NM_000304.4(PMP22):c.*59A>C
|
rs13422
|
0.56905
|
NM_000304.4(PMP22):c.*577T>C
|
rs7538
|
0.20549
|
NM_000304.4(PMP22):c.*828G>A
|
rs13027
|
0.06019
|
NM_000304.4(PMP22):c.*228G>A
|
rs1804193
|
0.05698
|
NM_000304.4(PMP22):c.*1111G>T
|
rs7415
|
0.04701
|
NM_000304.4(PMP22):c.*1120T>C
|
rs11654383
|
0.01749
|
NM_000304.4(PMP22):c.-74A>G
|
rs114365663
|
0.01441
|
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.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_000304.4(PMP22):c.-141C>G
|
rs560442424
|
0.00204
|
NM_000304.4(PMP22):c.*205C>A
|
rs189734097
|
0.00154
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521
|
0.00111
|
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_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.*26T>C
|
rs200563670
|
0.00006
|
NM_000304.4(PMP22):c.*890C>T
|
rs546778557
|
0.00006
|
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
|
GRCh37/hg19 17p12(chr17:15133096-15164093)x1
|
|
|
GRCh38/hg20 17p12(chr17:14170534-15591587)x4
|
|
|
NC_000017.10:g.(?_15133094)_(15164078_?)dup
|
|
|
NC_000017.11:g.(?_14440201)_(15475424_?)dup
|
|
|
NC_000017.11:g.15133096_15164093dup
|
|
|
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.102C>A (p.His34Gln)
|
rs779654897
|
|
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
|
|
|
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)
|
rs1907131144
|
|
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)
|
rs104894623
|
|
NM_000304.4(PMP22):c.19_20del (p.Ser7fs)
|
rs587776691
|
|
NM_000304.4(PMP22):c.206T>A (p.Met69Lys)
|
rs104894620
|
|
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)
|
rs104894621
|
|
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)
|
rs863225027
|
|
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)
|
rs104894618
|
|
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
|
rs189205303
|
|
NM_000304.4(PMP22):c.281del (p.Gly94fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
|
rs1597607713
|
|
NM_000304.4(PMP22):c.341C>T (p.Ala114Val)
|
rs1217342392
|
|
NM_000304.4(PMP22):c.35A>G (p.His12Arg)
|
rs1909248652
|
|
NM_000304.4(PMP22):c.362A>G (p.His121Arg)
|
rs1567698985
|
|
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.392C>G (p.Ser131Cys)
|
rs1597597627
|
|
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
|
rs1555564040
|
|
NM_000304.4(PMP22):c.433dup (p.Leu145fs)
|
rs1567698872
|
|
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029
|
|
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682
|
|
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
|
rs104894617
|
|
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
|
rs104894625
|
|
NM_000304.4(PMP22):c.78+3G>T
|
rs1597635528
|
|