NM_001127453.2(GSDME):c.447A>G (p.Glu149=)
|
rs876305
|
0.56409
|
NM_001127453.2(GSDME):c.405-15G>A
|
rs754553
|
0.18061
|
NM_001127453.2(GSDME):c.489G>A (p.Thr163=)
|
rs754555
|
0.17320
|
NM_001127453.2(GSDME):c.1200A>G (p.Ala400=)
|
rs17149912
|
0.16349
|
NM_001127453.2(GSDME):c.*481G>C
|
rs12979
|
0.12626
|
NM_001127453.2(GSDME):c.619G>A (p.Val207Met)
|
rs12540919
|
0.07873
|
NM_001127453.2(GSDME):c.*527C>T
|
rs6957782
|
0.07350
|
NM_001127453.2(GSDME):c.*273C>T
|
rs17149888
|
0.07118
|
NM_001127453.2(GSDME):c.863-6T>C
|
rs55735863
|
0.03926
|
NM_001127453.2(GSDME):c.*30C>T
|
rs17274530
|
0.03910
|
NM_001127453.2(GSDME):c.*87A>G
|
rs10266655
|
0.02589
|
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val)
|
rs71535705
|
0.01715
|
NM_001127453.2(GSDME):c.*448T>C
|
rs144061292
|
0.01358
|
NM_001127453.2(GSDME):c.577-15C>T
|
rs11970787
|
0.00666
|
NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser)
|
rs140666247
|
0.00179
|
NM_001127453.2(GSDME):c.*321T>G
|
rs573722628
|
0.00163
|
NM_001127453.2(GSDME):c.*72C>T
|
rs115865539
|
0.00162
|
NM_004403.2(GSDME):c.-329G>A
|
rs149380955
|
0.00115
|
NM_001127453.2(GSDME):c.528C>T (p.Val176=)
|
rs138741730
|
0.00105
|
NM_001127453.2(GSDME):c.*537C>T
|
rs117584512
|
0.00086
|
NM_001127453.2(GSDME):c.864G>A (p.Ala288=)
|
rs144358787
|
0.00076
|
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)
|
rs138980048
|
0.00043
|
NM_001127453.2(GSDME):c.*346G>C
|
rs144928530
|
0.00038
|
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)
|
rs199971778
|
0.00036
|
NM_001127453.2(GSDME):c.*24G>A
|
rs199887441
|
0.00024
|
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn)
|
rs148716975
|
0.00016
|
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile)
|
rs202227661
|
0.00015
|
NM_001127453.2(GSDME):c.1183+9A>T
|
rs397516910
|
0.00014
|
NM_001127453.2(GSDME):c.635C>T (p.Pro212Leu)
|
rs145754170
|
0.00009
|
NM_001127453.2(GSDME):c.1179C>T (p.Leu393=)
|
rs368035633
|
0.00007
|
NM_001127453.2(GSDME):c.577-12T>G
|
rs752065719
|
0.00006
|
NM_001127453.2(GSDME):c.782G>A (p.Arg261Gln)
|
rs550014047
|
0.00006
|
NM_001127453.2(GSDME):c.*429T>C
|
rs538502935
|
0.00005
|
NM_001127453.2(GSDME):c.584C>T (p.Ala195Val)
|
rs534396774
|
0.00005
|
NM_001127453.2(GSDME):c.1121C>T (p.Pro374Leu)
|
rs142107866
|
0.00004
|
NM_001127453.2(GSDME):c.75G>T (p.Leu25=)
|
rs767060533
|
0.00004
|
NM_001127453.2(GSDME):c.906G>A (p.Leu302=)
|
rs141596134
|
0.00004
|
NM_001127453.2(GSDME):c.1156G>A (p.Ala386Thr)
|
rs371802634
|
0.00003
|
NM_001127453.2(GSDME):c.611A>T (p.Asp204Val)
|
rs376564087
|
0.00003
|
NM_001127453.2(GSDME):c.405-12T>C
|
rs202246404
|
0.00002
|
NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys)
|
rs148449230
|
0.00002
|
NM_001127453.2(GSDME):c.480G>C (p.Gln160His)
|
rs546120306
|
0.00002
|
NM_001127453.2(GSDME):c.*607A>G
|
rs886062221
|
0.00001
|
NM_001127453.2(GSDME):c.1349G>A (p.Arg450His)
|
rs764724618
|
0.00001
|
NM_001127453.2(GSDME):c.225G>A (p.Ser75=)
|
rs191022542
|
0.00001
|
NM_001127453.2(GSDME):c.247A>G (p.Lys83Glu)
|
rs777453610
|
0.00001
|
NM_001127453.2(GSDME):c.294G>A (p.Lys98=)
|
rs1385224336
|
0.00001
|
NM_001127453.2(GSDME):c.430C>A (p.Leu144Ile)
|
rs1562697643
|
0.00001
|
NM_001127453.2(GSDME):c.544G>A (p.Gly182Ser)
|
rs745411723
|
0.00001
|
NM_001127453.2(GSDME):c.612C>T (p.Asp204=)
|
rs551846110
|
0.00001
|
NM_001127453.2(GSDME):c.766G>A (p.Asp256Asn)
|
rs763468767
|
0.00001
|
NM_001127453.2(GSDME):c.772C>T (p.Leu258=)
|
rs886062226
|
0.00001
|
NM_001127453.2(GSDME):c.*224_*227dup
|
rs886062224
|
|
NM_001127453.2(GSDME):c.*239T>C
|
rs1788738667
|
|
NM_001127453.2(GSDME):c.*260A>G
|
rs886062223
|
|
NM_001127453.2(GSDME):c.*299A>G
|
rs577672103
|
|
NM_001127453.2(GSDME):c.*326C>A
|
rs554412975
|
|
NM_001127453.2(GSDME):c.*333T>G
|
rs534617327
|
|
NM_001127453.2(GSDME):c.*481_*485dup
|
rs201456060
|
|
NM_001127453.2(GSDME):c.*505del
|
rs77276759
|
|
NM_001127453.2(GSDME):c.*583T>G
|
rs886062222
|
|
NM_001127453.2(GSDME):c.*81T>G
|
rs541774350
|
|
NM_001127453.2(GSDME):c.1016C>G (p.Ser339Trp)
|
rs755785416
|
|
NM_001127453.2(GSDME):c.1193_1196dup (p.Ser399delinsArgTer)
|
rs757421220
|
|
NM_001127453.2(GSDME):c.119AGA[1] (p.Lys41del)
|
rs748682263
|
|
NM_001127453.2(GSDME):c.1253A>G (p.His418Arg)
|
rs886062225
|
|
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)
|
rs374353052
|
|
NM_001127453.2(GSDME):c.1334T>A (p.Phe445Tyr)
|
rs61731036
|
|
NM_001127453.2(GSDME):c.1348C>T (p.Arg450Cys)
|
rs151328414
|
|
NM_001127453.2(GSDME):c.275T>G (p.Leu92Arg)
|
rs865905505
|
|
NM_001127453.2(GSDME):c.356G>A (p.Arg119Lys)
|
rs1349632914
|
|
NM_001127453.2(GSDME):c.358A>C (p.Lys120Gln)
|
rs886062227
|
|
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr)
|
rs754554
|
|
NM_001127453.2(GSDME):c.685G>A (p.Asp229Asn)
|
rs775179954
|
|
NM_001127453.2(GSDME):c.939C>T (p.Ile313=)
|
rs556679282
|
|
NM_004403.2(GSDME):c.-345delG
|
rs138173985
|
|