|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
|
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp)
|
rs148910227
|
0.00072
|
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
|
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_001040436.3(YARS2):c.933C>G (p.Asp311Glu)
|
rs745595833
|
0.00004
|
|
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg)
|
rs41328049
|
0.00003
|
|
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys)
|
rs387906674
|
0.00002
|
|
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser)
|
rs776594413
|
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_007259.5(VPS45):c.712G>A (p.Glu238Lys)
|
rs782269909
|
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.3325C>T (p.Gln1109Ter)
|
rs2150593157
|
|
|
NM_000037.4(ANK1):c.5108G>A (p.Trp1703Ter)
|
rs2150556792
|
|
|
NM_000061.3(BTK):c.372G>T (p.Trp124Cys)
|
|
|
|
NM_000061.3(BTK):c.839+1G>C
|
rs1569292649
|
|
|
NM_000074.3(CD40LG):c.634del (p.His212fs)
|
|
|
|
NM_000132.4(F8):c.1180del (p.Ala394fs)
|
|
|
|
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)
|
rs137852416
|
|
|
NM_000132.4(F8):c.2043G>A (p.Met681Ile)
|
|
|
|
NM_000132.4(F8):c.2974_2977del (p.Phe992fs)
|
rs2124052011
|
|
|
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.6274-2A>G
|
|
|
|
NM_000132.4(F8):c.6375T>A (p.Ser2125Arg)
|
|
|
|
NM_000132.4(F8):c.6900+1G>C
|
|
|
|
NM_000133.4(F9):c.1004G>A (p.Cys335Tyr)
|
|
|
|
NM_000133.4(F9):c.1193G>T (p.Gly398Val)
|
|
|
|
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn)
|
rs747097960
|
|
|
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)
|
rs769664228
|
|
|
NM_000342.4(SLC4A1):c.2464del (p.Val822fs)
|
|
|
|
NM_000377.3(WAS):c.315dup (p.Val106fs)
|
|
|
|
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)
|
|
|
|
NM_000377.3(WAS):c.778-1G>A
|
rs2147265861
|
|
|
NM_000407.5(GP1BB):c.2T>C (p.Met1Thr)
|
|
|
|
NM_000407.5(GP1BB):c.423C>A (p.Cys141Ter)
|
rs1402804629
|
|
|
NM_000518.5(HBB):c.269del (p.Ser90fs)
|
rs2133587981
|
|
|
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)
|
rs33999427
|
|
|
NM_000558.5(HBA1):c.328del (p.Leu110fs)
|
rs281864535
|
|
|
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_001012339.3(DNAJC21):c.1004C>A (p.Ser335Ter)
|
|
|
|
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
|
|
|
|
NM_001022.4(RPS19):c.71del (p.Lys24fs)
|
|
|
|
NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg)
|
rs192640536
|
|
|
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_001364905.1(LRBA):c.1319del (p.Pro440fs)
|
|
|
|
NM_001364905.1(LRBA):c.2767-2A>G
|
rs1350061017
|
|
|
NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs)
|
|
|
|
NM_001364905.1(LRBA):c.5645+1G>C
|
|
|
|
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs)
|
|
|
|
NM_004119.3(FLT3):c.2533A>G (p.Arg845Gly)
|
|
|
|
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_005476.7(GNE):c.448A>G (p.Ile150Val)
|
rs758814313
|
|
|
NM_006060.6(IKZF1):c.1275dup (p.Leu426fs)
|
|
|
|
NM_006363.6(SEC23B):c.113del (p.Leu38fs)
|
|
|
|
NM_015338.6(ASXL1):c.2068_2069del (p.Asp690fs)
|
|
|
|
NM_018062.4(FANCL):c.1_22dup (p.Leu8fs)
|
|
|
|
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)
|
rs769399833
|
|
|
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
|
|
|
|
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)
|
rs869312888
|
|
|
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter)
|
rs747644844
|
|
|
NM_152703.5(SAMD9L):c.303del (p.Asn103fs)
|
rs2116506727
|
|