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.619G>A (p.Val207Met)
|
rs12540919
|
0.07873
|
NM_001127453.2(GSDME):c.863-6T>C
|
rs55735863
|
0.03926
|
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val)
|
rs71535705
|
0.01715
|
NM_001127453.2(GSDME):c.577-15C>T
|
rs11970787
|
0.00666
|
NM_004403.3(GSDME):c.521T>C (p.Met174Thr)
|
rs876306
|
0.00242
|
NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser)
|
rs140666247
|
0.00179
|
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.1208T>C (p.Leu403Pro)
|
rs199971778
|
0.00036
|
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter)
|
rs200758965
|
0.00032
|
NM_001127453.2(GSDME):c.1118G>A (p.Gly373Asp)
|
rs146399987
|
0.00031
|
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn)
|
rs148716975
|
0.00016
|
NM_001127453.2(GSDME):c.1183+9A>T
|
rs397516910
|
0.00014
|
NM_001127453.2(GSDME):c.830C>T (p.Ser277Phe)
|
rs375794218
|
0.00010
|
NM_001127453.2(GSDME):c.87T>A (p.Asp29Glu)
|
rs148370267
|
0.00010
|
NM_001127453.2(GSDME):c.1179C>T (p.Leu393=)
|
rs368035633
|
0.00007
|
NM_001127453.2(GSDME):c.587C>T (p.Thr196Met)
|
rs183361282
|
0.00005
|
NM_001127453.2(GSDME):c.686dup (p.Asp229fs)
|
rs777408599
|
0.00005
|
NM_001127453.2(GSDME):c.553G>A (p.Gly185Ser)
|
rs376265514
|
0.00003
|
NM_001127453.2(GSDME):c.687C>T (p.Asp229=)
|
rs371054976
|
0.00003
|
NM_001127453.2(GSDME):c.1017G>A (p.Ser339=)
|
rs201545458
|
0.00002
|
NM_001127453.2(GSDME):c.1197C>T (p.Ser399=)
|
rs778523430
|
0.00002
|
NM_001127453.2(GSDME):c.405-12T>C
|
rs202246404
|
0.00002
|
NM_001127453.2(GSDME):c.1218T>C (p.Thr406=)
|
rs727505338
|
0.00001
|
NM_001127453.2(GSDME):c.1331G>T (p.Arg444Met)
|
rs780683974
|
0.00001
|
NM_001127453.2(GSDME):c.826T>C (p.Ser276Pro)
|
rs727502954
|
0.00001
|
NM_001127453.2(GSDME):c.969A>G (p.Leu323=)
|
rs397516911
|
0.00001
|
NM_004403.3(GSDME):c.862+10dup
|
rs730880353
|
0.00001
|
NM_001127453.2(GSDME):c.1183+5G>A
|
rs777359423
|
|
NM_001127453.2(GSDME):c.1213G>A (p.Gly405Ser)
|
rs566450742
|
|
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.1355T>C (p.Phe452Ser)
|
rs727502953
|
|
NM_001127453.2(GSDME):c.1416G>A (p.Lys472=)
|
rs727504956
|
|
NM_001127453.2(GSDME):c.212-6T>A
|
rs876657773
|
|
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr)
|
rs754554
|
|
NM_001127453.2(GSDME):c.656A>G (p.Tyr219Cys)
|
rs1554325967
|
|
NM_001127453.2(GSDME):c.938T>C (p.Ile313Thr)
|
rs1584052885
|
|
NM_001127453.2(GSDME):c.991T>C (p.Cys331Arg)
|
rs373787249
|
|
NM_004403.3(GSDME):c.119dup (p.Lys41fs)
|
rs758488919
|
|
NM_004403.3(GSDME):c.781C>T (p.Arg261Ter)
|
rs200205042
|
|