ClinVar Miner

Variants with conflicting interpretations "benign" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "likely benign" from any submitter

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3059
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HGVS dbSNP
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
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.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289
NM_000038.6(APC):c.532-32T>C rs112108777
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
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_000048.4(ASL):c.576G>A (p.Lys192=) rs115468878
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000051.4(ATM):c.146C>G rs1800054
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000052.7(ATP7A):c.4226+11T>C rs200009243
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.3903+6C>T rs2282057
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000057.4(BLM):c.2555+7T>C rs3815003
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.516+14C>T rs182828913
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.6057C>T (p.Asn2019=) rs147961615
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.4(BRCA2):c.8487+19A>G rs11571743
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2380+12del rs28364538
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000074.2(CD40LG):c.-191A>C rs36206512
NM_000077.4(CDKN2A):c.-25C>T rs144481587
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000086.2(CLN3):c.240G>A (p.Thr80=) rs373911322
NM_000086.2(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000089.3(COL1A2):c.3139G>A (p.Val1047Met) rs35820023
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) rs11547387
NM_000104.3(CYP1B1):c.1294= (p.Leu432=) rs1056836
NM_000104.3(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000109.4(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000117.2(EMD):c.445G>C (p.Asp149His) rs2070818
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000137.3(FAH):c.1259G>A (p.Ter420=) rs61747586
NM_000138.4(FBN1):c.1960+30G>A rs25459
NM_000138.4(FBN1):c.3082+8del rs193922196
NM_000138.4(FBN1):c.75G>A (p.Ala25=) rs543230518
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000144.5(FXN):c.626A>G (p.Asp209Gly) rs74621026
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.546+18G>A rs190153982
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000157.4(GBA):c.1497G>C (p.Val499=) rs1135675
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000168.6(GLI3):c.1357-17C>G rs190600888
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000195.5(HPS1):c.*12C>T rs112544050
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060
NM_000203.5(IDUA):c.299+6C>T rs147498923
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510
NM_000231.3(SGCG):c.*13C>T rs9510701
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000232.4(SGCB):c.92G>T (p.Ser31Ile) rs115928999
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134
NM_000240.3(MAOA):c.1410T>C (p.Asp470=) rs1137070
NM_000240.3(MAOA):c.385A>C (p.Arg129=) rs1800464
NM_000240.3(MAOA):c.891G>T (p.Arg297=) rs6323
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.3(MEFV):c.329T>C rs11466018
NM_000243.3(MEFV):c.585G>A rs200766991
NM_000245.4(MET):c.-14-4G>A rs144126521
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_000245.4(MET):c.654G>A (p.Arg218=) rs35284565
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000252.3(MTM1):c.1260+3G>A rs222410
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000253.3(MTTP):c.453T>C (p.Gly151=) rs991811
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.4353+10G>A rs202205780
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000263.4(NAGLU):c.764+19C>G rs77738617
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.133A>C (p.Ile45Leu) rs145479679
NM_000272.4(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000283.3(PDE6B):c.1401+7_1401+8insA rs537010934
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr) rs144591812
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000306.4(POU1F1):c.666-5G>A rs76296626
NM_000310.4(PPT1):c.363-4G>A rs117284255
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000321.2(RB1):c.380+10C>G rs187110786
NM_000321.2(RB1):c.380+12T>C rs3092881
NM_000321.2(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.3(RB1):c.1961-12T>C rs201697122
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) rs77384282
NM_000326.5(RLBP1):c.346+3_346+8del rs56307321
NM_000327.3(ROM1):c.868del (p.Gln290fs) rs548233813
NM_000328.3(RPGR):c.223A>G (p.Ile75Val) rs111631988
NM_000328.3(RPGR):c.785C>G (p.Ala262Gly) rs138018739
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952
NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628
NM_000337.5(SGCD):c.*2A>C rs200757725
NM_000337.5(SGCD):c.15G>C (p.Glu5Asp) rs549319429
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.699+13_699+15del rs397517924
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.3(ABCA4):c.5836-11G>A rs1800739
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.3(ABCA4):c.6282+7G>A rs17110761
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000356.4(TCOF1):c.2014C>T (p.Pro672Ser) rs73270846
NM_000356.4(TCOF1):c.3478G>A (p.Ala1160Thr) rs137960641
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697
NM_000363.5(TNNI3):c.550-10C>T rs201240150
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.615T>C (p.Ser205=) rs118203414
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.5(TSC1):c.3324C>T rs35593170
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799
NM_000381.4(MID1):c.1230C>T (p.Ser410=) rs16986145
NM_000381.4(MID1):c.1698A>G (p.Glu566=) rs34554583
NM_000381.4(MID1):c.661-8_661-7del rs375668839
NM_000383.4(AIRE):c.1095+6G>A rs1800525
NM_000383.4(AIRE):c.1567-5C>T rs192215705
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) rs45441199
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776
NM_000410.3(HFE):c.340+4T>C rs2071303
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.1701C>T (p.Ile567=) rs111381107
NM_000426.3(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314
NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866
NM_000426.3(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.3(LAMA2):c.3556-15T>G rs17741922
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.4470C>T (p.Asp1490=) rs35089085
NM_000426.3(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224
NM_000426.3(LAMA2):c.4935C>A (p.Thr1645=) rs35579821
NM_000426.3(LAMA2):c.5072-6del rs398123376
NM_000426.3(LAMA2):c.5247C>T (p.Ala1749=) rs149951387
NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.3(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720
NM_000426.3(LAMA2):c.5688C>T (p.His1896=) rs573779258
NM_000426.3(LAMA2):c.6150T>C (p.Asp2050=) rs114766691
NM_000426.3(LAMA2):c.6649G>A (p.Val2217Ile) rs147857398
NM_000426.3(LAMA2):c.675C>T (p.Ala225=) rs139665175
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000426.3(LAMA2):c.8124T>A (p.Gly2708=) rs34997144
NM_000426.3(LAMA2):c.8548-10T>C rs113644365
NM_000426.3(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295
NM_000426.3(LAMA2):c.8982T>C (p.Asp2994=) rs79374915
NM_000428.3(LTBP2):c.4905G>C (p.Leu1635=) rs144520047
NM_000433.3(NCF2):c.1256A>T (p.Asn419Ile) rs35012521
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231
NM_000436.4(OXCT1):c.480G>T (p.Gly160=) rs78432029
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933
NM_000443.4(ABCB4):c.1893+6T>C rs8187798
NM_000443.4(ABCB4):c.3486+8dup rs8187809
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000466.3(PEX1):c.473-3C>T rs150576000
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983
NM_000489.5(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.5(ATRX):c.2785= (p.Glu929=) rs3088074
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.5(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000492.3(CFTR):c.*1043A>C rs10234329
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.164+28A>G rs34010645
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.3(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.-8G>C rs1800501
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.4(CFTR):c.4242+13A>G rs76179227
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891
NM_000512.5(GALNS):c.1002+17C>T rs78494153
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000515.5(GH1):c.116C>T (p.Ala39Val) rs151263636
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) rs61735357
NM_000515.5(GH1):c.363T>A (p.Ser121Arg) rs137882374
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388
NM_000515.5(GH1):c.7A>G (p.Thr3Ala) rs2001345
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428
NM_000521.4(HEXB):c.1614-14C>A rs201448394
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890
NM_000523.4(HOXD13):c.41C>T (p.Ala14Val) rs555136684
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000532.5(PCCB):c.184-12G>T rs181283691
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000540.2(RYR1):c.10259+7G>A rs143752962
NM_000540.2(RYR1):c.10941C>G (p.His3647Gln) rs114351116
NM_000540.2(RYR1):c.11034+20G>T rs186460831
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.14130-8C>G rs140808099
NM_000540.2(RYR1):c.216G>T (p.Leu72=) rs113389877
NM_000540.2(RYR1):c.3042G>A (p.Ala1014=) rs2228074
NM_000540.2(RYR1):c.3972G>A (p.Ala1324=) rs200451188
NM_000540.2(RYR1):c.4071C>T (p.Pro1357=) rs375709463
NM_000540.2(RYR1):c.5493G>T (p.Gly1831=) rs140004449
NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198
NM_000540.2(RYR1):c.6384C>T (p.Tyr2128=) rs75181912
NM_000540.2(RYR1):c.7281C>T (p.Ala2427=) rs77310009
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.8376G>A (p.Arg2792=) rs150388417
NM_000540.2(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840
NM_000540.2(RYR1):c.9414G>A (p.Pro3138=) rs116130182
NM_000540.3(RYR1):c.10687-7C>T rs2960354
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139
NM_000541.5(SAG):c.250C>T (p.Arg84Cys) rs115857633
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669
NM_000545.6(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
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.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) rs34060600
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937
NM_000550.3(TYRP1):c.977G>A (p.Arg326His) rs16929374
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000551.4(VHL):c.340+5G>C rs61758376
NM_000552.4(VWF):c.1329C>T (p.Ser443=) rs142404899
NM_000552.4(VWF):c.5313G>T (p.Gly1771=) rs2229448
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000660.7(TGFB1):c.1010G>C (p.Ser337Thr) rs199699574
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser) rs148090804
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366
NM_000709.4(BCKDHA):c.995+26C>T rs284653
NM_000709.4(BCKDHA):c.995+49G>A rs284654
NM_000709.4(BCKDHA):c.996-33dup rs3217385
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000726.4(CACNB4):c.1303-3T>C rs143442080
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=) rs535699325
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=) rs75593857
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) rs75221202
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=) rs113168860
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=) rs6089898
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=) rs201488442
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) rs79739740
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000795.4(DRD2):c.957C>T (p.Pro319=) rs6277
NM_000834.4(GRIN2B):c.366C>G (p.Pro122=) rs7301328
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339
NM_000843.4(GRM6):c.1732C>T (p.Arg578Cys) rs62638210
NM_000843.4(GRM6):c.19G>A (p.Ala7Thr) rs62642053
NM_000843.4(GRM6):c.727G>T (p.Val243Phe) rs17078894
NM_000860.6(HPGD):c.93+1_93+3dup rs70947447
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_000942.4(PPIB):c.-171C>T rs112481305
NM_001003679.3(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_001004334.4(GPR179):c.3454T>C (p.Ser1152Pro) rs149252987
NM_001005242.3(PKP2):c.1557-13dup rs200009796
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_001005360.2(DNM2):c.162-7C>A rs148318860
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) rs148790687
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001007792.1(NTRK1):c.123-3404C>T rs201472270
NM_001007792.1(NTRK1):c.164G>A (p.Arg55His) rs79678945
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2]) rs534091900
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu) rs117706710
NM_001029883.3(PCARE):c.3669-2AGC[4]
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945
NM_001035.3(RYR2):c.6555+6G>A rs372661934
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416
NM_001037.5(SCN1B):c.-9C>A rs66671189
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135
NM_001039141.3(TRIOBP):c.4178C>T (p.Pro1393Leu) rs28450766
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146
NM_001039213.4(CEACAM16):c.352G>A (p.Glu118Lys) rs183860695
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296
NM_001039348.3(EFEMP1):c.*6del rs200536754
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_001040142.2(SCN2A):c.387-10G>A rs2304015
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966
NM_001042545.2(LTBP4):c.3129C>T (p.Val1043=) rs78745792
NM_001042545.2(LTBP4):c.4298A>T (p.Tyr1433Phe) rs35809725
NM_001042702.5(PJVK):c.766+8T>C rs185220846
NM_001044385.3(TMEM237):c.136+8G>A rs200618675
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326
NM_001077365.2(POMT1):c.1585-14C>T rs78529026
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269
NM_001077365.2(POMT1):c.1826-40G>A rs187443595
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406
NM_001077446.4(TSEN34):c.394G>A (p.Gly132Arg) rs201506921
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310
NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1830G>A (p.Pro610=) rs185072004
NM_001080522.2(CC2D2A):c.2003+19C>T rs17476642
NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782
NM_001080522.2(CC2D2A):c.2181+7A>C rs143681243
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=) rs114968951
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=) rs115453534
NM_001083961.2(WDR62):c.2529C>T (p.Asp843=) rs144697999
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del) rs794727435
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=) rs149289227
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499
NM_001100.3(ACTA1):c.129+31C>A rs144658220
NM_001100.3(ACTA1):c.996C>A (p.Ile332=) rs74897770
NM_001100.4(ACTA1):c.130-10G>C rs41271481
NM_001100.4(ACTA1):c.809-18dup rs398123565
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.1429+8C>T rs202181557
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001110556.2(FLNA):c.6023-10C>G rs72616474
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) rs61750243
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=) rs191294997
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) rs17145653
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618
NM_001123385.2(BCOR):c.4977-4G>T rs5963725
NM_001126049.2(KLLN):c.-898G>A rs538728843
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_001128205.2(SULF1):c.1111A>G (p.Ile371Val) rs118056333
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln) rs35741412
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843
NM_001128227.3(GNE):c.-10G>A rs73449614
NM_001128228.3(TPRN):c.858C>T (p.Cys286=) rs375619082
NM_001128849.2(SMARCA4):c.4864+10G>A rs201665695
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053
NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=) rs139861062
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001130987.2(DYSF):c.1276+11C>T rs35982795
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=) rs560856407
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607
NM_001130987.2(DYSF):c.429C>T (p.Ser143=) rs115390288
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499
NM_001130987.2(DYSF):c.6321+15C>T rs2559082
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229
NM_001130987.2(DYSF):c.888+11T>C rs13428076
NM_001130987.2(DYSF):c.951+39T>C rs74384941
NM_001130987.2(DYSF):c.951+4T>C rs11903960
NM_001134363.3(RBM20):c.1881-3C>T rs138436392
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=) rs139329447
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_001135022.2(ELMOD3):c.865G>A (p.Ala289Thr) rs34973107
NM_001136193.2(FASTKD2):c.-51A>G rs116297724
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_001145308.4(LRTOMT):c.623G>A (p.Arg208Gln) rs61741195
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=) rs113152264
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824
NM_001163817.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001164277.1(SLC37A4):c.1067G>C (p.Ser356Thr) rs547488738
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413
NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys) rs200465274
NM_001173467.3(SP7):c.864G>A (p.Leu288=) rs113295055
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805
NM_001177316.2(SLC34A3):c.273C>T (p.Asp91=) rs145677050
NM_001177316.2(SLC34A3):c.929G>A (p.Arg310His) rs200477567
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709
NM_001194998.2(CEP152):c.4094-9A>T rs80090788
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291
NM_001195553.2(DCX):c.705+48A>G rs201805884
NM_001195553.2(DCX):c.947-46T>C rs113181679
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=) rs142243054
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539
NM_001202.6(BMP4):c.370+28G>A rs72680532
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618
NM_001235.4(SERPINH1):c.267G>A (p.Thr89=) rs139127426
NM_001235.4(SERPINH1):c.721+9T>C rs138193444
NM_001235.4(SERPINH1):c.744C>T (p.Asp248=) rs61733248
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812
NM_001267550.2(TTN):c.10114+5G>A rs115985443
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843
NM_001267550.2(TTN):c.11311+1370G>A rs148115514
NM_001267550.2(TTN):c.11311+1641C>T rs140804168
NM_001267550.2(TTN):c.11311+4338A>C rs139344272
NM_001267550.2(TTN):c.11312-4498G>A rs186841908
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939
NM_001267550.2(TTN):c.16621+7A>T rs10200398
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800
NM_001267550.2(TTN):c.39045G>C (p.Val13015=) rs192464868
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314
NM_001267550.2(TTN):c.39127+10A>C rs397517554
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.39709+6C>T rs72650067
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) rs563969986
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) rs566188777
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885
NM_001267550.2(TTN):c.69716-5C>G rs72646886
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=) rs773886758
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys) rs397517702
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=) rs200992636
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=) rs11897366
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
NM_001271208.2(NEB):c.12147G>A (p.Lys4049=) rs149639365
NM_001271208.2(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16911A>G (p.Pro5637=) rs33988153
NM_001271208.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960
NM_001271208.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211
NM_001271208.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.18861C>T (p.Arg6287=) rs146294986
NM_001271208.2(NEB):c.19056G>T (p.Thr6352=) rs115631125
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.20467-4T>A rs199791504
NM_001271208.2(NEB):c.21651C>T (p.Asn7217=) rs149510427
NM_001271208.2(NEB):c.21690A>G (p.Thr7230=) rs4664475
NM_001271208.2(NEB):c.21825C>T (p.Tyr7275=) rs34718443
NM_001271208.2(NEB):c.24538G>C (p.Ala8180Pro) rs7575451
NM_001271208.2(NEB):c.25309A>G (p.Ile8437Val) rs1061305
NM_001271208.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208
NM_001271208.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_001271208.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621
NM_001271208.2(NEB):c.3636C>T (p.Asp1212=) rs144376972
NM_001271208.2(NEB):c.3639C>T (p.Val1213=) rs74320183
NM_001271208.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.2(NEB):c.4471G>A (p.Val1491Met) rs7426114
NM_001271208.2(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_001271208.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_001271208.2(NEB):c.6807+6T>G rs10930723
NM_001271208.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780
NM_001271208.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209
NM_001271208.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
NM_001271208.2(NEB):c.8592T>C (p.Asp2864=) rs61730772
NM_001271208.2(NEB):c.914A>G (p.Asp305Gly) rs36105240
NM_001271620.2(ZNF423):c.1782C>T (p.His594=) rs75294107
NM_001271620.2(ZNF423):c.2960C>T (p.Ala987Val) rs111229124
NM_001271620.2(ZNF423):c.3087C>T (p.Tyr1029=) rs150027129
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=) rs72655977
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=) rs201207627
NM_001277269.1(OTOG):c.5271C>A (p.Leu1757=) rs193083374
NM_001278074.1(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_001278074.1(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_001278074.1(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_001278074.1(COL5A1):c.3204+3G>A rs202054108
NM_001278074.1(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_001278074.1(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_001278074.1(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_001278074.1(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) rs139654605
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=) rs142611198
NM_001287174.2(ABCC8):c.2117-3C>T rs1799854
NM_001287174.2(ABCC8):c.3332+6C>T rs113873225
NM_001289104.2(PRKCSH):c.939GGA[9] (p.Glu325del) rs3217229
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302
NM_001303626.1(RPL10):c.*156= rs4909
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.555-19C>G rs75057928
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=) rs149013279
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963
NM_001330260.2(SCN8A):c.2371-6A>G rs187002252
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_001330504.1(ALG1):c.57+13C>A rs62036244
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001354689.3(RAF1):c.1890A>G (p.Gln630=) rs141791080
NM_001360.2(DHCR7):c.1092G>A (p.Thr364=) rs35946774
NM_001360.2(DHCR7):c.226G>A (p.Val76Ile) rs368473756
NM_001360.2(DHCR7):c.321+10C>T rs377108406
NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.2(DHCR7):c.987C>T (p.Pro329=) rs145901607
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051
NM_001365068.1(ASTN2):c.2806+27259G>C rs3747834
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354
NM_001365536.1(SCN9A):c.2409T>C (p.Tyr803=) rs142219317
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) rs151241025
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218
NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=) rs201145311
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968
NM_001367624.1(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004
NM_001367624.1(ZNF469):c.1697C>T (p.Ala566Val) rs181785233
NM_001367624.1(ZNF469):c.2814G>A (p.Ala938=) rs140480823
NM_001367624.1(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247
NM_001367624.1(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160
NM_001367624.1(ZNF469):c.8076G>A (p.Pro2692=) rs149200506
NM_001367624.1(ZNF469):c.9125G>A (p.Arg3042His) rs150598363
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295
NM_001367721.1(CASK):c.1669-9C>A rs562152407
NM_001368397.1(FRMPD4):c.3379G>A (p.Glu1127Lys) rs143423231
NM_001369.2(DNAH5):c.7752+10T>C rs149460805
NM_001369.2(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799
NM_001369.2(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001374258.1(BRAF):c.-19C>T rs71645935
NM_001374258.1(BRAF):c.2248-5del rs373442098
NM_001374258.1(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008
NM_001457.4(FLNB):c.1044C>T (p.Asp348=) rs111996979
NM_001457.4(FLNB):c.2382C>T (p.Asp794=) rs146159035
NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=) rs112968165
NM_001457.4(FLNB):c.3264C>T (p.Ser1088=) rs112864468
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=) rs147426569
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041
NM_001458.4(FLNC):c.2501C>T (p.Thr834Met) rs75133741
NM_001458.4(FLNC):c.3006G>A (p.Arg1002=) rs61737781
NM_001458.4(FLNC):c.5042C>G (p.Thr1681Arg) rs193159707
NM_001458.4(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717
NM_001458.4(FLNC):c.5592C>T (p.Ala1864=) rs117517372
NM_001458.4(FLNC):c.597C>T (p.Ala199=) rs143942649
NM_001493.3(GDI1):c.324C>T (p.Ser108=) rs2230286
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln) rs143163513
NM_001605.2(AARS1):c.1672-4T>A rs187509039
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526
NM_001614.5(ACTG1):c.985-5T>C rs370546734
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.5(COL2A1):c.3003+9G>A rs200403247
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379
NM_001844.5(COL2A1):c.708+8C>T rs41317893
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532
NM_001848.2(COL6A1):c.1002+50C>A rs11702079
NM_001848.2(COL6A1):c.1056C>T (p.Asp352=) rs116343553
NM_001848.2(COL6A1):c.1119+39C>T rs74982956
NM_001848.2(COL6A1):c.1120-12G>A rs115107397
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105
NM_001848.2(COL6A1):c.1335+20G>C rs9306146
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=) rs80244281
NM_001848.2(COL6A1):c.1518T>C (p.Gly506=) rs35134265
NM_001848.2(COL6A1):c.1612-10G>A rs141892165
NM_001848.2(COL6A1):c.1612-6C>T rs143812383
NM_001848.2(COL6A1):c.1740+50C>T rs148205490
NM_001848.2(COL6A1):c.1814-6C>G rs182804464
NM_001848.2(COL6A1):c.1833C>T (p.Cys611=) rs142554239
NM_001848.2(COL6A1):c.1957-5C>T rs78224483
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734
NM_001848.2(COL6A1):c.2061C>A (p.Leu687=) rs8132678
NM_001848.2(COL6A1):c.2067-10T>C rs200727020
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=) rs147219060
NM_001848.2(COL6A1):c.2250+6G>C rs202212586
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518
NM_001848.2(COL6A1):c.2517C>T (p.Ser839=) rs141463437
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207
NM_001848.2(COL6A1):c.2667G>A (p.Ala889=) rs1053315
NM_001848.2(COL6A1):c.2736C>T (p.Asp912=) rs13879
NM_001848.2(COL6A1):c.2742C>T (p.Thr914=) rs115163637
NM_001848.2(COL6A1):c.2781C>T (p.Tyr927=) rs61735853
NM_001848.2(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.2(COL6A1):c.2865C>T (p.Ile955=) rs138062080
NM_001848.2(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094
NM_001848.2(COL6A1):c.3054C>T (p.His1018=) rs141237809
NM_001848.2(COL6A1):c.324C>T (p.Gly108=) rs138646508
NM_001848.2(COL6A1):c.428+39C>G rs148766287
NM_001848.2(COL6A1):c.588+37A>G rs117470181
NM_001848.2(COL6A1):c.645G>A (p.Ala215=) rs115292913
NM_001848.2(COL6A1):c.739-18C>T rs144843800
NM_001848.2(COL6A1):c.859-20C>T rs78884675
NM_001848.2(COL6A1):c.958-17G>A rs79364611
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519
NM_001849.3(COL6A2):c.1116+22C>T rs111592472
NM_001849.3(COL6A2):c.116-34G>A rs117154313
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
NM_001849.3(COL6A2):c.1572+3G>A rs372414400
NM_001849.3(COL6A2):c.1609-10C>T rs17357592
NM_001849.3(COL6A2):c.1671+10A>G rs915786
NM_001849.3(COL6A2):c.1671+9C>T rs186428044
NM_001849.3(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850
NM_001849.3(COL6A2):c.1735-30A>G rs73382466
NM_001849.3(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945
NM_001849.3(COL6A2):c.1970-23G>C rs78764604
NM_001849.3(COL6A2):c.2136C>T (p.Asp712=) rs114554195
NM_001849.3(COL6A2):c.2160C>G (p.Arg720=) rs61735829
NM_001849.3(COL6A2):c.2163G>A (p.Gln721=) rs16978875
NM_001849.3(COL6A2):c.2331C>T (p.Cys777=) rs181711180
NM_001849.3(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813
NM_001849.3(COL6A2):c.2592G>A (p.Thr864=) rs1042930
NM_001849.3(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.3(COL6A2):c.2610C>T (p.Asp870=) rs116817879
NM_001849.3(COL6A2):c.2769C>T (p.His923=) rs140419176
NM_001849.3(COL6A2):c.2796G>A (p.Pro932=) rs373274913
NM_001849.3(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001849.3(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001849.3(COL6A2):c.510C>T (p.Cys170=) rs142328765
NM_001849.3(COL6A2):c.528G>A (p.Gln176=) rs377585812
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.714+9C>T rs78822624
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948
NM_001851.5(COL9A1):c.1288-4T>A rs142431834
NM_001851.5(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858
NM_001851.5(COL9A1):c.138G>A (p.Lys46=) rs139361722
NM_001851.5(COL9A1):c.904G>A (p.Gly302Ser) rs151129325
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) rs140697524
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506
NM_001852.4(COL9A2):c.312C>T (p.Pro104=) rs144072834
NM_001852.4(COL9A2):c.31C>T (p.Leu11Phe) rs74506933
NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln) rs200424850
NM_001853.4(COL9A3):c.1726G>A (p.Ala576Thr) rs116005499
NM_001853.4(COL9A3):c.325C>T (p.Pro109Ser) rs774823793
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=) rs139911745
NM_001854.4(COL11A1):c.3979-3T>C rs138464908
NM_001854.4(COL11A1):c.4140+10A>T rs187171126
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001918.4(DBT):c.1150= (p.Gly384=) rs12021720
NM_001918.4(DBT):c.1281+31T>G rs115696850
NM_001918.4(DBT):c.251+14dup rs201469612
NM_001918.4(DBT):c.724T>C (p.Ser242Pro) rs146249007
NM_001918.4(DBT):c.753C>T (p.Asp251=) rs79292123
NM_001918.4(DBT):c.76T>C (p.Cys26Arg) rs145674833
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.4(FBN2):c.629-9A>G rs56025995
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954
NM_002024.6(FMR1):c.1572C>T (p.Ser524=) rs143889976
NM_002024.6(FMR1):c.1857C>T (p.Asp619=) rs45540244
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891
NM_002025.4(AFF2):c.3404+7A>G rs5980615
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser) rs150996735
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823
NM_002087.3(GRN):c.1298G>A (p.Arg433Gln) rs114248177
NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=) rs78807992
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002180.2(IGHMBP2):c.1581C>T (p.Asp527=) rs149736203
NM_002180.2(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425
NM_002180.2(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg) rs150583010
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022
NM_002206.3(ITGA7):c.2433-5G>A rs79745402
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939
NM_002206.3(ITGA7):c.2710C>T (p.Leu904=) rs200149396
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=) rs148170949
NM_002206.3(ITGA7):c.415-10C>T rs11171661
NM_002206.3(ITGA7):c.671-5C>A rs180841797
NM_002206.3(ITGA7):c.791-7C>T rs144699549
NM_002206.3(ITGA7):c.810G>A (p.Gly270=) rs3847675
NM_002206.3(ITGA7):c.824G>A (p.Arg275His) rs74867235
NM_002222.6(ITPR1):c.1962-3T>C rs200335594
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) rs150777198
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191
NM_002471.3(MYH6):c.3979-7del rs397516766
NM_002473.5(MYH9):c.165C>T (p.Ile55=) rs141948797
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199
NM_002474.3(MYH11):c.5172-14C>T rs34839877
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) rs185711494
NM_002547.3(OPHN1):c.1008C>T (p.Asp336=) rs780149034
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=) rs146588152
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112
NM_002615.7(SERPINF1):c.555G>A (p.Gln185=) rs34063250
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236
NM_002693.2(POLG):c.128A>G (p.Gln43Arg) rs28567406
NM_002693.2(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.2(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002764.4(PRPS1):c.942C>T (p.Ser314=) rs147731055
NM_002768.5(CHMP1A):c.27+10G>A rs140547967
NM_002778.4(PSAP):c.1351-14A>G rs4747203
NM_002834.5(PTPN11):c.526-8C>A rs184804143
NM_002857.3(PEX19):c.771+3A>G rs141133579
NM_002900.3(RBP3):c.1631G>A (p.Arg544His) rs41284962
NM_002968.2(SALL1):c.3915C>T (p.Asn1305=) rs140524372
NM_002968.2(SALL1):c.472A>G (p.Ser158Gly) rs139646526
NM_002968.2(SALL1):c.809C>T (p.Pro270Leu) rs140827311
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_002979.5(SCP2):c.675-6T>C rs115815213
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646
NM_003106.4(SOX2):c.834C>T (p.Leu278=) rs144530684
NM_003124.5(SPR):c.112G>A (p.Val38Ile) rs146099322
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_003165.4(STXBP1):c.1548C>T (p.Ser516=) rs145304925
NM_003165.4(STXBP1):c.247-8A>G rs199827018
NM_003165.4(STXBP1):c.325+8C>T rs117372398
NM_003165.4(STXBP1):c.888C>T (p.Ile296=) rs201302013
NM_003238.5(TGFB2):c.1239C>T (p.Cys413=) rs141225367
NM_003282.4(TNNI2):c.354G>A (p.Ser118=) rs141400587
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759
NM_003336.4(UBE2A):c.321A>G (p.Thr107=) rs61757566
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) rs140526335
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270
NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr) rs34080096
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly) rs116306908
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201
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.11380C>T (p.Pro3794Ser) rs113997424
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.13644C>T (p.Ser4548=) rs201119371
NM_003482.3(KMT2D):c.13671+5dup rs147210845
NM_003482.3(KMT2D):c.1938C>G (p.Pro646=) rs147212187
NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.4020+13C>G rs184377216
NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) rs200369026
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414
NM_003482.3(KMT2D):c.7188T>C (p.Cys2396=) rs111305262
NM_003482.3(KMT2D):c.8047-15C>T rs202244933
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471
NM_003611.3(OFD1):c.1129+16A>G rs3815049
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664
NM_003839.4(TNFRSF11A):c.327C>T (p.Pro109=) rs35003467
NM_003863.3(DPM2):c.183G>A (p.Leu61=) rs11552794
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358
NM_003919.3(SGCE):c.391-3T>C rs17166384
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004006.2(DMD):c.10087-20C>T rs41303187
NM_004006.2(DMD):c.1095A>C (p.Gln365His) rs1800266
NM_004006.2(DMD):c.1513G>C (p.Val505Leu) rs140340626
NM_004006.2(DMD):c.1554T>A (p.Asp518Glu) rs61733587
NM_004006.2(DMD):c.1666G>A (p.Asp556Asn) rs182708940
NM_004006.2(DMD):c.1812C>T (p.Ala604=) rs140919039
NM_004006.2(DMD):c.1888A>G (p.Thr630Ala) rs72468692
NM_004006.2(DMD):c.2199C>T (p.Ser733=) rs149882431
NM_004006.2(DMD):c.2827C>T (p.Arg943Cys) rs199986217
NM_004006.2(DMD):c.4529A>G (p.Lys1510Arg) rs72468638
NM_004006.2(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283
NM_004006.2(DMD):c.8571T>C (p.Thr2857=) rs72466570
NM_004006.2(DMD):c.9804A>G (p.Gln3268=) rs12690372
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279
NM_004064.4(CDKN1B):c.426G>A (p.Thr142=) rs149775942
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp) rs2032892
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315
NM_004183.4(BEST1):c.153-22CCACCC[2] rs398124110
NM_004183.4(BEST1):c.715-18TCC[8] rs1805182
NM_004187.4(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004187.5(KDM5C):c.108C>T (p.Pro36=) rs139309563
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871
NM_004260.3(RECQL4):c.1395G>A (p.Thr465=) rs34948955
NM_004260.3(RECQL4):c.161A>G (p.Gln54Arg) rs35198096
NM_004260.3(RECQL4):c.1879-15C>A rs35126141
NM_004260.3(RECQL4):c.1954G>A (p.Val652Met) rs61754061
NM_004260.3(RECQL4):c.275C>T (p.Pro92Leu) rs200516441
NM_004260.3(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464
NM_004260.3(RECQL4):c.3435G>C (p.Gln1145His) rs61755066
NM_004260.3(RECQL4):c.543G>A (p.Gln181=) rs34159914
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954
NM_004281.4(BAG3):c.1587C>T (p.Ala529=) rs149358702
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_004316.4(ASCL1):c.123A>G (p.Ala41=) rs558732328
NM_004321.7(KIF1A):c.2769C>T (p.Ser923=) rs73102625
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.4016-8C>T rs1529663
NM_004321.7(KIF1A):c.991T>C (p.Leu331=) rs1063353
NM_004329.2(BMPR1A):c.1560G>A (p.Thr520=) rs142775086
NM_004329.2(BMPR1A):c.618A>G (p.Leu206=) rs55992440
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023
NM_004360.5(CDH1):c.532-18C>T rs200673941
NM_004369.3(COL6A3):c.1182C>T (p.Thr394=) rs114750216
NM_004369.3(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.3(COL6A3):c.1231C>G (p.Leu411Val) rs113716915
NM_004369.3(COL6A3):c.1248G>A (p.Leu416=) rs150219857
NM_004369.3(COL6A3):c.1264G>A (p.Val422Met) rs114511558
NM_004369.3(COL6A3):c.1313-17A>G rs7579816
NM_004369.3(COL6A3):c.1389C>T (p.Ala463=) rs112896869
NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127
NM_004369.3(COL6A3):c.1976G>A (p.Arg659His) rs36092870
NM_004369.3(COL6A3):c.2030G>A (p.Arg677His) rs35227432
NM_004369.3(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945
NM_004369.3(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.3(COL6A3):c.3054C>T (p.Asn1018=) rs34367758
NM_004369.3(COL6A3):c.3071-16G>A rs73998896
NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=) rs113066678
NM_004369.3(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391
NM_004369.3(COL6A3):c.3205G>A (p.Val1069Met) rs115297652
NM_004369.3(COL6A3):c.3420G>A (p.Thr1140=) rs35489467
NM_004369.3(COL6A3):c.4005C>T (p.Gly1335=) rs34503558
NM_004369.3(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775
NM_004369.3(COL6A3):c.4090G>A (p.Val1364Met) rs35524572
NM_004369.3(COL6A3):c.4107C>T (p.Ile1369=) rs35114079
NM_004369.3(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.4285+17G>A rs3791000
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.4683G>A (p.Gln1561=) rs113074898
NM_004369.3(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032
NM_004369.3(COL6A3):c.5100G>A (p.Arg1700=) rs34340053
NM_004369.3(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083
NM_004369.3(COL6A3):c.5820C>T (p.Ser1940=) rs113542401
NM_004369.3(COL6A3):c.6064-6C>T rs202091342
NM_004369.3(COL6A3):c.6156+4C>T rs111228504
NM_004369.3(COL6A3):c.6408+44A>G rs78398512
NM_004369.3(COL6A3):c.6592-27del rs60436236
NM_004369.3(COL6A3):c.6618C>T (p.Pro2206=) rs201814201
NM_004369.3(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555
NM_004369.3(COL6A3):c.6945C>T (p.Phe2315=) rs2646265
NM_004369.3(COL6A3):c.6972C>T (p.Asn2324=) rs113961575
NM_004369.3(COL6A3):c.730A>G (p.Ile244Val) rs116729313
NM_004369.3(COL6A3):c.7359G>A (p.Glu2453=) rs114199044
NM_004369.3(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773
NM_004369.3(COL6A3):c.7509G>A (p.Arg2503=) rs34181055
NM_004369.3(COL6A3):c.7512C>T (p.Asn2504=) rs2646258
NM_004369.3(COL6A3):c.7668+21G>C rs11897148
NM_004369.3(COL6A3):c.768C>T (p.Val256=) rs79606264
NM_004369.3(COL6A3):c.775G>A (p.Ala259Thr) rs141609058
NM_004369.3(COL6A3):c.7842C>T (p.Ser2614=) rs34558385
NM_004369.3(COL6A3):c.7995A>C (p.Ala2665=) rs80193928
NM_004369.3(COL6A3):c.8010G>A (p.Ala2670=) rs79313758
NM_004369.3(COL6A3):c.8346G>A (p.Glu2782=) rs35911211
NM_004369.3(COL6A3):c.8451A>G (p.Pro2817=) rs61729844
NM_004369.3(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119
NM_004369.3(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552
NM_004369.3(COL6A3):c.8820G>A (p.Thr2940=) rs11683438
NM_004369.3(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206
NM_004369.3(COL6A3):c.882C>T (p.Phe294=) rs7561625
NM_004369.3(COL6A3):c.8962A>G (p.Met2988Val) rs11690358
NM_004369.3(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668
NM_004369.3(COL6A3):c.9069C>T (p.Thr3023=) rs111234422
NM_004369.3(COL6A3):c.9123G>A (p.Thr3041=) rs61729843
NM_004369.3(COL6A3):c.9213C>T (p.His3071=) rs2270671
NM_004369.3(COL6A3):c.9411T>C (p.Cys3137=) rs112290343
NM_004369.4(COL6A3):c.4156G>A rs146092501
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=) rs35648048
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459
NM_004447.6(EPS8):c.104A>G (p.His35Arg) rs71532816
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr) rs78763451
NM_004447.6(EPS8):c.2283T>G (p.Asp761Glu) rs7137185
NM_004452.3(ESRRB):c.1366T>C (p.Phe456Leu) rs188462546
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633
NM_004463.3(FGD1):c.1617G>A (p.Pro539=) rs151184308
NM_004463.3(FGD1):c.2268C>T (p.Cys756=) rs61734178
NM_004463.3(FGD1):c.2568C>T (p.Tyr856=) rs61734179
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) rs78731303
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265
NM_004541.4(NDUFA1):c.141G>C (p.Leu47=) rs140064980
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900
NM_004560.4(ROR2):c.937+10C>T rs201083970
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) rs2230488
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077
NM_004595.5(SMS):c.569C>T (p.Thr190Ile) rs201275730
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004646.3(NPHS1):c.563A>T (p.Asn188Ile) rs145125791
NM_004715.4(CTDP1):c.213G>C (p.Gly71=) rs201234471
NM_004737.6(LARGE1):c.-31G>A rs117199378
NM_004737.6(LARGE1):c.1008T>C (p.Asp336=) rs115076367
NM_004737.6(LARGE1):c.1452-28C>T rs76647066
NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) rs34292743
NM_004737.6(LARGE1):c.1644C>T (p.Asn548=) rs113253213
NM_004737.6(LARGE1):c.1731-24T>C rs73399532
NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) rs74550830
NM_004737.6(LARGE1):c.1827A>G (p.Ser609=) rs11913417
NM_004737.6(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520
NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) rs1046166
NM_004737.6(LARGE1):c.2100C>T (p.Asn700=) rs17722172
NM_004737.6(LARGE1):c.251G>C (p.Ser84Thr) rs398124184
NM_004737.6(LARGE1):c.309C>T (p.Ser103=) rs59349720
NM_004737.6(LARGE1):c.435C>T (p.Ala145=) rs86487
NM_004737.6(LARGE1):c.576C>T (p.Pro192=) rs36002910
NM_004737.6(LARGE1):c.892+50C>T rs62225294
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) rs75450131
NM_004817.4(TJP2):c.2992-8C>T rs143965233
NM_004817.4(TJP2):c.3342T>C (p.His1114=) rs61753629
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) rs150883816
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300
NM_004937.3(CTNS):c.462-7C>A rs189632527
NM_004992.3(MECP2):c.378-17del rs61753982
NM_004999.4(MYO6):c.1224-4A>G rs144031818
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=) rs201900751
NM_005045.4(RELN):c.-24_-22GGC[4] rs55656324
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831
NM_005045.4(RELN):c.1290-11dup rs146986040
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536
NM_005045.4(RELN):c.26A>C (p.Gln9Pro) rs115165703
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691
NM_005045.4(RELN):c.3712A>C (p.Asn1238His) rs114003896
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu) rs55689103
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015
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.578-3T>C rs607755
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864
NM_005045.4(RELN):c.8120-9T>C rs74952625
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862
NM_005045.4(RELN):c.8843+7G>C rs2711885
NM_005045.4(RELN):c.906C>T (p.Ala302=) rs114494558
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.736-8A>C rs62609586
NM_005216.4(DDOST):c.762C>T (p.Arg254=) rs34189097
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714
NM_005333.5(HCCS):c.216G>C (p.Ala72=) rs144152239
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875
NM_005359.6(SMAD4):c.455-6A>G rs181178864
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477
NM_005422.2(TECTA):c.1812C>T (p.Ser604=) rs138914618
NM_005422.2(TECTA):c.1834G>A (p.Asp612Asn) rs143730090
NM_005445.3(SMC3):c.2007T>C (p.Tyr669=) rs147404470
NM_005445.3(SMC3):c.255A>G (p.Ser85=) rs146433240
NM_005445.3(SMC3):c.548-5_548-4dup rs199906378
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882
NM_005477.3(HCN4):c.1978+3G>T rs113112855
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val) rs141901178
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser) rs148593258
NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met) rs139043074
NM_005591.3(MRE11):c.121G>A (p.Asp41Asn) rs116679717
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005603.6(ATP8B1):c.189A>G (p.Thr63=) rs35377845
NM_005603.6(ATP8B1):c.2442G>T (p.Lys814Asn) rs34018300
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005634.2(SOX3):c.711_731del (p.Ala242_Ala248del) rs776775669
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) rs141361861
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn) rs116373583
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284
NM_005710.2(PQBP1):c.180-3C>T rs741932
NM_005710.2(PQBP1):c.264G>A (p.Ser88=) rs398124212
NM_005751.4(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691
NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr) rs79708790
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697
NM_005957.4(MTHFR):c.1959G>A (p.Thr653=) rs45572531
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349
NM_006005.3(WFS1):c.461-9A>G rs10010131
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213
NM_006005.3(WFS1):c.712+16G>A rs71524367
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875
NM_006013.4(RPL10):c.23+9T>A rs2070820
NM_006017.3(PROM1):c.2374-5dup rs34269395
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569
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.720+17T>C rs9982233
NM_006031.6(PCNT):c.7914-16C>T rs2839257
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540
NM_006037.3(HDAC4):c.2356G>A (p.Ala786Thr) rs61754648
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser) rs869457
NM_006059.4(LAMC3):c.1630+5C>G rs184221540
NM_006059.4(LAMC3):c.219T>G (p.His73Gln) rs3739512
NM_006059.4(LAMC3):c.3347C>G (p.Ala1116Gly) rs36028197
NM_006059.4(LAMC3):c.3624G>A (p.Glu1208=) rs569440839
NM_006059.4(LAMC3):c.3927+8C>G rs148008251
NM_006059.4(LAMC3):c.4068G>A (p.Ala1356=) rs377618961
NM_006059.4(LAMC3):c.521_522delinsAG (p.Pro174Gln) rs386738954
NM_006059.4(LAMC3):c.75C>T (p.Cys25=) rs13286358
NM_006059.4(LAMC3):c.92G>T (p.Arg31Leu) rs116259120
NM_006086.4(TUBB3):c.167-5C>G rs147928399
NM_006158.4(NEFL):c.1170-13T>C rs76347846
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869
NM_006269.2(RP1):c.382C>A (p.Leu128Ile) rs147116231
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006269.2(RP1):c.616-6T>C rs186571865
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr) rs148261231
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187
NM_006359.3(SLC9A6):c.1366+8G>A rs6654310
NM_006359.3(SLC9A6):c.1607G>A (p.Arg536Gln) rs146263125
NM_006359.3(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_006383.4(CIB2):c.448G>A (p.Asp150Asn) rs141932061
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His) rs114156788
NM_006416.5(SLC35A1):c.887-14T>C rs56136150
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975
NM_006432.4(NPC2):c.442-4A>C rs114950106
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006493.4(CLN5):c.-144C>T rs77416795
NM_006493.4(CLN5):c.-76A>G rs7987664
NM_006493.4(CLN5):c.173+8C>T rs9565308
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209
NM_006514.3(SCN10A):c.1453C>T (p.Arg485Cys) rs151153639
NM_006516.3(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205
NM_006516.3(SLC2A1):c.27G>A (p.Thr9=) rs34025424
NM_006516.3(SLC2A1):c.417C>T (p.Phe139=) rs144538918
NM_006517.5(SLC16A2):c.-114_-109GGCAGC[2] rs760787234
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715
NM_006731.2(FKTN):c.1045-40C>A rs145883833
NM_006731.2(FKTN):c.106-10G>A rs148384394
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006731.2(FKTN):c.910+14G>A rs76180538
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035
NM_006765.4(TUSC3):c.309-6T>C rs1035972
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892
NM_006790.2(MYOT):c.1008G>T (p.Val336=) rs142828368
NM_006790.2(MYOT):c.1190+7T>C rs192405601
NM_006790.2(MYOT):c.149A>G (p.Gln50Arg) rs34717730
NM_006790.2(MYOT):c.240C>T (p.Asn80=) rs529067126
NM_006790.2(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006790.2(MYOT):c.617G>A (p.Gly206Asp) rs151094883
NM_006790.2(MYOT):c.630G>A (p.Ser210=) rs375308029
NM_006790.2(MYOT):c.822T>C (p.Ser274=) rs138678049
NM_006796.2(AFG3L2):c.1389G>A (p.Leu463=) rs11080572
NM_006883.2(SHOX):c.63C>T (p.Gly21=) rs142306835
NM_006899.5(IDH3B):c.117+6C>A rs191680997
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384
NM_006949.4(STXBP2):c.795-4C>T rs151257815
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=) rs587781024
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640
NM_007078.3(LDB3):c.690-4823G>A rs121908338
NM_007078.3(LDB3):c.896+6669TC[12] rs71019410
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007214.5(SEC63):c.340-12_340-7delinsCCC rs1554237221
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC rs1554237221
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1189-10del rs3739205
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg) rs61736946
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300
NM_012222.2(MUTYH):c.1440C>T (p.Thr480=) rs150269172
NM_012222.2(MUTYH):c.1592G>A (p.Arg531Gln) rs3219497
NM_012254.3(SLC27A5):c.2006C>G (p.Ala669Gly) rs145618122
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) rs146012909
NM_012418.4(FSCN2):c.984-7C>T rs139335460
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143
NM_012470.3(TNPO3):c.-9G>A rs201636723
NM_012470.3(TNPO3):c.2274-10del rs539653012
NM_012470.3(TNPO3):c.2280T>C (p.Ile760=) rs142359170
NM_012470.3(TNPO3):c.2431-6A>C rs190759031
NM_012470.3(TNPO3):c.2652C>T (p.Thr884=) rs149434536
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153
NM_013382.5(POMT2):c.1007-32G>A rs79509556
NM_013382.5(POMT2):c.1262G>A (p.Arg421Gln) rs151078549
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.1683T>C (p.Asn561=) rs146307965
NM_013382.5(POMT2):c.1891+49C>T rs61990292
NM_013382.5(POMT2):c.652G>A (p.Asp218Asn) rs140785104
NM_013382.5(POMT2):c.924-10C>T rs142122657
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420
NM_013382.7(POMT2):c.1654-6A>G rs4540995
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys) rs143790434
NM_014008.5(CCDC22):c.747= (p.Gln249=) rs2294020
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047
NM_014112.5(TRPS1):c.1195C>T (p.Leu399Phe) rs147432147
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.5(AIPL1):c.277-10A>C rs12453262
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929
NM_014425.5(INVS):c.1980A>G (p.Gly660=) rs139314036
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508
NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln)
NM_014491.4(FOXP2):c.483A>G (p.Gln161=) rs62640396
NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del) rs398124272
NM_014491.4(FOXP2):c.552A>G (p.Gln184=) rs146945410
NM_014639.3(TTC37):c.3079G>A (p.Gly1027Ser) rs188952987
NM_014639.3(TTC37):c.3940G>A (p.Glu1314Lys) rs74664147
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=) rs34890427
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val) rs139191491
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) rs142271930
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689
NM_014920.4(CILK1):c.534C>T (p.Ser178=) rs543243399
NM_014920.4(CILK1):c.831+5del rs200780900
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899
NM_015074.3(KIF1B):c.1977+6956A>G rs148481786
NM_015102.5(NPHP4):c.1442-7C>T rs146078470
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) rs147831309
NM_015120.4(ALMS1):c.9889A>G (p.Thr3297Ala) rs58806616
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=) rs143189638
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_015295.2(SMCHD1):c.1419A>G (p.Glu473=) rs117771893
NM_015295.2(SMCHD1):c.1956+7C>T rs145755468
NM_015295.2(SMCHD1):c.2147-7C>T rs113524119
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) rs79796143
NM_015340.4(LARS2):c.2307C>T (p.Ser769=) rs143838895
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273
NM_015537.4(NSMF):c.1461C>T (p.Phe487=) rs139341268
NM_015560.2(OPA1):c.1884A>G (p.Val628=) rs73069703
NM_015560.2(OPA1):c.2796C>T (p.Arg932=) rs35540805
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033
NM_015636.3(EIF2B4):c.913C>G (p.Arg305Gly) rs78599355
NM_015697.8(COQ2):c.196G>T (p.Val66Leu) rs6818847
NM_015697.8(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_015909.4(NBAS):c.5090G>T (p.Arg1697Leu) rs145318018
NM_015909.4(NBAS):c.6790G>C (p.Asp2264His) rs145372749
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867
NM_016120.4(RLIM):c.777G>A (p.Thr259=) rs148132680
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) rs79230542
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) rs188485743
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172
NM_016239.4(MYO15A):c.3999C>T (p.Ala1333=) rs192570479
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu) rs147791304
NM_016616.5(NME8):c.271-3T>C rs191137504
NM_017433.5(MYO3A):c.2133G>A (p.Leu711=) rs56147819
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608
NM_017534.6(MYH2):c.2106C>T (p.Asn702=) rs145039915
NM_017534.6(MYH2):c.2304+7T>G rs370223713
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=) rs184725551
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.236-13T>C rs150578902
NM_017739.3(POMGNT1):c.301G>A (p.Val101Ile) rs150576537
NM_017739.3(POMGNT1):c.681A>G (p.Lys227=) rs2292487
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075
NM_017882.3(CLN6):c.298-6C>T rs117038427
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017890.4(VPS13B):c.10127A>T (p.Asn3376Ile) rs111353525
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11256A>G (p.Arg3752=) rs138667007
NM_017890.4(VPS13B):c.11694G>C (p.Val3898=) rs113454700
NM_017890.4(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_017890.4(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3667-7C>T rs35543295
NM_017890.4(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266
NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) rs139640224
NM_017890.4(VPS13B):c.7038A>G (p.Val2346=) rs61753724
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.7413T>C (p.Phe2471=) rs150771329
NM_017890.4(VPS13B):c.7751T>C (p.Val2584Ala) rs7833870
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.8246A>G (p.Tyr2749Cys) rs138453594
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9405+9A>G rs184381851
NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) rs36074608
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017946.4(FKBP14):c.495G>A (p.Lys165=) rs142474407
NM_017950.4(CCDC40):c.180G>A (p.Ala60=) rs185006459
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191
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_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys) rs112113370
NM_018136.5(ASPM):c.10331+8A>G rs10754213
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys) rs143294539
NM_018136.5(ASPM):c.2174-20T>C rs4915344
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val) rs552158003
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209
NM_018136.5(ASPM):c.441+14C>T rs1571964
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=) rs140248383
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=) rs78315399
NM_018136.5(ASPM):c.844A>C (p.Asn282His) rs113777932
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr) rs77736715
NM_018136.5(ASPM):c.9444+8T>G rs140150599
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527
NM_018328.4(MBD5):c.1368G>T (p.Ser456=) rs146020786
NM_018328.4(MBD5):c.1638C>T (p.Ala546=) rs116413446
NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn) rs114314967
NM_018328.4(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) rs143028540
NM_018328.4(MBD5):c.3243T>A (p.Gly1081=) rs115816749
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389
NM_018668.4(VPS33B):c.842C>G (p.Ala281Gly) rs115308854
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.208-5A>G rs11765434
NM_018848.3(MKKS):c.117C>T (p.Pro39=) rs16991547
NM_018848.3(MKKS):c.534C>T (p.Ile178=) rs17852625
NM_018941.3(CLN8):c.11C>T (p.Ala4Val) rs147181589
NM_018941.3(CLN8):c.274C>T (p.His92Tyr) rs34030778
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_018965.3(TREM2):c.185G>A (p.Arg62His) rs143332484
NM_018965.3(TREM2):c.469C>T (p.His157Tyr) rs2234255
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263
NM_019032.5(ADAMTSL4):c.2969C>T (p.Thr990Met) rs139784416
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile) rs2233070
NM_019066.5(MAGEL2):c.383T>C (p.Leu128Pro) rs191559595
NM_019098.4(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831
NM_020066.5(FMN2):c.1352T>A (p.Leu451Gln) rs145379416
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) rs145750007
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927
NM_020247.5(COQ8A):c.618G>A (p.Val206=) rs115855910
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) rs17853192
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819
NM_020365.5(EIF2B3):c.1202+8T>G rs77068026
NM_020365.5(EIF2B3):c.149-4A>G rs72887005
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=) rs11556200
NM_020366.3(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080
NM_020451.3(SELENON):c.747+39C>T rs114458946
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542
NM_020549.4(CHAT):c.1372C>T (p.Leu458Phe) rs76014951
NM_020549.4(CHAT):c.141C>G (p.Asp47Glu) rs3810948
NM_020549.4(CHAT):c.2067C>T (p.Ile689=) rs3793801
NM_020631.5(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455
NM_020686.6(ABAT):c.816+7C>A rs376046736
NM_020717.3(SHROOM4):c.3168T>C (p.Arg1056=) rs61753881
NM_020717.3(SHROOM4):c.3468A>G (p.Glu1156=) rs3747282
NM_020717.3(SHROOM4):c.3734C>T (p.Ser1245Leu) rs12689863
NM_020751.3(COG6):c.1693-6A>T rs78336861
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_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097
NM_020785.2(CC2D2A):c.230-6C>T rs1861049
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895
NM_020822.3(KCNT1):c.2944-52CTCC[8] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
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.3312G>A (p.Leu1104=) rs149416418
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575
NM_020956.2(PRX):c.*2248C>T rs56743160
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958
NM_021072.4(HCN1):c.1797A>G (p.Ser599=) rs148932124
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323
NM_021116.4(ADCY1):c.2327+6T>A rs75860455
NM_021140.3(KDM6A):c.3678T>C (p.His1226=) rs138989066
NM_021167.5(GATAD1):c.558G>A (p.Thr186=) rs141932124
NM_021625.4(TRPV4):c.1824+4C>T rs147259744
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021728.4(OTX2):c.*10G>A rs171978
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674
NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=) rs11905235
NM_022095.4(ZNF335):c.642C>T (p.Ser214=) rs3848719
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494
NM_022124.6(CDH23):c.6713-8G>A rs369946986
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu) rs876657422
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=) rs148743086
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158
NM_022124.6(CDH23):c.9077+7C>T rs76114420
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022132.5(MCCC2):c.1574+37C>G rs138725621
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030
NM_022455.4(NSD1):c.1149C>T (p.Ile383=) rs34921128
NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe) rs115722008
NM_022455.4(NSD1):c.2835T>C (p.Ser945=) rs145987330
NM_022455.4(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006
NM_022455.4(NSD1):c.339C>T (p.Cys113=) rs77093936
NM_022455.4(NSD1):c.480C>T (p.Asp160=) rs79427433
NM_022455.4(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.4(NSD1):c.6829T>C (p.Leu2277=) rs28580074
NM_022455.4(NSD1):c.760C>T (p.Leu254Phe) rs149334244
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022455.4(NSD1):c.7908C>T (p.Leu2636=) rs143159630
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498
NM_022970.3(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_022970.3(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_022970.3(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) rs570168701
NM_023073.3(CPLANE1):c.1125A>G (p.Pro375=) rs61745362
NM_023073.3(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.5738-6C>T rs148634159
NM_023073.3(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149
NM_023073.3(CPLANE1):c.8124C>T (p.Asp2708=) rs114126795
NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) rs140382957
NM_023110.2(FGFR1):c.336C>T (p.Thr112=) rs148480919
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370
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.2686_2687dup (p.Ala897fs) rs200056085
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661
NM_024529.4(CDC73):c.-4dup rs545666726
NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) rs1432793
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=) rs142858644
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991
NM_024596.5(MCPH1):c.2215-19A>G rs2936531
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024649.5(BBS1):c.831-5C>T rs56177555
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.1383C>T (p.Thr461=) rs45516107
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312
NM_024747.5(HPS6):c.698T>G (p.Leu233Arg) rs36078476
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936
NM_024757.5(EHMT1):c.3375-9A>C rs73578877
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) rs35570782
NM_024757.5(EHMT1):c.824-5_824-3del rs34385417
NM_024809.5(TCTN2):c.1393+7C>T rs7298440