NM_001127453.2(GSDME):c.*537C>T
|
rs117584512
|
0.00086
|
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.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.1121C>T (p.Pro374Leu)
|
rs142107866
|
0.00004
|
NM_001127453.2(GSDME):c.75G>T (p.Leu25=)
|
rs767060533
|
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_004403.3(GSDME):c.-216C>T
|
rs886062228
|
0.00003
|
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.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.766G>A (p.Asp256Asn)
|
rs763468767
|
0.00001
|
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.*583T>G
|
rs886062222
|
|
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.1253A>G (p.His418Arg)
|
rs886062225
|
|
NM_001127453.2(GSDME):c.1441C>A (p.Leu481Ile)
|
|
|
NM_001127453.2(GSDME):c.212-1G>A
|
rs1790597003
|
|
NM_001127453.2(GSDME):c.275T>G (p.Leu92Arg)
|
rs865905505
|
|
NM_001127453.2(GSDME):c.314dup (p.Ser106fs)
|
rs755613828
|
|
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.685G>A (p.Asp229Asn)
|
rs775179954
|
|
NM_001127453.2(GSDME):c.725G>A (p.Gly242Asp)
|
|
|
NM_001127453.2(GSDME):c.868del (p.Leu290fs)
|
|
|
NM_004403.3(GSDME):c.-235C>T
|
rs886062229
|
|