NM_000601.6(HGF):c.*396A>T
|
rs182057547
|
0.00320
|
NM_000601.6(HGF):c.137C>T (p.Ala46Val)
|
rs150267054
|
0.00139
|
NM_004403.2(GSDME):c.-329G>A
|
rs149380955
|
0.00115
|
NM_000601.5(HGF):c.-94G>T
|
rs5745609
|
0.00111
|
NM_002241.4(KCNJ10):c.-183C>T
|
rs374287142
|
0.00047
|
NM_002241.4(KCNJ10):c.-168C>A
|
rs886045413
|
0.00022
|
NM_000601.6(HGF):c.471A>G (p.Pro157=)
|
rs142045938
|
0.00015
|
NM_002241.5(KCNJ10):c.*52G>A
|
rs148441646
|
0.00007
|
NM_000601.6(HGF):c.4T>C (p.Trp2Arg)
|
rs375901177
|
0.00006
|
NM_001127453.2(GSDME):c.782G>A (p.Arg261Gln)
|
rs550014047
|
0.00006
|
NM_002241.5(KCNJ10):c.*783A>G
|
rs886045409
|
0.00006
|
NM_000601.6(HGF):c.*101A>G
|
rs886062456
|
0.00003
|
NM_000601.6(HGF):c.1765G>A (p.Val589Ile)
|
rs538415452
|
0.00003
|
NM_002241.5(KCNJ10):c.*2675_*2676del
|
rs886045398
|
0.00003
|
NM_005219.5(DIAPH1):c.1287G>C (p.Gln429His)
|
rs748159908
|
0.00003
|
NM_000601.6(HGF):c.-44A>G
|
rs758149409
|
0.00002
|
NM_000601.6(HGF):c.1904A>G (p.Tyr635Cys)
|
rs565056780
|
0.00001
|
NM_000601.6(HGF):c.438C>A (p.Gly146=)
|
rs886062457
|
0.00001
|
NM_000601.6(HGF):c.88+9C>T
|
rs199638850
|
0.00001
|
NM_001127453.2(GSDME):c.*607A>G
|
rs886062221
|
0.00001
|
NM_001127453.2(GSDME):c.772C>T (p.Leu258=)
|
rs886062226
|
0.00001
|
NM_002241.5(KCNJ10):c.*2530G>C
|
rs886045400
|
0.00001
|
NM_000601.6(HGF):c.-40A>T
|
rs28719812
|
|
NM_000601.6(HGF):c.1041-6C>T
|
rs371103859
|
|
NM_000601.6(HGF):c.147C>G (p.Thr49=)
|
rs886062458
|
|
NM_000601.6(HGF):c.1715A>G (p.Tyr572Cys)
|
rs766769838
|
|
NM_000601.6(HGF):c.800C>T (p.Pro267Leu)
|
rs771889279
|
|
NM_000601.6(HGF):c.921A>C (p.Gln307His)
|
rs774508303
|
|
NM_001127453.2(GSDME):c.*224_*227dup
|
rs886062224
|
|
NM_001127453.2(GSDME):c.119AGA[1] (p.Lys41del)
|
rs748682263
|
|
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)
|
rs374353052
|
|
NM_002241.5(KCNJ10):c.*1970GT[21]
|
rs56656397
|
|
NM_002241.5(KCNJ10):c.*1970GT[22]
|
rs56656397
|
|
NM_002241.5(KCNJ10):c.*1970GT[24]
|
rs56656397
|
|
NM_002241.5(KCNJ10):c.*1970GT[27]
|
rs56656397
|
|
NM_002241.5(KCNJ10):c.*1970GT[28]
|
rs56656397
|
|
NM_002241.5(KCNJ10):c.*2459T>G
|
rs532869749
|
|
NM_005219.5(DIAPH1):c.*1703AG[6]
|
rs142402193
|
|
NM_005219.5(DIAPH1):c.*1765_*1766dup
|
rs539203577
|
|
NM_005219.5(DIAPH1):c.*932dup
|
rs550954506
|
|
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del)
|
rs3075570
|
|
NM_005219.5(DIAPH1):c.402+12del
|
rs555848272
|
|
NM_012188.5(FOXI1):c.965_967del (p.Phe322del)
|
rs886060400
|
|