ClinVar Miner

List of variants reported by Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 834
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HGVS dbSNP gnomAD frequency
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

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