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
|
|