NM_000399.5(EGR2):c.627= (p.Pro209=)
|
rs224083
|
0.98414
|
NM_000399.5(EGR2):c.1086A>C (p.Arg362=)
|
rs45602133
|
0.04462
|
NM_000530.8(MPZ):c.684C>T (p.Ser228=)
|
rs34307129
|
0.01960
|
NM_000530.8(MPZ):c.600G>A (p.Gly200=)
|
rs16832790
|
0.01850
|
NM_000399.5(EGR2):c.627A>G (p.Pro209=)
|
rs224083
|
0.01586
|
NM_000399.5(EGR2):c.169+10G>T
|
rs114201658
|
0.00953
|
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.403G>A (p.Ala135Thr)
|
rs141094419
|
0.00278
|
NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro)
|
rs146116229
|
0.00148
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521
|
0.00111
|
NM_000399.5(EGR2):c.909A>C (p.Ala303=)
|
rs112474655
|
0.00101
|
NM_000399.5(EGR2):c.246C>G (p.Val82=)
|
rs144217451
|
0.00078
|
NM_000530.8(MPZ):c.504G>A (p.Val168=)
|
rs145592910
|
0.00074
|
NM_000304.4(PMP22):c.79-6C>T
|
rs201682989
|
0.00069
|
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_000399.5(EGR2):c.534A>G (p.Ala178=)
|
rs370084216
|
0.00030
|
NM_000304.4(PMP22):c.320-4C>T
|
rs377467465
|
0.00024
|
NM_000399.5(EGR2):c.174C>T (p.Gly58=)
|
rs143793213
|
0.00024
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
NM_000530.8(MPZ):c.641G>A (p.Arg214Gln)
|
rs147718043
|
0.00023
|
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_000399.5(EGR2):c.442C>T (p.Pro148Ser)
|
rs147604283
|
0.00014
|
NM_000399.5(EGR2):c.137G>T (p.Gly46Val)
|
rs115534601
|
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_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.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_000399.5(EGR2):c.222A>G (p.Pro74=)
|
rs201068734
|
0.00008
|
NM_000399.5(EGR2):c.229A>G (p.Ser77Gly)
|
rs554815622
|
0.00008
|
NM_000304.4(PMP22):c.88G>A (p.Val30Met)
|
rs377335295
|
0.00007
|
NM_000399.5(EGR2):c.1386C>G (p.Gly462=)
|
rs768284273
|
0.00007
|
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.152A>G (p.His51Arg)
|
rs368908933
|
0.00005
|
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_000399.5(EGR2):c.679C>T (p.Pro227Ser)
|
rs794727248
|
0.00005
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
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_000399.5(EGR2):c.665T>C (p.Met222Thr)
|
rs530614586
|
0.00004
|
NM_000399.5(EGR2):c.711C>A (p.Asp237Glu)
|
rs1011150442
|
0.00004
|
NM_000399.5(EGR2):c.719G>T (p.Gly240Val)
|
rs775326892
|
0.00004
|
NM_000399.5(EGR2):c.801A>T (p.Thr267=)
|
rs758589570
|
0.00004
|
NM_000399.5(EGR2):c.826C>A (p.Pro276Thr)
|
rs774442561
|
0.00004
|
NM_000399.5(EGR2):c.832G>A (p.Ala278Thr)
|
rs565355765
|
0.00004
|
NM_000530.8(MPZ):c.210C>T (p.Pro70=)
|
rs545129173
|
0.00004
|
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys)
|
rs573007540
|
0.00004
|
NM_000530.8(MPZ):c.428C>T (p.Thr143Met)
|
rs750724650
|
0.00004
|
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603
|
0.00004
|
NM_000530.8(MPZ):c.454A>G (p.Thr152Ala)
|
rs764402416
|
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_000399.5(EGR2):c.733G>A (p.Asp245Asn)
|
rs745823802
|
0.00003
|
NM_000530.8(MPZ):c.234+16A>T
|
rs1352578591
|
0.00003
|
NM_000530.8(MPZ):c.317G>A (p.Arg106His)
|
rs145039212
|
0.00003
|
NM_000530.8(MPZ):c.530A>G (p.Tyr177Cys)
|
rs573456055
|
0.00003
|
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)
|
rs530923760
|
0.00003
|
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_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.1402C>T (p.Pro468Ser)
|
rs374833463
|
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.529T>A (p.Tyr177Asn)
|
rs758417016
|
0.00002
|
NM_000530.8(MPZ):c.543C>T (p.Tyr181=)
|
rs140671661
|
0.00002
|
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg)
|
rs753107323
|
0.00002
|
NM_000530.8(MPZ):c.708G>A (p.Lys236=)
|
rs768913825
|
0.00002
|
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu)
|
rs749722729
|
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.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.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
|
NM_000399.5(EGR2):c.1081A>G (p.Ile361Val)
|
rs147417827
|
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.125C>A (p.Ala42Asp)
|
rs969576126
|
0.00001
|
NM_000399.5(EGR2):c.1277G>A (p.Arg426Gln)
|
rs780825035
|
0.00001
|
NM_000399.5(EGR2):c.1284C>A (p.Ser428Arg)
|
rs754485850
|
0.00001
|
NM_000399.5(EGR2):c.139C>G (p.Pro47Ala)
|
rs778369129
|
0.00001
|
NM_000399.5(EGR2):c.1420C>T (p.Arg474Trp)
|
rs757007626
|
0.00001
|
NM_000399.5(EGR2):c.163G>T (p.Ala55Ser)
|
rs1411975971
|
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.214G>A (p.Asp72Asn)
|
rs1362876954
|
0.00001
|
NM_000399.5(EGR2):c.223T>C (p.Tyr75His)
|
rs745451966
|
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.460A>G (p.Met154Val)
|
rs757301326
|
0.00001
|
NM_000399.5(EGR2):c.507G>A (p.Pro169=)
|
rs1060504688
|
0.00001
|
NM_000399.5(EGR2):c.560C>T (p.Ala187Val)
|
rs372491511
|
0.00001
|
NM_000399.5(EGR2):c.567G>A (p.Leu189=)
|
rs1461306330
|
0.00001
|
NM_000399.5(EGR2):c.581C>T (p.Thr194Ile)
|
rs1269313182
|
0.00001
|
NM_000399.5(EGR2):c.608C>T (p.Pro203Leu)
|
rs1055082588
|
0.00001
|
NM_000399.5(EGR2):c.625C>A (p.Pro209Thr)
|
rs749421476
|
0.00001
|
NM_000399.5(EGR2):c.670C>A (p.Pro224Thr)
|
rs758869303
|
0.00001
|
NM_000399.5(EGR2):c.716A>G (p.His239Arg)
|
rs760456822
|
0.00001
|
NM_000399.5(EGR2):c.71A>G (p.Asn24Ser)
|
rs985016283
|
0.00001
|
NM_000399.5(EGR2):c.735C>T (p.Asp245=)
|
rs1275161182
|
0.00001
|
NM_000399.5(EGR2):c.736C>T (p.Arg246Cys)
|
rs774391305
|
0.00001
|
NM_000399.5(EGR2):c.74T>A (p.Ile25Asn)
|
rs763131472
|
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.877C>T (p.Arg293Trp)
|
rs371616981
|
0.00001
|
NM_000399.5(EGR2):c.88G>A (p.Asp30Asn)
|
rs371222708
|
0.00001
|
NM_000399.5(EGR2):c.907G>C (p.Ala303Pro)
|
rs1456482795
|
0.00001
|
NM_000399.5(EGR2):c.922G>A (p.Ala308Thr)
|
rs766458625
|
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.103G>A (p.Asp35Asn)
|
rs121913596
|
0.00001
|
NM_000530.8(MPZ):c.116A>C (p.His39Pro)
|
rs371856018
|
0.00001
|
NM_000530.8(MPZ):c.116A>G (p.His39Arg)
|
rs371856018
|
0.00001
|
NM_000530.8(MPZ):c.162C>A (p.Ser54=)
|
rs373911573
|
0.00001
|
NM_000530.8(MPZ):c.16C>T (p.Pro6Ser)
|
rs765575997
|
0.00001
|
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)
|
rs121913605
|
0.00001
|
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys)
|
rs775361544
|
0.00001
|
NM_000530.8(MPZ):c.1A>G (p.Met1Val)
|
rs1427063795
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
NM_000530.8(MPZ):c.214G>T (p.Gly72Trp)
|
rs749459367
|
0.00001
|
NM_000530.8(MPZ):c.230T>C (p.Ile77Thr)
|
rs540599381
|
0.00001
|
NM_000530.8(MPZ):c.259C>T (p.Pro87Ser)
|
rs777338757
|
0.00001
|
NM_000530.8(MPZ):c.275T>A (p.Val92Glu)
|
rs1352220911
|
0.00001
|
NM_000530.8(MPZ):c.279G>A (p.Gly93=)
|
rs778303597
|
0.00001
|
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)
|
rs121913590
|
0.00001
|
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589
|
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.313C>A (p.Pro105Thr)
|
rs121913609
|
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.37A>G (p.Ile13Val)
|
rs145285010
|
0.00001
|
NM_000530.8(MPZ):c.385G>A (p.Val129Ile)
|
rs201156403
|
0.00001
|
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)
|
rs572010627
|
0.00001
|
NM_000530.8(MPZ):c.431del (p.Leu144fs)
|
rs1182353109
|
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.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
NM_000530.8(MPZ):c.505G>T (p.Val169Leu)
|
rs776316386
|
0.00001
|
NM_000530.8(MPZ):c.532G>C (p.Val178Leu)
|
rs1238706311
|
0.00001
|
NM_000530.8(MPZ):c.542A>G (p.Tyr181Cys)
|
rs372051998
|
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.646-3C>G
|
rs750756212
|
0.00001
|
NM_000530.8(MPZ):c.646-7C>T
|
rs377495735
|
0.00001
|
NM_000530.8(MPZ):c.662C>T (p.Ala221Val)
|
rs1040557288
|
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.683G>A (p.Ser228Asn)
|
rs773002116
|
0.00001
|
NM_000530.8(MPZ):c.691G>A (p.Ala231Thr)
|
rs1471261466
|
0.00001
|
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr)
|
rs997633417
|
0.00001
|
NM_000530.8(MPZ):c.78G>C (p.Pro26=)
|
rs777790314
|
0.00001
|
NC_000001.10:g.(?_161275666)_(161279695_?)del
|
|
|
NC_000001.10:g.(?_161279609)_(161751809_?)dup
|
|
|
NC_000001.11:g.(?_161305674)_(161307434_?)del
|
|
|
NC_000001.11:g.(?_161305674)_(161309915_?)dup
|
|
|
NC_000010.10:g.(?_64572967)_(64575789_?)dup
|
|
|
NC_000010.10:g.(?_64572967)_(65225422_?)del
|
|
|
NC_000017.10:g.(?_14139889)_(15142928_?)del
|
|
|
NC_000017.10:g.(?_14139889)_(15406546_?)dup
|
|
|
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.(?_15133096)_(15165152_?)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.(?_15134228)_(15164050_?)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.(?_15142778)_(15164054_?)dup
|
|
|
NC_000017.10:g.(?_15162391)_(15164044_?)del
|
|
|
NC_000017.10:g.(?_15162401)_(15162520_?)del
|
|
|
NC_000017.10:g.(?_15162401)_(15162523_?)del
|
|
|
NC_000017.10:g.(?_15162411)_(15406546_?)dup
|
|
|
NC_000017.11:g.(?_15229767)_(15239621_?)del
|
|
|
NC_000017.11:g.(?_15239451)_(15239631_?)del
|
|
|
NC_000017.11:g.(?_15239461)_(15260737_?)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_000304.3(PMP22):c.-34-?_*1140del
|
|
|
NM_000304.3(PMP22):c.-34-?_*1140dup1657
|
|
|
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.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
|
|
NM_000399.5(EGR2):c.1009G>C (p.Glu337Gln)
|
rs2132703249
|
|
NM_000399.5(EGR2):c.1021C>T (p.Pro341Ser)
|
|
|
NM_000399.5(EGR2):c.1022C>G (p.Pro341Arg)
|
|
|
NM_000399.5(EGR2):c.1022C>T (p.Pro341Leu)
|
rs1131691827
|
|
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.1065C>A (p.Asp355Glu)
|
rs1589080604
|
|
NM_000399.5(EGR2):c.1065C>G (p.Asp355Glu)
|
rs1589080604
|
|
NM_000399.5(EGR2):c.1066G>A (p.Glu356Lys)
|
rs751448371
|
|
NM_000399.5(EGR2):c.1066G>C (p.Glu356Gln)
|
rs751448371
|
|
NM_000399.5(EGR2):c.1072A>T (p.Thr358Ser)
|
|
|
NM_000399.5(EGR2):c.1075C>G (p.Arg359Gly)
|
rs104894161
|
|
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)
|
rs104894161
|
|
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)
|
rs281865136
|
|
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.1090C>T (p.His364Tyr)
|
rs1842170880
|
|
NM_000399.5(EGR2):c.1090_1092dup (p.His364dup)
|
rs1842170750
|
|
NM_000399.5(EGR2):c.10G>T (p.Ala4Ser)
|
rs1283821248
|
|
NM_000399.5(EGR2):c.1106C>G (p.Pro369Arg)
|
|
|
NM_000399.5(EGR2):c.1118G>A (p.Arg373Gln)
|
rs1564706128
|
|
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys)
|
rs1589080524
|
|
NM_000399.5(EGR2):c.1142G>A (p.Arg381His)
|
rs281865137
|
|
NM_000399.5(EGR2):c.1142G>T (p.Arg381Leu)
|
rs281865137
|
|
NM_000399.5(EGR2):c.115T>C (p.Phe39Leu)
|
rs369477396
|
|
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn)
|
rs281865139
|
|
NM_000399.5(EGR2):c.1160C>T (p.Thr387Ile)
|
|
|
NM_000399.5(EGR2):c.1170C>T (p.Arg390=)
|
|
|
NM_000399.5(EGR2):c.1172C>A (p.Thr391Asn)
|
rs1564706036
|
|
NM_000399.5(EGR2):c.1178C>G (p.Thr393Ser)
|
|
|
NM_000399.5(EGR2):c.1191C>T (p.Pro397=)
|
rs2132702386
|
|
NM_000399.5(EGR2):c.1195G>T (p.Ala399Ser)
|
|
|
NM_000399.5(EGR2):c.1198T>A (p.Cys400Ser)
|
rs1842165409
|
|
NM_000399.5(EGR2):c.1199G>C (p.Cys400Ser)
|
rs1564705972
|
|
NM_000399.5(EGR2):c.1203C>G (p.Asp401Glu)
|
|
|
NM_000399.5(EGR2):c.1206C>T (p.Tyr402=)
|
rs1554853017
|
|
NM_000399.5(EGR2):c.1207T>G (p.Cys403Gly)
|
rs1554853016
|
|
NM_000399.5(EGR2):c.1208G>A (p.Cys403Tyr)
|
rs2132702286
|
|
NM_000399.5(EGR2):c.1214G>A (p.Arg405Gln)
|
|
|
NM_000399.5(EGR2):c.1214G>T (p.Arg405Leu)
|
rs1842164540
|
|
NM_000399.5(EGR2):c.1222G>T (p.Ala408Ser)
|
rs1842164368
|
|
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)
|
rs104894159
|
|
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln)
|
rs864622273
|
|
NM_000399.5(EGR2):c.122A>G (p.Asn41Ser)
|
|
|
NM_000399.5(EGR2):c.1231G>A (p.Asp411Asn)
|
rs1842163821
|
|
NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys)
|
rs121434563
|
|
NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly)
|
rs749558026
|
|
NM_000399.5(EGR2):c.1243C>G (p.Arg415Gly)
|
rs1842163429
|
|
NM_000399.5(EGR2):c.1243C>T (p.Arg415Cys)
|
rs1842163429
|
|
NM_000399.5(EGR2):c.1248C>T (p.His416=)
|
rs1589080344
|
|
NM_000399.5(EGR2):c.1260C>G (p.His420Gln)
|
rs1842162935
|
|
NM_000399.5(EGR2):c.1268A>G (p.Gln423Arg)
|
rs1842162762
|
|
NM_000399.5(EGR2):c.126C>G (p.Ala42=)
|
rs1554853456
|
|
NM_000399.5(EGR2):c.1271_1274del (p.Lys424fs)
|
|
|
NM_000399.5(EGR2):c.1274_1275del (p.Glu425fs)
|
rs1589080330
|
|
NM_000399.5(EGR2):c.1286G>A (p.Ser429Asn)
|
rs1842161787
|
|
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.1314del (p.Ser439fs)
|
rs1842160144
|
|
NM_000399.5(EGR2):c.1316C>T (p.Ser439Phe)
|
|
|
NM_000399.5(EGR2):c.1319C>T (p.Thr440Ile)
|
rs2132701816
|
|
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.1328G>A (p.Cys443Tyr)
|
|
|
NM_000399.5(EGR2):c.1339G>T (p.Val447Leu)
|
rs759547856
|
|
NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp)
|
rs138967272
|
|
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272
|
|
NM_000399.5(EGR2):c.1353T>G (p.Gly451=)
|
|
|
NM_000399.5(EGR2):c.1357C>T (p.Leu453=)
|
|
|
NM_000399.5(EGR2):c.1366A>T (p.Ser456Cys)
|
|
|
NM_000399.5(EGR2):c.1379G>A (p.Ser460Asn)
|
|
|
NM_000399.5(EGR2):c.1379del (p.Ser460fs)
|
rs1842157243
|
|
NM_000399.5(EGR2):c.1386C>T (p.Gly462=)
|
rs768284273
|
|
NM_000399.5(EGR2):c.1391G>T (p.Gly464Val)
|
rs878855324
|
|
NM_000399.5(EGR2):c.1398C>T (p.Leu466=)
|
|
|
NM_000399.5(EGR2):c.1399G>A (p.Ala467Thr)
|
rs146116229
|
|
NM_000399.5(EGR2):c.139C>T (p.Pro47Ser)
|
rs778369129
|
|
NM_000399.5(EGR2):c.1408T>G (p.Ser470Ala)
|
|
|
NM_000399.5(EGR2):c.1414C>A (p.Arg472=)
|
|
|
NM_000399.5(EGR2):c.1414C>G (p.Arg472Gly)
|
rs1353824847
|
|
NM_000399.5(EGR2):c.1421G>A (p.Arg474Gln)
|
|
|
NM_000399.5(EGR2):c.1425A>C (p.Thr475=)
|
|
|
NM_000399.5(EGR2):c.1430G>C (p.Ter477Ser)
|
|
|
NM_000399.5(EGR2):c.151A>G (p.Met51Val)
|
rs1842254660
|
|
NM_000399.5(EGR2):c.154A>C (p.Asn52His)
|
rs1842254352
|
|
NM_000399.5(EGR2):c.157G>T (p.Gly53Ter)
|
|
|
NM_000399.5(EGR2):c.15G>T (p.Lys5Asn)
|
|
|
NM_000399.5(EGR2):c.166G>A (p.Gly56Arg)
|
rs377204675
|
|
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.182A>G (p.Asn61Ser)
|
|
|
NM_000399.5(EGR2):c.184A>G (p.Ile62Val)
|
|
|
NM_000399.5(EGR2):c.18C>T (p.Ala6=)
|
rs1225211720
|
|
NM_000399.5(EGR2):c.190A>G (p.Met64Val)
|
rs1035411608
|
|
NM_000399.5(EGR2):c.193A>G (p.Thr65Ala)
|
|
|
NM_000399.5(EGR2):c.198A>C (p.Gly66=)
|
rs201770282
|
|
NM_000399.5(EGR2):c.200AGA[3] (p.Lys68dup)
|
rs1245170375
|
|
NM_000399.5(EGR2):c.202A>C (p.Lys68Gln)
|
rs1042629449
|
|
NM_000399.5(EGR2):c.206G>A (p.Arg69Lys)
|
rs776869045
|
|
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.217C>A (p.Leu73Ile)
|
rs2132707494
|
|
NM_000399.5(EGR2):c.221C>T (p.Pro74Leu)
|
|
|
NM_000399.5(EGR2):c.22G>C (p.Asp8His)
|
rs2132712977
|
|
NM_000399.5(EGR2):c.235T>A (p.Phe79Ile)
|
rs1842209779
|
|
NM_000399.5(EGR2):c.238G>C (p.Ala80Pro)
|
rs1158907439
|
|
NM_000399.5(EGR2):c.278T>G (p.Met93Arg)
|
rs200488421
|
|
NM_000399.5(EGR2):c.292A>G (p.Ile98Val)
|
|
|
NM_000399.5(EGR2):c.293T>C (p.Ile98Thr)
|
rs1589081791
|
|
NM_000399.5(EGR2):c.311G>A (p.Gly104Asp)
|
|
|
NM_000399.5(EGR2):c.339C>A (p.Ile113=)
|
rs1842207132
|
|
NM_000399.5(EGR2):c.356G>C (p.Gly119Ala)
|
|
|
NM_000399.5(EGR2):c.364C>T (p.Gln122Ter)
|
rs1842206449
|
|
NM_000399.5(EGR2):c.379C>G (p.Pro127Ala)
|
rs1842205838
|
|
NM_000399.5(EGR2):c.382_387del (p.Ala128_Ser129del)
|
rs780288079
|
|
NM_000399.5(EGR2):c.384T>A (p.Ala128=)
|
|
|
NM_000399.5(EGR2):c.388A>G (p.Thr130Ala)
|
rs1564707625
|
|
NM_000399.5(EGR2):c.398C>T (p.Ser133Leu)
|
|
|
NM_000399.5(EGR2):c.410C>A (p.Thr137Asn)
|
rs1017236982
|
|
NM_000399.5(EGR2):c.415G>T (p.Ala139Ser)
|
rs2132706614
|
|
NM_000399.5(EGR2):c.417C>T (p.Ala139=)
|
rs1842204239
|
|
NM_000399.5(EGR2):c.426C>T (p.Asn142=)
|
|
|
NM_000399.5(EGR2):c.428C>A (p.Pro143Gln)
|
rs1327438695
|
|
NM_000399.5(EGR2):c.430C>T (p.Leu144=)
|
|
|
NM_000399.5(EGR2):c.443C>A (p.Pro148His)
|
|
|
NM_000399.5(EGR2):c.451G>A (p.Val151Met)
|
rs1842202676
|
|
NM_000399.5(EGR2):c.458C>A (p.Thr153Asn)
|
rs1414598345
|
|
NM_000399.5(EGR2):c.458C>T (p.Thr153Ile)
|
rs1414598345
|
|
NM_000399.5(EGR2):c.469A>T (p.Thr157Ser)
|
|
|
NM_000399.5(EGR2):c.46G>A (p.Gly16Ser)
|
rs2132712905
|
|
NM_000399.5(EGR2):c.475C>A (p.Pro159Thr)
|
|
|
NM_000399.5(EGR2):c.480C>T (p.Asp160=)
|
rs1842201460
|
|
NM_000399.5(EGR2):c.500C>T (p.Pro167Leu)
|
rs1842200895
|
|
NM_000399.5(EGR2):c.501G>A (p.Pro167=)
|
|
|
NM_000399.5(EGR2):c.504del (p.Pro169fs)
|
|
|
NM_000399.5(EGR2):c.506C>T (p.Pro169Leu)
|
|
|
NM_000399.5(EGR2):c.508CCT[3] (p.Pro173del)
|
|
|
NM_000399.5(EGR2):c.508CCT[5] (p.Pro173dup)
|
rs756443238
|
|
NM_000399.5(EGR2):c.518_520del (p.Pro173_Tyr174delinsHis)
|
|
|
NM_000399.5(EGR2):c.535G>A (p.Gly179Arg)
|
|
|
NM_000399.5(EGR2):c.53T>G (p.Val18Gly)
|
rs1842258303
|
|
NM_000399.5(EGR2):c.551A>G (p.Asp184Gly)
|
rs1589081367
|
|
NM_000399.5(EGR2):c.560C>A (p.Ala187Glu)
|
rs372491511
|
|
NM_000399.5(EGR2):c.564C>T (p.Phe188=)
|
rs776212792
|
|
NM_000399.5(EGR2):c.594_596dup (p.Ser199dup)
|
rs750792592
|
|
NM_000399.5(EGR2):c.601G>T (p.Ala201Ser)
|
rs1697158798
|
|
NM_000399.5(EGR2):c.614C>T (p.Pro205Leu)
|
rs2132705403
|
|
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.65C>G (p.Ser22Cys)
|
|
|
NM_000399.5(EGR2):c.676T>A (p.Tyr226Asn)
|
|
|
NM_000399.5(EGR2):c.684A>T (p.Gly228=)
|
rs1021225769
|
|
NM_000399.5(EGR2):c.712C>T (p.Leu238=)
|
|
|
NM_000399.5(EGR2):c.718G>A (p.Gly240Ser)
|
rs1842190634
|
|
NM_000399.5(EGR2):c.719G>A (p.Gly240Asp)
|
|
|
NM_000399.5(EGR2):c.721A>G (p.Thr241Ala)
|
rs1842190431
|
|
NM_000399.5(EGR2):c.723A>C (p.Thr241=)
|
|
|
NM_000399.5(EGR2):c.737G>A (p.Arg246His)
|
rs1060502676
|
|
NM_000399.5(EGR2):c.73A>G (p.Ile25Val)
|
rs1178718119
|
|
NM_000399.5(EGR2):c.74T>C (p.Ile25Thr)
|
rs763131472
|
|
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.769C>T (p.Arg257Trp)
|
rs368282744
|
|
NM_000399.5(EGR2):c.770G>A (p.Arg257Gln)
|
rs780441708
|
|
NM_000399.5(EGR2):c.779C>A (p.Pro260His)
|
rs1842187873
|
|
NM_000399.5(EGR2):c.77A>G (p.Tyr26Cys)
|
|
|
NM_000399.5(EGR2):c.780T>A (p.Pro260=)
|
rs1465091838
|
|
NM_000399.5(EGR2):c.791C>T (p.Pro264Leu)
|
rs1842187600
|
|
NM_000399.5(EGR2):c.79C>T (p.Pro27Ser)
|
|
|
NM_000399.5(EGR2):c.805C>T (p.Arg269Cys)
|
rs1842186521
|
|
NM_000399.5(EGR2):c.808A>G (p.Asn270Asp)
|
|
|
NM_000399.5(EGR2):c.815C>T (p.Thr272Ile)
|
rs774959041
|
|
NM_000399.5(EGR2):c.816C>A (p.Thr272=)
|
rs863224359
|
|
NM_000399.5(EGR2):c.818T>C (p.Leu273Pro)
|
|
|
NM_000399.5(EGR2):c.830G>A (p.Ser277Asn)
|
rs761862879
|
|
NM_000399.5(EGR2):c.843C>G (p.Thr281=)
|
|
|
NM_000399.5(EGR2):c.843C>T (p.Thr281=)
|
rs375890313
|
|
NM_000399.5(EGR2):c.844G>A (p.Gly282Arg)
|
|
|
NM_000399.5(EGR2):c.867C>T (p.Ser289=)
|
|
|
NM_000399.5(EGR2):c.868G>A (p.Glu290Lys)
|
rs1842182998
|
|
NM_000399.5(EGR2):c.874C>T (p.Pro292Ser)
|
|
|
NM_000399.5(EGR2):c.875C>T (p.Pro292Leu)
|
|
|
NM_000399.5(EGR2):c.878G>A (p.Arg293Gln)
|
rs2132703986
|
|
NM_000399.5(EGR2):c.879G>C (p.Arg293=)
|
|
|
NM_000399.5(EGR2):c.882G>C (p.Leu294=)
|
|
|
NM_000399.5(EGR2):c.897AGC[3] (p.Ala308_Ala309del)
|
|
|
NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup)
|
rs746688326
|
|
NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup)
|
rs746688326
|
|
NM_000399.5(EGR2):c.910GCC[3] (p.Ala307_Ala309del)
|
rs753747037
|
|
NM_000399.5(EGR2):c.910GCC[4] (p.Ala308_Ala309del)
|
|
|
NM_000399.5(EGR2):c.910GCC[5] (p.Ala309del)
|
rs753747037
|
|
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup)
|
rs753747037
|
|
NM_000399.5(EGR2):c.910GCC[8] (p.Ala308_Ala309dup)
|
rs753747037
|
|
NM_000399.5(EGR2):c.911C>T (p.Ala304Val)
|
rs1440557742
|
|
NM_000399.5(EGR2):c.912C>T (p.Ala304=)
|
|
|
NM_000399.5(EGR2):c.913G>A (p.Ala305Thr)
|
|
|
NM_000399.5(EGR2):c.916G>A (p.Ala306Thr)
|
rs1589080827
|
|
NM_000399.5(EGR2):c.91C>G (p.Leu31Val)
|
rs535186925
|
|
NM_000399.5(EGR2):c.91C>T (p.Leu31Phe)
|
rs535186925
|
|
NM_000399.5(EGR2):c.925G>C (p.Ala309Pro)
|
|
|
NM_000399.5(EGR2):c.929A>G (p.Tyr310Cys)
|
|
|
NM_000399.5(EGR2):c.943C>T (p.Leu315=)
|
|
|
NM_000399.5(EGR2):c.947C>T (p.Pro316Leu)
|
rs1589080747
|
|
NM_000399.5(EGR2):c.953G>C (p.Arg318Pro)
|
rs775751575
|
|
NM_000399.5(EGR2):c.957C>T (p.Pro319=)
|
rs772281054
|
|
NM_000399.5(EGR2):c.958A>G (p.Ile320Val)
|
rs2132703451
|
|
NM_000399.5(EGR2):c.978C>T (p.Tyr326=)
|
|
|
NM_000399.5(EGR2):c.983A>G (p.Asn328Ser)
|
|
|
NM_000399.5(EGR2):c.98C>T (p.Ala33Val)
|
|
|
NM_000399.5(EGR2):c.990C>G (p.Pro330=)
|
|
|
NM_000530.8(MPZ):c.101C>G (p.Thr34Ser)
|
rs1571820317
|
|
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)
|
rs1571820317
|
|
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)
|
rs121913596
|
|
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly)
|
rs1553259811
|
|
NM_000530.8(MPZ):c.105C>A (p.Asp35Glu)
|
|
|
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly)
|
rs864622732
|
|
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)
|
rs864622732
|
|
NM_000530.8(MPZ):c.107G>A (p.Arg36Lys)
|
rs1670288965
|
|
NM_000530.8(MPZ):c.108G>C (p.Arg36Ser)
|
rs1670288915
|
|
NM_000530.8(MPZ):c.109G>A (p.Glu37Lys)
|
rs1670288858
|
|
NM_000530.8(MPZ):c.10G>T (p.Gly4Trp)
|
rs1558155851
|
|
NM_000530.8(MPZ):c.113T>A (p.Val38Asp)
|
rs1670288801
|
|
NM_000530.8(MPZ):c.114C>G (p.Val38=)
|
rs1571820275
|
|
NM_000530.8(MPZ):c.128G>C (p.Gly43Ala)
|
|
|
NM_000530.8(MPZ):c.129_136del (p.Ser44fs)
|
rs760730366
|
|
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
|
rs1571820186
|
|
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598
|
|
NM_000530.8(MPZ):c.134G>A (p.Arg45Gln)
|
rs760227243
|
|
NM_000530.8(MPZ):c.136G>A (p.Val46Met)
|
rs1571820190
|
|
NM_000530.8(MPZ):c.136G>C (p.Val46Leu)
|
rs1571820190
|
|
NM_000530.8(MPZ):c.13G>T (p.Ala5Ser)
|
|
|
NM_000530.8(MPZ):c.140C>T (p.Thr47Ile)
|
|
|
NM_000530.8(MPZ):c.142C>G (p.Leu48Val)
|
rs1180998665
|
|
NM_000530.8(MPZ):c.142C>T (p.Leu48=)
|
|
|
NM_000530.8(MPZ):c.145C>A (p.His49Asn)
|
|
|
NM_000530.8(MPZ):c.151T>A (p.Ser51Thr)
|
|
|
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)
|
rs1553259790
|
|
NM_000530.8(MPZ):c.154T>G (p.Phe52Val)
|
rs1558154644
|
|
NM_000530.8(MPZ):c.156C>G (p.Phe52Leu)
|
rs2102260015
|
|
NM_000530.8(MPZ):c.159G>A (p.Trp53Ter)
|
rs1571820100
|
|
NM_000530.8(MPZ):c.159G>C (p.Trp53Cys)
|
rs1571820100
|
|
NM_000530.8(MPZ):c.159G>T (p.Trp53Cys)
|
|
|
NM_000530.8(MPZ):c.160T>G (p.Ser54Ala)
|
rs1553259785
|
|
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)
|
rs1571820092
|
|
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)
|
rs1571820067
|
|
NM_000530.8(MPZ):c.168G>A (p.Glu56=)
|
rs757135674
|
|
NM_000530.8(MPZ):c.171G>A (p.Trp57Ter)
|
rs2102259979
|
|
NM_000530.8(MPZ):c.172G>T (p.Val58Phe)
|
rs1341175303
|
|
NM_000530.8(MPZ):c.173T>A (p.Val58Asp)
|
rs1571820049
|
|
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu)
|
rs879254297
|
|
NM_000530.8(MPZ):c.178G>A (p.Asp60Asn)
|
|
|
NM_000530.8(MPZ):c.178G>C (p.Asp60His)
|
rs121913604
|
|
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)
|
rs797044845
|
|
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)
|
rs786204119
|
|
NM_000530.8(MPZ):c.182A>T (p.Asp61Val)
|
|
|
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)
|
rs121913585
|
|
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)
|
rs121913585
|
|
NM_000530.8(MPZ):c.188_190del (p.Ser63del)
|
rs879254109
|
|
NM_000530.8(MPZ):c.18C>T (p.Pro6=)
|
|
|
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala)
|
rs1553259760
|
|
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)
|
rs1571819964
|
|
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile)
|
rs1571819964
|
|
NM_000530.8(MPZ):c.195C>G (p.Thr65=)
|
|
|
NM_000530.8(MPZ):c.196T>C (p.Trp66Arg)
|
rs1060503421
|
|
NM_000530.8(MPZ):c.196T>G (p.Trp66Gly)
|
|
|
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)
|
rs201720099
|
|
NM_000530.8(MPZ):c.200_201del (p.Arg67fs)
|
rs1670284480
|
|
NM_000530.8(MPZ):c.201C>T (p.Arg67=)
|
rs1571819920
|
|
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)
|
rs1571819906
|
|
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)
|
rs1571819890
|
|
NM_000530.8(MPZ):c.209C>A (p.Pro70His)
|
|
|
NM_000530.8(MPZ):c.20C>G (p.Ser7Ter)
|
rs1558155838
|
|
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)
|
rs573007540
|
|
NM_000530.8(MPZ):c.212A>G (p.Glu71Gly)
|
|
|
NM_000530.8(MPZ):c.213A>T (p.Glu71Asp)
|
rs1060503422
|
|
NM_000530.8(MPZ):c.215G>C (p.Gly72Ala)
|
|
|
NM_000530.8(MPZ):c.215G>T (p.Gly72Val)
|
rs773724920
|
|
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.217G>T (p.Gly73Cys)
|
rs1670283272
|
|
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr)
|
rs2102259788
|
|
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)
|
rs121913597
|
|
NM_000530.8(MPZ):c.232T>C (p.Ser78Pro)
|
rs2102259765
|
|
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)
|
rs121913601
|
|
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)
|
rs121913601
|
|
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.234G>A (p.Ser78=)
|
rs368149365
|
|
NM_000530.8(MPZ):c.234G>T (p.Ser78=)
|
|
|
NM_000530.8(MPZ):c.235-1G>T
|
rs1571819375
|
|
NM_000530.8(MPZ):c.235-2A>G
|
|
|
NM_000530.8(MPZ):c.235A>G (p.Ile79Val)
|
|
|
NM_000530.8(MPZ):c.241C>T (p.His81Tyr)
|
rs281865123
|
|
NM_000530.8(MPZ):c.242A>G (p.His81Arg)
|
rs121913594
|
|
NM_000530.8(MPZ):c.242A>T (p.His81Leu)
|
rs121913594
|
|
NM_000530.8(MPZ):c.243C>T (p.His81=)
|
rs1571819354
|
|
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)
|
rs281865124
|
|
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)
|
rs1553259707
|
|
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)
|
rs1553259707
|
|
NM_000530.8(MPZ):c.250A>G (p.Lys84Glu)
|
|
|
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter)
|
rs1553259703
|
|
NM_000530.8(MPZ):c.257A>C (p.Gln86Pro)
|
rs1670269181
|
|
NM_000530.8(MPZ):c.258_263dup (p.Tyr88Ter)
|
|
|
NM_000530.8(MPZ):c.263A>C (p.Tyr88Ser)
|
rs1553259700
|
|
NM_000530.8(MPZ):c.263A>G (p.Tyr88Cys)
|
rs1553259700
|
|
NM_000530.8(MPZ):c.266T>A (p.Ile89Asn)
|
rs267607244
|
|
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs)
|
rs1553259697
|
|
NM_000530.8(MPZ):c.268G>A (p.Asp90Asn)
|
rs1558154208
|
|
NM_000530.8(MPZ):c.26G>A (p.Ser9Asn)
|
|
|
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)
|
rs121913584
|
|
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys)
|
rs1383238492
|
|
NM_000530.8(MPZ):c.274G>A (p.Val92Met)
|
rs267607245
|
|
NM_000530.8(MPZ):c.276G>A (p.Val92=)
|
rs1558154193
|
|
NM_000530.8(MPZ):c.277G>A (p.Gly93Arg)
|
rs1553259691
|
|
NM_000530.8(MPZ):c.277G>C (p.Gly93Arg)
|
rs1553259691
|
|
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)
|
rs1060503418
|
|
NM_000530.8(MPZ):c.278G>T (p.Gly93Val)
|
rs1060503418
|
|
NM_000530.8(MPZ):c.282C>T (p.Thr94=)
|
|
|
NM_000530.8(MPZ):c.283T>C (p.Phe95Leu)
|
|
|
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)
|
rs121913583
|
|
NM_000530.8(MPZ):c.290A>T (p.Glu97Val)
|
rs121913606
|
|
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)
|
rs121913589
|
|
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu)
|
rs121913589
|
|
NM_000530.8(MPZ):c.295A>C (p.Ile99Leu)
|
rs2102259152
|
|
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)
|
rs1571819182
|
|
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter)
|
rs1553259683
|
|
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)
|
rs1060503423
|
|
NM_000530.8(MPZ):c.301dup (p.Trp101fs)
|
|
|
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)
|
rs1017715903
|
|
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)
|
rs1558154149
|
|
NM_000530.8(MPZ):c.303G>T (p.Trp101Cys)
|
rs1558154149
|
|
NM_000530.8(MPZ):c.304_305insC (p.Val102fs)
|
|
|
NM_000530.8(MPZ):c.305T>A (p.Val102Glu)
|
rs2102259119
|
|
NM_000530.8(MPZ):c.305_310del (p.Val102_Gly103del)
|
rs1060503419
|
|
NM_000530.8(MPZ):c.306del (p.Asp104fs)
|
rs281865125
|
|
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)
|
rs121913600
|
|
NM_000530.8(MPZ):c.309G>T (p.Gly103=)
|
rs1131691852
|
|
NM_000530.8(MPZ):c.310G>A (p.Asp104Asn)
|
rs777378929
|
|
NM_000530.8(MPZ):c.310G>T (p.Asp104Tyr)
|
rs777378929
|
|
NM_000530.8(MPZ):c.311A>G (p.Asp104Gly)
|
rs1670265880
|
|
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu)
|
rs1670265812
|
|
NM_000530.8(MPZ):c.313C>T (p.Pro105Ser)
|
rs121913609
|
|
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu)
|
rs786204215
|
|
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)
|
rs1571819084
|
|
NM_000530.8(MPZ):c.323A>G (p.Lys108Arg)
|
|
|
NM_000530.8(MPZ):c.323del (p.Lys108fs)
|
rs2102259042
|
|
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn)
|
rs1060503420
|
|
NM_000530.8(MPZ):c.325G>C (p.Asp109His)
|
rs1060503420
|
|
NM_000530.8(MPZ):c.326A>G (p.Asp109Gly)
|
rs1670264965
|
|
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp)
|
rs1468741050
|
|
NM_000530.8(MPZ):c.331T>C (p.Ser111Pro)
|
rs1553259664
|
|
NM_000530.8(MPZ):c.332C>A (p.Ser111Tyr)
|
rs1553259663
|
|
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys)
|
rs1553259663
|
|
NM_000530.8(MPZ):c.333C>T (p.Ser111=)
|
rs2102258993
|
|
NM_000530.8(MPZ):c.333_336del (p.Ile112fs)
|
rs1670264356
|
|
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr)
|
rs1553259662
|
|
NM_000530.8(MPZ):c.337G>T (p.Val113Phe)
|
rs281865126
|
|
NM_000530.8(MPZ):c.341T>A (p.Ile114Lys)
|
|
|
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr)
|
rs267607241
|
|
NM_000530.8(MPZ):c.342A>G (p.Ile114Met)
|
rs1571818994
|
|
NM_000530.8(MPZ):c.345C>A (p.His115Gln)
|
rs752484126
|
|
NM_000530.8(MPZ):c.345del (p.His115fs)
|
rs2102258958
|
|
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)
|
rs281865130
|
|
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile)
|
|
|
NM_000530.8(MPZ):c.34C>G (p.Pro12Ala)
|
|
|
NM_000530.8(MPZ):c.350T>C (p.Leu117Pro)
|
rs2102258946
|
|
NM_000530.8(MPZ):c.350T>G (p.Leu117Arg)
|
rs2102258946
|
|
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)
|
rs879254038
|
|
NM_000530.8(MPZ):c.361G>A (p.Asp121Asn)
|
rs1670263519
|
|
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly)
|
rs1571818953
|
|
NM_000530.8(MPZ):c.364A>G (p.Asn122Asp)
|
rs1670263376
|
|
NM_000530.8(MPZ):c.368_369delinsCT (p.Gly123Ala)
|
rs878854030
|
|
NM_000530.8(MPZ):c.369C>T (p.Gly123=)
|
|
|
NM_000530.8(MPZ):c.370A>T (p.Thr124Ser)
|
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_000530.8(MPZ):c.374T>C (p.Phe125Ser)
|
|
|
NM_000530.8(MPZ):c.377C>G (p.Thr126Ser)
|
rs1230674741
|
|
NM_000530.8(MPZ):c.378T>C (p.Thr126=)
|
|
|
NM_000530.8(MPZ):c.379T>G (p.Cys127Gly)
|
|
|
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)
|
rs797044941
|
|
NM_000530.8(MPZ):c.380G>C (p.Cys127Ser)
|
rs797044941
|
|
NM_000530.8(MPZ):c.380_383dup (p.Asp128delinsGluTer)
|
rs1553259651
|
|
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn)
|
rs267607243
|
|
NM_000530.8(MPZ):c.382G>C (p.Asp128His)
|
rs267607243
|
|
NM_000530.8(MPZ):c.382G>T (p.Asp128Tyr)
|
rs267607243
|
|
NM_000530.8(MPZ):c.385G>T (p.Val129Phe)
|
|
|
NM_000530.8(MPZ):c.386T>G (p.Val129Gly)
|
rs2102258829
|
|
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
|
rs281865127
|
|
NM_000530.8(MPZ):c.391A>C (p.Asn131His)
|
rs1571818826
|
|
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser)
|
rs1571818819
|
|
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)
|
rs121913599
|
|
NM_000530.8(MPZ):c.394C>G (p.Pro132Ala)
|
rs1553259649
|
|
NM_000530.8(MPZ):c.394C>T (p.Pro132Ser)
|
rs1553259649
|
|
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)
|
rs1553259648
|
|
NM_000530.8(MPZ):c.397C>G (p.Pro133Ala)
|
rs1553259648
|
|
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)
|
rs1553259648
|
|
NM_000530.8(MPZ):c.398C>G (p.Pro133Arg)
|
rs1558154010
|
|
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)
|
rs1553259647
|
|
NM_000530.8(MPZ):c.401A>C (p.Asp134Ala)
|
rs1571818775
|
|
NM_000530.8(MPZ):c.403A>T (p.Ile135Leu)
|
rs879253858
|
|
NM_000530.8(MPZ):c.405_407del (p.Ile135_Val136delinsMet)
|
rs1553259646
|
|
NM_000530.8(MPZ):c.407T>A (p.Val136Glu)
|
rs1571818744
|
|
NM_000530.8(MPZ):c.407T>G (p.Val136Gly)
|
rs1571818744
|
|
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)
|
rs121913588
|
|
NM_000530.8(MPZ):c.411C>T (p.Gly137=)
|
rs1558153994
|
|
NM_000530.8(MPZ):c.412A>C (p.Lys138Gln)
|
rs1571818721
|
|
NM_000530.8(MPZ):c.412A>G (p.Lys138Glu)
|
rs1571818721
|
|
NM_000530.8(MPZ):c.413A>C (p.Lys138Thr)
|
|
|
NM_000530.8(MPZ):c.415_417del (p.Thr139del)
|
|
|
NM_000530.8(MPZ):c.418T>C (p.Ser140Pro)
|
|
|
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys)
|
rs863224449
|
|
NM_000530.8(MPZ):c.419C>T (p.Ser140Phe)
|
rs863224449
|
|
NM_000530.8(MPZ):c.424G>A (p.Val142Ile)
|
|
|
NM_000530.8(MPZ):c.424G>T (p.Val142Phe)
|
rs876661257
|
|
NM_000530.8(MPZ):c.424del (p.Val142fs)
|
rs2102258700
|
|
NM_000530.8(MPZ):c.426_431del (p.Thr143_Leu144del)
|
|
|
NM_000530.8(MPZ):c.42G>A (p.Leu14=)
|
rs1670359930
|
|
NM_000530.8(MPZ):c.431_433del (p.Leu144_Tyr145delinsHis)
|
rs1670258438
|
|
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)
|
rs121913603
|
|
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)
|
rs1553259643
|
|
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)
|
rs1571818632
|
|
NM_000530.8(MPZ):c.437T>C (p.Val146Ala)
|
rs1571818614
|
|
NM_000530.8(MPZ):c.440T>G (p.Phe147Cys)
|
rs1670257659
|
|
NM_000530.8(MPZ):c.448+10G>A
|
rs1224416223
|
|
NM_000530.8(MPZ):c.448+12G>T
|
rs2102258615
|
|
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.448+1G>A
|
|
|
NM_000530.8(MPZ):c.448+1G>T
|
rs1407955132
|
|
NM_000530.8(MPZ):c.448+2T>A
|
|
|
NM_000530.8(MPZ):c.448+2T>C
|
rs1670257221
|
|
NM_000530.8(MPZ):c.448+2T>G
|
rs1670257221
|
|
NM_000530.8(MPZ):c.448G>A (p.Val150Met)
|
rs1558153967
|
|
NM_000530.8(MPZ):c.448G>T (p.Val150Leu)
|
|
|
NM_000530.8(MPZ):c.449-14C>T
|
|
|
NM_000530.8(MPZ):c.449-1G>C
|
rs1571818339
|
|
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
|
rs754068936
|
|
NM_000530.8(MPZ):c.463G>A (p.Gly155Arg)
|
|
|
NM_000530.8(MPZ):c.466G>T (p.Val156Phe)
|
rs775916243
|
|
NM_000530.8(MPZ):c.472C>T (p.Leu158=)
|
|
|
NM_000530.8(MPZ):c.474G>A (p.Leu158=)
|
|
|
NM_000530.8(MPZ):c.474G>C (p.Leu158=)
|
|
|
NM_000530.8(MPZ):c.479C>G (p.Ala160Gly)
|
|
|
NM_000530.8(MPZ):c.486C>G (p.Ile162Met)
|
rs267607246
|
|
NM_000530.8(MPZ):c.486del (p.Ile162fs)
|
rs1571818248
|
|
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)
|
rs281865128
|
|
NM_000530.8(MPZ):c.488G>C (p.Gly163Ala)
|
|
|
NM_000530.8(MPZ):c.489G>A (p.Gly163=)
|
|
|
NM_000530.8(MPZ):c.491dup (p.Val165fs)
|
rs1558153783
|
|
NM_000530.8(MPZ):c.496del (p.Leu166fs)
|
|
|
NM_000530.8(MPZ):c.498C>A (p.Leu166=)
|
rs1224818819
|
|
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)
|
rs121913586
|
|
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)
|
rs121913586
|
|
NM_000530.8(MPZ):c.49C>T (p.Leu17=)
|
rs2102262770
|
|
NM_000530.8(MPZ):c.506_507delinsAC (p.Val169Asp)
|
|
|
NM_000530.8(MPZ):c.508_511del (p.Leu170fs)
|
|
|
NM_000530.8(MPZ):c.529T>C (p.Tyr177His)
|
|
|
NM_000530.8(MPZ):c.533_534del (p.Val178fs)
|
|
|
NM_000530.8(MPZ):c.538C>G (p.Arg180Gly)
|
rs1385085988
|
|
NM_000530.8(MPZ):c.552A>G (p.Leu184=)
|
|
|
NM_000530.8(MPZ):c.555C>T (p.Arg185=)
|
|
|
NM_000530.8(MPZ):c.558G>T (p.Arg186Ser)
|
|
|
NM_000530.8(MPZ):c.560_563dup (p.Ala189fs)
|
rs1553259566
|
|
NM_000530.8(MPZ):c.566C>T (p.Ala189Val)
|
rs1268318757
|
|
NM_000530.8(MPZ):c.571C>T (p.Gln191Ter)
|
rs2102257979
|
|
NM_000530.8(MPZ):c.575G>A (p.Arg192Lys)
|
|
|
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+3A>T
|
rs1670241598
|
|
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.589A>G (p.Met197Val)
|
rs567817208
|
|
NM_000530.8(MPZ):c.590T>G (p.Met197Arg)
|
|
|
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln)
|
rs770994564
|
|
NM_000530.8(MPZ):c.595A>G (p.Lys199Glu)
|
rs879254142
|
|
NM_000530.8(MPZ):c.597G>A (p.Lys199=)
|
rs777928293
|
|
NM_000530.8(MPZ):c.599G>A (p.Gly200Glu)
|
|
|
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)
|
rs932826788
|
|
NM_000530.8(MPZ):c.601A>T (p.Lys201Ter)
|
|
|
NM_000530.8(MPZ):c.606G>A (p.Leu202=)
|
|
|
NM_000530.8(MPZ):c.610A>G (p.Lys204Glu)
|
rs1064796625
|
|
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)
|
rs1670234637
|
|
NM_000530.8(MPZ):c.614C>T (p.Pro205Leu)
|
|
|
NM_000530.8(MPZ):c.618A>T (p.Gly206=)
|
|
|
NM_000530.8(MPZ):c.638_639del (p.Gly213fs)
|
rs2102257572
|
|
NM_000530.8(MPZ):c.641G>T (p.Arg214Leu)
|
|
|
NM_000530.8(MPZ):c.645+10A>G
|
rs1670232533
|
|
NM_000530.8(MPZ):c.645G>A (p.Gln215=)
|
rs1670232790
|
|
NM_000530.8(MPZ):c.646-10_650del
|
rs863225026
|
|
NM_000530.8(MPZ):c.646-12C>A
|
|
|
NM_000530.8(MPZ):c.646-16_654dup
|
|
|
NM_000530.8(MPZ):c.646-20T>G
|
|
|
NM_000530.8(MPZ):c.646-2A>G
|
rs1670228122
|
|
NM_000530.8(MPZ):c.646-3C>A
|
rs750756212
|
|
NM_000530.8(MPZ):c.646-5C>A
|
rs201115971
|
|
NM_000530.8(MPZ):c.646-5C>G
|
rs201115971
|
|
NM_000530.8(MPZ):c.646-7C>G
|
rs377495735
|
|
NM_000530.8(MPZ):c.646A>G (p.Thr216Ala)
|
|
|
NM_000530.8(MPZ):c.646dup (p.Thr216fs)
|
rs1553259511
|
|
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.649C>G (p.Pro217Ala)
|
rs281865132
|
|
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.67+4A>G
|
rs1571822765
|
|
NM_000530.8(MPZ):c.67+5G>T
|
rs1670359056
|
|
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247
|
|
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter)
|
rs1571817154
|
|
NM_000530.8(MPZ):c.67G>A (p.Val23Met)
|
|
|
NM_000530.8(MPZ):c.68-11T>C
|
|
|
NM_000530.8(MPZ):c.68-1G>A
|
rs1057518021
|
|
NM_000530.8(MPZ):c.68-1G>C
|
rs1057518021
|
|
NM_000530.8(MPZ):c.68-3C>A
|
rs1182729605
|
|
NM_000530.8(MPZ):c.68-3C>T
|
|
|
NM_000530.8(MPZ):c.68-5T>G
|
rs1553259835
|
|
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)
|
rs1571817146
|
|
NM_000530.8(MPZ):c.685A>G (p.Thr229Ala)
|
|
|
NM_000530.8(MPZ):c.687C>T (p.Thr229=)
|
|
|
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter)
|
rs1670224976
|
|
NM_000530.8(MPZ):c.703A>G (p.Lys235Glu)
|
rs2102257203
|
|
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
|
rs1670224859
|
|
NM_000530.8(MPZ):c.714G>C (p.Lys238Asn)
|
|
|
NM_000530.8(MPZ):c.722G>C (p.Gly241Ala)
|
rs775575673
|
|
NM_000530.8(MPZ):c.728C>T (p.Ser243Phe)
|
|
|
NM_000530.8(MPZ):c.738T>C (p.Asp246=)
|
rs1571816986
|
|
NM_000530.8(MPZ):c.742A>G (p.Lys248Glu)
|
|
|
NM_000530.8(MPZ):c.745T>C (p.Ter249Gln)
|
rs1670223250
|
|
NM_000530.8(MPZ):c.75C>T (p.Ser25=)
|
|
|
NM_000530.8(MPZ):c.77del (p.Pro26fs)
|
rs1558154754
|
|
NM_000530.8(MPZ):c.78G>A (p.Pro26=)
|
|
|
NM_000530.8(MPZ):c.79G>C (p.Ala27Pro)
|
|
|
NM_000530.8(MPZ):c.88A>C (p.Ile30Leu)
|
rs1386345719
|
|
NM_000530.8(MPZ):c.88A>G (p.Ile30Val)
|
rs1386345719
|
|
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)
|
rs281865121
|
|
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser)
|
rs281865121
|
|
NM_000530.8(MPZ):c.90C>G (p.Ile30Met)
|
rs770546306
|
|
NM_000530.8(MPZ):c.90C>T (p.Ile30=)
|
|
|
NM_000530.8(MPZ):c.95T>G (p.Val32Gly)
|
rs1670289570
|
|
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe)
|
rs771372609
|
|