ClinVar Miner

List of variants reported by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 895
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe) rs146698690 0.00271
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro) rs199742668 0.00240
NM_005006.7(NDUFS1):c.-5+236T>C rs184505364 0.00195
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr) rs3212977 0.00150
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe) rs145496449 0.00143
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_198129.4(LAMA3):c.1283G>C (p.Cys428Ser) rs180795245 0.00092
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) rs144575803 0.00050
NM_000494.4(COL17A1):c.1013T>C (p.Leu338Ser) rs61731630 0.00046
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) rs145740834 0.00045
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu) rs143194967 0.00031
NM_003721.4(RFXANK):c.188-11C>T rs201545133 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu) rs143899993 0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys) rs376935647 0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met) rs180716474 0.00016
NM_001382347.1(MYO5A):c.3098T>G (p.Leu1033Trp) rs751411629 0.00016
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys) rs148089728 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg) rs374754187 0.00016
NM_032229.3(SLITRK6):c.1904G>A (p.Arg635His) rs79624852 0.00015
NM_000666.3(ACY1):c.575dup (p.Ser192fs) rs770702363 0.00014
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_017668.3(NDE1):c.214C>T (p.Arg72Cys) rs777008106 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_000093.5(COL5A1):c.2700+191C>T rs183885286 0.00011
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) rs200865845 0.00011
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_001162383.2(ARHGEF2):c.382G>A (p.Asp128Asn) rs1370253003 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly) rs138866758 0.00009
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys) rs372035044 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter) rs142375551 0.00008
NM_000265.7(NCF1):c.124C>T (p.Arg42Trp) rs782800778 0.00007
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548 0.00007
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_001205293.3(CACNA1E):c.6856C>T (p.Arg2286Trp) rs762766720 0.00006
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_004523.4(KIF11):c.980G>A (p.Arg327His) rs746977730 0.00006
NM_005535.3(IL12RB1):c.1791+2T>G rs554063682 0.00006
NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn) rs140985565 0.00006
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000218.3(KCNQ1):c.1514+3290A>G rs1048449968 0.00005
NM_001330574.2(ZNF711):c.326G>C (p.Gly109Ala) rs769223012 0.00005
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly) rs140059558 0.00005
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg) rs34575645 0.00005
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) rs767982852 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283 0.00004
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279 0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_004446.3(EPRS1):c.2513G>A (p.Arg838His) rs542576870 0.00004
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter) rs72553885 0.00004
NM_022124.6(CDH23):c.1450-10G>A rs751220612 0.00004
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) rs587783735 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_032040.5(CCDC8):c.963del (p.Ala323fs) rs746873023 0.00004
NM_138272.3(MPIG6B):c.248G>A (p.Arg83His) rs200855070 0.00004
NM_172369.5(C1QC):c.490G>A (p.Gly164Ser) rs752596663 0.00004
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000308.4(CTSA):c.601-2A>G rs778159802 0.00003
NM_000501.4(ELN):c.1357G>A (p.Gly453Arg) rs781802762 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_001009944.3(PKD1):c.12391G>T (p.Glu4131Ter) rs764447736 0.00003
NM_001014342.3(FLG2):c.632C>G (p.Ser211Ter) rs1050823116 0.00003
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His) rs376019368 0.00003
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys) rs372337277 0.00003
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser) rs368513591 0.00003
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr) rs150563256 0.00003
NM_001365999.1(SZT2):c.2929+15C>T rs1030508390 0.00003
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser) rs749985011 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_015836.4(WARS2):c.317C>T (p.Pro106Leu) rs753188889 0.00003
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771 0.00003
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000208.4(INSR):c.3529+5G>A rs764083259 0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln) rs146778113 0.00002
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter) rs747602915 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln) rs113994028 0.00002
NM_001194998.2(CEP152):c.2148-17G>A rs751691427 0.00002
NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln) rs542660333 0.00002
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) rs778114016 0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) rs775651976 0.00002
NM_004174.4(SLC9A3):c.932+1G>A rs144524702 0.00002
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) rs730882240 0.00002
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys) rs112817175 0.00002
NM_004595.5(SMS):c.799G>A (p.Gly267Arg) rs757074790 0.00002
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp) rs781491587 0.00002
NM_017909.4(RMND1):c.920A>G (p.Asn307Ser) rs746632175 0.00002
NM_017950.4(CCDC40):c.2832+360C>T rs1567813319 0.00002
NM_018943.3(TUBA8):c.728G>A (p.Arg243His) rs768178362 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000108.5(DLD):c.684+1G>T rs780025714 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) rs28938472 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780 0.00001
NM_000260.4(MYO7A):c.470+1G>A rs797044510 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000352.6(ABCC8):c.1882G>A (p.Glu628Lys) rs565662182 0.00001
NM_000384.3(APOB):c.13059C>A (p.Cys4353Ter) rs935792706 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys) rs1327401976 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys) rs758630897 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe) rs994299183 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 0.00001
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001267550.2(TTN):c.43033C>T (p.Pro14345Ser) rs1576701632 0.00001
NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile) rs1354476372 0.00001
NM_001290003.1(THPO):c.98C>T (p.Pro33Leu) rs1208732776 0.00001
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys) rs763041373 0.00001
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00001
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001379286.1(ZNF423):c.3274G>A (p.Val1092Ile) rs759221881 0.00001
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys) rs762796464 0.00001
NM_001457.4(FLNB):c.871G>A (p.Val291Met) rs751747906 0.00001
NM_001807.6(CEL):c.703C>T (p.Arg235Ter) rs778611627 0.00001
NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe) rs1877889898 0.00001
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg) rs757047420 0.00001
NM_001985.3(ETFB):c.58-57C>T rs766066977 0.00001
NM_002168.4(IDH2):c.1039G>A (p.Ala347Thr) rs767061831 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser) rs143337739 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_003235.5(TG):c.6725G>A (p.Arg2242His) rs2069566 0.00001
NM_003356.4(UCP3):c.365C>T (p.Ala122Val) rs773117397 0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) rs587784350 0.00001
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512 0.00001
NM_004064.5(CDKN1B):c.274C>T (p.Pro92Ser) rs868695692 0.00001
NM_004092.4(ECHS1):c.88+5G>A rs761464256 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr) rs540817676 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_005149.3(TBX19):c.377C>T (p.Pro126Leu) rs753455443 0.00001
NM_005149.3(TBX19):c.608C>T (p.Thr203Met) rs748717639 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005529.7(HSPG2):c.11671+1G>T rs1373848573 0.00001
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys) rs1333091798 0.00001
NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter) rs1297603674 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter) rs1131691593 0.00001
NM_006348.5(COG5):c.1535C>G (p.Ala512Gly) rs1037950511 0.00001
NM_006612.6(KIF1C):c.646C>T (p.Arg216Cys) rs1064796693 0.00001
NM_006929.5(SKIC2):c.1297C>T (p.Arg433Cys) rs750250320 0.00001
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) rs121918540 0.00001
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser) rs750972972 0.00001
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205 0.00001
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) rs764260054 0.00001
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu) rs1037774698 0.00001
NM_013382.7(POMT2):c.311A>T (p.Asp104Val) rs1891449262 0.00001
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) rs1114167292 0.00001
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) rs1023630527 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_016239.4(MYO15A):c.4429C>T (p.Arg1477Cys) rs774077101 0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
NM_016553.5(NUP62):c.548C>T (p.Thr183Met) rs756420654 0.00001
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_021008.4(DEAF1):c.776C>T (p.Ala259Val) rs1564949612 0.00001
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter) rs587777626 0.00001
NM_024101.7(MLPH):c.104G>A (p.Arg35Gln) rs786205551 0.00001
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter) rs777438557 0.00001
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) rs764053964 0.00001
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) rs774005569 0.00001
NM_031421.5(ODAD4):c.158G>A (p.Arg53His) rs782594989 0.00001
NM_032551.5(KISS1R):c.439C>T (p.Pro147Ser) rs61735615 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter) rs1295732689 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_153033.5(KCTD7):c.551G>A (p.Arg184His) rs747676224 0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_181776.3(SLC36A2):c.448G>A (p.Val150Met) rs766388628 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr) rs1326810030 0.00001
NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys) rs1229969030 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala) rs1597534120
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) rs727503788
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs) rs1591363795
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter) rs1249398093
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs) rs1593903422
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_000067.3(CA2):c.232+1G>A rs573750741
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000081.4(LYST):c.3170del (p.Lys1057fs)
NM_000089.4(COL1A2):c.432+4_432+7del rs72656363
NM_000094.4(COL7A1):c.6026G>A (p.Gly2009Glu) rs1342925232
NM_000095.3(COMP):c.361_364dup (p.Gly122fs) rs1601059597
NM_000098.3(CPT2):c.416C>T (p.Pro139Leu) rs369475478
NM_000104.4(CYP1B1):c.975_978del (p.Asp326fs) rs1573274915
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter) rs121913032
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) rs2068606445
NM_000123.4(ERCC5):c.2427del (p.Asp809fs) rs777455688
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter) rs1475984278
NM_000127.3(EXT1):c.1469del (p.Leu490fs) rs886039356
NM_000132.4(F8):c.2044G>T (p.Val682Phe) rs1569559755
NM_000133.4(F9):c.855G>C (p.Glu285Asp) rs1603267310
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe) rs794728193
NM_000138.5(FBN1):c.5917+1G>T rs363808
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr) rs1598577393
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) rs1221156663
NM_000153.4(GALC):c.1886G>T (p.Trp629Leu) rs1566967736
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) rs111033741
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000168.6(GLI3):c.1527G>C (p.Glu509Asp) rs1583749201
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp) rs1587908683
NM_000174.5(GP9):c.404G>T (p.Cys135Phe) rs769561588
NM_000180.4(GUCY2D):c.2978del (p.Met993fs) rs1598151437
NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val) rs1309642469
NM_000212.3(ITGB3):c.727G>C (p.Asp243His) rs1598690937
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.586A>C (p.Lys196Gln) rs1589956747
NM_000222.3(KIT):c.2872A>G (p.Asn958Asp) rs1560426461
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000251.3(MSH2):c.619G>T (p.Ala207Ser) rs63750913
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000255.4(MMUT):c.785G>T (p.Ser262Ile) rs1767683356
NM_000257.4(MYH7):c.1858_1859del (p.Leu620fs) rs1566533919
NM_000257.4(MYH7):c.4622A>T (p.Gln1541Leu) rs587779389
NM_000260.4(MYO7A):c.133del rs1591224147
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000271.5(NPC1):c.2130+1G>A rs2058753286
NM_000275.2(OCA2):c.646+1823_807+678delinsAAA rs1555375711
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) rs1602226867
NM_000297.4(PKD2):c.111_117delinsGG (p.Ser39fs) rs1726227364
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) rs1553923513
NM_000312.4(PROC):c.1163C>T (p.Ala388Val) rs769277939
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000316.3(PTH1R):c.611T>A (p.Val204Glu) rs769180471
NM_000330.4(RS1):c.215A>G (p.Glu72Gly) rs1927823799
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp) rs888909415
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter) rs121909792
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.44G>A (p.Arg15His) rs179363876
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000404.4(GLB1):c.950G>A (p.Trp317Ter) rs1575451526
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.2054T>C (p.Leu685Pro) rs746641607
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000428.3(LTBP2):c.1934T>C (p.Leu645Pro) rs1566626728
NM_000436.4(OXCT1):c.370C>T (p.Arg124Ter) rs1579884900
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile) rs1585617108
NM_000486.6(AQP2):c.526-1G>T rs749468605
NM_000487.6(ARSA):c.1108-2A>G rs398123411
NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser) rs1177201180
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000493.4(COL10A1):c.1771T>G (p.Cys591Gly) rs111033546
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter) rs1554034434
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.2027del (p.Gly676fs) rs875989937
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000529.2(MC2R):c.459dup (p.Ile154fs) rs1555619430
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000535.7(PMS2):c.1145-31_1145-13del rs751973268
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000546.6(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_000551.4(VHL):c.508G>C (p.Val170Leu) rs1553620326
NM_000552.5(VWF):c.5520dup (p.Gly1841fs) rs1591858979
NM_000553.6(WRN):c.1822C>T (p.Gln608Ter) rs1813725009
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg) rs1592380743
NM_000642.3(AGL):c.113C>G (p.Thr38Ser) rs1557746521
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala) rs398123509
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) rs780950819
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu) rs1057520815
NM_000815.5(GABRD):c.470+1G>C rs1557445669
NM_000817.3(GAD1):c.1402T>G (p.Trp468Gly) rs1575446166
NM_000834.5(GRIN2B):c.1287C>A (p.Cys429Ter) rs747172511
NM_000834.5(GRIN2B):c.1820G>C (p.Trp607Ser) rs1591638805
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn) rs1591609136
NM_000875.5(IGF1R):c.2741G>A (p.Gly914Glu) rs1596457264
NM_000965.5(RARB):c.1180G>T (p.Glu394Ter) rs1575553528
NM_000975.5(RPL11):c.465_466del (p.His155fs) rs1644530053
NM_001003787.4(STRADA):c.1101-1G>C rs1598144913
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser) rs1596582702
NM_001009944.3(PKD1):c.7063A>C (p.Thr2355Pro) rs2092400099
NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg) rs1367567191
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1]) rs763199524
NM_001010874.5(TECRL):c.331+1G>A rs1057517699
NM_001012759.3(CTU2):c.873+5G>A rs1597431437
NM_001017420.3(ESCO2):c.116dup (p.Asn39fs) rs1585389705
NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe) rs1581259156
NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr) rs1582095105
NM_001029883.3(PCARE):c.1541del (p.Pro514fs) rs1667513233
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly) rs587777067
NM_001031725.6(DDX59):c.1648AAT[2] (p.Asn552del) rs1571603072
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001035256.2(POMC):c.297_298ins90 (p.?)
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro) rs773013563
NM_001039591.3(USP9X):c.2663T>G (p.Phe888Cys) rs1174582313
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter) rs1596891223
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs) rs1597716817
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs) rs1599879104
NM_001042646.3(TRAK1):c.1759dup (p.His587fs) rs1559390743
NM_001069.3(TUBB2A):c.1178C>T (p.Ala393Val) rs1581496351
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077418.3(TMEM231):c.526C>G (p.Leu176Val) rs775613602
NM_001079520.2(DACT1):c.868_869del (p.Trp290fs) rs1555329832
NM_001079668.3(NKX2-1):c.583C>T (p.Arg195Trp) rs1881114341
NM_001080467.3(MYO5B):c.1829C>A (p.Ser610Ter) rs753160864
NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter) rs762039116
NM_001080517.3(SETD5):c.1452dup (p.Pro485fs) rs1575453353
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) rs1569441509
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001082971.2(DDC):c.571-3C>G rs779659084
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter) rs727504175
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter) rs2093650935
NM_001098.3(ACO2):c.1285C>T (p.Arg429Trp) rs757438868
NM_001098511.3(KIF2A):c.283C>T (p.Arg95Ter) rs1580059038
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_001101.5(ACTB):c.209C>A (p.Pro70His) rs587779769
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys) rs1472549168
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001123385.2(BCOR):c.2449del (p.Thr817fs) rs1602148660
NM_001127644.2(GABRA1):c.1268C>T (p.Ser423Leu) rs1581221893
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436
NM_001134407.3(GRIN2A):c.2007+1del rs1596471698
NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys) rs1578557666
NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys) rs1598176834
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) rs1977170764
NM_001160148.2(DDHD1):c.2444G>A (p.Arg815Lys) rs147133475
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu) rs1357591960
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs) rs1566212378
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs) rs1592109970
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001165963.4(SCN1A):c.657A>C (p.Arg219Ser) rs727504143
NM_001170535.3(ATAD3A):c.283-60del rs1557458134
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe) rs1574568704
NM_001174089.2(SLC4A11):c.2018+1G>A rs2067654837
NM_001190274.2(FBXO11):c.1920+2T>A rs1572776344
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) rs1388811021
NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter) rs1744312712
NM_001205254.2(OCLN):c.546G>C (p.Leu182=) rs1580554633
NM_001206999.2(CIT):c.3350+5G>A rs1565958864
NM_001206999.2(CIT):c.4354A>C (p.Thr1452Pro) rs1593442207
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro) rs180177442
NM_001256317.3(TMPRSS3):c.1192-1G>C rs1601514990
NM_001257096.2(PAX1):c.1181C>T (p.Pro394Leu) rs767129610
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.28174+1G>T rs1577824925
NM_001267550.2(TTN):c.28462+1G>T rs2076520917
NM_001267550.2(TTN):c.55732+5G>C rs878854377
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs) rs1601419986
NM_001282531.3(ADNP):c.1265dup (p.Gln423fs) rs1600932676
NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer) rs1600930164
NM_001286577.2(C2CD3):c.195G>C (p.Trp65Cys) rs1590991247
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001318852.2(MAPK8IP3):c.3668A>G (p.Tyr1223Cys) rs1596818779
NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr) rs1603251548
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) rs886039809
NM_001348768.2(HECW2):c.4550G>A (p.Ser1517Asn) rs1353654549
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_001354930.2(RIPK1):c.954del (p.Met318fs) rs1561772403
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) rs1578999313
NM_001364905.1(LRBA):c.7850-1G>A rs1729842757
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs) rs1569288603
NM_001369.3(DNAH5):c.11028+2T>C rs773447251
NM_001369268.1(ACAN):c.5546G>A (p.Gly1849Asp) rs34124958
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) rs1050035768
NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs) rs1561540623
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter) rs1571242220
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) rs1289499829
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter) rs1554265316
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs) rs1583451146
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter) rs1554234402
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs) rs1583502875
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter) rs1451259945
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283
NM_001375380.1(EBF3):c.412-2A>T rs1859264278
NM_001375380.1(EBF3):c.428G>A (p.Gly143Asp) rs1589962586
NM_001376.5(DYNC1H1):c.11765C>G (p.Pro3922Arg) rs141696238
NM_001377299.1(NDUFS2):c.703-11T>G rs770054202
NM_001378183.1(PIEZO2):c.4244_4245del (p.Thr1415fs) rs1598431052
NM_001378183.1(PIEZO2):c.6055C>T (p.Arg2019Ter) rs764171255
NM_001378454.1(ALMS1):c.2728_2731del (p.His910fs) rs1558648189
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378778.1(MPDZ):c.1502dup (p.Leu501fs) rs1956840371
NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr) rs1554644827
NM_001378778.1(MPDZ):c.628C>T (p.Gln210Ter) rs372127610
NM_001378789.1(CERS3):c.530C>T (p.Ser177Phe) rs1178676096
NM_001379029.1(CERT1):c.1335del (p.Ala446fs) rs1561223965
NM_001379500.1(COL18A1):c.3826_3827del (p.Trp1276fs) rs1602667345
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro) rs730882250
NM_001384125.1(BLTP1):c.1183del (p.Ile395fs) rs1579165246
NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter) rs1943286459
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter) rs863225159
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_001386298.1(CIC):c.7506dup (p.Pro2503fs) rs1422380205
NM_001394062.1(MACF1):c.20105T>C (p.Leu6702Pro) rs1570118657
NM_001510.4(GRID2):c.910C>T (p.Arg304Ter) rs1579319300
NM_001625.4(AK2):c.545C>A (p.Ala182Asp) rs559947967
NM_001626.6(AKT2):c.49G>A (p.Glu17Lys) rs387906659
NM_001673.5(ASNS):c.1137+1G>A rs1791383191
NM_001673.5(ASNS):c.1160A>G (p.Glu387Gly) rs1584458744
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys) rs1166271142
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly) rs1597817636
NM_001807.6(CEL):c.1776dup (p.Val593fs) rs193922638
NM_001844.5(COL2A1):c.1187G>A (p.Gly396Asp) rs1592221192
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001849.4(COL6A2):c.2422+1G>A rs113828929
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile) rs1553631770
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter) rs886041281
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) rs765023287
NM_001955.5(EDN1):c.184G>C (p.Glu62Gln) rs1561693994
NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu) rs1592232580
NM_002055.5(GFAP):c.230A>G (p.Asn77Ser) rs57590980
NM_002181.4(IHH):c.352G>A (p.Val118Met) rs1454141074
NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla) rs1574689480
NM_002187.3(IL12B):c.320dup (p.Glu108fs) rs587776807
NM_002246.3(KCNK3):c.250_267dup (p.Phe84_Thr89dup) rs1558592501
NM_002354.3(EPCAM):c.499dup (p.Gln167fs) rs606231204
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) rs200938111
NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr) rs1566012539
NM_002470.4(MYH3):c.4405dup (p.Glu1469fs) rs1597482824
NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs) rs1567692384
NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter) rs879253889
NM_002547.3(OPHN1):c.1105-13_1109del rs2077502210
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter) rs387906726
NM_002641.4(PIGA):c.166C>G (p.Leu56Val) rs1602212318
NM_002662.5(PLD1):c.498del (p.Ser167fs) rs1719235551
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002880.4(RAF1):c.659_660del (p.Ser220fs) rs1575577384
NM_003038.5(SLC1A4):c.1357T>C (p.Trp453Arg) rs1572971860
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003051.4(SLC16A1):c.1079del (p.Ala360fs) rs1570619302
NM_003060.4(SLC22A5):c.1313G>A (p.Gly438Glu) rs1580894230
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr) rs1820558146
NM_003126.4(SPTA1):c.1619C>A (p.Thr540Asn) rs755070607
NM_003126.4(SPTA1):c.5263C>G (p.His1755Asp) rs377659326
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) rs201070350
NM_003394.4(WNT10B):c.338-1G>C rs1163162816
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003483.6(HMGA2):c.283-2A>G rs1592471112
NM_003506.4(FZD6):c.1393-2A>G rs1815013208
NM_003611.3(OFD1):c.2193del (p.Arg732fs) rs1602904530
NM_003632.3(CNTNAP1):c.1_1629-1del
NM_003718.5(CDK13):c.806del (p.Ser269fs) rs1583893433
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003721.4(RFXANK):c.271+1delinsTCAC rs2060611603
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.477C>A (p.Ser159Arg) rs368281475
NM_003721.4(RFXANK):c.713-1G>A rs2060720733
NM_003742.4(ABCB11):c.379del (p.Thr127fs) rs1558927163
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) rs367638648
NM_003978.5(PSTPIP1):c.355-4G>A rs1596111331
NM_003995.4(NPR2):c.1032T>G (p.Tyr344Ter) rs1588057922
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln) rs771373457
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu) rs771373457
NM_003995.4(NPR2):c.3059G>A (p.Arg1020Gln) rs770815149
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu) rs397514499
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_004214.5(FIBP):c.412-11C>G rs1591078042
NM_004273.5(CHST3):c.503T>G (p.Ile168Ser) rs1589509307
NM_004369.4(COL6A3):c.6257G>T (p.Gly2086Val) rs1574976543
NM_004370.6(COL12A1):c.756dup (p.Ser253fs) rs1582208315
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn) rs895608889
NM_004415.4(DSP):c.979A>G (p.Asn327Asp) rs794727915
NM_004423.4(DVL3):c.1715-1G>C rs869025217
NM_004523.4(KIF11):c.895A>G (p.Ile299Val) rs1844517913
NM_004553.6(NDUFS6):c.80G>A (p.Cys27Tyr) rs1579936916
NM_004577.4(PSPH):c.340del (p.Ser114fs) rs1788688718
NM_004628.5(XPC):c.1872+1G>C rs1559374923
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004713.6(NEMF):c.574+1G>T rs1892998702
NM_004750.5(CRLF1):c.983dup (p.Ser328fs) rs1555758035
NM_004793.4(LONP1):c.889G>A (p.Val297Met) rs1599470758
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) rs886041948
NM_004836.7(EIF2AK3):c.1538del (p.Lys513fs) rs1674719462
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs) rs1588621944
NM_004974.4(KCNA2):c.1195G>A (p.Val399Met) rs1064794738
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) rs1601071085
NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter) rs1601070652
NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile) rs1321888585
NM_005045.4(RELN):c.6314del (p.Phe2105fs) rs1830269249
NM_005045.4(RELN):c.9841del (p.Ala3281fs) rs1586472959
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005120.3(MED12):c.1561C>T (p.Arg521Cys) rs1602295979
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) rs1603441682
NM_005188.4(CBL):c.1169A>T (p.Asp390Val) rs763058208
NM_005188.4(CBL):c.306T>G (p.Tyr102Ter) rs397507489
NM_005199.5(CHRNG):c.1366_1367del (p.His457fs) rs1309599304
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg) rs1596339533
NM_005220.3(DLX3):c.337GAG[1] (p.Glu114del) rs1598155105
NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly) rs1435433748
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005506.4(SCARB2):c.108dup (p.Ile37fs) rs1733108376
NM_005522.5(HOXA1):c.175dup (p.Val59fs) rs769152039
NM_005585.5(SMAD6):c.592del (p.Arg198fs) rs1893041298
NM_005591.4(MRE11):c.1166T>A (p.Val389Glu) rs1591680946
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp) rs1176763588
NM_005639.3(SYT1):c.1100_1102dup (p.Lys367dup) rs1593076474
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter) rs1561635887
NM_005797.4(MPZL2):c.226-1G>A rs1949708829
NM_005807.6(PRG4):c.3139_3140del (p.Lys1047fs) rs1571575523
NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer) rs769917456
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del) rs1575202038
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005957.5(MTHFR):c.776T>C (p.Ile259Thr) rs1570478057
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg) rs1315777461
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val) rs1555641324
NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg) rs758413695
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.74G>A (p.Cys25Tyr) rs1565627777
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) rs1942168488
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser) rs587784495
NM_006015.6(ARID1A):c.1113G>A (p.Gly371=) rs1485078108
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met) rs371505143
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_006118.4(HAX1):c.463dup (p.Gln155fs) rs1572018886
NM_006208.3(ENPP1):c.1066T>C (p.Trp356Arg) rs751147622
NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter) rs561075447
NM_006295.3(VARS1):c.1341G>T (p.Met447Ile) rs1581645904
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006412.4(AGPAT2):c.335del (p.Pro112fs) rs1588263957
NM_006439.5(MAB21L2):c.151C>G (p.Arg51Gly) rs587777512
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter) rs1555989364
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter) rs104893720
NM_006586.5(CNPY3):c.496-3_496-2del rs1581718297
NM_006642.5(SDCCAG8):c.1853+1G>A rs1573930690
NM_006721.4(ADK):c.813dup (p.Asn272fs) rs1589286482
NM_006755.2(TALDO1):c.793del (p.Gln265fs) rs727502867
NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr) rs1554486894
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His) rs767374538
NM_006772.3(SYNGAP1):c.1269T>A (p.Tyr423Ter) rs1561785045
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) rs150736372
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006922.4(SCN3A):c.3265G>C (p.Asp1089His) rs1574158109
NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del) rs1582192007
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser) rs754590341
NM_007262.5(PARK7):c.191_192del (p.Glu64fs) rs1553122929
NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala) rs80357069
NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala) rs866395967
NM_007348.4(ATF6):c.1784del (p.Leu595fs) rs1558022158
NM_007348.4(ATF6):c.511del (p.Ile171fs) rs1571134523
NM_012144.4(DNAI1):c.1311+2T>A rs1587085165
NM_012193.4(FZD4):c.461A>G (p.His154Arg) rs1334686841
NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter) rs1565526121
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_013254.4(TBK1):c.400C>T (p.Arg134Cys) rs1592358092
NM_013275.6(ANKRD11):c.2609_2612dup (p.Asp871fs) rs1597459998
NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter) rs2034195603
NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg) rs1239964151
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu) rs1562313702
NM_014141.6(CNTNAP2):c.2099-79071A>G rs1584975264
NM_014239.4(EIF2B2):c.591C>G (p.Phe197Leu) rs1595009164
NM_014290.3(TDRD7):c.2539G>A (p.Asp847Asn) rs1477743112
NM_014297.5(ETHE1):c.592dup (p.His198fs) rs1555762070
NM_014319.5(LEMD3):c.2094T>G (p.His698Gln) rs1309178409
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu) rs1569361725
NM_014639.4(SKIC3):c.4175_4176dup (p.Val1393fs) rs1582849711
NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys) rs1586200380
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter) rs1581930130
NM_014795.4(ZEB2):c.3114C>G (p.His1038Gln) rs1573708173
NM_014845.6(FIG4):c.968A>G (p.Gln323Arg) rs1583671246
NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro) rs1660016633
NM_014915.3(ANKRD26):c.2476G>T (p.Glu826Ter) rs1589257502
NM_014915.3(ANKRD26):c.5102_5106del (p.Val1701fs) rs2052846280
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014956.5(CEP164):c.347del (p.Lys116fs) rs751277203
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys) rs1565416876
NM_014989.7(RIMS1):c.2770+2T>C rs1590681805
NM_014994.3(MAPKBP1):c.934C>T (p.Arg312Ter) rs1596088812
NM_015100.4(POGZ):c.2188_2190delinsAAA (p.Tyr730Lys) rs1571340611
NM_015158.5(KANK1):c.130G>T (p.Asp44Tyr) rs1564032190
NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter) rs1585190351
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_015375.3(DSTYK):c.2605G>T (p.Ala869Ser) rs1574742379
NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe) rs1558788291
NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter) rs2077030838
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val) rs1303667371
NM_015474.4(SAMHD1):c.625+1G>A rs1601141002
NM_015506.3(MMACHC):c.616del (p.Arg206fs) rs1163462384
NM_015697.9(COQ2):c.16C>A (p.Gln6Lys) rs752575160
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) rs1602937895
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp) rs1570073403
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro) rs730882234
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs) rs1863269109
NM_016156.6(MTMR2):c.25_26del (p.Leu10fs) rs1591060788
NM_016180.5(SLC45A2):c.870del (p.Asn290fs) rs1579547726
NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter) rs755138493
NM_016239.4(MYO15A):c.346_376del (p.Gly116fs) rs1597747826
NM_016341.4(PLCE1):c.3058C>T (p.Gln1020Ter) rs895782232
NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr) rs180876175
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) rs1593410369
NM_016648.4(LARP7):c.1024_1030dup (p.Thr344fs) rs1057519017
NM_016648.4(LARP7):c.427del (p.Arg143fs) rs1560929898
NM_017414.4(USP18):c.1073+1G>A rs1602534094
NM_017721.5(CC2D1A):c.748+1G>T rs876657679
NM_017755.6(NSUN2):c.1020del (p.Gly341fs) rs1579368865
NM_017780.4(CHD7):c.6734del (p.Leu2245fs) rs1563661595
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg) rs1586468892
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017946.4(FKBP14):c.197+5_197+8del rs747353360
NM_018010.4(IFT57):c.585+3A>G rs1560127636
NM_018127.7(ELAC2):c.1299G>T (p.Trp433Cys) rs1598224070
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) rs397515465
NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del) rs1385075246
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018196.4(TMLHE):c.6G>T (p.Trp2Cys) rs782121512
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018238.4(AGK):c.72G>A (p.Trp24Ter) rs1587053244
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter) rs1589625941
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg) rs1582168492
NM_018486.3(HDAC8):c.859T>C (p.Cys287Arg) rs1602975122
NM_018489.3(ASH1L):c.1573G>C (p.Val525Leu) rs1570942566
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter) rs1411237396
NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu) rs1586807529
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter) rs1596194950
NM_019096.5(GTPBP2):c.1236+1G>A rs1252019134
NM_019108.4(SMG9):c.701+4A>G rs869312742
NM_020198.3(CCDC47):c.567_570del (p.Glu190fs) rs765103846
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup) rs1558212011
NM_020312.4(COQ9):c.184C>T (p.His62Tyr) rs757251412
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020451.3(SELENON):c.455G>T (p.Ser152Ile) rs762382665
NM_020461.4(TUBGCP6):c.4521del (p.Phe1508fs) rs2064470709
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020778.4(ALPK3):c.5019del rs2141573290
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe) rs1599633287
NM_020971.3(SPTBN4):c.4584+1G>T rs1599794560
NM_021005.4(NR2F2):c.1087C>A (p.Leu363Ile) rs1596432381
NM_021147.5(CCNO):c.425del (p.Pro142fs) rs752527657
NM_021222.3(PRUNE1):c.901A>G (p.Ile301Val) rs1558088029
NM_021224.6(ZNF462):c.6671_6672insG (p.Asp2224fs) rs1588136019
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter) rs569240271
NM_021942.6(TRAPPC11):c.1208-5C>G rs185570336
NM_021942.6(TRAPPC11):c.464C>T (p.Ser155Leu) rs868721699
NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu) rs768092083
NM_022167.4(XYLT2):c.520del (p.Ala174fs) rs797044807
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter) rs749688157
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs) rs1570452214
NM_022356.4(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_022370.4(ROBO3):c.2727C>G (p.Cys909Trp) rs1565313973
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val) rs1581535417
NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln) rs1573454800
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val) rs28937903
NM_024339.5(THOC6):c.837C>A (p.Cys279Ter) rs146682486
NM_024422.6(DSC2):c.2075T>C (p.Leu692Pro) rs1567972995
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024598.4(USB1):c.370T>C (p.Ser124Pro) rs1597049287
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025074.7(FRAS1):c.1226dup (p.Gln411fs) rs1727403682
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter) rs1292516576
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala) rs121917884
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) rs1565941025
NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter) rs1598089943
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_031229.4(RBCK1):c.461-2A>G rs2016220601
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys) rs1602749982
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn) rs749894314
NM_032228.6(FAR1):c.772G>A (p.Gly258Arg) rs1591268116
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) rs756783990
NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser) rs1430511251
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) rs556752387
NM_032608.7(MYO18B):c.969AAG[1] (p.Arg325del) rs1601634468
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn) rs558425417
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe) rs200113494
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu) rs1575477812
NM_033409.4(SLC52A3):c.71G>A (p.Trp24Ter) rs1599959574
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_052859.4(RFT1):c.749C>T (p.Ser250Phe) rs1575494329
NM_052867.4(NALCN):c.2831dup (p.Thr945fs) rs1594211244
NM_052867.4(NALCN):c.3533T>C (p.Leu1178Pro) rs1594168705
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro) rs969835605
NM_057175.5(NAA15):c.691+1G>A rs1579109565
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_078480.3(PUF60):c.931del (p.Thr311fs) rs1586565506
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) rs1007569346
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs) rs587781231
NM_130839.5(UBE3A):c.883A>G (p.Ser295Gly) rs1595810000
NM_133259.4(LRPPRC):c.1177T>C (p.Tyr393His) rs863224054
NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp) rs863224054
NM_133433.4(NIPBL):c.4173_4174del (p.Cys1391_Asp1392delinsTer) rs1747566758
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter) rs104894113
NM_138272.3(MPIG6B):c.149dup (p.Ala52fs) rs1807027560
NM_138425.4(C12orf57):c.53-2A>G rs1114167293
NM_138638.5(CFL2):c.338del (p.Ser113fs) rs1594784544
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn) rs370608473
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro) rs1572611822
NM_139284.3(LGI4):c.834del (p.Ser279fs) rs1600470099
NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn) rs1892588636
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_145207.3(AFG2A):c.1741A>T (p.Lys581Ter) rs1725521831
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu) rs755024172
NM_145331.3(MAP3K7):c.608-1G>A rs1180249151
NM_145331.3(MAP3K7):c.986A>T (p.Asn329Ile) rs767139595
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_153218.4(LACC1):c.268_272dup (p.Lys92fs) rs1955020297
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg) rs730880295
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter) rs1576660495
NM_153252.5(BRWD3):c.3602+20C>G rs1602309498
NM_153816.6(SNX14):c.1725del (p.Phe575fs) rs1311909367
NM_153816.6(SNX14):c.1809A>G (p.Ala603=) rs1582696313
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_172107.4(KCNQ2):c.1280G>A (p.Gly427Glu) rs1601590796
NM_172107.4(KCNQ2):c.724T>G (p.Cys242Gly) rs1555871915
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_174916.3(UBR1):c.1440-1G>A rs1596118528
NM_175914.5(HNF4A):c.50-4560G>A rs1254732171
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177550.5(SLC13A5):c.285CGTGGC[3] (p.97AV[3]) rs1555543390
NM_178012.5(TUBB2B):c.4C>A (p.Arg2Ser) rs1581526962
NM_178138.6(LHX3):c.112A>G (p.Ile38Val) rs1341469393
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr) rs1588563037
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_178857.6(RP1L1):c.5033del (p.Ala1678fs) rs1797772026
NM_181458.4(PAX3):c.*3G>C rs1574618272
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro) rs1590156657
NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter) rs1599651726
NM_182641.4(BPTF):c.3310G>C (p.Glu1104Gln) rs749720186
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) rs121912543
NM_182895.5(SCARF2):c.25del (p.Ala9fs) rs1215759021
NM_182977.3(NNT):c.98dup (p.Leu33fs) rs1579966821
NM_183050.4(BCKDHB):c.674T>C (p.Leu225Pro) rs398124590
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu) rs1554513911
NM_198239.2(CCN6):c.246del (p.Glu84fs) rs797044438
NM_198239.2(CCN6):c.648G>T (p.Trp216Cys) rs781860587
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198488.5(FAM83H):c.1379G>A (p.Trp460Ter) rs137854444
NM_203447.4(DOCK8):c.882dup (p.Glu295fs) rs1554668061
NM_203475.3(PORCN):c.329+1G>A rs1602070594
NM_205836.3(FBXO38):c.1618+1G>T rs1581261359
NM_207037.2(TCF12):c.1035+5G>A rs878853094
NM_207111.4(RNF216):c.2663T>A (p.Val888Glu) rs1449103875
NM_207391.3(RGS9BP):c.323_342delinsACCGGCG (p.Pro108fs) rs1968005848
NM_213653.4(HJV):c.497A>G (p.His166Arg) rs1553769663

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