|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
|
NM_000552.5(VWF):c.974G>T (p.Cys325Phe)
|
rs11837584
|
0.00111
|
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
|
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp)
|
rs148910227
|
0.00072
|
|
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)
|
rs145360423
|
0.00054
|
|
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser)
|
rs145351589
|
0.00046
|
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
|
NM_001364905.1(LRBA):c.3499A>G (p.Thr1167Ala)
|
rs146297781
|
0.00026
|
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
|
NM_000433.4(NCF2):c.*97A>C
|
rs367946786
|
0.00015
|
|
NM_021922.3(FANCE):c.-100C>T
|
rs374493565
|
0.00013
|
|
NM_003200.5(TCF3):c.1555A>G (p.Lys519Glu)
|
rs199682849
|
0.00011
|
|
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val)
|
rs137960099
|
0.00010
|
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
|
NM_001001548.3(CD36):c.875G>T (p.Arg292Ile)
|
rs200757788
|
0.00009
|
|
NM_006118.4(HAX1):c.*47A>G
|
rs183456651
|
0.00009
|
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
|
NM_019616.4(F7):c.845C>T (p.Ala282Val)
|
rs121964931
|
0.00006
|
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
|
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)
|
rs121909547
|
0.00005
|
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
|
NM_032444.4(SLX4):c.*98A>G
|
rs551538592
|
0.00005
|
|
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu)
|
rs745595833
|
0.00004
|
|
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter)
|
rs144718007
|
0.00004
|
|
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)
|
rs567155861
|
0.00004
|
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
|
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter)
|
rs538274657
|
0.00003
|
|
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg)
|
rs41328049
|
0.00003
|
|
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter)
|
rs373463881
|
0.00003
|
|
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln)
|
rs281875211
|
0.00003
|
|
NM_000128.4(F11):c.682C>T (p.Arg228Ter)
|
rs752907087
|
0.00002
|
|
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys)
|
rs387906674
|
0.00002
|
|
NM_000342.4(SLC4A1):c.2002G>A (p.Ala668Thr)
|
rs368353943
|
0.00002
|
|
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
|
rs748949603
|
0.00002
|
|
NM_006846.4(SPINK5):c.1302+4A>T
|
rs201269335
|
0.00002
|
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
|
NM_080669.6(SLC46A1):c.1214C>T (p.Thr405Met)
|
rs541069777
|
0.00002
|
|
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met)
|
rs753703762
|
0.00002
|
|
NM_203447.4(DOCK8):c.5620G>A (p.Glu1874Lys)
|
rs779199376
|
0.00002
|
|
NM_000132.4(F8):c.1063C>T (p.Arg355Ter)
|
rs137852368
|
0.00001
|
|
NM_000132.4(F8):c.1569G>T (p.Leu523=)
|
rs782733685
|
0.00001
|
|
NM_000132.4(F8):c.2167G>A (p.Ala723Thr)
|
rs137852436
|
0.00001
|
|
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
|
rs182657062
|
0.00001
|
|
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys)
|
rs137852609
|
0.00001
|
|
NM_000212.3(ITGB3):c.777+1G>A
|
rs745766760
|
0.00001
|
|
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser)
|
rs776594413
|
0.00001
|
|
NM_000298.6(PKLR):c.1217G>A (p.Gly406Glu)
|
rs779817999
|
0.00001
|
|
NM_000375.3(UROS):c.7G>T (p.Val3Phe)
|
rs773301339
|
0.00001
|
|
NM_000504.4(F10):c.400G>A (p.Gly134Arg)
|
rs368225671
|
0.00001
|
|
NM_000518.5(HBB):c.25_26del (p.Lys9fs)
|
rs35497102
|
0.00001
|
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
|
NM_001012339.3(DNAJC21):c.410T>C (p.Phe137Ser)
|
rs752188838
|
0.00001
|
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
|
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)
|
rs80338827
|
0.00001
|
|
NM_003200.5(TCF3):c.1636C>T (p.Arg546Trp)
|
rs747799051
|
0.00001
|
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
|
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)
|
rs782269909
|
0.00001
|
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
|
NM_032383.5(HPS3):c.2589+2T>C
|
rs1411572278
|
0.00001
|
|
NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys)
|
rs769950582
|
0.00001
|
|
NM_032492.4(JAGN1):c.56A>G (p.His19Arg)
|
rs748123071
|
0.00001
|
|
NM_138387.4(G6PC3):c.210del (p.Phe71fs)
|
rs769441127
|
0.00001
|
|
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln)
|
rs113994137
|
0.00001
|
|
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr)
|
rs121909591
|
0.00001
|
|
NM_000037.4(ANK1):c.1405-9G>A
|
|
|
|
NM_000037.4(ANK1):c.181del (p.Val61fs)
|
|
|
|
NM_000037.4(ANK1):c.2283del (p.Asn761fs)
|
|
|
|
NM_000037.4(ANK1):c.2389-8C>A
|
|
|
|
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter)
|
rs2150593157
|
|
|
NM_000037.4(ANK1):c.5108G>A (p.Trp1703Ter)
|
rs2150556792
|
|
|
NM_000057.4(BLM):c.99-8_112del
|
rs2151146678
|
|
|
NM_000061.3(BTK):c.372G>T (p.Trp124Cys)
|
|
|
|
NM_000061.3(BTK):c.839+1G>C
|
rs1569292649
|
|
|
NM_000061.3(BTK):c.83G>A (p.Arg28His)
|
rs128620185
|
|
|
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)
|
rs128621194
|
|
|
NM_000061.3(BTK):c.867T>A (p.Ser289Arg)
|
rs1926588297
|
|
|
NM_000074.3(CD40LG):c.158_161del
|
|
|
|
NM_000074.3(CD40LG):c.634del (p.His212fs)
|
|
|
|
NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)
|
|
|
|
NM_000081.4(LYST):c.7460+3_7460+6del
|
|
|
|
NM_000129.4(F13A1):c.460_461insGC (p.Ile154fs)
|
rs2113123881
|
|
|
NM_000129.4(F13A1):c.707T>G (p.Leu236Arg)
|
|
|
|
NM_000130.5(F5):c.1189_1197del (p.Thr397_Tyr399del)
|
|
|
|
NM_000130.5(F5):c.2521C>T (p.Gln841Ter)
|
|
|
|
NM_000130.5(F5):c.6010T>C (p.Trp2004Arg)
|
rs2101806568
|
|
|
NM_000132.4(F8):c.1180del (p.Ala394fs)
|
|
|
|
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)
|
rs137852416
|
|
|
NM_000132.4(F8):c.1712T>G (p.Leu571Arg)
|
|
|
|
NM_000132.4(F8):c.1804C>T (p.Arg602Ter)
|
rs137852424
|
|
|
NM_000132.4(F8):c.2043G>A (p.Met681Ile)
|
|
|
|
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys)
|
rs1384374956
|
|
|
NM_000132.4(F8):c.2945dup (p.Asn982fs)
|
rs387906447
|
|
|
NM_000132.4(F8):c.2974_2977del (p.Phe992fs)
|
rs2124052011
|
|
|
NM_000132.4(F8):c.3300dup (p.Glu1101fs)
|
|
|
|
NM_000132.4(F8):c.4379del (p.Asn1460fs)
|
rs387906455
|
|
|
NM_000132.4(F8):c.43C>T (p.Arg15Ter)
|
rs387906432
|
|
|
NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)
|
|
|
|
NM_000132.4(F8):c.5586+2T>C
|
|
|
|
NM_000132.4(F8):c.5939_5940del (p.His1980fs)
|
|
|
|
NM_000132.4(F8):c.5994del (p.Pro1999fs)
|
|
|
|
NM_000132.4(F8):c.6115+2T>C
|
|
|
|
NM_000132.4(F8):c.6274-2A>G
|
|
|
|
NM_000132.4(F8):c.6375T>A (p.Ser2125Arg)
|
|
|
|
NM_000132.4(F8):c.6900+1G>C
|
|
|
|
NM_000132.4(F8):c.755_756del (p.Thr252fs)
|
|
|
|
NM_000133.4(F9):c.1004G>A (p.Cys335Tyr)
|
|
|
|
NM_000133.4(F9):c.1069G>A (p.Gly357Arg)
|
rs137852257
|
|
|
NM_000133.4(F9):c.1193G>T (p.Gly398Val)
|
|
|
|
NM_000133.4(F9):c.128G>A (p.Arg43Gln)
|
rs1275708479
|
|
|
NM_000133.4(F9):c.881G>A (p.Arg294Gln)
|
rs137852249
|
|
|
NM_000135.4(FANCA):c.2150dup (p.Met717fs)
|
|
|
|
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)
|
rs2039260856
|
|
|
NM_000135.4(FANCA):c.2852+1del
|
|
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
|
NM_000135.4(FANCA):c.4010+2T>C
|
rs2062067746
|
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
|
NM_000175.5(GPI):c.1238A>G (p.Gln413Arg)
|
|
|
|
NM_000186.4(CFH):c.3449T>G (p.Ile1150Arg)
|
rs2149118066
|
|
|
NM_000186.4(CFH):c.672G>T (p.Lys224Asn)
|
rs1408473510
|
|
|
NM_000212.3(ITGB3):c.1703G>A (p.Cys568Tyr)
|
rs2143129695
|
|
|
NM_000212.3(ITGB3):c.615-1G>A
|
|
|
|
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn)
|
rs747097960
|
|
|
NM_000298.6(PKLR):c.1015del (p.Asp339fs)
|
rs1193689718
|
|
|
NM_000298.6(PKLR):c.1061A>G (p.Lys354Arg)
|
rs2148204121
|
|
|
NM_000298.6(PKLR):c.1575G>A (p.Trp525Ter)
|
rs2148198897
|
|
|
NM_000298.6(PKLR):c.227T>C (p.Leu76Pro)
|
|
|
|
NM_000298.6(PKLR):c.451G>A (p.Val151Met)
|
|
|
|
NM_000298.6(PKLR):c.694+43C>T
|
|
|
|
NM_000298.6(PKLR):c.808C>T (p.Arg270Ter)
|
|
|
|
NM_000298.6(PKLR):c.945G>C (p.Glu315Asp)
|
rs2148204818
|
|
|
NM_000312.4(PROC):c.446A>G (p.His149Arg)
|
|
|
|
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)
|
rs769664228
|
|
|
NM_000342.4(SLC4A1):c.1319T>A (p.Leu440Gln)
|
rs2144613306
|
|
|
NM_000342.4(SLC4A1):c.2464del (p.Val822fs)
|
|
|
|
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)
|
rs121912751
|
|
|
NM_000355.4(TCN2):c.623_624del (p.Arg208fs)
|
|
|
|
NM_000365.6(TPI1):c.694G>A (p.Val232Met)
|
rs1555132614
|
|
|
NM_000373.4(UMPS):c.1213C>T (p.Arg405Ter)
|
|
|
|
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del)
|
rs1569494034
|
|
|
NM_000377.3(WAS):c.134C>T (p.Thr45Met)
|
rs132630273
|
|
|
NM_000377.3(WAS):c.315dup (p.Val106fs)
|
|
|
|
NM_000377.3(WAS):c.385G>C (p.Ala129Pro)
|
|
|
|
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)
|
|
|
|
NM_000377.3(WAS):c.778-1G>A
|
rs2147265861
|
|
|
NM_000397.4(CYBB):c.1060C>T (p.His354Tyr)
|
|
|
|
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)
|
rs137852316
|
|
|
NM_000407.5(GP1BB):c.2T>C (p.Met1Thr)
|
|
|
|
NM_000407.5(GP1BB):c.423C>A (p.Cys141Ter)
|
rs1402804629
|
|
|
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His)
|
rs137852908
|
|
|
NM_000419.5(ITGA2B):c.1619_1660del (p.Gln540_Leu553del)
|
rs2143459210
|
|
|
NM_000419.5(ITGA2B):c.1624G>A (p.Asp542Asn)
|
|
|
|
NM_000419.5(ITGA2B):c.21_22del (p.Leu8fs)
|
rs2143507418
|
|
|
NM_000419.5(ITGA2B):c.409-3C>G
|
rs2143489585
|
|
|
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)
|
rs41464951
|
|
|
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)
|
rs41417548
|
|
|
NM_000518.5(HBB):c.138del (p.Phe46fs)
|
rs35133315
|
|
|
NM_000518.5(HBB):c.269del (p.Ser90fs)
|
rs2133587981
|
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
|
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)
|
rs33999427
|
|
|
NM_000518.5(HBB):c.93-22_95del
|
rs193922563
|
|
|
NM_000552.5(VWF):c.1839C>G (p.Cys613Trp)
|
|
|
|
NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg)
|
rs61749372
|
|
|
NM_000552.5(VWF):c.6599-5_6610del
|
|
|
|
NM_000552.5(VWF):c.7563G>A (p.Trp2521Ter)
|
|
|
|
NM_000558.5(HBA1):c.262C>T (p.His88Tyr)
|
rs28928876
|
|
|
NM_000558.5(HBA1):c.328del (p.Leu110fs)
|
rs281864535
|
|
|
NM_000671.4(ADH5):c.966del (p.Gly321_Trp322insTer)
|
rs748162259
|
|
|
NM_000969.5(RPL5):c.175_176del (p.Asp59fs)
|
rs1571024430
|
|
|
NM_000969.5(RPL5):c.189+1G>C
|
|
|
|
NM_000969.5(RPL5):c.509del (p.Gly170fs)
|
|
|
|
NM_000969.5(RPL5):c.613dup (p.Ala205fs)
|
rs2100688414
|
|
|
NM_000975.5(RPL11):c.124C>T (p.Gln42Ter)
|
|
|
|
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter)
|
rs121434389
|
|
|
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs)
|
rs780114238
|
|
|
NM_001001548.3(CD36):c.787_808del (p.Val263fs)
|
rs754365623
|
|
|
NM_001002010.5(NT5C3A):c.718G>T (p.Glu240Ter)
|
rs925502732
|
|
|
NM_001012339.3(DNAJC21):c.1004C>A (p.Ser335Ter)
|
|
|
|
NM_001018113.3(FANCB):c.195dup (p.Thr66fs)
|
rs1602006627
|
|
|
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
|
|
|
|
NM_001022.4(RPS19):c.1A>G (p.Met1Val)
|
rs2123255913
|
|
|
NM_001022.4(RPS19):c.296_297del (p.Val99fs)
|
rs1555841356
|
|
|
NM_001022.4(RPS19):c.71del (p.Lys24fs)
|
|
|
|
NM_001083116.3(PRF1):c.806A>G (p.His269Arg)
|
|
|
|
NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg)
|
rs192640536
|
|
|
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)
|
rs1432360280
|
|
|
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)
|
rs397514332
|
|
|
NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)
|
|
|
|
NM_001355436.2(SPTB):c.1908del (p.Lys637fs)
|
|
|
|
NM_001355436.2(SPTB):c.3082C>T (p.Gln1028Ter)
|
|
|
|
NM_001355436.2(SPTB):c.474+1G>A
|
|
|
|
NM_001355436.2(SPTB):c.5446A>T (p.Lys1816Ter)
|
rs1480466529
|
|
|
NM_001355436.2(SPTB):c.6223G>C (p.Glu2075Gln)
|
rs2139479145
|
|
|
NM_001364905.1(LRBA):c.1319del (p.Pro440fs)
|
|
|
|
NM_001364905.1(LRBA):c.2767-2A>G
|
rs1350061017
|
|
|
NM_001364905.1(LRBA):c.3952T>G (p.Leu1318Val)
|
rs2126914920
|
|
|
NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs)
|
|
|
|
NM_001364905.1(LRBA):c.534del (p.Asp179fs)
|
rs2149508258
|
|
|
NM_001364905.1(LRBA):c.5645+1G>C
|
|
|
|
NM_001364905.1(LRBA):c.8107_8110del (p.Ser2703fs)
|
|
|
|
NM_001372123.1(IKZF5):c.459G>C (p.Leu153Phe)
|
|
|
|
NM_001376013.1(EPB41):c.1604C>T (p.Ala535Val)
|
|
|
|
NM_001386140.1(MTTP):c.640del (p.Ala214fs)
|
rs2110218614
|
|
|
NM_001754.5(RUNX1):c.154A>G (p.Met52Val)
|
|
|
|
NM_001814.6(CTSC):c.526A>T (p.Lys176Ter)
|
|
|
|
NM_001972.4(ELANE):c.284C>G (p.Thr95Ser)
|
rs752760119
|
|
|
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His)
|
rs774455945
|
|
|
NM_002393.5(MDM4):c.1147T>C (p.Ser383Pro)
|
rs2102456822
|
|
|
NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)
|
|
|
|
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)
|
rs80338826
|
|
|
NM_002473.6(MYH9):c.2440C>T (p.Arg814Trp)
|
|
|
|
NM_002473.6(MYH9):c.2548A>G (p.Lys850Glu)
|
|
|
|
NM_002473.6(MYH9):c.3193G>T (p.Ala1065Ser)
|
|
|
|
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)
|
rs80338829
|
|
|
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs)
|
|
|
|
NM_003126.4(SPTA1):c.1007C>T (p.Ser336Leu)
|
rs2101929378
|
|
|
NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter)
|
rs762088983
|
|
|
NM_003200.5(TCF3):c.607G>A (p.Ala203Thr)
|
rs138005323
|
|
|
NM_003200.5(TCF3):c.760G>A (p.Gly254Ser)
|
|
|
|
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)
|
rs104893624
|
|
|
NM_003846.3(PEX11B):c.338G>A (p.Arg113His)
|
|
|
|
NM_004119.3(FLT3):c.2533A>G (p.Arg845Gly)
|
|
|
|
NM_004629.2(FANCG):c.552dup (p.Ser185fs)
|
rs1412207017
|
|
|
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
|
rs397518423
|
|
|
NM_005141.5(FGB):c.691T>C (p.Cys231Arg)
|
rs1730226269
|
|
|
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile)
|
rs121913459
|
|
|
NM_005373.3(MPL):c.1671dup (p.Asp558fs)
|
rs1647100516
|
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
|
NM_005373.3(MPL):c.382G>T (p.Asp128Tyr)
|
|
|
|
NM_005476.7(GNE):c.448A>G (p.Ile150Val)
|
rs758814313
|
|
|
NM_006060.6(IKZF1):c.1275dup (p.Leu426fs)
|
|
|
|
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)
|
rs1572018284
|
|
|
NM_006363.6(SEC23B):c.113del (p.Leu38fs)
|
|
|
|
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs)
|
rs565782662
|
|
|
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
|
|
|
|
NM_012452.3(TNFRSF13B):c.842_857del (p.Ile281fs)
|
rs2087491615
|
|
|
NM_015338.6(ASXL1):c.2068_2069del (p.Asp690fs)
|
|
|
|
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs)
|
rs869320719
|
|
|
NM_018062.4(FANCL):c.1_22dup (p.Leu8fs)
|
|
|
|
NM_018368.4(LMBRD1):c.1094_1095del (p.Leu365fs)
|
rs2149844541
|
|
|
NM_020070.4(IGLL1):c.258del (p.Gln88fs)
|
rs532338576
|
|
|
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)
|
rs769399833
|
|
|
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp)
|
rs104894324
|
|
|
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter)
|
rs895175332
|
|
|
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
|
|
|
|
NM_030943.4(AMN):c.149T>C (p.Phe50Ser)
|
rs772475317
|
|
|
NM_032383.5(HPS3):c.1561del (p.Leu521fs)
|
rs2108158577
|
|
|
NM_080911.3(UNG):c.649dup (p.Thr217fs)
|
rs1302020618
|
|
|
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)
|
|
|
|
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)
|
|
|
|
NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter)
|
|
|
|
NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter)
|
|
|
|
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp)
|
rs113994135
|
|
|
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)
|
rs869312888
|
|
|
NM_139276.3(STAT3):c.1909G>A (p.Val637Met)
|
rs113994139
|
|
|
NM_139276.3(STAT3):c.551-1G>C
|
rs1598423756
|
|
|
NM_152564.5(VPS13B):c.1651G>A (p.Gly551Ser)
|
rs1346704740
|
|
|
NM_152564.5(VPS13B):c.2905C>T (p.Gln969Ter)
|
rs2133295344
|
|
|
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)
|
rs386834098
|
|
|
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter)
|
rs747644844
|
|
|
NM_152703.5(SAMD9L):c.303del (p.Asn103fs)
|
rs2116506727
|
|
|
NM_172351.3(CD46):c.350_351dup (p.Glu118fs)
|
rs2102541856
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>T
|
rs587777709
|
|
|
NM_203447.4(DOCK8):c.4223C>G (p.Ala1408Gly)
|
rs2131649115
|
|