NM_006158.5(NEFL):c.*1256G>A
|
rs2979704
|
0.77789
|
NM_000304.4(PMP22):c.*59A>C
|
rs13422
|
0.56905
|
NM_006158.5(NEFL):c.*687G>C
|
rs2976439
|
0.53745
|
NM_000304.4(PMP22):c.*577T>C
|
rs7538
|
0.20549
|
NM_006158.5(NEFL):c.*1107C>T
|
rs3761
|
0.10372
|
NM_006158.5(NEFL):c.1170-13T>C
|
rs76347846
|
0.08329
|
NM_006158.5(NEFL):c.*1643G>A
|
rs8077
|
0.08320
|
NM_006158.5(NEFL):c.*426G>A
|
rs73546943
|
0.06709
|
NM_000304.4(PMP22):c.*828G>A
|
rs13027
|
0.06019
|
NM_000304.4(PMP22):c.*228G>A
|
rs1804193
|
0.05698
|
NM_006158.5(NEFL):c.*378A>G
|
rs17052849
|
0.04877
|
NM_000304.4(PMP22):c.*1111G>T
|
rs7415
|
0.04701
|
NM_006158.5(NEFL):c.*1100C>T
|
rs79736124
|
0.03959
|
NM_001136472.2(LITAF):c.-6+681dup
|
rs398100090
|
0.02035
|
NM_000304.4(PMP22):c.*1120T>C
|
rs11654383
|
0.01749
|
NM_006158.5(NEFL):c.*883G>C
|
rs76387248
|
0.01696
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_000304.4(PMP22):c.-74A>G
|
rs114365663
|
0.01441
|
NM_000304.4(PMP22):c.-86A>C
|
rs140650630
|
0.00832
|
NM_006158.5(NEFL):c.*1155T>G
|
rs116881703
|
0.00773
|
NM_006158.5(NEFL):c.667C>T (p.Leu223=)
|
rs60156239
|
0.00494
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000304.4(PMP22):c.*912G>A
|
rs149070440
|
0.00366
|
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr)
|
rs141094419
|
0.00278
|
NM_006158.5(NEFL):c.*485A>G
|
rs145103399
|
0.00252
|
NM_000304.4(PMP22):c.-141C>G
|
rs560442424
|
0.00204
|
NM_001136472.2(LITAF):c.*686C>T
|
rs190484543
|
0.00202
|
NM_001136472.2(LITAF):c.*68G>A
|
rs189101115
|
0.00186
|
NM_000304.4(PMP22):c.*205C>A
|
rs189734097
|
0.00154
|
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_000304.4(PMP22):c.*542C>T
|
rs184928176
|
0.00042
|
NM_000304.4(PMP22):c.-34-5C>T
|
rs375105159
|
0.00037
|
NM_000304.4(PMP22):c.*1049C>G
|
rs750733887
|
0.00035
|
NM_001136472.2(LITAF):c.*37G>C
|
rs201429019
|
0.00032
|
NM_000304.4(PMP22):c.*894C>T
|
rs916402753
|
0.00021
|
NM_000304.4(PMP22):c.*3C>T
|
rs373690370
|
0.00016
|
NM_000304.3(PMP22):c.-223C>T
|
rs549380262
|
0.00014
|
NM_000304.4(PMP22):c.*243C>T
|
rs533987307
|
0.00012
|
NM_000304.4(PMP22):c.*544C>T
|
rs1329536994
|
0.00008
|
NM_000304.4(PMP22):c.*985C>T
|
rs886052610
|
0.00008
|
NM_000304.4(PMP22):c.*26T>C
|
rs200563670
|
0.00006
|
NM_000304.4(PMP22):c.*890C>T
|
rs546778557
|
0.00006
|
NM_000304.4(PMP22):c.*174G>A
|
rs1386490077
|
0.00002
|
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
|
rs375449671
|
0.00002
|
NM_001136472.2(LITAF):c.-6+526_-6+527insT
|
rs886051655
|
0.00002
|
NM_000304.4(PMP22):c.*907C>A
|
rs963622100
|
0.00001
|
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
|
rs148822354
|
0.00001
|
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
|
rs765741053
|
0.00001
|
NM_001136472.2(LITAF):c.*1870C>T
|
rs150472475
|
0.00001
|
NM_000304.4(PMP22):c.*105CAAAC[2]
|
rs112829799
|
|
NM_000304.4(PMP22):c.*376C>T
|
rs575964802
|
|
NM_000304.4(PMP22):c.*525CT[1]
|
rs71699667
|
|
NM_000304.4(PMP22):c.*596G>T
|
rs1205135654
|
|
NM_000304.4(PMP22):c.*63A>C
|
rs1906244590
|
|
NM_000304.4(PMP22):c.*818T>C
|
rs529200588
|
|
NM_000304.4(PMP22):c.*911C>T
|
rs1015965333
|
|
NM_000304.4(PMP22):c.*961C>G
|
rs760879114
|
|
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
|
rs189205303
|
|
NM_000399.5(EGR2):c.*1028A>G
|
rs886047086
|
|
NM_000399.5(EGR2):c.*1080G>A
|
rs886047085
|
|
NM_000399.5(EGR2):c.*814_*816del
|
rs886047088
|
|
NM_000399.5(EGR2):c.-293ACTG[1]
|
rs886047096
|
|
NM_000530.8(MPZ):c.*858T>C
|
rs886045473
|
|
NM_000530.8(MPZ):c.*901GA[7]
|
rs149030537
|
|
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)
|
rs886045475
|
|
NM_001136472.2(LITAF):c.*582dup
|
rs71406254
|
|
NM_001136472.2(LITAF):c.*816dup
|
rs758850868
|
|
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598
|
|
NM_006158.5(NEFL):c.*1198G>C
|
rs4644268
|
|
NM_006158.5(NEFL):c.*1340_*1342del
|
rs886062829
|
|
NM_006158.5(NEFL):c.*1609_*1612del
|
rs886062826
|
|
NM_006158.5(NEFL):c.*235A>T
|
rs1059111
|
|
NM_006158.5(NEFL):c.*407_*408del
|
rs144391096
|
|
NM_006158.5(NEFL):c.*565del
|
rs886062833
|
|