NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)
|
rs149266909
|
0.00116
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)
|
rs61750077
|
0.00010
|
NM_000558.5(HBA1):c.237del (p.Asn79fs)
|
rs767911847
|
0.00009
|
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu)
|
rs121434322
|
0.00008
|
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter)
|
rs774419705
|
0.00004
|
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met)
|
rs587776991
|
0.00004
|
NM_172351.3(CD46):c.286+2T>G
|
rs769742294
|
0.00004
|
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)
|
rs781876217
|
0.00003
|
NM_001814.6(CTSC):c.815G>A (p.Arg272His)
|
rs587777534
|
0.00003
|
NM_000096.4(CP):c.1948G>A (p.Gly650Arg)
|
rs776936158
|
0.00002
|
NM_019616.4(F7):c.1158T>G (p.His386Gln)
|
rs121964936
|
0.00002
|
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter)
|
rs905672088
|
0.00001
|
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp)
|
rs61748482
|
0.00001
|
NM_022725.4(FANCF):c.690del (p.Gly231fs)
|
rs747622521
|
0.00001
|
NC_000023.10:g.(?_153640181)_(153641904_?)del
|
|
|
NM_000061.3(BTK):c.1526T>C (p.Met509Thr)
|
rs1569291644
|
|
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter)
|
rs397515738
|
|
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg)
|
rs397515740
|
|
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)
|
rs397515739
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val)
|
rs727504431
|
|
NM_000128.4(F11):c.449C>T (p.Thr150Met)
|
rs1340928778
|
|
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
|
|
|
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
|
|
|
NM_000132.4(F8):c.5453dup (p.Ala1819fs)
|
|
|
NM_000132.4(F8):c.5587-93C>T
|
rs1264918703
|
|
NM_000132.4(F8):c.984T>G (p.Phe328Leu)
|
rs782668199
|
|
NM_000135.4(FANCA):c.1952del (p.Gly651fs)
|
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter)
|
rs1450151864
|
|
NM_000136.3(FANCC):c.34del (p.Tyr12fs)
|
|
|
NM_000212.3(ITGB3):c.2085C>G (p.Tyr695Ter)
|
|
|
NM_000419.5(ITGA2B):c.189-1G>C
|
|
|
NM_000419.5(ITGA2B):c.591C>G (p.Tyr197Ter)
|
|
|
NM_000517.6(HBA2):c.2T>G (p.Met1Arg)
|
|
|
NM_000518.5(HBB):c.-121C>T
|
rs281864518
|
|
NM_000552.5(VWF):c.1181C>G (p.Ser394Ter)
|
|
|
NM_000552.5(VWF):c.1506G>A (p.Trp502Ter)
|
|
|
NM_000552.5(VWF):c.2968-1G>A
|
|
|
NM_000552.5(VWF):c.3179del (p.Cys1060fs)
|
rs762105711
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000558.5(HBA1):c.60del (p.His21fs)
|
|
|
NM_000558.5(HBA1):c.99G>A (p.Met33Ile)
|
|
|
NM_001001548.3(CD36):c.380C>G (p.Ser127Ter)
|
rs201765331
|
|
NM_001018115.3(FANCD2):c.1278+1G>T
|
|
|
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)
|
rs770921101
|
|
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)
|
rs765301342
|
|
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)
|
|
|
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)
|
rs121918453
|
|
NM_003998.4(NFKB1):c.1753-1G>C
|
|
|
NM_004629.2(FANCG):c.1771_1772del (p.Leu591fs)
|
|
|
NM_006363.6(SEC23B):c.1079del (p.Leu360fs)
|
rs1600244935
|
|
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs)
|
rs761490126
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)
|
rs369053765
|
|
NM_024747.6(HPS6):c.238dup (p.Asp80fs)
|
rs281865108
|
|
NM_032043.3(BRIP1):c.2258-2A>G
|
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
NM_139027.6(ADAMTS13):c.415-1G>A
|
rs1554785114
|
|
NM_152564.5(VPS13B):c.2516-2A>G
|
rs1554706114
|
|