NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_016343.4(CENPF):c.3811A>G (p.Lys1271Glu)
|
rs62000407
|
0.00238
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_000027.4(AGA):c.376C>G (p.Leu126Val)
|
rs200420067
|
0.00078
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)
|
rs28937590
|
0.00042
|
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val)
|
rs202150579
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln)
|
rs202111577
|
0.00017
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_017866.6(TMEM70):c.317-2A>G
|
rs183973249
|
0.00011
|
NM_000199.5(SGSH):c.730G>A (p.Gly244Ser)
|
rs773480617
|
0.00010
|
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
|
rs121918548
|
0.00007
|
NM_145207.3(AFG2A):c.251G>A (p.Arg84Gln)
|
rs745858366
|
0.00006
|
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)
|
rs200440128
|
0.00005
|
NM_006517.5(SLC16A2):c.1135G>A (p.Asp379Asn)
|
rs1163109289
|
0.00005
|
NM_012280.4(FTSJ1):c.769G>A (p.Gly257Ser)
|
rs782303332
|
0.00005
|
NM_001128126.3(AP4S1):c.138+1G>A
|
rs200033849
|
0.00004
|
NM_004793.4(LONP1):c.1271G>A (p.Arg424His)
|
rs748335411
|
0.00004
|
NM_015466.4(PTPN23):c.2680C>T (p.His894Tyr)
|
rs967738491
|
0.00004
|
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)
|
rs749465164
|
0.00004
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_001160372.4(TRAPPC9):c.805C>T (p.Arg269Trp)
|
rs779077167
|
0.00003
|
NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp)
|
rs606231455
|
0.00002
|
NM_001195518.2(MICU1):c.385C>T (p.Arg129Ter)
|
rs369069489
|
0.00002
|
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)
|
rs770566897
|
0.00002
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter)
|
rs778649204
|
0.00002
|
NM_020137.5(GRIPAP1):c.1474C>T (p.Arg492Trp)
|
rs1557062715
|
0.00002
|
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys)
|
rs367584549
|
0.00002
|
NM_000054.7(AVPR2):c.409C>T (p.Arg137Cys)
|
rs104894761
|
0.00001
|
NM_000188.3(HK1):c.1480G>A (p.Glu494Lys)
|
rs1332719473
|
0.00001
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
NM_000288.4(PEX7):c.854A>G (p.His285Arg)
|
rs62653611
|
0.00001
|
NM_000391.4(TPP1):c.1593dup (p.Glu532fs)
|
rs1216139602
|
0.00001
|
NM_000875.5(IGF1R):c.3529C>T (p.Arg1177Cys)
|
rs2016422373
|
0.00001
|
NM_001040142.2(SCN2A):c.2975C>T (p.Ala992Val)
|
rs1309548488
|
0.00001
|
NM_001079866.2(BCS1L):c.755G>A (p.Cys252Tyr)
|
rs1165110929
|
0.00001
|
NM_001160372.4(TRAPPC9):c.1603A>T (p.Thr535Ser)
|
rs756125925
|
0.00001
|
NM_001190737.2(NFIB):c.1330C>T (p.Arg444Ter)
|
rs1191193223
|
0.00001
|
NM_001206744.2(TPO):c.1477G>A (p.Gly493Ser)
|
rs778515113
|
0.00001
|
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln)
|
rs1429234959
|
0.00001
|
NM_001273.5(CHD4):c.1486C>G (p.Pro496Ala)
|
rs1226303367
|
0.00001
|
NM_001303052.2(MYT1L):c.634G>A (p.Ala212Thr)
|
rs1277588922
|
0.00001
|
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys)
|
rs367757240
|
0.00001
|
NM_001379110.1(SLC9A6):c.-57+26A>G
|
rs782640388
|
0.00001
|
NM_001386298.1(CIC):c.5219C>T (p.Thr1740Met)
|
rs2038076592
|
0.00001
|
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn)
|
rs763757370
|
0.00001
|
NM_001693.4(ATP6V1B2):c.307T>G (p.Ser103Ala)
|
rs1216774490
|
0.00001
|
NM_002524.5(NRAS):c.490C>T (p.Arg164Cys)
|
rs1658971260
|
0.00001
|
NM_003072.5(SMARCA4):c.1073C>T (p.Pro358Leu)
|
rs1060502094
|
0.00001
|
NM_003128.3(SPTBN1):c.646C>T (p.Arg216Trp)
|
rs1677695509
|
0.00001
|
NM_003922.4(HERC1):c.2572C>T (p.Arg858Ter)
|
rs764310338
|
0.00001
|
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys)
|
rs1555471394
|
0.00001
|
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)
|
rs766478634
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_015100.4(POGZ):c.2111C>G (p.Ser704Cys)
|
rs1654079494
|
0.00001
|
NM_015909.4(NBAS):c.2290C>T (p.Pro764Ser)
|
rs200532922
|
0.00001
|
NM_017736.5(THUMPD1):c.133G>A (p.Gly45Ser)
|
rs1430954456
|
0.00001
|
NM_017736.5(THUMPD1):c.341T>G (p.Leu114Ter)
|
rs1470272788
|
0.00001
|
NM_017872.5(THG1L):c.529C>T (p.Gln177Ter)
|
rs1231208679
|
0.00001
|
NM_020822.3(KCNT1):c.2881C>T (p.Arg961Cys)
|
rs1178947201
|
0.00001
|
NM_022552.5(DNMT3A):c.917G>A (p.Trp306Ter)
|
rs1465829182
|
0.00001
|
NM_024757.5(EHMT1):c.1248+1G>A
|
rs1564693344
|
0.00001
|
NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys)
|
rs749476185
|
0.00001
|
NM_030805.4(LMAN2L):c.508-1102C>T
|
rs758530620
|
0.00001
|
NM_030973.4(MED25):c.820-1G>A
|
rs551069830
|
0.00001
|
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)
|
rs755919767
|
0.00001
|
NM_052988.5(CDK10):c.664_665del (p.Met222fs)
|
rs767050911
|
0.00001
|
NM_133443.4(GPT2):c.1175C>T (p.Pro392Leu)
|
rs764789266
|
0.00001
|
NM_153816.6(SNX14):c.1476-8A>G
|
rs1475452583
|
0.00001
|
NM_198576.4(AGRN):c.4744G>A (p.Gly1582Arg)
|
rs1367262797
|
0.00001
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
NM_000048.4(ASL):c.1045_1057del (p.Val349fs)
|
rs796051933
|
|
NM_000048.4(ASL):c.374T>C (p.Met125Thr)
|
|
|
NM_000048.4(ASL):c.502C>A (p.Arg168Ser)
|
rs766832061
|
|
NM_000147.5(FUCA1):c.1004A>G (p.Tyr335Cys)
|
rs1381233051
|
|
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys)
|
rs1569006974
|
|
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)
|
rs727504412
|
|
NM_000240.4(MAOA):c.1237C>T (p.Pro413Ser)
|
rs2033963994
|
|
NM_000287.4(PEX6):c.2406del (p.Phe802fs)
|
rs1554126965
|
|
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)
|
rs267608203
|
|
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter)
|
rs786202918
|
|
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)
|
rs1571158279
|
|
NM_000330.4(RS1):c.184+3139G>C
|
rs779791138
|
|
NM_000388.4(CASR):c.2516T>C (p.Ile839Thr)
|
rs2107650645
|
|
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly)
|
rs2146717703
|
|
NM_000489.6(ATRX):c.4292A>G (p.Gln1431Arg)
|
rs2148450330
|
|
NM_000489.6(ATRX):c.5072A>C (p.Gln1691Pro)
|
rs1569533321
|
|
NM_000531.6(OTC):c.143_144del (p.Phe48fs)
|
rs2068301848
|
|
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)
|
rs63749869
|
|
NM_000548.5(TSC2):c.924del (p.Leu309fs)
|
rs2151108081
|
|
NM_000746.6(CHRNA7):c.90C>G (p.Tyr30Ter)
|
rs770538645
|
|
NM_000827.4(GRIA1):c.2092C>T (p.Arg698Trp)
|
rs564265256
|
|
NM_000834.5(GRIN2B):c.1079C>T (p.Pro360Leu)
|
|
|
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg)
|
rs867553974
|
|
NM_000834.5(GRIN2B):c.1568T>C (p.Val523Ala)
|
rs2136479447
|
|
NM_000834.5(GRIN2B):c.2026G>A (p.Asp676Asn)
|
rs1565457924
|
|
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter)
|
rs879253931
|
|
NM_000875.5(IGF1R):c.2128_2139del (p.Gln710_Lys713del)
|
|
|
NM_000875.5(IGF1R):c.3137_3138del (p.Glu1046fs)
|
|
|
NM_000875.5(IGF1R):c.77G>A (p.Trp26Ter)
|
rs2141155238
|
|
NM_000937.5(POLR2A):c.2732C>T (p.Pro911Leu)
|
rs2150883515
|
|
NM_000937.5(POLR2A):c.381G>C (p.Lys127Asn)
|
rs2150879653
|
|
NM_001001344.3(ATP2B3):c.3485C>T (p.Thr1162Met)
|
|
|
NM_001002295.2(GATA3):c.1306C>G (p.Pro436Ala)
|
rs1832975214
|
|
NM_001003694.2(BRPF1):c.2065dup (p.Glu689fs)
|
rs2125507991
|
|
NM_001003694.2(BRPF1):c.3433C>T (p.Arg1145Ter)
|
rs2125516283
|
|
NM_001005273.3(CHD3):c.1867C>T (p.Arg623Cys)
|
rs923486409
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)
|
rs2111857835
|
|
NM_001007527.2(LMBRD2):c.1460C>T (p.Pro487Leu)
|
rs2111857806
|
|
NM_001008537.3(NEXMIF):c.2984C>A (p.Ser995Ter)
|
rs1569335235
|
|
NM_001008537.3(NEXMIF):c.3050del (p.Asp1017fs)
|
rs2080103357
|
|
NM_001009944.3(PKD1):c.10387A>T (p.Lys3463Ter)
|
rs150020128
|
|
NM_001015877.2(PHF6):c.743G>A (p.Gly248Asp)
|
rs2077467203
|
|
NM_001020658.2(PUM1):c.3267_3270del (p.His1090fs)
|
rs2124378402
|
|
NM_001029882.3(AHDC1):c.2026delinsTT (p.Gly676fs)
|
rs1553159175
|
|
NM_001029896.2(WDR45):c.516+1G>A
|
rs797046102
|
|
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val)
|
rs1554778420
|
|
NM_001032221.6(STXBP1):c.795-1G>A
|
rs1554777708
|
|
NM_001032382.2(PQBP1):c.240C>G (p.Asp80Glu)
|
rs1557041244
|
|
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)
|
rs1557041672
|
|
NM_001039591.3(USP9X):c.208_209del (p.His69_Thr70insTer)
|
rs2147006012
|
|
NM_001039591.3(USP9X):c.4563T>G (p.Asp1521Glu)
|
rs2063011910
|
|
NM_001039591.3(USP9X):c.5272G>A (p.Val1758Ile)
|
rs2063195819
|
|
NM_001039591.3(USP9X):c.5273T>A (p.Val1758Asp)
|
rs1555933732
|
|
NM_001039591.3(USP9X):c.7454C>A (p.Pro2485Gln)
|
rs2063351416
|
|
NM_001040142.2(SCN2A):c.304C>G (p.Arg102Gly)
|
rs387906683
|
|
NM_001040142.2(SCN2A):c.4231G>C (p.Gly1411Arg)
|
rs1553593860
|
|
NM_001040142.2(SCN2A):c.4865C>G (p.Pro1622Arg)
|
rs1558885489
|
|
NM_001042475.3(CEP85L):c.232+1G>T
|
rs1774227158
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042681.2(RERE):c.3249dup (p.Ser1084fs)
|
rs745806637
|
|
NM_001042681.2(RERE):c.3732del (p.Tyr1245fs)
|
|
|
NM_001042681.2(RERE):c.4305C>G (p.His1435Gln)
|
rs751232315
|
|
NM_001042750.2(STAG2):c.907G>A (p.Glu303Lys)
|
rs1556521622
|
|
NM_001042750.2(STAG2):c.943T>C (p.Trp315Arg)
|
|
|
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His)
|
rs1057521250
|
|
NM_001069.3(TUBB2A):c.403C>G (p.Leu135Val)
|
rs2113785610
|
|
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu)
|
rs1554122947
|
|
NM_001079872.2(CUL4B):c.2668C>T (p.Gln890Ter)
|
rs1569385075
|
|
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp)
|
rs1553621798
|
|
NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter)
|
rs864321657
|
|
NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter)
|
rs1553635637
|
|
NM_001080517.3(SETD5):c.3367_3368insG (p.Pro1123fs)
|
rs2045541526
|
|
NM_001080517.3(SETD5):c.3586G>T (p.Glu1196Ter)
|
rs763827023
|
|
NM_001080517.3(SETD5):c.536del (p.Gly179fs)
|
rs2125111475
|
|
NM_001081550.2(THOC2):c.3326T>C (p.Val1109Ala)
|
rs2147599772
|
|
NM_001083619.3(GRIA2):c.2350A>G (p.Lys784Glu)
|
rs2127000855
|
|
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs)
|
rs398123561
|
|
NM_001083962.2(TCF4):c.913_920del (p.Ser305fs)
|
rs1555789026
|
|
NM_001099922.3(ALG13):c.2458-1G>A
|
rs1008287339
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001101.5(ACTB):c.1078_1079dup (p.Gln360fs)
|
|
|
NM_001101.5(ACTB):c.166G>T (p.Asp56Tyr)
|
rs1584263049
|
|
NM_001101.5(ACTB):c.31_33del (p.Asp11del)
|
rs2128241455
|
|
NM_001101.5(ACTB):c.350AGA[1] (p.Lys118del)
|
|
|
NM_001101.5(ACTB):c.73G>A (p.Asp25Asn)
|
rs1784839731
|
|
NM_001101.5(ACTB):c.773C>T (p.Pro258Leu)
|
rs1554329281
|
|
NM_001101.5(ACTB):c.899_916del (p.Ser300_Met305del)
|
rs1562718846
|
|
NM_001110556.2(FLNA):c.7058T>C (p.Phe2353Ser)
|
rs2148102210
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1209_1236del (p.Glu404fs)
|
rs2065913161
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
|
rs61751443
|
|
NM_001111125.3(IQSEC2):c.2213_2214delinsAG (p.Thr738Lys)
|
rs2147096828
|
|
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter)
|
rs1131691887
|
|
NM_001111125.3(IQSEC2):c.2990T>G (p.Val997Gly)
|
rs2147049357
|
|
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)
|
rs1554991378
|
|
NM_001123385.2(BCOR):c.4807A>C (p.Ser1603Arg)
|
rs1555913327
|
|
NM_001127222.2(CACNA1A):c.6780+1G>A
|
|
|
NM_001127392.3(MYRF):c.1817_1819dup (p.Arg606_Ile607insArg)
|
rs2135843880
|
|
NM_001128.6(AP1G1):c.974+1G>T
|
rs2145462890
|
|
NM_001128126.3(AP4S1):c.138+3_138+6del
|
rs876661295
|
|
NM_001128126.3(AP4S1):c.294+1G>C
|
rs886041127
|
|
NM_001130438.3(SPTAN1):c.4458del (p.Lys1486fs)
|
rs1564280617
|
|
NM_001130438.3(SPTAN1):c.5468_5471del (p.Pro1823fs)
|
|
|
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp)
|
rs2131953982
|
|
NM_001130438.3(SPTAN1):c.872del (p.Gln291fs)
|
rs1564211389
|
|
NM_001134407.3(GRIN2A):c.1511G>A (p.Arg504Gln)
|
rs1331671132
|
|
NM_001134407.3(GRIN2A):c.1827G>C (p.Trp609Cys)
|
rs1555492790
|
|
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)
|
rs1445802934
|
|
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)
|
rs1555491654
|
|
NM_001134673.4(NFIA):c.106delinsTGAACCTGTATTGAAGTATTT (p.Arg36Ter)
|
rs1646255018
|
|
NM_001134673.4(NFIA):c.984_1015del (p.Lys328fs)
|
rs2100485780
|
|
NM_001135998.3(NDUFB11):c.145_152dup (p.Thr52fs)
|
rs2147053098
|
|
NM_001145073.3(USP27X):c.106C>T (p.Gln36Ter)
|
rs2147224405
|
|
NM_001145358.2(SIN3A):c.1076dup (p.Tyr359Ter)
|
rs2141487276
|
|
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val)
|
rs2092522027
|
|
NM_001165963.4(SCN1A):c.3977C>A (p.Ala1326Asp)
|
rs2105569724
|
|
NM_001170629.2(CHD8):c.2364+1G>C
|
rs2139484699
|
|
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter)
|
rs1555314911
|
|
NM_001170629.2(CHD8):c.3724C>T (p.Arg1242Ter)
|
rs1555314788
|
|
NM_001170629.2(CHD8):c.4115del (p.Asn1372fs)
|
rs1888033166
|
|
NM_001170629.2(CHD8):c.4468_4469insA (p.Cys1490Ter)
|
rs1555314378
|
|
NM_001170629.2(CHD8):c.5856_5863dup (p.Phe1955fs)
|
|
|
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs)
|
rs751094013
|
|
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
|
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
NM_001172509.2(SATB2):c.722dup (p.Asn241fs)
|
rs1688740919
|
|
NM_001174147.2(LMX1B):c.319_320dup (p.Gln108fs)
|
rs2118823895
|
|
NM_001190274.2(FBXO11):c.1276A>T (p.Asn426Tyr)
|
rs2104808169
|
|
NM_001190274.2(FBXO11):c.1459T>C (p.Tyr487His)
|
|
|
NM_001190737.2(NFIB):c.30+1G>A
|
|
|
NM_001195518.2(MICU1):c.40del (p.Ala14fs)
|
rs749124658
|
|
NM_001195553.2(DCX):c.187C>T (p.Arg63Cys)
|
rs587783529
|
|
NM_001195553.2(DCX):c.608C>G (p.Thr203Arg)
|
rs104894782
|
|
NM_001197104.2(KMT2A):c.11430-250_11643+240del
|
|
|
NM_001197104.2(KMT2A):c.4524G>C (p.Glu1508Asp)
|
|
|
NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg)
|
rs2134335014
|
|
NM_001197104.2(KMT2A):c.5005-2A>G
|
rs1555042987
|
|
NM_001197104.2(KMT2A):c.865A>T (p.Lys289Ter)
|
rs1949951589
|
|
NM_001197104.2(KMT2A):c.9449del (p.Pro3150fs)
|
|
|
NM_001197104.2(KMT2A):c.9847C>T (p.Arg3283Ter)
|
rs2134408087
|
|
NM_001220.5(CAMK2B):c.328G>A (p.Glu110Lys)
|
rs1554402092
|
|
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)
|
rs1554389088
|
|
NM_001220.5(CAMK2B):c.611T>C (p.Leu204Pro)
|
rs2128968013
|
|
NM_001220.5(CAMK2B):c.709G>A (p.Glu237Lys)
|
rs1554386687
|
|
NM_001220.5(CAMK2B):c.820-1G>A
|
rs1554385305
|
|
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter)
|
rs1554434435
|
|
NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu)
|
rs1554385111
|
|
NM_001220.5(CAMK2B):c.903+1G>A
|
rs1554385102
|
|
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter)
|
rs782074040
|
|
NM_001258392.3(CLPB):c.1781A>G (p.His594Arg)
|
rs1565418087
|
|
NM_001270.4(CHD1):c.3737C>T (p.Ala1246Val)
|
rs2112324458
|
|
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)
|
rs2053619460
|
|
NM_001271.4(CHD2):c.2674C>T (p.Gln892Ter)
|
rs1567149938
|
|
NM_001271.4(CHD2):c.3564C>G (p.Tyr1188Ter)
|
rs2272457
|
|
NM_001271.4(CHD2):c.3853A>T (p.Lys1285Ter)
|
rs2054201060
|
|
NM_001273.5(CHD4):c.1766G>C (p.Gly589Ala)
|
rs1565615605
|
|
NM_001273.5(CHD4):c.2862G>A (p.Met954Ile)
|
rs1948418309
|
|
NM_001278716.2(FBXL4):c.1607A>C (p.Gln536Pro)
|
rs1554215998
|
|
NM_001282116.2(RFX3):c.1708dup (p.Ala570fs)
|
rs2131116061
|
|
NM_001282116.2(RFX3):c.763C>T (p.Arg255Cys)
|
rs2131583484
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)
|
rs587777523
|
|
NM_001282531.3(ADNP):c.3307dup (p.Ter1103LeuextTer?)
|
rs1555809337
|
|
NM_001282534.2(KCNK9):c.466A>G (p.Met156Val)
|
rs1563717544
|
|
NM_001286704.2(UFM1):c.-273_-271del
|
rs747359907
|
|
NM_001287491.2(TET3):c.5342C>A (p.Ser1781Tyr)
|
rs2104237905
|
|
NM_001291415.2(KDM6A):c.1486-2A>G
|
|
|
NM_001291415.2(KDM6A):c.1683+1G>A
|
rs1569533871
|
|
NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter)
|
rs755440519
|
|
NM_001291415.2(KDM6A):c.2988+1G>A
|
rs1135401809
|
|
NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr)
|
rs1556350571
|
|
NM_001303052.2(MYT1L):c.1807del (p.Arg603fs)
|
rs2149016192
|
|
NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter)
|
rs745333246
|
|
NM_001303052.2(MYT1L):c.3076C>A (p.Arg1026Ser)
|
rs1558710588
|
|
NM_001303052.2(MYT1L):c.52C>T (p.Arg18Ter)
|
rs2060458735
|
|
NM_001303052.2(MYT1L):c.535C>T (p.Arg179Ter)
|
rs1558414255
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
NM_001318852.2(MAPK8IP3):c.3440G>A (p.Arg1147His)
|
rs2141957171
|
|
NM_001320.7(CSNK2B):c.410G>A (p.Cys137Tyr)
|
rs2151188789
|
|
NM_001320.7(CSNK2B):c.495_496del (p.Met166fs)
|
rs2151188957
|
|
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter)
|
rs1182894684
|
|
NM_001321571.2(CAMK2D):c.236G>A (p.Ser79Asn)
|
|
|
NM_001321571.2(CAMK2D):c.275+1G>T
|
|
|
NM_001321571.2(CAMK2D):c.416C>T (p.Pro139Leu)
|
|
|
NM_001321571.2(CAMK2D):c.628G>A (p.Gly210Arg)
|
|
|
NM_001321571.2(CAMK2D):c.821A>C (p.Gln274Pro)
|
|
|
NM_001321571.2(CAMK2D):c.824G>A (p.Arg275His)
|
|
|
NM_001321571.2(CAMK2D):c.873G>C (p.Leu291Phe)
|
|
|
NM_001321571.2(CAMK2D):c.881T>C (p.Phe294Ser)
|
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.261C>G (p.Tyr87Ter)
|
rs1484586967
|
|
NM_001330260.2(SCN8A):c.2683C>G (p.Gln895Glu)
|
|
|
NM_001330260.2(SCN8A):c.5015A>G (p.Asn1672Ser)
|
rs1592174367
|
|
NM_001330260.2(SCN8A):c.5084T>C (p.Met1695Thr)
|
rs2138942837
|
|
NM_001330260.2(SCN8A):c.5162G>A (p.Cys1721Tyr)
|
rs2138943030
|
|
NM_001330260.2(SCN8A):c.536C>T (p.Ala179Val)
|
rs2138712976
|
|
NM_001330260.2(SCN8A):c.736C>T (p.Gln246Ter)
|
rs1555218610
|
|
NM_001330260.2(SCN8A):c.755C>G (p.Ser252Ter)
|
|
|
NM_001330288.2(SMARCC2):c.1516C>T (p.Gln506Ter)
|
rs2135696174
|
|
NM_001330288.2(SMARCC2):c.230C>T (p.Pro77Leu)
|
rs1877425899
|
|
NM_001330700.2(TOP2B):c.1289A>G (p.Glu430Gly)
|
|
|
NM_001332.4(CTNND2):c.2653C>T (p.Arg885Ter)
|
rs886041494
|
|
NM_001347721.2(DYRK1A):c.1158T>G (p.Phe386Leu)
|
rs2053264281
|
|
NM_001347721.2(DYRK1A):c.1306dup (p.Thr436fs)
|
rs1555990855
|
|
NM_001347721.2(DYRK1A):c.263C>G (p.Ser88Cys)
|
|
|
NM_001348323.3(TRIP12):c.2118_2119insT (p.Thr707fs)
|
rs2154278573
|
|
NM_001348323.3(TRIP12):c.4909A>G (p.Met1637Val)
|
rs2040410947
|
|
NM_001348323.3(TRIP12):c.6129T>G (p.Tyr2043Ter)
|
|
|
NM_001348800.3(ZBTB20):c.1099G>C (p.Glu367Gln)
|
rs1560114223
|
|
NM_001348800.3(ZBTB20):c.1775A>G (p.Asn592Ser)
|
rs1240860015
|
|
NM_001348800.3(ZBTB20):c.1845C>A (p.Phe615Leu)
|
|
|
NM_001348800.3(ZBTB20):c.1862T>G (p.Leu621Arg)
|
|
|
NM_001349338.3(FOXP1):c.1000dup (p.Asp334fs)
|
rs2107613139
|
|
NM_001349338.3(FOXP1):c.1406C>T (p.Thr469Ile)
|
rs2037853932
|
|
NM_001349798.2(FBXW7):c.1939A>T (p.Lys647Ter)
|
rs2126464225
|
|
NM_001349798.2(FBXW7):c.832C>T (p.Arg278Ter)
|
rs2126583593
|
|
NM_001351169.2(NT5C2):c.1449+2T>C
|
rs753295868
|
|
NM_001353345.2(SETD1B):c.2078del (p.Pro693fs)
|
rs2137560347
|
|
NM_001353345.2(SETD1B):c.22dup (p.His8fs)
|
|
|
NM_001353345.2(SETD1B):c.5443G>A (p.Asp1815Asn)
|
rs2137589126
|
|
NM_001353345.2(SETD1B):c.5824_5829del (p.Asp1942_Tyr1943del)
|
rs1877025777
|
|
NM_001353921.2(ARHGEF9):c.1077G>A (p.Lys359=)
|
rs1556347185
|
|
NM_001356.5(DDX3X):c.1282C>T (p.Arg428Trp)
|
rs2147356782
|
|
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr)
|
rs796052226
|
|
NM_001356.5(DDX3X):c.1640A>T (p.Glu547Val)
|
rs2147359960
|
|
NM_001356.5(DDX3X):c.488dup (p.Tyr163Ter)
|
rs2147350843
|
|
NM_001356.5(DDX3X):c.614C>T (p.Pro205Leu)
|
rs2147351801
|
|
NM_001356.5(DDX3X):c.623_626del (p.Lys208fs)
|
rs2063875918
|
|
NM_001356.5(DDX3X):c.67_71dup (p.Asp25fs)
|
rs2063786541
|
|
NM_001356.5(DDX3X):c.749_750insGCCTC (p.Leu251fs)
|
rs1555953333
|
|
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs)
|
rs1602131859
|
|
NM_001365902.3(NFIX):c.1254+2T>A
|
|
|
NM_001366521.1(ATP2B1):c.2353G>A (p.Val785Ile)
|
|
|
NM_001366521.1(ATP2B1):c.2386G>A (p.Gly796Ser)
|
|
|
NM_001366521.1(ATP2B1):c.3110C>G (p.Ser1037Ter)
|
|
|
NM_001367534.1(CAMK2G):c.715G>A (p.Asp239Asn)
|
|
|
NM_001367721.1(CASK):c.172+1G>A
|
rs2147971387
|
|
NM_001367721.1(CASK):c.2252_2253del (p.Gly751fs)
|
rs2147095950
|
|
NM_001367721.1(CASK):c.38_39del (p.Glu13fs)
|
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
NM_001367873.1(SOX6):c.1893G>C (p.Trp631Cys)
|
rs2119819668
|
|
NM_001367873.1(SOX6):c.293C>G (p.Ser98Ter)
|
rs2134302287
|
|
NM_001367916.1(MAGT1):c.616C>T (p.Arg206Ter)
|
rs879989957
|
|
NM_001368397.1(FRMPD4):c.2317C>G (p.Leu773Val)
|
|
|
NM_001370100.5(ZMYND11):c.220A>G (p.Lys74Glu)
|
rs2131269173
|
|
NM_001370348.2(PHF3):c.3610C>T (p.Arg1204Ter)
|
rs2149606956
|
|
NM_001371246.1(SCN2A):c.640T>C (p.Ser214Pro)
|
rs1553567482
|
|
NM_001371928.1(AHDC1):c.2432C>A (p.Ser811Ter)
|
|
|
NM_001371986.1(UNC80):c.5161C>T (p.Arg1721Cys)
|
rs1266989763
|
|
NM_001372044.2(SHANK3):c.4132C>T (p.Arg1378Ter)
|
rs1238131472
|
|
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs)
|
rs1603447373
|
|
NM_001372044.2(SHANK3):c.4878_4879insGCACC (p.Pro1627fs)
|
rs2083358123
|
|
NM_001374828.1(ARID1B):c.1548del (p.Ser515_Tyr516insTer)
|
rs2114999450
|
|
NM_001374828.1(ARID1B):c.2124C>A (p.Tyr708Ter)
|
rs751192841
|
|
NM_001374828.1(ARID1B):c.3665A>T (p.Asp1222Val)
|
rs1554231259
|
|
NM_001374828.1(ARID1B):c.3700G>A (p.Gly1234Arg)
|
rs2128317800
|
|
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)
|
rs1554237269
|
|
NM_001375380.1(EBF3):c.135-2A>G
|
|
|
NM_001375380.1(EBF3):c.469_477dup (p.His157_Ile159dup)
|
rs1554935456
|
|
NM_001375380.1(EBF3):c.859_860insT (p.Asn287fs)
|
rs1564840008
|
|
NM_001375524.1(TRRAP):c.11491G>A (p.Ala3831Thr)
|
|
|
NM_001375524.1(TRRAP):c.3904G>A (p.Ala1302Thr)
|
rs1790410600
|
|
NM_001376.5(DYNC1H1):c.1351C>T (p.Arg451Cys)
|
rs2047891781
|
|
NM_001376.5(DYNC1H1):c.1795G>C (p.Gly599Arg)
|
rs2047932793
|
|
NM_001376.5(DYNC1H1):c.2678A>G (p.Tyr893Cys)
|
rs2141275840
|
|
NM_001378418.1(TCF20):c.5352del (p.Arg1785fs)
|
rs1555923508
|
|
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)
|
rs397514535
|
|
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)
|
rs1559603328
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378615.1(CC2D2A):c.2671G>A (p.Glu891Lys)
|
rs863225178
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
NM_001378615.1(CC2D2A):c.4544A>G (p.His1515Arg)
|
|
|
NM_001379291.1(BRD4):c.434A>G (p.Asp145Gly)
|
rs2145609712
|
|
NM_001379451.1(BCORL1):c.2567_2568del (p.Gln856fs)
|
rs2124451207
|
|
NM_001382241.1(TNPO2):c.1471_1474delinsCAAT (p.Lys491_Arg492delinsGlnTrp)
|
rs2145496104
|
|
NM_001385012.1(NBEA):c.3296dup (p.Tyr1100fs)
|
rs2152710919
|
|
NM_001385012.1(NBEA):c.8287G>A (p.Gly2763Arg)
|
rs2153082051
|
|
NM_001386298.1(CIC):c.1449G>C (p.Lys483Asn)
|
|
|
NM_001386298.1(CIC):c.2795-3881_5255del
|
|
|
NM_001389.5(DSCAM):c.5588del (p.Pro1863fs)
|
rs1555869463
|
|
NM_001393769.1(MED12L):c.4373C>T (p.Thr1458Ile)
|
rs772844769
|
|
NM_001429.4(EP300):c.272dup (p.Pro91_Asn92insTer)
|
rs1555905780
|
|
NM_001429.4(EP300):c.3302C>T (p.Thr1101Ile)
|
rs2145747224
|
|
NM_001429.4(EP300):c.3976G>A (p.Val1326Ile)
|
rs1268191227
|
|
NM_001493.3(GDI1):c.1237A>G (p.Thr413Ala)
|
rs1569553475
|
|
NM_001605.3(AARS1):c.2177C>T (p.Thr726Met)
|
rs1480620711
|
|
NM_001614.5(ACTG1):c.526C>G (p.Leu176Val)
|
rs782088589
|
|
NM_001673.5(ASNS):c.139T>G (p.Phe47Val)
|
rs1554350586
|
|
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)
|
rs797044916
|
|
NM_001830.4(CLCN4):c.1517C>G (p.Pro506Arg)
|
rs2147182703
|
|
NM_001830.4(CLCN4):c.1906G>A (p.Val636Met)
|
rs771033388
|
|
NM_001830.4(CLCN4):c.274G>A (p.Val92Met)
|
rs1569227811
|
|
NM_001854.4(COL11A1):c.4554+1G>C
|
rs886044244
|
|
NM_001904.4(CTNNB1):c.1189G>A (p.Gly397Arg)
|
rs2125638599
|
|
NM_001904.4(CTNNB1):c.1261del (p.Ala421fs)
|
rs1559474311
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
NM_001904.4(CTNNB1):c.2112dup (p.Glu705fs)
|
rs1559478415
|
|
NM_001958.5(EEF1A2):c.164A>G (p.Lys55Arg)
|
rs2145945553
|
|
NM_001970.5(EIF5A):c.77G>C (p.Arg26Pro)
|
rs2143008740
|
|
NM_002025.4(AFF2):c.3827A>G (p.Asp1276Gly)
|
rs1569558083
|
|
NM_002069.6(GNAI1):c.238T>G (p.Ser80Ala)
|
rs2115632680
|
|
NM_002074.5(GNB1):c.170A>C (p.Lys57Thr)
|
rs747183517
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002074.5(GNB1):c.274G>A (p.Ala92Thr)
|
rs1557889974
|
|
NM_002180.3(IGHMBP2):c.1391A>G (p.His464Arg)
|
rs2154008611
|
|
NM_002397.5(MEF2C):c.-8C>T
|
rs2153222958
|
|
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter)
|
rs1554150552
|
|
NM_002524.5(NRAS):c.85G>A (p.Val29Ile)
|
rs772665803
|
|
NM_002529.4(NTRK1):c.303T>A (p.Ser101Arg)
|
rs2102886126
|
|
NM_002576.5(PAK1):c.259G>T (p.Val87Phe)
|
|
|
NM_002578.5(PAK3):c.1255C>T (p.Arg419Ter)
|
rs121434611
|
|
NM_002578.5(PAK3):c.1403T>G (p.Leu468Arg)
|
rs1556298855
|
|
NM_002585.4(PBX1):c.838-1G>C
|
rs1669636373
|
|
NM_002730.4(PRKACA):c.61G>C (p.Ala21Pro)
|
rs1977645307
|
|
NM_002816.5(PSMD12):c.1162-1G>A
|
rs2041910387
|
|
NM_002816.5(PSMD12):c.168+5G>A
|
rs2143724794
|
|
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)
|
rs397507542
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
NM_002971.6(SATB1):c.1782del (p.Gln594fs)
|
rs2125123704
|
|
NM_002971.6(SATB1):c.2110G>A (p.Gly704Ser)
|
rs1482550358
|
|
NM_003011.4(SET):c.240_241delinsA (p.Asn80fs)
|
rs1861551788
|
|
NM_003031.4(SIAH1):c.149C>T (p.Pro50Leu)
|
rs2151044134
|
|
NM_003036.4(SKI):c.1950C>A (p.Cys650Ter)
|
rs113979182
|
|
NM_003042.3(SLC6A1):c.1328del
|
rs1199489242
|
|
NM_003042.4(SLC6A1):c.1177G>A (p.Gly393Ser)
|
rs1559633512
|
|
NM_003042.4(SLC6A1):c.559A>G (p.Ser187Gly)
|
|
|
NM_003042.4(SLC6A1):c.738C>G (p.Tyr246Ter)
|
rs1559629701
|
|
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)
|
rs1553689696
|
|
NM_003070.5(SMARCA2):c.3602C>A (p.Ala1201Glu)
|
rs281875189
|
|
NM_003072.5(SMARCA4):c.2247G>A (p.Met749Ile)
|
rs2088721594
|
|
NM_003072.5(SMARCA4):c.2828T>G (p.Phe943Cys)
|
rs1555778828
|
|
NM_003072.5(SMARCA4):c.3G>A (p.Met1Ile)
|
rs2145720045
|
|
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp)
|
rs1568963596
|
|
NM_003073.5(SMARCB1):c.1133T>C (p.Leu378Pro)
|
rs1410970733
|
|
NM_003073.5(SMARCB1):c.968AGA[1] (p.Lys324del)
|
rs2146027176
|
|
NM_003073.5(SMARCB1):c.986+5G>T
|
rs1555880607
|
|
NM_003076.5(SMARCD1):c.521G>A (p.Arg174His)
|
|
|
NM_003107.3(SOX4):c.130G>T (p.Gly44Cys)
|
rs753093855
|
|
NM_003128.3(SPTBN1):c.1922G>A (p.Trp641Ter)
|
|
|
NM_003128.3(SPTBN1):c.2887G>A (p.Glu963Lys)
|
rs2103937586
|
|
NM_003128.3(SPTBN1):c.811G>A (p.Val271Met)
|
rs2103866400
|
|
NM_003380.5(VIM):c.1160T>C (p.Leu387Pro)
|
rs1588736025
|
|
NM_003403.5(YY1):c.1150G>A (p.Val384Met)
|
rs2139605815
|
|
NM_003403.5(YY1):c.976G>A (p.Val326Ile)
|
rs2139604210
|
|
NM_003470.3(USP7):c.3052C>T (p.Arg1018Ter)
|
rs1272068741
|
|
NM_003482.4(KMT2D):c.13889dup (p.Pro4631fs)
|
rs2120403375
|
|
NM_003482.4(KMT2D):c.15970del (p.His5324fs)
|
rs1942486898
|
|
NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp)
|
rs1565753611
|
|
NM_003482.4(KMT2D):c.16529A>G (p.Tyr5510Cys)
|
rs1383821738
|
|
NM_003482.4(KMT2D):c.1844C>G (p.Ser615Cys)
|
rs1565819202
|
|
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
|
|
|
NM_003491.4(NAA10):c.478C>T (p.Arg160Trp)
|
rs1569546258
|
|
NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs)
|
rs1692335353
|
|
NM_003590.5(CUL3):c.493_494del (p.Leu165fs)
|
rs1553523940
|
|
NM_003590.5(CUL3):c.562C>T (p.Gln188Ter)
|
rs2106221030
|
|
NM_003632.2(CNTNAP1):c.[1869G>A];[967T>C]
|
|
|
NM_003718.5(CDK13):c.2317G>C (p.Asp773His)
|
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_003793.4(CTSF):c.1159G>A (p.Glu387Lys)
|
rs2134950483
|
|
NM_003793.4(CTSF):c.600_603del (p.Glu202fs)
|
rs2134954582
|
|
NM_003922.4(HERC1):c.10475T>C (p.Val3492Ala)
|
rs752824148
|
|
NM_004068.4(AP2M1):c.238G>A (p.Glu80Lys)
|
rs2109029641
|
|
NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp)
|
rs1064795235
|
|
NM_004113.6(FGF12):c.155G>A (p.Arg52His)
|
rs886039903
|
|
NM_004114.5(FGF13):c.32G>A (p.Arg11His)
|
rs2090039732
|
|
NM_004187.5(KDM5C):c.1243-2A>G
|
rs1569274606
|
|
NM_004187.5(KDM5C):c.2517-7_2517-6insTAG
|
rs2146844967
|
|
NM_004211.5(SLC6A5):c.677G>A (p.Gly226Glu)
|
rs1565271429
|
|
NM_004229.4(MED14):c.4036G>A (p.Ala1346Thr)
|
rs2146606969
|
|
NM_004247.4(EFTUD2):c.1058+1G>A
|
rs1085307647
|
|
NM_004247.4(EFTUD2):c.1414-2A>G
|
rs1597797917
|
|
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)
|
rs869025340
|
|
NM_004370.6(COL12A1):c.9053G>A (p.Gly3018Asp)
|
rs2149322991
|
|
NM_004380.3(CREBBP):c.4133G>A (p.Arg1378Gln)
|
rs121434626
|
|
NM_004380.3(CREBBP):c.5071A>T (p.Met1691Leu)
|
rs1231818807
|
|
NM_004380.3(CREBBP):c.5219A>G (p.His1740Arg)
|
rs1567263724
|
|
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)
|
rs1567263168
|
|
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)
|
rs760270633
|
|
NM_004456.5(EZH2):c.457T>C (p.Tyr153His)
|
rs2129476917
|
|
NM_004463.3(FGD1):c.557G>A (p.Arg186His)
|
rs1277307657
|
|
NM_004519.4(KCNQ3):c.994A>T (p.Ile332Phe)
|
rs1563787859
|
|
NM_004523.4(KIF11):c.758_767dup (p.Lys257fs)
|
rs2135904903
|
|
NM_004606.5(TAF1):c.4312C>T (p.Arg1438Cys)
|
rs1569313767
|
|
NM_004630.4(SF1):c.221del (p.Pro74fs)
|
rs1430022410
|
|
NM_004656.4(BAP1):c.146T>C (p.Leu49Pro)
|
rs2153228340
|
|
NM_004656.4(BAP1):c.176G>C (p.Arg59Pro)
|
rs1298276806
|
|
NM_004656.4(BAP1):c.2153G>A (p.Arg718Gln)
|
rs1440748203
|
|
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg)
|
rs1705222655
|
|
NM_004656.4(BAP1):c.271T>G (p.Cys91Gly)
|
rs1705222655
|
|
NM_004656.4(BAP1):c.272G>C (p.Cys91Ser)
|
rs1559591264
|
|
NM_004656.4(BAP1):c.34C>A (p.Pro12Thr)
|
rs2153228682
|
|
NM_004656.4(BAP1):c.34C>G (p.Pro12Ala)
|
rs2153228682
|
|
NM_004656.4(BAP1):c.506A>G (p.His169Arg)
|
rs2153227828
|
|
NM_004656.4(BAP1):c.91G>A (p.Glu31Lys)
|
rs2153228535
|
|
NM_004793.4(LONP1):c.2026C>T (p.Pro676Ser)
|
rs879255247
|
|
NM_004859.4(CLTC):c.3367_3368del (p.Glu1123fs)
|
rs2143592425
|
|
NM_004958.4(MTOR):c.5698C>T (p.Leu1900Phe)
|
rs1643023228
|
|
NM_004973.4(JARID2):c.176_177del (p.Val59fs)
|
rs2127515878
|
|
NM_004973.4(JARID2):c.2731+1G>C
|
rs2127756207
|
|
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
|
|
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)
|
rs786205232
|
|
NM_004974.4(KCNA2):c.894_895delinsTT (p.Leu298_Val299delinsPheLeu)
|
rs2101398625
|
|
NM_004975.4(KCNB1):c.935G>A (p.Arg312His)
|
rs1555889127
|
|
NM_004977.3(KCNC3):c.1344C>G (p.Phe448Leu)
|
rs104894700
|
|
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg)
|
rs1131691683
|
|
NM_005121.3(MED13):c.1771C>T (p.Gln591Ter)
|
rs752067544
|
|
NM_005121.3(MED13):c.5255A>G (p.Asp1752Gly)
|
rs1338316283
|
|
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)
|
rs267606706
|
|
NM_005249.5(FOXG1):c.1414_1417del (p.Ser472fs)
|
rs1881828200
|
|
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe)
|
rs1566445489
|
|
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro)
|
rs1555321353
|
|
NM_005253.4(FOSL2):c.810_811del (p.Pro271fs)
|
rs2148100720
|
|
NM_005262.3(GFER):c.559G>T (p.Asp187Tyr)
|
rs1028553365
|
|
NM_005321.3(H1-4):c.441dup (p.Lys148fs)
|
rs1131690806
|
|
NM_005321.3(H1-4):c.464dup (p.Lys157fs)
|
rs1581429554
|
|
NM_005333.5(HCCS):c.161C>T (p.Pro54Leu)
|
rs1555955059
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005392.4(PHF2):c.1475dup (p.Thr493fs)
|
|
|
NM_005412.6(SHMT2):c.1135A>G (p.Asn379Asp)
|
rs2037432429
|
|
NM_005412.6(SHMT2):c.557C>G (p.Thr186Arg)
|
rs769908186
|
|
NM_005445.4(SMC3):c.631G>T (p.Ala211Ser)
|
|
|
NM_005458.8(GABBR2):c.1844G>A (p.Trp615Ter)
|
rs1831608735
|
|
NM_005629.4(SLC6A8):c.1252C>A (p.Gln418Lys)
|
rs2148363775
|
|
NM_005629.4(SLC6A8):c.1553G>T (p.Trp518Leu)
|
rs1569539454
|
|
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs)
|
rs1603216806
|
|
NM_005639.3(SYT1):c.1127_1128dup (p.Val377fs)
|
rs1565962778
|
|
NM_005639.3(SYT1):c.476T>G (p.Leu159Arg)
|
rs2138866856
|
|
NM_005859.5(PURA):c.265G>A (p.Ala89Thr)
|
rs587782999
|
|
NM_005862.3(STAG1):c.132+5G>A
|
rs2107831013
|
|
NM_005862.3(STAG1):c.2241G>A (p.Trp747Ter)
|
rs1553801881
|
|
NM_005862.3(STAG1):c.2503G>A (p.Asp835Asn)
|
rs1937195341
|
|
NM_005862.3(STAG1):c.964_965insCT (p.Tyr322fs)
|
rs2107821339
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006015.6(ARID1A):c.2149G>A (p.Ala717Thr)
|
rs2124057017
|
|
NM_006078.5(CACNG2):c.436+1G>A
|
rs2145905176
|
|
NM_006086.4(TUBB3):c.1188C>G (p.His396Gln)
|
|
|
NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met)
|
rs587777468
|
|
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)
|
rs886041091
|
|
NM_006196.4(PCBP1):c.137G>A (p.Arg46Gln)
|
rs2104759178
|
|
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)
|
rs1762178916
|
|
NM_006265.3(RAD21):c.1142G>A (p.Trp381Ter)
|
rs1812418017
|
|
NM_006306.4(SMC1A):c.1732-2A>G
|
rs1556889599
|
|
NM_006306.4(SMC1A):c.2562+1G>A
|
rs1556888550
|
|
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)
|
rs1064794325
|
|
NM_006506.5(RASA2):c.1376A>C (p.Tyr459Ser)
|
rs756067549
|
|
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln)
|
rs2147777346
|
|
NM_006593.4(TBR1):c.1174C>T (p.Arg392Trp)
|
rs2105280472
|
|
NM_006593.4(TBR1):c.1190+5G>A
|
rs2105280484
|
|
NM_006766.5(KAT6A):c.1506del (p.Asp503fs)
|
rs2150871384
|
|
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter)
|
rs786200961
|
|
NM_006766.5(KAT6A):c.5701del (p.Val1901fs)
|
rs2150854704
|
|
NM_006772.3(SYNGAP1):c.3405G>C (p.Lys1135Asn)
|
rs1561790136
|
|
NM_006772.3(SYNGAP1):c.388-3C>G
|
rs1448169616
|
|
NM_006772.3(SYNGAP1):c.718_719del (p.Asp240fs)
|
rs1777306901
|
|
NM_006772.3(SYNGAP1):c.790_798del (p.Leu264_Leu266del)
|
rs1554121164
|
|
NM_006772.3(SYNGAP1):c.936dup (p.Glu313fs)
|
rs2151168879
|
|
NM_006852.6(TLK2):c.1771del (p.Asp591fs)
|
rs2082914363
|
|
NM_006852.6(TLK2):c.717_718del (p.Arg240fs)
|
rs2146228345
|
|
NM_006852.6(TLK2):c.777C>A (p.Tyr259Ter)
|
rs1567920106
|
|
NM_006852.6(TLK2):c.968+1G>C
|
rs1598620094
|
|
NM_006940.6(SOX5):c.1764G>C (p.Lys588Asn)
|
rs1565669269
|
|
NM_007118.4(TRIO):c.2359C>T (p.Gln787Ter)
|
rs1554062588
|
|
NM_007118.4(TRIO):c.2987G>A (p.Trp996Ter)
|
rs1554064737
|
|
NM_007118.4(TRIO):c.4406A>G (p.His1469Arg)
|
rs1554070777
|
|
NM_007118.4(TRIO):c.5879A>C (p.Glu1960Ala)
|
rs2126551592
|
|
NM_007192.4(SUPT16H):c.2515G>A (p.Glu839Lys)
|
rs2139397532
|
|
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu)
|
rs1569442989
|
|
NM_007327.4(GRIN1):c.2479G>A (p.Gly827Arg)
|
rs1451230055
|
|
NM_007363.5(NONO):c.142G>T (p.Ala48Ser)
|
rs1569238685
|
|
NM_012154.5(AGO2):c.2140C>T (p.Arg714Trp)
|
rs866981753
|
|
NM_012330.4(KAT6B):c.3349_3350del (p.Gln1117fs)
|
|
|
NM_012330.4(KAT6B):c.5058C>A (p.Tyr1686Ter)
|
rs1381894692
|
|
NM_012479.4(YWHAG):c.395G>A (p.Arg132His)
|
rs1583981615
|
|
NM_013275.6(ANKRD11):c.1285_1286del (p.Ser429fs)
|
rs1597465419
|
|
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs)
|
rs1597464953
|
|
NM_013275.6(ANKRD11):c.3425_3431delinsTCCGTCCTG (p.Asp1142fs)
|
rs1567573538
|
|
NM_013275.6(ANKRD11):c.5469del (p.Met1825fs)
|
|
|
NM_013275.6(ANKRD11):c.6288_6289insT (p.Pro2097fs)
|
|
|
NM_013275.6(ANKRD11):c.6340C>T (p.Gln2114Ter)
|
rs1555525792
|
|
NM_013275.6(ANKRD11):c.6923del (p.Gly2308fs)
|
rs2151732245
|
|
NM_013275.6(ANKRD11):c.6928_6934del (p.Ile2310fs)
|
rs2151732133
|
|
NM_013275.6(ANKRD11):c.7168C>T (p.Gln2390Ter)
|
rs2151730424
|
|
NM_013328.4(PYCR2):c.138+1G>T
|
rs1473859981
|
|
NM_014008.5(CCDC22):c.1229G>A (p.Ser410Asn)
|
rs1569529393
|
|
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln)
|
rs2066044949
|
|
NM_014159.7(SETD2):c.1328G>A (p.Arg443Lys)
|
rs2106700573
|
|
NM_014159.7(SETD2):c.5218C>G (p.Arg1740Gly)
|
rs1057523157
|
|
NM_014159.7(SETD2):c.7438_7439insG (p.Gln2480fs)
|
rs1559634490
|
|
NM_014225.6(PPP2R1A):c.522C>G (p.Cys174Trp)
|
rs2122334423
|
|
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro)
|
rs2089686081
|
|
NM_014232.3(VAMP2):c.60del (p.Ala21fs)
|
rs2151865530
|
|
NM_014233.4(UBTF):c.1375_1380delinsT (p.Arg459fs)
|
rs2144532981
|
|
NM_014370.4(SRPK3):c.806A>C (p.Lys269Thr)
|
|
|
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
|
rs1673582111
|
|
NM_014489.4(PGAP2):c.380C>T (p.Ala127Val)
|
rs752346360
|
|
NM_014515.7(CNOT2):c.1621dup (p.Ter541LeuextTer?)
|
rs2136104001
|
|
NM_014516.4(CNOT3):c.1979_1980del (p.Val660fs)
|
rs2075208108
|
|
NM_014712.3(SETD1A):c.3243del (p.Arg1082fs)
|
rs2143538061
|
|
NM_014717.3(ZNF536):c.1015G>T (p.Glu339Ter)
|
rs774965623
|
|
NM_014795.4(ZEB2):c.1384_1385del (p.Lys462fs)
|
|
|
NM_014795.4(ZEB2):c.3088C>T (p.Gln1030Ter)
|
rs903815010
|
|
NM_014795.4(ZEB2):c.3149C>G (p.Ser1050Trp)
|
rs1226638635
|
|
NM_014795.4(ZEB2):c.3169T>C (p.Cys1057Arg)
|
rs1560602214
|
|
NM_014795.4(ZEB2):c.3214C>T (p.Gln1072Ter)
|
rs1703133912
|
|
NM_014795.4(ZEB2):c.659A>G (p.Tyr220Cys)
|
rs1560609238
|
|
NM_014921.5(ADGRL1):c.3427C>T (p.Arg1143Ter)
|
|
|
NM_014927.5(CNKSR2):c.2300C>T (p.Ser767Phe)
|
rs1569272271
|
|
NM_014946.4(SPAST):c.167C>A (p.Pro56Gln)
|
rs1676399509
|
|
NM_014974.3(DIP2C):c.2208_2209dup (p.Ala737fs)
|
rs779890829
|
|
NM_014974.3(DIP2C):c.2232del (p.Tyr745fs)
|
|
|
NM_014974.3(DIP2C):c.3757C>T (p.Arg1253Ter)
|
rs2132443689
|
|
NM_014974.3(DIP2C):c.4314C>G (p.Tyr1438Ter)
|
rs766542518
|
|
NM_014991.6(WDFY3):c.4592+1G>A
|
|
|
NM_014991.6(WDFY3):c.7676A>G (p.Lys2559Arg)
|
rs2149066183
|
|
NM_015015.3(KDM4B):c.1135C>T (p.Gln379Ter)
|
rs2146018043
|
|
NM_015021.3(ZNF292):c.4839_4840del (p.Asn1614fs)
|
rs2127867376
|
|
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)
|
rs1301328139
|
|
NM_015076.5(CDK19):c.764T>C (p.Ile255Thr)
|
rs2114669112
|
|
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)
|
rs1057518170
|
|
NM_015100.4(POGZ):c.1535A>G (p.His512Arg)
|
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
NM_015100.4(POGZ):c.3914T>G (p.Leu1305Arg)
|
rs1557863033
|
|
NM_015100.4(POGZ):c.712C>T (p.Arg238Ter)
|
rs1557910873
|
|
NM_015215.4(CAMTA1):c.2871_2883del (p.Thr959fs)
|
rs2096136332
|
|
NM_015215.4(CAMTA1):c.487C>G (p.Arg163Gly)
|
|
|
NM_015335.5(MED13L):c.1109_1110del (p.Pro370fs)
|
rs1566011496
|
|
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter)
|
rs2137378964
|
|
NM_015335.5(MED13L):c.2570-1G>T
|
rs2137331044
|
|
NM_015335.5(MED13L):c.2950C>T (p.Gln984Ter)
|
rs1376289620
|
|
NM_015335.5(MED13L):c.3760_3761del (p.Leu1254fs)
|
rs2137305263
|
|
NM_015335.5(MED13L):c.3911_3912del (p.Val1304fs)
|
rs1555244975
|
|
NM_015335.5(MED13L):c.4814C>G (p.Ser1605Ter)
|
rs1877459454
|
|
NM_015335.5(MED13L):c.626-2A>G
|
rs1555249664
|
|
NM_015335.5(MED13L):c.73-1G>A
|
rs1555225472
|
|
NM_015355.4(SUZ12):c.1561_1562del (p.Lys521fs)
|
rs1909882416
|
|
NM_015386.3(COG4):c.2005G>C (p.Ala669Pro)
|
rs1555573157
|
|
NM_015386.3(COG4):c.2286_2299del (p.Trp762fs)
|
rs1555572987
|
|
NM_015409.5(EP400):c.3349_3352del (p.Leu1117fs)
|
rs2136530742
|
|
NM_015409.5(EP400):c.6538G>T (p.Glu2180Ter)
|
rs1234659324
|
|
NM_015557.3(CHD5):c.4171+5G>A
|
rs2100843378
|
|
NM_015559.3(SETBP1):c.3155_3159del (p.Gly1052fs)
|
rs2145110485
|
|
NM_015559.3(SETBP1):c.3434G>A (p.Gly1145Asp)
|
rs1555707417
|
|
NM_015570.4(AUTS2):c.1298del (p.Leu433fs)
|
rs1057518198
|
|
NM_015909.4(NBAS):c.603_605del (p.Leu202del)
|
rs796065038
|
|
NM_015981.4(CAMK2A):c.1237+1G>A
|
rs113331868
|
|
NM_015981.4(CAMK2A):c.1409A>G (p.Asp470Gly)
|
|
|
NM_015981.4(CAMK2A):c.293T>C (p.Phe98Ser)
|
rs1554122526
|
|
NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp)
|
rs1287121256
|
|
NM_015981.4(CAMK2A):c.548A>T (p.Glu183Val)
|
rs1554122129
|
|
NM_015981.4(CAMK2A):c.598+2dup
|
rs1554122123
|
|
NM_015981.4(CAMK2A):c.635C>T (p.Pro212Leu)
|
rs926027867
|
|
NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu)
|
rs864309606
|
|
NM_015981.4(CAMK2A):c.845A>G (p.His282Arg)
|
rs1554121875
|
|
NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro)
|
rs1554121872
|
|
NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs)
|
rs759317757
|
|
NM_016032.4(ZDHHC9):c.496G>C (p.Asp166His)
|
|
|
NM_016120.4(RLIM):c.659G>A (p.Arg220Lys)
|
rs1569310039
|
|
NM_016169.4(SUFU):c.555dup (p.Gln186fs)
|
rs2135867122
|
|
NM_016219.5(MAN1B1):c.1581C>G (p.Cys527Trp)
|
rs1405146099
|
|
NM_016219.5(MAN1B1):c.244C>T (p.Gln82Ter)
|
rs1830422749
|
|
NM_016281.4(TAOK3):c.1009del (p.Ser336_Leu337insTer)
|
rs2139244484
|
|
NM_016284.5(CNOT1):c.820C>T (p.Arg274Cys)
|
|
|
NM_016333.4(SRRM2):c.1882C>T (p.Arg628Ter)
|
rs1464581573
|
|
NM_016333.4(SRRM2):c.2214_2215del (p.Arg739fs)
|
rs2150775947
|
|
NM_016333.4(SRRM2):c.2782_2785del (p.Arg928fs)
|
rs2150776380
|
|
NM_016333.4(SRRM2):c.2970_2971del (p.Gly991fs)
|
rs2150776534
|
|
NM_016333.4(SRRM2):c.3346C>T (p.Gln1116Ter)
|
rs2150776793
|
|
NM_016333.4(SRRM2):c.3426_3427del (p.Ser1143fs)
|
rs2150776824
|
|
NM_016333.4(SRRM2):c.4200_4203dup (p.Ile1402fs)
|
rs2150777403
|
|
NM_016333.4(SRRM2):c.4512_4578del (p.Asn1506fs)
|
rs2150777611
|
|
NM_016333.4(SRRM2):c.4528_4529del (p.Leu1510fs)
|
rs2150777620
|
|
NM_016333.4(SRRM2):c.4616C>A (p.Ser1539Ter)
|
rs760736029
|
|
NM_016333.4(SRRM2):c.4913C>G (p.Ser1638Ter)
|
rs2150777933
|
|
NM_016333.4(SRRM2):c.5074C>T (p.Arg1692Ter)
|
rs2150778065
|
|
NM_016333.4(SRRM2):c.5410_5411dup (p.Ser1804fs)
|
rs2150778293
|
|
NM_016333.4(SRRM2):c.58C>T (p.Gln20Ter)
|
rs764663923
|
|
NM_016333.4(SRRM2):c.6042_6043del (p.Arg2015fs)
|
rs2150778741
|
|
NM_016333.4(SRRM2):c.6127C>T (p.Arg2043Ter)
|
rs747576963
|
|
NM_016333.4(SRRM2):c.6265C>T (p.Arg2089Ter)
|
rs2150778921
|
|
NM_016333.4(SRRM2):c.6709dup (p.Ala2237fs)
|
rs2150779172
|
|
NM_016333.4(SRRM2):c.7254_7257del (p.Met2419fs)
|
rs2150779549
|
|
NM_016343.4(CENPF):c.1324-2A>G
|
rs1553287472
|
|
NM_016604.4(KDM3B):c.331C>T (p.Arg111Ter)
|
rs2126922810
|
|
NM_016604.4(KDM3B):c.3910C>T (p.Leu1304Phe)
|
rs2126994232
|
|
NM_016628.5(WAC):c.381+4_381+7del
|
rs1564400647
|
|
NM_016628.5(WAC):c.485_486del (p.Glu162fs)
|
|
|
NM_016628.5(WAC):c.506_507del (p.Arg169fs)
|
|
|
NM_017635.5(KMT5B):c.1331C>G (p.Pro444Arg)
|
rs1030358713
|
|
NM_017635.5(KMT5B):c.813A>G (p.Ile271Met)
|
rs1565226034
|
|
NM_017736.5(THUMPD1):c.303_306del (p.Glu102fs)
|
rs2152419456
|
|
NM_017736.5(THUMPD1):c.469C>T (p.Arg157Ter)
|
rs2152417926
|
|
NM_017736.5(THUMPD1):c.490C>T (p.Pro164Ser)
|
rs151261045
|
|
NM_017736.5(THUMPD1):c.495dup (p.Ser166fs)
|
rs2152417882
|
|
NM_017736.5(THUMPD1):c.634dup (p.Glu212fs)
|
rs2152417708
|
|
NM_017736.5(THUMPD1):c.771GTT[1] (p.Leu258del)
|
rs772419789
|
|
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs)
|
rs386834015
|
|
NM_017739.4(POMGNT1):c.1526A>G (p.Asn509Ser)
|
rs1557671443
|
|
NM_017780.4(CHD7):c.2219A>G (p.Asp740Gly)
|
rs761748737
|
|
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys)
|
rs1064794250
|
|
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter)
|
rs587783455
|
|
NM_017872.5(THG1L):c.182A>C (p.Asn61Thr)
|
rs2113025862
|
|
NM_017882.3(CLN6):c.782T>C (p.Phe261Ser)
|
rs2141136011
|
|
NM_017882.3(CLN6):c.818T>C (p.Val273Ala)
|
rs2141135967
|
|
NM_017934.7(PHIP):c.5021del (p.Asp1673_Leu1674insTer)
|
rs2127677696
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018026.4(PACS1):c.1862C>T (p.Pro621Leu)
|
rs1554993480
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018263.6(ASXL2):c.2851C>T (p.Pro951Ser)
|
|
|
NM_018486.3(HDAC8):c.415G>A (p.Gly139Arg)
|
rs2147590837
|
|
NM_018489.3(ASH1L):c.1632del (p.Lys544fs)
|
rs1558151861
|
|
NM_018489.3(ASH1L):c.2201T>C (p.Leu734Pro)
|
rs889968109
|
|
NM_018489.3(ASH1L):c.3860_3861del (p.Phe1287fs)
|
|
|
NM_018489.3(ASH1L):c.5506C>T (p.Gln1836Ter)
|
rs1558105796
|
|
NM_018489.3(ASH1L):c.6136C>T (p.Gln2046Ter)
|
|
|
NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser)
|
rs398122939
|
|
NM_019066.5(MAGEL2):c.1542G>T (p.Trp514Cys)
|
rs2140715759
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_020191.4(MRPS22):c.938C>A (p.Ser313Ter)
|
rs147932653
|
|
NM_020338.4(ZMIZ1):c.3150dup (p.Asp1051fs)
|
|
|
NM_020699.4(GATAD2B):c.1261dup (p.Ala421fs)
|
rs1553187583
|
|
NM_020706.2(SCAF4):c.1322G>C (p.Arg441Thr)
|
rs2123543369
|
|
NM_020765.3(UBR4):c.10821C>T (p.Asn3607=)
|
rs2149407177
|
|
NM_020778.5(ALPK3):c.4154del (p.Pro1385fs)
|
rs568699617
|
|
NM_020791.4(TAOK1):c.1303C>T (p.Arg435Ter)
|
rs2153028697
|
|
NM_020791.4(TAOK1):c.1436dup (p.Met479fs)
|
rs2153029219
|
|
NM_020791.4(TAOK1):c.210G>A (p.Trp70Ter)
|
rs2153026442
|
|
NM_020791.4(TAOK1):c.2161C>T (p.Gln721Ter)
|
rs2150772043
|
|
NM_020922.5(WNK3):c.1089+1G>A
|
|
|
NM_020922.5(WNK3):c.1820A>T (p.Glu607Val)
|
|
|
NM_020922.5(WNK3):c.538-2A>G
|
|
|
NM_020922.5(WNK3):c.611C>G (p.Pro204Arg)
|
|
|
NM_020922.5(WNK3):c.721C>T (p.Arg241Ter)
|
|
|
NM_020922.5(WNK3):c.899T>C (p.Leu300Ser)
|
|
|
NM_020928.2(ZSWIM6):c.3488G>A (p.Arg1163Gln)
|
rs2112298347
|
|
NM_020944.3(GBA2):c.2330A>C (p.His777Pro)
|
|
|
NM_020944.3(GBA2):c.2617C>T (p.Arg873Cys)
|
|
|
NM_021005.4(NR2F2):c.269A>G (p.His90Arg)
|
rs2141166925
|
|
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu)
|
rs1590017652
|
|
NM_021008.4(DEAF1):c.661T>C (p.Ser221Pro)
|
rs1860668289
|
|
NM_021120.4(DLG3):c.2348-42_2348-4delinsAAGAGGAAAACAAAATTATTACTGTATACAG
|
rs2147896811
|
|
NM_021160.3(ABHD16A):c.19T>C (p.Cys7Arg)
|
rs2151263491
|
|
NM_021224.6(ZNF462):c.831_834del (p.Arg277fs)
|
rs1554703226
|
|
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs)
|
rs753460205
|
|
NM_022095.4(ZNF335):c.3101T>C (p.Met1034Thr)
|
rs1555845134
|
|
NM_022455.5(NSD1):c.2615T>G (p.Leu872Ter)
|
rs1581321573
|
|
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)
|
rs587784209
|
|
NM_022455.5(NSD1):c.6655del (p.Arg2219fs)
|
rs2127279646
|
|
NM_022552.5(DNMT3A):c.2390A>G (p.Asn797Ser)
|
|
|
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)
|
rs377577594
|
|
NM_022552.5(DNMT3A):c.2693T>C (p.Ile898Thr)
|
rs960019580
|
|
NM_022552.5(DNMT3A):c.911_913del (p.Ser304del)
|
rs1674984864
|
|
NM_024665.7(TBL1XR1):c.517T>C (p.Phe173Leu)
|
rs1560117033
|
|
NM_024665.7(TBL1XR1):c.803C>T (p.Pro268Leu)
|
rs2108479510
|
|
NM_024757.5(EHMT1):c.2624C>G (p.Thr875Arg)
|
rs1953423865
|
|
NM_024757.5(EHMT1):c.2712+1G>A
|
rs1057518849
|
|
NM_024757.5(EHMT1):c.3325T>C (p.Cys1109Arg)
|
rs2132759440
|
|
NM_024757.5(EHMT1):c.3897_*6del (p.Ter1299TrpextTer?)
|
rs2133163719
|
|
NM_024757.5(EHMT1):c.40del (p.Glu14fs)
|
rs1564618717
|
|
NM_024757.5(EHMT1):c.555del (p.Asp185fs)
|
rs1945399452
|
|
NM_024989.4(PGAP1):c.1351-1G>T
|
|
|
NM_024989.4(PGAP1):c.1706C>T (p.Thr569Met)
|
|
|
NM_025150.5(TARS2):c.388-1G>C
|
rs2102476204
|
|
NM_030632.3(ASXL3):c.1534_1535del (p.Leu512fs)
|
rs1555742212
|
|
NM_030632.3(ASXL3):c.3403_3405delinsCC (p.Ser1135fs)
|
rs2145424188
|
|
NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter)
|
rs1204482456
|
|
NM_030632.3(ASXL3):c.4605_4606dup (p.Ser1536fs)
|
rs1599574430
|
|
NM_030665.4(RAI1):c.4519_4547dup (p.Cys1516fs)
|
|
|
NM_030665.4(RAI1):c.5638T>C (p.Tyr1880His)
|
rs1567936444
|
|
NM_030954.4(RNF170):c.342C>G (p.Tyr114Ter)
|
rs2128929811
|
|
NM_030973.4(MED25):c.275A>G (p.Tyr92Cys)
|
rs549136898
|
|
NM_031206.7(LAS1L):c.1396G>T (p.Val466Phe)
|
rs2148286671
|
|
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp)
|
rs121918525
|
|
NM_031407.7(HUWE1):c.12624C>G (p.His4208Gln)
|
rs1395806356
|
|
NM_031407.7(HUWE1):c.1627A>G (p.Ile543Val)
|
rs2066367374
|
|
NM_031844.3(HNRNPU):c.1743G>C (p.Gln581His)
|
rs1553282372
|
|
NM_032436.4(CHAMP1):c.969G>A (p.Trp323Ter)
|
rs2139419874
|
|
NM_032531.4(KIRREL3):c.2191G>T (p.Val731Phe)
|
rs119462980
|
|
NM_032737.4(LMNB2):c.119G>T (p.Arg40Leu)
|
|
|
NM_032737.4(LMNB2):c.236C>T (p.Ser79Leu)
|
|
|
NM_032776.3(JMJD1C):c.7225-2A>G
|
rs2132807373
|
|
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|
NM_033629.6(TREX1):c.82del (p.Gln28fs)
|
|
|
NM_052867.4(NALCN):c.4654G>A (p.Glu1552Lys)
|
rs2139408863
|
|
NM_052874.5(STX1B):c.140C>A (p.Ser47Ter)
|
rs200979563
|
|
NM_052874.5(STX1B):c.821T>C (p.Leu274Pro)
|
|
|
NM_052876.4(NACC1):c.133C>T (p.Arg45Trp)
|
rs1555722264
|
|
NM_057175.5(NAA15):c.1410+1G>T
|
|
|
NM_057175.5(NAA15):c.1841del (p.Asn614fs)
|
|
|
NM_057175.5(NAA15):c.218T>C (p.Leu73Ser)
|
rs2110902008
|
|
NM_057175.5(NAA15):c.426G>T (p.Gln142His)
|
rs2110915299
|
|
NM_057175.5(NAA15):c.430C>T (p.Arg144Ter)
|
rs1560966086
|
|
NM_078480.3(PUF60):c.1187C>A (p.Ser396Ter)
|
rs1816412380
|
|
NM_080632.3(UPF3B):c.1265AAG[2] (p.Glu424del)
|
rs2056115071
|
|
NM_080632.3(UPF3B):c.263+3A>T
|
rs2147802765
|
|
NM_130837.3(OPA1):c.1051G>C (p.Asp351His)
|
rs1577228080
|
|
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)
|
rs587781239
|
|
NM_133433.4(NIPBL):c.5427+3A>G
|
rs1363419528
|
|
NM_133433.4(NIPBL):c.7861-1G>T
|
|
|
NM_134261.3(RORA):c.626_627del (p.Pro209fs)
|
rs2141319872
|
|
NM_134261.3(RORA):c.900G>A (p.Trp300Ter)
|
rs2141286330
|
|
NM_138576.4(BCL11B):c.2348del (p.Gly783fs)
|
rs1886399419
|
|
NM_138927.4(SON):c.3848del (p.Cys1283fs)
|
rs1555898930
|
|
NM_145059.3(FCSK):c.3164A>G (p.Asn1055Ser)
|
|
|
NM_145059.3(FCSK):c.506G>A (p.Arg169Gln)
|
|
|
NM_145207.3(AFG2A):c.2174T>C (p.Phe725Ser)
|
|
|
NM_145716.4(SSBP3):c.177del (p.Leu59fs)
|
rs2100828944
|
|
NM_152383.5(DIS3L2):c.1232C>A (p.Ala411Asp)
|
rs2106252250
|
|
NM_152641.4(ARID2):c.2734C>T (p.Gln912Ter)
|
rs2138165644
|
|
NM_152641.4(ARID2):c.4923-1G>C
|
rs79280775
|
|
NM_152641.4(ARID2):c.5305C>T (p.Arg1769Ter)
|
rs774801990
|
|
NM_153252.5(BRWD3):c.3413G>A (p.Trp1138Ter)
|
|
|
NM_153816.6(SNX14):c.512del (p.Arg171fs)
|
rs769742160
|
|
NM_170606.3(KMT2C):c.1185-20_1185-7del
|
rs1563639759
|
|
NM_170606.3(KMT2C):c.14108T>G (p.Val4703Gly)
|
rs2129093306
|
|
NM_170606.3(KMT2C):c.7825C>T (p.Arg2609Ter)
|
rs2129115127
|
|
NM_170606.3(KMT2C):c.9517+5G>A
|
|
|
NM_170675.5(MEIS2):c.978-2A>G
|
rs1555418998
|
|
NM_171825.2(CAMK2A):c.65del
|
rs1554123982
|
|
NM_171998.4(RAB39B):c.189G>T (p.Trp63Cys)
|
rs1569561107
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.880dup (p.Ala294fs)
|
|
|
NM_172362.3(KCNH1):c.1136T>C (p.Leu379Pro)
|
rs878853026
|
|
NM_172362.3(KCNH1):c.881C>T (p.Thr294Met)
|
rs1558569964
|
|
NM_173495.3(PTCHD1):c.2351_2352insCAT (p.Thr784_Lys785insIle)
|
|
|
NM_173495.3(PTCHD1):c.2525dup (p.Leu842fs)
|
rs1922905471
|
|
NM_173630.4(RTTN):c.4295G>A (p.Arg1432His)
|
rs1465962355
|
|
NM_173630.4(RTTN):c.5469_5470del (p.Val1824fs)
|
rs1555704436
|
|
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys)
|
rs869312849
|
|
NM_177559.3(CSNK2A1):c.193GTT[2] (p.Val67del)
|
|
|
NM_177559.3(CSNK2A1):c.193del (p.Val65fs)
|
rs2018548367
|
|
NM_177559.3(CSNK2A1):c.511-3C>G
|
rs1568507974
|
|
NM_177559.3(CSNK2A1):c.526T>C (p.Trp176Arg)
|
rs1555762737
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_178012.5(TUBB2B):c.205G>C (p.Glu69Gln)
|
rs1554126964
|
|
NM_178014.4(TUBB):c.424G>T (p.Gly142Cys)
|
rs1776430407
|
|
NM_178014.4(TUBB):c.647A>G (p.Lys216Arg)
|
rs1059145
|
|
NM_181552.4(CUX1):c.1576del (p.Ser526fs)
|
rs2131983329
|
|
NM_181552.4(CUX1):c.1687C>T (p.Gln563Ter)
|
rs1794879475
|
|
NM_181552.4(CUX1):c.3164dup (p.Ala1056fs)
|
rs1563446668
|
|
NM_182641.4(BPTF):c.3805_3806del (p.Leu1269fs)
|
rs2146930662
|
|
NM_182641.4(BPTF):c.7747_7750del (p.Asp2583fs)
|
|
|
NM_182710.3(KAT5):c.1622G>C (p.Ser541Thr)
|
|
|
NM_182931.3(KMT2E):c.5226dup (p.Pro1743fs)
|
rs2129570272
|
|
NM_182931.3(KMT2E):c.685A>T (p.Lys229Ter)
|
rs2129567978
|
|
NM_197968.4(ZMYM2):c.1013T>G (p.Leu338Ter)
|
|
|
NM_197968.4(ZMYM2):c.1020_1024dup (p.Gln342fs)
|
rs2139911544
|
|
NM_197968.4(ZMYM2):c.1397dup (p.Cys466fs)
|
rs2139974701
|
|
NM_197968.4(ZMYM2):c.3388C>T (p.Arg1130Ter)
|
rs1299725201
|
|
NM_198576.4(AGRN):c.5909A>G (p.Asn1970Ser)
|
rs1167765853
|
|
NM_199334.5(THRA):c.1132_1141del (p.Gly378fs)
|
rs2145087228
|
|
NM_199334.5(THRA):c.814G>A (p.Asp272Asn)
|
rs2145085076
|
|
NM_203475.3(PORCN):c.395T>G (p.Met132Arg)
|
rs1569477854
|
|