NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_000169.3(GLA):c.640-801G>A
|
rs199473684
|
0.00005
|
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
|
NM_000169.3(GLA):c.706T>C (p.Trp236Arg)
|
rs1555985148
|
0.00001
|
NC_000023.11:g.(?_101397790)_(101398947_101400665)del
|
|
|
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.1021G>A (p.Glu341Lys)
|
rs869312214
|
|
NM_000169.3(GLA):c.1021G>T (p.Glu341Ter)
|
rs869312214
|
|
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)
|
rs104894843
|
|
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs)
|
rs398123198
|
|
NM_000169.3(GLA):c.1046G>A (p.Trp349Ter)
|
rs869312218
|
|
NM_000169.3(GLA):c.1055_1056del (p.Ala352fs)
|
rs1555984840
|
|
NM_000169.3(GLA):c.1072_1074del (p.Glu358del)
|
rs730880453
|
|
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)
|
rs727504348
|
|
NM_000169.3(GLA):c.1118G>A (p.Gly373Asp)
|
rs869312227
|
|
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.1225C>G (p.Pro409Ala)
|
rs878853698
|
|
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs)
|
rs797044777
|
|
NM_000169.3(GLA):c.1244T>C (p.Leu415Pro)
|
rs112341092
|
|
NM_000169.3(GLA):c.128G>T (p.Gly43Val)
|
rs1928583820
|
|
NM_000169.3(GLA):c.136C>T (p.His46Tyr)
|
rs1928582757
|
|
NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu)
|
rs1569306036
|
|
NM_000169.3(GLA):c.167G>A (p.Cys56Tyr)
|
rs869312258
|
|
NM_000169.3(GLA):c.169C>T (p.Gln57Ter)
|
rs869312259
|
|
NM_000169.3(GLA):c.242G>C (p.Trp81Ser)
|
rs398123208
|
|
NM_000169.3(GLA):c.26del (p.His9fs)
|
rs1555987215
|
|
NM_000169.3(GLA):c.273_276dup (p.Asp93Ter)
|
rs1928406808
|
|
NM_000169.3(GLA):c.274G>C (p.Asp92His)
|
rs886041315
|
|
NM_000169.3(GLA):c.295C>T (p.Gln99Ter)
|
rs868937910
|
|
NM_000169.3(GLA):c.2T>C (p.Met1Thr)
|
rs1555987232
|
|
NM_000169.3(GLA):c.307G>T (p.Glu103Ter)
|
rs1569304851
|
|
NM_000169.3(GLA):c.334C>T (p.Arg112Cys)
|
rs104894834
|
|
NM_000169.3(GLA):c.337T>C (p.Phe113Leu)
|
rs869312142
|
|
NM_000169.3(GLA):c.350T>G (p.Ile117Ser)
|
rs12392549
|
|
NM_000169.3(GLA):c.355C>T (p.Gln119Ter)
|
rs2147480438
|
|
NM_000169.3(GLA):c.369+1G>A
|
rs797044669
|
|
NM_000169.3(GLA):c.370-532_1278del
|
|
|
NM_000169.3(GLA):c.379A>T (p.Lys127Ter)
|
rs2147477845
|
|
NM_000169.3(GLA):c.386T>C (p.Leu129Pro)
|
rs727503072
|
|
NM_000169.3(GLA):c.402T>G (p.Tyr134Ter)
|
rs1183869568
|
|
NM_000169.3(GLA):c.404C>T (p.Ala135Val)
|
rs1569304221
|
|
NM_000169.3(GLA):c.406G>T (p.Asp136Tyr)
|
rs1928326804
|
|
NM_000169.3(GLA):c.413G>A (p.Gly138Glu)
|
rs1928326107
|
|
NM_000169.3(GLA):c.422C>T (p.Thr141Ile)
|
rs886044843
|
|
NM_000169.3(GLA):c.426C>A (p.Cys142Ter)
|
|
|
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)
|
rs104894845
|
|
NM_000169.3(GLA):c.439G>A (p.Gly147Arg)
|
rs1555985830
|
|
NM_000169.3(GLA):c.444T>G (p.Ser148Arg)
|
rs1569304190
|
|
NM_000169.3(GLA):c.485G>A (p.Trp162Ter)
|
rs727504350
|
|
NM_000169.3(GLA):c.4C>T (p.Gln2Ter)
|
rs869312313
|
|
NM_000169.3(GLA):c.547G>A (p.Gly183Ser)
|
rs869312324
|
|
NM_000169.3(GLA):c.559_560del (p.Met187fs)
|
rs1928287177
|
|
NM_000169.3(GLA):c.640-1G>A
|
rs398123216
|
|
NM_000169.3(GLA):c.646dup (p.Tyr216fs)
|
rs1928199153
|
|
NM_000169.3(GLA):c.658C>T (p.Arg220Ter)
|
rs727503949
|
|
NM_000169.3(GLA):c.661C>T (p.Gln221Ter)
|
rs797044747
|
|
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr)
|
rs869312382
|
|
NM_000169.3(GLA):c.671A>G (p.Asn224Ser)
|
rs869312383
|
|
NM_000169.3(GLA):c.680G>A (p.Arg227Gln)
|
rs104894840
|
|
NM_000169.3(GLA):c.713G>A (p.Ser238Asn)
|
rs730880450
|
|
NM_000169.3(GLA):c.718_719del (p.Lys240fs)
|
rs869312389
|
|
NM_000169.3(GLA):c.723dup (p.Ile242fs)
|
rs869312391
|
|
NM_000169.3(GLA):c.734G>A (p.Trp245Ter)
|
rs398123220
|
|
NM_000169.3(GLA):c.748C>T (p.Gln250Ter)
|
rs398123221
|
|
NM_000169.3(GLA):c.751G>T (p.Glu251Ter)
|
rs1928189534
|
|
NM_000169.3(GLA):c.782G>A (p.Gly261Asp)
|
rs869312401
|
|
NM_000169.3(GLA):c.782G>T (p.Gly261Val)
|
rs869312401
|
|
NM_000169.3(GLA):c.790G>T (p.Asp264Tyr)
|
rs190347120
|
|
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.801+3A>G
|
rs797044748
|
|
NM_000169.3(GLA):c.805G>A (p.Val269Met)
|
rs869312427
|
|
NM_000169.3(GLA):c.830G>A (p.Trp277Ter)
|
rs886044766
|
|
NM_000169.3(GLA):c.851T>C (p.Met284Thr)
|
rs1928171557
|
|
NM_000169.3(GLA):c.85dup (p.Ala29fs)
|
rs1569306181
|
|
NM_000169.3(GLA):c.884T>G (p.Phe295Cys)
|
rs1928168711
|
|
NM_000169.3(GLA):c.894T>A (p.Asn298Lys)
|
rs869312444
|
|
NM_000169.3(GLA):c.899T>C (p.Leu300Pro)
|
rs398123223
|
|
NM_000169.3(GLA):c.901C>G (p.Arg301Gly)
|
rs398123224
|
|
NM_000169.3(GLA):c.901C>T (p.Arg301Ter)
|
rs398123224
|
|
NM_000169.3(GLA):c.902G>A (p.Arg301Gln)
|
rs104894828
|
|
NM_000169.3(GLA):c.962A>G (p.Gln321Arg)
|
rs1928161905
|
|
NM_000169.3(GLA):c.966C>A (p.Asp322Glu)
|
rs398123226
|
|
NM_000169.3(GLA):c.969del (p.Leu324fs)
|
rs2147471863
|
|
NM_000169.3(GLA):c.994dup (p.Arg332fs)
|
rs1569302887
|
|
NM_000169.3(GLA):c.999+2T>C
|
rs886044860
|
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+3109_300+3112del
|
rs869312426
|
|