NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser)
|
rs138070797
|
0.00234
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)
|
rs61753094
|
0.00152
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)
|
rs142872154
|
0.00097
|
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)
|
rs199768740
|
0.00087
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr)
|
rs145369252
|
0.00068
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)
|
rs142907547
|
0.00035
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile)
|
rs200523155
|
0.00015
|
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)
|
rs372430349
|
0.00011
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp)
|
rs747833963
|
0.00009
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_001018115.3(FANCD2):c.2605+1G>A
|
rs142365855
|
0.00003
|
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)
|
rs80338864
|
0.00003
|
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile)
|
rs760824351
|
0.00003
|
NM_003235.5(TG):c.2359C>T (p.Arg787Ter)
|
rs752966476
|
0.00002
|
NM_000540.3(RYR1):c.9472+9G>A
|
rs1392237616
|
0.00001
|
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys)
|
rs199634446
|
0.00001
|
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)
|
rs186882839
|
0.00001
|
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)
|
rs375656231
|
0.00001
|
NM_003482.4(KMT2D):c.14923C>T (p.Arg4975Cys)
|
rs781012274
|
0.00001
|
NM_004525.3(LRP2):c.3667+1G>A
|
rs752197557
|
0.00001
|
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)
|
rs876660634
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)
|
rs778119481
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs)
|
rs1641706044
|
|
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)
|
rs1553154130
|
|
NM_001083962.2(TCF4):c.1486+1G>T
|
rs2048816852
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)
|
rs1202301143
|
|
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His)
|
rs1382225004
|
|
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)
|
rs794727136
|
|
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp)
|
rs1555038090
|
|
NM_001267550.2(TTN):c.66968del (p.Asn22323fs)
|
rs2154176360
|
|
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)
|
rs1064795387
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)
|
rs886044289
|
|
NM_001383.6(DPH1):c.749+39G>A
|
|
|
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)
|
rs953108559
|
|
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)
|
rs104894537
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_003482.4(KMT2D):c.1967del (p.Leu656fs)
|
rs772870804
|
|
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)
|
rs1554333853
|
|
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys)
|
rs1560466246
|
|
NM_005120.3(MED12):c.5625del (p.Gly1876fs)
|
|
|
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)
|
rs1057517843
|
|
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs)
|
rs2124740134
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs)
|
|
|
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
|
rs1057523157
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018116.4(MSTO1):c.1259del (p.Gly420fs)
|
rs1248439783
|
|
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)
|
rs786204492
|
|
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
|
rs587777695
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter)
|
rs768335581
|
|
Single allele
|
|
|