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.329A>G (p.Asn110Ser)
|
rs142894102
|
0.00010
|
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.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.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.776dup (p.Glu260fs)
|
rs1349528345
|
0.00001
|
NC_000001.10:g.(?_40542494)_(40562910_?)del
|
|
|
NC_000001.10:g.(?_40555072)_(40558194_?)del
|
|
|
NC_000001.10:g.(?_40557947)_40561572del
|
|
|
NC_000001.10:g.(?_40558060)_(40561460_?)del
|
|
|
NC_000001.10:g.(?_40561110)_(40562920_?)del
|
|
|
NC_000001.11:g.(?_40089400)_(40097248_?)del
|
|
|
NM_000310.4(PPT1):c.102del (p.Leu35fs)
|
rs1649901192
|
|
NM_000310.4(PPT1):c.112del (p.Trp38fs)
|
|
|
NM_000310.4(PPT1):c.124+1215_235-103del
|
|
|
NM_000310.4(PPT1):c.125-2A>T
|
|
|
NM_000310.4(PPT1):c.134G>A (p.Cys45Tyr)
|
rs137852702
|
|
NM_000310.4(PPT1):c.169del (p.Met57fs)
|
|
|
NM_000310.4(PPT1):c.169dup (p.Met57fs)
|
rs386833634
|
|
NM_000310.4(PPT1):c.175del (p.Glu59fs)
|
rs386833635
|
|
NM_000310.4(PPT1):c.184del (p.Ile62fs)
|
rs1057517192
|
|
NM_000310.4(PPT1):c.1A>C (p.Met1Leu)
|
|
|
NM_000310.4(PPT1):c.21_25dup (p.Leu9fs)
|
|
|
NM_000310.4(PPT1):c.234+1G>A
|
rs796052923
|
|
NM_000310.4(PPT1):c.263del (p.Val88fs)
|
rs2124487925
|
|
NM_000310.4(PPT1):c.289_290del (p.Gln97fs)
|
rs1649597261
|
|
NM_000310.4(PPT1):c.290del (p.Gln97fs)
|
|
|
NM_000310.4(PPT1):c.294_297dup (p.Ala100fs)
|
rs1057517049
|
|
NM_000310.4(PPT1):c.29_41del (p.Leu10fs)
|
rs762226836
|
|
NM_000310.4(PPT1):c.29_41dup (p.Leu15fs)
|
rs762226836
|
|
NM_000310.4(PPT1):c.2T>A (p.Met1Lys)
|
rs796052927
|
|
NM_000310.4(PPT1):c.30_42dup (p.Leu15fs)
|
|
|
NM_000310.4(PPT1):c.316C>T (p.Gln106Ter)
|
|
|
NM_000310.4(PPT1):c.319C>T (p.Gln107Ter)
|
|
|
NM_000310.4(PPT1):c.335_336del (p.Met112fs)
|
rs1570470281
|
|
NM_000310.4(PPT1):c.343_344dup (p.Gln116fs)
|
rs2124487750
|
|
NM_000310.4(PPT1):c.398del (p.Met133fs)
|
rs386833644
|
|
NM_000310.4(PPT1):c.432del (p.Gly145fs)
|
|
|
NM_000310.4(PPT1):c.433+1G>A
|
rs1553167415
|
|
NM_000310.4(PPT1):c.440_441del (p.Phe147fs)
|
|
|
NM_000310.4(PPT1):c.455del (p.Cys152fs)
|
rs886041568
|
|
NM_000310.4(PPT1):c.480_481del (p.Cys160_Asp161delinsTer)
|
|
|
NM_000310.4(PPT1):c.51G>A (p.Trp17Ter)
|
rs2124494531
|
|
NM_000310.4(PPT1):c.529C>T (p.Gln177Ter)
|
rs386833650
|
|
NM_000310.4(PPT1):c.532del (p.Glu178fs)
|
rs878853325
|
|
NM_000310.4(PPT1):c.541G>C (p.Val181Leu)
|
rs148412181
|
|
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)
|
rs148412181
|
|
NM_000310.4(PPT1):c.607del (p.Ala203fs)
|
|
|
NM_000310.4(PPT1):c.614_620del (p.Ile205fs)
|
rs2124474476
|
|
NM_000310.4(PPT1):c.628-2A>G
|
rs2124472385
|
|
NM_000310.4(PPT1):c.628-2A>T
|
|
|
NM_000310.4(PPT1):c.629_630dup (p.Ile211fs)
|
rs1302326945
|
|
NM_000310.4(PPT1):c.637G>T (p.Glu213Ter)
|
|
|
NM_000310.4(PPT1):c.653dup (p.Asn218fs)
|
rs1057516889
|
|
NM_000310.4(PPT1):c.6del (p.Ser3fs)
|
rs1570476221
|
|
NM_000310.4(PPT1):c.712_713del (p.Pro238fs)
|
rs2124472229
|
|
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)
|
rs878853322
|
|
NM_000310.4(PPT1):c.721del (p.Ser241fs)
|
rs1553166499
|
|
NM_000310.4(PPT1):c.722C>A (p.Ser241Ter)
|
|
|
NM_000310.4(PPT1):c.727-1G>A
|
rs1648659458
|
|
NM_000310.4(PPT1):c.727-2A>T
|
rs386833664
|
|
NM_000310.4(PPT1):c.728G>A (p.Trp243Ter)
|
rs1477443863
|
|
NM_000310.4(PPT1):c.72_73delinsTT (p.Gln25Ter)
|
|
|
NM_000310.4(PPT1):c.741C>A (p.Tyr247Ter)
|
rs2124470378
|
|
NM_000310.4(PPT1):c.775C>T (p.Gln259Ter)
|
|
|
NM_000310.4(PPT1):c.798+1G>T
|
rs878853929
|
|
NM_000310.4(PPT1):c.798+2T>C
|
rs1553166337
|
|
NM_000310.4(PPT1):c.820del (p.Met274fs)
|
|
|