NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602
|
0.00086
|
NM_000399.5(EGR2):c.*646C>T
|
rs555024997
|
0.00047
|
NM_000530.8(MPZ):c.*752G>A
|
rs533147214
|
0.00034
|
NM_000530.8(MPZ):c.*341A>G
|
rs557613782
|
0.00033
|
NM_000530.8(MPZ):c.*435T>G
|
rs868502674
|
0.00026
|
NM_001136472.2(LITAF):c.*500A>G
|
rs767760361
|
0.00024
|
NM_006158.5(NEFL):c.*1744T>C
|
rs886062825
|
0.00022
|
NM_001136472.2(LITAF):c.*1364A>C
|
rs775642546
|
0.00019
|
NM_001136472.2(LITAF):c.-6+539G>A
|
rs545189325
|
0.00016
|
NM_001136472.2(LITAF):c.-6+657C>A
|
rs374282727
|
0.00013
|
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
|
rs758191113
|
0.00013
|
NM_001136472.2(LITAF):c.*1054A>C
|
rs967890581
|
0.00010
|
NM_001136472.2(LITAF):c.*598G>A
|
rs367546754
|
0.00010
|
NM_000399.5(EGR2):c.*618T>C
|
rs748486219
|
0.00009
|
NM_000530.8(MPZ):c.*1020G>A
|
rs886045472
|
0.00007
|
NM_000530.8(MPZ):c.*102C>T
|
rs774748921
|
0.00007
|
NM_001136472.2(LITAF):c.*1879A>G
|
rs760630375
|
0.00006
|
NM_001136472.2(LITAF):c.310G>A (p.Val104Met)
|
rs373445989
|
0.00006
|
NM_006158.5(NEFL):c.*1101G>A
|
rs527471303
|
0.00006
|
NM_000530.8(MPZ):c.*681A>T
|
rs886045474
|
0.00005
|
NM_001136472.2(LITAF):c.*882G>A
|
rs535657236
|
0.00005
|
NM_001136472.2(LITAF):c.477G>A (p.Lys159=)
|
rs371453151
|
0.00005
|
NM_000530.8(MPZ):c.428C>T (p.Thr143Met)
|
rs750724650
|
0.00004
|
NM_001136472.2(LITAF):c.*193G>A
|
rs886051652
|
0.00004
|
NM_006158.5(NEFL):c.*1464A>G
|
rs773097050
|
0.00004
|
NM_006158.5(NEFL):c.*1482C>T
|
rs886062827
|
0.00004
|
NM_006158.5(NEFL):c.*51A>G
|
rs538082598
|
0.00004
|
NM_000399.5(EGR2):c.*919G>C
|
rs886047087
|
0.00003
|
NM_001136472.2(LITAF):c.457G>A (p.Ala153Thr)
|
rs543022814
|
0.00003
|
NM_006158.5(NEFL):c.564C>G (p.Ala188=)
|
rs1457926450
|
0.00003
|
NM_000399.5(EGR2):c.918C>T (p.Ala306=)
|
rs886047094
|
0.00002
|
NM_000530.8(MPZ):c.*522C>A
|
rs900816889
|
0.00002
|
NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr)
|
rs759905004
|
0.00002
|
NM_006158.5(NEFL):c.*1383C>T
|
rs1172304666
|
0.00002
|
NM_006158.5(NEFL):c.45G>A (p.Lys15=)
|
rs62636518
|
0.00002
|
NM_000399.5(EGR2):c.*655G>A
|
rs886047089
|
0.00001
|
NM_000399.5(EGR2):c.*79C>A
|
rs1310299341
|
0.00001
|
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe)
|
rs886047095
|
0.00001
|
NM_000399.5(EGR2):c.924C>T (p.Ala308=)
|
rs886047093
|
0.00001
|
NM_000530.8(MPZ):c.*1074A>C
|
rs886045471
|
0.00001
|
NM_000530.8(MPZ):c.*369C>T
|
rs1359055917
|
0.00001
|
NM_000530.8(MPZ):c.*903G>A
|
rs1489097338
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
NM_001136472.2(LITAF):c.*1170A>G
|
rs886051648
|
0.00001
|
NM_001136472.2(LITAF):c.*1422A>G
|
rs1005760992
|
0.00001
|
NM_001136472.2(LITAF):c.386C>T (p.Ala129Val)
|
rs201512884
|
0.00001
|
NM_001136472.2(LITAF):c.88A>T (p.Asn30Tyr)
|
rs368574479
|
0.00001
|
NM_006158.5(NEFL):c.*171C>G
|
rs886062834
|
0.00001
|
NM_006158.5(NEFL):c.*856T>C
|
rs886062831
|
0.00001
|
NM_006158.5(NEFL):c.141G>A (p.Val47=)
|
rs886062835
|
0.00001
|
NM_000399.5(EGR2):c.*145T>A
|
rs886047091
|
|
NM_000399.5(EGR2):c.*150A>G
|
rs1055794746
|
|
NM_000399.5(EGR2):c.*230G>T
|
rs1842147977
|
|
NM_000399.5(EGR2):c.*456G>A
|
rs886047090
|
|
NM_000399.5(EGR2):c.-299G>A
|
rs1842269401
|
|
NM_000399.5(EGR2):c.-64A>C
|
rs1842261380
|
|
NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly)
|
rs886047092
|
|
NM_000530.8(MPZ):c.*251C>G
|
rs772995394
|
|
NM_000530.8(MPZ):c.*954C>A
|
rs372340608
|
|
NM_000530.8(MPZ):c.184A>G (p.Ile62Val)
|
rs121913602
|
|
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)
|
rs1670257548
|
|
NM_001136472.2(LITAF):c.*1217A>C
|
rs942172049
|
|
NM_001136472.2(LITAF):c.*1386G>A
|
rs184312185
|
|
NM_001136472.2(LITAF):c.*1399C>A
|
rs774513067
|
|
NM_001136472.2(LITAF):c.*1436T>G
|
rs2064132273
|
|
NM_001136472.2(LITAF):c.*1557C>A
|
rs886051647
|
|
NM_001136472.2(LITAF):c.*234C>A
|
rs1370604103
|
|
NM_001136472.2(LITAF):c.*294A>T
|
rs886051651
|
|
NM_001136472.2(LITAF):c.*33G>A
|
rs766852963
|
|
NM_001136472.2(LITAF):c.*563A>C
|
rs2064145331
|
|
NM_001136472.2(LITAF):c.*723A>G
|
rs886051650
|
|
NM_001136472.2(LITAF):c.*949A>G
|
rs886051649
|
|
NM_001136472.2(LITAF):c.-6+513G>C
|
rs2064807880
|
|
NM_001136472.2(LITAF):c.-6+618C>G
|
rs962811879
|
|
NM_001136472.2(LITAF):c.158G>C (p.Gly53Ala)
|
rs886051654
|
|
NM_001136472.2(LITAF):c.159G>A (p.Gly53=)
|
rs886051653
|
|
NM_001136472.2(LITAF):c.368G>A (p.Cys123Tyr)
|
rs2064215812
|
|
NM_006158.4(NEFL):c.-248C>G
|
rs927020136
|
|
NM_006158.4(NEFL):c.-258C>G
|
rs769348830
|
|
NM_006158.5(NEFL):c.*1153T>G
|
rs1802971132
|
|
NM_006158.5(NEFL):c.*1342A>G
|
rs886062830
|
|
NM_006158.5(NEFL):c.*1349T>G
|
rs886062828
|
|
NM_006158.5(NEFL):c.*577T>C
|
rs886062832
|
|
NM_006158.5(NEFL):c.-68T>A
|
rs886062836
|
|
NM_006158.5(NEFL):c.516C>T (p.Arg172=)
|
rs1803046250
|
|
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)
|
rs1797704362
|
|
NM_006158.5(NEFL):c.717G>A (p.Gln239=)
|
rs1803041188
|
|