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_000304.4(PMP22):c.*577T>C
|
rs7538
|
0.20549
|
NM_000304.4(PMP22):c.319+33C>T
|
rs3744333
|
0.06039
|
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.179-17G>A
|
rs77406217
|
0.00621
|
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.320-4C>T
|
rs377467465
|
0.00024
|
NM_000304.4(PMP22):c.*894C>T
|
rs916402753
|
0.00021
|
NM_000304.4(PMP22):c.423G>T (p.Val141=)
|
rs144077495
|
0.00021
|
NM_000304.4(PMP22):c.268C>G (p.Leu90Val)
|
rs147114400
|
0.00020
|
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.87C>T (p.Ile29=)
|
rs201192820
|
0.00014
|
NM_000304.4(PMP22):c.*243C>T
|
rs533987307
|
0.00012
|
NM_000304.4(PMP22):c.402C>T (p.Phe134=)
|
rs536417866
|
0.00011
|
NM_000304.4(PMP22):c.72C>A (p.Ile24=)
|
rs371373574
|
0.00010
|
NM_000304.4(PMP22):c.177C>T (p.Asn59=)
|
rs376797385
|
0.00009
|
NM_000304.4(PMP22):c.318T>C (p.Ala106=)
|
rs778234032
|
0.00009
|
NM_000304.4(PMP22):c.69G>C (p.Thr23=)
|
rs376847762
|
0.00009
|
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.88G>A (p.Val30Met)
|
rs377335295
|
0.00007
|
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.152A>G (p.His51Arg)
|
rs368908933
|
0.00005
|
NM_000304.4(PMP22):c.426C>T (p.Ala142=)
|
rs763227987
|
0.00005
|
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
|
rs756046682
|
0.00004
|
NM_000304.4(PMP22):c.25A>G (p.Ile9Val)
|
rs138515303
|
0.00004
|
NM_000304.4(PMP22):c.342G>A (p.Ala114=)
|
rs201871607
|
0.00004
|
NM_000304.4(PMP22):c.381C>T (p.Asn127=)
|
rs369477577
|
0.00004
|
NM_000304.4(PMP22):c.383C>T (p.Ser128Leu)
|
rs778731157
|
0.00004
|
NM_000304.4(PMP22):c.18G>C (p.Leu6=)
|
rs781550490
|
0.00003
|
NM_000304.4(PMP22):c.21T>C (p.Ser7=)
|
rs755300278
|
0.00003
|
NM_000304.4(PMP22):c.365C>T (p.Pro122Leu)
|
rs768085434
|
0.00003
|
NM_000304.4(PMP22):c.*174G>A
|
rs1386490077
|
0.00002
|
NM_000304.4(PMP22):c.173C>A (p.Pro58Gln)
|
rs745939923
|
0.00002
|
NM_000304.4(PMP22):c.179-13C>G
|
rs756820859
|
0.00002
|
NM_000304.4(PMP22):c.234G>A (p.Leu78=)
|
rs745546543
|
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.477C>T (p.Arg159=)
|
rs778132801
|
0.00002
|
NM_000304.4(PMP22):c.96T>C (p.Asn32=)
|
rs1315038358
|
0.00002
|
NM_000304.4(PMP22):c.*907C>A
|
rs963622100
|
0.00001
|
NM_000304.4(PMP22):c.100C>T (p.His34Tyr)
|
rs756458019
|
0.00001
|
NM_000304.4(PMP22):c.102C>T (p.His34=)
|
rs779654897
|
0.00001
|
NM_000304.4(PMP22):c.103G>A (p.Ala35Thr)
|
rs750000952
|
0.00001
|
NM_000304.4(PMP22):c.130A>T (p.Thr44Ser)
|
rs112651887
|
0.00001
|
NM_000304.4(PMP22):c.134C>T (p.Ser45Phe)
|
rs1259742235
|
0.00001
|
NM_000304.4(PMP22):c.206T>C (p.Met69Thr)
|
rs104894620
|
0.00001
|
NM_000304.4(PMP22):c.216G>A (p.Ser72=)
|
rs774493881
|
0.00001
|
NM_000304.4(PMP22):c.241T>C (p.Phe81Leu)
|
rs748551014
|
0.00001
|
NM_000304.4(PMP22):c.246G>A (p.Leu82=)
|
rs779700333
|
0.00001
|
NM_000304.4(PMP22):c.301A>C (p.Ile101Leu)
|
rs1461201721
|
0.00001
|
NM_000304.4(PMP22):c.319+14G>T
|
rs1567704579
|
0.00001
|
NM_000304.4(PMP22):c.327C>T (p.Cys109=)
|
rs863225028
|
0.00001
|
NM_000304.4(PMP22):c.328G>A (p.Val110Met)
|
rs1044810473
|
0.00001
|
NM_000304.4(PMP22):c.332T>C (p.Met111Thr)
|
rs759808649
|
0.00001
|
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
|
rs148822354
|
0.00001
|
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser)
|
rs140763467
|
0.00001
|
NM_000304.4(PMP22):c.409A>G (p.Ile137Val)
|
rs755551524
|
0.00001
|
NM_000304.4(PMP22):c.447C>T (p.Ser149=)
|
rs775019409
|
0.00001
|
NM_000304.4(PMP22):c.454A>G (p.Ile152Val)
|
rs1398185771
|
0.00001
|
NM_000304.4(PMP22):c.458A>G (p.Tyr153Cys)
|
rs761138676
|
0.00001
|
NM_000304.4(PMP22):c.471G>A (p.Arg157=)
|
rs770693814
|
0.00001
|
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)
|
rs749165928
|
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.78+10T>C
|
rs1197403748
|
0.00001
|
NM_000304.4(PMP22):c.84G>C (p.Trp28Cys)
|
rs1442525908
|
0.00001
|
NM_000304.4(PMP22):c.98G>A (p.Gly33Glu)
|
rs754175558
|
0.00001
|
NC_000017.10:g.(?_15132094)_(15169674_?)dup
|
|
|
NC_000017.10:g.(?_15133084)_(15134407_?)del
|
|
|
NC_000017.10:g.(?_15133084)_(15164054_?)del
|
|
|
NC_000017.10:g.(?_15133084)_(15164054_?)dup
|
|
|
NC_000017.10:g.(?_15133097)_(15164054_?)del
|
|
|
NC_000017.10:g.(?_15133097)_(15164054_?)dup
|
|
|
NC_000017.10:g.(?_15134214)_(15162530_?)dup
|
|
|
NC_000017.10:g.(?_15134214)_(15164064_?)del
|
|
|
NC_000017.10:g.(?_15134214)_(15164064_?)dup
|
|
|
NC_000017.10:g.(?_15134234)_(15164044_?)del
|
|
|
NC_000017.10:g.(?_15134234)_(15164044_?)dup
|
|
|
NC_000017.10:g.(?_15142768)_(15142948_?)dup
|
|
|
NC_000017.10:g.(?_15142768)_(15164064_?)dup
|
|
|
NC_000017.10:g.(?_15142778)_(15142938_?)del
|
|
|
NC_000017.10:g.(?_15162391)_(15164044_?)del
|
|
|
NC_000017.10:g.(?_15162401)_(15162520_?)del
|
|
|
NC_000017.10:g.(?_15162401)_(15162523_?)del
|
|
|
NC_000017.11:g.(?_15229767)_(15239621_?)del
|
|
|
NC_000017.11:g.(?_15239451)_(15239631_?)del
|
|
|
NC_000017.11:g.(?_15259084)_(15260737_?)del
|
|
|
NM_000304.2(PMP22):c.(?_-1)_(*1_?)del
|
|
|
NM_000304.2(PMP22):c.(?_-1)_(*1_?)dup
|
|
|
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.109G>A (p.Asp37Asn)
|
|
|
NM_000304.4(PMP22):c.113T>C (p.Leu38Pro)
|
rs1234608261
|
|
NM_000304.4(PMP22):c.117del (p.Trp39fs)
|
rs1482355069
|
|
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
|
|
|
NM_000304.4(PMP22):c.125G>A (p.Cys42Tyr)
|
|
|
NM_000304.4(PMP22):c.138C>A (p.Ser46=)
|
|
|
NM_000304.4(PMP22):c.138del (p.Ser47fs)
|
rs864622180
|
|
NM_000304.4(PMP22):c.139del (p.Ser47fs)
|
|
|
NM_000304.4(PMP22):c.153C>T (p.His51=)
|
|
|
NM_000304.4(PMP22):c.160_178+78delinsGGAC
|
|
|
NM_000304.4(PMP22):c.172C>T (p.Pro58Ser)
|
rs772242644
|
|
NM_000304.4(PMP22):c.178+7C>G
|
|
|
NM_000304.4(PMP22):c.178G>A (p.Glu60Lys)
|
|
|
NM_000304.4(PMP22):c.179-15G>C
|
|
|
NM_000304.4(PMP22):c.179-17G>C
|
|
|
NM_000304.4(PMP22):c.179-20C>G
|
rs1907138508
|
|
NM_000304.4(PMP22):c.179-3C>G
|
rs1284105482
|
|
NM_000304.4(PMP22):c.180A>G (p.Glu60=)
|
rs1223037928
|
|
NM_000304.4(PMP22):c.181del (p.Trp61fs)
|
rs2150676904
|
|
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter)
|
rs1597608203
|
|
NM_000304.4(PMP22):c.189G>A (p.Gln63=)
|
|
|
NM_000304.4(PMP22):c.191C>T (p.Ser64Phe)
|
rs1311837830
|
|
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)
|
rs104894623
|
|
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
|
rs104894623
|
|
NM_000304.4(PMP22):c.203C>T (p.Thr68Ile)
|
rs2150676849
|
|
NM_000304.4(PMP22):c.206T>A (p.Met69Lys)
|
rs104894620
|
|
NM_000304.4(PMP22):c.212T>A (p.Leu71Gln)
|
|
|
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)
|
rs1597608086
|
|
NM_000304.4(PMP22):c.215C>A (p.Ser72Ter)
|
rs104894621
|
|
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
|
rs104894621
|
|
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)
|
rs104894621
|
|
NM_000304.4(PMP22):c.219_223dup (p.Phe75fs)
|
|
|
NM_000304.4(PMP22):c.227del (p.Ser76fs)
|
rs1597608057
|
|
NM_000304.4(PMP22):c.229A>G (p.Ile77Val)
|
|
|
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)
|
rs1555565276
|
|
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)
|
rs863225027
|
|
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)
|
rs863225027
|
|
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)
|
rs104894618
|
|
NM_000304.4(PMP22):c.236C>T (p.Ser79Phe)
|
rs104894618
|
|
NM_000304.4(PMP22):c.23T>A (p.Ile8Asn)
|
|
|
NM_000304.4(PMP22):c.244dup (p.Leu82fs)
|
|
|
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro)
|
rs878853113
|
|
NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del)
|
rs1597607920
|
|
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)
|
rs11545341
|
|
NM_000304.4(PMP22):c.261_262del (p.Phe88fs)
|
rs1567704791
|
|
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
|
rs189205303
|
|
NM_000304.4(PMP22):c.267C>T (p.Thr89=)
|
|
|
NM_000304.4(PMP22):c.273C>T (p.Thr91=)
|
|
|
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg)
|
rs778693173
|
|
NM_000304.4(PMP22):c.277G>T (p.Gly93Trp)
|
|
|
NM_000304.4(PMP22):c.278G>C (p.Gly93Ala)
|
|
|
NM_000304.4(PMP22):c.280_281delinsT (p.Gly94fs)
|
rs864622678
|
|
NM_000304.4(PMP22):c.281del (p.Gly94fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.292A>G (p.Ile98Val)
|
rs748778392
|
|
NM_000304.4(PMP22):c.296C>T (p.Thr99Ile)
|
|
|
NM_000304.4(PMP22):c.299G>T (p.Gly100Val)
|
rs1597607638
|
|
NM_000304.4(PMP22):c.308A>G (p.Gln103Arg)
|
rs786204064
|
|
NM_000304.4(PMP22):c.316G>A (p.Ala106Thr)
|
|
|
NM_000304.4(PMP22):c.317C>A (p.Ala106Asp)
|
rs1597607537
|
|
NM_000304.4(PMP22):c.318del (p.Gly107fs)
|
rs1597607532
|
|
NM_000304.4(PMP22):c.319+11G>A
|
|
|
NM_000304.4(PMP22):c.319+1G>A
|
rs1597607514
|
|
NM_000304.4(PMP22):c.319+1G>T
|
rs1597607514
|
|
NM_000304.4(PMP22):c.319G>C (p.Gly107Arg)
|
rs1362042435
|
|
NM_000304.4(PMP22):c.320-18G>A
|
|
|
NM_000304.4(PMP22):c.320-4C>G
|
rs377467465
|
|
NM_000304.4(PMP22):c.320G>T (p.Gly107Val)
|
rs1597597900
|
|
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)
|
rs863225028
|
|
NM_000304.4(PMP22):c.32T>G (p.Leu11Arg)
|
rs1567719334
|
|
NM_000304.4(PMP22):c.330G>C (p.Val110=)
|
|
|
NM_000304.4(PMP22):c.335del (p.Ser112fs)
|
rs1906294453
|
|
NM_000304.4(PMP22):c.338C>T (p.Ala113Val)
|
rs774831750
|
|
NM_000304.4(PMP22):c.345C>T (p.Ala115=)
|
|
|
NM_000304.4(PMP22):c.350A>G (p.Tyr117Cys)
|
|
|
NM_000304.4(PMP22):c.351C>A (p.Tyr117Ter)
|
rs1906290133
|
|
NM_000304.4(PMP22):c.351C>T (p.Tyr117=)
|
rs1906290133
|
|
NM_000304.4(PMP22):c.354G>A (p.Thr118=)
|
|
|
NM_000304.4(PMP22):c.35A>G (p.His12Arg)
|
rs1909248652
|
|
NM_000304.4(PMP22):c.366G>A (p.Pro122=)
|
rs372723732
|
|
NM_000304.4(PMP22):c.369G>A (p.Glu123=)
|
|
|
NM_000304.4(PMP22):c.36C>A (p.His12Gln)
|
rs104894622
|
|
NM_000304.4(PMP22):c.36C>G (p.His12Gln)
|
|
|
NM_000304.4(PMP22):c.36C>T (p.His12=)
|
rs104894622
|
|
NM_000304.4(PMP22):c.370T>C (p.Trp124Arg)
|
|
|
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
|
rs1597597678
|
|
NM_000304.4(PMP22):c.374A>G (p.His125Arg)
|
rs2150664758
|
|
NM_000304.4(PMP22):c.376C>G (p.Leu126Val)
|
|
|
NM_000304.4(PMP22):c.380A>G (p.Asn127Ser)
|
rs1345860559
|
|
NM_000304.4(PMP22):c.387T>C (p.Asp129=)
|
rs1597597640
|
|
NM_000304.4(PMP22):c.38T>C (p.Val13Ala)
|
rs1909248074
|
|
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
|
rs1597597627
|
|
NM_000304.4(PMP22):c.393C>T (p.Ser131=)
|
|
|
NM_000304.4(PMP22):c.396del (p.Ser131_Tyr132insTer)
|
|
|
NM_000304.4(PMP22):c.413T>C (p.Leu138Pro)
|
|
|
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
|
rs1555564040
|
|
NM_000304.4(PMP22):c.418T>C (p.Trp140Arg)
|
rs1555564040
|
|
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)
|
rs1597597534
|
|
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter)
|
rs1597597527
|
|
NM_000304.4(PMP22):c.421G>A (p.Val141Met)
|
|
|
NM_000304.4(PMP22):c.42G>C (p.Ala14=)
|
rs1555568786
|
|
NM_000304.4(PMP22):c.42G>T (p.Ala14=)
|
rs1555568786
|
|
NM_000304.4(PMP22):c.434T>G (p.Leu145Arg)
|
rs1906263385
|
|
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029
|
|
NM_000304.4(PMP22):c.435G>A (p.Leu145=)
|
rs1906262905
|
|
NM_000304.4(PMP22):c.438C>T (p.Ala146=)
|
|
|
NM_000304.4(PMP22):c.43GTGCTG[3] (p.Leu18_Leu19insValLeu)
|
|
|
NM_000304.4(PMP22):c.440T>C (p.Leu147Pro)
|
|
|
NM_000304.4(PMP22):c.448G>C (p.Gly150Arg)
|
rs104894624
|
|
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)
|
rs104894624
|
|
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)
|
rs879253954
|
|
NM_000304.4(PMP22):c.449G>T (p.Gly150Val)
|
rs879253954
|
|
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682
|
|
NM_000304.4(PMP22):c.476G>A (p.Arg159His)
|
rs773478255
|
|
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro)
|
rs773478255
|
|
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
|
rs104894617
|
|
NM_000304.4(PMP22):c.480A>G (p.Glu160=)
|
|
|
NM_000304.4(PMP22):c.481T>C (p.Ter161Arg)
|
rs2150664495
|
|
NM_000304.4(PMP22):c.52CTG[1] (p.Leu19del)
|
rs2150710120
|
|
NM_000304.4(PMP22):c.52_56delinsGCGATCGTG (p.Leu18fs)
|
rs1909244614
|
|
NM_000304.4(PMP22):c.64T>C (p.Ser22Pro)
|
|
|
NM_000304.4(PMP22):c.68C>A (p.Thr23Lys)
|
rs906563423
|
|
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)
|
rs906563423
|
|
NM_000304.4(PMP22):c.68C>T (p.Thr23Met)
|
|
|
NM_000304.4(PMP22):c.69G>A (p.Thr23=)
|
rs376847762
|
|
NM_000304.4(PMP22):c.72C>G (p.Ile24Met)
|
rs371373574
|
|
NM_000304.4(PMP22):c.78+16G>A
|
|
|
NM_000304.4(PMP22):c.78+1G>A
|
rs1426969421
|
|
NM_000304.4(PMP22):c.78+1G>C
|
rs1426969421
|
|
NM_000304.4(PMP22):c.78+2T>C
|
|
|
NM_000304.4(PMP22):c.78+2del
|
|
|
NM_000304.4(PMP22):c.78+5G>C
|
rs1174594975
|
|
NM_000304.4(PMP22):c.78+7G>A
|
|
|
NM_000304.4(PMP22):c.78+9C>T
|
rs1428777013
|
|
NM_000304.4(PMP22):c.79-14C>G
|
|
|
NM_000304.4(PMP22):c.79-16A>C
|
rs373417110
|
|
NM_000304.4(PMP22):c.79-16A>G
|
rs373417110
|
|
NM_000304.4(PMP22):c.79-4C>A
|
|
|
NM_000304.4(PMP22):c.79-4C>G
|
|
|
NM_000304.4(PMP22):c.79-8C>T
|
rs1597633194
|
|
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)
|
rs104894626
|
|
NM_000304.4(PMP22):c.83G>A (p.Trp28Ter)
|
rs1555568475
|
|
NM_000304.4(PMP22):c.84G>T (p.Trp28Cys)
|
rs1442525908
|
|