NM_006579.3(EBP):c.382C>T (p.Leu128=)
|
rs142881014
|
0.00291
|
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)
|
rs141925556
|
0.00064
|
NM_006579.3(EBP):c.141G>T (p.Trp47Cys)
|
rs587783599
|
|
NM_006579.3(EBP):c.182G>A (p.Trp61Ter)
|
rs587783600
|
|
NM_006579.3(EBP):c.201_203dup (p.Cys67dup)
|
rs797045542
|
|
NM_006579.3(EBP):c.204G>T (p.Trp68Cys)
|
rs587783601
|
|
NM_006579.3(EBP):c.214T>C (p.Cys72Arg)
|
rs587783602
|
|
NM_006579.3(EBP):c.218G>A (p.Gly73Glu)
|
rs587783603
|
|
NM_006579.3(EBP):c.225dup (p.His76fs)
|
rs797045543
|
|
NM_006579.3(EBP):c.238G>A (p.Glu80Lys)
|
rs104894800
|
|
NM_006579.3(EBP):c.292_296del (p.Ser98fs)
|
rs587783604
|
|
NM_006579.3(EBP):c.299T>C (p.Leu100Pro)
|
rs587783605
|
|
NM_006579.3(EBP):c.301+2T>A
|
rs587783606
|
|
NM_006579.3(EBP):c.303G>T (p.Trp101Cys)
|
rs587783607
|
|
NM_006579.3(EBP):c.304A>T (p.Lys102Ter)
|
rs587783608
|
|
NM_006579.3(EBP):c.310T>C (p.Tyr104His)
|
rs587783609
|
|
NM_006579.3(EBP):c.311A>G (p.Tyr104Cys)
|
rs587783610
|
|
NM_006579.3(EBP):c.314C>A (p.Ala105Asp)
|
rs587783611
|
|
NM_006579.3(EBP):c.320G>A (p.Gly107Glu)
|
rs587783612
|
|
NM_006579.3(EBP):c.328C>T (p.Arg110Ter)
|
rs587783613
|
|
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter)
|
rs797045544
|
|
NM_006579.3(EBP):c.331T>C (p.Tyr111His)
|
rs587783614
|
|
NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly)
|
rs797045545
|
|
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs)
|
rs797045546
|
|
NM_006579.3(EBP):c.440G>A (p.Arg147His)
|
rs28935174
|
|
NM_006579.3(EBP):c.464_465del (p.Ser155fs)
|
rs587783615
|
|
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter)
|
rs587783616
|
|
NM_006579.3(EBP):c.481G>A (p.Gly161Arg)
|
rs587783617
|
|
NM_006579.3(EBP):c.484dup (p.Asp162fs)
|
rs797045547
|
|
NM_006579.3(EBP):c.527A>G (p.His176Arg)
|
rs587783618
|
|
NM_006579.3(EBP):c.632T>G (p.Leu211Arg)
|
rs587783619
|
|
NM_006579.3(EBP):c.684GAA[1] (p.Lys229del)
|
rs587783620
|
|