NM_000310.4(PPT1):c.541G>A (p.Val181Met)
|
rs148412181
|
0.00006
|
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)
|
rs386833646
|
0.00005
|
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)
|
rs137852699
|
0.00004
|
NM_000310.4(PPT1):c.2T>C (p.Met1Thr)
|
rs796052927
|
0.00003
|
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)
|
rs386833640
|
0.00002
|
NM_000310.4(PPT1):c.*529_*530insATCG
|
rs1475500814
|
0.00001
|
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)
|
rs386833639
|
0.00001
|
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)
|
rs386833645
|
0.00001
|
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)
|
rs796052925
|
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.628-1G>T
|
rs386833659
|
0.00001
|
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)
|
rs746043871
|
0.00001
|
NM_000310.4(PPT1):c.776dup (p.Glu260fs)
|
rs1349528345
|
0.00001
|
NM_000310.4(PPT1):c.*521_*532dup
|
rs1553166026
|
|
NM_000310.4(PPT1):c.*529_*530insAGCA
|
rs1553166029
|
|
NM_000310.4(PPT1):c.*529_*530insGTCA
|
rs1553166030
|
|
NM_000310.4(PPT1):c.114del (p.Trp38fs)
|
rs386833625
|
|
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)
|
rs386833631
|
|
NM_000310.4(PPT1):c.169dup (p.Met57fs)
|
rs386833634
|
|
NM_000310.4(PPT1):c.175_177del (p.Glu59del)
|
rs1553167495
|
|
NM_000310.4(PPT1):c.184del (p.Ile62fs)
|
rs1057517192
|
|
NM_000310.4(PPT1):c.18_21del (p.Leu7fs)
|
rs1553167863
|
|
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del)
|
rs386833637
|
|
NM_000310.4(PPT1):c.281_282del (p.Thr94fs)
|
rs1553167479
|
|
NM_000310.4(PPT1):c.294_297dup (p.Ala100fs)
|
rs1057517049
|
|
NM_000310.4(PPT1):c.29_41dup (p.Leu15fs)
|
rs762226836
|
|
NM_000310.4(PPT1):c.327C>A (p.Tyr109Ter)
|
rs1057516447
|
|
NM_000310.4(PPT1):c.338del (p.Gly113fs)
|
rs1553167474
|
|
NM_000310.4(PPT1):c.362+1G>A
|
rs1057517401
|
|
NM_000310.4(PPT1):c.363-2A>G
|
rs1553167430
|
|
NM_000310.4(PPT1):c.398del (p.Met133fs)
|
rs386833644
|
|
NM_000310.4(PPT1):c.433+1G>A
|
rs1553167415
|
|
NM_000310.4(PPT1):c.455del (p.Cys152fs)
|
rs886041568
|
|
NM_000310.4(PPT1):c.48_54del (p.Trp17fs)
|
rs1057517112
|
|
NM_000310.4(PPT1):c.529C>T (p.Gln177Ter)
|
rs386833650
|
|
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)
|
rs148412181
|
|
NM_000310.4(PPT1):c.627+1G>T
|
rs1265044710
|
|
NM_000310.4(PPT1):c.653dup (p.Asn218fs)
|
rs1057516889
|
|
NM_000310.4(PPT1):c.721del (p.Ser241fs)
|
rs1553166499
|
|
NM_000310.4(PPT1):c.798+1G>T
|
rs878853929
|
|
NM_000310.4(PPT1):c.798+2T>C
|
rs1553166337
|
|
NM_000310.4(PPT1):c.799-2A>G
|
rs1553166147
|
|
NM_000310.4(PPT1):c.821dup (p.Met274fs)
|
rs1057516575
|
|
NM_000310.4(PPT1):c.835C>T (p.Gln279Ter)
|
rs1553166135
|
|
NM_000310.4(PPT1):c.8C>A (p.Ser3Ter)
|
rs747204624
|
|