NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)
|
rs137852695
|
0.00061
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)
|
rs137852696
|
0.00006
|
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.529C>G (p.Gln177Glu)
|
rs386833650
|
0.00003
|
NM_000310.4(PPT1):c.124+1G>A
|
rs386833628
|
0.00001
|
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)
|
rs386833642
|
0.00001
|
NM_000310.4(PPT1):c.353G>A (p.Gly118Asp)
|
rs143657539
|
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.665T>C (p.Leu222Pro)
|
rs386833661
|
0.00001
|
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)
|
rs746043871
|
0.00001
|
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)
|
rs386833665
|
0.00001
|
NM_000310.4(PPT1):c.114G>T (p.Trp38Cys)
|
rs386833626
|
|
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)
|
rs386833631
|
|
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.234+2T>C
|
|
|
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del)
|
rs386833637
|
|
NM_000310.4(PPT1):c.286_289dup (p.Gln97fs)
|
|
|
NM_000310.4(PPT1):c.29_41del (p.Leu10fs)
|
rs762226836
|
|
NM_000310.4(PPT1):c.362+5G>A
|
rs796052924
|
|
NM_000310.4(PPT1):c.367del (p.Ala123fs)
|
|
|
NM_000310.4(PPT1):c.398del (p.Met133fs)
|
rs386833644
|
|
NM_000310.4(PPT1):c.455del (p.Cys152fs)
|
rs886041568
|
|
NM_000310.4(PPT1):c.50G>A (p.Trp17Ter)
|
|
|
NM_000310.4(PPT1):c.533A>T (p.Glu178Val)
|
|
|
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)
|
rs148412181
|
|
NM_000310.4(PPT1):c.561_562del (p.His187fs)
|
|
|
NM_000310.4(PPT1):c.585T>G (p.Tyr195Ter)
|
|
|
NM_000310.4(PPT1):c.629_630dup (p.Ile211fs)
|
rs1302326945
|
|
NM_000310.4(PPT1):c.653dup (p.Asn218fs)
|
rs1057516889
|
|
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)
|
rs878853322
|
|
NM_000310.4(PPT1):c.798+1G>T
|
rs878853929
|
|
NM_000310.4(PPT1):c.798+2T>C
|
rs1553166337
|
|
NM_000310.4(PPT1):c.885del (p.Glu295fs)
|
|
|
NM_000310.4(PPT1):c.902T>A (p.Ile301Asn)
|
rs1648432406
|
|