NM_017696.3(MCM9):c.503G>A (p.Arg168Gln)
|
rs34665713
|
0.00058
|
NM_139343.3(BIN1):c.715G>A (p.Val239Ile)
|
rs146573197
|
0.00036
|
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser)
|
rs200840044
|
0.00034
|
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)
|
rs137889316
|
0.00034
|
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)
|
rs143820618
|
0.00034
|
NM_001231.5(CASQ1):c.1061C>T (p.Ala354Val)
|
rs147541452
|
0.00023
|
NM_018112.3(TMEM38B):c.662T>C (p.Ile221Thr)
|
rs201882609
|
0.00020
|
NM_033118.4(MYLK2):c.260C>T (p.Ala87Val)
|
rs121908107
|
0.00014
|
NM_001164508.2(NEB):c.11077-62A>G
|
rs951123465
|
0.00011
|
NM_025207.5(FLAD1):c.1610G>C (p.Cys537Ser)
|
rs143499209
|
0.00011
|
NM_000088.4(COL1A1):c.391C>A (p.Arg131=)
|
rs776611767
|
0.00010
|
NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile)
|
rs146873580
|
0.00010
|
NM_198576.4(AGRN):c.183G>C (p.Gln61His)
|
rs951245406
|
0.00010
|
NM_032806.6(POMGNT2):c.635A>G (p.Lys212Arg)
|
rs141665095
|
0.00009
|
NM_001042702.5(PJVK):c.946A>C (p.Asn316His)
|
rs776028922
|
0.00008
|
NM_001453.3(FOXC1):c.1337A>G (p.His446Arg)
|
rs1413102496
|
0.00007
|
NM_000094.4(COL7A1):c.4720C>T (p.Arg1574Trp)
|
rs773815805
|
0.00006
|
NM_001371279.1(REEP1):c.537C>T (p.Ser179=)
|
rs201564869
|
0.00005
|
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)
|
rs538521064
|
0.00005
|
NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr)
|
rs879253940
|
0.00005
|
NM_021971.4(GMPPB):c.160A>C (p.Ser54Arg)
|
rs145671483
|
0.00005
|
NM_000338.3(SLC12A1):c.2653T>C (p.Ser885Pro)
|
rs375157909
|
0.00004
|
NM_001256545.2(MEGF10):c.2873T>G (p.Leu958Arg)
|
rs768809701
|
0.00004
|
NM_001723.7(DST):c.3886A>G (p.Lys1296Glu)
|
rs771246306
|
0.00004
|
NM_000297.4(PKD2):c.2408G>A (p.Arg803Gln)
|
rs771211716
|
0.00003
|
NM_000540.3(RYR1):c.4003C>T (p.Arg1335Cys)
|
rs767382534
|
0.00003
|
NM_000829.4(GRIA4):c.104G>A (p.Arg35Gln)
|
rs762714307
|
0.00003
|
NM_001386298.1(CIC):c.6190G>A (p.Ala2064Thr)
|
rs148703020
|
0.00003
|
NM_001371986.1(UNC80):c.7415C>T (p.Thr2472Met)
|
rs753979355
|
0.00002
|
NM_002972.4(SBF1):c.4882G>A (p.Glu1628Lys)
|
rs377302977
|
0.00002
|
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg)
|
rs199633490
|
0.00002
|
NM_007078.3(LDB3):c.491C>T (p.Pro164Leu)
|
rs761907380
|
0.00002
|
NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser)
|
rs202056552
|
0.00002
|
NM_152713.5(STT3A):c.1310G>A (p.Arg437His)
|
rs776079118
|
0.00002
|
NM_153717.3(EVC):c.1776+5G>A
|
rs968001713
|
0.00002
|
NM_001148.6(ANK2):c.7000G>A (p.Ala2334Thr)
|
rs2095706081
|
0.00001
|
NM_001161352.2(KCNMA1):c.2282C>T (p.Pro761Leu)
|
rs771363378
|
0.00001
|
NM_001303256.3(MORC2):c.286C>G (p.Gln96Glu)
|
rs749060708
|
0.00001
|
NM_001353345.2(SETD1B):c.3878C>T (p.Ala1293Val)
|
rs1876485013
|
0.00001
|
NM_001393500.2(TOMT):c.400C>T (p.Arg134Cys)
|
rs1038978268
|
0.00001
|
NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr)
|
rs746183882
|
0.00001
|
NM_004369.4(COL6A3):c.6838C>A (p.Pro2280Thr)
|
rs779359869
|
0.00001
|
NM_005006.7(NDUFS1):c.2140G>A (p.Val714Ile)
|
rs771012852
|
0.00001
|
NM_014806.5(RUSC2):c.2626G>A (p.Glu876Lys)
|
rs1486315197
|
0.00001
|
NM_015330.6(SPECC1L):c.1195C>T (p.Arg399Trp)
|
rs2040735453
|
0.00001
|
NM_021254.4(CFAP298):c.160C>T (p.His54Tyr)
|
rs1389962473
|
0.00001
|
NM_022835.3(PLEKHG2):c.2188G>A (p.Ala730Thr)
|
rs140550857
|
0.00001
|
NM_025083.5(EDC3):c.778C>T (p.Arg260Trp)
|
rs748142645
|
0.00001
|
NM_138927.4(SON):c.2159C>G (p.Thr720Ser)
|
rs765797562
|
0.00001
|
NM_173076.3(ABCA12):c.2637C>T (p.Ser879=)
|
rs760070967
|
0.00001
|
NM_212482.4(FN1):c.4720G>A (p.Gly1574Arg)
|
rs764285223
|
0.00001
|
NM_000094.4(COL7A1):c.4678G>A (p.Gly1560Arg)
|
rs2044774392
|
|
NM_000124.4(ERCC6):c.652G>A (p.Glu218Lys)
|
rs2132631324
|
|
NM_000152.5(GAA):c.2452C>T (p.Leu818Phe)
|
|
|
NM_000284.4(PDHA1):c.1033_1035dup (p.Glu345_Ile346insGlu)
|
|
|
NM_000335.5(SCN5A):c.5656A>T (p.Ile1886Phe)
|
rs2125825137
|
|
NM_000426.4(LAMA2):c.1206G>C (p.Gly402=)
|
rs1167723109
|
|
NM_000546.6(TP53):c.1096T>C (p.Ser366Pro)
|
rs17881470
|
|
NM_000726.5(CACNB4):c.669G>A (p.Val223=)
|
rs2151408188
|
|
NM_000744.7(CHRNA4):c.245T>C (p.Met82Thr)
|
rs2068719750
|
|
NM_000796.6(DRD3):c.404C>A (p.Pro135His)
|
rs199862630
|
|
NM_000829.4(GRIA4):c.1237G>C (p.Glu413Gln)
|
rs2136164234
|
|
NM_000937.5(POLR2A):c.3773G>A (p.Arg1258His)
|
rs1480636825
|
|
NM_001005361.3(DNM2):c.1196+647G>T
|
rs2146025928
|
|
NM_001008537.3(NEXMIF):c.526A>T (p.Thr176Ser)
|
rs747231678
|
|
NM_001040142.2(SCN2A):c.2057G>T (p.Ser686Ile)
|
rs796053190
|
|
NM_001042681.2(RERE):c.3466G>T (p.Gly1156Trp)
|
rs766951273
|
|
NM_001079872.2(CUL4B):c.2652T>G (p.Asp884Glu)
|
rs768424127
|
|
NM_001080517.3(SETD5):c.3006A>T (p.Gly1002=)
|
rs2125579215
|
|
NM_001098816.3(TENM4):c.1199C>A (p.Pro400His)
|
|
|
NM_001135998.3(NDUFB11):c.2T>A (p.Met1Lys)
|
rs2147053636
|
|
NM_001135998.3(NDUFB11):c.83G>T (p.Arg28Leu)
|
rs1931955439
|
|
NM_001145358.2(SIN3A):c.3640G>A (p.Val1214Ile)
|
rs750796375
|
|
NM_001170535.3(ATAD3A):c.1006A>G (p.Arg336Gly)
|
rs1641700970
|
|
NM_001173467.3(SP7):c.1093C>T (p.Arg365Ter)
|
rs1427780619
|
|
NM_001184880.2(PCDH19):c.626C>A (p.Thr209Asn)
|
rs1928444379
|
|
NM_001190274.2(FBXO11):c.149A>G (p.Gln50Arg)
|
rs781277953
|
|
NM_001203.3(BMPR1B):c.71C>T (p.Thr24Ile)
|
rs912115035
|
|
NM_001244008.2(KIF1A):c.47A>G (p.Asn16Ser)
|
rs1435248246
|
|
NM_001267550.2(TTN):c.3635C>T (p.Ser1212Phe)
|
rs2154348242
|
|
NM_001267550.2(TTN):c.6884T>C (p.Ile2295Thr)
|
rs1561265332
|
|
NM_001330260.2(SCN8A):c.1460G>C (p.Ser487Thr)
|
|
|
NM_001354930.2(RIPK1):c.607G>T (p.Ala203Ser)
|
rs149432620
|
|
NM_001363118.2(SLC52A2):c.596C>T (p.Ala199Val)
|
rs2130642900
|
|
NM_001365276.2(TNXB):c.2747T>C (p.Val916Ala)
|
rs2127272436
|
|
NM_001365536.1(SCN9A):c.1465T>G (p.Ser489Ala)
|
rs1697749010
|
|
NM_001369268.1(ACAN):c.6535A>G (p.Thr2179Ala)
|
rs2141613132
|
|
NM_001371986.1(UNC80):c.416C>T (p.Ser139Phe)
|
rs1237674284
|
|
NM_001371986.1(UNC80):c.5132T>G (p.Val1711Gly)
|
|
|
NM_001371986.1(UNC80):c.9725C>A (p.Thr3242Asn)
|
rs1575264901
|
|
NM_001375380.1(EBF3):c.486-10T>G
|
rs2134611078
|
|
NM_001393769.1(MED12L):c.2611C>T (p.Leu871Phe)
|
rs2150052393
|
|
NM_001394062.1(MACF1):c.19924G>C (p.Glu6642Gln)
|
rs2148673732
|
|
NM_001457.4(FLNB):c.501C>A (p.Asp167Glu)
|
rs746892435
|
|
NM_001556.3(IKBKB):c.987G>A (p.Glu329=)
|
rs1402092076
|
|
NM_001605.3(AARS1):c.1786C>T (p.Pro596Ser)
|
rs780249378
|
|
NM_001999.4(FBN2):c.3200G>C (p.Gly1067Ala)
|
rs1751146734
|
|
NM_002860.4(ALDH18A1):c.1926A>G (p.Val642=)
|
rs2139530896
|
|
NM_003036.4(SKI):c.219G>A (p.Val73=)
|
rs1638568131
|
|
NM_003070.5(SMARCA2):c.4262G>A (p.Arg1421Gln)
|
rs1827027348
|
|
NM_003193.5(TBCE):c.155G>A (p.Ser52Asn)
|
rs2102857663
|
|
NM_003413.4(ZIC3):c.1010A>G (p.Lys337Arg)
|
rs1931371643
|
|
NM_003718.5(CDK13):c.[838C>T;839G>C]
|
|
|
NM_004068.4(AP2M1):c.911A>C (p.Lys304Thr)
|
rs2109031749
|
|
NM_004268.5(MED17):c.890C>G (p.Ala297Gly)
|
rs143018025
|
|
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter)
|
rs1835102166
|
|
NM_004637.6(RAB7A):c.544C>G (p.Leu182Val)
|
|
|
NM_004752.4(GCM2):c.60C>A (p.Ser20Arg)
|
|
|
NM_004817.4(TJP2):c.3484GAG[3] (p.Glu1165del)
|
rs746080083
|
|
NM_004855.5(PIGB):c.1016G>A (p.Arg339Gln)
|
rs749040766
|
|
NM_004984.4(KIF5A):c.1890G>C (p.Gln630His)
|
|
|
NM_005006.7(NDUFS1):c.184C>T (p.Arg62Ter)
|
rs2105978220
|
|
NM_005051.3(QARS1):c.1132C>G (p.Arg378Gly)
|
rs185476065
|
|
NM_005618.4(DLL1):c.1964G>A (p.Arg655Lys)
|
rs2114957465
|
|
NM_005619.5(RTN2):c.212G>T (p.Gly71Val)
|
|
|
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln)
|
rs759103361
|
|
NM_005909.5(MAP1B):c.742C>A (p.Pro248Thr)
|
rs1747089370
|
|
NM_006734.4(HIVEP2):c.1418A>T (p.Asp473Val)
|
rs2114660781
|
|
NM_006846.4(SPINK5):c.2891C>A (p.Ala964Glu)
|
rs1754449328
|
|
NM_006901.4(MYO9A):c.6476-7dup
|
rs574938131
|
|
NM_012452.3(TNFRSF13B):c.476A>T (p.Gln159Leu)
|
rs2143642404
|
|
NM_014168.4(METTL5):c.43C>T (p.Gln15Ter)
|
rs1247557050
|
|
NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met)
|
rs780468544
|
|
NM_014875.3(KIF14):c.3127C>T (p.His1043Tyr)
|
rs763872222
|
|
NM_015178.3(RHOBTB2):c.208C>T (p.Arg70Ter)
|
rs1215059455
|
|
NM_015443.4(KANSL1):c.1289+8G>C
|
rs767152233
|
|
NM_015570.4(AUTS2):c.1906A>G (p.Thr636Ala)
|
rs1790618973
|
|
NM_015570.4(AUTS2):c.2587G>T (p.Val863Leu)
|
rs1791761825
|
|
NM_017755.6(NSUN2):c.340G>A (p.Val114Ile)
|
rs2126513553
|
|
NM_017952.6(PTCD3):c.1551A>C (p.Lys517Asn)
|
|
|
NM_018063.5(HELLS):c.2077G>T (p.Asp693Tyr)
|
rs1845596397
|
|
NM_018341.3(ERMARD):c.1511del (p.Pro504fs)
|
rs1328981245
|
|
NM_020247.5(COQ8A):c.1054G>T (p.Gly352Cys)
|
rs536852535
|
|
NM_022168.4(IFIH1):c.32T>C (p.Phe11Ser)
|
rs1355798943
|
|
NM_022835.3(PLEKHG2):c.3272G>A (p.Gly1091Asp)
|
rs2146020906
|
|
NM_024496.4(IRF2BPL):c.1799C>T (p.Pro600Leu)
|
rs1885102913
|
|
NM_024700.4(SNIP1):c.1054C>G (p.Leu352Val)
|
rs1643118461
|
|
NM_024884.3(L2HGDH):c.947C>T (p.Thr316Ile)
|
rs2139977562
|
|
NM_025074.7(FRAS1):c.4556G>A (p.Arg1519Gln)
|
rs751175883
|
|
NM_031407.7(HUWE1):c.4461+96T>G
|
rs1020095850
|
|
NM_031448.6(C19orf12):c.268A>G (p.Asn90Asp)
|
rs1972180871
|
|
NM_032178.3(SLC7A6OS):c.709T>C (p.Tyr237His)
|
rs2151239071
|
|
NM_032242.4(PLXNA1):c.3020A>T (p.Asn1007Ile)
|
|
|
NM_033026.6(PCLO):c.1753C>T (p.Pro585Ser)
|
rs2116685195
|
|
NM_033337.3(CAV3):c.22G>A (p.Asp8Asn)
|
rs2124977121
|
|
NM_080476.5(PIGU):c.1194+3A>G
|
rs919805615
|
|
NM_134261.3(RORA):c.604A>G (p.Asn202Asp)
|
rs2141320009
|
|
NM_144773.4(PROKR2):c.818C>A (p.Thr273Lys)
|
rs779117079
|
|
NM_145868.2(ANXA11):c.904C>T (p.Arg302Cys)
|
rs142183550
|
|
NM_152641.4(ARID2):c.2230G>A (p.Val744Ile)
|
rs541063414
|
|
NM_153006.3(NAGS):c.56T>C (p.Leu19Pro)
|
rs1230176529
|
|
NM_153816.6(SNX14):c.295C>T (p.His99Tyr)
|
rs1795901647
|
|
NM_170606.3(KMT2C):c.4602G>T (p.Gln1534His)
|
rs992987667
|
|
NM_182710.3(KAT5):c.1264+3_1264+6del
|
rs781459819
|
|
NM_182961.4(SYNE1):c.16880T>C (p.Leu5627Pro)
|
rs2153836967
|
|
NM_182961.4(SYNE1):c.6724-3C>T
|
|
|
NM_183381.3(RNF13):c.950_951del (p.Ser317fs)
|
rs2108622490
|
|