NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln)
|
rs28935493
|
0.00001
|
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)
|
rs28935197
|
0.00001
|
NM_000169.3(GLA):c.679C>T (p.Arg227Ter)
|
rs104894841
|
0.00001
|
GLA, 1-BP DEL, NT716
|
|
|
GLA, 2-BP DEL, NT1176
|
|
|
NG_007119.1:g.10472_13669del
|
|
|
NG_007119.1:g.14126_15974del15826_15976inv15975_15988del
|
|
|
NM_000169.2(GLA):c.[196G>C;334C>T]
|
|
|
NM_000169.3(GLA):c.1017_1027del (p.Trp340fs)
|
rs1603037764
|
|
NM_000169.3(GLA):c.101A>G (p.Asn34Ser)
|
rs104894835
|
|
NM_000169.3(GLA):c.1020G>A (p.Trp340Ter)
|
rs104894842
|
|
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)
|
rs104894843
|
|
NM_000169.3(GLA):c.1040dup (p.Leu347fs)
|
rs1928137855
|
|
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)
|
rs104894827
|
|
NM_000169.3(GLA):c.1081G>C (p.Gly361Arg)
|
rs28935494
|
|
NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter)
|
rs104894849
|
|
NM_000169.3(GLA):c.1124_1176del (p.Gly375fs)
|
rs1603037323
|
|
NM_000169.3(GLA):c.1147_1149del (p.Phe383del)
|
rs1057519609
|
|
NM_000169.3(GLA):c.118C>T (p.Pro40Ser)
|
rs104894831
|
|
NM_000169.3(GLA):c.1192G>T (p.Glu398Ter)
|
rs104894844
|
|
NM_000169.3(GLA):c.1209AAG[1] (p.Arg404del)
|
rs869312241
|
|
NM_000169.3(GLA):c.1228A>G (p.Thr410Ala)
|
rs104894852
|
|
NM_000169.3(GLA):c.125_137del (p.Met42fs)
|
rs1603047806
|
|
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs)
|
rs869312249
|
|
NM_000169.3(GLA):c.1284_1287del (p.Leu428fs)
|
rs869312250
|
|
NM_000169.3(GLA):c.131G>A (p.Trp44Ter)
|
rs104894829
|
|
NM_000169.3(GLA):c.166T>G (p.Cys56Gly)
|
rs104894836
|
|
NM_000169.3(GLA):c.194+1222_998dup
|
|
|
NM_000169.3(GLA):c.194G>C (p.Ser65Thr)
|
rs104894848
|
|
NM_000169.3(GLA):c.19_369+582del
|
|
|
NM_000169.3(GLA):c.369+2T>G
|
rs387906483
|
|
NM_000169.3(GLA):c.370-1G>A
|
rs869312287
|
|
NM_000169.3(GLA):c.370-530_1279del
|
|
|
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)
|
rs104894845
|
|
NM_000169.3(GLA):c.436C>T (p.Pro146Ser)
|
rs104894837
|
|
NM_000169.3(GLA):c.466G>A (p.Ala156Thr)
|
rs28935195
|
|
NM_000169.3(GLA):c.484T>C (p.Trp162Arg)
|
rs28935196
|
|
NM_000169.3(GLA):c.606T>G (p.Cys202Trp)
|
rs104894838
|
|
NM_000169.3(GLA):c.666C>A (p.Tyr222Ter)
|
rs104894851
|
|
NM_000169.3(GLA):c.680G>A (p.Arg227Gln)
|
rs104894840
|
|
NM_000169.3(GLA):c.774_775del (p.Pro259fs)
|
rs869312398
|
|
NM_000169.3(GLA):c.791A>T (p.Asp264Val)
|
rs28935486
|
|
NM_000169.3(GLA):c.797A>T (p.Asp266Val)
|
rs28935487
|
|
NM_000169.3(GLA):c.802-3_802-2del
|
rs797044498
|
|
NM_000169.3(GLA):c.806T>C (p.Val269Ala)
|
rs28935488
|
|
NM_000169.3(GLA):c.815A>G (p.Asn272Ser)
|
rs28935495
|
|
NM_000169.3(GLA):c.861G>A (p.Trp287Ter)
|
rs104894839
|
|
NM_000169.3(GLA):c.890C>T (p.Ser297Phe)
|
rs28935489
|
|
NM_000169.3(GLA):c.902G>A (p.Arg301Gln)
|
rs104894828
|
|
NM_000169.3(GLA):c.950_954dup (p.Ile319fs)
|
rs1603038220
|
|
NM_000169.3(GLA):c.979C>A (p.Gln327Lys)
|
rs28935491
|
|
NM_000169.3(GLA):c.982G>A (p.Gly328Arg)
|
rs104894832
|
|
NM_000169.3(GLA):c.983G>C (p.Gly328Ala)
|
rs28935492
|
|
NM_000169.3(GLA):c.999+1G>T
|
rs1603038103
|
|
NM_000169.3(GLA):c.[370-183_547+41del;370-192A>C]
|
|
|