1743394245
|
|
NM_133433.4(NIPBL):c.161T>A (p.Leu54Ter)
|
rs1740842785
|
|
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)
|
rs1057518944
|
|
NM_133433.4(NIPBL):c.1849G>C (p.Glu617Gln)
|
rs1744586399
|
|
NM_133433.4(NIPBL):c.2126_2128delinsCTCTCAA (p.Ser709fs)
|
rs1744639200
|
|
NM_133433.4(NIPBL):c.3534_3535del (p.Lys1179fs)
|
rs1746711848
|
|
NM_133433.4(NIPBL):c.3548C>T (p.Ala1183Val)
|
rs892589257
|
|
NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala)
|
rs587784000
|
|
NM_133433.4(NIPBL):c.7459del (p.Glu2487fs)
|
rs1554034812
|
|
NM_138295.5(PKD1L1):c.1060+4del
|
rs781240034
|
|
NM_138295.5(PKD1L1):c.2454-18C>G
|
rs372682154
|
|
NM_138576.4(BCL11B):c.1657G>C (p.Glu553Gln)
|
rs1283714584
|
|
NM_138615.3(DHX30):c.1384G>A (p.Gly462Arg)
|
rs2037612180
|
|
NM_138691.3(TMC1):c.1201C>A (p.Leu401Ile)
|
rs1271495869
|
|
NM_138694.4(PKHD1):c.2716-3C>G
|
rs1057518964
|
|
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)
|
rs786204707
|
|
NM_138694.4(PKHD1):c.429T>G (p.Tyr143Ter)
|
rs1811318008
|
|
NM_138694.4(PKHD1):c.5081dup (p.Val1695fs)
|
rs1057518952
|
|
NM_138694.4(PKHD1):c.8020_8021del (p.Leu2674fs)
|
rs1771488619
|
|
NM_138694.4(PKHD1):c.9625A>C (p.Ser3209Arg)
|
rs1785450007
|
|
NM_138711.6(PPARG):c.46_58del (p.Ser17fs)
|
rs2049559215
|
|
NM_138927.4(SON):c.5221G>C (p.Asp1741His)
|
rs2085909010
|
|
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del)
|
rs398124508
|
|
NM_139058.3(ARX):c.1579_1582del (p.Arg527fs)
|
rs1057518794
|
|
NM_139125.4(MASP1):c.1492dup (p.Val498fs)
|
rs1713182815
|
|
NM_139125.4(MASP1):c.992_993del (p.Thr331fs)
|
rs749073173
|
|
NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val)
|
rs1699480267
|
|
NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe)
|
rs1699444080
|
|
NM_144599.5(NIPA1):c.178+9G>A
|
rs1259857257
|
|
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup)
|
rs531550505
|
|
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)
|
rs104894490
|
|
NM_144631.6(ZNF513):c.279_283del (p.Ala94fs)
|
rs1683490120
|
|
NM_144666.3(DNHD1):c.10717G>T (p.Glu3573Ter)
|
rs763743788
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
NM_144988.4(ALG14):c.421G>A (p.Val141Met)
|
rs946253637
|
|
NM_144997.7(FLCN):c.49dup (p.Arg17fs)
|
rs758385503
|
|
NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe)
|
rs786205868
|
|
NM_145239.3(PRRT2):c.524T>C (p.Val175Ala)
|
rs1162557576
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_145239.3(PRRT2):c.674A>G (p.Glu225Gly)
|
rs1057518890
|
|
NM_145239.3(PRRT2):c.910G>A (p.Asp304Asn)
|
rs1900136723
|
|
NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr)
|
rs757132796
|
|
NM_145262.4(GLYCTK):c.112G>A (p.Ala38Thr)
|
rs1700426072
|
|
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp)
|
rs1554612377
|
|
NM_145691.4(ATPAF2):c.98del (p.Ile33fs)
|
rs2044747934
|
|
NM_147127.5(EVC2):c.1882G>T (p.Glu628Ter)
|
rs186197620
|
|
NM_152263.4(TPM3):c.59T>C (p.Leu20Pro)
|
rs1663698070
|
|
NM_152269.5(MTRFR):c.215G>C (p.Gly72Ala)
|
rs1207537130
|
|
NM_152281.3(GORAB):c.61G>T (p.Asp21Tyr)
|
rs1648727549
|
|
NM_152296.5(ATP1A3):c.124T>C (p.Cys42Arg)
|
rs2075305399
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152296.5(ATP1A3):c.2419-14C>T
|
rs2075089174
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
NM_152296.5(ATP1A3):c.2835C>A (p.Ile945=)
|
rs2075059472
|
|
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)
|
rs542652468
|
|
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro)
|
rs879255368
|
|
NM_152419.3(HGSNAT):c.272del (p.Pro91fs)
|
rs1803166641
|
|
NM_152424.4(AMER1):c.1911_1912del (p.Glu637fs)
|
rs1555933313
|
|
NM_152424.4(AMER1):c.2048C>G (p.Ser683Ter)
|
rs1930237390
|
|
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)
|
rs202126574
|
|
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)
|
rs200387832
|
|
NM_152564.5(VPS13B):c.4545del (p.Ser1516fs)
|
rs1057518939
|
|
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs)
|
rs757435621
|
|
NM_152594.3(SPRED1):c.1A>G (p.Met1Val)
|
rs1894017295
|
|
NM_152641.4(ARID2):c.4640_4659del (p.Ala1547fs)
|
rs1943579551
|
|
NM_152703.5(SAMD9L):c.3156C>G (p.Asp1052Glu)
|
rs1792194225
|
|
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln)
|
rs387907050
|
|
NM_153006.3(NAGS):c.1096+2T>G
|
rs2049097522
|
|
NM_153603.4(COG7):c.1804-14C>A
|
rs768020092
|
|
NM_153676.4(USH1C):c.1053G>C (p.Glu351Asp)
|
rs1850407138
|
|
NM_153704.6(TMEM67):c.1381G>A (p.Val461Ile)
|
rs1036689562
|
|
NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3])
|
rs1554558365
|
|
NM_153741.2(DPM3):c.137T>A (p.Leu46Gln)
|
rs1057518905
|
|
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter)
|
rs1784370895
|
|
NM_170606.3(KMT2C):c.10874C>T (p.Pro3625Leu)
|
rs964546045
|
|
NM_170665.4(ATP2A2):c.136+21_136+22del
|
rs763637617
|
|
NM_170665.4(ATP2A2):c.688A>G (p.Thr230Ala)
|
rs1337166364
|
|
NM_170707.4(LMNA):c.130G>T (p.Val44Phe)
|
rs1057518971
|
|
NM_170707.4(LMNA):c.1488G>C (p.Thr496=)
|
rs375516745
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
NM_170707.4(LMNA):c.1678G>A (p.Asp560Asn)
|
rs1651791067
|
|
NM_170707.4(LMNA):c.937-5T>C
|
rs1001248677
|
|
NM_170784.3(MKKS):c.958_959del (p.Leu320fs)
|
rs770908659
|
|
NM_171998.4(RAB39B):c.349G>T (p.Val117Leu)
|
rs1557314233
|
|
NM_171998.4(RAB39B):c.64T>G (p.Ser22Ala)
|
rs2074862064
|
|
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg)
|
rs1057518772
|
|
NM_172107.4(KCNQ2):c.1828G>A (p.Glu610Lys)
|
rs1350422852
|
|
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu)
|
rs762130930
|
|
NM_172107.4(KCNQ2):c.199C>T (p.Pro67Ser)
|
rs972841085
|
|
NM_172107.4(KCNQ2):c.2245G>A (p.Glu749Lys)
|
rs796052658
|
|
NM_172107.4(KCNQ2):c.2272_2286del (p.Gly758_Ser762del)
|
rs2079961255
|
|
NM_172107.4(KCNQ2):c.2474C>G (p.Ala825Gly)
|
rs1568858969
|
|
NM_172107.4(KCNQ2):c.869G>T (p.Gly290Val)
|
rs397514582
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|
NM_172362.3(KCNH1):c.1717C>T (p.Arg573Cys)
|
rs1684345922
|
|
NM_172362.3(KCNH1):c.1958C>T (p.Thr653Ile)
|
rs1683842802
|
|
NM_172364.5(CACNA2D4):c.1663G>A (p.Ala555Thr)
|
rs1347668261
|
|
NM_173354.5(SIK1):c.1430T>G (p.Val477Gly)
|
rs2081044918
|
|
NM_173483.4(CYP4F22):c.1211T>C (p.Leu404Pro)
|
rs1555730246
|
|
NM_173483.4(CYP4F22):c.1544G>T (p.Arg515Leu)
|
rs1425964436
|
|
NM_173602.3(DIP2B):c.685T>A (p.Ser229Thr)
|
rs1938911020
|
|
NM_173630.4(RTTN):c.29T>C (p.Leu10Pro)
|
rs2062061239
|
|
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del)
|
rs776489992
|
|
NM_176806.4(MOCS2):c.30_34del (p.Leu10fs)
|
rs1741117263
|
|
NM_176811.2(NLRP8):c.1253A>G (p.Gln418Arg)
|
rs942644063
|
|
NM_177402.5(SYT2):c.1084_1089del (p.Tyr362_Asp363del)
|
rs1057518805
|
|
NM_177402.5(SYT2):c.358G>A (p.Ala120Thr)
|
rs987703370
|
|
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs)
|
rs875989784
|
|
NM_177965.4(CFAP418):c.363del (p.Asn121fs)
|
rs1811856716
|
|
NM_178857.6(RP1L1):c.5929G>C (p.Val1977Leu)
|
rs534151176
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
NM_181523.3(PIK3R1):c.769A>C (p.Asn257His)
|
rs1746797117
|
|
NM_181672.3(OGT):c.2636C>T (p.Pro879Leu)
|
rs2040424398
|
|
NM_181882.3(PRX):c.1561C>T (p.Gln521Ter)
|
rs200483634
|
|
NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp)
|
rs139120811
|
|
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly)
|
rs2079412133
|
|
NM_182641.4(BPTF):c.1568T>C (p.Met523Thr)
|
rs1168915388
|
|
NM_182641.4(BPTF):c.542ACG[7] (p.Asp184_Asp185dup)
|
rs554343942
|
|
NM_182641.4(BPTF):c.5709-14T>G
|
rs76697088
|
|
NM_182746.3(MCM4):c.220C>T (p.Gln74Ter)
|
rs1235010442
|
|
NM_182914.3(SYNE2):c.18005G>T (p.Arg6002Leu)
|
rs764566778
|
|
NM_182914.3(SYNE2):c.4959C>A (p.Asn1653Lys)
|
rs2096903791
|
|
NM_182914.3(SYNE2):c.5359C>A (p.Gln1787Lys)
|
rs2096938300
|
|
NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys)
|
rs750995691
|
|
NM_182925.5(FLT4):c.3247C>T (p.Pro1083Ser)
|
rs1762428823
|
|
NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu)
|
rs1762335528
|
|
NM_182925.5(FLT4):c.3610A>G (p.Thr1204Ala)
|
rs1189576922
|
|
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)
|
rs780770356
|
|
NM_182943.3(PLOD2):c.351dup (p.Phe118fs)
|
rs1937608887
|
|
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs)
|
rs2096651533
|
|
NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter)
|
rs866163858
|
|
NM_182961.4(SYNE1):c.17203-5C>A
|
rs886044642
|
|
NM_182961.4(SYNE1):c.19958G>C (p.Ser6653Thr)
|
rs1057518825
|
|
NM_182961.4(SYNE1):c.20863-5T>G
|
rs2082753195
|
|
NM_182961.4(SYNE1):c.888+2T>A
|
rs754518742
|
|
NM_182961.4(SYNE1):c.9827A>G (p.Asp3276Gly)
|
rs188684213
|
|
NM_182977.3(NNT):c.1575dup (p.Pro526fs)
|
rs1739624229
|
|
NM_182977.3(NNT):c.80G>A (p.Arg27His)
|
rs34241095
|
|
NM_183357.3(ADCY5):c.649del (p.Arg217fs)
|
rs1057518757
|
|
NM_194248.3(OTOF):c.2677-2A>G
|
rs1057518840
|
|
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)
|
rs147321712
|
|
NM_194318.4(B3GLCT):c.1177G>C (p.Gly393Arg)
|
rs776180719
|
|
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)
|
rs1057517753
|
|
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)
|
rs886039402
|
|
NM_194454.3(KRIT1):c.1854dup (p.His619fs)
|
rs1793298143
|
|
NM_194454.3(KRIT1):c.68T>G (p.Leu23Arg)
|
rs1799792039
|
|
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)
|
rs1554527169
|
|
NM_194454.3(KRIT1):c.990-1G>A
|
rs1554518790
|
|
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys)
|
rs2063220897
|
|
NM_198282.4(STING1):c.842G>A (p.Arg281Gln)
|
rs1561482476
|
|
NM_198390.3(CMIP):c.1035-1G>A
|
rs1904474095
|
|
NM_198576.4(AGRN):c.1177+4_1177+50del
|
rs765679438
|
|
NM_198578.4(LRRK2):c.1721del (p.Pro574fs)
|
rs1943372260
|
|
NM_198578.4(LRRK2):c.6448G>C (p.Val2150Leu)
|
rs755564073
|
|
NM_198578.4(LRRK2):c.7475G>T (p.Cys2492Phe)
|
rs774904977
|
|
NM_198904.4(GABRG2):c.787T>C (p.Ser263Pro)
|
rs1764617485
|
|
NM_198994.3(TGM6):c.76C>T (p.Pro26Ser)
|
rs766248910
|
|
NM_201253.3(CRB1):c.2708_2709del (p.His903fs)
|
rs1664767982
|
|
NM_201253.3(CRB1):c.3878+9C>T
|
rs1571564812
|
|
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)
|
rs1665282478
|
|
NM_201253.3(CRB1):c.523G>A (p.Val175Ile)
|
rs1166808508
|
|
NM_201253.3(CRB1):c.527C>T (p.Pro176Leu)
|
rs1417370819
|
|
NM_201253.3(CRB1):c.699T>A (p.Cys233Ter)
|
rs1659643864
|
|
NM_201269.3(ZNF644):c.2168A>G (p.His723Arg)
|
rs1651677177
|
|
NM_201384.3(PLEC):c.435+3A>T
|
rs1829221550
|
|
NM_201400.4(EEF2KMT):c.*1074C>T
|
rs1957081691
|
|
NM_201525.4(ADGRG1):c.1646G>T (p.Gly549Val)
|
rs1220215860
|
|
NM_201548.5(CERKL):c.677+3A>G
|
rs1553515435
|
|
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer)
|
rs780663139
|
|
NM_203446.3(SYNJ1):c.1625T>G (p.Val542Gly)
|
rs2041281036
|
|
NM_203447.4(DOCK8):c.2308G>C (p.Glu770Gln)
|
rs2053549124
|
|
NM_203447.4(DOCK8):c.3595G>A (p.Asp1199Asn)
|
rs2055912945
|
|
NM_205836.3(FBXO38):c.3244C>G (p.Pro1082Ala)
|
rs1754612690
|
|
NM_205861.3(DHDDS):c.584A>C (p.Asn195Thr)
|
rs778754350
|
|
NM_206809.4(MOG):c.88+18dup
|
rs749231725
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
NM_206933.4(USH2A):c.11549del
|
rs1660304704
|
|
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
|
rs775556188
|
|
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)
|
rs1553252388
|
|
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
|
rs1657920193
|
|
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)
|
rs397517987
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)
|
rs776323626
|
|
NM_206933.4(USH2A):c.6722C>A (p.Pro2241His)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
NM_207034.3(EDN3):c.143AGACTGTGGCTGGCCCTGGCGAGG[3] (p.48ETVAGPGE[3])
|
rs749390209
|
|
NM_207037.2(TCF12):c.1541C>A (p.Ser514Ter)
|
rs2060619071
|
|
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)
|
rs1954089713
|
|
NM_207346.3(TSEN54):c.1216dup (p.Thr406fs)
|
rs2053437943
|
|
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter)
|
rs113994153
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys)
|
rs760137559
|
|
NM_213599.3(ANO5):c.2029+2dup
|
rs1057518855
|
|
m.15923A>G
|
rs1556424691
|
|
m.3700G>A
|
rs397515508
|
|
m.9804G>A
|
rs200613617
|
|