NM_017848.6(FAM120C):c.2427+5G>T
|
rs2495797
|
0.99864
|
NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu)
|
rs28522910
|
0.69466
|
NM_006744.4(RBP4):c.355+123T>G
|
rs36014035
|
0.39641
|
NM_000251.3(MSH2):c.2006-6T>C
|
rs2303428
|
0.08349
|
NM_000260.4(MYO7A):c.468C>T (p.Ile156=)
|
rs12420129
|
0.03116
|
NM_000271.5(NPC1):c.1947+17T>G
|
rs879174633
|
0.02464
|
NM_182480.3(COQ6):c.41G>A (p.Trp14Ter)
|
rs17094161
|
0.01687
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
NM_182977.3(NNT):c.1098+17T>C
|
rs16873430
|
0.01000
|
NM_001379029.1(CERT1):c.-168C>G
|
rs5744540
|
0.00961
|
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr)
|
rs138421850
|
0.00928
|
NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys)
|
rs35302908
|
0.00884
|
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg)
|
rs2276973
|
0.00877
|
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)
|
rs2229558
|
0.00834
|
NM_176811.2(NLRP8):c.142G>A (p.Val48Met)
|
rs61738689
|
0.00793
|
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)
|
rs77351975
|
0.00719
|
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg)
|
rs139415849
|
0.00597
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu)
|
rs149910292
|
0.00372
|
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile)
|
rs76675748
|
0.00361
|
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg)
|
rs144922627
|
0.00332
|
NM_005243.4(EWSR1):c.582-9C>G
|
rs189387468
|
0.00302
|
NM_002427.4(MMP13):c.799+7C>T
|
rs72987505
|
0.00298
|
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)
|
rs76440173
|
0.00267
|
NM_004456.5(EZH2):c.484+13C>T
|
rs140616632
|
0.00261
|
NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val)
|
rs201715229
|
0.00258
|
NM_173728.4(ARHGEF15):c.1250G>T (p.Arg417Leu)
|
rs142119277
|
0.00258
|
NM_001256545.2(MEGF10):c.218+17C>G
|
rs72786483
|
0.00257
|
NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg)
|
rs144778786
|
0.00252
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu)
|
rs77513082
|
0.00232
|
NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr)
|
rs189960510
|
0.00215
|
NM_002047.4(GARS1):c.1031+14T>G
|
rs189589556
|
0.00213
|
NM_014946.4(SPAST):c.1493+18G>T
|
rs189961829
|
0.00213
|
NM_005051.3(QARS1):c.117+17C>T
|
rs202012811
|
0.00167
|
NM_006208.3(ENPP1):c.313+11_313+15del
|
rs771304080
|
0.00163
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NM_001845.6(COL4A1):c.904-9C>T
|
rs201481886
|
0.00116
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val)
|
rs188762916
|
0.00109
|
NM_004217.4(AURKB):c.634G>C (p.Gly212Arg)
|
rs149651741
|
0.00096
|
NM_005529.7(HSPG2):c.958+14G>A
|
rs200930800
|
0.00092
|
NM_015072.5(TTLL5):c.1226G>A (p.Arg409Gln)
|
rs142465256
|
0.00090
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val)
|
rs149707354
|
0.00056
|
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg)
|
rs146395020
|
0.00054
|
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)
|
rs141551053
|
0.00043
|
NM_003482.4(KMT2D):c.14643+12G>A
|
rs186670730
|
0.00042
|
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe)
|
rs200732690
|
0.00041
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_014491.4(FOXP2):c.1266+8C>T
|
rs139649711
|
0.00030
|
NM_017780.4(CHD7):c.2831G>A (p.Arg944His)
|
rs117506164
|
0.00030
|
NM_003070.5(SMARCA2):c.4595-7G>C
|
rs199897032
|
0.00029
|
NM_007294.4(BRCA1):c.548-17G>T
|
rs80358014
|
0.00028
|
NM_014159.7(SETD2):c.4918-20G>C
|
rs375933330
|
0.00028
|
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)
|
rs370633684
|
0.00026
|
NM_002472.3(MYH8):c.3320del (p.Leu1107fs)
|
rs751871946
|
0.00024
|
NM_181303.2(NLGN3):c.913+11C>G
|
rs202038845
|
0.00018
|
NM_002024.6(FMR1):c.818A>G (p.Lys273Arg)
|
rs139029212
|
0.00015
|
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His)
|
rs200410163
|
0.00015
|
NM_003705.5(SLC25A12):c.1171+17C>G
|
rs370591049
|
0.00014
|
NM_173076.3(ABCA12):c.1376G>C (p.Ser459Thr)
|
rs113112835
|
0.00014
|
NM_001267550.2(TTN):c.97193-16T>G
|
rs371317486
|
0.00011
|
NM_002834.5(PTPN11):c.1224+15G>A
|
rs373271861
|
0.00011
|
NM_001042492.3(NF1):c.7322-14C>T
|
rs377244887
|
0.00009
|
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val)
|
rs72657933
|
0.00009
|
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg)
|
rs367835995
|
0.00006
|
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)
|
rs369346315
|
0.00006
|
NM_006516.4(SLC2A1):c.19-5C>T
|
rs376653618
|
0.00006
|
NM_024120.5(NDUFAF5):c.222+8C>G
|
rs113659919
|
0.00006
|
NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr)
|
rs776039915
|
0.00005
|
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val)
|
rs775411387
|
0.00005
|
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met)
|
rs558586992
|
0.00005
|
NM_000465.4(BARD1):c.1678-18C>G
|
rs376045331
|
0.00004
|
NM_078480.3(PUF60):c.297+9C>T
|
rs1028726810
|
0.00004
|
NM_182914.3(SYNE2):c.10432-17T>G
|
rs376299946
|
0.00004
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
NM_001015877.2(PHF6):c.240+10T>C
|
rs750243844
|
0.00001
|
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val)
|
rs745906742
|
0.00001
|
NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg)
|
rs536180346
|
0.00001
|
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
|
|
|
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln)
|
rs61749896
|
|
NM_000186.4(CFH):c.1336+2322TTCT[2]
|
rs151137602
|
|
NM_000474.4(TWIST1):c.256_276del (p.Gly86_Gly92del)
|
rs544465774
|
|
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)
|
rs398123566
|
|
NM_001111125.3(IQSEC2):c.3229C>A (p.Arg1077Ser)
|
rs782569979
|
|
NM_001370100.5(ZMYND11):c.1342_1344del (p.Pro448del)
|
rs1250648883
|
|
NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del)
|
rs748138546
|
|
NM_001754.5(RUNX1):c.1277_1278insCCCCCCCCCCC (p.Arg427fs)
|
rs2056451263
|
|
NM_001845.6(COL4A1):c.2083C>G (p.Pro695Ala)
|
rs1878244032
|
|
NM_003690.5(PRKRA):c.66-4_66-3insTCCCAGAGCAGGCACCGCCGAGGCCCTGCCGCTGGAGCGCGAGGACAGTGGGACCTT
|
rs1553599483
|
|
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile)
|
rs141979823
|
|
NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup)
|
rs193922928
|
|
NM_014795.4(ZEB2):c.593-18_593-17insTG
|
rs776927209
|
|
NM_015158.5(KANK1):c.3554-9_3554-5del
|
rs58169581
|
|
NM_016032.4(ZDHHC9):c.354G>C (p.Gln118His)
|
rs1927947896
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup)
|
rs531550505
|
|
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs)
|
rs757435621
|
|
NM_182977.3(NNT):c.80G>A (p.Arg27His)
|
rs34241095
|
|
NM_201400.4(EEF2KMT):c.*1074C>T
|
rs1957081691
|
|
NM_206809.4(MOG):c.88+18dup
|
rs749231725
|
|