ClinVar Miner

Variants with conflicting interpretations "likely benign" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "benign" from any submitter

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 985
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HGVS dbSNP
NC_012920.1:m.5951A>G rs7340122
NC_012920.1:m.6071T>C rs7340086
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000036.2(AMPD1):c.433G>A (p.Val145Met) rs61741025
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000044.6(AR):c.171_173GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000054.6(AVPR2):c.740G>A (p.Arg247His) rs149668713
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000061.2(BTK):c.615G>T (p.Glu205Asp) rs35877704
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000076.2(CDKN1C):c.-84G>A rs188494894
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000086.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.3348+18A>G rs1800347
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.843+4C>T rs4647506
NM_000141.4(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000147.4(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000168.6(GLI3):c.1357-17C>G rs190600888
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000192.3(TBX5):c.316A>G (p.Ile106Val) rs147710408
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000222.2(KIT):c.532G>A (p.Ala178Thr) rs115585711
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000272.4(NPHP1):c.689C>T (p.Ala230Val) rs113450177
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000283.3(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000310.3(PPT1):c.627+4A>G rs572153728
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000321.2(RB1):c.1216-29A>G rs3092886
NM_000328.3(RPGR):c.905G>C (p.Cys302Ser) rs62640590
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952
NM_000335.4(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.4(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000339.3(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000377.2(WAS):c.391G>A (p.Glu131Lys) rs146220228
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672
NM_000387.6(SLC25A20):c.773G>A (p.Arg258Gln) rs35989076
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000397.3(CYBB):c.1551T>A (p.Asp517Glu) rs151344452
NM_000401.3(EXT2):c.1116T>C (p.Cys372=) rs11828047
NM_000411.8(HLCS):c.1528G>A (p.Gly510Arg) rs75867009
NM_000411.8(HLCS):c.1921G>A (p.Val641Met) rs150665851
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866
NM_000426.3(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.3(LAMA2):c.5909G>C (p.Cys1970Ser) rs148451013
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000426.3(LAMA2):c.74C>T (p.Pro25Leu) rs145310035
NM_000431.4(MVK):c.769-7T>G rs104895331
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.2(SLC26A4):c.416-16G>T rs114992866
NM_000445.5(PLEC):c.10042G>A (p.Gly3348Arg) rs34132016
NM_000445.5(PLEC):c.4679G>A (p.Arg1560Gln) rs201430180
NM_000445.5(PLEC):c.5557C>T (p.Arg1853Trp) rs200575795
NM_000445.5(PLEC):c.8093G>A (p.Arg2698Gln) rs28526657
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399
NM_000480.3(AMPD3):c.958G>T (p.Val320Leu) rs117706710
NM_000481.3(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.3(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.164+28A>G rs34010645
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000495.5(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000533.5(PLP1):c.-31C>T rs2233695
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620
NM_000544.3(TAP2):c.44T>C (p.Val15Ala) rs55827768
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) rs1130737
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000744.6(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000747.3(CHRNB1):c.1045-6C>G rs79209506
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415
NM_000751.3(CHRND):c.243C>T (p.His81=) rs115841867
NM_000814.6(GABRB3):c.682+20A>G rs75015217
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) rs150818619
NM_001005207.5(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_001005336.3(DNM1):c.*21C>T rs199498658
NM_001005336.3(DNM1):c.1894-18G>T rs116335289
NM_001005336.3(DNM1):c.1905+17C>T rs115623280
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530
NM_001017995.3(SH3PXD2B):c.1612_1617GAGCGG[2] (p.538_539ER[2]) rs534091900
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val) rs372138746
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001036.5(RYR3):c.6125A>G (p.Asn2042Ser) rs116926961
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624
NM_001039958.2(MESP2):c.549_584del (p.180_181QG[7]) rs749710849
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502
NM_001040616.3(LINS1):c.1813A>G (p.Met605Val) rs141855950
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) rs2276973
NM_001077350.3(NPRL3):c.1486G>A (p.Ala496Thr) rs58036849
NM_001077691.2(ALG9):c.251C>T (p.Ser84Leu) rs17113312
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566
NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338
NM_001080476.2(GRXCR1):c.272G>T (p.Gly91Val) rs113203706
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.220+12G>C rs76843552
NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) rs115556836
NM_001083602.2(PTCH1):c.2480G>A (p.Arg827His) rs138154222
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013
NM_001085372.3(UQCC3):c.226T>G (p.Trp76Gly) rs143509965
NM_001101.5(ACTB):c.363+16C>T rs73332405
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001110556.2(FLNA):c.6023-10C>G rs72616474
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865
NM_001113378.1(FANCI):c.1211T>C (p.Ile404Thr) rs79080874
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.1893A>C (p.Leu631Phe) rs118138806
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.1(FANCI):c.3255+6dupT rs878854178
NM_001127178.3(PIGG):c.158C>A (p.Ala53Asp) rs28454778
NM_001127178.3(PIGG):c.164C>A (p.Ser55Tyr) rs34120878
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.6633_6635CCA[8] (p.His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6659_6661del (p.His2220del) rs749638821
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220dup) rs768950814
NM_001127500.3(MET):c.2962C>T (p.Arg988Cys) rs34589476
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_001128126.3(AP4S1):c.306+42G>A rs74807133
NM_001128209.2(SGCD):c.696+13_696+15del rs397517924
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843
NM_001128227.3(GNE):c.-10G>A rs73449614
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001128849.2(SMARCA4):c.222+14T>C rs112825147
NM_001128849.2(SMARCA4):c.2275-3C>A rs117611401
NM_001128849.2(SMARCA4):c.4731+12G>A rs34930626
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134771.2(SLC12A5):c.1258A>T (p.Thr420Ser) rs34058554
NM_001134831.2(AHI1):c.1152-11T>G rs113317693
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987
NM_001136193.2(FASTKD2):c.-51A>G rs116297724
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753
NM_001136194.1(FASTKD2):c.1435G>T (p.Val479Leu) rs145043229
NM_001145026.2(PTPRQ):c.202G>A (p.Gly68Arg) rs61729303
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001145809.2(MYH14):c.1205A>G (p.Asn402Ser) rs537153044
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) rs55645295
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040
NM_001161352.2(KCNMA1):c.117_119CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.144_146TTC[3] (p.Ser60del) rs751901610
NM_001164277.1(SLC37A4):c.1275C>T (p.Ser425=) rs35010541
NM_001165928.3(DAG1):c.259A>G (p.Ile87Val) rs116717961
NM_001171155.2(PET100):c.82G>A (p.Glu28Lys) rs4134804
NM_001172435.2(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342
NM_001172697.1(TSFM):c.571+3286G>A rs114694283
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.35-17C>T rs147953784
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412
NM_001182.4(ALDH7A1):c.-34G>C rs140627539
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001193466.2(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001193466.2(KANSL1):c.2294C>T (p.Ala765Val) rs151099014
NM_001193466.2(KANSL1):c.620A>G (p.Asn207Ser) rs144882998
NM_001193466.2(KANSL1):c.773T>C (p.Leu258Ser) rs145714368
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001197104.1(KMT2A):c.158C>T (p.Ala53Val) rs9332747
NM_001197104.1(KMT2A):c.89C>G (p.Ala30Gly) rs9332745
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001202.6(BMP4):c.370+28G>A rs72680532
NM_001242897.2(DEPDC5):c.1870+3481C>T rs181347577
NM_001242897.2(DEPDC5):c.814G>A (p.Val272Ile) rs187334123
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=) rs34249695
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe) rs78141380
NM_001257988.1(TYMP):c.242G>A (p.Arg81Gln) rs143789597
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703
NM_001271.4(CHD2):c.4592+18G>A rs116022337
NM_001271208.2(NEB):c.23600C>T (p.Thr7867Ile) rs34368668
NM_001271208.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_001271620.2(ZNF423):c.2960C>T (p.Ala987Val) rs111229124
NM_001272071.2(AP1S2):c.288T>C (p.Ser96=) rs61741688
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731
NM_001277115.2(DNAH11):c.3946A>G (p.Met1316Val) rs17144788
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967
NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys) rs140048925
NM_001277115.2(DNAH11):c.7812-18C>G rs147865931
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His) rs72657371
NM_001277269.1(OTOG):c.2548G>C (p.Gly850Arg) rs61734214
NM_001291303.1(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994
NM_001291303.1(FAT4):c.14663C>G (p.Ala4888Gly) rs35340865
NM_001291303.1(FAT4):c.6733G>A (p.Val2245Ile) rs112971995
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946
NM_001308211.1(EARS2):c.1412A>C (p.Lys471Thr) rs137973249
NM_001308211.1(EARS2):c.16A>G (p.Arg6Gly) rs113722817
NM_001318510.2(ACSL4):c.806+3A>G rs183171123
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916
NM_001347721.2(DYRK1A):c.208-40C>G rs140466090
NM_001360.2(DHCR7):c.25A>T (p.Ile9Phe) rs115595829
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001
NM_001365276.2(TNXB):c.6811G>C (p.Val2271Leu) rs140770834
NM_001365276.2(TNXB):c.7168+19C>A rs11752495
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile) rs17207902
NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr) rs28361051
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476
NM_001367624.1(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004
NM_001367624.1(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796
NM_001369.2(DNAH5):c.13338+16C>T rs115271897
NM_001369.2(DNAH5):c.299G>C (p.Gly100Ala) rs144236383
NM_001369.2(DNAH5):c.6579+20G>A rs115382993
NM_001369.2(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673
NM_001369.2(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005
NM_001397.3(ECE1):c.1385G>A (p.Ser462Asn) rs141146885
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832
NM_001458.4(FLNC):c.7614G>T (p.Leu2538Phe) rs180834558
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg) rs144922627
NM_001605.2(AARS1):c.64G>A (p.Glu22Lys) rs151091410
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001625.4(AK2):c.625G>A (p.Ala209Thr) rs12116440
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001830.4(CLCN4):c.244+4C>G rs192492405
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001849.3(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001875.4(CPS1):c.3141+15delA rs577707531
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001918.4(DBT):c.1281+6T>G rs140115881
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002087.3(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002206.3(ITGA7):c.1281+13G>A rs143895796
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939
NM_002206.3(ITGA7):c.459C>G (p.Ile153Met) rs149000088
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691
NM_002317.7(LOX):c.476C>A (p.Pro159Gln) rs41407546
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191
NM_002471.3(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002488.4(NDUFA2):c.40C>G (p.Leu14Val) rs35672074
NM_002529.3(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308
NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg) rs72824905
NM_002661.5(PLCG2):c.2542C>T (p.Leu848Phe) rs114618894
NM_002693.2(POLG):c.126_128GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.2(POLG):c.126_128GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002857.3(PEX19):c.771+3A>G rs141133579
NM_002857.3(PEX19):c.879T>C (p.Gly293=) rs74125561
NM_002968.2(SALL1):c.809C>T (p.Pro270Leu) rs140827311
NM_002977.3(SCN9A):c.2157G>C (p.Trp719Cys) rs202055175
NM_002977.3(SCN9A):c.2359A>G (p.Met787Val) rs149707354
NM_002977.3(SCN9A):c.3328C>T (p.Arg1110Trp) rs190664764
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_002977.3(SCN9A):c.5678G>A (p.Arg1893His) rs79805025
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333
NM_003108.4(SOX11):c.1039_1050AGCGGCAGCAGC[3] (p.347_350SGSS[3]) rs751221446
NM_003122.4(SPINK1):c.88-23A>T rs199929811
NM_003124.5(SPR):c.112G>A (p.Val38Ile) rs146099322
NM_003193.5(TBCE):c.100+13TG[17] rs10524346
NM_003238.5(TGFB2):c.619G>C (p.Val207Leu) rs10482810
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) rs35018800
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796
NM_003829.4(MPDZ):c.1041G>C (p.Leu347Phe) rs34911705
NM_003850.2(SUCLA2):c.256A>G (p.Ile86Val) rs61756204
NM_003895.3(SYNJ1):c.160C>T (p.Pro54Ser) rs61755328
NM_004006.2(DMD):c.10087-20C>T rs41303187
NM_004006.2(DMD):c.1666G>A (p.Asp556Asn) rs182708940
NM_004006.2(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003
NM_004064.4(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150
NM_004104.5(FASN):c.2155G>A (p.Glu719Lys) rs12946178
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436
NM_004260.3(RECQL4):c.161A>G (p.Gln54Arg) rs35198096
NM_004260.3(RECQL4):c.1879-15C>A rs35126141
NM_004260.3(RECQL4):c.2557_2562TGCACC[4] (p.853_854CT[4]) rs548804317
NM_004281.3(BAG3):c.1138C>T (p.Pro380Ser) rs144692954
NM_004281.3(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004321.7(KIF1A):c.4718+16C>T rs138847355
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501
NM_004369.3(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939
NM_004376.6(COX15):c.988-8C>A rs542092025
NM_004415.4(DSP):c.*9T>A rs11558732
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004456.4(EZH2):c.2028T>C (p.Asn676=) rs115842196
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423
NM_004484.3(GPC3):c.1285G>A (p.Val429Met) rs11539789
NM_004484.3(GPC3):c.826G>A (p.Gly276Ser) rs141100113
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291
NM_004544.3(NDUFA10):c.1000-10delT rs863224081
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421
NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004826.4(ECEL1):c.967-7C>G rs76735188
NM_004840.3(ARHGEF6):c.891G>T (p.Gln297His) rs5974620
NM_004863.3(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708
NM_004895.4(NLRP3):c.403+7G>A rs192297357
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004984.4(KIF5A):c.820-19G>T rs181688415
NM_004985.5(KRAS):c.528_530GAA[1] (p.Lys180del) rs397517043
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.378-17delT rs61753982
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_005025.4(SERPINI1):c.289G>A (p.Val97Ile) rs61750375
NM_005025.4(SERPINI1):c.518A>G (p.Asp173Gly) rs61735309
NM_005045.3(RELN):c.1290-3dupT rs146986040
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344
NM_005120.3(MED12):c.1248+15T>C rs187377817
NM_005188.3(CBL):c.107_109ACC[8] (p.His42dup) rs373212940
NM_005188.3(CBL):c.2036+9G>T rs142704935
NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.3(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005198.4(CHKB):c.983A>G (p.Gln328Arg) rs141381896
NM_005219.5(DIAPH1):c.1821_1823TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821_1823TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) rs2020957
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005270.4(GLI2):c.3349G>T (p.Val1117Leu) rs147580961
NM_005270.4(GLI2):c.3590G>A (p.Gly1197Asp) rs114823319
NM_005270.4(GLI2):c.803C>T (p.Ala268Val) rs146992756
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926
NM_005445.3(SMC3):c.1092-8T>G rs79912955
NM_005445.3(SMC3):c.2644+6T>A rs201281088
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505
NM_005534.3(IFNGR2):c.544A>G (p.Lys182Glu) rs17878711
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005603.6(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser) rs143937661
NM_005629.4(SLC6A8):c.1141+18G>A rs187400676
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.2167+6T>G rs186640807
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017
NM_005751.4(AKAP9):c.8485G>A (p.Glu2829Lys) rs149946443
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_006005.3(WFS1):c.712+16G>A rs71524367
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705
NM_006059.4(LAMC3):c.1630+5C>G rs184221540
NM_006059.4(LAMC3):c.1792G>A (p.Gly598Arg) rs116422150
NM_006059.4(LAMC3):c.2039C>T (p.Thr680Met) rs73658916
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val) rs34623017
NM_006129.5(BMP1):c.2234-20C>T rs142089697
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006267.5(RANBP2):c.2351G>A (p.Arg784Lys) rs2912838
NM_006267.5(RANBP2):c.73-6T>A rs201485597
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474
NM_006348.3(COG5):c.1340A>G (p.Tyr447Cys) rs41276187
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His) rs114156788
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) rs200353554
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715
NM_006702.5(PNPLA6):c.1340C>T (p.Pro447Leu) rs145191932
NM_006702.5(PNPLA6):c.3964G>A (p.Gly1322Ser) rs145178162
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648
NM_006767.4(LZTR1):c.1353+8C>G rs75959644
NM_006846.3(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_006904.6(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228
NM_006920.6(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.6(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956
NM_006920.6(SCN1A):c.5831T>C (p.Ile1944Thr) rs35735053
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala) rs139502866
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) rs144586070
NM_007059.4(KPTN):c.631G>C (p.Gly211Arg) rs182019900
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165
NM_007103.4(NDUFV1):c.1163-12del rs147787116
NM_007137.3(ZNF81):c.470A>G (p.Asn157Ser) rs41312157
NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) rs150367385
NM_007171.3(POMT1):c.1764C>T (p.Ser588=) rs150814269
NM_007254.3(PNKP):c.1189-22_1189-19delTTGT rs368832563
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375
NM_012280.4(FTSJ1):c.307C>G (p.Gln103Glu) rs78979358
NM_012330.4(KAT6B):c.4079_4087AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_012452.2(TNFRSF13B):c.563A>T (p.Lys188Met) rs74811083
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410
NM_012472.6(LRRC6):c.914+13A>G rs113135637
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe) rs35322815
NM_013314.3(BLNK):c.472G>T (p.Ala158Ser) rs148612299
NM_013335.4(GMPPA):c.40+15G>A rs80239182
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys) rs143790434
NM_014009.3(FOXP3):c.543C>T (p.Ser181=) rs2232367
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014159.6(SETD2):c.2543C>T (p.Ala848Val) rs75248784
NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile) rs145392673
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714
NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met) rs73122634
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169
NM_014467.3(SRPX2):c.460C>G (p.His154Asp) rs73636611
NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln) rs111544687
NM_014646.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393
NM_014722.5(RIPOR2):c.1676C>T (p.Ser559Leu) rs142889670
NM_014722.5(RIPOR2):c.1836A>C (p.Leu612Phe) rs143785002
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_014908.3(DOLK):c.1dup (p.Met1fs) rs531969689
NM_014946.3(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
NM_015074.3(KIF1B):c.1977+6956A>G rs148481786
NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs61999305
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581
NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr) rs113765431
NM_015107.3(PHF8):c.2131G>A (p.Glu711Lys) rs41306749
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105
NM_015107.3(PHF8):c.2790_2792CTC[2] (p.Ser933del) rs782660284
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.11875+18G>A rs139647347
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) rs138921247
NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) rs28730855
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299
NM_015243.2(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510
NM_015335.4(MED13L):c.1283A>G (p.His428Arg) rs144410580
NM_015335.4(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200
NM_015335.4(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273
NM_015548.5(DST):c.3319-3641T>C rs141573097
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn) rs201973930
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570
NM_015697.8(COQ2):c.344A>C (p.Asp115Ala) rs375934957
NM_015697.8(COQ2):c.574A>G (p.Thr192Ala) rs144913206
NM_015697.8(COQ2):c.587A>G (p.Asn196Ser) rs150295921
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243
NM_016169.3(SUFU):c.1018G>T (p.Ala340Ser) rs34135067
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072
NM_016513.4(ICK):c.831+5del rs200780900
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704
NM_017777.3(MKS1):c.1388G>A (p.Arg463Gln) rs201619500
NM_017777.3(MKS1):c.213C>G (p.Asp71Glu) rs142813109
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017802.4(DNAAF5):c.1024+11G>T rs201554395
NM_017827.3(SARS2):c.393+149delA rs375344827
NM_017837.3(PIGV):c.615C>T (p.Asn205=) rs34512715
NM_017838.3(NHP2):c.302G>A (p.Arg101Gln) rs145890370
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.10310C>T (p.Ala3437Val) rs112045467
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.7052G>A (p.Arg2351Gln) rs61754113
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017929.6(PEX26):c.130C>T (p.Leu44Phe) rs150895887
NM_018013.4(SOBP):c.2232_2234GCC[6] (p.Pro751del) rs541688197
NM_018062.3(FANCL):c.112C>T (p.Leu38Phe) rs55849827
NM_018062.3(FANCL):c.670A>G (p.Thr224Ala) rs149731356
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) rs505760
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827
NM_018139.2(DNAAF2):c.1367C>T (p.Pro456Leu) rs137991407
NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) rs143028540
NM_018328.4(MBD5):c.3310A>G (p.Ile1104Val) rs115940994
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263
NM_018648.3(NOP10):c.34G>C (p.Asp12His) rs146261631
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_018941.3(CLN8):c.274C>T (p.His92Tyr) rs34030778
NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys) rs115847686
NM_018965.3(TREM2):c.185G>A (p.Arg62His) rs143332484
NM_018965.3(TREM2):c.469C>T (p.His157Tyr) rs2234255
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273
NM_019109.4(ALG1):c.554T>G (p.Phe185Cys) rs112668461
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) rs145750007
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490
NM_020365.5(EIF2B3):c.975+9A>G rs79174967
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429
NM_020442.5(VARS2):c.1514C>T (p.Ser505Phe) rs61746524
NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu) rs117304542
NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) rs80097077
NM_020549.4(CHAT):c.896C>T (p.Pro299Leu) rs868749
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys) rs77696190
NM_020686.6(ABAT):c.603+3G>A rs41312254
NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val) rs145131801
NM_020699.4(GATAD2B):c.676C>G (p.Pro226Ala) rs115193744
NM_020717.3(SHROOM4):c.4066G>A (p.Val1356Ile) rs137923286
NM_020732.3(ARID1B):c.3025+6C>T rs148976215
NM_020732.3(ARID1B):c.342_344GCA[8] (p.Gln131dup) rs587779743
NM_020732.3(ARID1B):c.366_368GCA[9] (p.Gln130_Gln131dup) rs587779744
NM_020732.3(ARID1B):c.921_923CGG[9] (p.Gly319dup) rs587779747
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser) rs113433939
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) rs112247130
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) rs139659618
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783
NM_020806.4(GPHN):c.127G>T (p.Val43Leu) rs117256383
NM_020822.3(KCNT1):c.2943+6C>T rs28612938
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575
NM_020921.3(NIN):c.264A>T (p.Pro88=) rs61755037
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011
NM_021072.4(HCN1):c.203_205GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203_205GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met) rs59052554
NM_021098.3(CACNA1H):c.3206G>A (p.Arg1069Gln) rs57633676
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr) rs148651456
NM_021098.3(CACNA1H):c.5173+10C>T rs72554026
NM_021147.5(CCNO):c.940G>A (p.Glu314Lys) rs114088695
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021939.3(FKBP10):c.1400-4C>G rs114199361
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022068.3(PIEZO2):c.6191G>C (p.Arg2064Thr) rs79992793
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498
NM_022552.4(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_024537.4(CARS2):c.1624-12C>G rs115116722
NM_024570.3(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326
NM_024589.2(ROGDI):c.117+10C>G rs113858060
NM_024589.2(ROGDI):c.713G>A (p.Arg238His) rs138409264
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser) rs12575909
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232
NM_024757.5(EHMT1):c.3180+10G>A rs113676865
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu) rs62185645
NM_024996.5(GFM1):c.568A>C (p.Met190Leu) rs75450876
NM_025074.6(FRAS1):c.109-15delT rs548267943
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025114.3(CEP290):c.1825-13_1825-12delCT rs367600498
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025137.3(SPG11):c.258-6delT rs373234269
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214
NM_025150.5(TARS2):c.1034A>G (p.His345Arg) rs115390773
NM_030582.4(COL18A1):c.56C>T (p.Ala19Val) rs7277693
NM_030662.3(MAP2K2):c.580+6G>A rs201435249
NM_030665.4(RAI1):c.3778_3780GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) rs138332224
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.513+17G>C rs73410819
NM_031466.7(TRAPPC9):c.3091G>A (p.Gly1031Ser) rs114949291
NM_031475.3(ESPN):c.1104T>G (p.Phe368Leu) rs142638391
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750
NM_032121.5(MAGT1):c.67G>A (p.Val23Ile) rs182757967
NM_032382.4(COG8):c.1591C>T (p.Pro531Ser) rs76253513
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser) rs79448721
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp) rs114744903
NM_032551.5(KISS1R):c.565G>A (p.Ala189Thr) rs73507527
NM_032578.3(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923
NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) rs185341934
NM_032682.5(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033084.4(FANCD2):c.378-6_378-5del rs55973240
NM_033084.5(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_033084.5(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860
NM_033084.5(FANCD2):c.983G>A (p.Arg328Gln) rs35625434
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652
NM_033109.5(PNPT1):c.944A>G (p.Lys315Arg) rs35405862
NM_033453.4(ITPA):c.278A>G (p.Glu93Gly) rs34982958
NM_033517.1(SHANK3):c.1803G>A (p.Thr601=) rs73892912
NM_052865.4(MGME1):c.86C>G (p.Ser29Cys) rs143811282
NM_052985.4(IFT122):c.1426C>T (p.Arg476Trp) rs61744639
NM_054012.4(ASS1):c.106-10T>G rs73541957
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_080669.6(SLC46A1):c.1366C>T (p.Pro456Ser) rs186143284
NM_080679.2(COL11A2):c.1696-5T>G rs200523422
NM_080679.2(COL11A2):c.2015C>T (p.Pro672Leu) rs150877886
NM_080679.2(COL11A2):c.4679G>A (p.Arg1560His) rs146555195
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_133645.3(MTO1):c.1086C>G (p.Ile362Met) rs147329295
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp) rs199599204
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr) rs34364382
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570
NM_147127.4(EVC2):c.1711-11_1711-10dupTT rs35103377
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136
NM_152299.4(NCAPH2):c.*261G>A rs8139305
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152743.4(BRAT1):c.1135-8C>A rs113613637
NM_152743.4(BRAT1):c.1867G>A (p.Gly623Ser) rs77015302
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser) rs140451075
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg) rs150942467
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587
NM_153700.2(STRC):c.4127+8C>T rs2470137
NM_153704.5(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_153704.5(TMEM67):c.507-19T>C rs138589757
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170784.2(MKKS):c.724G>T (p.Ala242Ser) rs74315394
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632
NM_173354.5(SIK1):c.274-3del rs550878772
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466
NM_177438.2(DICER1):c.20A>G (p.Gln7Arg) rs117358479
NM_181332.3(NLGN4X):c.897A>G (p.Ile299Met) rs151073358
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935
NM_181882.2(PRX):c.731C>T (p.Ala244Val) rs118071705
NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241
NM_183059.2(RD3):c.584A>T (p.Asp195Val) rs143207434
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198270.4(NHS):c.211C>T (p.Pro71Ser) rs398124605
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg) rs138354681
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468
NM_198576.4(AGRN):c.1660G>A (p.Val554Met) rs79016973
NM_198576.4(AGRN):c.3077C>A (p.Thr1026Asn) rs3813188
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe) rs150132566
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr) rs111818381
NM_203447.3(DOCK8):c.3840+3A>G rs16938572
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212
NM_213599.2(ANO5):c.2354T>G (p.Leu785Arg) rs146136277
NR_001566.1(TERC):n.228G>A rs141686314
m.1393G>A rs111033325

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