ClinVar Miner

List of variants reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2893
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu) rs3970555 0.00149
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_000065.5(C6):c.821del (p.Gln274fs) rs557023458 0.00131
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000587.4(C7):c.405del (p.Asn136fs) rs139491301 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser) rs104895503 0.00048
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867 0.00022
NM_000387.6(SLC25A20):c.198+2T>C rs147540030 0.00022
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_198053.3(CD247):c.301C>T (p.Gln101Ter) rs55729925 0.00021
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) rs189174414 0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter) rs376983373 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_016335.6(PRODH):c.930-1G>C rs751149776 0.00017
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg) rs201873521 0.00016
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter) rs140611214 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 0.00015
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00014
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860 0.00014
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter) rs142090504 0.00014
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) rs121434287 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000065.5(C6):c.1786C>T (p.Arg596Ter) rs142881576 0.00013
NM_001395891.1(CLASP1):c.196-591C>T rs756026847 0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_004407.4(DMP1):c.135+1G>T rs141480996 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00012
NM_000250.2(MPO):c.249-2A>G rs762526880 0.00012
NM_001363711.2(DUOX2):c.3006-2A>G rs371960046 0.00012
NM_020191.4(MRPS22):c.509G>A (p.Arg170His) rs119478059 0.00012
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp) rs104894072 0.00011
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) rs150046661 0.00011
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772 0.00011
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_014585.6(SLC40A1):c.626C>T (p.Ser209Leu) rs200018415 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_020442.6(VARS2):c.2467-2A>G rs200075594 0.00011
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys) rs202073531 0.00011
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512 0.00011
NM_203395.3(IYD):c.658G>A (p.Ala220Thr) rs121918140 0.00011
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000349.3(STAR):c.815G>A (p.Arg272His) rs540090187 0.00010
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_001127217.3(SMAD9):c.781+2T>A rs770716081 0.00010
NM_001136193.2(FASTKD2):c.882-1G>A rs767682048 0.00010
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000383.4(AIRE):c.1095+2T>C rs760280615 0.00009
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602 0.00009
NM_001126108.2(SLC12A3):c.602-16G>A rs750901478 0.00009
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His) rs63750427 0.00009
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys) rs141744337 0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) rs777425801 0.00009
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) rs121964881 0.00009
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs) rs751845138 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004366.6(CLCN2):c.898+1G>A rs141074059 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538 0.00008
NM_001018115.3(FANCD2):c.1279-2A>G rs748006255 0.00008
NM_002528.7(NTHL1):c.526-1G>A rs779757251 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter) rs143740376 0.00008
NM_025243.4(SLC19A3):c.980-14A>G rs200542114 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000187.4(HGD):c.125A>C (p.Glu42Ala) rs373921680 0.00007
NM_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001349206.2(LPIN1):c.1807-2A>G rs533651991 0.00007
NM_001364171.2(ODAD1):c.1502+5G>A rs201133219 0.00007
NM_001379270.1(CNGA1):c.1873C>T (p.Arg625Ter) rs376959147 0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His) rs781691587 0.00007
NM_052989.3(IFT122):c.272+1G>A rs372483083 0.00007
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
NM_199069.2(NDUFAF3):c.489_490del (p.Gly164fs) rs746835381 0.00007
NR_003051.3(RMRP):n.-22_-13dup rs1554651507 0.00007
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00006
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp) rs970505762 0.00006
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys) rs781474200 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000587.4(C7):c.1135G>C (p.Gly379Arg) rs121964921 0.00006
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr) rs201945662 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_001171.6(ABCC6):c.2542del (p.Met848fs) rs67867306 0.00006
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 0.00006
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) rs374086268 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter) rs964532159 0.00006
NM_001303.4(COX10):c.1007A>T (p.Asp336Val) rs104894557 0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_001384479.1(AGT):c.829+1G>T rs747815674 0.00006
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) rs80338891 0.00006
NM_004482.4(GALNT3):c.1524+5G>A rs375879489 0.00006
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln) rs147757966 0.00006
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537 0.00006
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) rs772544112 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) rs80338729 0.00006
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter) rs202247807 0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900 0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met) rs181509591 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_020365.5(EIF2B3):c.272G>A (p.Arg91His) rs141988913 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NR_003051.4(RMRP):n.37C>T rs549085067 0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000030.3(AGXT):c.353G>A (p.Arg118His) rs138025751 0.00005
NM_000112.4(SLC26A2):c.700-1G>C rs200963884 0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000312.4(PROC):c.541T>G (p.Phe181Val) rs199469470 0.00005
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp) rs765828196 0.00005
NM_000379.4(XDH):c.1602+1G>A rs376882470 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001174089.2(SLC4A11):c.2192+1G>A rs759540763 0.00005
NM_001243279.3(ACSF3):c.246del (p.Cys83fs) rs772073893 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_001395891.1(CLASP1):c.196-602C>T rs863225422 0.00005
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_004260.4(RECQL4):c.2650del (p.Gln884fs) rs1203766600 0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter) rs200416242 0.00005
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) rs745870736 0.00005
NM_020451.3(SELENON):c.1A>G (p.Met1Val) rs121908184 0.00005
NM_024596.5(MCPH1):c.1974-2A>G rs541042265 0.00005
NM_080860.4(RSPH1):c.727+5G>A rs200382776 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu) rs765990518 0.00005
NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter) rs371886218 0.00005
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter) rs184351619 0.00005
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter) rs377215024 0.00004
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter) rs764046610 0.00004
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter) rs1057516968 0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser) rs386833479 0.00004
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter) rs768687646 0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) rs1057942 0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272 0.00004
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg) rs762479018 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168 0.00004
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) rs139081695 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786 0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) rs104894068 0.00004
NM_000498.3(CYP11B2):c.1398+1G>A rs539836429 0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) rs72552758 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) rs764485070 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424 0.00004
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter) rs780433845 0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) rs118204008 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter) rs770749420 0.00004
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028 0.00004
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) rs139322149 0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001142800.2(EYS):c.3878-2A>G rs752930400 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val) rs180869804 0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) rs770689762 0.00004
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter) rs772430523 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) rs149808404 0.00004
NM_001371986.1(UNC80):c.298+2T>C rs143612678 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_001378609.3(OTOGL):c.63del (p.Leu22fs) rs376104832 0.00004
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302 0.00004
NM_001673.5(ASNS):c.1211G>A (p.Arg404His) rs774808316 0.00004
NM_001735.3(C5):c.4679-2A>G rs191466386 0.00004
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) rs777181377 0.00004
NM_002204.4(ITGA3):c.2623C>T (p.Arg875Ter) rs200810866 0.00004
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844 0.00004
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) rs766548165 0.00004
NM_003041.4(SLC5A2):c.1280+1G>A rs554372141 0.00004
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter) rs200893951 0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668 0.00004
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_003982.4(SLC7A7):c.377del (p.Ile126fs) rs774080549 0.00004
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter) rs756436580 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) rs367585605 0.00004
NM_005989.4(AKR1D1):c.864del (p.Ser290fs) rs759908186 0.00004
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) rs71532863 0.00004
NM_006005.3(WFS1):c.2293del (p.Cys765fs) rs1381011685 0.00004
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 0.00004
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014956.5(CEP164):c.1669dup (p.Glu557fs) rs749114363 0.00004
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter) rs562932233 0.00004
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter) rs149195472 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu) rs752866557 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922 0.00004
NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys) rs374823079 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_144585.4(SLC22A12):c.650C>T (p.Thr217Met) rs121907893 0.00004
NM_145038.5(DRC1):c.1599+1G>A rs146412095 0.00004
NM_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile) rs761558985 0.00004
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) rs148670389 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_182476.3(COQ6):c.349C>T (p.Arg117Ter) rs376848848 0.00004
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter) rs370699359 0.00004
NM_203395.3(IYD):c.301C>T (p.Arg101Trp) rs121918138 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) rs769926034 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NM_000019.4(ACAT1):c.951C>T (p.Asp317=) rs747714452 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly) rs140549609 0.00003
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile) rs541408630 0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg) rs899227425 0.00003
NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=) rs758886532 0.00003
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter) rs879802265 0.00003
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) rs778865255 0.00003
NM_000128.4(F11):c.3G>T (p.Met1Ile) rs755700350 0.00003
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000157.4(GBA1):c.762-1G>C rs1237637353 0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly) rs188269735 0.00003
NM_000229.2(LCAT):c.367C>T (p.Arg123Cys) rs140068549 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000349.3(STAR):c.824T>C (p.Leu275Pro) rs762245736 0.00003
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu) rs121909176 0.00003
NM_000478.6(ALPL):c.1120G>A (p.Val374Met) rs552831415 0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) rs121918017 0.00003
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val) rs375892072 0.00003
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met) rs765921219 0.00003
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp) rs398123499 0.00003
NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp) rs749537609 0.00003
NM_001003841.3(SLC6A19):c.774+1G>A rs554777392 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter) rs200328403 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106 0.00003
NM_001128159.3(VPS53):c.1312_1313+2del rs768997239 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp) rs63750402 0.00003
NM_001171613.2(PREPL):c.888+1G>A rs758019788 0.00003
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001177316.2(SLC34A3):c.449-1G>C rs1345816189 0.00003
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln) rs140124953 0.00003
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) rs556552435 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter) rs542074139 0.00003
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001297.5(CNGB1):c.1210-2A>G rs373232101 0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs) rs1318653026 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817 0.00003
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter) rs772230378 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971 0.00003
NM_001378454.1(ALMS1):c.11669-2A>G rs952110960 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_002016.2(FLG):c.138+1G>C rs756254959 0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) rs121909626 0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His) rs113994064 0.00003
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807 0.00003
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289 0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266 0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser) rs104893960 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00003
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) rs397515411 0.00003
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) rs765741202 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met) rs753866301 0.00003
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter) rs770582052 0.00003
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter) rs780525233 0.00003
NM_014714.4(IFT140):c.1901+1G>T rs375910993 0.00003
NM_014967.5(FAN1):c.1899del (p.Cys633fs) rs761988851 0.00003
NM_014967.5(FAN1):c.2264del (p.Glu755fs) rs756840415 0.00003
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter) rs758275952 0.00003
NM_015272.5(RPGRIP1L):c.1244-1G>T rs1306595038 0.00003
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) rs515726196 0.00003
NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu) rs758201217 0.00003
NM_018451.5(CENPJ):c.40C>T (p.Gln14Ter) rs201822162 0.00003
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg) rs863225072 0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102 0.00003
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs) rs1252623454 0.00003
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00003
NM_022356.4(P3H1):c.2055+18G>A rs137853890 0.00003
NM_024079.5(ALG8):c.673+4A>G rs1470636347 0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs) rs748930384 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_138413.4(HOGA1):c.812G>A (p.Arg271His) rs750974539 0.00003
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys) rs149150736 0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) rs754626014 0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu) rs373745258 0.00003
NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter) rs377205432 0.00003
NM_172250.3(MMAA):c.658G>A (p.Val220Met) rs150376474 0.00003
NM_176824.3(BBS7):c.1654dup (p.Thr552fs) rs773052355 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) rs143604970 0.00003
NM_000016.6(ACADM):c.601del (p.Tyr201fs) rs772650083 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141 0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689 0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514 0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser) rs755528878 0.00002
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000091.5(COL4A3):c.2535del (p.Leu846fs) rs993103826 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000094.4(COL7A1):c.7104+1G>A rs772756089 0.00002
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565 0.00002
NM_000103.4(CYP19A1):c.297-1G>C rs768157788 0.00002
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) rs774144200 0.00002
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys) rs1264734195 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357 0.00002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) rs965316043 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682 0.00002
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) rs74315407 0.00002
NM_000312.4(PROC):c.169C>T (p.Arg57Trp) rs757583846 0.00002
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr) rs199919553 0.00002
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs) rs749566145 0.00002
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) rs104894326 0.00002
NM_000486.6(AQP2):c.360+1G>A rs745861885 0.00002
NM_000528.4(MAN2B1):c.1026+2T>G rs369099686 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs) rs759632485 0.00002
NM_000574.5(CD55):c.286+2T>G rs752360687 0.00002
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp) rs121912699 0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_001042413.2(GLIS3):c.94C>T (p.Arg32Ter) rs753993867 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) rs773847168 0.00002
NM_001126108.2(SLC12A3):c.2721-1G>A rs761242621 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys) rs63751215 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387 0.00002
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001297.5(CNGB1):c.217+5G>C rs527236060 0.00002
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro) rs748763552 0.00002
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter) rs750126005 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162 0.00002
NM_001927.4(DES):c.1288+1G>A rs112224037 0.00002
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002225.5(IVD):c.205G>A (p.Asp69Asn) rs747273828 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002662.5(PLD1):c.2543+1G>T rs779667018 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp) rs148410166 0.00002
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter) rs752254977 0.00002
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_005609.4(PYGM):c.1768+2T>G rs747513238 0.00002
NM_005807.6(PRG4):c.3496C>T (p.Arg1166Ter) rs773621375 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys) rs1459252796 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_014639.4(SKIC3):c.1374C>G (p.Tyr458Ter) rs373796916 0.00002
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) rs764893412 0.00002
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691 0.00002
NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs) rs751662952 0.00002
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648 0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter) rs139804668 0.00002
NM_015512.5(DNAH1):c.7864C>T (p.Arg2622Ter) rs368033879 0.00002
NM_015662.3(IFT172):c.402+2T>G rs774548930 0.00002
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) rs515726180 0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194 0.00002
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_016955.4(SEPSECS):c.389-1G>A rs754373273 0.00002
NM_017947.4(MOCOS):c.2164+2T>C rs1164875023 0.00002
NM_018006.5(TRMU):c.249-2A>G rs768299416 0.00002
NM_018082.6(POLR3B):c.1263+2T>C rs774526181 0.00002
NM_019109.5(ALG1):c.1188-2A>G rs794727073 0.00002
NM_019109.5(ALG1):c.841G>T (p.Val281Phe) rs553396382 0.00002
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.639+5G>T rs768630906 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_020812.4(DOCK6):c.4012C>T (p.Arg1338Ter) rs775397068 0.00002
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969 0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) rs781192528 0.00002
NM_024753.5(TTC21B):c.1386+1G>T rs764514397 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) rs762739726 0.00002
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter) rs914062190 0.00002
NM_033380.3(COL4A5):c.231+2T>C rs763538451 0.00002
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434 0.00002
NM_052989.3(IFT122):c.1148-1G>C rs755005244 0.00002
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002
NM_080860.4(RSPH1):c.196C>T (p.Arg66Ter) rs753105954 0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu) rs376239580 0.00002
NM_145207.3(AFG2A):c.1540C>T (p.Arg514Ter) rs1446807404 0.00002
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter) rs748875458 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 0.00002
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val) rs104894246 0.00002
NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp) rs201129618 0.00002
NM_178170.3(NEK8):c.889+1G>T rs780247729 0.00002
NM_181507.2(HPS5):c.1862+1G>A rs778500897 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter) rs753973135 0.00002
NM_000016.6(ACADM):c.599+1G>A rs866388216 0.00001
NM_000019.4(ACAT1):c.826+1G>T rs727503796 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184 0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408 0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000045.4(ARG1):c.372dup (p.Ala125fs) rs776939220 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly) rs756363516 0.00001
NM_000049.4(ASPA):c.2T>C (p.Met1Thr) rs1057516879 0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr) rs769653717 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.8615_8616del (p.His2872fs) rs1232259438 0.00001
NM_000051.4(ATM):c.8786+1G>T rs17174393 0.00001
NM_000053.4(ATP7B):c.1708-5T>G rs770829226 0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp) rs374172791 0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884 0.00001
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) rs761632029 0.00001
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter) rs1033235740 0.00001
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) rs779494870 0.00001
NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys) rs782806507 0.00001
NM_000057.4(BLM):c.2823+2T>A rs1896712920 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg) rs1345121557 0.00001
NM_000080.4(CHRNE):c.-96C>T rs748144899 0.00001
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) rs770499406 0.00001
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) rs1256505387 0.00001
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314 0.00001
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val) rs1183958961 0.00001
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter) rs1189607438 0.00001
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs) rs756133651 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala) rs1559594442 0.00001
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) rs776036994 0.00001
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs) rs1162601696 0.00001
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000092.5(COL4A4):c.559-2A>G rs766243664 0.00001
NM_000092.5(COL4A4):c.559-2A>T rs766243664 0.00001
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val) rs2061040474 0.00001
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val) rs760795817 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter) rs1486141784 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493 0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile) rs61754262 0.00001
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu) rs529769268 0.00001
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) rs72549310 0.00001
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter) rs1055129064 0.00001
NM_000123.4(ERCC5):c.673-2A>G rs756420203 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000152.5(GAA):c.2189+1G>T rs1209887739 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.743T>C (p.Leu248Pro) rs1443844938 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000153.4(GALC):c.621+1G>A rs759511006 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533 0.00001
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) rs121908305 0.00001
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) rs794727908 0.00001
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser) rs768532620 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000170.3(GLDC):c.1401+1G>A rs1211616091 0.00001
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val) rs1275684568 0.00001
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met) rs781570584 0.00001
NM_000179.3(MSH6):c.3801+1G>T rs876660943 0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173 0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174 0.00001
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys) rs771028541 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000187.4(HGD):c.291G>A (p.Trp97Ter) rs766714128 0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis) rs397509434 0.00001
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu) rs28934880 0.00001
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) rs1424242431 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000203.5(IDUA):c.1190-2A>T rs994902207 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000207.3(INS):c.1A>G (p.Met1Val) rs757124361 0.00001
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) rs121913148 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp) rs199472726 0.00001
NM_000229.2(LCAT):c.110C>T (p.Thr37Met) rs971887742 0.00001
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) rs121912523 0.00001
NM_000238.4(KCNH2):c.1128+1810C>T rs972201049 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000255.4(MMUT):c.1084-2A>G rs879253839 0.00001
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060 0.00001
NM_000255.4(MMUT):c.581C>T (p.Pro194Leu) rs1254433398 0.00001
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693 0.00001
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107 0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755 0.00001
NM_000275.3(OCA2):c.807+1G>T rs763219039 0.00001
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly) rs769408559 0.00001
NM_000277.3(PAH):c.1259G>T (p.Arg420Met) rs767075719 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.442-5C>G rs62514909 0.00001
NM_000277.3(PAH):c.913-7A>G rs62517165 0.00001
NM_000278.5(PAX2):c.616+5648T>C rs747453876 0.00001
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg) rs104894177 0.00001
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp) rs760042062 0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929 0.00001
NM_000303.3(PMM2):c.66+1G>T rs937726878 0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter) rs149530060 0.00001
NM_000312.4(PROC):c.124C>T (p.Arg42Cys) rs774572099 0.00001
NM_000313.4(PROS1):c.1064G>A (p.Arg355His) rs780863931 0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe) rs1317230624 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) rs780619649 0.00001
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs) rs777149216 0.00001
NM_000341.4(SLC3A1):c.766-2A>C rs201376169 0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089 0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) rs551783234 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) rs371489809 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His) rs760062120 0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000353.3(TAT):c.889C>T (p.Arg297Ter) rs758491525 0.00001
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser) rs904122716 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser) rs762304556 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp) rs121908871 0.00001
NM_000379.4(XDH):c.2198-2A>C rs1281159761 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
NM_000384.3(APOB):c.1672C>T (p.Arg558Ter) rs878853970 0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350 0.00001
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) rs764256845 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys) rs28933074 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter) rs1463264889 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val) rs756418235 0.00001
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val) rs772682471 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg) rs786204442 0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000486.6(AQP2):c.377C>T (p.Thr126Met) rs104894330 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023 0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_000498.3(CYP11B2):c.1200+1G>A rs761385416 0.00001
NM_000498.3(CYP11B2):c.682G>T (p.Glu228Ter) rs1817612031 0.00001
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) rs200164773 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_000527.5(LDLR):c.1060+2T>G rs774069731 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000532.5(PCCB):c.1535G>A (p.Arg512His) rs764697873 0.00001
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) rs202247822 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter) rs1434362838 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.14129+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000553.6(WRN):c.1351-1G>A rs1170732591 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870 0.00001
NM_000642.3(AGL):c.2309-2A>G rs1253347170 0.00001
NM_000642.3(AGL):c.3259+1G>A rs1394576194 0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter) rs145362161 0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) rs398123503 0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) rs369448982 0.00001
NM_000732.6(CD3D):c.407-2A>G rs1341165259 0.00001
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp) rs72547508 0.00001
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) rs767480544 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.796-1G>T rs779828095 0.00001
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs) rs2091618729 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln) rs121908007 0.00001
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter) rs375857763 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001040716.2(PC):c.633+2T>C rs763433647 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NM_001079866.2(BCS1L):c.696del (p.Gly233fs) rs775388576 0.00001
NM_001079866.2(BCS1L):c.889+1G>T rs1057516346 0.00001
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys) rs1197613485 0.00001
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His) rs1280810181 0.00001
NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter) rs149592537 0.00001
NM_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter) rs769983282 0.00001
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) rs1461982823 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu) rs121909383 0.00001
NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu) rs1375515522 0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn) rs753523115 0.00001
NM_001126108.2(SLC12A3):c.1485C>A (p.Phe495Leu) rs1297766065 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) rs749742102 0.00001
NM_001126108.2(SLC12A3):c.438C>A (p.Cys146Ter) rs751409326 0.00001
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe) rs748547209 0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu) rs772589653 0.00001
NM_001127671.2(LIFR):c.478_479del (p.Arg160fs) rs1242667371 0.00001
NM_001128159.3(VPS53):c.1556+5G>A rs587777466 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg) rs776472879 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001136193.2(FASTKD2):c.906G>A (p.Trp302Ter) rs751316870 0.00001
NM_001142800.2(EYS):c.3970del (p.Leu1324fs) rs1431710414 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.7970del (p.Asp2657fs) rs1477098845 0.00001
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg) rs1233324021 0.00001
NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg) rs1233324021 0.00001
NM_001177316.2(SLC34A3):c.1242C>A (p.Tyr414Ter) rs949841477 0.00001
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter) rs762610288 0.00001
NM_001177316.2(SLC34A3):c.846+1G>A rs754054340 0.00001
NM_001182.5(ALDH7A1):c.1565+1G>T rs1064793830 0.00001
NM_001199397.3(NEK1):c.2588-2A>G rs201769828 0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) rs758748280 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln) rs749547712 0.00001
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter) rs776995095 0.00001
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994 0.00001
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter) rs759338401 0.00001
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.56051-1G>A rs1385817640 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs) rs1205409465 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs) rs794729351 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455 0.00001
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter) rs377691013 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001286577.2(C2CD3):c.1861C>T (p.Arg621Ter) rs750328756 0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852 0.00001
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met) rs760428437 0.00001
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095 0.00001
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter) rs756564881 0.00001
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter) rs774187452 0.00001
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter) rs761810492 0.00001
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs) rs770283117 0.00001
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779 0.00001
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter) rs1558649531 0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter) rs759024519 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter) rs771994237 0.00001
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter) rs761713440 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter) rs956247442 0.00001
NM_001378609.3(OTOGL):c.1890-1G>T rs777911261 0.00001
NM_001384474.1(LOXHD1):c.246-2A>G rs763062406 0.00001
NM_001384479.1(AGT):c.1060C>T rs778806374 0.00001
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs) rs1327245073 0.00001
NM_001384732.1(CPLANE1):c.3673-1G>C rs886041688 0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys) rs72557954 0.00001
NM_001673.5(ASNS):c.277C>T (p.Gln93Ter) rs757729851 0.00001
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter) rs1572924733 0.00001
NM_001735.3(C5):c.1407G>A (p.Trp469Ter) rs1408798589 0.00001
NM_001735.3(C5):c.2257+1G>A rs750416999 0.00001
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys) rs375477517 0.00001
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter) rs1877827904 0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920 0.00001
NM_001927.4(DES):c.634C>T (p.Arg212Ter) rs781590560 0.00001
NM_001927.4(DES):c.885G>A (p.Trp295Ter) rs146755676 0.00001
NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs) rs773328409 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp) rs797044989 0.00001
NM_002225.5(IVD):c.286+2T>C rs748026507 0.00001
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val) rs121908592 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_002292.4(LAMB2):c.1564del (p.Cys522fs) rs1377725272 0.00001
NM_002292.4(LAMB2):c.440A>G (p.His147Arg) rs387906644 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002334.4(LRP4):c.1184-1G>A rs1941502709 0.00001
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) rs1398692057 0.00001
NM_002437.5(MPV17):c.408+1G>A rs749361266 0.00001
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter) rs763400903 0.00001
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) rs121913623 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) rs28939679 0.00001
NM_002528.7(NTHL1):c.685+1G>A rs372946560 0.00001
NM_002693.3(POLG):c.3104+2T>A rs747632869 0.00001
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) rs1426432774 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu) rs756650860 0.00001
NM_003060.4(SLC22A5):c.71del (p.Leu24fs) rs775502377 0.00001
NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter) rs931801909 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) rs782021521 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003401.5(XRCC4):c.628A>T (p.Lys210Ter) rs991596636 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003640.5(ELP1):c.1361-1G>T rs372225464 0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) rs761911009 0.00001
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter) rs762224071 0.00001
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter) rs141019458 0.00001
NM_003748.4(ALDH4A1):c.139C>T (p.Arg47Ter) rs756807746 0.00001
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter) rs386833798 0.00001
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs) rs752263234 0.00001
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs) rs1355745932 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004006.3(DMD):c.6763-2A>G rs398124033 0.00001
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter) rs727502869 0.00001
NM_004168.4(SDHA):c.1432_1432+1del rs878854627 0.00001
NM_004168.4(SDHA):c.1663+1G>T rs766667009 0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) rs779253471 0.00001
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) rs200920510 0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449 0.00001
NM_004525.3(LRP2):c.3667+1G>A rs752197557 0.00001
NM_004553.6(NDUFS6):c.309+5G>A rs763535523 0.00001
NM_004560.4(ROR2):c.175+1G>A rs753069829 0.00001
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser) rs1226997153 0.00001
NM_004562.3(PRKN):c.1A>G (p.Met1Val) rs772786691 0.00001
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln) rs1451194842 0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) rs767443643 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889 0.00001
NM_004646.4(NPHS1):c.2663+2T>G rs762392183 0.00001
NM_004646.4(NPHS1):c.3287-2A>C rs758432802 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_004817.4(TJP2):c.1056+2T>C rs1278244243 0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.61+2T>C rs767289120 0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) rs1559302834 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1566-1G>A rs1570474015 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_005506.4(SCARB2):c.994+2T>C rs1168653552 0.00001
NM_005726.6(TSFM):c.908_909del (p.Gln303fs) rs1491203033 0.00001
NM_005908.4(MANBA):c.960+1G>A rs890870104 0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys) rs181969865 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter) rs1335076773 0.00001
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter) rs1590817956 0.00001
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 0.00001
NM_006118.4(HAX1):c.663+1G>A rs41313932 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_006269.2(RP1):c.1468G>T (p.Glu490Ter) rs765035454 0.00001
NM_006412.4(AGPAT2):c.662-2A>C rs1131691791 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala) rs1472900688 0.00001
NM_012062.5(DNM1L):c.1596+2T>A rs769684495 0.00001
NM_012120.3(CD2AP):c.764dup (p.Ser256fs) rs776297606 0.00001
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_012203.2(GRHPR):c.735-2del rs1257080057 0.00001
NM_012203.2(GRHPR):c.865+1G>T rs771990662 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_014049.5(ACAD9):c.1030-1G>T rs773586510 0.00001
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr) rs763004980 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His) rs1281345070 0.00001
NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val) rs769448665 0.00001
NM_014336.5(AIPL1):c.276+1G>A rs150097891 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter) rs149055711 0.00001
NM_014425.5(INVS):c.2786+1G>A rs935629850 0.00001
NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser) rs387907377 0.00001
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 0.00001
NM_014714.4(IFT140):c.2578-2A>G rs2040685752 0.00001
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) rs144513458 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.3874-1G>A rs749563050 0.00001
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys) rs119475041 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter) rs765277720 0.00001
NM_014956.5(CEP164):c.1724+1G>A rs1489883516 0.00001
NM_014956.5(CEP164):c.2493+1G>A rs778819060 0.00001
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter) rs774951398 0.00001
NM_015047.3(EMC1):c.426C>A (p.Tyr142Ter) rs370952454 0.00001
NM_015102.5(NPHP4):c.1504-1G>A rs1204924769 0.00001
NM_015166.4(MLC1):c.321+1G>A rs765879182 0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met) rs281875316 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter) rs201081228 0.00001
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135 0.00001
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) rs1456208953 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.776+1G>A rs771226563 0.00001
NM_015346.4(ZFYVE26):c.6144C>A (p.Tyr2048Ter) rs756042888 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428 0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs) rs768978351 0.00001
NM_015512.5(DNAH1):c.7676del (p.Val2559fs) rs765417610 0.00001
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter) rs761095604 0.00001
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_015713.5(RRM2B):c.253_255del (p.Glu85del) rs515726184 0.00001
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs) rs757070287 0.00001
NM_016341.4(PLCE1):c.4483C>T (p.Arg1495Ter) rs548655036 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter) rs782331682 0.00001
NM_017570.5(OPLAH):c.587+1G>A rs1272869557 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017827.4(SARS2):c.30G>A (p.Trp10Ter) rs145754412 0.00001
NM_017882.3(CLN6):c.486+1G>A rs756522171 0.00001
NM_017947.4(MOCOS):c.1335+1G>T rs1318625944 0.00001
NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter) rs1312712049 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_018297.4(NGLY1):c.1150-1G>C rs532007026 0.00001
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450 0.00001
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter) rs1227032564 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_019098.5(CNGB3):c.1929-1G>A rs750257554 0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) rs1554619514 0.00001
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter) rs1474783444 0.00001
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00001
NM_020320.5(RARS2):c.1406G>A (p.Arg469His) rs759331139 0.00001
NM_020320.5(RARS2):c.1415+2T>C rs772989345 0.00001
NM_020320.5(RARS2):c.297+2T>G rs574343583 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) rs121908374 0.00001
NM_020632.3(ATP6V0A4):c.2257+1G>A rs145809731 0.00001
NM_020632.3(ATP6V0A4):c.52C>T (p.Gln18Ter) rs1384393001 0.00001
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter) rs756036451 0.00001
NM_021871.4(FGA):c.364+1G>A rs778779380 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_022041.4(GAN):c.851+1G>A rs747291494 0.00001
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) rs1264582344 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs) rs751910922 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) rs119103220 0.00001
NM_022834.5(VWA1):c.1088_1091dup (p.Tyr364Ter) rs1557770517 0.00001
NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter) rs756868374 0.00001
NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter) rs780116486 0.00001
NM_024079.5(ALG8):c.368+2T>G rs756894409 0.00001
NM_024079.5(ALG8):c.95+1G>A rs1323512637 0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs) rs777686455 0.00001
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr) rs531254130 0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) rs752582904 0.00001
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980 0.00001
NM_024422.6(DSC2):c.34_35del (p.Gly12fs) rs1395367133 0.00001
NM_024649.5(BBS1):c.1111-2A>G rs761969357 0.00001
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter) rs1555202657 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_024740.2(ALG9):c.566-1G>A rs782379446 0.00001
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.3102-2A>G rs779472675 0.00001
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter) rs754596743 0.00001
NM_025074.7(FRAS1):c.10948C>T (p.Gln3650Ter) rs878853009 0.00001
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter) rs777438557 0.00001
NM_025074.7(FRAS1):c.934C>T (p.Gln312Ter) rs377137481 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.2363+1G>A rs886041912 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs) rs1459810136 0.00001
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) rs1015798796 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_032119.4(ADGRV1):c.13232-1G>A rs764583867 0.00001
NM_032119.4(ADGRV1):c.9907-1G>A rs769286352 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter) rs1267428175 0.00001
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs) rs763914156 0.00001
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263 0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) rs137852885 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
NM_033305.3(VPS13A):c.8325+1G>A rs1459022689 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter) rs1185183557 0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter) rs758615834 0.00001
NM_133259.4(LRPPRC):c.650+1G>C rs1249427615 0.00001
NM_138413.4(HOGA1):c.700+2T>G rs990830655 0.00001
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651 0.00001
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter) rs371928571 0.00001
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780 0.00001
NM_138694.4(PKHD1):c.53-1G>A rs775511838 0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) rs1313206550 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs) rs779168950 0.00001
NM_139027.6(ADAMTS13):c.330+2T>C rs1474290508 0.00001
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter) rs397514613 0.00001
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter) rs143481438 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_148960.3(CLDN19):c.83C>T (p.Pro28Leu) rs553635114 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274 0.00001
NM_152617.4(RNF168):c.493C>T (p.Arg165Ter) rs148275050 0.00001
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546 0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757 0.00001
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter) rs1194574169 0.00001
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288 0.00001
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200 0.00001
NM_153240.5(NPHP3):c.2171+1G>A rs1280230808 0.00001
NM_153240.5(NPHP3):c.2311-2A>G rs1332659264 0.00001
NM_153676.4(USH1C):c.2227-1G>T rs778110397 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter) rs746509804 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_170784.3(MKKS):c.380del (p.Cys127fs) rs867346158 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter) rs772294726 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter) rs151275562 0.00001
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter) rs769683272 0.00001
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) rs371666412 0.00001
NM_178452.6(DNAAF1):c.1012del (p.Arg338fs) rs762843285 0.00001
NM_181426.2(CCDC39):c.2335C>T (p.Gln779Ter) rs1717267418 0.00001
NM_182916.3(TRNT1):c.1010del (p.Thr337fs) rs772805677 0.00001
NM_198129.4(LAMA3):c.7158+1G>A rs1057516279 0.00001
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter) rs747169857 0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201548.5(CERKL):c.1074-1G>C rs927261937 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_205861.3(DHDDS):c.658-2A>G rs1248671884 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00001
NR_003051.3(RMRP):n.-22_-14dup rs1563908167 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
GRCh37/hg19 11q13.4(chr11:71155018-71156024)
GRCh37/hg19 11q23.3(chr11:117278620-117284002)
GRCh37/hg19 22q11.21(chr22:18900895-18923882)
GRCh37/hg19 2q31.1(chr2:170134234-170137049)
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
GRCh37/hg19 4q22.1(chr4:88973122-88979275)
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
GRCh37/hg19 6q26(chr6:162206818-162206900)
GRCh37/hg19 6q26(chr6:162475128-162475157)
GRCh37/hg19 6q26(chr6:162683576-162683772)
GRCh37/hg19 6q26(chr6:162864400-162864441)
GRCh37/hg19 Xq22.3(chrX:107802273-107802403)
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000018.9:g.77733765C>A rs727502793
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] rs281865421
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del) rs1570866192
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys) rs1432183079
NM_000019.4(ACAT1):c.261dup (p.Glu88fs) rs1201662412
NM_000019.4(ACAT1):c.571del (p.Ile191fs) rs761038005
NM_000019.4(ACAT1):c.824del (p.Asn275fs) rs1163072872
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg) rs1085307418
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) rs1592224291
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) rs180177236
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) rs180177252
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.673del (p.Glu225fs) rs758133069
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs) rs1561594148
NM_000043.6(FAS):c.651+1G>A rs1564696849
NM_000045.4(ARG1):c.665+2T>C rs113645893
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.527-2A>C rs778385612
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.4(ATM):c.471T>A (p.Cys157Ter) rs1555059459
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs) rs1591702700
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.7203del (p.Ile2401fs) rs2136417490
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.2122-1G>A rs1319653818
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.3556+1G>T rs184388696
NM_000053.4(ATP7B):c.3700-1G>A rs1555284021
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro) rs1444841250
NM_000053.4(ATP7B):c.51dup rs1954023351
NM_000053.4(ATP7B):c.956del (p.Pro319fs) rs753674382
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser) rs781950164
NM_000054.7(AVPR2):c.752_758del (p.Arg251fs) rs193922118
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.2482T>C (p.Tyr828His) rs1060502466
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000065.5(C6):c.2335_2336del (p.Gln779fs) rs771792933
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) rs2102144416
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) rs1572048220
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) rs1572038993
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter) rs757448865
NM_000071.3(CBS):c.362G>T (p.Arg121Leu) rs770095972
NM_000071.3(CBS):c.667-14_667-7del rs764160782
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro) rs754806883
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs) rs1064793397
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs) rs769945146
NM_000080.4(CHRNE):c.1429del (p.Ala477fs) rs1396286715
NM_000080.4(CHRNE):c.235-2A>G rs1597622118
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter) rs773929089
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter) rs2144576822
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg) rs587779696
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu) rs587779620
NM_000091.5(COL4A3):c.1114+1G>A rs1286895614
NM_000091.5(COL4A3):c.1262del (p.Gly421fs) rs2125972772
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu) rs2125981235
NM_000091.5(COL4A3):c.1407del (p.Gly470fs) rs766025194
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu) rs2125982395
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) rs779575469
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu) rs2106132144
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.5(COL4A3):c.234+1G>A rs1240838887
NM_000091.5(COL4A3):c.2621del (p.Gly874fs) rs759043857
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs) rs1064796094
NM_000091.5(COL4A3):c.3070+1G>A rs2106206598
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val) rs2072649241
NM_000091.5(COL4A3):c.3337+1del rs1350835100
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser) rs774583962
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg) rs1559913871
NM_000091.5(COL4A3):c.388-1G>T rs1553750900
NM_000091.5(COL4A3):c.388-2A>G rs2069361375
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser) rs759739044
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val) rs2069900248
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser) rs2125932297
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu) rs1425230568
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp) rs1559872489
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.5(COL4A4):c.1476_1477del (p.Ala493fs) rs2150596830
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter) rs2150595867
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val) rs2150595484
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) rs2059360185
NM_000092.5(COL4A4):c.1696+1G>A rs954701825
NM_000092.5(COL4A4):c.1696+1G>T rs954701825
NM_000092.5(COL4A4):c.1697-1G>A rs1559569975
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.5(COL4A4):c.2545+2T>G rs1559515075
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs) rs1559508134
NM_000092.5(COL4A4):c.2969-1G>C rs1553639043
NM_000092.5(COL4A4):c.3214+1G>A rs747167770
NM_000092.5(COL4A4):c.3289+1G>C rs1973128133
NM_000092.5(COL4A4):c.3973+1G>T rs755478262
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs) rs2149722718
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs) rs2149721718
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs) rs2149720724
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg) rs2060994526
NM_000092.5(COL4A4):c.871-1G>C rs375450996
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter) rs1833258579
NM_000094.4(COL7A1):c.3636del (p.Phe1213fs) rs2107746826
NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg) rs1064797081
NM_000094.4(COL7A1):c.8304+1G>A rs759579761
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val) rs1590204913
NM_000102.4(CYP17A1):c.869del (p.Asn290fs) rs766331452
NM_000104.4(CYP1B1):c.1099dup (p.Asp367fs) rs2125314883
NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del) rs751768343
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000110.4(DPYD):c.2622+1G>A rs1057517095
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs) rs1554095374
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) rs786204675
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) rs770925947
NM_000126.4(ETFA):c.963+1del rs746488455
NM_000128.4(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000133.4(F9):c.1024A>G (p.Thr342Ala) rs1603267362
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs) rs2143393148
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.2001dup (p.Ser668fs) rs2143366568
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs) rs1588353886
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) rs2136049324
NM_000136.3(FANCC):c.460del (p.Val154fs) rs1825653076
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.996G>A (p.Gln332=) rs1825770865
NM_000137.4(FAH):c.2T>A (p.Met1Lys) rs1057516934
NM_000137.4(FAH):c.606+1G>A rs773450608
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser) rs363810
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000143.4(FH):c.739-2A>G rs1553341174
NM_000143.4(FH):c.904+1G>A rs1553341148
NM_000143.4(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000146.4(FTL):c.-149G>C rs398124638
NM_000146.4(FTL):c.-161C>T rs398124636
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter) rs2056081719
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1551+1G>C rs770780848
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn) rs1381005435
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.4G>T (p.Gly2Ter) rs1567825175
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) rs745620101
NM_000153.4(GALC):c.953C>G (p.Pro318Arg) rs387906954
NM_000154.2(GALK1):c.364del (p.Leu122fs) rs2061596711
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000156.6(GAMT):c.307del (p.Ala103fs) rs2082622867
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser) rs1553217294
NM_000159.4(GCDH):c.263G>A (p.Arg88His) rs1970568682
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu) rs566417795
NM_000159.4(GCDH):c.636-4_639del rs775103982
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000169.3(GLA):c.1068dup (p.Gln357fs) rs2147471075
NM_000169.3(GLA):c.486G>A (p.Trp162Ter) rs869312311
NM_000169.3(GLA):c.548G>A (p.Gly183Asp) rs398123212
NM_000169.3(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.3(GLA):c.730G>C (p.Asp244His) rs727503948
NM_000169.3(GLA):c.815A>G (p.Asn272Ser) rs28935495
NM_000169.3(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000170.3(GLDC):c.2315+2T>A rs1554643738
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter) rs1209943477
NM_000170.3(GLDC):c.2838+5G>A rs386833568
NM_000170.3(GLDC):c.334+1G>T rs978795483
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs) rs878853702
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs) rs1572746382
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer) rs2147768516
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000194.3(HPRT1):c.532+1_532+2del rs2124305218
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs) rs758028806
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr) rs780178733
NM_000199.5(SGSH):c.506+1G>A rs763063355
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter) rs2126178088
NM_000210.4(ITGA6):c.442C>T (p.Arg148Ter) rs754621187
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000213.5(ITGB4):c.4635_4636del (p.Arg1545fs) rs1178371226
NM_000213.5(ITGB4):c.5091del (p.Glu1698fs) rs1157557804
NM_000213.5(ITGB4):c.5218+2T>C rs780675808
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) rs397508134
NM_000228.3(LAMB3):c.1288+1G>T rs1186161867
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000237.3(LPL):c.688del (p.Val230fs) rs2128838185
NM_000243.3(MEFV):c.1597_1598dup (p.Asp533fs) rs1179528365
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter) rs550890395
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.589-1G>A rs587779027
NM_000249.4(MLH1):c.589-1G>T rs587779027
NM_000249.4(MLH1):c.816del (p.Arg273fs) rs2125837110
NM_000251.3(MSH2):c.1276+1G>T rs267607950
NM_000251.3(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn) rs63750597
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) rs1476515561
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro) rs1767556193
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del) rs1767553642
NM_000255.4(MMUT):c.1445-2A>G rs398123276
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000255.4(MMUT):c.29del (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) rs200908035
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs) rs727503192
NM_000256.3(MYBPC3):c.407-1G>A rs185449721
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) rs730880684
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) rs782281371
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) rs779423223
NM_000262.3(NAGA):c.759+1_759+8del rs768761898
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs) rs2092905845
NM_000271.5(NPC1):c.2179del (p.Val727fs) rs2145394955
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000274.4(OAT):c.824G>A (p.Trp275Ter) rs267606924
NM_000274.4(OAT):c.97dup (p.Thr33fs) rs1375779674
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000276.4(OCRL):c.1244+1G>A rs1936163310
NM_000276.4(OCRL):c.953G>A (p.Arg318His) rs2124405779
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.712A>G (p.Thr238Ala) rs199475577
NM_000277.3(PAH):c.806T>A (p.Ile269Asn) rs199475644
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup) rs387906530
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu) rs1554856032
NM_000278.5(PAX2):c.483del (p.Gly162fs) rs2133894273
NM_000278.5(PAX2):c.791del (p.Gln264fs) rs2133950639
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs) rs1595236063
NM_000282.4(PCCA):c.1716dup (p.Val573fs) rs2152811869
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs) rs764325655
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.2241-2A>G rs1560626499
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000301.5(PLG):c.2019-1G>A rs2115181746
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs) rs2060686245
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter) rs148759949
NM_000303.3(PMM2):c.72del (p.Thr25fs) rs2060617981
NM_000310.4(PPT1):c.6del (p.Ser3fs) rs1570476221
NM_000312.4(PROC):c.303C>A (p.Cys101Ter) rs764808999
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu) rs137852709
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs) rs1447936042
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs) rs767801148
NM_000341.4(SLC3A1):c.1617+1dup rs2104385579
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter) rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr) rs2047328405
NM_000349.3(STAR):c.178+1G>C rs1554503011
NM_000349.3(STAR):c.811del (p.Leu271fs) rs1350908961
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer) rs1659427600
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000352.6(ABCC8):c.1647del (p.Ile550fs) rs2133554613
NM_000352.6(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
NM_000359.3(TGM1):c.2226-2A>G rs752349623
NM_000360.4(TH):c.312+1G>A rs1554923802
NM_000368.5(TSC1):c.846del (p.Ala283fs) rs1846010451
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) rs761918916
NM_000369.5(TSHR):c.418del (p.Met140fs) rs1085307573
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000372.5(TYR):c.1392dup (p.Lys465Ter) rs1555100853
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000384.3(APOB):c.537+1G>T rs2103384749
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs) rs1215189537
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000388.4(CASR):c.2506G>T (p.Val836Leu) rs2107650629
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys) rs2074624616
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) rs375958814
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs) rs1057517045
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000422.3(KRT17):c.281G>A (p.Arg94His) rs28928897
NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del) rs121912478
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) rs1480934961
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000428.3(LTBP2):c.2389-2A>G rs1327636983
NM_000431.4(MVK):c.943_944del (p.Leu315fs) rs776735249
NM_000432.4(MYL2):c.376C>T (p.Gln126Ter) rs1064796377
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) rs751458617
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000436.4(OXCT1):c.278+1G>A rs2112471375
NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter) rs121918578
NM_000440.3(PDE6A):c.999-2A>G rs1753232409
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.1708-1G>T rs759414956
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys) rs749027430
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs) rs2147473703
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) rs2147553451
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) rs111033541
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.357+1G>T rs866144313
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.3622del (p.Arg1208fs) rs1791174009
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs) rs1553414600
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs) rs1344601362
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) rs1057517173
NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala) rs2148195004
NM_000478.6(ALPL):c.203C>T (p.Thr68Met) rs1644478533
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter) rs2148152544
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000478.6(ALPL):c.649-1G>A rs2148171286
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.886C>T (p.Arg296Cys) rs1056820947
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs) rs386833692
NM_000481.4(AMT):c.987del (p.Met330fs) rs1278265933
NM_000485.3(APRT):c.188G>A (p.Gly63Asp) rs1909091672
NM_000485.3(APRT):c.280_286del (p.Gly94fs) rs776240467
NM_000485.3(APRT):c.439C>T (p.Gln147Ter) rs745872435
NM_000486.6(AQP2):c.127C>T (p.Gln43Ter) rs1481158831
NM_000486.6(AQP2):c.502G>A (p.Val168Met)
NM_000486.6(AQP2):c.97_119del (p.Asn33fs) rs772201159
NM_000487.6(ARSA):c.225-2A>G rs1555901083
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp) rs74315463
NM_000487.6(ARSA):c.607T>C (p.Tyr203His) rs2082680103
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys) rs28929469
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs) rs2130266157
NM_000497.4(CYP11B1):c.1398+4A>G rs1586557065
NM_000497.4(CYP11B1):c.726del (p.Ser243fs) rs1327055239
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) rs199621188
NM_000501.4(ELN):c.166del (p.Leu56fs) rs2131266202
NM_000503.6(EYA1):c.1597+1G>A rs1563630117
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) rs121909613
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.899-2A>C rs1165218506
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) rs1555472553
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) rs775920504
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) rs879254630
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000531.6(OTC):c.589G>A (p.Gly197Arg) rs72556301
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.538-2A>C rs758304323
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000537.4(REN):c.36GCT[3] (p.Leu16del) rs1571652012
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7836-1G>A rs1568507354
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs) rs1600842678
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000548.5(TSC2):c.138+5G>A rs45481400
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
NM_000548.5(TSC2):c.2640-2A>G rs137854380
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter) rs1060499676
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro) rs2151631825
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) rs61750083
NM_000553.6(WRN):c.1898+2T>G rs772319506
NM_000553.6(WRN):c.3244del (p.Val1082fs) rs745905108
NM_000553.6(WRN):c.3309+1G>T rs1281075870
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) rs1858937359
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs) rs1652003965
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.454G>T (p.Glu152Ter) rs1650125542
NM_000642.3(AGL):c.460+1G>A rs930434905
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_000685.5(AGTR1):c.599dup (p.Asn200fs) rs1559934279
NM_000743.5(CHRNA3):c.1099C>T (p.Gln367Ter) rs2141325372
NM_000760.4(CSF3R):c.843+2T>C rs1650834071
NM_000789.4(ACE):c.3521del (p.Gly1174fs) rs754265941
NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del) rs900084108
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del) rs983649759
NM_000790.4(DDC):c.316del rs1364054304
NM_001005242.3(PKP2):c.2168-1G>A rs1060501184
NM_001005498.4(RHBDF2):c.479C>T (p.Pro160Leu) rs387907130
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg) rs1555446411
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys) rs2151698069
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.11537+2T>A rs2151697557
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro) rs2151695909
NM_001009944.3(PKD1):c.12004-2A>C rs2091475604
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr) rs2092660647
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs) rs2151820655
NM_001009944.3(PKD1):c.1722+2T>C rs886041836
NM_001009944.3(PKD1):c.2097+1G>A rs2151816064
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter) rs2151812964
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del) rs2151806438
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.359+2T>G rs2092683440
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) rs1596557065
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg) rs2151824152
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.8016+2T>C rs1596536505
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer) rs2151756041
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg) rs2151750082
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9924-1G>C rs2151738493
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.230del (p.Lys77fs) rs770835633
NM_001018115.3(FANCD2):c.2605+2dup rs2125048104
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter) rs762724830
NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs) rs2124975164
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.64+2T>G rs2124961184
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs) rs2086865775
NM_001018115.3(FANCD2):c.92del (p.Lys31fs) rs1378830983
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter) rs752655158
NM_001038.6(SCNN1A):c.1439+1G>A rs1369791519
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter) rs137852634
NM_001038.6(SCNN1A):c.69del (p.Asn24fs) rs1565488675
NM_001041.4(SI):c.2654_2657del (p.Asp885fs) rs1221816681
NM_001041.4(SI):c.2737-1G>C rs1294620045
NM_001041.4(SI):c.2865C>A (p.Cys955Ter) rs2108202378
NM_001041.4(SI):c.635+2T>C rs1185991890
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.4070del (p.Phe1357fs) rs1555617354
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs) rs1567862349
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer) rs2151470108
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter) rs2069329774
NM_001042492.3(NF1):c.6819+3del rs2069728377
NM_001042492.3(NF1):c.7971-321C>G rs2070316606
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.648-1243G>T rs1554754182
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter) rs1443643776
NM_001080.3(ALDH5A1):c.665del (p.Gly222fs) rs1759308366
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer) rs2131697094
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001101.5(ACTB):c.158A>G (p.Tyr53Cys) rs2128241408
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001122681.2(SH3BP2):c.1252C>A (p.Pro418Thr) rs757336022
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu) rs13306668
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs) rs2144711571
NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly) rs28936387
NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter) rs2144723074
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu) rs121909380
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg) rs2144733006
NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp) rs773428143
NM_001126108.2(SLC12A3):c.505+5G>A rs751112698
NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs) rs770513014
NM_001126108.2(SLC12A3):c.626G>C (p.Arg209Pro) rs758035631
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter) rs751675724
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala) rs748920885
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs) rs868289171
NM_001142800.2(EYS):c.1961dup (p.Asn654fs) rs749103801
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001159699.2(FHL1):c.810dup (p.Cys271fs) rs2073964376
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164508.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs) rs747282057
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.4507-1G>A rs2154185810
NM_001164508.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter) rs2154134234
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser) rs2105889878
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745
NM_001170629.2(CHD8):c.3882+1G>A rs1555314736
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg) rs72653759
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs) rs1567465730
NM_001171.6(ABCC6):c.998+2_998+3del rs72664204
NM_001173990.3(TMEM216):c.230-2A>G rs1211592806
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs) rs757714479
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199799.2(ILDR1):c.745del (p.Ser249fs) rs571007078
NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter) rs2105080547
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter) rs1085307317
NM_001232.4(CASQ2):c.213del (p.Gln71fs) rs786205799
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.940-1G>T rs876657635
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) rs2103174031
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter) rs1366314967
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter) rs2151444797
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter) rs2154136345
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal) rs1689265228
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.106049del (p.Thr35350fs) rs1250336644
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) rs373040154
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter) rs1060500503
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs) rs2154184873
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs) rs1559561666
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.66161-1G>C rs1553627403
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs) rs1476017129
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.72613del (p.Val24205fs) rs1708996209
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs) rs751319893
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter) rs1707280155
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs) rs2154160971
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter) rs1553560951
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter) rs878854428
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter) rs1060500457
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys) rs1558225569
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) rs863225119
NM_001277115.2(DNAH11):c.12934-1G>T rs1554293484
NM_001277115.2(DNAH11):c.1710+1G>C rs1784326790
NM_001277115.2(DNAH11):c.3791_3792del (p.Arg1264fs) rs749926976
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001282225.2(ADA2):c.661_664del (p.Ala221fs) rs766602945
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs) rs1363658406
NM_001289104.2(PRKCSH):c.564_567del (p.Glu189fs) rs749223361
NM_001289104.2(PRKCSH):c.683+1G>A rs2144837651
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001303.4(COX10):c.413_414del (p.Lys138fs) rs2142182514
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001349206.2(LPIN1):c.942del (p.Pro315fs) rs1572770217
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter) rs120074162
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) rs397518419
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) rs759310292
NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter) rs2126177139
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys) rs766495775
NM_001360.3(DHCR7):c.963+2T>G rs1057517070
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln) rs181461079
NM_001364905.1(LRBA):c.1923_1924+11del rs755373718
NM_001365088.1(SLC12A6):c.316+1G>A rs1462170681
NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter) rs1057516456
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg) rs886038209
NM_001369.3(DNAH5):c.3598+1G>A rs2151920209
NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter) rs769582678
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs) rs1252973555
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter) rs2151814430
NM_001369.3(DNAH5):c.8360_8361insT (p.Lys2787fs) rs1757084798
NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser) rs77377082
NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter) rs771715883
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) rs1578794927
NM_001372.4(DNAH9):c.308del (p.Phe103fs) rs769795916
NM_001374353.1(GLI2):c.162_163del (p.Leu55fs) rs778975466
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val) rs1793524609
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001378454.1(ALMS1):c.10079-1G>C rs1361885101
NM_001378454.1(ALMS1):c.10384+1G>A rs766366221
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs) rs1247974278
NM_001378454.1(ALMS1):c.12299-1G>A rs1313101326
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter) rs1347176614
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs) rs765764128
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs) rs2104060044
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs) rs1558648759
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs) rs868776324
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter) rs2103780557
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter) rs1208636696
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.8117_8118delinsG (p.Glu2706fs) rs1182262187
NM_001378454.1(ALMS1):c.9782-1G>A rs1673992163
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter) rs754690894
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs) rs769407804
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) rs2133817680
NM_001384140.1(PCDH15):c.4367+1G>A rs1057516613
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter) rs2037495535
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs) rs776345911
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs) rs2150128669
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu) rs141153181
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs) rs777045246
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer) rs962476553
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs) rs747815682
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs) rs1779035528
NM_001386135.1(AFF3):c.698C>T (p.Ala233Val) rs2104734977
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001399.5(EDA):c.1093G>A (p.Val365Met) rs2147519270
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter) rs886037830
NM_001458.5(FLNC):c.3193-2A>G rs749889670
NM_001609.4(ACADSB):c.653dup (p.Val219fs) rs755014798
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val) rs398122973
NM_001673.5(ASNS):c.1320+1G>C rs1791277284
NM_001692.4(ATP6V1B1):c.1004del (p.Val335fs) rs1680634325
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs) rs1553416787
NM_001692.4(ATP6V1B1):c.273+2T>A rs1680488861
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs) rs1679840658
NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs) rs1753477155
NM_001737.5(C9):c.1184_1185del (p.Ser395fs) rs752437276
NM_001737.5(C9):c.162C>A (p.Cys54Ter) rs34000044
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) rs144716013
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) rs1201247953
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys) rs763199410
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly) rs201716417
NM_001875.5(CPS1):c.3336+1G>A rs1700437565
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter) rs2105908864
NM_001943.5(DSG2):c.1423+1G>T rs1257877047
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.2257del (p.Ala753fs) rs1567933176
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_001943.5(DSG2):c.523+1_523+2del rs1598810829
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001953.5(TYMP):c.214+1G>T rs1200609783
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter) rs1479002757
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn) rs267607222
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp) rs141178995
NM_002437.5(MPV17):c.375G>A (p.Arg125=) rs1064793178
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) rs2129744741
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
NM_002576.5(PAK1):c.428T>C (p.Met143Thr) rs1949512290
NM_002585.4(PBX1):c.265+1G>A rs2101688490
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) rs2038154558
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002878.4(RAD51D):c.623dup (p.Thr209fs) rs1555567610
NM_002887.4(RARS1):c.2T>C (p.Met1Thr) rs769713780
NM_003002.4(SDHD):c.315-1G>A rs1555187566
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del) rs386134215
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.497+2T>A rs1752229268
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs) rs386134209
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln) rs281875188
NM_003114.5(SPAG1):c.1282_1294del (p.Ala428fs) rs973819096
NM_003114.5(SPAG1):c.1285_1294dup (p.Ala432fs) rs918324226
NM_003172.4(SURF1):c.808_822dup (p.Glu270_Tyr274dup) rs782788600
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) rs121912650
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del) rs199474801
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp) rs1449715458
NM_003361.4(UMOD):c.272_274del (p.Ser91del) rs1965755740
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg) rs121917769
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly) rs1567310019
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_003401.5(XRCC4):c.265del (p.Ser89fs) rs772562216
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs) rs1573613529
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_003640.5(ELP1):c.1461-1G>T rs539544212
NM_003640.5(ELP1):c.1854+1G>A rs1554696934
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs) rs1341613149
NM_003640.5(ELP1):c.304-2A>G rs757972943
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs) rs769748960
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter) rs1827767235
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs) rs1446325480
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_003647.3(DGKE):c.1068_1071del (p.Asn356fs) rs764747885
NM_003647.3(DGKE):c.1442dup (p.Val482fs) rs1567825026
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter) rs1746480237
NM_003742.4(ABCB11):c.150+3A>C rs387906354
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs) rs1692870573
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys) rs1559183717
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter) rs549450795
NM_003982.4(SLC7A7):c.106_108del (p.Glu36del) rs386833796
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs) rs1290445670
NM_003982.4(SLC7A7):c.770+1del rs2139394672
NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter) rs2138663895
NM_003982.4(SLC7A7):c.894+1G>T rs386833827
NM_004006.3(DMD):c.1375G>T (p.Glu459Ter) rs2149350253
NM_004048.4(B2M):c.67+1G>T rs863225287
NM_004168.4(SDHA):c.1579del (p.Arg527fs) rs1579437839
NM_004168.4(SDHA):c.1663+1G>A rs766667009
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.484del (p.Arg162fs) rs1734988578
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.762_770+17del rs1041809852
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del) rs766312203
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs) rs1586824938
NM_004268.5(MED17):c.1112T>C (p.Leu371Pro) rs267607232
NM_004268.5(MED17):c.1299_1302del (p.Ala435fs) rs763249105
NM_004268.5(MED17):c.1360C>T (p.Arg454Ter) rs776884086
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter) rs368234110
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) rs756385625
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) rs1767310072
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe) rs2151316542
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004415.4(DSP):c.170+1G>A rs1309931610
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys) rs796051959
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004525.3(LRP2):c.11323C>T (p.Arg3775Ter) rs372938477
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs) rs80338754
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter) rs1358532875
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) rs398122797
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp) rs2118683688
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter) rs1440010564
NM_004589.4(SCO1):c.261del (p.Ser88fs) rs770131276
NM_004589.4(SCO1):c.364_364+1del rs587776629
NM_004589.4(SCO1):c.521C>T (p.Pro174Leu) rs104894630
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter) rs753535989
NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter) rs1057516776
NM_004646.4(NPHS1):c.1745del (p.Lys582fs) rs1057517021
NM_004646.4(NPHS1):c.2927+2T>A rs1973023048
NM_004646.4(NPHS1):c.2989_2990dup (p.Phe998fs) rs2146816256
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter) rs767887213
NM_004646.4(NPHS1):c.621del (p.Ser208fs) rs2146828521
NM_004646.4(NPHS1):c.671dup (p.Glu225fs) rs753394912
NM_004820.5(CYP7B1):c.1286dup (p.Lys430fs) rs1060502224
NM_004836.7(EIF2AK3):c.3051dup (p.Leu1018fs) rs2104387177
NM_004937.3(CTNS):c.682-1G>T rs1057516771
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu) rs1984249721
NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys) rs2043443851
NM_005097.4(LGI1):c.1580_1581del (p.His527fs) rs1364913665
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005220.3(DLX3):c.574del (p.Glu192fs) rs1057518764
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005422.4(TECTA):c.102del (p.Asn34fs) rs2135050168
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter) rs267607468
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys) rs60554162
NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys) rs267607473
NM_005557.4(KRT16):c.362T>C (p.Met121Thr) rs28928894
NM_005557.4(KRT16):c.371T>A (p.Leu124His) rs58293603
NM_005562.3(LAMC2):c.640+1G>A rs1183519794
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs) rs387906518
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs) rs1131691331
NM_005687.5(FARSB):c.848+1G>A rs777071414
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) rs764893806
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs) rs587781327
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter) rs749466673
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter) rs775069541
NM_005732.4(RAD50):c.3612_3618+5del rs995265408
NM_005857.5(ZMPSTE24):c.709G>T (p.Glu237Ter) rs281875370
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter) rs587777672
NM_005908.4(MANBA):c.549+1G>A rs1334537145
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) rs777904670
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer) rs1560419631
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) rs764993824
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) rs1942168488
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1459del (p.Trp487fs) rs2134455711
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del) rs780311417
NM_006059.4(LAMC3):c.809+2_809+8del rs775851709
NM_006059.4(LAMC3):c.903_904del (p.Cys301_Glu302delinsTer) rs761516738
NM_006073.4(TRDN):c.1233_1234dup (p.Lys412fs) rs778198100
NM_006073.4(TRDN):c.391+1G>A rs2114436209
NM_006073.4(TRDN):c.531del (p.Glu178fs) rs1432170970
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe) rs1555171247
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_006348.5(COG5):c.2T>G (p.Met1Arg) rs375702393
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro) rs121434236
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs) rs2147833877
NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer) rs1253995767
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp) rs104893723
NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys) rs1577432872
NM_006623.4(PHGDH):c.1078+1G>A rs1224279673
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter) rs964673995
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006996.3(SLC19A2):c.807+2T>G rs1234256852
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007214.5(SEC63):c.1188_1191dup (p.Val398fs) rs1787039042
NM_007214.5(SEC63):c.1605dup (p.Pro536fs) rs752868449
NM_007214.5(SEC63):c.1864C>T (p.Arg622Ter) rs2114403750
NM_007214.5(SEC63):c.1895C>A (p.Ser632Ter) rs768615942
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter) rs982113263
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter) rs769284314
NM_012144.4(DNAI1):c.817-2A>G rs2132068900
NM_012203.2(GRHPR):c.-4_-3delinsAT rs796052077
NM_012203.2(GRHPR):c.154del (p.Ala52fs) rs751101495
NM_012203.2(GRHPR):c.214+2T>G rs1057517398
NM_012203.2(GRHPR):c.597del (p.Phe199fs) rs1057516292
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs) rs1564217246
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
NM_012213.3(MLYCD):c.1A>T (p.Met1Leu) rs1179555424
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012452.3(TNFRSF13B):c.61+1G>A rs1016142312
NM_013328.4(PYCR2):c.309del (p.Val104fs) rs2102672892
NM_013328.4(PYCR2):c.356G>A (p.Arg119His) rs149587849
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_014049.5(ACAD9):c.15_40del (p.Leu6fs) rs746312225
NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser) rs863224845
NM_014140.4(SMARCAL1):c.1483C>T (p.Gln495Ter) rs1553526228
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter) rs1694125419
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp) rs1313658611
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014244.5(ADAMTS2):c.102_123dup (p.Ala42fs) rs1757906798
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys) rs973986984
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg) rs202247805
NM_014270.5(SLC7A9):c.225C>T (p.Leu75=) rs753121162
NM_014270.5(SLC7A9):c.749+1G>C rs1060499787
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter) rs2146021370
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs) rs1555249648
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs) rs777723411
NM_014425.5(INVS):c.2786+2T>C rs1322951938
NM_014425.5(INVS):c.497_512dup (p.His171fs) rs779545419
NM_014491.4(FOXP2):c.1426C>T (p.Arg476Ter) rs1178491246
NM_014585.6(SLC40A1):c.470A>G (p.Asp157Gly) rs104893663
NM_014625.4(NPHS2):c.738+1G>A rs1673954981
NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys) rs1673254835
NM_014625.4(NPHS2):c.95_96insTA (p.Gly33fs) rs1057516880
NM_014639.4(SKIC3):c.1757+1G>A rs570910902
NM_014714.4(IFT140):c.1359_1359+3delinsAC rs2141816540
NM_014714.4(IFT140):c.2068-2A>G rs1489989834
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs) rs1415763185
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) rs1471379682
NM_014714.4(IFT140):c.2655del (p.Trp885fs) rs762111572
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer) rs2141179932
NM_014714.4(IFT140):c.2948del (p.Asp983fs) rs2141172226
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs) rs765669703
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp) rs1553319093
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_014956.5(CEP164):c.3749-2A>G rs1482717760
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs) rs756288878
NM_014967.5(FAN1):c.332del (p.Pro111fs) rs2140895653
NM_014967.5(FAN1):c.922_923del (p.Val308fs) rs774499986
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs) rs1553178047
NM_015102.5(NPHP4):c.2007del (p.Phe670fs) rs1235304713
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs) rs1168286961
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs) rs1557616007
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs) rs762371581
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs) rs781558715
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter) rs1553280067
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs) rs749987648
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) rs1966902456
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs) rs1966218490
NM_015272.5(RPGRIP1L):c.2958+1G>T rs2151056579
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) rs1555912897
NM_015346.4(ZFYVE26):c.5321-2A>G rs1555395560
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_015627.3(LDLRAP1):c.112_113del (p.Thr38fs) rs763778803
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs) rs1201229554
NM_015629.4(PRPF31):c.239-1G>T rs2073798309
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer) rs553175533
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696
NM_015713.5(RRM2B):c.455+1G>A rs2132555188
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015909.4(NBAS):c.603_605del (p.Leu202del) rs796065038
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter) rs2105500878
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer) rs1160669103
NM_016222.4(DDX41):c.305_306del (p.Lys102fs) rs760059747
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs) rs2142363190
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro) rs199476398
NM_016604.4(KDM3B):c.2693T>C (p.Phe898Ser) rs1762477174
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) rs267607036
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter) rs1309003036
NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn) rs199469631
NM_017649.5(CNNM2):c.1804C>T (p.Arg602Ter) rs2134338484
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs) rs1057516903
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) rs1377452635
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017802.4(DNAAF5):c.2108_2114delinsCCACCCTGGGT (p.Met703fs) rs1554255966
NM_017802.4(DNAAF5):c.926G>A (p.Trp309Ter) rs1489856215
NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs) rs769890347
NM_017947.4(MOCOS):c.1088_1089del (p.Leu363fs) rs761752580
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter) rs1568667609
NM_018006.5(TRMU):c.1019-1G>A rs773484808
NM_018006.5(TRMU):c.333dup (p.His112fs) rs756600903
NM_018006.5(TRMU):c.356-2_356-1del rs2147053913
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter) rs769668643
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_018105.3(THAP1):c.86G>C (p.Arg29Pro) rs767952378
NM_018122.5(DARS2):c.128-1G>T rs267598175
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.9324del (p.Leu3109fs) rs1163303148
NM_018417.6(ADCY10):c.2215G>T (p.Glu739Ter) rs1407377211
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs) rs1436269510
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs) rs1271803838
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) rs1014959895
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr) rs1596261268
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs) rs1714102462
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.90-1G>C rs1718608300
NM_020320.5(RARS2):c.1554del (p.Arg519fs) rs754610170
NM_020320.5(RARS2):c.1A>G (p.Met1Val) rs774923951
NM_020320.5(RARS2):c.2T>G (p.Met1Arg) rs199862050
NM_020320.5(RARS2):c.772-1G>A rs2128057942
NM_020320.5(RARS2):c.928dup (p.Ile310fs) rs1360282089
NM_020458.4(TTC7A):c.192del (p.Phe64fs) rs1476031758
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter) rs863225293
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) rs1064794533
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter) rs2151665554
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) rs776817952
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) rs1057519289
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) rs886043524
NM_022132.5(MCCC2):c.689del (p.Asn230fs) rs2112412398
NM_022445.4(TPK1):c.664G>C (p.Asp222His) rs368458768
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs) rs2149843640
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs) rs1581535570
NM_022489.4(INF2):c.1735+1G>A rs2140670271
NM_022489.4(INF2):c.652C>T (p.Arg218Trp) rs267606878
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.3(FGFR1):c.448+1G>A rs376416531
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly) rs727505369
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024079.5(ALG8):c.761dup (p.Pro255fs) rs968741434
NM_024079.5(ALG8):c.802del (p.Arg268fs) rs2136899636
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp) rs121908294
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter) rs1599939853
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter) rs1555738753
NM_024422.6(DSC2):c.2250+2T>C rs1064793731
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.880del (p.Leu294fs) rs1451144520
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) rs1603379779
NM_024570.4(RNASEH2B):c.136+1del rs75186889
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) rs863224781
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs) rs786205124
NM_024598.4(USB1):c.63del (p.Met22fs) rs747958554
NM_024649.5(BBS1):c.1608+1G>A rs1856758582
NM_024649.5(BBS1):c.319dup (p.Ala107fs) rs1856010064
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) rs1555460334
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024685.4(BBS10):c.1122dup (p.Ile375fs) rs753604828
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter) rs1476664656
NM_024740.2(ALG9):c.701+1G>A rs2137107185
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter) rs1685080096
NM_024996.7(GFM1):c.273del (p.Met92fs) rs863224033
NM_024996.7(GFM1):c.690_693del rs778902849
NM_025074.7(FRAS1):c.1931del (p.Gly644fs) rs794727195
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) rs1733155852
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.9123_9124del (p.Thr3041_Ile3042insTer) rs1263546070
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.961+2T>C rs1728876351
NM_025137.4(SPG11):c.5866_5866+4del rs771346977
NM_025137.4(SPG11):c.6754+2_6754+3dup rs759090170
NM_025216.3(WNT10A):c.694del (p.Arg232fs) rs1575233692
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter) rs773036759
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_030943.4(AMN):c.760+1G>A rs1555381485
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs) rs750146549
NM_031885.5(BBS2):c.472del rs587777826
NM_031885.5(BBS2):c.774del (p.Asn258fs) rs777218224
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032229.3(SLITRK6):c.890C>A (p.Ser297Ter) rs587777070
NM_032383.5(HPS3):c.660_661del (p.Arg220fs) rs1363164647
NM_032520.5(GNPTG):c.234-1G>A rs112850896
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032578.4(MYPN):c.295C>T (p.Arg99Ter) rs756823228
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe) rs142164373
NM_032888.4(COL27A1):c.1216C>T (p.Gln406Ter) rs1849088219
NM_032888.4(COL27A1):c.62+1del rs756877794
NM_033028.5(BBS4):c.24+1G>T rs759520211
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer) rs1233449433
NM_033163.5(FGF8):c.356C>T (p.Thr119Met) rs876661329
NM_033305.3(VPS13A):c.2500del (p.Val834fs) rs2131325474
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs) rs2131427489
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter) rs756865623
NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala) rs104886101
NM_033380.3(COL4A5):c.1339+1G>A rs878853114
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg) rs2147809070
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp) rs2147810410
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val) rs104886143
NM_033380.3(COL4A5):c.2042-2A>G rs2066636714
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu) rs878853089
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg) rs2147865597
NM_033380.3(COL4A5):c.3016+2T>C rs2147869403
NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val) rs1603298993
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) rs1603306716
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg) rs2147935344
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys) rs1569505374
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg) rs2147953060
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs) rs2147956419
NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg) rs1569488426
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser) rs2147959471
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs) rs1569507535
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp) rs281874735
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp) rs2147991184
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser) rs104886279
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe) rs104886287
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu) rs281874747
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser) rs104886424
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr) rs2148003771
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg) rs1556404027
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg) rs1569490379
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg) rs267606310
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala) rs1569490592
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu) rs2147776175
NM_033380.3(COL4A5):c.891+1G>T rs104886451
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser) rs2147777425
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp) rs2147657533
NM_033380.3(COL4A5):c.935del (p.Pro312fs) rs1556407078
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_052813.5(CARD9):c.1351_1354del (p.Asp451fs) rs746470735
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842
NM_052867.4(NALCN):c.4755+1G>T rs1158141270
NM_052989.3(IFT122):c.273-281_273-271del rs1559868433
NM_057176.3(BSND):c.272+1G>T rs1007109925
NM_058216.3(RAD51C):c.146-2A>G rs1555593457
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer) rs1597834560
NM_130810.4(DNAAF4):c.523del (p.Ile175fs) rs751610886
NM_130849.4(SLC39A4):c.1465_1474+4del rs782563835
NM_130849.4(SLC39A4):c.475-2A>G rs1554873649
NM_130849.4(SLC39A4):c.862del (p.Gly287_Val288insTer) rs2130799141
NM_130849.4(SLC39A4):c.977-1G>A rs2130798128
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.603+1G>A rs2135722313
NM_138413.4(HOGA1):c.834+2T>C rs947352856
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) rs398124480
NM_138694.4(PKHD1):c.2592+1G>C rs758812102
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs) rs2128152615
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) rs1801882752
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter) rs1783006864
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg) rs201881567
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly) rs200432861
NM_138694.4(PKHD1):c.8950+1G>T rs1351918391
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_144585.4(SLC22A12):c.507-8_511del rs1404199426
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs) rs1131690841
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_145038.5(DRC1):c.109dup (p.Gln37fs) rs750136163
NM_145207.3(AFG2A):c.1069G>T (p.Gly357Ter) rs755744719
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly) rs768528444
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_152384.3(BBS5):c.303dup (p.Asn102Ter) rs1683515617
NM_152443.3(RDH12):c.659-2A>T rs2038231425
NM_152515.5(CKAP2L):c.1092_1093del (p.Gln364fs) rs755184431
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs) rs2150736865
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs) rs1553941391
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) rs766741204
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs) rs2150737598
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.869_873del (p.Val290fs) rs1283655166
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val) rs775281384
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs) rs2102898301
NM_170707.4(LMNA):c.822del (p.Arg275fs) rs2102883169
NM_170784.3(MKKS):c.63_64del (p.Arg21fs) rs754066841
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp) rs201542666
NM_173086.5(KRT6C):c.1414G>A (p.Glu472Lys) rs587777292
NM_173477.5(USH1G):c.1004dup (p.Leu336fs) rs1359109336
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter) rs928656346
NM_173560.4(RFX6):c.649T>C (p.Ser217Pro) rs267607012
NM_173689.7(CRB2):c.315C>A (p.Cys105Ter) rs149815227
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174916.3(UBR1):c.529-13G>A rs1265375100
NM_175914.5(HNF4A):c.427-1G>A rs1568731279
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile) rs966267709
NM_177965.4(CFAP418):c.177del (p.Glu60fs) rs1811931460
NM_178170.3(NEK8):c.1359_1360del (p.His454fs) rs1282492342
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs) rs745495583
NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs) rs1717695462
NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter) rs772219642
NM_181426.2(CCDC39):c.610_613del rs1415346246
NM_181507.2(HPS5):c.2077del (p.Arg693fs) rs746844529
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) rs770804941
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_194248.3(OTOF):c.1172del (p.Lys391fs) rs483353050
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_198173.3(GRHL3):c.1171C>T (p.Arg391Cys) rs879255245
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp) rs879255643
NM_198334.3(GANAB):c.490C>T (p.Arg164Ter) rs754785664
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1468del (p.Tyr490fs) rs1454474832
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter) rs2128667543
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs) rs1266192229
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter) rs755348845
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs) rs751935649
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) rs62635659
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201525.4(ADGRG1):c.215del (p.Pro72fs) rs2044043566
NM_203290.4(POLR1C):c.232C>T (p.Arg78Ter) rs1793021342
NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu) rs863223276
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter) rs1447189148
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.15371del (p.Leu5124fs) rs1656163649
NM_206933.4(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter) rs1209837469
NM_206933.4(USH2A):c.6957+1G>C rs2102458321
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_207352.4(CYP4V2):c.176del (p.Leu59fs) rs1735999769
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) rs4774518
NM_213653.4(HJV):c.187C>T (p.Arg63Ter) rs1652592444
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-13_-2dup rs1554651400
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-24_-10dup rs727502776
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-26_-10dup rs1554651491
NR_003051.4(RMRP):n.129G>A rs74810894
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106

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