ClinVar Miner

List of variants reported by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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ClinVar version:
Total variants: 811
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HGVS dbSNP gnomAD frequency
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser) rs56098093 0.00404
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) rs150801382 0.00221
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_004608.4(TBX6):c.815G>A (p.Arg272Gln) rs201231713 0.00078
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met) rs191563592 0.00009
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530 0.00009
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_001128159.3(VPS53):c.1247C>A (p.Pro416Gln) rs766555766 0.00007
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_006180.6(NTRK2):c.2374C>T (p.Arg792Cys) rs201902834 0.00004
NM_016032.4(ZDHHC9):c.881+3G>A rs775743190 0.00004
NM_001170629.2(CHD8):c.4310G>A (p.Arg1437His) rs1176349106 0.00003
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys) rs995323393 0.00003
NM_002354.3(EPCAM):c.556-14A>G rs376155665 0.00003
NM_006015.6(ARID1A):c.500C>T (p.Ala167Val) rs1327610437 0.00003
NM_006268.5(DPF2):c.23T>C (p.Val8Ala) rs148550551 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_001042681.2(RERE):c.1727G>A (p.Arg576Gln) rs375547664 0.00001
NM_001046.3(SLC12A2):c.3257T>C (p.Ile1086Thr) rs1206093526 0.00001
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=) rs1347561457 0.00001
NM_001271.4(CHD2):c.5134C>T (p.His1712Tyr) rs1006465697 0.00001
NM_001375524.1(TRRAP):c.4079C>T (p.Pro1360Leu) rs139426093 0.00001
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe) rs754043007 0.00001
NM_004595.5(SMS):c.319C>T (p.Arg107Trp) rs746297985 0.00001
NM_004608.4(TBX6):c.656G>A (p.Arg219His) rs560931949 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs) rs1783602877 0.00001
NM_006494.4(ERF):c.247C>T (p.Arg83Trp) rs766762597 0.00001
NM_006662.3(SRCAP):c.143C>T (p.Pro48Leu) rs1170509653 0.00001
NM_014423.4(AFF4):c.2796+1G>A rs1760162741 0.00001
NM_014712.3(SETD1A):c.754A>G (p.Ser252Gly) rs550183612 0.00001
NM_015001.3(SPEN):c.92G>A (p.Arg31His) rs1460194680 0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_016580.4(PCDH12):c.2515C>T (p.Arg839Ter) rs375346212 0.00001
NM_017780.4(CHD7):c.6070C>G (p.Arg2024Gly) rs1360515765 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
NM_021072.4(HCN1):c.1845C>G (p.Asn615Lys) rs200841444 0.00001
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu) rs767345324 0.00001
NM_032634.4(PIGO):c.163C>T (p.Gln55Ter) rs1829625950 0.00001
NC_000001.11:g.153812287_153823987del
NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp) rs2043341481
NM_000142.5(FGFR3):c.172G>C (p.Glu58Gln)
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
NM_000284.4(PDHA1):c.5G>C (p.Arg2Thr) rs2063114288
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000344.3:c.*3+32_*3+33insSVA
NM_000489.6(ATRX):c.371-10A>G rs2148670017
NM_000516.7(GNAS):c.692G>A (p.Arg231His) rs137854538
NM_000540.3(RYR1):c.10865del (p.Lys3622fs)
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000548.5(TSC2):c.183A>G (p.Ile61Met) rs2084961841
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln) rs2101996488
NM_000719.7(CACNA1C):c.1480G>T (p.Ala494Ser)
NM_000719.7(CACNA1C):c.1529A>G (p.Asn510Ser) rs2050947096
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) rs786205755
NM_000810.4(GABRA5):c.730T>C (p.Tyr244His)
NM_000814.6(GABRB3):c.630G>C (p.Gln210His) rs1890744574
NM_000815.5(GABRD):c.370A>G (p.Thr124Ala)
NM_000827.4(GRIA1):c.1444G>T (p.Val482Phe)
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) rs587776937
NM_000829.4(GRIA4):c.83A>C (p.Gln28Pro)
NM_000834.5(GRIN2B):c.1108G>T (p.Glu370Ter)
NM_000834.5(GRIN2B):c.1755T>G (p.Tyr585Ter)
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2171+3A>G rs1591612223
NM_000834.5(GRIN2B):c.23_24insC (p.Ser9fs)
NM_000834.5(GRIN2B):c.2431A>T (p.Ser811Cys)
NM_000836.4(GRIN2D):c.2599C>T (p.His867Tyr)
NM_000937.5(POLR2A):c.1051C>T (p.Arg351Ter) rs2150880440
NM_000944.5(PPP3CA):c.113A>T (p.Asp38Val)
NM_000944.5(PPP3CA):c.1530_1537dup (p.Asn513fs)
NM_000944.5(PPP3CA):c.1544G>A (p.Ser515Asn) rs2110200440
NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs) rs2076994968
NM_001003694.2(BRPF1):c.2983C>T (p.Arg995Cys)
NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter) rs2125500187
NM_001003800.2(BICD2):c.1849del (p.Pro616_Leu617insTer)
NM_001005273.3(CHD3):c.107A>T (p.Asp36Val)
NM_001005273.3(CHD3):c.2657A>G (p.His886Arg) rs1567855081
NM_001005273.3(CHD3):c.3514C>T (p.Arg1172Trp) rs867862540
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005273.3(CHD3):c.3894G>A (p.Lys1298=)
NM_001005273.3(CHD3):c.4024C>T (p.Arg1342Trp) rs2151615708
NM_001007228.2(SPOP):c.216C>A (p.Asn72Lys)
NM_001015877.2(PHF6):c.449A>T (p.Glu150Val)
NM_001020658.2(PUM1):c.3283G>A (p.Glu1095Lys) rs1639226190
NM_001029896.2(WDR45):c.235G>T (p.Val79Leu)
NM_001029896.2(WDR45):c.827+2dup rs1602537729
NM_001031710.3(KLHL7):c.619-349A>G
NM_001032221.6(STXBP1):c.1111-10_1111-6delinsG rs1588339504
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) rs2063451959
NM_001033561.2(PHF12):c.2660C>G (p.Ala887Gly) rs2152654596
NM_001039469.3(MARK2):c.404-1G>A rs2135335880
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile) rs2147245804
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter) rs2063213305
NM_001039591.3(USP9X):c.6016A>G (p.Ser2006Gly)
NM_001039591.3(USP9X):c.6458dup (p.Ser2153fs) rs2063238551
NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His) rs2105255398
NM_001040142.2(SCN2A):c.1800del (p.Phe601fs)
NM_001040142.2(SCN2A):c.2103G>T (p.Arg701Ser) rs370024759
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001040142.2(SCN2A):c.3322_3323delinsAA (p.Ala1108Asn) rs2105337506
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001042681.2(RERE):c.2638_2644del (p.Gln880fs)
NM_001046.3(SLC12A2):c.1529A>G (p.Asp510Gly)
NM_001069.3(TUBB2A):c.1201G>T (p.Glu401Ter) rs2113784970
NM_001079843.3(CASZ1):c.2161A>G (p.Ser721Gly)
NM_001080517.3(SETD5):c.1316C>G (p.Thr439Ser)
NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter) rs2045177486
NM_001080517.3(SETD5):c.2807_2809delinsAA (p.Leu936fs) rs2045187265
NM_001080517.3(SETD5):c.3172dup (p.Gln1058fs) rs1197870764
NM_001080517.3(SETD5):c.387del (p.Gly130fs)
NM_001080517.3(SETD5):c.890_897delinsC (p.Leu297fs) rs2125187678
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys) rs2047177327
NM_001081550.2(THOC2):c.374A>G (p.Glu125Gly) rs2050464723
NM_001082538.3(TCTN1):c.1105-3C>G
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)
NM_001083619.3(GRIA2):c.2263dup (p.Ile755fs)
NM_001083962.2(TCF4):c.1499G>T (p.Gly500Val)
NM_001083962.2(TCF4):c.1717A>G (p.Asn573Asp)
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del) rs1599375711
NM_001100399.2(PDS5A):c.2153+1G>A rs1720512441
NM_001105562.3(UBE4B):c.3307C>T (p.Gln1103Ter)
NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) rs863223635
NM_001110792.2(MECP2):c.1084_1314del (p.Ser362_Ser438del) rs2148659063
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1192dup (p.Leu398fs)
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.556A>C (p.Lys186Gln)
NM_001110792.2(MECP2):c.60A>C (p.Arg20Ser)
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs) rs2074096700
NM_001127222.2(CACNA1A):c.2950C>T (p.Arg984Trp)
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.38G>C (p.Gly13Ala) rs1462714993
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127392.3(MYRF):c.306C>G (p.Asn102Lys) rs2135748046
NM_001127644.2(GABRA1):c.1315T>C (p.Trp439Arg) rs1755416622
NM_001127715.4(STXBP5):c.2498_2499insT (p.Gly834fs)
NM_001128840.3(CACNA1D):c.2777T>C (p.Phe926Ser)
NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)
NM_001130438.3(SPTAN1):c.3102T>G (p.Asn1034Lys)
NM_001130438.3(SPTAN1):c.5818G>T (p.Asp1940Tyr)
NM_001130438.3(SPTAN1):c.6979G>A (p.Glu2327Lys) rs2132094752
NM_001134382.3(IQSEC1):c.1162_1163del (p.Lys388fs) rs2125307036
NM_001134382.3(IQSEC1):c.2764G>A (p.Gly922Arg) rs1694511803
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg) rs1596476657
NM_001134407.3(GRIN2A):c.2357-40_*41del
NM_001144967.3(NEDD4L):c.1592A>G (p.Lys531Arg) rs2145557222
NM_001144967.3(NEDD4L):c.2399C>A (p.Thr800Lys)
NM_001145313.3(FSD1L):c.1411C>T (p.Gln471Ter)
NM_001148.6(ANK2):c.29G>A (p.Ser10Asn)
NM_001148.6(ANK2):c.3580G>T (p.Val1194Leu)
NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter)
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)
NM_001161352.2(KCNMA1):c.280T>G (p.Ser94Ala)
NM_001162501.2(TNRC6B):c.1723G>A (p.Gly575Arg)
NM_001162501.2(TNRC6B):c.2233G>A (p.Gly745Arg)
NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter)
NM_001170629.2(CHD8):c.1228C>T (p.Gln410Ter)
NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)
NM_001170629.2(CHD8):c.2365-10T>G
NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)
NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)
NM_001170629.2(CHD8):c.4081G>T (p.Glu1361Ter)
NM_001170629.2(CHD8):c.7508A>C (p.His2503Pro)
NM_001170629.2(CHD8):c.7638TGA[2] (p.Asp2549del)
NM_001172509.2(SATB2):c.1166G>C (p.Arg389Pro)
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1610del (p.Asn537fs) rs1574492395
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001173464.2(KIF21A):c.2515C>T (p.Pro839Ser)
NM_001184880.2(PCDH19):c.1516G>A (p.Val506Ile)
NM_001190274.2(FBXO11):c.147_182dup (p.Gln50_Pro61dup) rs1478658114
NM_001190274.2(FBXO11):c.1921G>A (p.Val641Ile)
NM_001190274.2(FBXO11):c.2747C>T (p.Ala916Val)
NM_001190737.2(NFIB):c.142C>T (p.Arg48Ter) rs2132704082
NM_001190737.2(NFIB):c.254G>T (p.Arg85Leu)
NM_001190737.2(NFIB):c.769G>C (p.Val257Leu)
NM_001197104.2(KMT2A):c.10426G>C (p.Asp3476His)
NM_001197104.2(KMT2A):c.10835+1G>A
NM_001197104.2(KMT2A):c.3569+2T>G
NM_001197104.2(KMT2A):c.4032del (p.Val1347fs) rs1591385663
NM_001197104.2(KMT2A):c.4054A>G (p.Ser1352Gly)
NM_001197104.2(KMT2A):c.836C>G (p.Ser279Cys)
NM_001197104.2(KMT2A):c.9575A>C (p.Gln3192Pro)
NM_001204.7(BMPR2):c.1790G>T (p.Arg597Leu) rs779639954
NM_001219.5(CALU):c.700C>T (p.Arg234Ter)
NM_001220.5(CAMK2B):c.1528G>T (p.Glu510Ter)
NM_001220.5(CAMK2B):c.418G>C (p.Glu140Gln)
NM_001220.5(CAMK2B):c.767A>G (p.Asn256Ser)
NM_001242896.3(DEPDC5):c.2203G>A (p.Gly735Ser) rs2091055264
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001244008.2(KIF1A):c.1645C>T (p.His549Tyr)
NM_001244008.2(KIF1A):c.377T>C (p.Leu126Pro) rs2055064647
NM_001256012.3(MYH10):c.3364G>T (p.Glu1122Ter)
NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln) rs1038557470
NM_001265.6(CDX2):c.940T>C (p.Ter314Arg) rs1593181774
NM_001270.4(CHD1):c.530A>G (p.Glu177Gly) rs1751687577
NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)
NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro)
NM_001271.4(CHD2):c.4280del (p.Pro1427fs) rs2054297318
NM_001271.4(CHD2):c.5474T>G (p.Val1825Gly)
NM_001271.4(CHD2):c.995_999del (p.Val332fs)
NM_001273.5(CHD4):c.3409A>C (p.Thr1137Pro) rs1948336129
NM_001273.5(CHD4):c.4980A>G (p.Lys1660=) rs1948119039
NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter) rs2148493243
NM_001278716.2(FBXL4):c.1400_1401del (p.Asp466_Tyr467insTer) rs1238870745
NM_001282116.2(RFX3):c.1473del (p.Phe492fs)
NM_001282116.2(RFX3):c.1801T>C (p.Trp601Arg)
NM_001282531.3(ADNP):c.2182A>C (p.Lys728Gln)
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001282534.2(KCNK9):c.552G>A (p.Trp184Ter) rs2130105042
NM_001282680.3(GAPVD1):c.2561del (p.Pro854fs)
NM_001287491.2(TET3):c.2755G>A (p.Ala919Thr)
NM_001291415.2(KDM6A):c.3190dup (p.Trp1064fs)
NM_001303052.2(MYT1L):c.1029G>C (p.Glu343Asp)
NM_001303052.2(MYT1L):c.1181G>C (p.Arg394Thr)
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001303052.2(MYT1L):c.1718G>A (p.Gly573Glu) rs2051764612
NM_001303052.2(MYT1L):c.2188del (p.His730fs) rs2048967703
NM_001303052.2(MYT1L):c.2677C>T (p.Arg893Ter)
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001306215.2(ZNF827):c.590T>A (p.Leu197Ter)
NM_001306215.2(ZNF827):c.706C>T (p.Arg236Ter)
NM_001318510.2(ACSL4):c.449A>T (p.His150Leu) rs374685754
NM_001318852.2(MAPK8IP3):c.235G>A (p.Glu79Lys) rs2142248260
NM_001320.7(CSNK2B):c.72+1G>T
NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter) rs767384318
NM_001330078.2(NRXN1):c.1066del (p.Glu356fs)
NM_001330078.2(NRXN1):c.1832A>T (p.Asp611Val)
NM_001330078.2(NRXN1):c.3071-1G>C
NM_001330078.2(NRXN1):c.471dup (p.Leu158fs)
NM_001330195.2(NRXN3):c.1394C>T (p.Thr465Ile)
NM_001330195.2(NRXN3):c.4097dup (p.Ser1367fs)
NM_001330260.2(SCN8A):c.1258G>C (p.Ala420Pro) rs1592392873
NM_001330260.2(SCN8A):c.1483_1484insT (p.Arg495fs) rs2138750383
NM_001330260.2(SCN8A):c.2811G>T (p.Trp937Cys) rs1555225835
NM_001330260.2(SCN8A):c.4501C>T (p.Gln1501Ter) rs1057520149
NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr) rs1085307999
NM_001347721.2(DYRK1A):c.638-6T>C rs2148612226
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter) rs886041291
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg) rs1569380375
NM_001348323.3(TRIP12):c.2355T>G (p.Cys785Trp) rs2154275791
NM_001348323.3(TRIP12):c.3035A>C (p.Glu1012Ala)
NM_001348323.3(TRIP12):c.4642CTT[1] (p.Leu1550del)
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu) rs2032214426
NM_001348716.2(KDM6B):c.403C>T (p.Arg135Ter) rs957520585
NM_001348716.2(KDM6B):c.4348C>T (p.Pro1450Ser) rs2151379708
NM_001348716.2(KDM6B):c.4469-9G>A
NM_001348768.2(HECW2):c.1496A>G (p.Asp499Gly) rs370055977
NM_001348768.2(HECW2):c.4477C>T (p.Arg1493Ter) rs2105805603
NM_001348800.3(ZBTB20):c.-342-50205del
NM_001349338.3(FOXP1):c.1000G>C (p.Asp334His) rs1576028676
NM_001349338.3(FOXP1):c.1146+1G>A rs1559650552
NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) rs797044652
NM_001349338.3(FOXP1):c.1280C>T (p.Thr427Ile)
NM_001349338.3(FOXP1):c.1313G>A (p.Arg438Gln) rs2037908174
NM_001349338.3(FOXP1):c.1544A>G (p.His515Arg) rs2036511353
NM_001349338.3(FOXP1):c.1630C>T (p.Arg544Ter)
NM_001349338.3(FOXP1):c.1653-1G>A rs1575741313
NM_001350605.2(SRSF11):c.271G>C (p.Val91Leu)
NM_001352027.3(PHF21A):c.1493G>A (p.Ser498Asn)
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
NM_001356.5(DDX3X):c.1601_1611del (p.Arg534fs) rs2063928899
NM_001356.5(DDX3X):c.381G>A (p.Trp127Ter)
NM_001363066.2(CLDN5):c.164T>C (p.Val55Ala) rs1934172728
NM_001365999.1(SZT2):c.153+1G>A rs1649902998
NM_001366145.2(TRPM3):c.4685G>A (p.Cys1562Tyr)
NM_001367721.1(CASK):c.1994A>G (p.Lys665Arg)
NM_001367721.1(CASK):c.2317+5G>A rs2147095645
NM_001367721.1(CASK):c.497C>A (p.Ala166Asp)
NM_001367721.1(CASK):c.794_796delinsAG (p.Ile265fs)
NM_001367873.1(SOX6):c.17C>T (p.Ala6Val) rs2134341240
NM_001367943.1(TCF7L2):c.875+1G>C rs2069337693
NM_001368894.2(PAX6):c.400G>A (p.Val134Met)
NM_001370348.2(PHF3):c.1592A>G (p.Asn531Ser)
NM_001371928.1(AHDC1):c.1003G>A (p.Asp335Asn) rs1202158646
NM_001371928.1(AHDC1):c.1122del (p.Pro376fs)
NM_001371928.1(AHDC1):c.1289del (p.Pro430fs) rs1571240391
NM_001371928.1(AHDC1):c.1322C>T (p.Pro441Leu)
NM_001371928.1(AHDC1):c.1758dup (p.Arg587fs) rs1064797043
NM_001371928.1(AHDC1):c.808_811del (p.Glu270fs) rs2019544779
NM_001371986.1(UNC80):c.6337C>T (p.Arg2113Ter)
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs) rs2083275928
NM_001372044.2(SHANK3):c.4907dup (p.Tyr1636Ter)
NM_001372066.1(TFAP2A):c.1320del (p.Ter440TrpextTer?) rs1761873980
NM_001374353.1(GLI2):c.1905+1G>T rs1558937172
NM_001374828.1(ARID1B):c.1745C>A (p.Pro582Gln)
NM_001374828.1(ARID1B):c.2400del (p.Ser800fs) rs1583280152
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001374828.1(ARID1B):c.6227G>A (p.Arg2076His) rs1351633854
NM_001374828.1(ARID1B):c.6236C>G (p.Ser2079Ter) rs2128395778
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs) rs1794584714
NM_001375380.1(EBF3):c.146T>C (p.Leu49Pro)
NM_001375380.1(EBF3):c.1593_1605del (p.Ser532fs)
NM_001375380.1(EBF3):c.232C>T (p.Gln78Ter)
NM_001375524.1(TRRAP):c.1795G>A (p.Ala599Thr) rs2116408599
NM_001375524.1(TRRAP):c.4340G>A (p.Arg1447His) rs577116284
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys) rs1791432323
NM_001375584.1(SMG7):c.2403G>A (p.Trp801Ter) rs1669861438
NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly)
NM_001376.5(DYNC1H1):c.10195C>T (p.Gln3399Ter)
NM_001376.5(DYNC1H1):c.10637A>G (p.Asp3546Gly)
NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His) rs770451110
NM_001376.5(DYNC1H1):c.12653C>T (p.Thr4218Met)
NM_001376.5(DYNC1H1):c.2971A>G (p.Met991Val) rs1057518524
NM_001376.5(DYNC1H1):c.4396-1G>C
NM_001376.5(DYNC1H1):c.6512A>T (p.His2171Leu)
NM_001376.5(DYNC1H1):c.8574C>G (p.Phe2858Leu) rs778246294
NM_001376.5(DYNC1H1):c.9229G>C (p.Asp3077His) rs2048466928
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter) rs2105571544
NM_001378183.1(PIEZO2):c.382G>A (p.Gly128Arg)
NM_001378183.1(PIEZO2):c.3923+1G>T
NM_001378414.1(HDAC4):c.2011C>T (p.Gln671Ter) rs2038325962
NM_001378418.1(TCF20):c.2803C>T (p.Gln935Ter)
NM_001378418.1(TCF20):c.3424G>A (p.Gly1142Ser)
NM_001378418.1(TCF20):c.4847A>T (p.Tyr1616Phe) rs2147197672
NM_001378418.1(TCF20):c.5087_5088del (p.Glu1696fs) rs1920931611
NM_001378418.1(TCF20):c.5555T>G (p.Phe1852Cys)
NM_001379291.1(BRD4):c.1021C>T (p.His341Tyr) rs2145599609
NM_001379291.1(BRD4):c.2728dup (p.Gln910fs)
NM_001379291.1(BRD4):c.3312_3319del (p.Gln1105fs)
NM_001379403.1(WDR26):c.450G>A (p.Ala150=) rs543194934
NM_001379403.1(WDR26):c.823-10A>G rs1674395504
NM_001385012.1(NBEA):c.1035T>G (p.Tyr345Ter) rs779780049
NM_001385012.1(NBEA):c.1711C>G (p.Leu571Val)
NM_001385012.1(NBEA):c.2578G>T (p.Glu860Ter)
NM_001385012.1(NBEA):c.5206dup (p.Ser1736fs)
NM_001385012.1(NBEA):c.7271G>T (p.Ser2424Ile) rs2153043712
NM_001385012.1(NBEA):c.7543C>A (p.Leu2515Met) rs2153065630
NM_001386298.1(CIC):c.1975C>T (p.Arg659Cys)
NM_001386298.1(CIC):c.2131_2150delinsACGAT (p.Pro711_Glu717delinsThrMet)
NM_001386298.1(CIC):c.4981delinsCTTCCC (p.Thr1661fs)
NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu)
NM_001386298.1(CIC):c.7018A>C (p.Lys2340Gln)
NM_001388303.1(HECTD4):c.9724dup (p.Ala3242fs)
NM_001389617.1(NAV1):c.6015G>A (p.Trp2005Ter)
NM_001393499.1(BICRAL):c.579dup (p.Ile194fs)
NM_001393769.1(MED12L):c.1826A>G (p.His609Arg)
NM_001393769.1(MED12L):c.4900T>C (p.Tyr1634His)
NM_001393769.1(MED12L):c.4901A>G (p.Tyr1634Cys)
NM_001394372.1(BICRA):c.3556A>C (p.Thr1186Pro)
NM_001394998.1(TANC2):c.3073G>A (p.Gly1025Arg)
NM_001394998.1(TANC2):c.3866T>C (p.Val1289Ala)
NM_001394998.1(TANC2):c.4328G>A (p.Arg1443His)
NM_001394998.1(TANC2):c.5596T>G (p.Phe1866Val)
NM_001407.3(CELSR3):c.4399+1G>C
NM_001416.4(EIF4A1):c.931C>T (p.Arg311Ter)
NM_001429.4(EP300):c.2817+186_3262-187delinsTG
NM_001429.4(EP300):c.2893C>T (p.Gln965Ter)
NM_001673.5(ASNS):c.239A>G (p.Asn80Ser) rs1792113146
NM_001690.4(ATP6V1A):c.431G>A (p.Gly144Asp)
NM_001854.4(COL11A1):c.3304G>A (p.Gly1102Arg) rs1658599034
NM_001904.4(CTNNB1):c.133del (p.Ser45fs) rs2125617589
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.1768dup (p.Ile590fs) rs1575333081
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001958.5(EEF1A2):c.335C>T (p.Ala112Val)
NM_001970.5(EIF5A):c.325C>T (p.Arg109Ter) rs2143009613
NM_001999.4(FBN2):c.3848-1G>A rs1750805468
NM_002024.6(FMR1):c.608AAG[1] (p.Glu204del) rs2043543914
NM_002069.6(GNAI1):c.1A>G (p.Met1Val)
NM_002069.6(GNAI1):c.68_70del (p.Leu23del) rs1787388036
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002246.3(KCNK3):c.460G>A (p.Val154Met)
NM_002246.3(KCNK3):c.632A>G (p.Asp211Gly)
NM_002332.3(LRP1):c.9774C>G (p.His3258Gln) rs1565750061
NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)
NM_002430.3(MN1):c.2986G>C (p.Gly996Arg) rs1933323211
NM_002430.3(MN1):c.3900del (p.Trp1301fs) rs1932758693
NM_002547.2(OPHN1):c.313_326del
NM_002547.3(OPHN1):c.188C>G (p.Thr63Arg)
NM_002585.4(PBX1):c.265+2_265+5del rs773334722
NM_002585.4(PBX1):c.550C>T (p.Arg184Ter) rs1553248081
NM_002608.4(PDGFB):c.-318C>T
NM_002608.4(PDGFB):c.-373C>G
NM_002831.5(PTPN6):c.845_854delTTGACCACAG
NM_002831.6(PTPN6):c.1206+2T>G
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002911.4(UPF1):c.2138C>T (p.Ser713Phe) rs2145961561
NM_002971.6(SATB1):c.2194G>T (p.Val732Phe)
NM_003036.4(SKI):c.898C>T (p.Leu300Phe) rs1569660908
NM_003036.4(SKI):c.91T>G (p.Ser31Ala) rs1569656981
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003070.5(SMARCA2):c.3768G>T (p.Met1256Ile) rs370403102
NM_003070.5(SMARCA2):c.4045C>T (p.Arg1349Ter)
NM_003070.5(SMARCA2):c.67C>T (p.Pro23Ser)
NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly) rs886039520
NM_003073.5(SMARCB1):c.110G>T (p.Arg37Leu)
NM_003073.5(SMARCB1):c.214dup (p.Thr72fs)
NM_003073.5(SMARCB1):c.538G>C (p.Ala180Pro)
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_003074.4(SMARCC1):c.2236C>T (p.Arg746Ter)
NM_003106.4(SOX2):c.368A>G (p.Asp123Gly) rs1249553271
NM_003128.3(SPTBN1):c.328A>T (p.Ile110Phe)
NM_003128.3(SPTBN1):c.3909C>G (p.Tyr1303Ter) rs748501800
NM_003128.3(SPTBN1):c.5216G>A (p.Arg1739Gln) rs531979350
NM_003238.6(TGFB2):c.9del (p.Cys4fs)
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter) rs104894312
NM_003482.4(KMT2D):c.10741-23_10741-2del
NM_003482.4(KMT2D):c.15047T>C (p.Leu5016Pro)
NM_003482.4(KMT2D):c.16146C>G (p.His5382Gln)
NM_003482.4(KMT2D):c.16445T>A (p.Val5482Glu)
NM_003482.4(KMT2D):c.417C>G (p.His139Gln)
NM_003482.4(KMT2D):c.7199del (p.Pro2400fs)
NM_003482.4(KMT2D):c.9872_9882dup (p.Met3295fs) rs2120479652
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.248G>A (p.Arg83His) rs1603290366
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter) rs767240461
NM_003590.5(CUL3):c.827_828del (p.Ile276fs) rs1692821396
NM_003590.5(CUL3):c.883+3_883+6del
NM_003628.6(PKP4):c.1784G>A (p.Arg595Gln)
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003738.5(PTCH2):c.1083G>C (p.Gln361His) rs2148877935
NM_003793.4(CTSF):c.1048G>T (p.Gly350Trp) rs2134950758
NM_003797.5(EED):c.767T>C (p.Met256Thr)
NM_003900.5(SQSTM1):c.175dup (p.Arg59fs) rs1757757569
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004239.4(TRIP11):c.2395A>G (p.Ser799Gly)
NM_004380.3(CREBBP):c.5518G>T (p.Val1840Leu) rs2051853150
NM_004408.4(DNM1):c.1347C>A (p.Tyr449Ter) rs2131226916
NM_004493.3(HSD17B10):c.677G>A (p.Arg226Gln) rs1556894502
NM_004519.4(KCNQ3):c.1579T>C (p.Phe527Leu)
NM_004519.4(KCNQ3):c.2554C>A (p.Pro852Thr) rs2130922540
NM_004522.3(KIF5C):c.856C>T (p.Arg286Trp)
NM_004523.4(KIF11):c.487A>G (p.Ile163Val)
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) rs2051507892
NM_004586.3(RPS6KA3):c.307AAG[1] (p.Lys104del) rs2148721833
NM_004603.4(STX1A):c.435C>G (p.Cys145Trp) rs200456346
NM_004606.5(TAF1):c.2299C>T (p.Arg767Trp) rs2034289029
NM_004606.5(TAF1):c.4748A>G (p.Tyr1583Cys) rs2148612232
NM_004746.4(DLGAP1):c.733G>T (p.Glu245Ter)
NM_004859.4(CLTC):c.1873_1874del (p.Arg625fs) rs2032737696
NM_004859.4(CLTC):c.1912_1916delinsAGA (p.Ala639fs) rs2032738350
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004859.4(CLTC):c.4323+6G>A rs2143596658
NM_004883.3(NRG2):c.872+1G>A
NM_004958.4(MTOR):c.1111G>T (p.Asp371Tyr)
NM_004974.4(KCNA2):c.16G>A (p.Gly6Arg)
NM_004975.4(KCNB1):c.2008C>T (p.Arg670Ter) rs1984206797
NM_004985.5(KRAS):c.202_204del (p.Arg68del) rs1951405809
NM_005085.4(NUP214):c.6029_6030del (p.Lys2010fs)
NM_005120.3(MED12):c.1836_1842dup (p.Thr615fs)
NM_005121.3(MED13):c.2645T>C (p.Ile882Thr)
NM_005121.3(MED13):c.5112A>C (p.Arg1704Ser)
NM_005121.3(MED13):c.540T>G (p.Ile180Met)
NM_005157.6(ABL1):c.2170dup (p.His724fs)
NM_005157.6(ABL1):c.929C>T (p.Pro310Leu) rs1831276610
NM_005159.5(ACTC1):c.275_277del (p.Phe92del) rs730880388
NM_005215.4(DCC):c.1154T>A (p.Leu385Ter)
NM_005215.4(DCC):c.617A>T (p.Asp206Val)
NM_005249.5(FOXG1):c.407_458del (p.Glu136fs) rs1566445169
NM_005249.5(FOXG1):c.578C>T (p.Ala193Val)
NM_005249.5(FOXG1):c.677A>C (p.Gln226Pro)
NM_005257.6(GATA6):c.158_159delinsT (p.Gly53fs) rs2143274134
NM_005273.4(GNB2):c.284T>C (p.Leu95Pro)
NM_005321.3(H1-4):c.610G>C (p.Ala204Pro) rs139427516
NM_005334.3(HCFC1):c.5945G>A (p.Arg1982His) rs2065298309
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005392.4(PHF2):c.1923C>G (p.Asn641Lys)
NM_005392.4(PHF2):c.3142G>A (p.Val1048Ile)
NM_005445.4(SMC3):c.1121A>C (p.Asp374Ala) rs1861074510
NM_005458.8(GABBR2):c.2660+2T>G
NM_005560.6(LAMA5):c.5071G>T (p.Glu1691Ter)
NM_005612.5(REST):c.2809A>T (p.Lys937Ter)
NM_005618.4(DLL1):c.1574dup (p.Ala528fs) rs2114958269
NM_005629.4(SLC6A8):c.1142-2A>C rs1603217176
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.4(SLC6A8):c.130G>T (p.Gly44Cys) rs2091437228
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
NM_005859.5(PURA):c.534_556dup (p.Gln186fs) rs1763049807
NM_005898.5(CAPRIN1):c.1084C>T (p.Leu362Phe)
NM_005955.3(MTF1):c.1051C>T (p.Arg351Ter)
NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)
NM_006035.4(CDC42BPB):c.3304G>A (p.Val1102Ile)
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr) rs1595127294
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) rs121434226
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006164.5(NFE2L2):c.1033G>C (p.Gly345Arg) rs747179142
NM_006180.6(NTRK2):c.1816G>A (p.Glu606Lys)
NM_006180.6(NTRK2):c.370C>T (p.Arg124Ter) rs1229434307
NM_006180.6(NTRK2):c.479A>G (p.Lys160Arg)
NM_006180.6(NTRK2):c.91G>C (p.Ala31Pro)
NM_006186.4(NR4A2):c.1405del (p.Val469fs)
NM_006186.4(NR4A2):c.1566G>T (p.Lys522Asn)
NM_006236.3(POU3F3):c.1084C>A (p.Arg362Ser) rs2104341046
NM_006236.3(POU3F3):c.1303_1305del (p.Glu435del)
NM_006236.3(POU3F3):c.1480G>T (p.Gly494Trp) rs1288967379
NM_006236.3(POU3F3):c.196dup (p.Asp66fs)
NM_006236.3(POU3F3):c.209_213delinsC (p.Val70fs)
NM_006268.5(DPF2):c.8C>G (p.Ala3Gly)
NM_006421.5(ARFGEF1):c.398C>T (p.Thr133Ile)
NM_006445.4(PRPF8):c.1348C>G (p.Leu450Val)
NM_006445.4(PRPF8):c.5594G>C (p.Arg1865Thr) rs1911407117
NM_006445.4(PRPF8):c.6791C>T (p.Ser2264Leu) rs1911033774
NM_006445.4(PRPF8):c.6793G>C (p.Asp2265His) rs2151109279
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006579.3(EBP):c.337C>A (p.Leu113Met) rs2147156355
NM_006618.5(KDM5B):c.254C>T (p.Pro85Leu)
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)
NM_006618.5(KDM5B):c.563G>A (p.Gly188Glu)
NM_006662.3(SRCAP):c.3717G>A (p.Val1239=) rs2151293426
NM_006662.3(SRCAP):c.3734G>T (p.Gly1245Val)
NM_006734.4(HIVEP2):c.5693C>G (p.Ser1898Cys)
NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)
NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter) rs1821661078
NM_006766.5(KAT6A):c.5101C>T (p.Pro1701Ser) rs539376929
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)
NM_006772.3(SYNGAP1):c.1516C>T (p.Leu506Phe)
NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs) rs1554122252
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006852.6(TLK2):c.1286+5G>A
NM_006852.6(TLK2):c.944G>T (p.Gly315Val)
NM_006885.4(ZFHX3):c.2037C>G (p.His679Gln)
NM_006885.4(ZFHX3):c.320C>A (p.Pro107His) rs145239736
NM_006885.4(ZFHX3):c.7090C>G (p.Gln2364Glu)
NM_006908.5(RAC1):c.284C>T (p.Ala95Val) rs2115214243
NM_006922.4(SCN3A):c.5090A>G (p.Asn1697Ser) rs1685074140
NM_006924.5(SRSF1):c.70C>T (p.Pro24Ser)
NM_006939.4(SOS2):c.2308G>A (p.Glu770Lys) rs2139595006
NM_006940.6(SOX5):c.1628A>G (p.Tyr543Cys)
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) rs1591833159
NM_006940.6(SOX5):c.668A>G (p.Gln223Arg) rs2140999106
NM_006950.3(SYN1):c.820C>T (p.His274Tyr)
NM_007074.4(CORO1A):c.314_315del (p.Thr105fs) rs2151062416
NM_007118.4(TRIO):c.3166G>T (p.Val1056Leu) rs755777586
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.5711C>T (p.Pro1904Leu)
NM_007118.4(TRIO):c.7048C>A (p.Pro2350Thr)
NM_007118.4(TRIO):c.8750A>C (p.Lys2917Thr) rs2126720106
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) rs2045826576
NM_007327.4(GRIN1):c.1540G>C (p.Val514Leu)
NM_007327.4(GRIN1):c.1898G>T (p.Gly633Val)
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln) rs1588735834
NM_007347.5(AP4E1):c.150+593C>G
NM_012141.3(INTS6):c.976A>T (p.Lys326Ter)
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012199.5(AGO1):c.569T>C (p.Leu190Pro) rs1645264815
NM_012280.4(FTSJ1):c.367G>A (p.Gly123Ser)
NM_012309.5(SHANK2):c.3382G>C (p.Glu1128Gln)
NM_012330.4(KAT6B):c.3223G>T (p.Glu1075Ter)
NM_012330.4(KAT6B):c.5041G>A (p.Glu1681Lys) rs1564632292
NM_012428.4(NPTN):c.14C>A (p.Ser5Ter) rs1449689929
NM_013275.6(ANKRD11):c.1984del (p.Glu662fs)
NM_013275.6(ANKRD11):c.2022dup (p.Glu675fs)
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter) rs752918694
NM_013275.6(ANKRD11):c.417C>A (p.His139Gln) rs748683740
NM_013275.6(ANKRD11):c.5044G>T (p.Gly1682Cys)
NM_013275.6(ANKRD11):c.5491G>T (p.Asp1831Tyr)
NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter) rs1597435896
NM_014030.4(GIT1):c.1568dup (p.Gly524fs) rs2150826248
NM_014159.7(SETD2):c.170A>G (p.Lys57Arg)
NM_014159.7(SETD2):c.4464T>G (p.Asn1488Lys)
NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter)
NM_014159.7(SETD2):c.557C>G (p.Pro186Arg)
NM_014159.7(SETD2):c.6011A>G (p.Asp2004Gly)
NM_014159.7(SETD2):c.7004A>G (p.Gln2335Arg)
NM_014225.6(PPP2R1A):c.1694A>G (p.Glu565Gly)
NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys) rs864309720
NM_014271.4(IL1RAPL1):c.1372+5G>A rs2147258668
NM_014423.4(AFF4):c.2638-4_2638del
NM_014423.4(AFF4):c.758C>T (p.Pro253Leu)
NM_014489.4(PGAP2):c.112A>G (p.Ile38Val)
NM_014489.4(PGAP2):c.368C>T (p.Ser123Leu)
NM_014516.4(CNOT3):c.483+5G>A
NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)
NM_014704.4(CEP104):c.830A>T (p.Glu277Val)
NM_014712.3(SETD1A):c.2843G>A (p.Arg948Gln) rs149618545
NM_014712.3(SETD1A):c.2981_2982del (p.Val994fs)
NM_014712.3(SETD1A):c.4811A>C (p.Gln1604Pro)
NM_014712.3(SETD1A):c.706A>C (p.Thr236Pro) rs2143483723
NM_014727.3(KMT2B):c.428C>T (p.Ser143Phe)
NM_014742.4(TM9SF4):c.1411G>A (p.Gly471Ser)
NM_014892.5(SCAF8):c.3200_3204del (p.Ile1067fs)
NM_014989.7(RIMS1):c.1679-20550G>A
NM_014991.6(WDFY3):c.8984C>G (p.Ser2995Cys)
NM_015001.3(SPEN):c.2417_2418dup (p.Arg807fs) rs764595221
NM_015001.3(SPEN):c.2900_2909delinsT (p.Glu967_Ala970delinsVal) rs2148738435
NM_015001.3(SPEN):c.4345G>T (p.Glu1449Ter) rs2148739431
NM_015001.3(SPEN):c.4919C>T (p.Pro1640Leu)
NM_015001.3(SPEN):c.5780C>A (p.Pro1927Gln)
NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)
NM_015001.3(SPEN):c.9811A>G (p.Thr3271Ala)
NM_015015.3(KDM4B):c.496G>A (p.Gly166Ser)
NM_015021.3(ZNF292):c.6489_6490del (p.Glu2164fs)
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)
NM_015100.4(POGZ):c.460-2A>C rs2102303238
NM_015107.3(PHF8):c.1880del (p.Lys627fs) rs2065590491
NM_015151.4(DIP2A):c.1429+2T>G
NM_015151.4(DIP2A):c.4446C>G (p.His1482Gln)
NM_015151.4(DIP2A):c.850A>C (p.Lys284Gln)
NM_015215.4(CAMTA1):c.122A>G (p.His41Arg) rs1646960047
NM_015215.4(CAMTA1):c.1455dup (p.Asp486fs) rs2095982231
NM_015215.4(CAMTA1):c.234+62436_234+62440del
NM_015215.4(CAMTA1):c.4355G>T (p.Ser1452Ile) rs2096846819
NM_015215.4(CAMTA1):c.4487C>T (p.Ser1496Leu) rs2150108300
NM_015267.4(CUX2):c.2291C>T (p.Pro764Leu)
NM_015317.5(PUM2):c.349-2A>G
NM_015329.4(MAU2):c.744C>G (p.Ser248Arg)
NM_015335.5(MED13L):c.2345-3C>G rs1592939069
NM_015338.6(ASXL1):c.2071C>A (p.Leu691Ile)
NM_015338.6(ASXL1):c.3583dup (p.Gln1195fs) rs2011867276
NM_015355.4(SUZ12):c.814G>T (p.Glu272Ter) rs2142178714
NM_015443.4(KANSL1):c.1765G>A (p.Val589Met) rs1357621164
NM_015443.4(KANSL1):c.2981G>T (p.Ser994Ile) rs2146306637
NM_015559.3(SETBP1):c.1567C>T (p.His523Tyr) rs2071331956
NM_015559.3(SETBP1):c.1588C>T (p.Arg530Ter)
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015570.4(AUTS2):c.1960G>A (p.Val654Ile)
NM_015570.4(AUTS2):c.2309C>T (p.Thr770Ile)
NM_015570.4(AUTS2):c.2887G>C (p.Glu963Gln)
NM_015570.4(AUTS2):c.2915A>T (p.Glu972Val)
NM_015570.4(AUTS2):c.3062C>T (p.Ser1021Leu)
NM_015570.4(AUTS2):c.796_818del (p.Pro266fs)
NM_015570.4(AUTS2):c.940C>T (p.Gln314Ter)
NM_015570.4(AUTS2):c.983_984del (p.Thr328fs)
NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys)
NM_015981.4(CAMK2A):c.816G>A (p.Ser272=) rs2150279471
NM_016032.4(ZDHHC9):c.287G>A (p.Arg96Gln) rs1928083486
NM_016035.5(COQ4):c.230C>T (p.Thr77Ile)
NM_016284.5(CNOT1):c.1004_1005dup (p.Trp336fs) rs2151976617
NM_016284.5(CNOT1):c.6196delinsAA (p.Gln2066fs) rs2151901930
NM_016333.4(SRRM2):c.1310C>T (p.Ser437Phe) rs1317227596
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016580.4(PCDH12):c.643A>C (p.Thr215Pro) rs1389877870
NM_016604.4(KDM3B):c.3047-1G>A
NM_016604.4(KDM3B):c.3397_3398delinsAA (p.Ser1133Asn) rs2126987772
NM_016604.4(KDM3B):c.3871T>C (p.Ser1291Pro) rs2126994153
NM_016604.4(KDM3B):c.5009G>C (p.Gly1670Ala) rs1464939653
NM_016628.5(WAC):c.29_30del (p.Arg10fs) rs754451905
NM_016955.4(SEPSECS):c.114+3A>G
NM_017649.5(CNNM2):c.1111G>C (p.Val371Leu) rs1845549561
NM_017780.4(CHD7):c.1061C>T (p.Pro354Leu) rs2150579970
NM_017780.4(CHD7):c.2241G>C (p.Lys747Asn)
NM_017934.7(PHIP):c.1054T>C (p.Ser352Pro) rs2127742331
NM_017934.7(PHIP):c.3317G>A (p.Cys1106Tyr) rs2127701393
NM_017934.7(PHIP):c.589C>T (p.Arg197Trp)
NM_018086.4(FIGN):c.861del (p.Thr288fs) rs2105298764
NM_018149.7(SMG8):c.2435T>G (p.Leu812Ter)
NM_018149.7(SMG8):c.971dup (p.Asn324fs)
NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)
NM_018263.6(ASXL2):c.607A>C (p.Ser203Arg)
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys) rs762276611
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp)
NM_018486.3(HDAC8):c.562G>A (p.Ala188Thr) rs1603069440
NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp) rs1603060007
NM_018489.3(ASH1L):c.4400C>G (p.Pro1467Arg)
NM_018489.3(ASH1L):c.6218G>A (p.Arg2073His)
NM_018489.3(ASH1L):c.731C>T (p.Thr244Ile)
NM_018489.3(ASH1L):c.7622C>T (p.Ala2541Val)
NM_018489.3(ASH1L):c.8771T>C (p.Leu2924Pro)
NM_018896.5(CACNA1G):c.1501_1512del (p.His501_His504del) rs2144887301
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr) rs886041505
NM_018896.5(CACNA1G):c.6086C>T (p.Pro2029Leu) rs2052945610
NM_019023.5(PRMT7):c.148C>T (p.Gln50Ter) rs2082897416
NM_019040.5(ELP4):c.1144-19903_1144-19902del
NM_019066.5(MAGEL2):c.2036del (p.Thr679fs)
NM_019066.5(MAGEL2):c.224del (p.Pro75fs) rs2140719261
NM_019066.5(MAGEL2):c.843TCCAGG[1] (p.282PG[1])
NM_019108.4(SMG9):c.1177C>T (p.Gln393Ter) rs1968559161
NM_019842.4(KCNQ5):c.1291A>T (p.Arg431Trp) rs1776322078
NM_020066.5(FMN2):c.3825G>T (p.Gly1275=) rs901699283
NM_020134.4(DPYSL5):c.600+2C>T
NM_020180.4(CELF4):c.792C>A (p.Tyr264Ter)
NM_020336.4(RALGAPB):c.2740C>T (p.Pro914Ser)
NM_020338.4(ZMIZ1):c.1876_1908del (p.Ala626_Pro636del)
NM_020338.4(ZMIZ1):c.2131C>T (p.Arg711Trp)
NM_020338.4(ZMIZ1):c.253C>T (p.Arg85Ter) rs1039220588
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_020699.4(GATAD2B):c.1433G>A (p.Arg478Gln)
NM_020706.2(SCAF4):c.790del (p.Arg264fs) rs2123557653
NM_020765.3(UBR4):c.10498C>T (p.Gln3500Ter)
NM_020774.4(MIB1):c.2212-3C>G
NM_020791.4(TAOK1):c.1823del (p.Arg608fs) rs2153030392
NM_020822.3(KCNT1):c.452A>G (p.Gln151Arg) rs1831337271
NM_020928.2(ZSWIM6):c.2569G>A (p.Glu857Lys) rs1749677033
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_021008.4(DEAF1):c.838A>G (p.Thr280Ala)
NM_021120.4(DLG3):c.1819+1del
NM_021224.6(ZNF462):c.2748_2749insT (p.Asn917Ter)
NM_021956.5(GRIK2):c.215C>A (p.Pro72His)
NM_021964.3(ZNF148):c.1994C>G (p.Ser665Cys)
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022552.5(DNMT3A):c.1280A>T (p.Glu427Val)
NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)
NM_022720.7(DGCR8):c.2060_2061del (p.His687fs)
NM_022786.3(ARV1):c.175-3_175-2inv
NM_022817.3(PER2):c.2399A>G (p.Lys800Arg)
NM_022817.3(PER2):c.958G>C (p.Gly320Arg)
NM_022835.3(PLEKHG2):c.3257A>G (p.Asp1086Gly) rs775055611
NM_022893.4(BCL11A):c.1474G>A (p.Glu492Lys)
NM_022893.4(BCL11A):c.431A>G (p.His144Arg) rs1449675152
NM_024496.4(IRF2BPL):c.1846del (p.Ala616fs)
NM_024496.4(IRF2BPL):c.462CGC[5] (p.Ala161_Ala164del) rs371633333
NM_024496.4(IRF2BPL):c.731del (p.Gly244fs) rs1356336393
NM_024570.4(RNASEH2B):c.845C>T (p.Ala282Val)
NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter) rs137852718
NM_024757.5(EHMT1):c.3462-1G>A rs1955068468
NM_024835.5(GGNBP2):c.769C>T (p.Arg257Ter) rs2142766936
NM_025176.6(NINL):c.2086C>T (p.Gln696Ter)
NM_025176.6(NINL):c.2344G>T (p.Glu782Ter)
NM_030632.3(ASXL3):c.1628_1629del (p.Leu543fs)
NM_030632.3(ASXL3):c.3230C>G (p.Ala1077Gly) rs2067692361
NM_030632.3(ASXL3):c.3737C>A (p.Ser1246Ter)
NM_030632.3(ASXL3):c.4409del (p.Pro1470fs)
NM_030632.3(ASXL3):c.5221T>G (p.Ser1741Ala)
NM_030632.3(ASXL3):c.6395A>C (p.Lys2132Thr)
NM_030665.4(RAI1):c.176A>G (p.Tyr59Cys) rs1240460489
NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)
NM_030665.4(RAI1):c.4810C>T (p.Arg1604Ter)
NM_030948.6(PHACTR1):c.1000G>T (p.Val334Phe) rs1770051610
NM_031206.7(LAS1L):c.949G>A (p.Glu317Lys)
NM_031407.7(HUWE1):c.4183T>C (p.Ser1395Pro) rs2064095549
NM_031407.7(HUWE1):c.504+5G>A
NM_031407.7(HUWE1):c.572A>G (p.Tyr191Cys) rs2066941837
NM_031466.8(TRAPPC9):c.-68C>T
NM_031844.3(HNRNPU):c.1357T>G (p.Cys453Gly)
NM_031844.3(HNRNPU):c.490C>T (p.Gln164Ter)
NM_032482.3(DOT1L):c.1792C>T (p.Gln598Ter)
NM_032531.4(KIRREL3):c.2302C>T (p.Arg768Ter) rs368469108
NM_032538.3(TTBK1):c.735+1G>T rs1777362229
NM_032634.4(PIGO):c.2825A>C (p.Asn942Thr) rs1829367042
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_052867.4(NALCN):c.19A>T (p.Ser7Cys)
NM_052867.4(NALCN):c.3959C>T (p.Thr1320Met)
NM_057175.5(NAA15):c.1021del (p.Ile341fs)
NM_057175.5(NAA15):c.1051dup (p.Thr351fs) rs2110941246
NM_057175.5(NAA15):c.231dup (p.Lys78fs) rs757423402
NM_057175.5(NAA15):c.692-5A>G
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter) rs1563819620
NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs) rs1816304706
NM_078629.4(MSL3):c.1171+1G>A rs2053176048
NM_130797.4(DPP6):c.1547+4A>G rs892160951
NM_130839.5(UBE3A):c.1864A>G (p.Asn622Asp) rs2077275624
NM_130839.5(UBE3A):c.2396A>C (p.Lys799Thr) rs201004098
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_133433.4(NIPBL):c.-457_-456delinsAT rs2149510283
NM_133433.4(NIPBL):c.-467C>T rs1251456909
NM_133433.4(NIPBL):c.5862+3487C>T rs2149710327
NM_133433.4(NIPBL):c.869-640G>C rs2149626924
NM_138459.5(NUS1):c.328C>T (p.Gln110Ter)
NM_138576.4(BCL11B):c.784_820del (p.Arg262fs)
NM_138927.4(SON):c.4198_4201del (p.Pro1400fs) rs2145832543
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.4(SON):c.5939C>T (p.Thr1980Ile) rs1393509538
NM_145204.4(SENP8):c.606G>A (p.Trp202Ter) rs2081368424
NM_145716.4(SSBP3):c.729dup (p.Gly244fs)
NM_152641.4(ARID2):c.1630G>C (p.Glu544Gln) rs1943489555
NM_152641.4(ARID2):c.2575T>C (p.Ser859Pro) rs2138164349
NM_152641.4(ARID2):c.4693G>A (p.Val1565Ile)
NM_152906.7(TANGO2):c.569_592del (p.Ile190_Leu197del) rs2048401628
NM_153252.5(BRWD3):c.3893T>A (p.Leu1298Ter) rs750080794
NM_153252.5(BRWD3):c.439dup (p.Thr147fs)
NM_153252.5(BRWD3):c.4510G>A (p.Glu1504Lys)
NM_170606.3(KMT2C):c.11670+1G>C
NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu)
NM_170606.3(KMT2C):c.14707G>T (p.Ala4903Ser)
NM_170606.3(KMT2C):c.4337G>A (p.Gly1446Glu)
NM_170606.3(KMT2C):c.5716C>T (p.Arg1906Ter)
NM_170606.3(KMT2C):c.6902A>C (p.Gln2301Pro)
NM_170606.3(KMT2C):c.817G>A (p.Val273Met)
NM_170606.3(KMT2C):c.8649del (p.Arg2884fs) rs2093231242
NM_170675.5(MEIS2):c.751C>T (p.Gln251Ter) rs2141917789
NM_170744.5(UNC5B):c.701G>A (p.Arg234His)
NM_171998.4(RAB39B):c.559del (p.Glu187fs) rs2124126312
NM_172107.4(KCNQ2):c.112G>C (p.Gly38Arg)
NM_172107.4(KCNQ2):c.1189C>T (p.Leu397Phe)
NM_172107.4(KCNQ2):c.1603G>A (p.Gly535Ser)
NM_172362.3(KCNH1):c.2138T>A (p.Val713Glu)
NM_172362.3(KCNH1):c.854A>C (p.Lys285Thr) rs1348802993
NM_173495.3(PTCHD1):c.1292T>C (p.Ile431Thr) rs2146652048
NM_173602.3(DIP2B):c.3893T>G (p.Phe1298Cys)
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp) rs2018124491
NM_181303.2(NLGN3):c.2389C>T (p.Arg797Trp)
NM_181332.3(NLGN4X):c.542C>T (p.Thr181Ile)
NM_182641.4(BPTF):c.3474C>A (p.Asn1158Lys) rs2062639532
NM_182931.3(KMT2E):c.1378G>T (p.Ala460Ser)
NM_182931.3(KMT2E):c.3476T>C (p.Leu1159Pro)
NM_182961.4(SYNE1):c.22042C>G (p.Gln7348Glu) rs2079430530
NM_197968.4(ZMYM2):c.1943C>G (p.Ser648Ter)
NM_197968.4(ZMYM2):c.2528_2529del (p.Lys843fs) rs2140727029
NM_198880.3(QRICH1):c.728A>C (p.Gln243Pro)
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu) rs2061701575
NM_205768.3(ZBTB18):c.1373A>G (p.Tyr458Cys) rs1698436913
NM_207037.2(TCF12):c.579+2T>C rs2151744236

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