NM_001399.5(EDA):c.706+11_706+12del
|
rs10579679
|
0.45223
|
NM_001399.5(EDA):c.742-11C>T
|
rs2296765
|
0.30200
|
NM_001399.5(EDA):c.381C>T (p.Ser127=)
|
rs148738342
|
0.00480
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_001399.5(EDA):c.458G>A (p.Arg153His)
|
rs140642493
|
0.00106
|
NM_001399.5(EDA):c.1001G>A (p.Arg334His)
|
rs142948132
|
0.00042
|
NM_001399.5(EDA):c.60A>C (p.Arg20=)
|
rs183801635
|
0.00033
|
NM_001399.5(EDA):c.464G>A (p.Arg155His)
|
rs144403117
|
0.00026
|
NM_001399.5(EDA):c.833C>G (p.Thr278Ser)
|
rs375753764
|
0.00016
|
NM_001399.5(EDA):c.435A>G (p.Pro145=)
|
rs146844463
|
0.00014
|
NM_001399.5(EDA):c.390G>T (p.Gly130=)
|
rs143746851
|
0.00012
|
NM_001399.5(EDA):c.491A>C (p.Glu164Ala)
|
rs397516663
|
0.00008
|
NM_001399.5(EDA):c.741+9G>A
|
rs751258727
|
0.00008
|
NM_001399.5(EDA):c.526+10T>G
|
rs957016563
|
0.00007
|
NM_001399.5(EDA):c.870C>T (p.Ser290=)
|
rs760869403
|
0.00007
|
NM_001399.5(EDA):c.1070G>A (p.Arg357Gln)
|
rs61747506
|
0.00006
|
NM_001399.5(EDA):c.717T>G (p.Asp239Glu)
|
rs766810445
|
0.00005
|
NM_001399.5(EDA):c.1080C>T (p.Ile360=)
|
rs375844339
|
0.00004
|
NM_001399.5(EDA):c.1137C>T (p.Phe379=)
|
rs780582849
|
0.00004
|
NM_001399.5(EDA):c.469A>G (p.Asn157Asp)
|
rs374824991
|
0.00004
|
NM_001399.5(EDA):c.707-9A>G
|
rs369843699
|
0.00004
|
NM_001399.5(EDA):c.804T>C (p.Gly268=)
|
rs779193585
|
0.00004
|
NM_001399.5(EDA):c.808G>A (p.Val270Met)
|
rs748191518
|
0.00004
|
NM_001399.5(EDA):c.1014G>A (p.Thr338=)
|
rs750674219
|
0.00003
|
NM_001399.5(EDA):c.1094T>C (p.Val365Ala)
|
rs397516654
|
0.00003
|
NM_001399.5(EDA):c.1098C>T (p.His366=)
|
rs1322090620
|
0.00003
|
NM_001399.5(EDA):c.111G>A (p.Gly37=)
|
rs1301485954
|
0.00003
|
NM_001399.5(EDA):c.1124A>G (p.Lys375Arg)
|
rs750739438
|
0.00003
|
NM_001399.5(EDA):c.1168G>A (p.Ala390Thr)
|
rs746523921
|
0.00003
|
NM_001399.5(EDA):c.242C>T (p.Ser81Leu)
|
rs780456712
|
0.00003
|
NM_001399.5(EDA):c.277C>T (p.Leu93Phe)
|
rs746479442
|
0.00003
|
NM_001399.5(EDA):c.345A>G (p.Pro115=)
|
rs775366784
|
0.00003
|
NM_001399.5(EDA):c.371A>G (p.His124Arg)
|
rs751470511
|
0.00003
|
NM_001399.5(EDA):c.503-8T>C
|
rs752434802
|
0.00003
|
NM_001399.5(EDA):c.56A>C (p.Glu19Ala)
|
rs752730106
|
0.00003
|
NM_001399.5(EDA):c.1083C>T (p.Ala361=)
|
rs780464771
|
0.00002
|
NM_001399.5(EDA):c.1099G>A (p.Ala367Thr)
|
rs368531049
|
0.00002
|
NM_001399.5(EDA):c.132G>C (p.Leu44=)
|
rs760109372
|
0.00002
|
NM_001399.5(EDA):c.135T>C (p.Gly45=)
|
rs766017052
|
0.00002
|
NM_001399.5(EDA):c.157C>T (p.Leu53Phe)
|
rs974684362
|
0.00002
|
NM_001399.5(EDA):c.301C>T (p.Pro101Ser)
|
rs182251004
|
0.00002
|
NM_001399.5(EDA):c.396+10C>T
|
rs754163471
|
0.00002
|
NM_001399.5(EDA):c.449A>G (p.Glu150Gly)
|
rs764642744
|
0.00002
|
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)
|
rs132630312
|
0.00002
|
NM_001399.5(EDA):c.503-5T>C
|
rs183243858
|
0.00002
|
NM_001399.5(EDA):c.546T>C (p.Pro182=)
|
rs758937877
|
0.00002
|
NM_001399.5(EDA):c.741+5G>T
|
rs763687144
|
0.00002
|
NM_001399.5(EDA):c.759A>G (p.Leu253=)
|
rs757048479
|
0.00002
|
NM_001399.5(EDA):c.1013C>T (p.Thr338Met)
|
rs132630321
|
0.00001
|
NM_001399.5(EDA):c.1071G>A (p.Arg357=)
|
rs1453813427
|
0.00001
|
NM_001399.5(EDA):c.1163C>A (p.Ala388Asp)
|
rs755527924
|
0.00001
|
NM_001399.5(EDA):c.1170A>G (p.Ala390=)
|
rs1373879719
|
0.00001
|
NM_001399.5(EDA):c.234T>C (p.Leu78=)
|
rs1569272277
|
0.00001
|
NM_001399.5(EDA):c.249C>G (p.Thr83=)
|
rs769141538
|
0.00001
|
NM_001399.5(EDA):c.346T>C (p.Leu116=)
|
rs1217340038
|
0.00001
|
NM_001399.5(EDA):c.403C>T (p.Leu135=)
|
rs765510570
|
0.00001
|
NM_001399.5(EDA):c.467G>A (p.Arg156His)
|
rs132630314
|
0.00001
|
NM_001399.5(EDA):c.502+10C>T
|
rs771904661
|
0.00001
|
NM_001399.5(EDA):c.526+5G>C
|
rs397516664
|
0.00001
|
NM_001399.5(EDA):c.558C>T (p.Gly186=)
|
rs1569404832
|
0.00001
|
NM_001399.5(EDA):c.57G>A (p.Glu19=)
|
rs758521262
|
0.00001
|
NM_001399.5(EDA):c.669T>G (p.Pro223=)
|
rs1248603808
|
0.00001
|
NM_001399.5(EDA):c.707-5T>C
|
rs761304256
|
0.00001
|
NM_001399.5(EDA):c.777A>C (p.Ala259=)
|
rs777145505
|
0.00001
|
NM_001399.5(EDA):c.834T>G (p.Thr278=)
|
rs749576852
|
0.00001
|
NM_001399.5(EDA):c.864C>T (p.Pro288=)
|
rs1569406470
|
0.00001
|
NM_001399.5(EDA):c.866G>A (p.Arg289His)
|
rs876657641
|
0.00001
|
NM_001399.5(EDA):c.879G>A (p.Leu293=)
|
rs746437230
|
0.00001
|
NM_001399.5(EDA):c.924+9G>C
|
rs761263650
|
0.00001
|
NM_001399.5(EDA):c.925-6A>G
|
rs765272179
|
0.00001
|
NM_001399.5(EDA):c.990G>A (p.Leu330=)
|
rs751769463
|
0.00001
|
NC_000023.10:g.(?_68836133)_(69255479_?)del
|
|
|
NC_000023.10:g.(?_68836153)_(68836568_?)del
|
|
|
NC_000023.10:g.(?_68890034)_(69177002_?)del
|
|
|
NC_000023.10:g.(?_68890034)_(69177002_?)dup
|
|
|
NC_000023.10:g.(?_69080668)_(69177002_?)del
|
|
|
NC_000023.10:g.(?_69080668)_(69177002_?)dup
|
|
|
NC_000023.10:g.(?_69176857)_(69255459_?)del
|
|
|
NC_000023.10:g.(?_69235004)_(69247795_?)del
|
|
|
NC_000023.10:g.(?_69243048)_(69247906_?)del
|
|
|
NC_000023.10:g.(?_69243048)_(69255479_?)del
|
|
|
NC_000023.10:g.(?_69255198)_(69255469_?)del
|
|
|
NC_000023.11:g.(?_69616289)_(69616724_?)del
|
|
|
NC_000023.11:g.(?_69616289)_(69670280_?)del
|
|
|
NC_000023.11:g.(?_69957007)_(69957152_?)del
|
|
|
NC_000023.11:g.(?_69957007)_(69957152_?)dup
|
|
|
NC_000023.11:g.(?_69957017)_(69957142_?)del
|
|
|
NC_000023.11:g.(?_70035338)_(70035629_?)del
|
|
|
NM_001399.5(EDA):c.-36_47del (p.Met1fs)
|
rs1931920527
|
|
NM_001399.5(EDA):c.1000C>T (p.Arg334Cys)
|
|
|
NM_001399.5(EDA):c.1008C>T (p.Ile336=)
|
rs746241095
|
|
NM_001399.5(EDA):c.1009G>T (p.Glu337Ter)
|
rs191378148
|
|
NM_001399.5(EDA):c.1010A>T (p.Glu337Val)
|
|
|
NM_001399.5(EDA):c.1012A>G (p.Thr338Ala)
|
|
|
NM_001399.5(EDA):c.1022C>T (p.Thr341Ile)
|
|
|
NM_001399.5(EDA):c.1026C>T (p.Asn342=)
|
rs2147519135
|
|
NM_001399.5(EDA):c.1029C>G (p.Tyr343Ter)
|
|
|
NM_001399.5(EDA):c.1029del (p.Asn342_Tyr343insTer)
|
|
|
NM_001399.5(EDA):c.1035T>C (p.Thr345=)
|
rs2147519148
|
|
NM_001399.5(EDA):c.1036T>C (p.Cys346Arg)
|
|
|
NM_001399.5(EDA):c.1041T>C (p.Tyr347=)
|
rs2020253809
|
|
NM_001399.5(EDA):c.1044C>T (p.Thr348=)
|
|
|
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr)
|
rs132630317
|
|
NM_001399.5(EDA):c.1045G>T (p.Ala349Ser)
|
rs132630317
|
|
NM_001399.5(EDA):c.1048G>T (p.Gly350Cys)
|
rs2147519167
|
|
NM_001399.5(EDA):c.1066G>A (p.Ala356Thr)
|
|
|
NM_001399.5(EDA):c.1067C>A (p.Ala356Asp)
|
rs876657639
|
|
NM_001399.5(EDA):c.1067C>T (p.Ala356Val)
|
rs876657639
|
|
NM_001399.5(EDA):c.1068C>T (p.Ala356=)
|
|
|
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp)
|
rs886039347
|
|
NM_001399.5(EDA):c.106G>A (p.Glu36Lys)
|
|
|
NM_001399.5(EDA):c.1074G>A (p.Gln358=)
|
rs2147519229
|
|
NM_001399.5(EDA):c.1075A>G (p.Lys359Glu)
|
|
|
NM_001399.5(EDA):c.1091T>C (p.Met364Thr)
|
|
|
NM_001399.5(EDA):c.1093G>A (p.Val365Met)
|
rs2147519270
|
|
NM_001399.5(EDA):c.1100delinsTCAAGATGG (p.Ala367fs)
|
rs1556110934
|
|
NM_001399.5(EDA):c.1104C>T (p.Asp368=)
|
rs150292516
|
|
NM_001399.5(EDA):c.1106T>A (p.Ile369Asn)
|
rs1569407331
|
|
NM_001399.5(EDA):c.1111A>T (p.Ile371Phe)
|
|
|
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)
|
rs2020255486
|
|
NM_001399.5(EDA):c.1119G>A (p.Met373Ile)
|
|
|
NM_001399.5(EDA):c.1119G>T (p.Met373Ile)
|
|
|
NM_001399.5(EDA):c.111G>C (p.Gly37=)
|
rs1301485954
|
|
NM_001399.5(EDA):c.1133C>T (p.Thr378Met)
|
rs1569407346
|
|
NM_001399.5(EDA):c.1143G>T (p.Gly381=)
|
|
|
NM_001399.5(EDA):c.1144G>A (p.Ala382Thr)
|
rs749830948
|
|
NM_001399.5(EDA):c.1144G>T (p.Ala382Ser)
|
|
|
NM_001399.5(EDA):c.1144del (p.Ala382fs)
|
|
|
NM_001399.5(EDA):c.1152G>T (p.Arg384Ser)
|
rs2020256386
|
|
NM_001399.5(EDA):c.1167T>G (p.Pro389=)
|
|
|
NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr)
|
rs2020256932
|
|
NM_001399.5(EDA):c.11C>G (p.Pro4Arg)
|
|
|
NM_001399.5(EDA):c.121C>T (p.Leu41=)
|
rs2147197470
|
|
NM_001399.5(EDA):c.134G>A (p.Gly45Asp)
|
rs1931938364
|
|
NM_001399.5(EDA):c.148T>G (p.Ser50Ala)
|
rs1931939988
|
|
NM_001399.5(EDA):c.149C>G (p.Ser50Trp)
|
|
|
NM_001399.5(EDA):c.163C>G (p.Leu55Val)
|
rs1602221926
|
|
NM_001399.5(EDA):c.166C>T (p.Leu56=)
|
|
|
NM_001399.5(EDA):c.167T>A (p.Leu56Gln)
|
rs1569272203
|
|
NM_001399.5(EDA):c.170C>G (p.Thr57Arg)
|
|
|
NM_001399.5(EDA):c.181T>A (p.Tyr61Asn)
|
rs132630308
|
|
NM_001399.5(EDA):c.181T>C (p.Tyr61His)
|
rs132630308
|
|
NM_001399.5(EDA):c.183C>G (p.Tyr61Ter)
|
rs132630318
|
|
NM_001399.5(EDA):c.183C>T (p.Tyr61=)
|
rs132630318
|
|
NM_001399.5(EDA):c.195C>A (p.Arg65=)
|
rs2147197722
|
|
NM_001399.5(EDA):c.197C>T (p.Ser66Leu)
|
|
|
NM_001399.5(EDA):c.198G>A (p.Ser66=)
|
|
|
NM_001399.5(EDA):c.198G>C (p.Ser66=)
|
|
|
NM_001399.5(EDA):c.1A>G (p.Met1Val)
|
rs2147196982
|
|
NM_001399.5(EDA):c.205C>T (p.Arg69Trp)
|
|
|
NM_001399.5(EDA):c.213del (p.Glu71fs)
|
rs2147197808
|
|
NM_001399.5(EDA):c.215G>A (p.Arg72His)
|
|
|
NM_001399.5(EDA):c.216_220del (p.Gly73fs)
|
rs2147197831
|
|
NM_001399.5(EDA):c.218G>C (p.Gly73Ala)
|
|
|
NM_001399.5(EDA):c.223G>T (p.Glu75Ter)
|
rs2147197866
|
|
NM_001399.5(EDA):c.225G>A (p.Glu75=)
|
|
|
NM_001399.5(EDA):c.228_234delinsAA (p.Leu78fs)
|
rs1555972067
|
|
NM_001399.5(EDA):c.234T>A (p.Leu78=)
|
rs1569272277
|
|
NM_001399.5(EDA):c.239dup (p.Ser81fs)
|
rs1555972071
|
|
NM_001399.5(EDA):c.243G>C (p.Ser81=)
|
|
|
NM_001399.5(EDA):c.243_251del (p.Pro84_Thr86del)
|
|
|
NM_001399.5(EDA):c.249C>T (p.Thr83=)
|
rs769141538
|
|
NM_001399.5(EDA):c.250_258del (p.Pro84_Thr86del)
|
rs763527972
|
|
NM_001399.5(EDA):c.252del (p.Gly85fs)
|
rs1569272328
|
|
NM_001399.5(EDA):c.258C>T (p.Thr86=)
|
rs1931955604
|
|
NM_001399.5(EDA):c.271dup (p.Ser91fs)
|
rs1931956776
|
|
NM_001399.5(EDA):c.272dup (p.Ser91fs)
|
rs397516656
|
|
NM_001399.5(EDA):c.273C>T (p.Ser91=)
|
|
|
NM_001399.5(EDA):c.288C>G (p.Leu96=)
|
|
|
NM_001399.5(EDA):c.28G>C (p.Glu10Gln)
|
|
|
NM_001399.5(EDA):c.28G>T (p.Glu10Ter)
|
|
|
NM_001399.5(EDA):c.2T>G (p.Met1Arg)
|
|
|
NM_001399.5(EDA):c.318T>C (p.Leu106=)
|
rs1602222372
|
|
NM_001399.5(EDA):c.321G>A (p.Gly107=)
|
rs2147198265
|
|
NM_001399.5(EDA):c.321G>C (p.Gly107=)
|
|
|
NM_001399.5(EDA):c.326dup (p.Ser110fs)
|
rs2147198269
|
|
NM_001399.5(EDA):c.327G>C (p.Pro109=)
|
|
|
NM_001399.5(EDA):c.345A>T (p.Pro115=)
|
rs775366784
|
|
NM_001399.5(EDA):c.354G>A (p.Pro118=)
|
|
|
NM_001399.5(EDA):c.354G>C (p.Pro118=)
|
rs762842929
|
|
NM_001399.5(EDA):c.366A>C (p.Ala122=)
|
rs1931965002
|
|
NM_001399.5(EDA):c.36G>A (p.Leu12=)
|
|
|
NM_001399.5(EDA):c.375T>C (p.Ser125=)
|
|
|
NM_001399.5(EDA):c.387C>G (p.Asp129Glu)
|
|
|
NM_001399.5(EDA):c.396+4dup
|
rs1569272528
|
|
NM_001399.5(EDA):c.396+5G>C
|
rs1931970978
|
|
NM_001399.5(EDA):c.396+9C>T
|
rs1931971305
|
|
NM_001399.5(EDA):c.397-12T>C
|
|
|
NM_001399.5(EDA):c.397-16_397-11del
|
|
|
NM_001399.5(EDA):c.397-19G>A
|
|
|
NM_001399.5(EDA):c.397-1G>C
|
|
|
NM_001399.5(EDA):c.397-2A>T
|
|
|
NM_001399.5(EDA):c.397-6T>C
|
|
|
NM_001399.5(EDA):c.39T>C (p.Pro13=)
|
|
|
NM_001399.5(EDA):c.406T>C (p.Leu136=)
|
|
|
NM_001399.5(EDA):c.410A>T (p.Asn137Ile)
|
rs2147419026
|
|
NM_001399.5(EDA):c.413_416del (p.Phe138fs)
|
rs2019017595
|
|
NM_001399.5(EDA):c.414C>T (p.Phe138=)
|
|
|
NM_001399.5(EDA):c.42A>G (p.Ala14=)
|
|
|
NM_001399.5(EDA):c.440C>G (p.Ser147Cys)
|
rs2147419080
|
|
NM_001399.5(EDA):c.441dup (p.Glu148Ter)
|
rs2147419086
|
|
NM_001399.5(EDA):c.456G>A (p.Arg152=)
|
rs2147419121
|
|
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)
|
rs397516662
|
|
NM_001399.5(EDA):c.459T>C (p.Arg153=)
|
rs2147419146
|
|
NM_001399.5(EDA):c.459T>G (p.Arg153=)
|
|
|
NM_001399.5(EDA):c.459dup (p.Val154fs)
|
rs1569384962
|
|
NM_001399.5(EDA):c.462T>C (p.Val154=)
|
|
|
NM_001399.5(EDA):c.466C>T (p.Arg156Cys)
|
rs132630313
|
|
NM_001399.5(EDA):c.466_467delinsTC (p.Arg156Ser)
|
|
|
NM_001399.5(EDA):c.471T>C (p.Asn157=)
|
|
|
NM_001399.5(EDA):c.473A>G (p.Lys158Arg)
|
rs982209417
|
|
NM_001399.5(EDA):c.476G>C (p.Arg159Thr)
|
rs1556039084
|
|
NM_001399.5(EDA):c.479G>A (p.Ser160Asn)
|
rs1556039088
|
|
NM_001399.5(EDA):c.486_487insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAAAAGC (p.Asn163delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
|
|
NM_001399.5(EDA):c.48G>A (p.Ala16=)
|
rs2147197188
|
|
NM_001399.5(EDA):c.494G>C (p.Gly165Ala)
|
rs1057521131
|
|
NM_001399.5(EDA):c.497C>T (p.Ala166Val)
|
|
|
NM_001399.5(EDA):c.497del (p.Ala166fs)
|
rs2147419276
|
|
NM_001399.5(EDA):c.502+10_502+14del
|
|
|
NM_001399.5(EDA):c.502+16T>C
|
|
|
NM_001399.5(EDA):c.503-13A>G
|
|
|
NM_001399.5(EDA):c.503-14T>C
|
|
|
NM_001399.5(EDA):c.503-2del
|
rs1602614385
|
|
NM_001399.5(EDA):c.503-4A>C
|
rs1602614380
|
|
NM_001399.5(EDA):c.521_522delinsT (p.Lys174fs)
|
rs1556092261
|
|
NM_001399.5(EDA):c.526+17A>G
|
|
|
NM_001399.5(EDA):c.526+1G>A
|
rs2147503858
|
|
NM_001399.5(EDA):c.526+20A>C
|
|
|
NM_001399.5(EDA):c.526+5G>A
|
rs397516664
|
|
NM_001399.5(EDA):c.527-18del
|
|
|
NM_001399.5(EDA):c.527-19A>G
|
|
|
NM_001399.5(EDA):c.527-2A>T
|
rs1569404780
|
|
NM_001399.5(EDA):c.527-7T>C
|
rs2147509468
|
|
NM_001399.5(EDA):c.527-9A>G
|
|
|
NM_001399.5(EDA):c.528A>G (p.Gly176=)
|
rs2147509479
|
|
NM_001399.5(EDA):c.532A>G (p.Lys178Glu)
|
|
|
NM_001399.5(EDA):c.540A>G (p.Gly180=)
|
|
|
NM_001399.5(EDA):c.543_569del (p.Asn185_Pro193del)
|
|
|
NM_001399.5(EDA):c.546T>G (p.Pro182=)
|
rs758937877
|
|
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del)
|
rs397516665
|
|
NM_001399.5(EDA):c.552C>A (p.Pro184=)
|
|
|
NM_001399.5(EDA):c.552_578del (p.Asn185_Pro193del)
|
rs2147509524
|
|
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del)
|
rs397516666
|
|
NM_001399.5(EDA):c.560dup (p.Pro188fs)
|
rs1556098384
|
|
NM_001399.5(EDA):c.564A>G (p.Pro188=)
|
|
|
NM_001399.5(EDA):c.565G>A (p.Gly189Arg)
|
|
|
NM_001399.5(EDA):c.570C>T (p.Pro190=)
|
rs1328353332
|
|
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1])
|
rs397516668
|
|
NM_001399.5(EDA):c.572del (p.Pro191fs)
|
|
|
NM_001399.5(EDA):c.576_592del (p.Pro193fs)
|
rs2147509622
|
|
NM_001399.5(EDA):c.582A>T (p.Pro194=)
|
rs2147509679
|
|
NM_001399.5(EDA):c.585_697del (p.Pro196fs)
|
rs2147509660
|
|
NM_001399.5(EDA):c.588C>A (p.Pro196=)
|
rs2020137851
|
|
NM_001399.5(EDA):c.589del (p.Gln197fs)
|
rs2020137674
|
|
NM_001399.5(EDA):c.58C>T (p.Arg20Ter)
|
|
|
NM_001399.5(EDA):c.595_613del (p.Pro199fs)
|
rs2147509712
|
|
NM_001399.5(EDA):c.597C>T (p.Pro199=)
|
|
|
NM_001399.5(EDA):c.599del (p.Pro200fs)
|
rs1556098570
|
|
NM_001399.5(EDA):c.599dup (p.Gly201fs)
|
rs1556098570
|
|
NM_001399.5(EDA):c.605_631del (p.Ile202_Gly210del)
|
rs1602618255
|
|
NM_001399.5(EDA):c.607C>G (p.Pro203Ala)
|
|
|
NM_001399.5(EDA):c.607C>T (p.Pro203Ser)
|
rs397516671
|
|
NM_001399.5(EDA):c.608C>T (p.Pro203Leu)
|
rs2020138975
|
|
NM_001399.5(EDA):c.610G>A (p.Gly204Arg)
|
rs2020139065
|
|
NM_001399.5(EDA):c.611G>A (p.Gly204Glu)
|
|
|
NM_001399.5(EDA):c.612G>A (p.Gly204=)
|
|
|
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1])
|
rs1064793104
|
|
NM_001399.5(EDA):c.613A>T (p.Ile205Phe)
|
rs1556098680
|
|
NM_001399.5(EDA):c.614_699del (p.Ile205fs)
|
rs2147509775
|
|
NM_001399.5(EDA):c.617C>T (p.Pro206Leu)
|
rs1057520742
|
|
NM_001399.5(EDA):c.619G>A (p.Gly207Arg)
|
rs2147509825
|
|
NM_001399.5(EDA):c.620G>A (p.Gly207Glu)
|
rs2020139491
|
|
NM_001399.5(EDA):c.625C>T (p.Pro209Ser)
|
|
|
NM_001399.5(EDA):c.626C>T (p.Pro209Leu)
|
rs132630315
|
|
NM_001399.5(EDA):c.628G>C (p.Gly210Arg)
|
rs1556098733
|
|
NM_001399.5(EDA):c.628G>T (p.Gly210Ter)
|
rs1556098733
|
|
NM_001399.5(EDA):c.632C>G (p.Thr211Arg)
|
rs2147509853
|
|
NM_001399.5(EDA):c.636T>A (p.Thr212=)
|
|
|
NM_001399.5(EDA):c.641T>A (p.Met214Lys)
|
rs1569404950
|
|
NM_001399.5(EDA):c.643G>T (p.Gly215Ter)
|
rs2147509886
|
|
NM_001399.5(EDA):c.644G>A (p.Gly215Glu)
|
|
|
NM_001399.5(EDA):c.646C>T (p.Pro216Ser)
|
rs1556098806
|
|
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del)
|
rs876657685
|
|
NM_001399.5(EDA):c.64_71dup (p.Cys25fs)
|
|
|
NM_001399.5(EDA):c.658C>G (p.Pro220Ala)
|
|
|
NM_001399.5(EDA):c.659C>T (p.Pro220Leu)
|
rs2147509932
|
|
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1])
|
rs876657686
|
|
NM_001399.5(EDA):c.660_668del (p.217PGP[2])
|
|
|
NM_001399.5(EDA):c.662G>A (p.Gly221Asp)
|
|
|
NM_001399.5(EDA):c.663_697del (p.Pro222fs)
|
rs397516670
|
|
NM_001399.5(EDA):c.66C>T (p.Ser22=)
|
rs2147197257
|
|
NM_001399.5(EDA):c.670G>C (p.Gly224Arg)
|
rs1602618398
|
|
NM_001399.5(EDA):c.672T>C (p.Gly224=)
|
|
|
NM_001399.5(EDA):c.673_706+2del
|
rs2020140911
|
|
NM_001399.5(EDA):c.676C>T (p.Gln226Ter)
|
rs727503007
|
|
NM_001399.5(EDA):c.67C>T (p.Gln23Ter)
|
rs132630310
|
|
NM_001399.5(EDA):c.681_697del (p.Pro228fs)
|
rs1556098978
|
|
NM_001399.5(EDA):c.684C>T (p.Pro228=)
|
rs1255651906
|
|
NM_001399.5(EDA):c.706+10_706+11del
|
rs1347482754
|
|
NM_001399.5(EDA):c.706+13G>C
|
|
|
NM_001399.5(EDA):c.706+14T>A
|
|
|
NM_001399.5(EDA):c.706+14T>C
|
|
|
NM_001399.5(EDA):c.706+1G>A
|
rs886039344
|
|
NM_001399.5(EDA):c.706+5G>T
|
rs780966428
|
|
NM_001399.5(EDA):c.706+8C>A
|
|
|
NM_001399.5(EDA):c.707-13T>G
|
rs2147511678
|
|
NM_001399.5(EDA):c.707-15T>G
|
|
|
NM_001399.5(EDA):c.707-17C>A
|
|
|
NM_001399.5(EDA):c.707-18T>G
|
|
|
NM_001399.5(EDA):c.707-7T>C
|
|
|
NM_001399.5(EDA):c.714T>C (p.Ala238=)
|
rs2147511706
|
|
NM_001399.5(EDA):c.720del (p.Ala241fs)
|
|
|
NM_001399.5(EDA):c.730C>T (p.Arg244Ter)
|
rs397516672
|
|
NM_001399.5(EDA):c.732A>T (p.Arg244=)
|
rs2147511739
|
|
NM_001399.5(EDA):c.741+17T>C
|
|
|
NM_001399.5(EDA):c.741+18C>G
|
|
|
NM_001399.5(EDA):c.741+18C>T
|
|
|
NM_001399.5(EDA):c.741G>A (p.Gln247=)
|
rs886042183
|
|
NM_001399.5(EDA):c.741G>T (p.Gln247His)
|
rs886042183
|
|
NM_001399.5(EDA):c.742-20_742-17del
|
|
|
NM_001399.5(EDA):c.744A>G (p.Pro248=)
|
rs2147512873
|
|
NM_001399.5(EDA):c.753G>T (p.Val251=)
|
|
|
NM_001399.5(EDA):c.759A>T (p.Leu253=)
|
|
|
NM_001399.5(EDA):c.764G>A (p.Gly255Asp)
|
rs1064793105
|
|
NM_001399.5(EDA):c.766C>T (p.Gln256Ter)
|
rs727504417
|
|
NM_001399.5(EDA):c.771G>A (p.Gly257=)
|
rs2147512913
|
|
NM_001399.5(EDA):c.777A>G (p.Ala259=)
|
rs777145505
|
|
NM_001399.5(EDA):c.793+10A>G
|
|
|
NM_001399.5(EDA):c.793+19T>C
|
|
|
NM_001399.5(EDA):c.793+19del
|
|
|
NM_001399.5(EDA):c.793+20C>G
|
|
|
NM_001399.5(EDA):c.794-11C>T
|
rs2147516230
|
|
NM_001399.5(EDA):c.794-14_794-12del
|
|
|
NM_001399.5(EDA):c.794-1G>A
|
rs2147516240
|
|
NM_001399.5(EDA):c.794-7T>C
|
|
|
NM_001399.5(EDA):c.794A>C (p.Asp265Ala)
|
|
|
NM_001399.5(EDA):c.794A>G (p.Asp265Gly)
|
rs727504750
|
|
NM_001399.5(EDA):c.798T>C (p.Leu266=)
|
rs2147516257
|
|
NM_001399.5(EDA):c.801A>G (p.Ser267=)
|
rs2147516275
|
|
NM_001399.5(EDA):c.803G>T (p.Gly268Val)
|
|
|
NM_001399.5(EDA):c.805G>A (p.Gly269Arg)
|
|
|
NM_001399.5(EDA):c.810G>A (p.Val270=)
|
|
|
NM_001399.5(EDA):c.814A>G (p.Asn272Asp)
|
rs1556106742
|
|
NM_001399.5(EDA):c.822del (p.Trp274fs)
|
rs397516676
|
|
NM_001399.5(EDA):c.826C>G (p.Arg276Gly)
|
|
|
NM_001399.5(EDA):c.826C>T (p.Arg276Cys)
|
rs387907197
|
|
NM_001399.5(EDA):c.827G>C (p.Arg276Pro)
|
|
|
NM_001399.5(EDA):c.827G>T (p.Arg276Leu)
|
rs1057517731
|
|
NM_001399.5(EDA):c.831C>T (p.Ile277=)
|
|
|
NM_001399.5(EDA):c.836T>G (p.Met279Arg)
|
|
|
NM_001399.5(EDA):c.852T>C (p.Phe284=)
|
rs2147516387
|
|
NM_001399.5(EDA):c.853A>G (p.Lys285Glu)
|
rs1556106974
|
|
NM_001399.5(EDA):c.858A>G (p.Leu286=)
|
rs2147516404
|
|
NM_001399.5(EDA):c.865C>T (p.Arg289Cys)
|
rs879255551
|
|
NM_001399.5(EDA):c.866_867delinsAA (p.Arg289Gln)
|
rs2020226101
|
|
NM_001399.5(EDA):c.867C>A (p.Arg289=)
|
rs1471642587
|
|
NM_001399.5(EDA):c.867C>T (p.Arg289=)
|
|
|
NM_001399.5(EDA):c.871G>A (p.Gly291Arg)
|
rs397516677
|
|
NM_001399.5(EDA):c.871G>C (p.Gly291Arg)
|
|
|
NM_001399.5(EDA):c.872G>A (p.Gly291Glu)
|
rs886042021
|
|
NM_001399.5(EDA):c.872G>T (p.Gly291Val)
|
|
|
NM_001399.5(EDA):c.873G>A (p.Gly291=)
|
|
|
NM_001399.5(EDA):c.876_893del (p.Glu292_Val297del)
|
rs1602622972
|
|
NM_001399.5(EDA):c.881A>T (p.Glu294Val)
|
rs397516678
|
|
NM_001399.5(EDA):c.883del (p.Val295fs)
|
|
|
NM_001399.5(EDA):c.885A>G (p.Val295=)
|
|
|
NM_001399.5(EDA):c.885_890del (p.Leu296_Val297del)
|
rs2147516497
|
|
NM_001399.5(EDA):c.886C>T (p.Leu296=)
|
|
|
NM_001399.5(EDA):c.889_898del (p.Val297fs)
|
|
|
NM_001399.5(EDA):c.894C>T (p.Asp298=)
|
rs1602623024
|
|
NM_001399.5(EDA):c.895G>A (p.Gly299Ser)
|
rs397516679
|
|
NM_001399.5(EDA):c.895G>T (p.Gly299Cys)
|
|
|
NM_001399.5(EDA):c.896G>A (p.Gly299Asp)
|
rs2147516523
|
|
NM_001399.5(EDA):c.897C>T (p.Gly299=)
|
|
|
NM_001399.5(EDA):c.901T>G (p.Tyr301Asp)
|
rs2020226899
|
|
NM_001399.5(EDA):c.904T>C (p.Phe302Leu)
|
|
|
NM_001399.5(EDA):c.90C>A (p.Ala30=)
|
|
|
NM_001399.5(EDA):c.914G>A (p.Ser305Asn)
|
rs2020227357
|
|
NM_001399.5(EDA):c.916C>T (p.Gln306Ter)
|
rs2147516557
|
|
NM_001399.5(EDA):c.917A>C (p.Gln306Pro)
|
|
|
NM_001399.5(EDA):c.924+14T>G
|
|
|
NM_001399.5(EDA):c.924+15A>C
|
|
|
NM_001399.5(EDA):c.924+1G>A
|
rs2147516572
|
|
NM_001399.5(EDA):c.924+20T>G
|
|
|
NM_001399.5(EDA):c.924+4A>T
|
|
|
NM_001399.5(EDA):c.924+5G>A
|
rs2020227617
|
|
NM_001399.5(EDA):c.924+8C>A
|
rs370406516
|
|
NM_001399.5(EDA):c.924+8C>T
|
|
|
NM_001399.5(EDA):c.924+9G>A
|
|
|
NM_001399.5(EDA):c.925-11C>T
|
|
|
NM_001399.5(EDA):c.925-13G>A
|
|
|
NM_001399.5(EDA):c.925-17T>G
|
|
|
NM_001399.5(EDA):c.927A>G (p.Val309=)
|
|
|
NM_001399.5(EDA):c.928T>G (p.Tyr310Asp)
|
|
|
NM_001399.5(EDA):c.930C>T (p.Tyr310=)
|
|
|
NM_001399.5(EDA):c.935T>C (p.Ile312Thr)
|
rs1791938725
|
|
NM_001399.5(EDA):c.941T>C (p.Phe314Ser)
|
rs1556110180
|
|
NM_001399.5(EDA):c.948C>G (p.Asp316Glu)
|
|
|
NM_001399.5(EDA):c.950T>G (p.Phe317Cys)
|
rs2020251589
|
|
NM_001399.5(EDA):c.958T>C (p.Tyr320His)
|
|
|
NM_001399.5(EDA):c.958T>G (p.Tyr320Asp)
|
rs1416551006
|
|
NM_001399.5(EDA):c.959A>C (p.Tyr320Ser)
|
|
|
NM_001399.5(EDA):c.960T>C (p.Tyr320=)
|
|
|
NM_001399.5(EDA):c.970G>A (p.Val324Met)
|
rs1556110308
|
|
NM_001399.5(EDA):c.973G>T (p.Asp325Tyr)
|
rs2147519024
|
|
NM_001399.5(EDA):c.97C>A (p.Arg33=)
|
|
|
NM_001399.5(EDA):c.97C>T (p.Arg33Trp)
|
rs1168030930
|
|
NM_001399.5(EDA):c.986T>C (p.Phe329Ser)
|
rs1569407150
|
|
NM_001399.5(EDA):c.986T>G (p.Phe329Cys)
|
|
|
NM_001399.5(EDA):c.988C>T (p.Leu330=)
|
rs2147519044
|
|
NM_001399.5(EDA):c.991C>T (p.Gln331Ter)
|
rs727503011
|
|
NM_001399.5(EDA):c.993G>A (p.Gln331=)
|
|
|
NM_001399.5(EDA):c.995G>A (p.Cys332Tyr)
|
rs1602624745
|
|
NM_001399.5(EDA):c.998C>G (p.Thr333Arg)
|
rs1556110379
|
|