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_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_000399.5(EGR2):c.627A>G (p.Pro209=)
|
rs224083
|
0.01586
|
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_006158.5(NEFL):c.*485A>G
|
rs145103399
|
0.00252
|
NM_000304.4(PMP22):c.-141C>G
|
rs560442424
|
0.00204
|
NM_001136472.2(LITAF):c.*68G>A
|
rs189101115
|
0.00186
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521
|
0.00111
|
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)
|
rs200151353
|
0.00051
|
NM_000399.5(EGR2):c.644C>T (p.Thr215Met)
|
rs139147487
|
0.00039
|
NM_000530.8(MPZ):c.24C>T (p.Ser8=)
|
rs144841836
|
0.00037
|
NM_000304.4(PMP22):c.320-4C>T
|
rs377467465
|
0.00024
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
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_000530.8(MPZ):c.51G>A (p.Leu17=)
|
rs149637045
|
0.00019
|
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)
|
rs202183386
|
0.00018
|
NM_000399.5(EGR2):c.915C>A (p.Ala305=)
|
rs759462455
|
0.00015
|
NM_000304.4(PMP22):c.87C>T (p.Ile29=)
|
rs201192820
|
0.00014
|
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_000530.8(MPZ):c.270C>T (p.Asp90=)
|
rs121913584
|
0.00010
|
NM_000530.8(MPZ):c.429G>T (p.Thr143=)
|
rs138007992
|
0.00010
|
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_000399.5(EGR2):c.222A>G (p.Pro74=)
|
rs201068734
|
0.00008
|
NM_000399.5(EGR2):c.1386C>G (p.Gly462=)
|
rs768284273
|
0.00007
|
NM_000304.4(PMP22):c.*26T>C
|
rs200563670
|
0.00006
|
NM_000399.5(EGR2):c.1020C>T (p.Tyr340=)
|
rs554727782
|
0.00006
|
NM_000399.5(EGR2):c.669C>A (p.Ile223=)
|
rs766860417
|
0.00006
|
NM_000399.5(EGR2):c.840G>C (p.Val280=)
|
rs563282095
|
0.00006
|
NM_000399.5(EGR2):c.912C>A (p.Ala304=)
|
rs752399953
|
0.00006
|
NM_000530.8(MPZ):c.384C>T (p.Asp128=)
|
rs772611598
|
0.00006
|
NM_000304.4(PMP22):c.426C>T (p.Ala142=)
|
rs763227987
|
0.00005
|
NM_000399.5(EGR2):c.540C>T (p.Asp180=)
|
rs200913249
|
0.00005
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
0.00005
|
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_000399.5(EGR2):c.801A>T (p.Thr267=)
|
rs758589570
|
0.00004
|
NM_000530.8(MPZ):c.210C>T (p.Pro70=)
|
rs545129173
|
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_000530.8(MPZ):c.234+16A>T
|
rs1352578591
|
0.00003
|
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)
|
rs530923760
|
0.00003
|
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.477C>T (p.Arg159=)
|
rs778132801
|
0.00002
|
NM_000304.4(PMP22):c.96T>C (p.Asn32=)
|
rs1315038358
|
0.00002
|
NM_000399.5(EGR2):c.1053C>T (p.Phe351=)
|
rs754645141
|
0.00002
|
NM_000399.5(EGR2):c.108G>A (p.Val36=)
|
rs746579337
|
0.00002
|
NM_000399.5(EGR2):c.1395G>A (p.Pro465=)
|
rs779811073
|
0.00002
|
NM_000399.5(EGR2):c.1428T>A (p.Pro476=)
|
rs377518489
|
0.00002
|
NM_000399.5(EGR2):c.285G>A (p.Lys95=)
|
rs1050343149
|
0.00002
|
NM_000399.5(EGR2):c.561G>A (p.Ala187=)
|
rs144739493
|
0.00002
|
NM_000399.5(EGR2):c.918C>T (p.Ala306=)
|
rs886047094
|
0.00002
|
NM_000399.5(EGR2):c.921C>T (p.Ala307=)
|
rs751393520
|
0.00002
|
NM_000530.8(MPZ):c.449-9C>T
|
rs750530042
|
0.00002
|
NM_000530.8(MPZ):c.543C>T (p.Tyr181=)
|
rs140671661
|
0.00002
|
NM_000530.8(MPZ):c.708G>A (p.Lys236=)
|
rs768913825
|
0.00002
|
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.216G>A (p.Ser72=)
|
rs774493881
|
0.00001
|
NM_000304.4(PMP22):c.246G>A (p.Leu82=)
|
rs779700333
|
0.00001
|
NM_000304.4(PMP22):c.327C>T (p.Cys109=)
|
rs863225028
|
0.00001
|
NM_000304.4(PMP22):c.447C>T (p.Ser149=)
|
rs775019409
|
0.00001
|
NM_000304.4(PMP22):c.471G>A (p.Arg157=)
|
rs770693814
|
0.00001
|
NM_000304.4(PMP22):c.78+10T>C
|
rs1197403748
|
0.00001
|
NM_000399.5(EGR2):c.1149C>T (p.Asp383=)
|
rs762387092
|
0.00001
|
NM_000399.5(EGR2):c.1179C>T (p.Thr393=)
|
rs965148587
|
0.00001
|
NM_000399.5(EGR2):c.1242G>A (p.Lys414=)
|
rs554456422
|
0.00001
|
NM_000399.5(EGR2):c.165C>G (p.Ala55=)
|
rs151290032
|
0.00001
|
NM_000399.5(EGR2):c.170-4C>G
|
rs1221455836
|
0.00001
|
NM_000399.5(EGR2):c.267C>T (p.Thr89=)
|
rs747877927
|
0.00001
|
NM_000399.5(EGR2):c.369G>A (p.Gly123=)
|
rs1458338517
|
0.00001
|
NM_000399.5(EGR2):c.507G>A (p.Pro169=)
|
rs1060504688
|
0.00001
|
NM_000399.5(EGR2):c.567G>A (p.Leu189=)
|
rs1461306330
|
0.00001
|
NM_000399.5(EGR2):c.735C>T (p.Asp245=)
|
rs1275161182
|
0.00001
|
NM_000399.5(EGR2):c.769C>A (p.Arg257=)
|
rs368282744
|
0.00001
|
NM_000399.5(EGR2):c.774G>A (p.Val258=)
|
rs758709729
|
0.00001
|
NM_000399.5(EGR2):c.777C>G (p.Pro259=)
|
rs750955966
|
0.00001
|
NM_000399.5(EGR2):c.789T>C (p.Thr263=)
|
rs765678040
|
0.00001
|
NM_000399.5(EGR2):c.807T>C (p.Arg269=)
|
rs1367488546
|
0.00001
|
NM_000399.5(EGR2):c.924C>T (p.Ala308=)
|
rs886047093
|
0.00001
|
NM_000399.5(EGR2):c.96C>T (p.Ala32=)
|
rs769285458
|
0.00001
|
NM_000399.5(EGR2):c.9C>T (p.Thr3=)
|
rs1554853482
|
0.00001
|
NM_000530.8(MPZ):c.102C>T (p.Thr34=)
|
rs749600926
|
0.00001
|
NM_000530.8(MPZ):c.162C>A (p.Ser54=)
|
rs373911573
|
0.00001
|
NM_000530.8(MPZ):c.279G>A (p.Gly93=)
|
rs778303597
|
0.00001
|
NM_000530.8(MPZ):c.297C>A (p.Ile99=)
|
rs770430402
|
0.00001
|
NM_000530.8(MPZ):c.297C>T (p.Ile99=)
|
rs770430402
|
0.00001
|
NM_000530.8(MPZ):c.354C>T (p.Asp118=)
|
rs780896055
|
0.00001
|
NM_000530.8(MPZ):c.372G>A (p.Thr124=)
|
rs536830537
|
0.00001
|
NM_000530.8(MPZ):c.449-10C>T
|
rs200559887
|
0.00001
|
NM_000530.8(MPZ):c.483G>C (p.Val161=)
|
rs769244921
|
0.00001
|
NM_000530.8(MPZ):c.585-12C>G
|
rs375616364
|
0.00001
|
NM_000530.8(MPZ):c.585-5T>C
|
rs1026836999
|
0.00001
|
NM_000530.8(MPZ):c.645+12T>C
|
rs750848798
|
0.00001
|
NM_000530.8(MPZ):c.646-7C>T
|
rs377495735
|
0.00001
|
NM_000530.8(MPZ):c.663A>G (p.Ala221=)
|
rs1404344759
|
0.00001
|
NM_000530.8(MPZ):c.67+10G>A
|
rs1252695545
|
0.00001
|
NM_000530.8(MPZ):c.78G>C (p.Pro26=)
|
rs777790314
|
0.00001
|
NM_000304.4(PMP22):c.*105CAAAC[2]
|
rs112829799
|
|
NM_000304.4(PMP22):c.*525CT[1]
|
rs71699667
|
|
NM_000304.4(PMP22):c.138C>A (p.Ser46=)
|
|
|
NM_000304.4(PMP22):c.153C>T (p.His51=)
|
|
|
NM_000304.4(PMP22):c.178+7C>G
|
|
|
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.180A>G (p.Glu60=)
|
rs1223037928
|
|
NM_000304.4(PMP22):c.189G>A (p.Gln63=)
|
|
|
NM_000304.4(PMP22):c.267C>T (p.Thr89=)
|
|
|
NM_000304.4(PMP22):c.273C>T (p.Thr91=)
|
|
|
NM_000304.4(PMP22):c.319+11G>A
|
|
|
NM_000304.4(PMP22):c.320-18G>A
|
|
|
NM_000304.4(PMP22):c.320-4C>G
|
rs377467465
|
|
NM_000304.4(PMP22):c.330G>C (p.Val110=)
|
|
|
NM_000304.4(PMP22):c.345C>T (p.Ala115=)
|
|
|
NM_000304.4(PMP22):c.351C>T (p.Tyr117=)
|
rs1906290133
|
|
NM_000304.4(PMP22):c.354G>A (p.Thr118=)
|
|
|
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>T (p.His12=)
|
rs104894622
|
|
NM_000304.4(PMP22):c.387T>C (p.Asp129=)
|
rs1597597640
|
|
NM_000304.4(PMP22):c.393C>T (p.Ser131=)
|
|
|
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.438C>T (p.Ala146=)
|
|
|
NM_000304.4(PMP22):c.480A>G (p.Glu160=)
|
|
|
NM_000304.4(PMP22):c.69G>A (p.Thr23=)
|
rs376847762
|
|
NM_000304.4(PMP22):c.78+16G>A
|
|
|
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_000399.5(EGR2):c.*1080G>A
|
rs886047085
|
|
NM_000399.5(EGR2):c.1041C>T (p.Cys347=)
|
|
|
NM_000399.5(EGR2):c.1044C>T (p.Asp348=)
|
rs2132703130
|
|
NM_000399.5(EGR2):c.1047G>T (p.Arg349=)
|
rs2132703104
|
|
NM_000399.5(EGR2):c.1050G>C (p.Arg350=)
|
rs781058000
|
|
NM_000399.5(EGR2):c.1050G>T (p.Arg350=)
|
|
|
NM_000399.5(EGR2):c.1077G>C (p.Arg359=)
|
rs2132702888
|
|
NM_000399.5(EGR2):c.1080C>T (p.His360=)
|
rs766297007
|
|
NM_000399.5(EGR2):c.1170C>T (p.Arg390=)
|
|
|
NM_000399.5(EGR2):c.1191C>T (p.Pro397=)
|
rs2132702386
|
|
NM_000399.5(EGR2):c.1206C>T (p.Tyr402=)
|
rs1554853017
|
|
NM_000399.5(EGR2):c.1248C>T (p.His416=)
|
rs1589080344
|
|
NM_000399.5(EGR2):c.126C>G (p.Ala42=)
|
rs1554853456
|
|
NM_000399.5(EGR2):c.129A>G (p.Glu43=)
|
rs1023788893
|
|
NM_000399.5(EGR2):c.1302G>T (p.Ser434=)
|
|
|
NM_000399.5(EGR2):c.130C>T (p.Leu44=)
|
rs2132712516
|
|
NM_000399.5(EGR2):c.1320A>T (p.Thr440=)
|
rs1842159546
|
|
NM_000399.5(EGR2):c.1323C>T (p.Ala441=)
|
|
|
NM_000399.5(EGR2):c.1326C>T (p.Ser442=)
|
|
|
NM_000399.5(EGR2):c.1353T>G (p.Gly451=)
|
|
|
NM_000399.5(EGR2):c.1357C>T (p.Leu453=)
|
|
|
NM_000399.5(EGR2):c.1386C>T (p.Gly462=)
|
rs768284273
|
|
NM_000399.5(EGR2):c.1398C>T (p.Leu466=)
|
|
|
NM_000399.5(EGR2):c.1414C>A (p.Arg472=)
|
|
|
NM_000399.5(EGR2):c.1425A>C (p.Thr475=)
|
|
|
NM_000399.5(EGR2):c.169+13T>A
|
rs1479396729
|
|
NM_000399.5(EGR2):c.169+19C>T
|
|
|
NM_000399.5(EGR2):c.170-10C>T
|
rs755853466
|
|
NM_000399.5(EGR2):c.170-11C>G
|
|
|
NM_000399.5(EGR2):c.170-14T>C
|
|
|
NM_000399.5(EGR2):c.170-19C>A
|
|
|
NM_000399.5(EGR2):c.170-8C>T
|
|
|
NM_000399.5(EGR2):c.171T>C (p.Asp57=)
|
|
|
NM_000399.5(EGR2):c.18C>T (p.Ala6=)
|
rs1225211720
|
|
NM_000399.5(EGR2):c.198A>C (p.Gly66=)
|
rs201770282
|
|
NM_000399.5(EGR2):c.210G>A (p.Ser70=)
|
rs776156156
|
|
NM_000399.5(EGR2):c.210G>C (p.Ser70=)
|
rs776156156
|
|
NM_000399.5(EGR2):c.339C>A (p.Ile113=)
|
rs1842207132
|
|
NM_000399.5(EGR2):c.384T>A (p.Ala128=)
|
|
|
NM_000399.5(EGR2):c.417C>T (p.Ala139=)
|
rs1842204239
|
|
NM_000399.5(EGR2):c.426C>T (p.Asn142=)
|
|
|
NM_000399.5(EGR2):c.430C>T (p.Leu144=)
|
|
|
NM_000399.5(EGR2):c.480C>T (p.Asp160=)
|
rs1842201460
|
|
NM_000399.5(EGR2):c.501G>A (p.Pro167=)
|
|
|
NM_000399.5(EGR2):c.564C>T (p.Phe188=)
|
rs776212792
|
|
NM_000399.5(EGR2):c.630C>T (p.Ser210=)
|
|
|
NM_000399.5(EGR2):c.645G>A (p.Thr215=)
|
rs781408172
|
|
NM_000399.5(EGR2):c.645G>C (p.Thr215=)
|
|
|
NM_000399.5(EGR2):c.684A>T (p.Gly228=)
|
rs1021225769
|
|
NM_000399.5(EGR2):c.712C>T (p.Leu238=)
|
|
|
NM_000399.5(EGR2):c.723A>C (p.Thr241=)
|
|
|
NM_000399.5(EGR2):c.762C>T (p.Asp254=)
|
|
|
NM_000399.5(EGR2):c.765C>T (p.Thr255=)
|
|
|
NM_000399.5(EGR2):c.766C>T (p.Leu256=)
|
|
|
NM_000399.5(EGR2):c.780T>A (p.Pro260=)
|
rs1465091838
|
|
NM_000399.5(EGR2):c.816C>A (p.Thr272=)
|
rs863224359
|
|
NM_000399.5(EGR2):c.843C>G (p.Thr281=)
|
|
|
NM_000399.5(EGR2):c.843C>T (p.Thr281=)
|
rs375890313
|
|
NM_000399.5(EGR2):c.867C>T (p.Ser289=)
|
|
|
NM_000399.5(EGR2):c.879G>C (p.Arg293=)
|
|
|
NM_000399.5(EGR2):c.882G>C (p.Leu294=)
|
|
|
NM_000399.5(EGR2):c.912C>T (p.Ala304=)
|
|
|
NM_000399.5(EGR2):c.943C>T (p.Leu315=)
|
|
|
NM_000399.5(EGR2):c.957C>T (p.Pro319=)
|
rs772281054
|
|
NM_000399.5(EGR2):c.978C>T (p.Tyr326=)
|
|
|
NM_000399.5(EGR2):c.990C>G (p.Pro330=)
|
|
|
NM_000530.8(MPZ):c.114C>G (p.Val38=)
|
rs1571820275
|
|
NM_000530.8(MPZ):c.142C>T (p.Leu48=)
|
|
|
NM_000530.8(MPZ):c.168G>A (p.Glu56=)
|
rs757135674
|
|
NM_000530.8(MPZ):c.18C>T (p.Pro6=)
|
|
|
NM_000530.8(MPZ):c.195C>G (p.Thr65=)
|
|
|
NM_000530.8(MPZ):c.201C>T (p.Arg67=)
|
rs1571819920
|
|
NM_000530.8(MPZ):c.216G>A (p.Gly72=)
|
rs1303858319
|
|
NM_000530.8(MPZ):c.216G>C (p.Gly72=)
|
rs1303858319
|
|
NM_000530.8(MPZ):c.234+12G>A
|
|
|
NM_000530.8(MPZ):c.234+13G>A
|
|
|
NM_000530.8(MPZ):c.234+14G>A
|
|
|
NM_000530.8(MPZ):c.243C>T (p.His81=)
|
rs1571819354
|
|
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys)
|
rs1383238492
|
|
NM_000530.8(MPZ):c.282C>T (p.Thr94=)
|
|
|
NM_000530.8(MPZ):c.333C>T (p.Ser111=)
|
rs2102258993
|
|
NM_000530.8(MPZ):c.378T>C (p.Thr126=)
|
|
|
NM_000530.8(MPZ):c.42G>A (p.Leu14=)
|
rs1670359930
|
|
NM_000530.8(MPZ):c.448+10G>A
|
rs1224416223
|
|
NM_000530.8(MPZ):c.448+13A>T
|
|
|
NM_000530.8(MPZ):c.448+17G>A
|
rs1172824315
|
|
NM_000530.8(MPZ):c.448+19A>G
|
|
|
NM_000530.8(MPZ):c.449-14C>T
|
|
|
NM_000530.8(MPZ):c.472C>T (p.Leu158=)
|
|
|
NM_000530.8(MPZ):c.474G>C (p.Leu158=)
|
|
|
NM_000530.8(MPZ):c.489G>A (p.Gly163=)
|
|
|
NM_000530.8(MPZ):c.49C>T (p.Leu17=)
|
rs2102262770
|
|
NM_000530.8(MPZ):c.552A>G (p.Leu184=)
|
|
|
NM_000530.8(MPZ):c.555C>T (p.Arg185=)
|
|
|
NM_000530.8(MPZ):c.577A>C (p.Arg193=)
|
|
|
NM_000530.8(MPZ):c.584+10G>C
|
rs946514874
|
|
NM_000530.8(MPZ):c.584+16dup
|
|
|
NM_000530.8(MPZ):c.584+18G>C
|
|
|
NM_000530.8(MPZ):c.584+8G>A
|
|
|
NM_000530.8(MPZ):c.585-15T>C
|
|
|
NM_000530.8(MPZ):c.585-19G>A
|
rs1558153528
|
|
NM_000530.8(MPZ):c.585-7_585-5del
|
rs770501358
|
|
NM_000530.8(MPZ):c.585-8T>A
|
|
|
NM_000530.8(MPZ):c.585-8T>C
|
rs1571817654
|
|
NM_000530.8(MPZ):c.597G>A (p.Lys199=)
|
rs777928293
|
|
NM_000530.8(MPZ):c.606G>A (p.Leu202=)
|
|
|
NM_000530.8(MPZ):c.645+10A>G
|
rs1670232533
|
|
NM_000530.8(MPZ):c.646-12C>A
|
|
|
NM_000530.8(MPZ):c.646-20T>G
|
|
|
NM_000530.8(MPZ):c.646-5C>G
|
rs201115971
|
|
NM_000530.8(MPZ):c.646-7C>G
|
rs377495735
|
|
NM_000530.8(MPZ):c.648G>A (p.Thr216=)
|
|
|
NM_000530.8(MPZ):c.648G>C (p.Thr216=)
|
|
|
NM_000530.8(MPZ):c.648G>T (p.Thr216=)
|
rs755728895
|
|
NM_000530.8(MPZ):c.654G>A (p.Val218=)
|
rs1571817228
|
|
NM_000530.8(MPZ):c.655C>T (p.Leu219=)
|
rs1571817225
|
|
NM_000530.8(MPZ):c.67+15T>A
|
|
|
NM_000530.8(MPZ):c.687C>T (p.Thr229=)
|
|
|
NM_000530.8(MPZ):c.738T>C (p.Asp246=)
|
rs1571816986
|
|
NM_000530.8(MPZ):c.75C>T (p.Ser25=)
|
|
|
NM_000530.8(MPZ):c.78G>A (p.Pro26=)
|
|
|
NM_000530.8(MPZ):c.90C>T (p.Ile30=)
|
|
|
NM_006158.5(NEFL):c.*1198G>C
|
rs4644268
|
|
NM_006158.5(NEFL):c.*407_*408del
|
rs144391096
|
|