|
NM_000377.3(WAS):c.995T>C (p.Val332Ala)
|
rs2737799
|
0.00489
|
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
|
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)
|
rs148312697
|
0.00043
|
|
NM_000081.4(LYST):c.6782G>A (p.Arg2261His)
|
rs147791378
|
0.00031
|
|
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His)
|
rs141832130
|
0.00023
|
|
NM_001261826.3(AP3D1):c.2936C>T (p.Pro979Leu)
|
rs776432599
|
0.00004
|
|
NM_000081.4(LYST):c.10870G>A (p.Val3624Ile)
|
rs776033238
|
0.00003
|
|
NM_005141.5(FGB):c.139C>T (p.Arg47Ter)
|
rs121909625
|
0.00003
|
|
NM_000081.4(LYST):c.10095G>C (p.Lys3365Asn)
|
|
|
|
NM_000081.4(LYST):c.10100del (p.Lys3367fs)
|
|
|
|
NM_000081.4(LYST):c.10507G>A (p.Ala3503Thr)
|
|
|
|
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
|
|
|
|
NM_000081.4(LYST):c.1184G>A (p.Arg395His)
|
|
|
|
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
|
|
|
|
NM_000081.4(LYST):c.7136T>C (p.Leu2379Pro)
|
|
|
|
NM_000081.4(LYST):c.7688C>T (p.Thr2563Ile)
|
|
|
|
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
|
|
|
|
NM_000081.4(LYST):c.8827T>C (p.Tyr2943His)
|
|
|
|
NM_000377.3(WAS):c.128G>A (p.Cys43Tyr)
|
rs2147262523
|
|
|
NM_000377.3(WAS):c.1429A>G (p.Arg477Gly)
|
rs2147267330
|
|
|
NM_000377.3(WAS):c.167C>T (p.Ala56Val)
|
rs132630269
|
|
|
NM_000377.3(WAS):c.257G>A (p.Arg86His)
|
rs132630268
|
|
|
NM_000377.3(WAS):c.360+5G>A
|
|
|
|
NM_000377.3(WAS):c.445A>T (p.Asn149Tyr)
|
rs2147263992
|
|
|
NM_000377.3(WAS):c.802del (p.Arg268fs)
|
rs2147265894
|
|
|
NM_001261826.3(AP3D1):c.1523G>C (p.Arg508Pro)
|
rs768071199
|
|
|
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter)
|
rs1746480237
|
|
|
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)
|
rs121913087
|
|
|
NM_021870.3(FGG):c.1190C>T (p.Thr397Ile)
|
rs1731071910
|
|
|
NM_021870.3(FGG):c.793C>T (p.Gln265Ter)
|
rs771279321
|
|
|
NM_021871.4(FGA):c.103C>G (p.Arg35Gly)
|
rs121909606
|
|
|
NM_021871.4(FGA):c.1055del (p.Pro352fs)
|
rs1299596156
|
|
|
NM_021871.4(FGA):c.1486G>T (p.Asp496Tyr)
|
rs2110809573
|
|
|
NM_031471.6(FERMT3):c.593T>C (p.Leu198Pro)
|
|
|
|
NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe)
|
rs281875291
|
|
|
NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His)
|
rs281875337
|
|
|
NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter)
|
rs2130769073
|
|
|
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)
|
rs879255268
|
|
|
NM_198291.3(SRC):c.1585C>G (p.Gln529Glu)
|
|
|