NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)
|
rs386833646
|
0.00005
|
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)
|
rs386833650
|
0.00003
|
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)
|
rs386833640
|
0.00002
|
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)
|
rs386833639
|
0.00001
|
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)
|
rs386833642
|
0.00001
|
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)
|
rs386833645
|
0.00001
|
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)
|
rs386833649
|
0.00001
|
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)
|
rs386833655
|
0.00001
|
NM_000310.4(PPT1):c.566C>G (p.Pro189Arg)
|
rs386833658
|
0.00001
|
NM_000310.4(PPT1):c.628-1G>T
|
rs386833659
|
0.00001
|
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)
|
rs386833661
|
0.00001
|
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)
|
rs386833665
|
0.00001
|
NM_000310.4(PPT1):c.*526_*529del
|
rs386833624
|
|
NM_000310.4(PPT1):c.114G>A (p.Trp38Ter)
|
rs386833626
|
|
NM_000310.4(PPT1):c.114G>T (p.Trp38Cys)
|
rs386833626
|
|
NM_000310.4(PPT1):c.114del (p.Trp38fs)
|
rs386833625
|
|
NM_000310.4(PPT1):c.117T>A (p.His39Gln)
|
rs386833627
|
|
NM_000310.4(PPT1):c.125-15T>G
|
rs386833629
|
|
NM_000310.4(PPT1):c.125-2A>G
|
rs386833630
|
|
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)
|
rs386833631
|
|
NM_000310.4(PPT1):c.135_137dup (p.Cys46dup)
|
rs386833632
|
|
NM_000310.4(PPT1):c.163A>T (p.Lys55Ter)
|
rs386833633
|
|
NM_000310.4(PPT1):c.169dup (p.Met57fs)
|
rs386833634
|
|
NM_000310.4(PPT1):c.175del (p.Glu59fs)
|
rs386833635
|
|
NM_000310.4(PPT1):c.235-3T>C
|
rs386833636
|
|
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del)
|
rs386833637
|
|
NM_000310.4(PPT1):c.271_287delinsTT (p.Gln91_Cys96delinsPhe)
|
rs386833638
|
|
NM_000310.4(PPT1):c.310A>T (p.Lys104Ter)
|
rs386833641
|
|
NM_000310.4(PPT1):c.363-3T>G
|
rs386833643
|
|
NM_000310.4(PPT1):c.398del (p.Met133fs)
|
rs386833644
|
|
NM_000310.4(PPT1):c.455G>A (p.Cys152Tyr)
|
rs386833647
|
|
NM_000310.4(PPT1):c.456C>A (p.Cys152Ter)
|
rs386833648
|
|
NM_000310.4(PPT1):c.536+1G>A
|
rs386833651
|
|
NM_000310.4(PPT1):c.536+2T>C
|
rs386833652
|
|
NM_000310.4(PPT1):c.538dup (p.Leu180fs)
|
rs386833653
|
|
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)
|
rs148412181
|
|
NM_000310.4(PPT1):c.544C>T (p.Gln182Ter)
|
rs386833654
|
|
NM_000310.4(PPT1):c.558G>A (p.Trp186Ter)
|
rs386833656
|
|
NM_000310.4(PPT1):c.560A>G (p.His187Arg)
|
rs386833657
|
|
NM_000310.4(PPT1):c.644del (p.Tyr215fs)
|
rs386833660
|
|
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)
|
rs386833662
|
|
NM_000310.4(PPT1):c.683T>G (p.Val228Gly)
|
rs386833663
|
|
NM_000310.4(PPT1):c.727-2A>T
|
rs386833664
|
|
NM_000310.4(PPT1):c.749G>T (p.Gly250Val)
|
rs386833666
|
|
NM_000310.4(PPT1):c.774dup (p.Gln259fs)
|
rs386833667
|
|
NM_000310.4(PPT1):c.871C>T (p.Gln291Ter)
|
rs386833668
|
|
NM_000310.4(PPT1):c.886T>C (p.Trp296Arg)
|
rs386833669
|
|
NM_000310.4(PPT1):c.888G>A (p.Trp296Ter)
|
rs386833670
|
|
NM_000310.4(PPT1):c.914T>C (p.Leu305Pro)
|
rs386833671
|
|