NM_000399.5(EGR2):c.627= (p.Pro209=)
|
rs224083
|
0.98414
|
NM_006158.5(NEFL):c.*1256G>A
|
rs2979704
|
0.77789
|
NM_000304.4(PMP22):c.178+22A>G
|
rs231020
|
0.59479
|
NM_000304.4(PMP22):c.179-83T>C
|
rs230950
|
0.56915
|
NM_000304.4(PMP22):c.*59A>C
|
rs13422
|
0.56905
|
NM_006158.5(NEFL):c.*687G>C
|
rs2976439
|
0.53745
|
NM_006158.5(NEFL):c.*426G>A
|
rs73546943
|
0.06709
|
NM_000304.4(PMP22):c.319+33C>T
|
rs3744333
|
0.06039
|
NM_000399.5(EGR2):c.1086A>C (p.Arg362=)
|
rs45602133
|
0.04462
|
NM_000530.8(MPZ):c.684C>T (p.Ser228=)
|
rs34307129
|
0.01960
|
NM_000304.4(PMP22):c.-34-216C>T
|
rs151105938
|
0.01865
|
NM_000530.8(MPZ):c.600G>A (p.Gly200=)
|
rs16832790
|
0.01850
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_000304.4(PMP22):c.-74A>G
|
rs114365663
|
0.01441
|
NM_000399.5(EGR2):c.169+10G>T
|
rs114201658
|
0.00953
|
NM_000304.4(PMP22):c.-86A>C
|
rs140650630
|
0.00832
|
NM_000304.4(PMP22):c.396C>T (p.Tyr132=)
|
rs74361095
|
0.00743
|
NM_000304.4(PMP22):c.179-17G>A
|
rs77406217
|
0.00621
|
NM_000304.4(PMP22):c.*912G>A
|
rs149070440
|
0.00366
|
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr)
|
rs141094419
|
0.00278
|
NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro)
|
rs146116229
|
0.00148
|
NM_000399.5(EGR2):c.909A>C (p.Ala303=)
|
rs112474655
|
0.00101
|
NM_000399.5(EGR2):c.246C>G (p.Val82=)
|
rs144217451
|
0.00078
|
NM_000530.8(MPZ):c.504G>A (p.Val168=)
|
rs145592910
|
0.00074
|
NM_000304.4(PMP22):c.79-6C>T
|
rs201682989
|
0.00069
|
NM_000304.4(PMP22):c.*200T>G
|
rs142106420
|
0.00063
|
NM_000304.4(PMP22):c.*173C>T
|
rs117277951
|
0.00044
|
NM_000399.5(EGR2):c.534A>G (p.Ala178=)
|
rs370084216
|
0.00030
|
NM_000399.5(EGR2):c.174C>T (p.Gly58=)
|
rs143793213
|
0.00024
|
NM_000304.4(PMP22):c.*890C>T
|
rs546778557
|
0.00006
|
NM_000304.4(PMP22):c.152A>G (p.His51Arg)
|
rs368908933
|
0.00005
|
NM_000399.5(EGR2):c.665T>C (p.Met222Thr)
|
rs530614586
|
0.00004
|
NM_000304.4(PMP22):c.*376C>T
|
rs575964802
|
|
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272
|
|
NM_000530.8(MPZ):c.*901GA[7]
|
rs149030537
|
|
NM_001136472.2(LITAF):c.*582dup
|
rs71406254
|
|
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598
|
|
NM_006158.5(NEFL):c.*235A>T
|
rs1059111
|
|