NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)
|
rs144139747
|
0.00081
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_015087.5(SPART):c.364_365del (p.Met122fs)
|
rs775736341
|
0.00009
|
NM_016343.4(CENPF):c.4999C>T (p.Arg1667Ter)
|
rs375014198
|
0.00008
|
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)
|
rs200440128
|
0.00005
|
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln)
|
rs769236847
|
0.00004
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
NM_001160372.4(TRAPPC9):c.2809C>T (p.Arg937Ter)
|
rs889624353
|
0.00003
|
NM_001931.5(DLAT):c.976-1G>A
|
rs367875541
|
0.00003
|
NM_015087.5(SPART):c.1369C>T (p.Arg457Ter)
|
rs200373703
|
0.00003
|
NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln)
|
rs753237335
|
0.00003
|
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser)
|
rs77722678
|
0.00002
|
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)
|
rs756762196
|
0.00002
|
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)
|
rs121913293
|
0.00001
|
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter)
|
rs774592932
|
0.00001
|
NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter)
|
rs746612410
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_002693.3(POLG):c.1252T>C (p.Cys418Arg)
|
rs758112770
|
0.00001
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_005121.3(MED13):c.5683_5684del (p.Met1895fs)
|
rs750570850
|
0.00001
|
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val)
|
rs1277383877
|
0.00001
|
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)
|
rs201791209
|
0.00001
|
NM_057175.5(NAA15):c.239_240del (p.His80fs)
|
rs779009256
|
0.00001
|
NM_145207.3(AFG2A):c.1333C>T (p.Arg445Ter)
|
rs879782394
|
0.00001
|
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)
|
rs794727134
|
0.00001
|
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)
|
rs104894378
|
0.00001
|
NM_000110.4(DPYD):c.1379dup (p.Leu461fs)
|
rs779948148
|
|
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000188.3(HK1):c.1240G>A (p.Gly414Arg)
|
rs2132871580
|
|
NM_000192.3:c.(362+1_363-1)_(*1602_?)del
|
|
|
NM_000192.3:c.(362+1_363-1)_(510+1_511-1)del
|
|
|
NM_000192.3:c.(510+1_511-1)_(663+1_664-1)del
|
|
|
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)del
|
|
|
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)dup
|
|
|
NM_000192.3:c.(982+1_983-1)_(*1602_?)del
|
|
|
NM_000192.3:c.(?_-38)_(242+1_243-1)dup
|
|
|
NM_000192.3:c.(?_-667)_(*1602_?)del
|
|
|
NM_000192.3:c.(?_-667)_(755+1_756-1)dup
|
|
|
NM_000192.3:c.1033_1034dupGA
|
|
|
NM_000192.3:c.67_81delins
|
|
|
NM_000192.3:c.946C>T
|
|
|
NM_000194.3:c.-147_384del
|
|
|
NM_000284.4(PDHA1):c.499G>A (p.Val167Met)
|
rs2063174067
|
|
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)
|
rs1554893765
|
|
NM_000391.4(TPP1):c.89+1G>A
|
rs1855631590
|
|
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter)
|
rs587784241
|
|
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)
|
rs104894054
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
NM_000546.6(TP53):c.1077del (p.Ser362fs)
|
rs1555524370
|
|
NM_000814.6(GABRB3):c.901C>T (p.Pro301Ser)
|
rs1889966666
|
|
NM_000834.5(GRIN2B):c.3702_3705dup (p.Arg1236fs)
|
rs1948581537
|
|
NM_001003694.2(BRPF1):c.1313del (p.Val438fs)
|
rs2076997522
|
|
NM_001003694.2(BRPF1):c.1775dup (p.Arg593fs)
|
rs2125504267
|
|
NM_001003694.2(BRPF1):c.2311+1G>A
|
rs2077062359
|
|
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)
|
rs2111857835
|
|
NM_001029896.2(WDR45):c.510dup (p.Leu171fs)
|
rs2065033946
|
|
NM_001029896.2(WDR45):c.55+2_55+3del
|
rs1057519622
|
|
NM_001031710.3(KLHL7):c.1268A>G (p.His423Arg)
|
rs1583733628
|
|
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
|
|
|
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs)
|
rs606231193
|
|
NM_001038.6(SCNN1A):c.1579TTC[1] (p.Phe528del)
|
rs61759913
|
|
NM_001040142.2(SCN2A):c.3697G>T (p.Glu1233Ter)
|
rs1057519617
|
|
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu)
|
rs121917753
|
|
NM_001042537:c.916delC
|
|
|
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs)
|
rs1057519396
|
|
NM_001080517.3(SETD5):c.1744_1745del (p.Ser582fs)
|
rs2042128326
|
|
NM_001080517.3(SETD5):c.2386dup (p.Thr796fs)
|
rs2042902664
|
|
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter)
|
rs2045524028
|
|
NM_001080517.3(SETD5):c.345dup (p.Lys116fs)
|
rs2040365404
|
|
NM_001083619.3(GRIA2):c.258del (p.Val85_Tyr86insTer)
|
rs2126866545
|
|
NM_001083962.2(TCF4):c.922+1G>T
|
rs2059973359
|
|
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp)
|
rs1553255362
|
|
NM_001101.5(ACTB):c.217C>T (p.His73Tyr)
|
rs786205585
|
|
NM_001110792.2(MECP2):c.1147dup (p.His383fs)
|
rs1057519404
|
|
NM_001110792.2(MECP2):c.1170_1183del (p.Val392fs)
|
rs2148660771
|
|
NM_001110792.2(MECP2):c.1195_1202del (p.Pro399fs)
|
rs2148660481
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.726del (p.Gly244fs)
|
rs1064793576
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)
|
rs121912678
|
|
NM_001111125.3(IQSEC2):c.1613dup (p.Pro539fs)
|
rs2147102426
|
|
NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs)
|
rs1569290954
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)
|
rs121909326
|
|
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys)
|
rs1445802934
|
|
NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter)
|
rs2141540759
|
|
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs)
|
rs2105983330
|
|
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
|
rs794726730
|
|
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)
|
rs121918784
|
|
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr)
|
rs1057518325
|
|
NM_001165963.4(SCN1A):c.3550+2T>G
|
rs1574068971
|
|
NM_001170629.2(CHD8):c.2841_2845delinsATC (p.Asp948fs)
|
rs2139478486
|
|
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter)
|
rs1555318552
|
|
NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)
|
rs121912586
|
|
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)
|
rs1060502175
|
|
NM_001184880.2(PCDH19):c.97C>T (p.Gln33Ter)
|
rs1928479952
|
|
NM_001190274.2(FBXO11):c.2700_2703del (p.Ala902fs)
|
rs1670357007
|
|
NM_001197104.2(KMT2A):c.11031del (p.Ser3678fs)
|
|
|
NM_001197104.2(KMT2A):c.4246G>T (p.Glu1416Ter)
|
rs1555040446
|
|
NM_001197104.2(KMT2A):c.4696+1G>A
|
rs1057519407
|
|
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter)
|
rs1555034779
|
|
NM_001197104.2(KMT2A):c.517C>T (p.Arg173Ter)
|
rs1555035511
|
|
NM_001197104.2(KMT2A):c.5822del (p.Lys1941fs)
|
rs2134366416
|
|
NM_001197104.2(KMT2A):c.6002_6005del (p.Phe2001fs)
|
rs1057519408
|
|
NM_001197104.2(KMT2A):c.8270dup (p.Ile2758fs)
|
|
|
NM_001197104.2(KMT2A):c.9519_9520del (p.Gln3173_Ser3174insTer)
|
rs2134406005
|
|
NM_001197104.2(KMT2A):c.9839C>A (p.Ser3280Ter)
|
rs1950569353
|
|
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)
|
rs672601362
|
|
NM_001256182:c.7545delG
|
|
|
NM_001271.4(CHD2):c.1153+3_1153+19del
|
rs2141791104
|
|
NM_001271.4(CHD2):c.2767dup (p.Glu923fs)
|
rs2141844219
|
|
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter)
|
rs587777526
|
|
NM_001282531.3(ADNP):c.280C>T (p.Arg94Cys)
|
rs1186714720
|
|
NM_001282531.3(ADNP):c.898dup (p.Ser300fs)
|
rs2122759209
|
|
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)
|
rs1479104927
|
|
NM_001303052.2(MYT1L):c.1516T>C (p.Cys506Arg)
|
rs2052983721
|
|
NM_001303052.2(MYT1L):c.591C>G (p.Tyr197Ter)
|
rs528530098
|
|
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)
|
rs1602510200
|
|
NM_001321075.3(DLG4):c.1412G>A (p.Trp471Ter)
|
rs2142830996
|
|
NM_001321075.3(DLG4):c.1697del (p.Thr566fs)
|
rs2142822298
|
|
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
|
rs267608643
|
|
NM_001330288.2(SMARCC2):c.326dup (p.Tyr109Ter)
|
rs2135750656
|
|
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)
|
rs724159953
|
|
NM_001347721.2(DYRK1A):c.205C>T (p.Gln69Ter)
|
rs1555977171
|
|
NM_001347721.2(DYRK1A):c.270_274del (p.Leu91fs)
|
rs1057519402
|
|
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)
|
rs1057518204
|
|
NM_001348323.3(TRIP12):c.4302_4303del (p.Tyr1435fs)
|
rs2154259932
|
|
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs)
|
rs1064793130
|
|
NM_001356.5(DDX3X):c.119C>G (p.Pro40Arg)
|
rs1064793858
|
|
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp)
|
rs2063923749
|
|
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs)
|
rs2063876393
|
|
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg)
|
rs2063876594
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter)
|
rs1165205177
|
|
NM_001371928.1(AHDC1):c.3756del (p.Ala1253fs)
|
rs2148265469
|
|
NM_001371928.1(AHDC1):c.4423del (p.Arg1475fs)
|
rs2019248120
|
|
NM_001372044.2(SHANK3):c.3867dup (p.Thr1290fs)
|
rs2083287955
|
|
NM_001372044.2(SHANK3):c.4254_4255del (p.Ser1418fs)
|
rs1057519395
|
|
NM_001372044.2(SHANK3):c.4835_4839dup (p.Leu1615fs)
|
rs2146843340
|
|
NM_001372044.2(SHANK3):c.5107C>A (p.Arg1703Ser)
|
rs2083360139
|
|
NM_001374828.1(ARID1B):c.3345G>C (p.Lys1115Asn)
|
rs1583451360
|
|
NM_001374828.1(ARID1B):c.5840del (p.Gly1947fs)
|
rs2128393408
|
|
NM_001375380.1(EBF3):c.481T>A (p.Cys161Ser)
|
rs1859258788
|
|
NM_001376.5(DYNC1H1):c.3781T>G (p.Trp1261Gly)
|
rs879253961
|
|
NM_001376.5(DYNC1H1):c.8234C>A (p.Thr2745Lys)
|
rs2152583773
|
|
NM_001378418.1(TCF20):c.2224C>T (p.Arg742Ter)
|
rs1555926209
|
|
NM_001378418.1(TCF20):c.3119C>G (p.Ser1040Ter)
|
rs2147207397
|
|
NM_001378418.1(TCF20):c.4982_4985del (p.Val1661fs)
|
rs1920933220
|
|
NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met)
|
rs2106492941
|
|
NM_001379110.1(SLC9A6):c.726del (p.Ala243fs)
|
rs1057519394
|
|
NM_001429.4(EP300):c.2164dup (p.Gln722fs)
|
rs879253873
|
|
NM_001493.3(GDI1):c.1060_1064del (p.Ser354fs)
|
rs2068755805
|
|
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His)
|
rs1555666392
|
|
NM_001673.5(ASNS):c.182C>T (p.Pro61Leu)
|
rs2115753664
|
|
NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter)
|
rs794729667
|
|
NM_001904.4(CTNNB1):c.1487_1494del (p.Lys496fs)
|
rs2125640691
|
|
NM_002074.5(GNB1):c.229G>T (p.Gly77Cys)
|
rs758432471
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002430.3(MN1):c.3744G>A (p.Trp1248Ter)
|
rs1297805962
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
NM_002971.6(SATB1):c.1876_1978del (p.Pro626fs)
|
rs2125122990
|
|
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)
|
rs387907306
|
|
NM_003036.4(SKI):c.101G>T (p.Gly34Val)
|
rs387907305
|
|
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)
|
rs1131691302
|
|
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met)
|
rs1064794981
|
|
NM_003042.4(SLC6A1):c.404G>A (p.Trp135Ter)
|
rs1697263091
|
|
NM_003106.4(SOX2):c.329A>C (p.Tyr110Ser)
|
rs2108522189
|
|
NM_003394.4(WNT10B):c.817del (p.Ala273fs)
|
|
|
NM_003394.4(WNT10B):c.817dup (p.Ala273fs)
|
|
|
NM_003482.4(KMT2D):c.10552C>T (p.Gln3518Ter)
|
rs2120454881
|
|
NM_003482.4(KMT2D):c.2544del (p.Glu848fs)
|
rs2120663922
|
|
NM_003482.4(KMT2D):c.4168del (p.Ala1390fs)
|
rs756471180
|
|
NM_003482.4(KMT2D):c.538_539insA (p.Ala180fs)
|
rs1938253506
|
|
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter)
|
rs1452715535
|
|
NM_003620.4(PPM1D):c.1262dup (p.Leu422fs)
|
rs2143730785
|
|
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys)
|
rs886037836
|
|
NM_004187.5(KDM5C):c.2622+2dup
|
rs1057519393
|
|
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu)
|
rs397516892
|
|
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)
|
rs397507466
|
|
NM_004380.3(CREBBP):c.3779+1G>C
|
rs587783483
|
|
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)
|
rs2051830234
|
|
NM_004444.5(EPHB4):c.2011T>C (p.Phe671Leu)
|
rs2116431707
|
|
NM_004463.3(FGD1):c.1327C>T (p.Arg443Cys)
|
rs2147434008
|
|
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys)
|
rs1064794694
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)
|
|
|
NM_004523.4(KIF11):c.934C>T (p.Arg312Ter)
|
rs2135905068
|
|
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)
|
rs2051507892
|
|
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile)
|
rs28939714
|
|
NM_004551.3(NDUFS3):c.473_474del (p.Ser158fs)
|
rs2153795389
|
|
NM_004655.4(AXIN2):c.-12_8del (p.Met1fs)
|
rs768265778
|
|
NM_004655.4(AXIN2):c.1928_1941del (p.Ala643fs)
|
rs2144443827
|
|
NM_004655.4(AXIN2):c.1989G>A (p.Trp663Ter)
|
rs730882193
|
|
NM_004655.4(AXIN2):c.2086C>T (p.Gln696Ter)
|
rs2043915274
|
|
NM_004655.4(AXIN2):c.2092G>T (p.Glu698Ter)
|
rs2144440026
|
|
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg)
|
rs587777848
|
|
NM_004975.4(KCNB1):c.968C>T (p.Thr323Ile)
|
rs1569017257
|
|
NM_005105.5(RBM8A):c.-19G>T
|
rs760383043
|
|
NM_005105.5(RBM8A):c.205+3_205+6del
|
rs1648185461
|
|
NM_005105.5(RBM8A):c.206-13C>A
|
rs1350809730
|
|
NM_005121.3(MED13):c.4191+1G>A
|
rs2143386698
|
|
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)
|
rs267606826
|
|
NM_005402.4(RALA):c.470C>T (p.Ser157Phe)
|
rs2116098893
|
|
NM_005618.4(DLL1):c.386_387del (p.Thr129fs)
|
rs2114964680
|
|
NM_005629.4(SLC6A8):c.1016+2T>C
|
rs1557045066
|
|
NM_005654.6(NR2F1):c.704G>T (p.Arg235Leu)
|
rs2149943041
|
|
NM_005676.5(RBM10):c.292C>T (p.Arg98Ter)
|
rs1556772860
|
|
NM_005859.5(PURA):c.178G>T (p.Glu60Ter)
|
rs1763041722
|
|
NM_005859.5(PURA):c.459dup (p.Lys154fs)
|
rs1763047286
|
|
NM_006015.6(ARID1A):c.3061A>G (p.Lys1021Glu)
|
rs2081052495
|
|
NM_006015.6(ARID1A):c.3197_3198insAA (p.Val1067fs)
|
rs2081053573
|
|
NM_006086.4(TUBB3):c.577G>A (p.Val193Met)
|
rs2030404834
|
|
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)
|
rs121913287
|
|
NM_006236.3(POU3F3):c.967G>T (p.Glu323Ter)
|
rs2104340954
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala)
|
rs1064794719
|
|
NM_006306.4(SMC1A):c.1388_1389insC (p.Glu464fs)
|
rs1057519398
|
|
NM_006306.4(SMC1A):c.2122del (p.Leu708fs)
|
rs2146599339
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006516.4(SLC2A1):c.844C>T (p.Gln282Ter)
|
rs1057521066
|
|
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)
|
rs199469464
|
|
NM_006734.4(HIVEP2):c.476_477del (p.Asn159fs)
|
rs2114664519
|
|
NM_006766.5(KAT6A):c.1663del (p.Gln555fs)
|
rs1822554467
|
|
NM_006766.5(KAT6A):c.2218del (p.Arg740fs)
|
rs1587723169
|
|
NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter)
|
rs768856558
|
|
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)
|
rs786200960
|
|
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
|
rs397514670
|
|
NM_006772.3(SYNGAP1):c.1685del (p.Pro562fs)
|
rs1057519405
|
|
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)
|
rs1060503386
|
|
NM_006772.3(SYNGAP1):c.1908_1909del (p.Ser637fs)
|
rs1057519400
|
|
NM_006772.3(SYNGAP1):c.3179del (p.Gly1060fs)
|
rs1581996813
|
|
NM_006852.6(TLK2):c.1550+1G>A
|
rs2147105351
|
|
NM_006908.5(RAC1):c.116A>G (p.Asn39Ser)
|
|
|
NM_006914.4(RORB):c.423T>G (p.Tyr141Ter)
|
rs149294914
|
|
NM_006940.4:c.482_810del
|
|
|
NM_006940.6(SOX5):c.1678A>G (p.Met560Val)
|
rs1591908609
|
|
NM_007118.4(TRIO):c.5203+1_5203+2dup
|
rs1749983541
|
|
NM_007327.4(GRIN1):c.1921A>T (p.Met641Leu)
|
rs2131299136
|
|
NM_007363.5(NONO):c.201_202dup (p.Lys68fs)
|
rs2148033408
|
|
NM_007363.5(NONO):c.279_282del (p.Phe94fs)
|
rs2148033495
|
|
NM_007363.5(NONO):c.710del (p.Pro237fs)
|
rs2148038538
|
|
NM_012280.4(FTSJ1):c.256del (p.Val86fs)
|
rs2061548936
|
|
NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter)
|
rs772229371
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs)
|
rs2034464059
|
|
NM_013275.6(ANKRD11):c.5504del (p.Leu1835fs)
|
rs1057519399
|
|
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter)
|
rs763407068
|
|
NM_013275.6(ANKRD11):c.7103_7106del (p.Arg2368fs)
|
rs2033967776
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter)
|
rs786204815
|
|
NM_014795.4(ZEB2):c.2142_2143del (p.Leu715fs)
|
rs2149876810
|
|
NM_014795.4(ZEB2):c.2958_2961del (p.Ser987fs)
|
rs1703231612
|
|
NM_014795.4(ZEB2):c.331+1G>T
|
rs1703742764
|
|
NM_014991.6(WDFY3):c.2459_2460del (p.Pro820fs)
|
rs1750979319
|
|
NM_014991.6(WDFY3):c.4063-1G>T
|
rs2149494307
|
|
NM_015001.3(SPEN):c.6006dup (p.Glu2003Ter)
|
rs2148740780
|
|
NM_015021.3(ZNF292):c.2291dup (p.Tyr764Ter)
|
rs2127859550
|
|
NM_015100.4(POGZ):c.2433-2A>T
|
rs1653770239
|
|
NM_015215.4(CAMTA1):c.4767del (p.Lys1589fs)
|
rs754008719
|
|
NM_015335.5(MED13L):c.329G>A (p.Trp110Ter)
|
rs2137899543
|
|
NM_015335.5(MED13L):c.4452del (p.Phe1484fs)
|
rs1555243582
|
|
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs)
|
rs1555243059
|
|
NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter)
|
rs2137223723
|
|
NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter)
|
rs1569337452
|
|
NM_015443.4(KANSL1):c.1110del (p.Phe370_Leu371insTer)
|
rs2147733170
|
|
NM_015559.3(SETBP1):c.1190C>A (p.Ser397Ter)
|
rs2071318911
|
|
NM_015898.4(ZBTB7A):c.1466_1496del (p.Gly489fs)
|
rs2144973210
|
|
NM_015937.6(PIGT):c.910dup (p.Tyr304fs)
|
rs2145450794
|
|
NM_016269.5(LEF1):c.1042TAT[1] (p.Tyr349del)
|
rs2126274969
|
|
NM_016269.5(LEF1):c.544del (p.Gln182fs)
|
rs2110266987
|
|
NM_016284.5(CNOT1):c.3562G>T (p.Asp1188Tyr)
|
rs2151924068
|
|
NM_016284.5(CNOT1):c.4321G>A (p.Ala1441Thr)
|
rs2151918356
|
|
NM_016343.4(CENPF):c.8786C>G (p.Ser2929Ter)
|
rs2102419503
|
|
NM_016373.4(WWOX):c.1129AAC[1] (p.Asn378del)
|
rs1567625065
|
|
NM_016373.4(WWOX):c.1171G>T (p.Glu391Ter)
|
rs375757102
|
|
NM_016604.4(KDM3B):c.3046C>T (p.Gln1016Ter)
|
rs2126959971
|
|
NM_016628.5(WAC):c.1746+2T>C
|
rs2132863198
|
|
NM_017934.7(PHIP):c.2305_2306insGA (p.Pro769fs)
|
rs1769197412
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018082.6(POLR3B):c.2774C>A (p.Pro925Gln)
|
rs775141057
|
|
NM_018297.4(NGLY1):c.710T>C (p.Phe237Ser)
|
rs2125485574
|
|
NM_018489.3(ASH1L):c.5502dup (p.Leu1835fs)
|
rs1662293206
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs)
|
rs1674480467
|
|
NM_020771.4(HACE1):c.355G>T (p.Glu119Ter)
|
rs2115167557
|
|
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser)
|
rs1057519565
|
|
NM_022168.4(IFIH1):c.1850T>C (p.Ile617Thr)
|
rs2105197765
|
|
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)
|
rs587784077
|
|
NM_022455.5(NSD1):c.2636_2637del (p.Ser879fs)
|
rs1554189720
|
|
NM_022455.5(NSD1):c.3271dup (p.Leu1091fs)
|
rs1763353656
|
|
NM_022455.5(NSD1):c.3548_3549insG (p.Ser1183_Glu1184insTer)
|
rs878855075
|
|
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)
|
rs794727176
|
|
NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp)
|
rs1760069281
|
|
NM_022893.4(BCL11A):c.1078dup (p.Leu360fs)
|
rs768799046
|
|
NM_024821.5(CCDC134):c.2T>C (p.Met1Thr)
|
|
|
NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter)
|
rs1006839535
|
|
NM_025074.7(FRAS1):c.11897dup (p.Asn3967fs)
|
rs1560433104
|
|
NM_030632.3(ASXL3):c.5819del (p.Gly1940fs)
|
rs2145433524
|
|
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)
|
rs886041876
|
|
NM_031844.3(HNRNPU):c.551del (p.Ala184fs)
|
rs2102990567
|
|
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)
|
rs1331463984
|
|
NM_032490.5(GON7):c.21C>A (p.Tyr7Ter)
|
rs1218573239
|
|
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
|
NM_052867.4(NALCN):c.2435dup (p.Glu813fs)
|
rs1594218864
|
|
NM_057175.5(NAA15):c.1027G>T (p.Glu343Ter)
|
rs2110941169
|
|
NM_078480.3(PUF60):c.284_285del (p.Leu95fs)
|
rs1817027997
|
|
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)
|
rs1131692232
|
|
NM_078480.3(PUF60):c.612_630del (p.Asn207fs)
|
rs1816565452
|
|
NM_078480.3(PUF60):c.712_713del (p.Ser238fs)
|
rs1816555365
|
|
NM_078480.3(PUF60):c.746_747insCACAC (p.Gly250fs)
|
rs1816551992
|
|
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer)
|
rs863225068
|
|
NM_133330.3(NSD2):c.1676_1679del
|
rs1553873247
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152564.5(VPS13B):c.1418del (p.Ser473fs)
|
|
|
NM_152564.5(VPS13B):c.8070del (p.Gln2691fs)
|
rs1813589674
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)
|
rs121434312
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_170606.3(KMT2C):c.12415C>T (p.Arg4139Ter)
|
rs2091742405
|
|
NM_170606.3(KMT2C):c.6449del (p.Gly2150fs)
|
rs2129119932
|
|
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)
|
rs2080906453
|
|
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs)
|
rs796052657
|
|
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn)
|
rs2082232988
|
|
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys)
|
rs796052626
|
|
NM_172107.4(KCNQ2):c.807G>T (p.Trp269Cys)
|
rs118192208
|
|
NM_177559.3(CSNK2A1):c.466G>C (p.Asp156His)
|
rs1568512728
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_181486.4(TBX5):c.1045G>T (p.Glu349Ter)
|
rs1565923887
|
|
NM_181486.4(TBX5):c.1074del (p.Pro359fs)
|
|
|
NM_181486.4(TBX5):c.1084C>T (p.Gln362Ter)
|
rs765204502
|
|
NM_181486.4(TBX5):c.119C>A (p.Ser40Ter)
|
rs903933027
|
|
NM_181486.4(TBX5):c.1203G>A (p.Trp401Ter)
|
rs377649723
|
|
NM_181486.4(TBX5):c.1269C>G (p.Tyr423Ter)
|
rs756049331
|
|
NM_181486.4(TBX5):c.1303del (p.Leu435fs)
|
|
|
NM_181486.4(TBX5):c.1346del (p.Gln449fs)
|
|
|
NM_181486.4(TBX5):c.261C>A (p.Tyr87Ter)
|
rs767197919
|
|
NM_181486.4(TBX5):c.295A>T (p.Lys99Ter)
|
rs1565941529
|
|
NM_181486.4(TBX5):c.336del (p.His112fs)
|
|
|
NM_181486.4(TBX5):c.342C>A (p.Tyr114Ter)
|
rs1565941422
|
|
NM_181486.4(TBX5):c.426del (p.Ala143fs)
|
|
|
NM_181486.4(TBX5):c.444G>A (p.Trp148Ter)
|
rs1555226315
|
|
NM_181486.4(TBX5):c.457dup (p.Val153fs)
|
|
|
NM_181486.4(TBX5):c.496del (p.Asp166fs)
|
|
|
NM_181486.4(TBX5):c.500del (p.Pro167fs)
|
|
|
NM_181486.4(TBX5):c.537C>A (p.Tyr179Ter)
|
rs1565939337
|
|
NM_181486.4(TBX5):c.559_572dup (p.Asn191fs)
|
rs1565939303
|
|
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter)
|
rs886041247
|
|
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
|
|
|
NM_181486.4(TBX5):c.635_636del (p.Ile212fs)
|
|
|
NM_181486.4(TBX5):c.674T>G (p.Leu225Ter)
|
rs1565935432
|
|
NM_181486.4(TBX5):c.680_683del (p.Ile227fs)
|
rs1565935410
|
|
NM_181486.4(TBX5):c.703G>T (p.Gly235Ter)
|
rs1565935397
|
|
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp)
|
rs104894382
|
|
NM_181486.4(TBX5):c.713dup (p.Ser239fs)
|
|
|
NM_181486.4(TBX5):c.728_729del (p.Glu243fs)
|
|
|
NM_181486.4(TBX5):c.73_74insT (p.Asp25fs)
|
rs1565943328
|
|
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)
|
rs863223788
|
|
NM_181486.4(TBX5):c.845C>T (p.Ser282Phe)
|
rs1565927794
|
|
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter)
|
rs1565927747
|
|
NM_181486.4(TBX5):c.879T>A (p.Cys293Ter)
|
rs1565927740
|
|
NM_181486.4(TBX5):c.924del (p.Asn309fs)
|
|
|
NM_181486.4(TBX5):c.933C>G (p.Tyr311Ter)
|
rs1565927664
|
|
NM_181486.4(TBX5):c.943C>T (p.Gln315Ter)
|
rs1565927645
|
|
NM_181486.4(TBX5):c.978del (p.Glu328fs)
|
|
|
NM_182641.4(BPTF):c.5575_5576del (p.Arg1859fs)
|
rs2147247193
|
|
NM_182931.3(KMT2E):c.3241_3257del (p.Asn1081fs)
|
rs2129569915
|
|
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln)
|
rs864309515
|
|
NM_205768.3(ZBTB18):c.1143C>A (p.Cys381Ter)
|
rs1698428230
|
|
NM_205768.3(ZBTB18):c.877_881del (p.Asp293fs)
|
rs2148556854
|
|