ClinVar Miner

List of variants studied for Neurodevelopmental disorder

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ClinVar version:
Total variants: 1024
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HGVS dbSNP gnomAD frequency
NM_017970.4(NRDE2):c.1412-467G>A rs8020828 0.28604
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_198510.3(ITIH6):c.1739G>A (p.Arg580His) rs146289175 0.00734
NM_016642.4(SPTBN5):c.8809A>T (p.Asn2937Tyr) rs200163654 0.00487
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_001114633.2(PLA2G4B):c.2305C>T (p.Arg769Cys) rs150600168 0.00199
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00085
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00074
NM_032885.6(ATG4D):c.266G>A (p.Ser89Asn) rs200278873 0.00074
NM_015557.3(CHD5):c.5249C>T (p.Thr1750Met) rs139581412 0.00064
NM_001115016.3(KANSL3):c.795A>G (p.Pro265=) rs201372384 0.00061
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00056
NM_013450.4(BAZ2B):c.3418G>T (p.Val1140Leu) rs199640978 0.00053
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_001367479.1(DNAH14):c.5218A>G (p.Arg1740Gly) rs190061594 0.00030
NM_001363540.2(DOCK4):c.758C>T (p.Pro253Leu) rs202096330 0.00027
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_001190274.2(FBXO11):c.2491A>G (p.Ser831Gly) rs200771165 0.00023
NM_025004.3(CCDC15):c.541C>T (p.Arg181Cys) rs141915356 0.00023
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_031462.4(CD99L2):c.523G>A (p.Asp175Asn) rs182874251 0.00018
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_001332.4(CTNND2):c.662C>T (p.Pro221Leu) rs1016219246 0.00014
NM_016390.4(SPOUT1):c.598C>T (p.Arg200Trp) rs149761259 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_024516.4(PAGR1):c.274A>G (p.Ser92Gly) rs375215655 0.00009
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548 0.00007
NM_001130053.5(EEF1D):c.1753C>T (p.Arg585Cys) rs780189803 0.00006
NM_020448.5(NIPAL3):c.205G>A (p.Ala69Thr) rs768764094 0.00006
NM_152743.4(BRAT1):c.283-2A>T rs147005619 0.00006
NM_016390.4(SPOUT1):c.940C>T (p.Leu314Phe) rs756797528 0.00005
NM_145207.3(AFG2A):c.251G>A (p.Arg84Gln) rs745858366 0.00005
NM_001128126.3(AP4S1):c.138+1G>A rs200033849 0.00004
NM_001375765.1(GIGYF1):c.332del (p.Leu111fs) rs770150936 0.00004
NM_004793.4(LONP1):c.1271G>A (p.Arg424His) rs748335411 0.00004
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter) rs749465164 0.00004
NM_144775.3(SMCR8):c.2404C>T (p.Arg802Cys) rs368462355 0.00004
NM_001001671.4(MAP3K15):c.2325+1G>T rs150236554 0.00003
NM_001363540.2(DOCK4):c.1258G>A (p.Val420Met) rs768165193 0.00003
NM_001367479.1(DNAH14):c.4862T>A (p.Leu1621Gln) rs1271973468 0.00003
NM_003837.4(FBP2):c.68G>A (p.Arg23His) rs769197968 0.00003
NM_015466.4(PTPN23):c.2680C>T (p.His894Tyr) rs967738491 0.00003
NM_016390.4(SPOUT1):c.1054C>T (p.Arg352Cys) rs374919043 0.00003
NM_016390.4(SPOUT1):c.292G>A (p.Gly98Ser) rs771869476 0.00003
NM_024989.4(PGAP1):c.1706C>T (p.Thr569Met) rs762049431 0.00003
NM_032242.4(PLXNA1):c.2641C>T (p.Arg881Trp) rs762983679 0.00003
NM_032242.4(PLXNA1):c.5632C>T (p.Arg1878Trp) rs149124469 0.00003
NM_145059.3(FCSK):c.506G>A (p.Arg169Gln) rs754115396 0.00003
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.4544A>G (p.His1515Arg) rs371944691 0.00002
NM_004793.4(LONP1):c.2026C>T (p.Pro676Ser) rs879255247 0.00002
NM_016580.4(PCDH12):c.1493G>A (p.Arg498His) rs374457419 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_032242.4(PLXNA1):c.3554G>A (p.Arg1185Gln) rs375833812 0.00002
NM_207312.3(TUBA3E):c.1277C>A (p.Ala426Glu) rs769423615 0.00002
NM_000188.3(HK1):c.1480G>A (p.Glu494Lys) rs1332719473 0.00001
NM_000827.4(GRIA1):c.2092C>T (p.Arg698Trp) rs564265256 0.00001
NM_000875.5(IGF1R):c.3529C>T (p.Arg1177Cys) rs2016422373 0.00001
NM_001039591.3(USP9X):c.7454C>A (p.Pro2485Gln) rs2063351416 0.00001
NM_001040142.2(SCN2A):c.2975C>T (p.Ala992Val) rs1309548488 0.00001
NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp) rs606231455 0.00001
NM_001134407.3(GRIN2A):c.1511G>A (p.Arg504Gln) rs1331671132 0.00001
NM_001162501.2(TNRC6B):c.595G>C (p.Glu199Gln) rs777315934 0.00001
NM_001170629.2(CHD8):c.4448G>C (p.Cys1483Ser) rs1887983148 0.00001
NM_001197104.2(KMT2A):c.4524G>C (p.Glu1508Asp) rs1349887077 0.00001
NM_001206744.2(TPO):c.1477G>A (p.Gly493Ser) rs778515113 0.00001
NM_001252102.2(KIF21B):c.865C>T (p.Arg289Trp) rs1459259252 0.00001
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln) rs1429234959 0.00001
NM_001303052.2(MYT1L):c.634G>A (p.Ala212Thr) rs1277588922 0.00001
NM_001330260.2(SCN8A):c.5015A>G (p.Asn1672Ser) rs1592174367 0.00001
NM_001347721.2(DYRK1A):c.1909A>G (p.Met637Val) rs1353409115 0.00001
NM_001349798.2(FBXW7):c.832C>T (p.Arg278Ter) rs2126583593 0.00001
NM_001352913.2(PPP2R5C):c.556T>C (p.Trp186Arg) rs367794601 0.00001
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys) rs367757240 0.00001
NM_001363540.2(DOCK4):c.4040G>A (p.Arg1347Gln) rs371464726 0.00001
NM_001366145.2(TRPM3):c.3223+1G>A rs760339927 0.00001
NM_001366145.2(TRPM3):c.3245C>A (p.Thr1082Asn) rs1319189898 0.00001
NM_001366521.1(ATP2B1):c.2353G>A (p.Val785Ile) rs1877696565 0.00001
NM_001366521.1(ATP2B1):c.2365C>T (p.Arg789Cys) rs1161061134 0.00001
NM_001367479.1(DNAH14):c.12946_12947del (p.Lys4316fs) rs1490181827 0.00001
NM_001367479.1(DNAH14):c.6166C>T (p.Arg2056Ter) rs1394394477 0.00001
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 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_001394372.1(BICRA):c.3799T>A (p.Ser1267Thr) rs769799808 0.00001
NM_002524.5(NRAS):c.490C>T (p.Arg164Cys) rs1658971260 0.00001
NM_002830.4(PTPN4):c.149del (p.Gln50fs) rs1677776275 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_003545.4(H4C5):c.52C>T (p.Arg18Cys) rs776145717 0.00001
NM_003922.4(HERC1):c.2572C>T (p.Arg858Ter) rs764310338 0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) rs766478634 0.00001
NM_006421.5(ARFGEF1):c.1203+1G>T rs1805354051 0.00001
NM_006950.3(SYN1):c.1520G>T (p.Arg507Leu) rs2057770933 0.00001
NM_007187.5(WBP4):c.440-1G>A rs1355288041 0.00001
NM_013427.3(ARHGAP6):c.1765G>A (p.Ala589Thr) rs769596416 0.00001
NM_013450.4(BAZ2B):c.5599G>A (p.Asp1867Asn) rs1166745502 0.00001
NM_013450.4(BAZ2B):c.628C>T (p.Arg210Ter) rs780189423 0.00001
NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val) rs1166797338 0.00001
NM_015100.4(POGZ):c.2111C>G (p.Ser704Cys) rs1654079494 0.00001
NM_015355.4(SUZ12):c.1874+8A>G rs1910003061 0.00001
NM_015378.4(VPS13D):c.5723T>C (p.Ile1908Thr) rs376670648 0.00001
NM_015557.3(CHD5):c.5305A>G (p.Asn1769Asp) rs754161216 0.00001
NM_015909.4(NBAS):c.2290C>T (p.Pro764Ser) rs200532922 0.00001
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter) rs1774516234 0.00001
NM_016390.4(SPOUT1):c.1058C>T (p.Thr353Met) rs1018452459 0.00001
NM_016390.4(SPOUT1):c.877G>A (p.Gly293Ser) rs771013793 0.00001
NM_017514.5(PLXNA3):c.2002C>G (p.His668Asp) rs782528486 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_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_020706.2(SCAF4):c.415A>G (p.Ser139Gly) rs1474995125 0.00001
NM_020791.4(TAOK1):c.1960C>T (p.Arg654Ter) rs2031934299 0.00001
NM_020791.4(TAOK1):c.2494C>T (p.Arg832Cys) rs372056956 0.00001
NM_020822.3(KCNT1):c.2881C>T (p.Arg961Cys) rs1178947201 0.00001
NM_020944.3(GBA2):c.2330A>C (p.His777Pro) rs1008414642 0.00001
NM_020944.3(GBA2):c.2617C>T (p.Arg873Cys) rs757252849 0.00001
NM_022552.5(DNMT3A):c.917G>A (p.Trp306Ter) rs1465829182 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_032242.4(PLXNA1):c.1357C>T (p.Arg453Ter) rs371434286 0.00001
NM_032242.4(PLXNA1):c.1549C>T (p.Gln517Ter) rs1204647586 0.00001
NM_032242.4(PLXNA1):c.2702G>A (p.Arg901His) rs774624923 0.00001
NM_032242.4(PLXNA1):c.4483C>T (p.Arg1495Trp) rs2079185551 0.00001
NM_032737.4(LMNB2):c.119G>T (p.Arg40Leu) rs749545201 0.00001
NM_133443.4(GPT2):c.844A>G (p.Ile282Val) rs377334484 0.00001
NM_138690.3(GRIN3B):c.1811C>T (p.Thr604Met) rs765385702 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_199334.5(THRA):c.814G>A (p.Asp272Asn) rs2145085076 0.00001
GRCh37/hg19 2q24.2(chr2:160124451-160219840)x1
GRCh37/hg19 2q24.2(chr2:160124451-160511552)x1
GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)x1
GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1
GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1
GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3
NC_000002.11:g.39053852_42501893dup
NC_000005.9:g.53180658_54552379dup
NC_000007.13:g.30439214_30632407dup
NC_000009.11:g.6558199_6619973dup
NC_000013.11:g.41074134_41090164del
NC_000015.10:g.22723843_23122692dup
NC_000018.10:g.37119652_37256580del
NC_000018.9:g.67742689_67765169dup
NC_000019.9:g.1406030_3597207dup
NC_000020.10:g.157772_706326dup
NM_000048.4(ASL):c.1045_1057del (p.Val349fs) rs796051933
NM_000048.4(ASL):c.374T>C (p.Met125Thr) rs2484998132
NM_000048.4(ASL):c.502C>A (p.Arg168Ser) rs766832061
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) rs1571158279
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_000548.5(TSC2):c.924del (p.Leu309fs) rs2151108081
NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs) rs2154577568
NM_000722.4(CACNA2D1):c.1401C>A (p.Phe467Leu) rs1799276414
NM_000834.5(GRIN2B):c.1079C>T (p.Pro360Leu) rs2497684685
NM_000834.5(GRIN2B):c.1568T>C (p.Val523Ala) rs2136479447
NM_000875.5(IGF1R):c.2128_2139del (p.Gln710_Lys713del) rs2506023488
NM_000875.5(IGF1R):c.3137_3138del (p.Glu1046fs) rs2506059210
NM_000875.5(IGF1R):c.77G>A (p.Trp26Ter) rs2141155238
NM_000915.4(OXT):c.-3_9dup (p.Gly3_Pro4insThrMetAlaGly) rs1840123531
NM_000937.5(POLR2A):c.2732C>T (p.Pro911Leu) rs2150883515
NM_000937.5(POLR2A):c.3281C>T (p.Ser1094Phe) rs775858617
NM_000937.5(POLR2A):c.381G>C (p.Lys127Asn) rs2150879653
NM_001001331.4(ATP2B2):c.673G>A (p.Asp225Asn) rs2062203038
NM_001001344.3(ATP2B3):c.3485C>T (p.Thr1162Met) rs2090904365
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_001003694.2(BRPF1):c.362_363del (p.Glu121fs) rs1057519511
NM_001005273.3(CHD3):c.1867C>T (p.Arg623Cys) rs923486409
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His) rs2111857835
NM_001007527.2(LMBRD2):c.1460C>T (p.Pro487Leu) rs2111857806
NM_001007527.2(LMBRD2):c.1792G>C (p.Glu598Gln) rs1581040967
NM_001008537.3(NEXMIF):c.1771A>T (p.Lys591Ter) rs2519914975
NM_001009880.2(KIAA0930):c.965C>T (p.Ser322Leu) rs2147734951
NM_001009880.2(KIAA0930):c.971C>T (p.Ser324Leu) rs2147734941
NM_001009880.2(KIAA0930):c.973G>A (p.Ala325Thr) rs2147734937
NM_001012426.2(FOXP4):c.1615G>C (p.Asp539His)
NM_001012426.2(FOXP4):c.415dup (p.Leu139fs)
NM_001020658.2(PUM1):c.3267_3270del (p.His1090fs) rs2124378402
NM_001032221.6(STXBP1):c.795-1G>A rs1554777708
NM_001034173.4(ALDH1L2):c.398C>A (p.Pro133His) rs2502301063
NM_001039591.3(USP9X):c.208_209del (p.His69_Thr70insTer) rs2147006012
NM_001040142.2(SCN2A):c.304C>G (p.Arg102Gly) rs387906683
NM_001042424.3(NSD2):c.2155G>A (p.Val719Met) rs200415868
NM_001042475.3(CEP85L):c.232+1G>T rs1774227158
NM_001042681.2(RERE):c.3732del (p.Tyr1245fs) rs1641418583
NM_001042750.2(STAG2):c.943T>C (p.Trp315Arg) rs2521414161
NM_001069.3(TUBB2A):c.403C>G (p.Leu135Val) rs2113785610
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs) rs1555349214
NM_001080421.3(UNC13A):c.2008G>C (p.Gly670Arg)
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu) rs2076985517
NM_001080421.3(UNC13A):c.2786G>A (p.Gly929Glu) rs2076957024
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.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_001099270.4(ZBTB34):c.490_491del (p.Pro164fs) rs2538735404
NM_001101.5(ACTB):c.1078_1079dup (p.Gln360fs) rs2533845848
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) rs2533849974
NM_001101.5(ACTB):c.655G>A (p.Val219Ile)
NM_001110556.2(FLNA):c.7058T>C (p.Phe2353Ser) rs2148102210
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
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.2990T>G (p.Val997Gly) rs2147049357
NM_001115016.3(KANSL3):c.1409G>T (p.Gly470Val) rs2068443939
NM_001116.4(ADCY9):c.3098G>C (p.Arg1033Thr) rs2056001007
NM_001127222.2(CACNA1A):c.6780+1G>A rs2512515042
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_001130053.5(EEF1D):c.1114del (p.Phe371_Leu372insTer) rs1333517857
NM_001130438.3(SPTAN1):c.5468_5471del (p.Pro1823fs) rs2541941372
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
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.984_1015del (p.Lys328fs) rs2100485780
NM_001135998.3(NDUFB11):c.145_152dup (p.Thr52fs) rs2147053098
NM_001142551.2(WDR47):c.578G>A (p.Arg193His)
NM_001145073.3(USP27X):c.106C>T (p.Gln36Ter) rs2147224405
NM_001145358.2(SIN3A):c.1076dup (p.Tyr359Ter) rs2141487276
NM_001148.6(ANK2):c.10313_10316del (p.Leu3438fs)
NM_001148.6(ANK2):c.3913C>T (p.Arg1305Ter)
NM_001148.6(ANK2):c.5635_5638del (p.Ser1879fs)
NM_001148.6(ANK2):c.5963T>C (p.Met1988Thr) rs2154021231
NM_001148.6(ANK2):c.6245dup (p.Gly2083fs)
NM_001148.6(ANK2):c.9539_9545delinsTGGATGATGAG (p.Asp3180fs)
NM_001162491.2(ARL13A):c.349G>C (p.Asp117His) rs373334251
NM_001162501.2(TNRC6B):c.917G>A (p.Ser306Asn) rs752331221
NM_001163435.3(TBCK):c.658+1G>A rs1579395680
NM_001165963.4(SCN1A):c.3977C>A (p.Ala1326Asp) rs2105569724
NM_001170629.2(CHD8):c.2364+1G>C rs2139484699
NM_001170629.2(CHD8):c.2487-1G>C rs2139481823
NM_001170629.2(CHD8):c.3724C>T (p.Arg1242Ter) rs1555314788
NM_001170629.2(CHD8):c.5856_5863dup (p.Phe1955fs) rs2501857420
NM_001170629.2(CHD8):c.6853AAG[2] (p.Lys2287del) rs755776815
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs) rs751094013
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His) rs1247886882
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001174147.2(LMX1B):c.319_320dup (p.Gln108fs) rs2118823895
NM_001190274.2(FBXO11):c.1042-1G>C rs1572806589
NM_001190274.2(FBXO11):c.1260+1G>C rs1672276134
NM_001190274.2(FBXO11):c.1276A>T (p.Asn426Tyr) rs2104808169
NM_001190274.2(FBXO11):c.1459T>C (p.Tyr487His) rs2531101467
NM_001190274.2(FBXO11):c.1612A>G (p.Ile538Val) rs1553338592
NM_001190274.2(FBXO11):c.1825_1829del (p.Glu608_Glu609insTer) rs1671197579
NM_001190274.2(FBXO11):c.1868C>G (p.Thr623Arg) rs1671196392
NM_001190274.2(FBXO11):c.2084-1G>A rs1670754178
NM_001190274.2(FBXO11):c.2084-6_2085dup rs1670753929
NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro) rs1553335247
NM_001190274.2(FBXO11):c.2675C>A (p.Ala892Asp) rs1670358755
NM_001190274.2(FBXO11):c.2700_2703dup (p.Ala902fs) rs1670356870
NM_001190274.2(FBXO11):c.2709dup (p.Glu904Ter) rs1553334874
NM_001190274.2(FBXO11):c.2714C>G (p.Pro905Arg) rs1670356255
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer) rs1553334863
NM_001190274.2(FBXO11):c.319_320del (p.Leu107fs) rs1672866585
NM_001190274.2(FBXO11):c.414A>T (p.Arg138Ser) rs1553342109
NM_001190274.2(FBXO11):c.467A>G (p.Gln156Arg) rs1672806975
NM_001190274.2(FBXO11):c.506_507del (p.Ser169fs) rs1672803381
NM_001190737.2(NFIB):c.30+1G>A rs2539031037
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.4696G>A (p.Gly1566Arg) rs2134335014
NM_001197104.2(KMT2A):c.9449del (p.Pro3150fs) rs2497019130
NM_001197104.2(KMT2A):c.9847C>T (p.Arg3283Ter) rs2134408087
NM_001204077.2(UBE4A):c.1214_1215del (p.Asn405fs) rs2496959742
NM_001220.5(CAMK2B):c.611T>C (p.Leu204Pro) rs2128968013
NM_001252102.2(KIF21B):c.1061T>C (p.Phe354Ser) rs2465222033
NM_001252102.2(KIF21B):c.4625A>G (p.Asn1542Ser) rs893498810
NM_001252102.2(KIF21B):c.4670_4671insT (p.Met1559fs) rs2465113887
NM_001256012.3(MYH10):c.5794C>T (p.Arg1932Cys)
NM_001256627.2(BRSK2):c.1668G>A (p.Ser556=) rs2539740546
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.3058C>T (p.Gln1020Ter) rs2141847168
NM_001281775.3(ZMYND8):c.1960_1964del (p.Lys654fs) rs776813452
NM_001281775.3(ZMYND8):c.2447G>A (p.Gly816Glu)
NM_001282116.2(RFX3):c.1708dup (p.Ala570fs) rs2131116061
NM_001282116.2(RFX3):c.628C>T (p.Arg210Ter)
NM_001282116.2(RFX3):c.763C>T (p.Arg255Cys) rs2131583484
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282857.2(XRN1):c.624C>A (p.Asp208Glu) rs2472867497
NM_001287491.2(TET3):c.3136_3138del (p.Asn1046del)
NM_001287491.2(TET3):c.3818A>G (p.Asn1273Ser)
NM_001287491.2(TET3):c.5342C>A (p.Ser1781Tyr) rs2104237905
NM_001290060.2(SEMA3B):c.450G>C (p.Glu150Asp) rs1701032174
NM_001291415.2(KDM6A):c.1486-2A>G rs2522808002
NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter) rs755440519
NM_001297595.2(SIN3B):c.803A>C (p.Lys268Thr)
NM_001303052.2(MYT1L):c.1807del (p.Arg603fs) rs2149016192
NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter) rs745333246
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) rs1602510200
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001318852.2(MAPK8IP3):c.3226A>G (p.Met1076Val) rs2548114208
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_001321571.2(CAMK2D):c.236G>A (p.Ser79Asn) rs2515933527
NM_001321571.2(CAMK2D):c.275+1G>T rs2098989283
NM_001321571.2(CAMK2D):c.416C>T (p.Pro139Leu) rs2512545072
NM_001321571.2(CAMK2D):c.821A>C (p.Gln274Pro) rs2511651497
NM_001321571.2(CAMK2D):c.824G>A (p.Arg275His) rs2511651126
NM_001321571.2(CAMK2D):c.873G>C (p.Leu291Phe) rs2511649293
NM_001321571.2(CAMK2D):c.881T>C (p.Phe294Ser) rs2511649109
NM_001323532.2(PARP6):c.1174A>G (p.Ile392Val)
NM_001326342.2(CELF2):c.221A>G (p.Tyr74Cys) rs2546601834
NM_001330260.2(SCN8A):c.2683C>G (p.Gln895Glu) rs2540260370
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) rs2540172722
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) rs1266305512
NM_001332.4(CTNND2):c.2653C>T (p.Arg885Ter) rs886041494
NM_001347721.2(DYRK1A):c.263C>G (p.Ser88Cys) rs2517974756
NM_001348323.3(TRIP12):c.2118_2119insT (p.Thr707fs) rs2154278573
NM_001348323.3(TRIP12):c.3624+1G>A rs2471540906
NM_001348323.3(TRIP12):c.4909A>G (p.Met1637Val) rs2040410947
NM_001348323.3(TRIP12):c.6129T>G (p.Tyr2043Ter) rs2469686143
NM_001348800.3(ZBTB20):c.1775A>G (p.Asn592Ser) rs1240860015
NM_001348800.3(ZBTB20):c.1845C>A (p.Phe615Leu) rs2550439042
NM_001348800.3(ZBTB20):c.1862T>G (p.Leu621Arg) rs1576220750
NM_001349338.3(FOXP1):c.1000dup (p.Asp334fs) rs2107613139
NM_001349798.2(FBXW7):c.1877C>T (p.Ala626Val) rs2126466009
NM_001349798.2(FBXW7):c.1939A>T (p.Lys647Ter) rs2126464225
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) rs777278685
NM_001353345.2(SETD1B):c.5443G>A (p.Asp1815Asn) rs2137589126
NM_001353345.2(SETD1B):c.5824_5829del (p.Asp1942_Tyr1943del) rs1877025777
NM_001356.5(DDX3X):c.1282C>T (p.Arg428Trp) rs2147356782
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.830_831del (p.Glu277fs) rs1602131859
NM_001363066.2(CLDN5):c.121G>A (p.Val41Met)
NM_001363540.2(DOCK4):c.2770C>T (p.Arg924Ter) rs1803094081
NM_001363540.2(DOCK4):c.2945C>T (p.Thr982Ile) rs2536798545
NM_001363540.2(DOCK4):c.3125T>C (p.Val1042Ala) rs2536768589
NM_001363540.2(DOCK4):c.3131T>C (p.Met1044Thr) rs2536768544
NM_001363540.2(DOCK4):c.3200T>C (p.Ile1067Thr) rs1799458667
NM_001363540.2(DOCK4):c.3937del (p.Asp1313fs) rs2536444575
NM_001363540.2(DOCK4):c.5913G>T (p.Lys1971Asn) rs1243762203
NM_001363540.2(DOCK4):c.892C>T (p.Arg298Ter) rs1413830150
NM_001365902.3(NFIX):c.1254+2T>A rs1599862464
NM_001366145.2(TRPM3):c.4493G>C (p.Trp1498Ser) rs2041829797
NM_001366521.1(ATP2B1):c.1274C>A (p.Thr425Lys) rs2136106360
NM_001366521.1(ATP2B1):c.1376A>G (p.His459Arg) rs1879993052
NM_001366521.1(ATP2B1):c.1789C>T (p.Arg597Ter) rs1879711772
NM_001366521.1(ATP2B1):c.2386G>A (p.Gly796Ser) rs2540874640
NM_001366521.1(ATP2B1):c.2470G>A (p.Glu824Lys) rs2135949570
NM_001366521.1(ATP2B1):c.2632C>T (p.Gln878Ter) rs1033577592
NM_001366521.1(ATP2B1):c.2972G>A (p.Arg991Gln) rs1433458409
NM_001366521.1(ATP2B1):c.3110C>G (p.Ser1037Ter) rs2540763693
NM_001366521.1(ATP2B1):c.458G>A (p.Trp153Ter) rs2136193860
NM_001366521.1(ATP2B1):c.658del (p.Tyr220fs)
NM_001366521.1(ATP2B1):c.716A>G (p.Asp239Gly) rs2136192267
NM_001366521.1(ATP2B1):c.791C>T (p.Thr264Ile) rs2136158725
NM_001367479.1(DNAH14):c.11857G>A (p.Gly3953Ser) rs1176041827
NM_001367479.1(DNAH14):c.3697C>T (p.Gln1233Ter) rs768225657
NM_001367479.1(DNAH14):c.7633C>A (p.Pro2545Thr) rs761527556
NM_001367534.1(CAMK2G):c.715G>A (p.Asp239Asn) rs2548515709
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) rs2520195542
NM_001367873.1(SOX6):c.1893G>C (p.Trp631Cys) rs2119819668
NM_001367873.1(SOX6):c.2074C>T (p.Pro692Ser) rs2119818229
NM_001367873.1(SOX6):c.293C>G (p.Ser98Ter) rs2134302287
NM_001368397.1(FRMPD4):c.2317C>G (p.Leu773Val) rs2519851399
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001370100.5(ZMYND11):c.220A>G (p.Lys74Glu) rs2131269173
NM_001370348.2(PHF3):c.3610C>T (p.Arg1204Ter) rs2149606956
NM_001371928.1(AHDC1):c.2432C>A (p.Ser811Ter) rs2019410275
NM_001372044.2(SHANK3):c.3904dup (p.Ala1302fs) rs762292772
NM_001374828.1(ARID1B):c.1548del (p.Ser515_Tyr516insTer) rs2114999450
NM_001374828.1(ARID1B):c.3700G>A (p.Gly1234Arg) rs2128317800
NM_001375380.1(EBF3):c.135-2A>G rs2493682084
NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter) rs1057519522
NM_001375524.1(TRRAP):c.11491G>A (p.Ala3831Thr) rs112253894
NM_001375524.1(TRRAP):c.3316G>A (p.Glu1106Lys) rs1584324956
NM_001375765.1(GIGYF1):c.1939G>T (p.Asp647Tyr) rs568336617
NM_001375765.1(GIGYF1):c.2498dup (p.Gly834fs) rs776212530
NM_001375765.1(GIGYF1):c.2801C>T (p.Pro934Leu) rs2131367497
NM_001376.5(DYNC1H1):c.2678A>G (p.Tyr893Cys) rs2141275840
NM_001377534.1(DYNLT4):c.631G>C (p.Ala211Pro) rs1298092277
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378615.1(CC2D2A):c.2671G>A (p.Glu891Lys) rs863225178
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_001382637.1(OTUD7A):c.893+1del rs1428047310
NM_001384528.1(GATAD2A):c.1073A>C (p.Lys358Thr) rs2513697772
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) rs2513604621
NM_001393769.1(MED12L):c.2968T>C (p.Ser990Pro) rs1416139284
NM_001393769.1(MED12L):c.4373C>T (p.Thr1458Ile) rs772844769
NM_001394998.1(TANC2):c.1441+1G>A rs2045256930
NM_001394998.1(TANC2):c.3003del (p.Ala1002fs) rs2047893330
NM_001394998.1(TANC2):c.4268+2T>G rs2048929422
NM_001394998.1(TANC2):c.4657del (p.Arg1553fs) rs2048988947
NM_001394998.1(TANC2):c.4699C>T (p.Gln1567Ter) rs764041869
NM_001394998.1(TANC2):c.4965_4968del (p.Gln1656fs) rs2048999762
NM_001395159.1(UNC79):c.7242+1G>A
NM_001429.4(EP300):c.3302C>T (p.Thr1101Ile) rs2145747224
NM_001429.4(EP300):c.3976G>A (p.Val1326Ile) rs1268191227
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
NM_001794.5(CDH4):c.1835C>T (p.Ala612Val) rs951281332
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile) rs1732900321
NM_001830.4(CLCN4):c.1517C>G (p.Pro506Arg) rs2147182703
NM_001830.4(CLCN4):c.1906G>A (p.Val636Met) rs771033388
NM_001854.4(COL11A1):c.4554+1G>C rs886044244
NM_001904.4(CTNNB1):c.1189G>A (p.Gly397Arg) rs2125638599
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001958.5(EEF1A2):c.164A>G (p.Lys55Arg) rs2145945553
NM_001967.4(EIF4A2):c.1032G>C (p.Leu344Phe) rs2473976527
NM_001967.4(EIF4A2):c.106GAT[1] (p.Asp37del) rs1171371205
NM_001967.4(EIF4A2):c.131_132del (p.Leu44fs) rs2473961744
NM_001967.4(EIF4A2):c.481G>T (p.Gly161Trp) rs2473968343
NM_001967.4(EIF4A2):c.5C>G (p.Ser2Cys) rs764605841
NM_001967.4(EIF4A2):c.641C>A (p.Ser214Tyr) rs2108458548
NM_001967.4(EIF4A2):c.646A>G (p.Thr216Ala) rs2473970931
NM_001967.4(EIF4A2):c.647C>T (p.Thr216Ile) rs2473970934
NM_001967.4(EIF4A2):c.945_947del (p.Ile315del) rs2473975415
NM_001967.4(EIF4A2):c.[1161_1166del;186_187del]
NM_001970.5(EIF5A):c.77G>C (p.Arg26Pro) rs2143008740
NM_002069.6(GNAI1):c.143C>A (p.Thr48Lys) rs1788434338
NM_002069.6(GNAI1):c.238T>G (p.Ser80Ala) rs2115632680
NM_002069.6(GNAI1):c.869A>T (p.Tyr290Phe) rs2115713066
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002107.7(H3-3A):c.250C>G (p.Arg84Gly) rs1657904113
NM_002128.7(HMGB1):c.342del (p.Gly115fs)
NM_002128.7(HMGB1):c.466G>T (p.Glu156Ter)
NM_002180.3(IGHMBP2):c.1391A>G (p.His464Arg) rs2154008611
NM_002232.5(KCNA3):c.1328C>T (p.Thr443Ile) rs2524761374
NM_002373.6(MAP1A):c.5484_5485del (p.Met1829fs) rs2140209334
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter) rs1554150552
NM_002529.4(NTRK1):c.303T>A (p.Ser101Arg) rs2102886126
NM_002576.5(PAK1):c.259G>T (p.Val87Phe) rs1949601904
NM_002730.4(PRKACA):c.61G>C (p.Ala21Pro) rs1977645307
NM_002804.5(PSMC3):c.464A>G (p.Lys155Arg)
NM_002804.5(PSMC3):c.777G>A (p.Met259Ile)
NM_002805.6(PSMC5):c.238A>G (p.Met80Val)
NM_002816.5(PSMD12):c.168+5G>A rs2143724794
NM_002830.4(PTPN4):c.2338C>T (p.Gln780Ter) rs2105059931
NM_002830.4(PTPN4):c.722T>C (p.Ile241Thr) rs2467016183
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_003010.4(MAP2K4):c.947A>T (p.Gln316Leu) rs2508394673
NM_003024.3(ITSN1):c.1540A>G (p.Asn514Asp)
NM_003024.3(ITSN1):c.1658A>G (p.Lys553Arg)
NM_003024.3(ITSN1):c.184T>C (p.Trp62Arg)
NM_003024.3(ITSN1):c.2772G>A (p.Trp924Ter) rs2518087570
NM_003024.3(ITSN1):c.463G>T (p.Val155Leu)
NM_003031.4(SIAH1):c.149C>T (p.Pro50Leu) rs2151044134
NM_003036.4(SKI):c.1026del (p.Gln342fs) rs2100916221
NM_003036.4(SKI):c.1138C>T (p.Arg380Ter) rs1640474693
NM_003036.4(SKI):c.832dup (p.Ser278fs)
NM_003042.4(SLC6A1):c.559A>G (p.Ser187Gly) rs2470203819
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.3G>A (p.Met1Ile) rs2145720045
NM_003073.5(SMARCB1):c.968AGA[1] (p.Lys324del) rs2146027176
NM_003076.5(SMARCD1):c.521G>A (p.Arg174His) rs2539487778
NM_003107.3(SOX4):c.130G>T (p.Gly44Cys) rs753093855
NM_003128.3(SPTBN1):c.1922G>A (p.Trp641Ter) rs2549525393
NM_003128.3(SPTBN1):c.2887G>A (p.Glu963Lys) rs2103937586
NM_003128.3(SPTBN1):c.4718dup (p.Trp1574fs) rs2104068395
NM_003128.3(SPTBN1):c.811G>A (p.Val271Met) rs2103866400
NM_003185.4(TAF4):c.1348C>T (p.Gln450Ter) rs753587914
NM_003185.4(TAF4):c.1699G>C (p.Val567Leu)
NM_003185.4(TAF4):c.2801A>T (p.Tyr934Phe)
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.16529A>G (p.Tyr5510Cys) rs1383821738
NM_003491.4(NAA10):c.478C>T (p.Arg160Trp) rs1569546258
NM_003491.4(NAA10):c.47A>C (p.His16Pro) rs2065185202
NM_003540.4(H4C6):c.96G>C (p.Lys32Asn) rs117670320
NM_003590.5(CUL3):c.562C>T (p.Gln188Ter) rs2106221030
NM_003601.4(SMARCA5):c.1310C>T (p.Ser437Leu)
NM_003601.4(SMARCA5):c.2283+1G>A
NM_003709.4(KLF7):c.410C>T (p.Thr137Met) rs1276619385
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003718.5(CDK13):c.2317G>C (p.Asp773His) rs2483783437
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_004114.5(FGF13):c.32G>A (p.Arg11His) rs2090039732
NM_004147.4(DRG1):c.43-1G>T rs2049955711
NM_004187.5(KDM5C):c.2517-7_2517-6insTAG rs2146844967
NM_004229.4(MED14):c.4036G>A (p.Ala1346Thr) rs2146606969
NM_004247.4(EFTUD2):c.1414-2A>G rs1597797917
NM_004289.7(NFE2L3):c.433G>T (p.Gly145Cys) rs963731881
NM_004289.7(NFE2L3):c.79del (p.Arg27fs) rs2535583651
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_004398.4(DDX10):c.1609G>A (p.Ala537Thr) rs779168659
NM_004456.5(EZH2):c.457T>C (p.Tyr153His) rs2129476917
NM_004491.5(ARHGAP35):c.1600C>T (p.Gln534Ter) rs2056190516
NM_004491.5(ARHGAP35):c.2814dup (p.Lys939Ter) rs2514161964
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004523.4(KIF11):c.758_767dup (p.Lys257fs) rs2135904903
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) rs2051507892
NM_004630.4(SF1):c.221del (p.Pro74fs) rs1430022410
NM_004640.7(DDX39B):c.109G>T (p.Gly37Cys) rs2481452992
NM_004640.7(DDX39B):c.132C>G (p.Ser44Arg) rs763394152
NM_004640.7(DDX39B):c.275G>A (p.Gly92Asp) rs2481439394
NM_004640.7(DDX39B):c.368G>A (p.Arg123Gln) rs2481434228
NM_004640.7(DDX39B):c.433-1G>T rs2481412217
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_004758.4(TSPOAP1):c.1942G>T (p.Gly648Cys) rs2143077017
NM_004818.3(DDX23):c.1912C>T (p.Arg638Cys) rs2137480864
NM_004818.3(DDX23):c.480+2T>C rs2498758666
NM_004859.4(CLTC):c.3367_3368del (p.Glu1123fs) rs2143592425
NM_004958.4(MTOR):c.1165C>T (p.Gln389Ter)
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_004973.4(JARID2):c.2731+5G>A rs2127756209
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.894_895delinsTT (p.Leu298_Val299delinsPheLeu) rs2101398625
NM_005035.4(POLRMT):c.2424del (p.Cys809fs)
NM_005045.4(RELN):c.5467G>A (p.Ala1823Thr)
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_005253.4(FOSL2):c.810_811del (p.Pro271fs) rs2148100720
NM_005308.3(GRK5):c.30_31delinsCT (p.Val11Phe) rs1848415086
NM_005321.3(H1-4):c.464dup (p.Lys157fs) rs1581429554
NM_005324.5(H3-3B):c.103G>A (p.Gly35Arg) rs2143631260
NM_005392.4(PHF2):c.1475dup (p.Thr493fs) rs769717544
NM_005393.3(PLXNB3):c.4274C>A (p.Thr1425Asn) rs2091974044
NM_005412.6(SHMT2):c.1135A>G (p.Asn379Asp) rs2037432429
NM_005412.6(SHMT2):c.557C>G (p.Thr186Arg) rs769908186
NM_005427.4(TP73):c.901G>A (p.Asp301Asn) rs986713005
NM_005445.4(SMC3):c.631G>T (p.Ala211Ser) rs2493113288
NM_005629.4(SLC6A8):c.1252C>A (p.Gln418Lys) rs2148363775
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.964_965insCT (p.Tyr322fs) rs2107821339
NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter) rs1580026238
NM_005915.6(MCM6):c.605A>G (p.Asp202Gly) rs2467301834
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006015.6(ARID1A):c.2149G>A (p.Ala717Thr) rs2124057017
NM_006035.4(CDC42BPB):c.3615G>A (p.Trp1205Ter) rs1346688931
NM_006035.4(CDC42BPB):c.4471A>G (p.Thr1491Ala) rs1260441132
NM_006035.4(CDC42BPB):c.4475T>C (p.Met1492Thr) rs2542738579
NM_006052.2(VPS26C):c.178G>T (p.Glu60Ter) rs2086074876
NM_006078.5(CACNG2):c.436+1G>A rs2145905176
NM_006086.4(TUBB3):c.1188C>G (p.His396Gln) rs2544628188
NM_006186.4(NR4A2):c.325dup (p.Gln109fs) rs774629025
NM_006196.4(PCBP1):c.137G>A (p.Arg46Gln) rs2104759178
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006314.3(CNKSR1):c.503G>T (p.Gly168Val) rs2523105744
NM_006421.5(ARFGEF1):c.5194C>T (p.Arg1732Cys) rs1563832518
NM_006445.4(PRPF8):c.4338+2T>C rs2543734023
NM_006445.4(PRPF8):c.6065A>G (p.Gln2022Arg)
NM_006493.4:c.679C>T
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
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_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006593.4(TBR1):c.381del (p.Gly128fs) rs2105278359
NM_006618.5(KDM5B):c.1514G>A (p.Ser505Asn)
NM_006618.5(KDM5B):c.1997_2001del (p.Arg666fs)
NM_006618.5(KDM5B):c.280G>A (p.Glu94Lys)
NM_006618.5(KDM5B):c.3610G>A (p.Val1204Met)
NM_006662.3(SRCAP):c.1143_1153delinsTGT (p.Pro382fs) rs2151287951
NM_006662.3(SRCAP):c.1174C>T (p.Gln392Ter) rs1555463754
NM_006662.3(SRCAP):c.148del (p.His50fs) rs2052800289
NM_006662.3(SRCAP):c.1608_1611delinsCA (p.Gln537fs) rs2151288511
NM_006662.3(SRCAP):c.1793del (p.Gly598fs) rs2151288590
NM_006662.3(SRCAP):c.2518C>T (p.Arg840Ter) rs1232266542
NM_006662.3(SRCAP):c.3833C>A (p.Ser1278Ter) rs755307689
NM_006662.3(SRCAP):c.3893-2A>G rs2151293617
NM_006662.3(SRCAP):c.4200_4204del (p.Leu1401fs) rs2151293907
NM_006662.3(SRCAP):c.435del (p.Gln145fs) rs2151286256
NM_006662.3(SRCAP):c.4557_4560del (p.Gln1519fs) rs1567248015
NM_006662.3(SRCAP):c.4648del (p.Val1550fs) rs2151294192
NM_006662.3(SRCAP):c.4925T>A (p.Leu1642Ter) rs2151294378
NM_006662.3(SRCAP):c.5102_5103del (p.Ser1701fs) rs2151294456
NM_006662.3(SRCAP):c.5387del (p.Pro1796fs) rs2151294574
NM_006662.3(SRCAP):c.5461delinsAGA (p.Ser1821fs) rs1555464955
NM_006662.3(SRCAP):c.55-1G>A rs2151284583
NM_006662.3(SRCAP):c.5527del (p.Val1843fs) rs2151294647
NM_006662.3(SRCAP):c.5549_5556del (p.Thr1850fs) rs2151294652
NM_006662.3(SRCAP):c.5633dup (p.Pro1879fs) rs748467821
NM_006662.3(SRCAP):c.5977_5980del (p.Cys1993fs) rs2151296560
NM_006662.3(SRCAP):c.5984del (p.Pro1995fs) rs2151296564
NM_006662.3(SRCAP):c.6208C>T (p.Arg2070Ter) rs2151298248
NM_006662.3(SRCAP):c.6889del (p.Arg2297fs) rs2151299623
NM_006662.3(SRCAP):c.6901del (p.Glu2301fs) rs2151299633
NM_006662.3(SRCAP):c.833del (p.Pro278fs) rs886041787
NM_006662.3(SRCAP):c.8592dup (p.Lys2865fs) rs2053186315
NM_006662.3(SRCAP):c.9126dup (p.Gln3043fs) rs2151301216
NM_006662.3(SRCAP):c.9338_9341del (p.Leu3113fs) rs2053199279
NM_006662.3(SRCAP):c.9344del (p.Pro3115fs) rs2151301366
NM_006662.3(SRCAP):c.9364del (p.Leu3122fs) rs2151301385
NM_006734.4(HIVEP2):c.6698G>A (p.Gly2233Glu) rs1774991184
NM_006766.5(KAT6A):c.1506del (p.Asp503fs) rs2150871384
NM_006766.5(KAT6A):c.5701del (p.Val1901fs) rs2150854704
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006772.3(SYNGAP1):c.936dup (p.Glu313fs) rs2151168879
NM_006852.6(TLK2):c.717_718del (p.Arg240fs) rs2146228345
NM_006852.6(TLK2):c.887T>C (p.Leu296Pro) rs2079641759
NM_006852.6(TLK2):c.968+1G>C rs1598620094
NM_006885.4(ZFHX3):c.3355C>T (p.Arg1119Ter) rs2144074254
NM_006885.4(ZFHX3):c.5749G>T (p.Glu1917Ter) rs2507406125
NM_006885.4(ZFHX3):c.5767C>T (p.Pro1923Ser) rs2507405963
NM_006885.4(ZFHX3):c.6040C>T (p.Gln2014Ter) rs775876705
NM_006885.4(ZFHX3):c.6850C>T (p.Arg2284Ter) rs869312913
NM_006885.4(ZFHX3):c.8002C>T (p.Arg2668Ter) rs2143405085
NM_006885.4(ZFHX3):c.9643_9657del (p.Ala3215_Pro3219del) rs2507355398
NM_006922.4(SCN3A):c.5003T>C (p.Ile1668Thr) rs1685081916
NM_007118.4(TRIO):c.1369-1G>A rs2532222119
NM_007118.4(TRIO):c.5879A>C (p.Glu1960Ala) rs2126551592
NM_007129.5:c.264T>G
NM_007187.5(WBP4):c.499del (p.Thr167fs) rs2541856897
NM_007187.5(WBP4):c.668C>G (p.Ser223Ter) rs2541859093
NM_007187.5(WBP4):c.944del (p.Pro315fs) rs1427720732
NM_007192.4(SUPT16H):c.2515G>A (p.Glu839Lys) rs2139397532
NM_007192.4(SUPT16H):c.548T>C (p.Met183Thr) rs771105762
NM_007279.3(U2AF2):c.746T>A (p.Val249Asp) rs2123691990
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu) rs1569442989
NM_007327.4(GRIN1):c.2479G>A (p.Gly827Arg) rs1451230055
NM_012086.5(GTF3C3):c.1420C>T (p.Arg474Ter) rs1019988331
NM_012154.5(AGO2):c.2140C>T (p.Arg714Trp) rs866981753
NM_012199.5(AGO1):c.1217T>C (p.Val406Ala) rs2148715621
NM_012281.3(KCND2):c.1207C>G (p.Pro403Ala) rs1792826036
NM_012281.3(KCND2):c.566A>G (p.Tyr189Cys) rs2546907357
NM_012290.5(TLK1):c.1435C>G (p.Gln479Glu) rs1684682666
NM_012308.3(KDM2A):c.850C>T (p.His284Tyr)
NM_012309.5(SHANK2):c.601dup (p.Leu201fs) rs1555094999
NM_012330.4(KAT6B):c.3349_3350del (p.Gln1117fs) rs2549171488
NM_012330.4(KAT6B):c.5058C>A (p.Tyr1686Ter) rs1381894692
NM_012433.4(SF3B1):c.2107A>C (p.Thr703Pro) rs760147216
NM_013275.6(ANKRD11):c.3882_3885dup (p.Ser1296fs) rs1597454239
NM_013275.6(ANKRD11):c.5469del (p.Met1825fs) rs2544227866
NM_013275.6(ANKRD11):c.6288_6289insT (p.Pro2097fs) rs2544223064
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_013427.3(ARHGAP6):c.2287T>C (p.Ser763Pro)
NM_013436.5(NCKAP1):c.1085G>C (p.Gly362Ala) rs2468644197
NM_013436.5(NCKAP1):c.1488T>G (p.Tyr496Ter)
NM_013436.5(NCKAP1):c.2007G>T (p.Arg669Ser)
NM_013436.5(NCKAP1):c.2273A>G (p.Gln758Arg) rs2468587724
NM_013450.4(BAZ2B):c.2126G>A (p.Cys709Tyr) rs1576949430
NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter) rs767318278
NM_013450.4(BAZ2B):c.3471+2dup
NM_013450.4(BAZ2B):c.4213+1G>A rs2061024668
NM_013450.4(BAZ2B):c.5036A>T (p.Glu1679Val) rs1575883384
NM_013450.4(BAZ2B):c.6210-3T>C rs2063241999
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_014225.6(PPP2R1A):c.522C>G (p.Cys174Trp) rs2122334423
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) rs2520397819
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014515.7(CNOT2):c.1621dup (p.Ter541LeuextTer?) rs2136104001
NM_014633.5(CTR9):c.101T>C (p.Leu34Pro)
NM_014633.5(CTR9):c.797C>T (p.Pro266Leu)
NM_014681.6(DHX34):c.2327G>C (p.Arg776Pro) rs764483792
NM_014712.3(SETD1A):c.1256_1259dup (p.Thr421fs) rs2143491920
NM_014712.3(SETD1A):c.3243del (p.Arg1082fs) rs2143538061
NM_014712.3(SETD1A):c.916C>G (p.Gln306Glu) rs2056109588
NM_014717.3(ZNF536):c.1015G>T (p.Glu339Ter) rs774965623
NM_014795.4(ZEB2):c.1384_1385del (p.Lys462fs) rs2549106878
NM_014795.4(ZEB2):c.3088C>T (p.Gln1030Ter) rs903815010
NM_014795.4(ZEB2):c.3149C>G (p.Ser1050Trp) rs1226638635
NM_014847.4(UBAP2L):c.2761C>G (p.Pro921Ala)
NM_014847.4(UBAP2L):c.2870C>T (p.Pro957Leu) rs1034044389
NM_014921.5(ADGRL1):c.3427C>T (p.Arg1143Ter) rs2512729194
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) rs2540673729
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.10117G>T (p.Glu3373Ter)
NM_014991.6(WDFY3):c.2647C>T (p.Gln883Ter)
NM_014991.6(WDFY3):c.3403C>T (p.His1135Tyr) rs2533709504
NM_014991.6(WDFY3):c.3547C>T (p.Arg1183Ter) rs2533592177
NM_014991.6(WDFY3):c.3579G>A (p.Trp1193Ter) rs2533590867
NM_014991.6(WDFY3):c.4592+1G>A rs2533139095
NM_014991.6(WDFY3):c.7676A>G (p.Lys2559Arg) rs2149066183
NM_014991.6(WDFY3):c.9398C>G (p.Ala3133Gly)
NM_015015.3(KDM4B):c.1135C>T (p.Gln379Ter) rs2146018043
NM_015021.3(ZNF292):c.1160del (p.Arg387fs) rs1775120706
NM_015021.3(ZNF292):c.1360C>T (p.Arg454Ter) rs1215967523
NM_015021.3(ZNF292):c.1567C>T (p.Gln523Ter) rs1775143865
NM_015021.3(ZNF292):c.1858G>T (p.Glu620Ter) rs1775159559
NM_015021.3(ZNF292):c.1897C>T (p.Arg633Ter) rs1775161294
NM_015021.3(ZNF292):c.1910del (p.Lys637fs) rs1775161900
NM_015021.3(ZNF292):c.2170del (p.Cys724fs) rs1775179321
NM_015021.3(ZNF292):c.2490_2494dup (p.Ser832fs) rs1775194783
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter) rs865909396
NM_015021.3(ZNF292):c.2814_2821dup (p.Val941fs) rs1775218146
NM_015021.3(ZNF292):c.3053dup (p.Gln1019fs) rs1775236367
NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs) rs1135401779
NM_015021.3(ZNF292):c.3460_3463del (p.Val1154fs) rs1775264625
NM_015021.3(ZNF292):c.3709dup (p.Thr1237fs) rs1775284293
NM_015021.3(ZNF292):c.3724del (p.Gln1242fs) rs1775285095
NM_015021.3(ZNF292):c.3812C>A (p.Ser1271Ter) rs772762833
NM_015021.3(ZNF292):c.433del (p.Ser145fs) rs1772907934
NM_015021.3(ZNF292):c.4417dup (p.Ser1473fs) rs1775334064
NM_015021.3(ZNF292):c.4839_4840del (p.Asn1614fs) rs2127867376
NM_015021.3(ZNF292):c.4897A>T (p.Lys1633Ter) rs1775368255
NM_015021.3(ZNF292):c.5185C>T (p.Gln1729Ter) rs1280838951
NM_015021.3(ZNF292):c.5374_5378del (p.Asn1792fs) rs1775403177
NM_015021.3(ZNF292):c.5515_5569del (p.Glu1839fs) rs1775415071
NM_015021.3(ZNF292):c.5959_5965dup (p.Gly1989fs) rs1775442122
NM_015021.3(ZNF292):c.6142_6145del (p.Lys2048fs) rs764995318
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015021.3(ZNF292):c.6279dup (p.Arg2094fs) rs1775468280
NM_015021.3(ZNF292):c.6343C>T (p.Arg2115Ter) rs866467799
NM_015021.3(ZNF292):c.6541C>T (p.Arg2181Ter) rs377387515
NM_015021.3(ZNF292):c.6578A>C (p.Tyr2193Ser) rs1554208945
NM_015021.3(ZNF292):c.6661_6664del (p.Leu2221fs) rs1775494843
NM_015021.3(ZNF292):c.6935dup (p.Ser2313fs) rs1775514251
NM_015021.3(ZNF292):c.7062_7064del (p.Asn2354del) rs1775529808
NM_015021.3(ZNF292):c.7304_7308del (p.Val2435fs) rs1775548411
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) rs2529428295
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
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) rs2523535627
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_015409.5(EP400):c.3349_3352del (p.Leu1117fs) rs2136530742
NM_015409.5(EP400):c.6538G>T (p.Glu2180Ter) rs1234659324
NM_015466.4(PTPN23):c.4631C>T (p.Ser1544Phe) rs1705359063
NM_015557.3(CHD5):c.3680G>C (p.Gly1227Ala) rs1557544846
NM_015557.3(CHD5):c.4171+5G>A rs2100843378
NM_015559.3(SETBP1):c.3155_3159del (p.Gly1052fs) rs2145110485
NM_015565.3(LTN1):c.5220del (p.Lys1740fs) rs1389074071
NM_015902.6(UBR5):c.4791G>T (p.Glu1597Asp) rs1815507275
NM_015909.4(NBAS):c.603_605del (p.Leu202del) rs796065038
NM_015981.4(CAMK2A):c.1409A>G (p.Asp470Gly) rs2481475962
NM_016032.4(ZDHHC9):c.496G>C (p.Asp166His) rs2124105757
NM_016148.5(SHANK1):c.1505G>C (p.Arg502Pro)
NM_016148.5(SHANK1):c.4337_4343dup (p.Thr1451fs)
NM_016169.4(SUFU):c.555dup (p.Gln186fs) rs2135867122
NM_016281.4(TAOK3):c.1009del (p.Ser336_Leu337insTer) rs2139244484
NM_016284.5(CNOT1):c.820C>T (p.Arg274Cys) rs1351476758
NM_016333.4(SRRM2):c.109A>G (p.Lys37Glu)
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.2502T>G (p.Ser834Arg)
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.4537del (p.Gln1513fs) rs1567235879
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.5840G>T (p.Arg1947Leu)
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_016390.4(SPOUT1):c.1016A>G (p.Tyr339Cys) rs1830177686
NM_016390.4(SPOUT1):c.730G>A (p.Gly244Ser) rs2490935545
NM_016390.4(SPOUT1):c.741ATC[1] (p.Ser249del) rs749238902
NM_016390.4(SPOUT1):c.866C>T (p.Thr289Met) rs1830188049
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.485_486del (p.Glu162fs) rs2491966403
NM_016628.5(WAC):c.506_507del (p.Arg169fs) rs2491971646
NM_016734.3(PAX5):c.1129C>T (p.Arg377Ter) rs377685637
NM_016734.3(PAX5):c.157G>C (p.Asp53His) rs1337956293
NM_016734.3(PAX5):c.419G>A (p.Arg140Gln) rs2132424384
NM_016734.3(PAX5):c.661C>T (p.Arg221Trp) rs2132194720
NM_016734.3(PAX5):c.962C>A (p.Pro321His) rs577863510
NM_017588.3(WDR5):c.354+2dup rs2539673713
NM_017736.5(THUMPD1):c.133G>A (p.Gly45Ser) rs1430954456
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_017780.4(CHD7):c.2219A>G (p.Asp740Gly) rs761748737
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys) rs1064794250
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_018008.4(FEZF2):c.1266C>G (p.Cys422Trp)
NM_018263.6(ASXL2):c.2851C>T (p.Pro951Ser) rs2465305443
NM_018463.4(ITFG2):c.848-1G>A
NM_018486.3(HDAC8):c.415G>A (p.Gly139Arg) rs2147590837
NM_018489.3(ASH1L):c.3860_3861del (p.Phe1287fs) rs2527158994
NM_018489.3(ASH1L):c.6136C>T (p.Gln2046Ter) rs2526057284
NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser) rs398122939
NM_018914.3(PCDHGA11):c.1355T>G (p.Val452Gly) rs2489234461
NM_019066.5(MAGEL2):c.1542G>T (p.Trp514Cys) rs2140715759
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020159.5(SMARCAD1):c.2557T>A (p.Ser853Thr) rs1753894795
NM_020177.3(FEM1C):c.376G>C (p.Asp126His) rs2531722094
NM_020177.3(FEM1C):c.973A>G (p.Ile325Val)
NM_020180.4(CELF4):c.1037del (p.Pro346fs)
NM_020180.4(CELF4):c.287-5_300del
NM_020180.4(CELF4):c.348C>G (p.His116Gln)
NM_020180.4(CELF4):c.349G>T (p.Glu117Ter)
NM_020180.4(CELF4):c.370-67640C>A
NM_020180.4(CELF4):c.412C>T (p.Arg138Ter)
NM_020180.4(CELF4):c.475C>G (p.Leu159Val)
NM_020180.4(CELF4):c.557G>C (p.Gly186Ala)
NM_020180.4(CELF4):c.577+2T>G
NM_020180.4(CELF4):c.578G>T (p.Gly193Val)
NM_020180.4(CELF4):c.582C>A (p.Cys194Ter)
NM_020180.4(CELF4):c.792C>A (p.Tyr264Ter) rs561213595
NM_020180.4(CELF4):c.811C>T (p.Gln271Ter)
NM_020338.4(ZMIZ1):c.3150dup (p.Asp1051fs) rs762162611
NM_020340.5(ARFGEF3):c.3671_3672del (p.His1224fs) rs2482587638
NM_020706.2(SCAF4):c.1322G>C (p.Arg441Thr) rs2123543369
NM_020706.2(SCAF4):c.3254_3257del (p.Asp1085fs) rs750971849
NM_020719.3(PRR12):c.4344del (p.Glu1449fs) rs2122311106
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.2125C>T (p.Arg709Ter) rs1347078601
NM_020791.4(TAOK1):c.2161C>T (p.Gln721Ter) rs2150772043
NM_020791.4(TAOK1):c.227A>C (p.Glu76Ala) rs2508195156
NM_020791.4(TAOK1):c.289C>T (p.Arg97Cys) rs2508195356
NM_020791.4(TAOK1):c.332C>T (p.Ser111Phe) rs2030976698
NM_020922.5(WNK3):c.1089+1G>A rs2521900262
NM_020922.5(WNK3):c.1820A>T (p.Glu607Val) rs2521649714
NM_020922.5(WNK3):c.538-2A>G rs2521950956
NM_020922.5(WNK3):c.611C>G (p.Pro204Arg) rs2521949809
NM_020922.5(WNK3):c.721C>T (p.Arg241Ter) rs2521921552
NM_020922.5(WNK3):c.899T>C (p.Leu300Ser) rs2521919750
NM_020928.2(ZSWIM6):c.3488G>A (p.Arg1163Gln) rs2112298347
NM_021005.4(NR2F2):c.269A>G (p.His90Arg) rs2141166925
NM_021120.4(DLG3):c.2348-42_2348-4delinsAAGAGGAAAACAAAATTATTACTGTATACAG rs2147896811
NM_021160.3(ABHD16A):c.19T>C (p.Cys7Arg) rs2151263491
NM_021614.4(KCNN2):c.1771G>C (p.Gly591Arg) rs2150115220
NM_022048.5(CSNK1G1):c.1103A>G (p.Asn368Ser)
NM_022455.5(NSD1):c.2615T>G (p.Leu872Ter) rs1581321573
NM_022455.5(NSD1):c.6096G>C (p.Trp2032Cys) rs1581535605
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter) rs587784209
NM_022455.5(NSD1):c.6655del (p.Arg2219fs) rs2127279646
NM_022474.4(PALS1):c.1537+1G>T
NM_022474.4(PALS1):c.1851+1G>T
NM_022552.5(DNMT3A):c.2390A>G (p.Asn797Ser) rs767588813
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2693T>C (p.Ile898Thr) rs960019580
NM_022841.7(RFX7):c.2874AACCCC[4] (p.948PT[10]) rs766009038
NM_024496.4(IRF2BPL):c.285_322del (p.Ala102fs) rs1594798157
NM_024503.5(HIVEP3):c.4121A>G (p.His1374Arg) rs1644389600
NM_024665.7(TBL1XR1):c.803C>T (p.Pro268Leu) rs2108479510
NM_024665.7(TBL1XR1):c.851C>G (p.Ala284Gly) rs2108479372
NM_024721.5(ZFHX4):c.118C>T (p.Pro40Ser) rs1808179909
NM_024721.5(ZFHX4):c.1243G>T (p.Val415Leu)
NM_024721.5(ZFHX4):c.3965-1G>A rs1812496169
NM_024721.5(ZFHX4):c.4223_4224del (p.Thr1408fs) rs2131940356
NM_024721.5(ZFHX4):c.5695C>T (p.Arg1899Ter) rs1563560495
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_024989.4(PGAP1):c.1351-1G>T rs2468626295
NM_025004.3(CCDC15):c.268C>T (p.Arg90Ter) rs755396322
NM_025150.5(TARS2):c.388-1G>C rs2102476204
NM_030632.3(ASXL3):c.3403_3405delinsCC (p.Ser1135fs) rs2145424188
NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter) rs1204482456
NM_030665.4(RAI1):c.4519_4547dup (p.Cys1516fs) rs2543620151
NM_030954.4(RNF170):c.342C>G (p.Tyr114Ter) rs2128929811
NM_030971.6(SFXN3):c.628del (p.Ala210fs) rs563028036
NM_030973.4(MED25):c.275A>G (p.Tyr92Cys) rs549136898
NM_031206.7(LAS1L):c.1396G>T (p.Val466Phe) rs2148286671
NM_031370.3(HNRNPD):c.802C>T (p.Gln268Ter)
NM_031844.3(HNRNPU):c.1142dup (p.Tyr381Ter) rs2527880646
NM_032242.4(PLXNA1):c.1574_1575del (p.Leu525fs) rs2079056783
NM_032242.4(PLXNA1):c.231C>G (p.Asn77Lys) rs749105753
NM_032242.4(PLXNA1):c.2446T>C (p.Cys816Arg) rs2079109807
NM_032242.4(PLXNA1):c.356T>C (p.Leu119Pro) rs2107620082
NM_032242.4(PLXNA1):c.5242C>T (p.Arg1748Cys) rs2079215968
NM_032436.4(CHAMP1):c.969G>A (p.Trp323Ter) rs2139419874
NM_032536.4(NTNG2):c.1065C>G (p.Cys355Trp) rs1589568476
NM_032536.4(NTNG2):c.1076C>G (p.Ser359Cys) rs1589568530
NM_032536.4(NTNG2):c.1367G>A (p.Cys456Tyr) rs1589576879
NM_032536.4(NTNG2):c.242G>A (p.Cys81Tyr) rs1589440982
NM_032536.4(NTNG2):c.319T>G (p.Trp107Gly) rs1589441229
NM_032536.4(NTNG2):c.446T>C (p.Met149Thr) rs1589441679
NM_032536.4(NTNG2):c.599C>T (p.Ser200Leu) rs1227245973
NM_032590.5(KDM2B):c.54_58del (p.Arg18fs)
NM_032737.4(LMNB2):c.236C>T (p.Ser79Leu) rs2512249540
NM_032776.3(JMJD1C):c.2219T>C (p.Leu740Pro) rs2133216478
NM_032776.3(JMJD1C):c.5210T>C (p.Ile1737Thr) rs1845900106
NM_032776.3(JMJD1C):c.7225-2A>G rs2132807373
NM_032960.4(MAPKAPK2):c.445C>T (p.Arg149Ter) rs1673811124
NM_033109.5(PNPT1):c.420del (p.Leu141fs) rs1572834021
NM_033109.5:c.652A>T
NM_033629.6(TREX1):c.82del (p.Gln28fs) rs2530034152
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) rs2543953726
NM_052876.4(NACC1):c.133C>T (p.Arg45Trp) rs1555722264
NM_052909.5(PLEKHG4B):c.4192G>A (p.Asp1398Asn) rs750021350
NM_052942.5(GBP5):c.502_505dup (p.Ser169Ter) rs540327216
NM_057175.5(NAA15):c.1410+1G>T rs1553996876
NM_057175.5(NAA15):c.1841del (p.Asn614fs) rs1283385686
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_080546.5(SLC44A1):c.1009C>T (p.Gln337Ter) rs1588833694
NM_080632.3(UPF3B):c.1265AAG[2] (p.Glu424del) rs2056115071
NM_080632.3(UPF3B):c.263+3A>T rs2147802765
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter) rs2064355122
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.7861-1G>T rs1561231553
NM_134261.3(RORA):c.626_627del (p.Pro209fs) rs2141319872
NM_134261.3(RORA):c.900G>A (p.Trp300Ter) rs2141286330
NM_138572.3(TAF8):c.719_720del (p.Thr240fs) rs2127459499
NM_138572.3(TAF8):c.806_809del (p.Asn269fs) rs2127464524
NM_138690.3(GRIN3B):c.2114A>G (p.Tyr705Cys) rs747179788
NM_145059.3(FCSK):c.3164A>G (p.Asn1055Ser) rs2048935406
NM_145207.3(AFG2A):c.2174T>C (p.Phe725Ser) rs1394246954
NM_145716.4(SSBP3):c.177del (p.Leu59fs) rs2100828944
NM_147188.3(FBXO22):c.159_162del (p.Arg53fs) rs2141698833
NM_152269.5(MTRFR):c.-28-1489_283-968del
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_153252.5(BRWD3):c.3413G>A (p.Trp1138Ter) rs2147693460
NM_153816.6(SNX14):c.512del (p.Arg171fs) rs769742160
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 rs2129107221
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) rs2516419336
NM_172362.3(KCNH1):c.1136T>C (p.Leu379Pro) rs878853026
NM_173495.3(PTCHD1):c.2351_2352insCAT (p.Thr784_Lys785insIle) rs2518767618
NM_177438.3(DICER1):c.4691A>G (p.Glu1564Gly) rs2542489596
NM_177559.3(CSNK2A1):c.193GTT[2] (p.Val67del) rs2018548182
NM_181552.4(CUX1):c.1576del (p.Ser526fs) rs2131983329
NM_181552.4(CUX1):c.1687C>T (p.Gln563Ter) rs1794879475
NM_181675.4(PPP2R2B):c.930C>A (p.Asn310Lys) rs2151016852
NM_182641.4(BPTF):c.3805_3806del (p.Leu1269fs) rs2146930662
NM_182641.4(BPTF):c.7747_7750del (p.Asp2583fs) rs2512645913
NM_182710.3(KAT5):c.1622G>C (p.Ser541Thr) rs2495303016
NM_182931.3(KMT2E):c.2107G>T (p.Glu703Ter) rs1798679896
NM_182931.3(KMT2E):c.5226dup (p.Pro1743fs) rs2129570272
NM_182931.3(KMT2E):c.544dup (p.Glu182fs) rs2536417191
NM_182931.3(KMT2E):c.685A>T (p.Lys229Ter) rs2129567978
NM_197968.4(ZMYM2):c.1013T>G (p.Leu338Ter) rs2502237560
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_199141.2(CARM1):c.421A>G (p.Thr141Ala) rs2513483699
NM_199334.5(THRA):c.1132_1141del (p.Gly378fs) rs2145087228
NM_201599.3(ZMYM3):c.688_699dup (p.Lys233_Pro234insAlaSerGluLys) rs2519844077
NR_002757.3(RNU5B-1):n.44A>G
Single allele

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