NM_005105.5(RBM8A):c.*6C>G
|
rs12079762
|
0.04454
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00010
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_000359.3(TGM1):c.420A>G (p.Ile140Met)
|
rs139208806
|
0.00008
|
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg)
|
rs137852618
|
0.00006
|
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp)
|
rs149988492
|
0.00006
|
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
|
rs397516347
|
0.00004
|
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter)
|
rs754502950
|
0.00003
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)
|
rs200053119
|
0.00003
|
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)
|
rs368482584
|
0.00002
|
NM_000065.5(C6):c.928-1G>C
|
rs1432520854
|
0.00001
|
NM_000071.3(CBS):c.828+1G>A
|
rs763290176
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)
|
rs1135401736
|
0.00001
|
NM_001101.5(ACTB):c.94C>T (p.Pro32Ser)
|
rs779839358
|
0.00001
|
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)
|
rs760126773
|
0.00001
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)
|
rs128621194
|
|
NM_000089.4(COL1A2):c.432+2T>A
|
rs2115876295
|
|
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)
|
rs587779498
|
|
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter)
|
rs1588621711
|
|
NM_000135.4(FANCA):c.189+1G>A
|
rs891323617
|
|
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg)
|
rs2141306513
|
|
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)
|
rs1555399372
|
|
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly)
|
rs1131691317
|
|
NM_000138.5(FBN1):c.3337+1dup
|
rs1566909762
|
|
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)
|
rs397515791
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter)
|
rs71467648
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys)
|
|
|
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
|
|
|
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val)
|
rs2043018196
|
|
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
|
|
|
NM_000206.3(IL2RG):c.374A>G (p.Tyr125Cys)
|
rs2092261313
|
|
NM_000206.3(IL2RG):c.74del (p.Thr25fs)
|
rs2147751859
|
|
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)
|
rs139794067
|
|
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys)
|
rs137852294
|
|
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)
|
rs727503499
|
|
NM_000368.5(TSC1):c.1033del (p.Thr345fs)
|
rs1564488264
|
|
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=)
|
rs863223491
|
|
NM_000531.6(OTC):c.833_864delinsCC (p.Leu278_Met288delinsPro)
|
|
|
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=)
|
rs193922787
|
|
NM_000548.5(TSC2):c.225+1G>A
|
rs1567387207
|
|
NM_000548.5(TSC2):c.2318dup (p.Leu773fs)
|
rs1596350476
|
|
NM_000548.5(TSC2):c.2356-4_2356-3delinsAG
|
|
|
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)
|
rs45471896
|
|
NM_000969.5(RPL5):c.122_144del (p.Lys41fs)
|
rs2100676969
|
|
NM_001005242.3(PKP2):c.155dup (p.Ser53fs)
|
rs958681660
|
|
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)
|
rs121917751
|
|
NM_001061.7(TBXAS1):c.580_581del (p.Ala194fs)
|
rs760698812
|
|
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer)
|
rs1600404795
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met)
|
rs374686479
|
|
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu)
|
rs1060502176
|
|
NM_001270508.2(TNFAIP3):c.1096G>T (p.Glu366Ter)
|
|
|
NM_001277115.2(DNAH11):c.13523_13524insCTGGAGTGGCTCTGCTTCTAG (p.Ala4508_Gly4509insTrpSerGlySerAlaSerSer)
|
|
|
NM_001277115.2(DNAH11):c.13523_13543dup (p.Ala4508_Leu4514dup)
|
rs1784814248
|
|
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)
|
rs780546933
|
|
NM_001290043.2(TAP2):c.217_218del (p.Thr73fs)
|
rs1321880935
|
|
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs)
|
rs1569219331
|
|
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs)
|
rs1561254290
|
|
NM_001737.5(C9):c.1039_1042del (p.Ser347fs)
|
rs1027370764
|
|
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly)
|
rs1750918931
|
|
NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys)
|
rs138303817
|
|
NM_002582.4(PARN):c.758_759del (p.Glu253fs)
|
rs2151787383
|
|
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)
|
rs397507531
|
|
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg)
|
rs886039607
|
|
NM_003239.5(TGFB3):c.927-1G>C
|
rs767548724
|
|
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr)
|
rs1943100257
|
|
NM_003482.4(KMT2D):c.15341A>C (p.His5114Pro)
|
rs1565759674
|
|
NM_003587.5(DHX16):c.2033A>G (p.Glu678Gly)
|
|
|
NM_003924.4(PHOX2B):c.745_746insGGCGGCCGCGGC (p.Ala249delinsGlyArgProArgPro)
|
|
|
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)
|
rs727502904
|
|
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)
|
rs761796175
|
|
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)
|
rs1553657429
|
|
NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg)
|
rs730881044
|
|
NM_006073.4(TRDN):c.1051+1G>A
|
rs535908547
|
|
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs)
|
rs1568577135
|
|
NM_017827.4(SARS2):c.603A>G (p.Gln201=)
|
|
|
NM_032415.7(CARD11):c.377G>A (p.Gly126Asp)
|
rs1423056320
|
|
NM_145239.3(PRRT2):c.304del (p.Glu102fs)
|
rs1567379016
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_177438.3(DICER1):c.3093+1G>A
|
|
|