ClinVar Miner

Variants with conflicting interpretations "benign" from Athena Diagnostics Inc and "likely benign" from any submitter

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2730
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HGVS dbSNP
NC_012920.1(MT-CO1):m.6260G>A rs201395766
NC_012920.1(MT-CO1):m.6261G>A rs201262114
NC_012920.1(MT-ND1):m.3849G>A rs878853081
NC_012920.1:m.5951A>G rs7340122
NC_012920.1:m.6071T>C rs7340086
NM_000023.4(SGCA):c.37+23G>A rs79410682
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.4(ADSL):c.358-4G>A rs113199851
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
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.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.657T>C (p.Cys219=) rs2235003
NM_000051.3(ATM):c.7224G>A (p.Ser2408=) rs145747513
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000054.6(AVPR2):c.740G>A (p.Arg247His) rs149668713
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
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.606T>C (p.Ser202=) rs17593
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587
NM_000083.3(CLCN1):c.2284+5C>T rs74824159
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000085.4(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847
NM_000085.4(CLCNKB):c.577-5C>T rs1889788
NM_000086.2(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000088.3(COL1A1):c.1638C>T (p.Ser546=) rs146450504
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1983+9G>C rs201091992
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2236-17C>G rs193922146
NM_000088.3(COL1A1):c.2613+13C>T rs368380161
NM_000088.3(COL1A1):c.2668-12A>G rs200355573
NM_000088.3(COL1A1):c.299-15C>T rs199523510
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.2349+16G>C rs112603291
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000091.4(COL4A3):c.1398T>C (p.Asp466=) rs145833114
NM_000091.4(COL4A3):c.222G>T (p.Pro74=) rs187950806
NM_000091.4(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.4380T>C (p.Cys1460=) rs114430490
NM_000091.4(COL4A3):c.4665G>A (p.Ala1555=) rs200858199
NM_000091.4(COL4A3):c.4707A>T (p.Pro1569=) rs113401495
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2907A>C (p.Ser969=) rs116354015
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.5(COL4A4):c.3963T>C (p.Asp1321=) rs116124529
NM_000110.4(DPYD):c.2180-3T>C rs74104343
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318
NM_000142.4(FGFR3):c.1959+8C>T rs371666188
NM_000142.4(FGFR3):c.930+10C>T rs534857289
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356
NM_000142.5(FGFR3):c.2259C>T (p.Thr753=) rs146662137
NM_000144.5(FXN):c.179G>A (p.Arg60His) rs141858334
NM_000144.5(FXN):c.226A>G (p.Met76Val) rs59907886
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000162.5(GCK):c.*11C>T rs200698755
NM_000162.5(GCK):c.1019+18G>A rs150914617
NM_000162.5(GCK):c.209-8G>A rs144798843
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000162.5(GCK):c.364-18A>G rs191255582
NM_000162.5(GCK):c.46-12C>T rs142829768
NM_000162.5(GCK):c.483+14A>G rs74852379
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047
NM_000207.3(INS):c.*9C>T rs3842752
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000209.4(PDX1):c.6C>T (p.Asn2=) rs146936598
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910
NM_000231.2(SGCG):c.435C>T (p.Asn145=) rs35628352
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.3153-4C>T rs181119727
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000267.3(NF1):c.655-29T>C rs182325576
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078
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_000288.4(PEX7):c.339+10A>G rs374668045
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419
NM_000306.4(POU1F1):c.666-5G>A rs76296626
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=) rs760067411
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=) rs181494727
NM_000334.4(SCN4A):c.1947C>T (p.Ile649=) rs564134251
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=) rs80266947
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271
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.2748C>G (p.Asn916Lys) rs115379510
NM_000334.4(SCN4A):c.2854-5C>T rs374039266
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) rs138670794
NM_000334.4(SCN4A):c.3285C>T (p.Asn1095=) rs371401377
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4410G>A (p.Thr1470=) rs534861830
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=) rs201411232
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960
NM_000334.4(SCN4A):c.969G>A (p.Thr323=) rs1429424012
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118
NM_000335.5(SCN5A):c.954C>T (p.Asn318=) rs372623225
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917
NM_000337.5(SGCD):c.144G>C (p.Val48=) rs372152495
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.507G>A (p.Ala169=) rs10071079
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000338.3(SLC12A1):c.3096+7A>T rs200662267
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000356.4(TCOF1):c.3819G>A (p.Ser1273=) rs114169102
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.889G>T (p.Ala297Ser) rs112039991
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
NM_000360.4(TH):c.1200+9C>T rs11564717
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.5(TSC1):c.3324C>T rs35593170
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000383.4(AIRE):c.1095+6G>A rs1800525
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773
NM_000426.3(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726
NM_000426.3(LAMA2):c.2430A>C (p.Pro810=) rs147572139
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.4470C>T (p.Asp1490=) rs35089085
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
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.5909G>C (p.Cys1970Ser) rs148451013
NM_000426.3(LAMA2):c.6150T>C (p.Asp2050=) rs114766691
NM_000426.3(LAMA2):c.6429+8C>A rs199773264
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.8548-10T>C rs113644365
NM_000426.3(LAMA2):c.9123C>T (p.Val3041=) rs61749497
NM_000426.4(LAMA2):c.1586G>A rs370691060
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620
NM_000435.3(NOTCH3):c.1036+10C>T rs776962888
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012
NM_000435.3(NOTCH3):c.1725G>C (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1840+8C>T rs372100017
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=) rs141993521
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile) rs34338511
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg) rs141956294
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp) rs888391580
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403
NM_000435.3(NOTCH3):c.4858C>T (p.Leu1620=) rs144401090
NM_000435.3(NOTCH3):c.4869G>C (p.Pro1623=) rs148574670
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000435.3(NOTCH3):c.5114+10C>G rs369547319
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=) rs374875084
NM_000435.3(NOTCH3):c.5895G>A (p.Lys1965=) rs140567100
NM_000435.3(NOTCH3):c.591C>T (p.Pro197=) rs367943979
NM_000435.3(NOTCH3):c.6024G>A (p.Pro2008=) rs766274305
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183
NM_000435.3(NOTCH3):c.6300G>A (p.Ser2100=) rs183839795
NM_000435.3(NOTCH3):c.6747C>T (p.Pro2249=) rs769454994
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016
NM_000451.3(SHOX):c.864G>A (p.Glu288=) rs781656634
NM_000457.4(HNF4A):c.116-5C>T rs745975
NM_000457.4(HNF4A):c.1203C>T (p.Asn401=) rs61737145
NM_000457.4(HNF4A):c.492+6G>A rs182980547
NM_000457.4(HNF4A):c.810C>T (p.Asp270=) rs6031592
NM_000458.4(HNF1B):c.1045+12T>C rs141166864
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399
NM_000478.6(ALPL):c.330= (p.Ser110=) rs1780316
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000478.6(ALPL):c.744C>T (p.Asp248=) rs188689330
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.5(ATRX):c.2785= (p.Glu929=) rs3088074
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) rs61752769
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) rs5316
NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=) rs61751150
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891
NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) rs5215
NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) rs5218
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) rs5216
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467
NM_000530.8(MPZ):c.210C>T (p.Pro70=) rs545129173
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045
NM_000533.5(PLP1):c.-31C>T rs2233695
NM_000533.5(PLP1):c.168A>G (p.Gln56=) rs2233697
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.216G>T (p.Leu72=) rs113389877
NM_000540.2(RYR1):c.3972G>A (p.Ala1324=) rs200451188
NM_000540.2(RYR1):c.7615-7G>A rs146159174
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.8376G>A (p.Arg2792=) rs150388417
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486
NM_000545.6(HNF1A):c.1165T>G (p.Leu389Val) rs115080759
NM_000545.6(HNF1A):c.1323G>A (p.Thr441=) rs138996307
NM_000545.6(HNF1A):c.1375C>T (p.Leu459=) rs2259820
NM_000545.6(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196
NM_000545.6(HNF1A):c.1501+7G>A rs2464195
NM_000545.6(HNF1A):c.1545G>A (p.Thr515=) rs55834942
NM_000545.6(HNF1A):c.51C>G (p.Leu17=) rs1169289
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
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.1292C>T (p.Ala431Val) rs202187148
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044
NM_000548.5(TSC2):c.2639+10C>T rs137854378
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) rs200346578
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.5(TSC2):c.3883+8C>G rs45517316
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=) rs749057825
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.5(TSC2):c.4493+7C>A rs199943270
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) rs139507276
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000551.4(VHL):c.340+5G>C rs61758376
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766
NM_000722.4(CACNA2D1):c.1956-4del rs3083235
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917
NM_000722.4(CACNA2D1):c.2837-7A>G rs112176710
NM_000726.4(CACNB4):c.*4T>C rs556761275
NM_000726.4(CACNB4):c.1239G>A (p.Leu413=) rs1805028
NM_000726.4(CACNB4):c.1303-3T>C rs143442080
NM_000726.4(CACNB4):c.222A>T (p.Arg74=) rs553682728
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000726.4(CACNB4):c.54C>A (p.Pro18=) rs373222155
NM_000726.4(CACNB4):c.762T>A (p.Ile254=) rs61736804
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837
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.225C>T (p.Asp75=) rs113080067
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=) rs201488442
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.681C>A (p.Ala227=) rs45588436
NM_000744.7(CHRNA4):c.858C>T (p.Thr286=) rs121912257
NM_000744.7(CHRNA4):c.876C>T (p.Ile292=) rs139694653
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) rs71651693
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) rs71651692
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_000756.4(CRH):c.456G>A (p.Arg152=) rs144205489
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) rs75914945
NM_000834.4(GRIN2B):c.15G>A (p.Ala5=) rs34315573
NM_000834.4(GRIN2B):c.1665C>T (p.Ser555=) rs1805482
NM_000834.4(GRIN2B):c.228C>T (p.Thr76=) rs77299791
NM_000834.4(GRIN2B):c.2514C>T (p.Cys838=) rs3026160
NM_000834.4(GRIN2B):c.2691C>T (p.Asn897=) rs35125534
NM_000834.4(GRIN2B):c.3534C>T (p.His1178=) rs1806191
NM_000834.4(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903
NM_000834.4(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200
NM_000834.4(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012
NM_000834.4(GRIN2B):c.4197T>C (p.His1399=) rs1805247
NM_000834.4(GRIN2B):c.504C>A (p.Ile168=) rs36031537
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201
NM_000891.2(KCNJ2):c.1200G>A (p.Thr400=) rs201253055
NM_001002295.2(GATA3):c.573C>T (p.Pro191=) rs35508267
NM_001003679.3(LEPR):c.1029T>C (p.Ser343=) rs1805134
NM_001003679.3(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001005360.2(DNM2):c.162-7C>A rs148318860
NM_001005360.2(DNM2):c.1836C>T (p.Asp612=) rs767061986
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met) rs748286191
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) rs2229919
NM_001005360.2(DNM2):c.2061G>A (p.Thr687=) rs149164657
NM_001005360.2(DNM2):c.2201A>G (p.Asn734Ser) rs577767034
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=) rs373161548
NM_001005360.2(DNM2):c.386-6T>A rs114623441
NM_001005360.2(DNM2):c.519T>C (p.Ala173=) rs77702567
NM_001005360.2(DNM2):c.876G>A (p.Ser292=) rs749140605
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920
NM_001007792.1(NTRK1):c.1800G>A (p.Ala600=) rs17838192
NM_001007792.1(NTRK1):c.2164G>A (p.Ala722Thr) rs62640939
NM_001007792.1(NTRK1):c.2231G>A (p.Arg744Gln) rs35669708
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) rs41298498
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val) rs141946034
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277
NM_001009944.3(PKD1):c.12139-5C>T rs146430229
NM_001009944.3(PKD1):c.182C>T (p.Pro61Leu) rs886038369
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe) rs370141157
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=) rs115772084
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857
NM_001039523.3(CHRNA1):c.615+4G>C rs112674580
NM_001039523.3(CHRNA1):c.718G>A (p.Asp240Asn) rs148304857
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574
NM_001040142.2(SCN2A):c.387-10G>A rs2304015
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566
NM_001042492.3(NF1):c.7321+19_7321+22del rs528866152
NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu) rs35579086
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630
NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn) rs112563569
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524
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.986+9A>G rs202095070
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_001080476.2(GRXCR1):c.272G>T (p.Gly91Val) rs113203706
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001083961.2(WDR62):c.2334-6C>A rs138928852
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=) rs118175551
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746
NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met) rs202025804
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.966T>C (p.Asp322=) rs142998298
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001101.5(ACTB):c.1044G>A (p.Ser348=) rs13447409
NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) rs199526404
NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) rs150830358
NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.836-9del rs3839757
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864
NM_001112741.1(KCNC1):c.1236C>T (p.Ser412=) rs73424033
NM_001112741.1(KCNC1):c.933C>T (p.Arg311=) rs76882721
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=) rs377458008
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786
NM_001127222.2(CACNA1A):c.1668+7G>A rs567507041
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=) rs376641545
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016
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.2737_2739delinsTCT (p.Pro913Ser) rs886043758
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024
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.3309C>T (p.Pro1103=) rs374749004
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=) rs370541345
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=) rs201230929
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030
NM_001127222.2(CACNA1A):c.4089+5_4089+6del rs368911651
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=) rs199854716
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=) rs373678557
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=) rs750338421
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) rs200093958
NM_001127222.2(CACNA1A):c.6339+10G>C rs376238265
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.6468C>T (p.Arg2156=) rs745336852
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) rs745609731
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127222.2(CACNA1A):c.784+10C>T rs781363787
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028
NM_001127713.1(ATL1):c.1173C>T (p.His391=) rs149340140
NM_001127713.1(ATL1):c.351G>A (p.Glu117=) rs1060197
NM_001127713.1(ATL1):c.669C>T (p.Tyr223=) rs146975855
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001130987.2(DYSF):c.1380+6G>C rs75796187
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=) rs141476432
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=) rs145143725
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499
NM_001134407.3(GRIN2A):c.1329-8C>T rs7193290
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_001134407.3(GRIN2A):c.306C>T (p.Asp102=) rs200850130
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_001135022.2(ELMOD3):c.549C>T (p.Thr183=) rs115378987
NM_001136473.1(LITAF):c.27G>A (p.Ala9=) rs149518815
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_001142771.2(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_001145026.2(PTPRQ):c.1285C>G (p.Gln429Glu) rs61729287
NM_001145308.4(LRTOMT):c.623G>A (p.Arg208Gln) rs61741195
NM_001145308.4(LRTOMT):c.69G>C (p.Leu23=) rs12272086
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) rs189243324
NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) rs113350364
NM_001146261.2(SYT14):c.1203A>G (p.Glu401=) rs376509952
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val) rs143511445
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873
NM_001159699.2(FHL1):c.204+5C>T rs182106777
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_001164617.2(GPC3):c.1236-8T>C rs182950534
NM_001164617.2(GPC3):c.1354G>A (p.Val452Met) rs11539789
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271
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.4557G>A (p.Pro1519=) rs368785509
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=) rs35732838
NM_001166114.2(PNPLA6):c.2385C>T (p.His795=) rs143914980
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=) rs138837774
NM_001166114.2(PNPLA6):c.4060C>T (p.Leu1354=) rs150392453
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162
NM_001168272.1(ITPR1):c.4428C>T (p.Ile1476=) rs192863290
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val) rs141705330
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001193466.2(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.2(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001193466.2(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879
NM_001193466.2(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_001193466.2(KANSL1):c.727C>A (p.Gln243Lys) rs142096969
NM_001193466.2(KANSL1):c.773T>C (p.Leu258Ser) rs145714368
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.596G>A (p.Arg199His) rs150886026
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971
NM_001195553.2(DCX):c.948A>C (p.Ala316=) rs770799939
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841
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.885C>G (p.Phe295Leu) rs72768728
NM_001199799.2(ILDR1):c.726G>A (p.Ala242=) rs114464909
NM_001242897.2(DEPDC5):c.1389C>T (p.Asp463=) rs188147862
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001244710.1(GFPT1):c.147T>C (p.Asp49=) rs2230300
NM_001256317.3(TMPRSS3):c.1306G>A (p.Val436Ile) rs114904237
NM_001256545.2(MEGF10):c.1002C>T (p.His334=) rs142947482
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812
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.101803A>G (p.Ile33935Val) rs56376197
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.102271C>T (p.Arg34091Trp) rs140319117
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.103147G>C (p.Glu34383Gln) rs148525155
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240
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.105228G>A (p.Ser35076=) rs55938627
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe) rs794729250
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=) rs542575761
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.11254+2T>C rs199565715
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) rs201129413
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066
NM_001267550.2(TTN):c.12955G>A (p.Ala4319Thr) rs150137596
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) rs199560188
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=) rs370604524
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=) rs373875040
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851
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.15542G>C (p.Gly5181Ala) rs201185434
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842
NM_001267550.2(TTN):c.15906C>T (p.Val5302=) rs375179152
NM_001267550.2(TTN):c.16055-9A>C rs368897883
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) rs371026448
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939
NM_001267550.2(TTN):c.16621+7A>T rs10200398
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495
NM_001267550.2(TTN):c.177C>T (p.Ser59=) rs191057824
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) rs370684491
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=) rs373842558
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798
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.21106G>A (p.Asp7036Asn) rs72648962
NM_001267550.2(TTN):c.21404-4A>G rs72648965
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.22080T>C (p.Asp7360=) rs16866473
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) rs374879942
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983
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.25209T>C (p.Asp8403=) rs569860898
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=) rs372802604
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu) rs200049911
NM_001267550.2(TTN):c.289G>A (p.Val97Met) rs185921345
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298
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.2949C>T (p.Ile983=) rs56310516
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=) rs375408527
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028
NM_001267550.2(TTN):c.32555-6T>C rs375742678
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032
NM_001267550.2(TTN):c.32807-10T>A rs138192315
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.33742+8C>T rs375939001
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val) rs190209925
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.34845C>T (p.Pro11615=) rs368781863
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285
NM_001267550.2(TTN):c.37722T>C (p.Val12574=) rs377422414
NM_001267550.2(TTN):c.38708-4T>C rs200819643
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser) rs150223722
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.39709+6C>T rs72650067
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40634-9A>G rs373511249
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563
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.44548+9A>G rs372725070
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) rs72677221
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980
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.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=) rs192953152
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His) rs72677245
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) rs532589236
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809
NM_001267550.2(TTN):c.54812-5A>G rs375343798
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333
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.58612A>G (p.Thr19538Ala) rs200017524
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406
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.60232G>A (p.Val20078Met) rs77351975
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872
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.64789G>A (p.Val21597Met) rs150661999
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=) rs187378247
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg) rs202125813
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=) rs12615797
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) rs201836227
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) rs397517684
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) rs181702963
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
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.71036G>A (p.Arg23679Lys) rs200144345
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527
NM_001267550.2(TTN):c.75192T>C (p.Thr25064=) rs370480927
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp) rs200287703
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909
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.78674T>C (p.Ile26225Thr) rs12463674
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746
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.81105C>A (p.Thr27035=) rs72648212
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) rs199670463
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314
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.82797C>T (p.Gly27599=) rs72648216
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His) rs775499341
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn) rs189202799
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885
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.91347T>C (p.Asp30449=) rs193022702
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886
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.91884A>T (p.Arg30628Ser) rs144922355
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.92901C>T (p.Ser30967=) rs11694623
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=) rs373182578
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
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_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=) rs141018126
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=) rs79219767
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=) rs781108294
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
NM_001271208.2(NEB):c.11769T>C (p.Ile3923=) rs80320923
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16911A>G (p.Pro5637=) rs33988153
NM_001271208.2(NEB):c.177G>A (p.Gln59=) rs200990309
NM_001271208.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.19311C>T (p.Ser6437=) rs16830216
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.1981C>T (p.Leu661=) rs146460133
NM_001271208.2(NEB):c.21624C>T (p.Ser7208=) rs16830170
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.24313-7C>T rs113048349
NM_001271208.2(NEB):c.24538G>C (p.Ala8180Pro) rs7575451
NM_001271208.2(NEB):c.2640C>T (p.Arg880=) rs114959904
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.3636C>T (p.Asp1212=) rs144376972
NM_001271208.2(NEB):c.3775-6T>C rs80232472
NM_001271208.2(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613
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.5370G>A (p.Glu1790=) rs10170273
NM_001271208.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_001271208.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_001271208.2(NEB):c.612+8T>C rs113095802
NM_001271208.2(NEB):c.6807+6T>G rs10930723
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
NM_001271208.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_001271208.2(NEB):c.8466C>T (p.His2822=) rs61730771
NM_001271208.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162
NM_001277269.1(OTOG):c.1032+9C>A rs147843540
NM_001277269.1(OTOG):c.1833G>A (p.Arg611=) rs73418068
NM_001277269.1(OTOG):c.2134G>A (p.Ala712Thr) rs113745835
NM_001277269.1(OTOG):c.3132C>T (p.Asn1044=) rs75133799
NM_001277269.1(OTOG):c.328+10A>T rs141597314
NM_001277269.1(OTOG):c.3325-8C>G rs12792504
NM_001277269.1(OTOG):c.5271C>A (p.Leu1757=) rs193083374
NM_001277269.1(OTOG):c.7861C>A (p.Gln2621Lys) rs61995750
NM_001277269.1(OTOG):c.8578-8C>T rs182750732
NM_001277269.2(OTOG):c.[4642C>T] rs117380920
NM_001277269.2(OTOG):c.[8526G>C] rs61997203
NM_001278064.2(GRM1):c.1433+10T>C rs373538200
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492
NM_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp) rs145764886
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864
NM_001278064.2(GRM1):c.3206C>T (p.Pro1069Leu) rs79336287
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala) rs146753539
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491
NM_001278064.2(GRM1):c.922G>A (p.Val308Ile) rs112915383
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) rs139654605
NM_001286445.3(RIPOR2):c.114G>C (p.Ser38=) rs2295197
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=) rs145837095
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys) rs145166802
NM_001286445.3(RIPOR2):c.715+8T>C rs35730227
NM_001287174.2(ABCC8):c.2117-3C>T rs1799854
NM_001287174.2(ABCC8):c.2823+17A>G rs2106865
NM_001287174.2(ABCC8):c.579+14C>T rs2301703
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
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.2421C>T (p.Asn807=) rs115211871
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) rs201886024
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) rs75275592
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953
NM_001330260.2(SCN8A):c.928+9C>T rs148027656
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916
NM_001347721.2(DYRK1A):c.489+9A>G rs187936450
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277
NM_001354604.2(MITF):c.880+9C>G rs181810413
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203
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.174G>A (p.Gln58=) rs6432901
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
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.3362G>A (p.Arg1121Gln) rs74401238
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=) rs111932993
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154
NM_001365999.1(SZT2):c.5517C>T (p.Arg1839=) rs147753139
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557
NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=) rs60480887
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476
NM_001365999.1(SZT2):c.759G>A (p.Ser253=) rs1889586
NM_001367561.1(DOCK7):c.1047C>T (p.Val349=) rs139793443
NM_001367721.1(CASK):c.2040-9A>G rs138290714
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=) rs372511563
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=) rs140154194
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.5(DYNC1H1):c.4075-6C>T rs377411812
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) rs112811548
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187
NM_001458.4(FLNC):c.2390-9T>C rs368068407
NM_001458.4(FLNC):c.3838C>T (p.Leu1280=) rs34180031
NM_001458.4(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717
NM_001458.4(FLNC):c.597C>T (p.Ala199=) rs143942649
NM_001458.4(FLNC):c.6175G>A (p.Val2059Met) rs201333104
NM_001458.4(FLNC):c.8118C>T (p.Leu2706=) rs28379666
NM_001458.4(FLNC):c.8121T>C (p.Ile2707=) rs28437296
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775
NM_001540.5(HSPB1):c.240A>G (p.Gln80=) rs377246178
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001843.4(CNTN1):c.1401T>C (p.Gly467=) rs61759480
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn) rs34326474
NM_001843.4(CNTN1):c.401-9C>T rs57340925
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001848.2(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
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.2599C>T (p.Arg867Trp) rs144484744
NM_001849.3(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.714+9C>T rs78822624
NM_001851.5(COL9A1):c.876+6T>C rs73473595
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.1870+9T>C rs139929272
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg) rs142066316
NM_001853.4(COL9A3):c.1896C>T (p.Asp632=) rs74830351
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln) rs139573483
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202
NM_001888.5(CRYM):c.807T>C (p.Phe269=) rs144588424
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549
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.792C>T (p.Asp264=) rs150370918
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558
NM_001958.4(EEF1A2):c.1266C>A (p.Gly422=) rs202102758
NM_001958.4(EEF1A2):c.1296G>A (p.Thr432=) rs200259257
NM_001958.4(EEF1A2):c.54C>G (p.Ser18=) rs200759764
NM_001961.4(EEF2):c.1151-7C>T rs200181170
NM_001961.4(EEF2):c.1470C>T (p.His490=) rs201757568
NM_001961.4(EEF2):c.1632T>C (p.His544=) rs36526
NM_001961.4(EEF2):c.1908C>G (p.Ala636=) rs139427550
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=) rs36527
NM_001961.4(EEF2):c.2415C>T (p.Gly805=) rs143122141
NM_001961.4(EEF2):c.2496C>T (p.Ser832=) rs147759681
NM_001961.4(EEF2):c.444C>T (p.Ala148=) rs369366647
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.4(GARS1):c.144C>T (p.Ala48=) rs754360926
NM_002047.4(GARS1):c.1614-4G>A rs376324026
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483
NM_002047.4(GARS1):c.51G>A (p.Leu17=) rs202117737
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012
NM_002087.3(GRN):c.1742A>T (p.Asp581Val) rs768223928
NM_002087.3(GRN):c.264+7G>A rs60100877
NM_002087.3(GRN):c.546G>A (p.Thr182=) rs138473783
NM_002087.3(GRN):c.705C>A (p.Pro235=) rs148507354
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002160.4(TNC):c.2620A>G (p.Ile874Val) rs61737743
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022
NM_002206.3(ITGA7):c.2433-5G>A rs79745402
NM_002206.3(ITGA7):c.285G>T (p.Pro95=) rs17854601
NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=) rs17117879
NM_002222.6(ITPR1):c.1404C>T (p.Phe468=) rs192247062
NM_002222.6(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_002222.6(ITPR1):c.1962G>A (p.Lys654=) rs2306875
NM_002222.6(ITPR1):c.2181G>A (p.Ala727=) rs41289636
NM_002222.6(ITPR1):c.2682G>A (p.Lys894=) rs187516662
NM_002222.6(ITPR1):c.3588G>A (p.Ala1196=) rs199960483
NM_002222.6(ITPR1):c.3597G>A (p.Val1199=) rs201263269
NM_002222.6(ITPR1):c.3849C>T (p.His1283=) rs61757108
NM_002222.6(ITPR1):c.4191C>G (p.His1397Gln) rs61757110
NM_002222.6(ITPR1):c.4771-8C>T rs41304179
NM_002222.6(ITPR1):c.4782C>T (p.Ser1594=) rs373127487
NM_002222.6(ITPR1):c.5088G>A (p.Ser1696=) rs368425885
NM_002222.6(ITPR1):c.5277C>T (p.Asn1759=) rs113368815
NM_002222.6(ITPR1):c.5432T>G (p.Val1811Gly) rs143093165
NM_002222.6(ITPR1):c.5502T>C (p.Asp1834=) rs371661663
NM_002222.6(ITPR1):c.5958C>T (p.Thr1986=) rs144178989
NM_002222.6(ITPR1):c.6159C>T (p.Asn2053=) rs182891619
NM_002222.6(ITPR1):c.6258C>T (p.Asn2086=) rs202123078
NM_002222.6(ITPR1):c.6507A>G (p.Lys2169=) rs34491089
NM_002222.6(ITPR1):c.6528A>G (p.Thr2176=) rs13079522
NM_002222.6(ITPR1):c.66G>A (p.Ser22=) rs112944532
NM_002222.6(ITPR1):c.6723G>A (p.Pro2241=) rs200426774
NM_002222.6(ITPR1):c.6865C>T (p.Leu2289=) rs2291862
NM_002222.6(ITPR1):c.6909C>T (p.Gly2303=) rs41290672
NM_002222.6(ITPR1):c.7317C>T (p.Ser2439=) rs375227391
NM_002222.6(ITPR1):c.7446T>C (p.Thr2482=) rs711631
NM_002222.6(ITPR1):c.7500G>A (p.Lys2500=) rs901854
NM_002222.6(ITPR1):c.7797C>T (p.Thr2599=) rs368405302
NM_002222.6(ITPR1):c.789C>T (p.Phe263=) rs369681244
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691
NM_002296.4(LBR):c.837+4C>T rs538103502
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442
NM_002335.4(LRP5):c.4788C>T (p.Thr1596=) rs113442867
NM_002473.5(MYH9):c.165C>T (p.Ile55=) rs141948797
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile) rs41303733
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=) rs146588152
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746
NM_002578.5(PAK3):c.483A>G (p.Ala161=) rs146801179
NM_002693.2(POLG):c.134A>G (p.Gln45Arg) rs201016638
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.3561G>C (p.Arg1187=) rs62640037
NM_002693.2(POLG):c.3597C>A (p.Thr1199=) rs2307443
NM_002693.2(POLG):c.3644-9A>G rs115048121
NM_002693.2(POLG):c.852C>T (p.Ile284=) rs41540414
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.1871G>A (p.Arg624Gln) rs146367309
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362
NM_002764.3(PRPS1):c.705-6C>T rs199740956
NM_002775.5(HTRA1):c.879C>T (p.Thr293=) rs149294320
NM_002906.3(RDX):c.1059A>G (p.Gln353=) rs139953187
NM_002968.2(SALL1):c.379G>C (p.Val127Leu) rs138635817
NM_002968.2(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562
NM_003000.2(SDHB):c.158G>A (p.Gly53Glu) rs34916635
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=) rs35450949
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889
NM_003119.4(SPG7):c.1324+10C>T rs202070075
NM_003165.4(STXBP1):c.1320C>T (p.Ile440=) rs370249358
NM_003165.4(STXBP1):c.281C>T (p.Pro94Leu) rs200802985
NM_003165.4(STXBP1):c.325+8C>T rs117372398
NM_003165.4(STXBP1):c.38-3T>C rs138763389
NM_003165.4(STXBP1):c.627C>T (p.Leu209=) rs567071026
NM_003165.4(STXBP1):c.6C>T (p.Ala2=) rs144094037
NM_003165.4(STXBP1):c.846C>T (p.Asp282=) rs58889246
NM_003165.4(STXBP1):c.888C>T (p.Ile296=) rs201302013
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532
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.14193G>A (p.Glu4731=) rs368920289
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.2847G>A (p.Pro949=) rs369436545
NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) rs200369026
NM_003482.3(KMT2D):c.6477C>T (p.Leu2159=) rs774164988
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.7188T>C (p.Cys2396=) rs111305262
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) rs140758033
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) rs148700620
NM_003611.3(OFD1):c.*3A>G rs183202009
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003672.4(CDC14A):c.819C>G (p.Ala273=) rs28364884
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741
NM_003680.3(YARS1):c.1008G>A (p.Leu336=) rs140232925
NM_003680.3(YARS1):c.63T>C (p.Val21=) rs138749370
NM_003793.4(CTSF):c.1158C>T (p.Asn386=) rs116329758
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660
NM_003850.2(SUCLA2):c.256A>G (p.Ile86Val) rs61756204
NM_003863.3(DPM2):c.64A>G (p.Thr22Ala) rs7042788
NM_003895.3(SYNJ1):c.123G>A (p.Ala41=) rs61750221
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=) rs149309844
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys) rs140226523
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358
NM_003919.3(SGCE):c.1253+814G>A rs183951730
NM_003919.3(SGCE):c.391-3T>C rs17166384
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004006.2(DMD):c.10262+1G>A rs145603325
NM_004006.2(DMD):c.1028G>A (p.Arg343His) rs61733589
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.2971G>C (p.Glu991Gln) rs72468667
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004006.2(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593
NM_004006.2(DMD):c.7472A>G (p.Gln2491Arg) rs147694734
NM_004006.3(DMD):c.1503A>G (p.Glu501=) rs770464589
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
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.7397T>C (p.Met2466Thr) rs764330616
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264
NM_004070.4(CLCNKA):c.1005C>T (p.Leu335=) rs143253425
NM_004070.4(CLCNKA):c.2055T>C (p.Ala685=) rs371202740
NM_004082.4(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383
NM_004082.4(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp) rs61759484
NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del) rs756693906
NM_004098.4(EMX2):c.591+6T>C rs202171958
NM_004115.3(FGF14):c.123C>T (p.Asn41=) rs372705140
NM_004115.3(FGF14):c.124G>T (p.Gly42Cys) rs141304687
NM_004115.3(FGF14):c.373A>G (p.Ile125Val) rs34073982
NM_004172.5(SLC1A3):c.1434C>G (p.Leu478=) rs778865549
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=) rs150357327
NM_004172.5(SLC1A3):c.168C>T (p.Thr56=) rs751614772
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp) rs2032892
NM_004187.4(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004187.4(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882
NM_004230.4(S1PR2):c.857T>C (p.Val286Ala) rs117064827
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004287.4(GOSR2):c.*1823C>T rs142261376
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922
NM_004320.5(ATP2A1):c.1167C>T (p.Tyr389=) rs41292388
NM_004320.5(ATP2A1):c.663C>G (p.Gly221=) rs113803159
NM_004320.5(ATP2A1):c.870C>T (p.Arg290=) rs201786788
NM_004321.7(KIF1A):c.1476A>G (p.Pro492=) rs35663732
NM_004321.7(KIF1A):c.183+7C>T rs74469870
NM_004321.7(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_004321.7(KIF1A):c.234C>T (p.Gly78=) rs61744930
NM_004321.7(KIF1A):c.2358C>T (p.Ala786=) rs62637652
NM_004321.7(KIF1A):c.2418-8C>T rs200705912
NM_004321.7(KIF1A):c.2676C>T (p.Ala892=) rs116297894
NM_004321.7(KIF1A):c.2899+10C>A rs190997558
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004321.7(KIF1A):c.3549T>C (p.His1183=) rs184931664
NM_004321.7(KIF1A):c.4016-8C>T rs1529663
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4441-5C>T rs117815481
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
NM_004321.7(KIF1A):c.4572G>A (p.Pro1524=) rs201418175
NM_004321.7(KIF1A):c.4614G>A (p.Leu1538=) rs187810230
NM_004321.7(KIF1A):c.4767G>A (p.Thr1589=) rs201733233
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.1791C>T (p.Phe597=) rs76576170
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.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.7995A>C (p.Ala2665=) rs80193928
NM_004369.3(COL6A3):c.8451A>G (p.Pro2817=) rs61729844
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.9069C>T (p.Thr3023=) rs111234422
NM_004369.3(COL6A3):c.9123G>A (p.Thr3041=) rs61729843
NM_004369.3(COL6A3):c.9411T>C (p.Cys3137=) rs112290343
NM_004369.4(COL6A3):c.4156G>A rs146092501
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961
NM_004393.6(DAG1):c.286-10del rs747305463
NM_004447.6(EPS8):c.60-33TTA[8] rs201331879
NM_004452.3(ESRRB):c.1237G>A (p.Val413Ile) rs146351534
NM_004463.3(FGD1):c.2619C>T (p.Phe873=) rs375328916
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) rs78731303
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081
NM_004526.4(MCM2):c.2370C>T (p.Asp790=) rs143447982
NM_004568.5(SERPINB6):c.457G>A (p.Gly153Ser) rs2295766
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077
NM_004614.5(TK2):c.231+10C>T rs187517309
NM_004621.6(TRPC6):c.1294-4G>A rs190191809
NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp) rs117273916
NM_004621.6(TRPC6):c.888G>A (p.Thr296=) rs144891994
NM_004637.5(RAB7A):c.87G>A (p.Val29=) rs145441548
NM_004646.3(NPHS1):c.1170+8G>A rs140808195
NM_004646.3(NPHS1):c.1638T>G (p.Thr546=) rs115444936
NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=) rs189541861
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys) rs149571533
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173
NM_004733.4(SLC33A1):c.750A>G (p.Gln250=) rs15594
NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) rs34292743
NM_004737.6(LARGE1):c.163A>G (p.Thr55Ala) rs34642406
NM_004737.6(LARGE1):c.1644C>T (p.Asn548=) rs113253213
NM_004737.6(LARGE1):c.165G>C (p.Thr55=) rs63446460
NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) rs74550830
NM_004737.6(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520
NM_004737.6(LARGE1):c.435C>T (p.Ala145=) rs86487
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004817.4(TJP2):c.1091C>T (p.Thr364Met) rs77321498
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615
NM_004817.4(TJP2):c.2646G>A (p.Ala882=) rs11788754
NM_004817.4(TJP2):c.2778C>T (p.Asp926=) rs140442228
NM_004817.4(TJP2):c.297G>A (p.Ser99=) rs72709079
NM_004863.3(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708
NM_004895.4(NLRP3):c.1395C>T (p.His465=) rs111400208
NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys) rs139833874
NM_004895.4(NLRP3):c.936C>T (p.Asp312=) rs143840033
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met) rs141727248
NM_004960.3(FUS):c.1541+9_1541+10del rs761850706
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup) rs72550890
NM_004977.2(KCNC3):c.123G>T (p.Gln41His) rs185017345
NM_004977.2(KCNC3):c.579C>G (p.Arg193=) rs138237939
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly) rs549394447
NM_004980.4(KCND3):c.1062C>A (p.Ile354=) rs150934088
NM_004980.4(KCND3):c.1106+10C>T rs377267051
NM_004980.4(KCND3):c.1573A>G (p.Met525Val) rs145890206
NM_004980.4(KCND3):c.1959C>T (p.Ser653=) rs147087785
NM_004980.4(KCND3):c.459G>A (p.Ser153=) rs755206508
NM_004980.4(KCND3):c.633G>T (p.Pro211=) rs35131566
NM_004984.4(KIF5A):c.1293+9G>A rs201749114
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) rs117670788
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678
NM_004984.4(KIF5A):c.2538+8T>G rs377005699
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349
NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=) rs138437852
NM_005045.4(RELN):c.1377G>A (p.Arg459=) rs73712207
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240
NM_005045.4(RELN):c.474-7T>C rs55693709
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.6078C>T (p.Asn2026=) rs79610081
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038
NM_005045.4(RELN):c.6671+8T>C rs362758
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043
NM_005045.4(RELN):c.7086C>T (p.Thr2362=) rs362747
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746
NM_005045.4(RELN):c.77C>T (p.Ala26Val) rs144557847
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862
NM_005045.4(RELN):c.8843+7G>C rs2711885
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=) rs149683345
NM_005198.4(CHKB):c.216C>T (p.Tyr72=) rs80067609
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887
NM_005271.5(GLUD1):c.393C>G (p.Val131=) rs147496974
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) rs199823175
NM_005413.4(SIX3):c.219C>T (p.Pro73=) rs186163123
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477
NM_005422.2(TECTA):c.6250+4T>C rs143302176
NM_005445.3(SMC3):c.1671-6A>G rs200848781
NM_005445.3(SMC3):c.2268+4C>T rs587784426
NM_005445.3(SMC3):c.2329T>C (p.Leu777=) rs76625999
NM_005445.3(SMC3):c.3495T>A (p.Ala1165=) rs142395521
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882
NM_005477.3(HCN4):c.1656C>T (p.His552=) rs148142070
NM_005477.3(HCN4):c.1738-6C>T rs760763085
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689
NM_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881
NM_005529.7(HSPG2):c.11671+5G>A rs77527456
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=) rs141936971
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082
NM_005529.7(HSPG2):c.1998+9C>T rs377228309
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458
NM_005529.7(HSPG2):c.2850T>C (p.Pro950=) rs115322282
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His) rs62642521
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT rs386629395
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505
NM_005591.3(MRE11):c.1783+5G>C rs142082313
NM_005591.3(MRE11):c.2092A>G (p.Met698Val) rs1805362
NM_005591.3(MRE11):c.426C>T (p.Asp142=) rs3218740
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005619.5(RTN2):c.1143G>A (p.Ala381=) rs45532933
NM_005619.5(RTN2):c.1312C>T (p.Arg438Cys) rs148270789
NM_005619.5(RTN2):c.1593C>T (p.Ala531=) rs148630935
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933
NM_005629.4(SLC6A8):c.912+9G>A rs782694291
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) rs782517934
NM_005654.6(NR2F1):c.*9C>T rs202006298
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn) rs116373583
NM_005710.2(PQBP1):c.180-3C>T rs741932
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) rs34217273
NM_005881.4(BCKDK):c.845+10C>T rs74015068
NM_005910.5(MAPT):c.762G>A (p.Lys254=) rs141636979
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
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.226+10C>T rs199717430
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875
NM_006009.4(TUBA1A):c.966C>T (p.Asp322=) rs142641191
NM_006012.4(CLPP):c.368-8G>A rs143053584
NM_006012.4(CLPP):c.801G>A (p.Ala267=) rs112620134
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_006279.5(ST3GAL3):c.1075C>T (p.Leu359=) rs200457973
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044
NM_006279.5(ST3GAL3):c.892-9G>A rs80055718
NM_006359.3(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_006420.3(ARFGEF2):c.1275C>T (p.His425=) rs117131028
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006493.4(CLN5):c.-87C>T rs200353554
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_006516.3(SLC2A1):c.1005C>G (p.Thr335=) rs763664146
NM_006516.3(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.3(SLC2A1):c.1155C>T (p.Pro385=) rs76860965
NM_006516.3(SLC2A1):c.1437C>T (p.Pro479=) rs146879902
NM_006516.3(SLC2A1):c.27G>A (p.Thr9=) rs34025424
NM_006516.3(SLC2A1):c.417C>T (p.Phe139=) rs144538918
NM_006731.2(FKTN):c.106-10G>A rs148384394
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477
NM_006790.2(MYOT):c.1190+7T>C rs192405601
NM_006790.2(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_006790.2(MYOT):c.445G>C (p.Glu149Gln) rs71578935
NM_006790.2(MYOT):c.571G>C (p.Gly191Arg) rs199789331
NM_006790.2(MYOT):c.822T>C (p.Ser274=) rs138678049
NM_006790.2(MYOT):c.981T>C (p.Asn327=) rs148479015
NM_006796.2(AFG3L2):c.1866G>A (p.Leu622=) rs777264204
NM_006796.2(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021
NM_006796.2(AFG3L2):c.98A>C (p.Gln33Pro) rs777868371
NM_006796.3(AFG3L2):c.1479G>A (p.Pro493=) rs761143170
NM_006883.2(SHOX):c.633+3540G>A rs746391025
NM_006883.2(SHOX):c.63C>T (p.Gly21=) rs142306835
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=) rs72870766
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288
NM_006946.3(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918
NM_006946.3(SPTBN2):c.157+5G>A rs150159444
NM_006946.3(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321
NM_006946.3(SPTBN2):c.2064C>T (p.Gly688=) rs376219874
NM_006946.3(SPTBN2):c.2262C>T (p.Ala754=) rs368022952
NM_006946.3(SPTBN2):c.2771C>A (p.Pro924Gln) rs147327184
NM_006946.3(SPTBN2):c.2817-8G>T rs142540439
NM_006946.3(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028
NM_006946.3(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890
NM_006946.3(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210
NM_006946.3(SPTBN2):c.3804G>A (p.Gln1268=) rs143537378
NM_006946.3(SPTBN2):c.3963A>G (p.Ala1321=) rs142480868
NM_006946.3(SPTBN2):c.4485C>T (p.Arg1495=) rs145930414
NM_006946.3(SPTBN2):c.5314G>A (p.Val1772Met) rs200189497
NM_006946.3(SPTBN2):c.5658C>T (p.Ala1886=) rs199624385
NM_006946.3(SPTBN2):c.6798G>A (p.Ala2266=) rs140748364
NM_006946.3(SPTBN2):c.963C>T (p.Ile321=) rs1456985458
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636
NM_006950.3(SYN1):c.838-8T>G rs12394306
NM_006950.3(SYN1):c.912C>T (p.Ala304=) rs62636605
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656
NM_007078.3(LDB3):c.1014A>G (p.Thr338=) rs150209221
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.689+10G>A rs45563234
NM_007078.3(LDB3):c.690-4668T>C rs76615432
NM_007078.3(LDB3):c.690-4823G>A rs121908338
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007262.5(PARK7):c.234C>T (p.Gly78=) rs11548937
NM_007325.5(GRIA3):c.15G>A (p.Lys5=) rs61740996
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=) rs145176345
NM_007327.4(GRIN1):c.1467+8G>A rs10747050
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=) rs116006955
NM_007327.4(GRIN1):c.2241G>C (p.Val747=) rs116354349
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=) rs79570612
NM_007327.4(GRIN1):c.768G>C (p.Gly256=) rs141473515
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) rs6293
NM_007375.3(TARDBP):c.1098C>G (p.Ala366=) rs148325203
NM_007375.3(TARDBP):c.669C>G (p.Pro223=) rs149517613
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306
NM_012232.6(CAVIN1):c.927G>A (p.Ala309=) rs112332573
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys) rs114901298
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) rs73959261
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=) rs140929274
NM_012301.4(MAGI2):c.1014G>A (p.Lys338=) rs3735442
NM_012301.4(MAGI2):c.219C>T (p.Pro73=) rs148240352
NM_012301.4(MAGI2):c.2329T>C (p.Leu777=) rs76346657
NM_012301.4(MAGI2):c.2379C>T (p.Leu793=) rs73703715
NM_012301.4(MAGI2):c.2784T>C (p.Asn928=) rs1009524
NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=) rs7812015
NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=) rs2074641
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) rs35029887
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe) rs35322815
NM_013382.5(POMT2):c.1262G>A (p.Arg421Gln) rs151078549
NM_013382.5(POMT2):c.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.1593G>A (p.Leu531=) rs147934334
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.2127G>A (p.Leu709=) rs138142899
NM_013382.5(POMT2):c.648C>T (p.Cys216=) rs147871747
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_013444.3(UBQLN2):c.1383G>A (p.Gly461=) rs142250604
NM_013444.3(UBQLN2):c.1461C>A (p.Thr487=) rs45559331
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val) rs75248784
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys) rs61731011
NM_014254.3(RXYLT1):c.469G>A (p.Val157Ile) rs114036100
NM_014254.3(RXYLT1):c.825G>A (p.Thr275=) rs115076664
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=) rs138091242
NM_014467.3(SRPX2):c.840G>A (p.Ala280=) rs139377205
NM_014625.3(NPHS2):c.288C>T (p.Ser96=) rs3738423
NM_014625.3(NPHS2):c.59C>T (p.Pro20Leu) rs74315344
NM_014625.3(NPHS2):c.87C>G (p.Ala29=) rs12123397
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.627A>G (p.Leu209=) rs140111406
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_014846.4(WASHC5):c.732G>A (p.Pro244=) rs146320386
NM_014846.4(WASHC5):c.885G>A (p.Gly295=) rs1435894101
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622
NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) rs12069578
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1495+9C>T rs375494746
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) rs142271930
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449
NM_015046.7(SETX):c.2502A>G (p.Gly834=) rs762818441
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270
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.4660T>G (p.Cys1554Gly) rs112089123
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_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256
NM_015087.5(SPART):c.363C>T (p.Asp121=) rs149393698
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) rs28730852
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015192.4(PLCB1):c.1251-4T>G rs2076689
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434
NM_015192.4(PLCB1):c.2413+9C>T rs138442805
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299
NM_015192.4(PLCB1):c.99+8T>C rs6086350
NM_015295.2(SMCHD1):c.1419A>G (p.Glu473=) rs117771893
NM_015295.2(SMCHD1):c.1956+7C>T rs145755468
NM_015295.2(SMCHD1):c.2913+6C>G rs186678728
NM_015295.2(SMCHD1):c.424+10C>T rs201631086
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) rs116826217
NM_015340.4(LARS2):c.1622+8G>A rs202009605
NM_015340.4(LARS2):c.1692C>T (p.Ala564=) rs149911756
NM_015340.4(LARS2):c.255C>T (p.Tyr85=) rs114881088
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=) rs17104689
NM_015346.4(ZFYVE26):c.2332+7del rs145183291
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=) rs7143196
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr) rs112787369
NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=) rs7156492
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu) rs3742885
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val) rs3742884
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=) rs35018134
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser) rs3742883
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) rs151166497
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618
NM_015560.2(OPA1):c.1212+10T>C rs200114656
NM_015560.2(OPA1):c.1884A>G (p.Val628=) rs73069703
NM_015560.2(OPA1):c.2256G>T (p.Leu752=) rs148047706
NM_015560.2(OPA1):c.2427T>C (p.Leu809=) rs145999595
NM_015560.2(OPA1):c.2796C>T (p.Arg932=) rs35540805
NM_015560.2(OPA1):c.88C>T (p.Leu30=) rs185976555
NM_015634.4(KIFBP):c.1389A>C (p.Pro463=) rs114205227
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033
NM_015636.3(EIF2B4):c.369A>G (p.Gly123=) rs141872864
NM_015636.3(EIF2B4):c.913C>G (p.Arg305Gly) rs78599355
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) rs188485743
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=) rs146245515
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=) rs186426892
NM_016239.4(MYO15A):c.8811C>T (p.His2937=) rs200583193
NM_016341.4(PLCE1):c.513G>A (p.Val171=) rs61749239
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706
NM_016366.3(CABP2):c.280C>G (p.Arg94Gly) rs139895134
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463
NM_016373.4(WWOX):c.807C>T (p.Asn269=) rs62034095
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601
NM_016929.5(CLIC5):c.293C>A (p.Pro98His) rs35822882
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=) rs35541310
NM_017433.5(MYO3A):c.3408C>T (p.Phe1136=) rs61731629
NM_017433.5(MYO3A):c.3859C>A (p.Pro1287Thr) rs35575696
NM_017433.5(MYO3A):c.4250C>T (p.Thr1417Ile) rs34151474
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697
NM_017739.3(POMGNT1):c.1257G>A (p.Leu419=) rs41292143
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.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.298-6C>T rs117038427
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.11640A>G (p.Ser3880=) rs7844645
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
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.3667-7C>T rs35543295
NM_017890.4(VPS13B):c.3837C>T (p.Cys1279=) rs34941871
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.9405+10T>A rs75904081
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=) rs116134831
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.1855A>C (p.Ile619Leu) rs17851770
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018100.4(EFHC1):c.573+10A>G rs9349626
NM_018100.4(EFHC1):c.64-5T>C rs201860746
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183
NM_018109.3(MTPAP):c.1278T>C (p.Ser426=) rs147355590
NM_018109.3(MTPAP):c.158-9C>T rs139217290
NM_018109.3(MTPAP):c.585G>A (p.Lys195=) rs144945655
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804
NM_018129.4(PNPO):c.486C>G (p.Pro162=) rs35974730
NM_018136.5(ASPM):c.10331+8A>G rs10754213
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly) rs150327858
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=) rs115891952
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436
NM_018136.5(ASPM):c.9444+8T>G rs140150599
NM_018319.4(TDP1):c.774G>A (p.Ala258=) rs139270583
NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn) rs114314967
NM_018328.4(MBD5):c.276A>G (p.Ala92=) rs141855494
NM_018328.4(MBD5):c.3055-9T>C rs370173652
NM_018328.4(MBD5):c.3279C>T (p.Val1093=) rs35692977
NM_018429.3(BDP1):c.4578A>G (p.Ser1526=) rs199669834
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=) rs112133852
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389
NM_018451.5(CENPJ):c.175A>G (p.Thr59Ala) rs138732534
NM_018834.6(MATR3):c.1602+6A>G rs80036770
NM_018941.3(CLN8):c.274C>T (p.His92Tyr) rs34030778
NM_018941.3(CLN8):c.546G>A (p.Ala182=) rs144047076
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_018943.3(TUBA8):c.1057-7C>T rs2234338
NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys) rs115847686
NM_018943.3(TUBA8):c.324C>T (p.Tyr108=) rs2234327
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374
NM_020247.5(COQ8A):c.*9G>A rs200743857
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=) rs139570869
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.1188C>T (p.Asp396=) rs139133094
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=) rs141270350
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys) rs141725964
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr) rs150696959
NM_020247.5(COQ8A):c.618G>A (p.Val206=) rs115855910
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819
NM_020365.5(EIF2B3):c.149-4A>G rs72887005
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=) rs11556200
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080
NM_020451.3(SELENON):c.729G>A (p.Pro243=) rs139020143
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542
NM_020549.4(CHAT):c.438C>T (p.Tyr146=) rs61731734
NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) rs8178990
NM_020638.3(FGF23):c.583C>T (p.Pro195Ser) rs13312793
NM_020686.6(ABAT):c.1269+4A>C rs183947905
NM_020822.3(KCNT1):c.1338-3C>T rs369562243
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) rs150905302
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) rs374347802
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083
NM_020822.3(KCNT1):c.2943+6C>T rs28612938
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991
NM_020919.4(ALS2):c.1816-8C>T rs185911369
NM_020919.4(ALS2):c.3309T>C (p.His1103=) rs201920363
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*2850T>C rs268671
NM_020956.2(PRX):c.*3599G>A rs268674
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_020956.2(PRX):c.*4051G>A rs143289108
NM_020956.2(PRX):c.*936C>T rs118071705
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919
NM_020988.3(GNAO1):c.414A>G (p.Gln138=) rs141057479
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462
NM_021072.4(HCN1):c.1783+4C>T rs188586020
NM_021072.4(HCN1):c.1797A>G (p.Ser599=) rs148932124
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.2759C>T (p.Thr920Met) rs59052554
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=) rs201270662
NM_021625.4(TRPV4):c.1278G>A (p.Thr426=) rs139179261
NM_021625.4(TRPV4):c.1337G>T (p.Arg446Leu) rs143502097
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=) rs146929022
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) rs185933892
NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) rs35078611
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) rs148171058
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_021911.2(GABRB2):c.747A>T (p.Thr249=) rs145570974
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) rs201883464
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=) rs148743086
NM_022464.5(SIL1):c.1161G>A (p.Ala387=) rs140171020
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865
NM_022970.3(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_022970.3(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_023110.2(FGFR1):c.168G>A (p.Arg56=) rs147482922
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812
NM_024306.5(FA2H):c.271-8C>A rs199610820
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850
NM_024306.5(FA2H):c.847G>A (p.Val283Ile) rs138244546
NM_024334.3(TMEM43):c.*8C>T rs192707412
NM_024411.5(PDYN):c.106G>T (p.Gly36Cys) rs149056587
NM_024411.5(PDYN):c.121A>G (p.Asn41Asp) rs59191035
NM_024411.5(PDYN):c.575A>T (p.Glu192Val) rs45469293
NM_024411.5(PDYN):c.582C>T (p.Asp194=) rs769461186
NM_024411.5(PDYN):c.716G>A (p.Arg239Gln) rs185551108
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312
NM_024577.3(SH3TC2):c.1177+10G>A rs139257109
NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) rs140904010
NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) rs200665714
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
NM_024577.3(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069
NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600
NM_024589.2(ROGDI):c.117+10C>G rs113858060
NM_024589.2(ROGDI):c.414G>A (p.Thr138=) rs11553876
NM_024589.2(ROGDI):c.713G>A (p.Arg238His) rs138409264
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000
NM_024665.6(TBL1XR1):c.291A>G (p.Gln97=) rs61750379
NM_024665.6(TBL1XR1):c.669A>G (p.Pro223=) rs61750378
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=) rs2297995
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591
NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser) rs35710558
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.4(CEP290):c.251-10A>T rs190383141
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) rs200573434
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868
NM_025219.3(DNAJC5):c.107+10C>T rs181906972
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=) rs113207069
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804
NM_025243.4(SLC19A3):c.546G>A (p.Val182=) rs143188189
NM_030582.4(COL18A1):c.2657C>G (p.Pro886Arg) rs79980197
NM_030582.4(COL18A1):c.56C>T (p.Ala19Val) rs7277693
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr) rs370671656
NM_030665.4(RAI1):c.264G>A (p.Gln88=) rs61999281
NM_030665.4(RAI1):c.2728T>G (p.Ser910Ala) rs745515458
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.4526A>G (p.Gln1509Arg) rs140063274
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) rs200784979
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918
NM_031475.3(ESPN):c.702C>G (p.Ser234=) rs367944375
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=) rs147232928
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=) rs111518952
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) rs11537737
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) rs74327115
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=) rs16869083
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=) rs41311745
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) rs3763073
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918
NM_032119.4(ADGRV1):c.2241-10A>T rs150996234
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) rs41311333
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=) rs116446814
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302
NM_032119.4(ADGRV1):c.8730+9_8730+10del rs780180737
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) rs16869039
NM_032229.3(SLITRK6):c.1920A>G (p.Lys640=) rs17080144
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu) rs74591375
NM_032229.3(SLITRK6):c.73C>T (p.Leu25Phe) rs12863734
NM_032551.5(KISS1R):c.565G>A (p.Ala189Thr) rs73507527
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500
NM_032634.4(PIGO):c.714C>T (p.Gly238=) rs148186264
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) rs185341934
NM_032667.6(BSCL2):c.747C>T (p.Ile249=) rs200300686
NM_032737.4(LMNB2):c.402C>T (p.Ser134=) rs148213507
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497
NM_032737.4(LMNB2):c.804C>T (p.Asp268=) rs150969746
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=) rs142190930
NM_033056.4(PCDH15):c.3502-8C>T rs184144118
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) rs146111948
NM_033164.4(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) rs41289971
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.3(CAV3):c.-1G>A rs74377241
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573
NM_033641.4(COL4A6):c.528T>G (p.Pro176=) rs12390371
NM_052874.5(STX1B):c.837G>A (p.Ala279=) rs150313069
NM_057176.3(BSND):c.459C>T (p.Asp153=) rs138974602
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319
NM_058246.4(DNAJB6):c.860G>A (p.Arg287Gln) rs368078459
NM_058246.4(DNAJB6):c.899-6C>T rs78337193
NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro) rs147168661
NM_080647.1(TBX1):c.1353T>C (p.His451=) rs367711718
NM_080647.1(TBX1):c.492G>A (p.Pro164=) rs111754814
NM_080647.1(TBX1):c.567G>A (p.Thr189=) rs138724943
NM_080647.1(TBX1):c.813C>T (p.Thr271=) rs61730282
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792
NM_130837.3(OPA1):c.1293C>T (p.Thr431=)
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033
NM_133261.3(GIPC3):c.69G>A (p.Ala23=) rs150473323
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_139241.3(FGD4):c.1560C>T (p.Ile520=) rs61748364
NM_139241.3(FGD4):c.1659C>G (p.Ala553=) rs188104446
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) rs11568546
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683
NM_144612.6(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807
NM_144612.6(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529
NM_144612.6(LOXHD1):c.5127C>T (p.Gly1709=) rs373924055
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
NM_144612.6(LOXHD1):c.5503C>T (p.Leu1835=) rs202043044
NM_144696.6(AXDND1):c.3032-3225T>C rs3818587
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) rs199662641
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085
NM_145239.3(PRRT2):c.645C>T (p.Pro215=) rs183683129
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342
NM_152393.4(KLHL40):c.447C>T (p.Ala149=) rs138852341
NM_152743.4(BRAT1):c.1862G>A (p.Arg621Gln) rs138077616
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser) rs140451075
NM_152778.3(MFSD8):c.1041A>G (p.Val347=) rs148291156
NM_152778.3(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_153638.3(PANK2):c.276G>A (p.Arg92=) rs142832849
NM_153676.4(USH1C):c.2547-8A>G rs78509055
NM_153700.2(STRC):c.4917A>C (p.Leu1639=) rs2860666
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg) rs200770543
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031
NM_170682.4(P2RX2):c.1363G>A (p.Glu455Lys) rs199955493
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_172056.2(KCNH2):c.558C>T (p.Gly186=) rs139533994
NM_172056.2(KCNH2):c.621C>T (p.Ser207=) rs41314417
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366
NM_172244.3(SGCD):c.717C>G (p.Asp239Glu) rs180898690
NM_173354.5(SIK1):c.274-3del rs550878772
NM_173354.5(SIK1):c.951G>T (p.Val317=) rs113514102
NM_173500.4(TTBK2):c.1354G>A (p.Glu452Lys) rs527763642
NM_173500.4(TTBK2):c.1618C>T (p.Leu540=) rs369686818
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=) rs56307230
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val) rs180791005
NM_173591.3(OTOGL):c.4186T>C (p.Leu1396=) rs114661503
NM_173591.3(OTOGL):c.5571C>T (p.Cys1857=) rs61734095
NM_173591.3(OTOGL):c.6129C>T (p.Leu2043=) rs34323912
NM_173660.5(DOK7):c.1317C>T (p.Ser439=) rs16844467
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460
NM_175914.4(HNF4A):c.1017C>T (p.Phe339=) rs142268325
NM_175914.4(HNF4A):c.1176C>T (p.Asn392=) rs141448616
NM_175914.4(HNF4A):c.138G>A (p.Thr46=) rs145845882
NM_175914.4(HNF4A):c.224+17dup rs371937621
NM_175914.4(HNF4A):c.576C>T (p.Asp192=) rs759574096
NM_175914.4(HNF4A):c.669A>G (p.Leu223=) rs139591750
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123
NM_176787.5(PIGN):c.2577-13dup rs138671843
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=) rs1054332
NM_181458.4(PAX3):c.586+57A>G rs202175449
NM_182914.2(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186
NM_182914.2(SYNE2):c.11385G>A (p.Lys3795=) rs34954189
NM_182914.2(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205
NM_182914.2(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958
NM_182914.2(SYNE2):c.12122G>A (p.Arg4041His) rs17101661
NM_182914.2(SYNE2):c.12626T>C (p.Ile4209Thr) rs61747118
NM_182914.2(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513
NM_182914.2(SYNE2):c.13266G>A (p.Gln4422=) rs34944385
NM_182914.2(SYNE2):c.14430A>G (p.Thr4810=) rs34248042
NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398
NM_182914.2(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354
NM_182914.2(SYNE2):c.14776T>C (p.Leu4926=) rs8007874
NM_182914.2(SYNE2):c.15248A>G (p.Asp5083Gly) rs149617373
NM_182914.2(SYNE2):c.16305G>A (p.Leu5435=) rs116758464
NM_182914.2(SYNE2):c.16522T>A (p.Ser5508Thr) rs35190322
NM_182914.2(SYNE2):c.20596C>T (p.Leu6866=) rs141474837
NM_182914.2(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182914.2(SYNE2):c.2409C>A (p.Ser803=) rs17101525
NM_182914.2(SYNE2):c.3326G>A (p.Ser1109Asn) rs150464227
NM_182914.2(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697
NM_182914.2(SYNE2):c.4536A>G (p.Thr1512=) rs11158524
NM_182914.2(SYNE2):c.6880-5C>T rs187173455
NM_182914.2(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768
NM_182914.2(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465
NM_182914.2(SYNE2):c.7124T>C (p.Leu2375Pro) rs111902869
NM_182914.2(SYNE2):c.7128A>G (p.Pro2376=) rs117423703
NM_182914.2(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637
NM_182914.2(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894
NM_182914.2(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839
NM_182961.4(SYNE1):c.1047+4T>A rs9397106
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) rs115786671
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106
NM_182961.4(SYNE1):c.17346+7G>A rs9383985
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852
NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=) rs201090220
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile) rs35079654
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) rs138628147
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771
NM_182961.4(SYNE1):c.23461-6A>C rs145098375
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) rs141315921
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368
NM_182961.4(SYNE1):c.24952C>T (p.Le