NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000152.5(GAA):c.596A>G (p.His199Arg)
|
rs1042393
|
0.65667
|
NM_000152.5(GAA):c.547-4C>G
|
rs3816256
|
0.65665
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
NM_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_000257.4(MYH7):c.189C>T (p.Thr63=)
|
rs2069540
|
0.51584
|
NM_000257.4(MYH7):c.2967T>C (p.Ile989=)
|
rs7157716
|
0.43030
|
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
|
rs1801244
|
0.41941
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)
|
rs2229144
|
0.33092
|
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)
|
rs2960340
|
0.33086
|
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
|
rs2229146
|
0.32548
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)
|
rs2915952
|
0.32150
|
NM_000257.4(MYH7):c.732C>T (p.Phe244=)
|
rs2069542
|
0.27385
|
NM_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16420
|
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)
|
rs2229147
|
0.10248
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)
|
rs2228071
|
0.06536
|
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)
|
rs8192690
|
0.05059
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His)
|
rs8192556
|
0.01580
|
NM_006059.4(LAMC3):c.-2C>T
|
rs137883250
|
0.01424
|
NM_018249.6(CDK5RAP2):c.880-7A>G
|
rs76132121
|
0.01314
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=)
|
rs117685875
|
0.01001
|
NM_000136.3(FANCC):c.-155A>C
|
rs549658720
|
0.00998
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)
|
rs61995747
|
0.00892
|
NM_018249.6(CDK5RAP2):c.307-4G>A
|
rs7030969
|
0.00860
|
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala)
|
rs34799090
|
0.00854
|
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=)
|
rs34179337
|
0.00827
|
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys)
|
rs34058399
|
0.00789
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_002113.3(CFHR1):c.790+1G>A
|
rs140799744
|
0.00774
|
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter)
|
rs143140599
|
0.00764
|
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met)
|
rs75099879
|
0.00758
|
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)
|
rs28933375
|
0.00756
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00736
|
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)
|
rs45464693
|
0.00730
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_000041.4(APOE):c.487C>T (p.Arg163Cys)
|
rs769455
|
0.00701
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly)
|
rs61749367
|
0.00656
|
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)
|
rs4987048
|
0.00655
|
NM_017841.4(SDHAF2):c.*12C>T
|
rs113652589
|
0.00617
|
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met)
|
rs114128928
|
0.00612
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser)
|
rs111738042
|
0.00575
|
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp)
|
rs11569534
|
0.00573
|
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)
|
rs118147866
|
0.00549
|
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)
|
rs56404770
|
0.00546
|
NM_024740.2(ALG9):c.1383C>T (p.Thr461=)
|
rs45516107
|
0.00545
|
NM_001048174.2(MUTYH):c.421-4A>G
|
rs201678305
|
0.00541
|
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp)
|
rs116535684
|
0.00539
|
NM_000439.5(PCSK1):c.397-10T>C
|
rs142423997
|
0.00535
|
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser)
|
rs41312157
|
0.00531
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg)
|
rs121917710
|
0.00511
|
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=)
|
rs112551069
|
0.00501
|
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro)
|
rs145477191
|
0.00501
|
NM_198576.4(AGRN):c.5201G>A (p.Arg1734His)
|
rs145444272
|
0.00493
|
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg)
|
rs188840960
|
0.00490
|
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)
|
rs111315726
|
0.00476
|
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)
|
rs1799802
|
0.00471
|
NM_006306.4(SMC1A):c.*14C>T
|
rs112727682
|
0.00436
|
NM_004656.4(BAP1):c.2057-4G>T
|
rs149499021
|
0.00433
|
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys)
|
rs142993240
|
0.00430
|
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)
|
rs56815840
|
0.00424
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_000383.4(AIRE):c.595G>A (p.Val199Ile)
|
rs74162061
|
0.00404
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=)
|
rs150055592
|
0.00362
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys)
|
rs114647348
|
0.00354
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)
|
rs17027133
|
0.00349
|
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161
|
0.00349
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)
|
rs145110602
|
0.00343
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_000222.3(KIT):c.1383A>G (p.Thr461=)
|
rs151016327
|
0.00324
|
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe)
|
rs55849827
|
0.00322
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser)
|
rs144455066
|
0.00310
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)
|
rs139913632
|
0.00307
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
NM_015450.3(POT1):c.903G>T (p.Gln301His)
|
rs116916706
|
0.00304
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_002691.4(POLD1):c.778A>G (p.Ile260Val)
|
rs8105725
|
0.00295
|
NM_004364.5(CEBPA):c.402G>A (p.Ala134=)
|
rs752254340
|
0.00295
|
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)
|
rs28903094
|
0.00293
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
|
rs2229073
|
0.00281
|
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)
|
rs186745328
|
0.00280
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val)
|
rs121917810
|
0.00274
|
NM_000314.8(PTEN):c.-165C>G
|
rs575260016
|
0.00267
|
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=)
|
rs61781316
|
0.00257
|
NM_000361.3(THBD):c.127G>A (p.Ala43Thr)
|
rs1800576
|
0.00255
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
NM_002435.3(MPI):c.303C>T (p.Leu101=)
|
rs139228075
|
0.00240
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)
|
rs149172723
|
0.00230
|
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr)
|
rs11569541
|
0.00226
|
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala)
|
rs151105762
|
0.00218
|
NM_005475.3(SH2B3):c.770T>C (p.Ile257Thr)
|
rs147341899
|
0.00192
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe)
|
rs142007602
|
0.00161
|
NM_004260.4(RECQL4):c.615C>G (p.Pro205=)
|
rs35639991
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_001379110.1(SLC9A6):c.*8A>T
|
rs200171451
|
0.00157
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
NM_000552.5(VWF):c.1728G>T (p.Met576Ile)
|
rs150146744
|
0.00155
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)
|
rs35155575
|
0.00151
|
NM_005732.4(RAD50):c.379G>A (p.Val127Ile)
|
rs28903086
|
0.00146
|
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile)
|
rs143351214
|
0.00145
|
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys)
|
rs41304587
|
0.00141
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
NM_000439.5(PCSK1):c.1197-9C>T
|
rs200973203
|
0.00125
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter)
|
rs144321381
|
0.00124
|
NM_003179.3(SYP):c.877G>A (p.Gly293Ser)
|
rs139475570
|
0.00122
|
NM_001164508.2(NEB):c.12C>T (p.Asp4=)
|
rs117178114
|
0.00119
|
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)
|
rs143713841
|
0.00118
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_001318510.2(ACSL4):c.806+3A>G
|
rs183171123
|
0.00097
|
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)
|
rs146402942
|
0.00096
|
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)
|
rs142126065
|
0.00095
|
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu)
|
rs148939095
|
0.00091
|
NM_006005.3(WFS1):c.966C>T (p.His322=)
|
rs140196582
|
0.00083
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_030787.4(CFHR5):c.432A>T (p.Lys144Asn)
|
rs181511327
|
0.00076
|
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu)
|
rs34521483
|
0.00070
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)
|
rs139781067
|
0.00058
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=)
|
rs145756629
|
0.00058
|
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser)
|
rs78936193
|
0.00051
|
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)
|
rs150678035
|
0.00048
|
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=)
|
rs201709328
|
0.00047
|
NM_005045.4(RELN):c.7114G>A (p.Val2372Met)
|
rs114344654
|
0.00046
|
NM_002691.4(POLD1):c.653G>A (p.Arg218His)
|
rs150010804
|
0.00045
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_003482.4(KMT2D):c.6235-6C>G
|
rs373858319
|
0.00040
|
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)
|
rs201922441
|
0.00040
|
NM_020975.6(RET):c.200G>A (p.Arg67His)
|
rs192489011
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000222.3(KIT):c.821C>T (p.Thr274Met)
|
rs138585275
|
0.00035
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile)
|
rs34830702
|
0.00033
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser)
|
rs61745604
|
0.00029
|
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)
|
rs146168040
|
0.00029
|
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe)
|
rs144607594
|
0.00028
|
NM_144997.7(FLCN):c.1149C>T (p.Leu383=)
|
rs150752548
|
0.00028
|
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val)
|
rs143396390
|
0.00027
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00026
|
NM_015450.3(POT1):c.1228G>C (p.Asp410His)
|
rs79314063
|
0.00022
|
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)
|
rs145151284
|
0.00018
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_006231.4(POLE):c.6004+5G>T
|
rs372169366
|
0.00014
|
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu)
|
rs146711478
|
0.00014
|
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)
|
rs140495790
|
0.00010
|
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)
|
rs398124386
|
0.00008
|
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu)
|
rs144995231
|
0.00006
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=)
|
rs143063879
|
0.00006
|
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val)
|
rs372271746
|
0.00005
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
0.00004
|
NM_014141.6(CNTNAP2):c.3716-6C>G
|
rs77025884
|
0.00004
|
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=)
|
rs188188906
|
0.00004
|
NM_000426.4(LAMA2):c.5688C>T (p.His1896=)
|
rs573779258
|
0.00003
|
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)
|
rs756986206
|
0.00002
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=)
|
rs528502993
|
0.00001
|
NM_001267550.2(TTN):c.57273C>T (p.Asp19091=)
|
rs587780489
|
0.00001
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser)
|
rs587783224
|
0.00001
|
NM_130839.5(UBE3A):c.176G>A (p.Arg59His)
|
rs587784511
|
0.00001
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)
|
rs35350960
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)
|
rs200138205
|
|
NM_001083961.2(WDR62):c.269+12del
|
rs797046108
|
|
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys)
|
rs141382970
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp)
|
rs140854076
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
NM_001643.2(APOA2):c.53-43TG[17]
|
rs17244502
|
|
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)
|
rs146480420
|
|
NM_003051.4(SLC16A1):c.362-58TATT[9]
|
rs149491709
|
|
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=)
|
rs570981209
|
|
NM_018451.5(CENPJ):c.2992-17dup
|
rs35599563
|
|
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=)
|
rs4021006
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
NM_181332.3(NLGN4X):c.115A>G (p.Ile39Val)
|
rs201534650
|
|