ClinVar Miner

List of variants reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4116
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.