NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000304.4(PMP22):c.*205C>A
|
rs189734097
|
0.00154
|
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_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.-134G>A
|
rs754758124
|
0.00013
|
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.185T>G (p.Leu62Arg)
|
rs756046682
|
0.00004
|
NM_000304.4(PMP22):c.*174G>A
|
rs1386490077
|
0.00002
|
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)
|
rs755701957
|
0.00002
|
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
|
rs375449671
|
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.478G>A (p.Glu160Lys)
|
rs1022583382
|
0.00001
|
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
|
rs765741053
|
0.00001
|
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.197A>C (p.Gln66Pro)
|
rs1907131144
|
|
NM_000304.4(PMP22):c.260T>C (p.Leu87Pro)
|
rs1907114176
|
|
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
|
rs189205303
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)
|
rs1597597683
|
|
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
|
rs1597597678
|
|
NM_000304.4(PMP22):c.433dup (p.Leu145fs)
|
rs1567698872
|
|
NM_001080779.2(MYO1C):c.75+5G>A
|
|
|
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro)
|
rs57877560
|
|