|
NM_014336.5(AIPL1):c.651A>G (p.Pro217=)
|
rs2292546
|
0.73525
|
|
NM_014336.5(AIPL1):c.300A>G (p.Leu100=)
|
rs8075035
|
0.60839
|
|
NM_014336.5(AIPL1):c.277-10A>C
|
rs12453262
|
0.52383
|
|
NM_014336.5(AIPL1):c.268G>C (p.Asp90His)
|
rs12449580
|
0.19586
|
|
NM_014336.5(AIPL1):c.784+18G>A
|
rs7222126
|
0.05323
|
|
NM_014336.5(AIPL1):c.111C>T (p.Phe37=)
|
rs11650007
|
0.02008
|
|
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile)
|
rs8069375
|
0.01781
|
|
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile)
|
rs62619924
|
0.01285
|
|
NM_014336.5(AIPL1):c.642+14G>A
|
rs188779461
|
0.00682
|
|
NM_014336.5(AIPL1):c.765T>C (p.Asp255=)
|
rs62637018
|
0.00643
|
|
NM_014336.5(AIPL1):c.277-14G>A
|
rs117749485
|
0.00585
|
|
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser)
|
rs115681466
|
0.00535
|
|
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)
|
rs61757484
|
0.00475
|
|
NM_014336.5(AIPL1):c.97-9G>A
|
rs140124986
|
0.00457
|
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
|
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)
|
rs150656720
|
0.00357
|
|
NM_014336.5(AIPL1):c.516T>C (p.His172=)
|
rs62637017
|
0.00220
|
|
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr)
|
rs143092701
|
0.00200
|
|
NM_014336.5(AIPL1):c.228T>C (p.Leu76=)
|
rs141947237
|
0.00199
|
|
NM_014336.5(AIPL1):c.318G>A (p.Gln106=)
|
rs142208422
|
0.00185
|
|
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr)
|
rs144822294
|
0.00138
|
|
NM_014336.5(AIPL1):c.853G>A (p.Ala285Thr)
|
rs145430356
|
0.00119
|
|
NM_014336.5(AIPL1):c.854C>A (p.Ala285Glu)
|
rs148543951
|
0.00119
|
|
NM_014336.5(AIPL1):c.756C>T (p.His252=)
|
rs202182152
|
0.00107
|
|
NM_014336.5(AIPL1):c.234C>T (p.Ser78=)
|
rs62635774
|
0.00102
|
|
NM_014336.5(AIPL1):c.780C>T (p.His260=)
|
rs145304845
|
0.00072
|
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
|
NM_014336.5(AIPL1):c.323C>T (p.Ala108Val)
|
rs149124329
|
0.00051
|
|
NM_014336.5(AIPL1):c.97-15C>T
|
rs190887679
|
0.00051
|
|
NM_014336.5(AIPL1):c.627G>A (p.Arg209=)
|
rs142319505
|
0.00045
|
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
|
NM_014336.5(AIPL1):c.383C>T (p.Ala128Val)
|
rs145466901
|
0.00023
|
|
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)
|
rs138585919
|
0.00021
|
|
NM_014336.5(AIPL1):c.117C>A (p.Thr39=)
|
rs139244717
|
0.00018
|
|
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser)
|
rs139079107
|
0.00017
|
|
NM_014336.5(AIPL1):c.915G>C (p.Leu305=)
|
rs369483430
|
0.00014
|
|
NM_014336.5(AIPL1):c.276+17C>T
|
rs755111451
|
0.00011
|
|
NM_014336.5(AIPL1):c.1047G>A (p.Glu349=)
|
rs777042856
|
0.00009
|
|
NM_014336.5(AIPL1):c.277-2A>G
|
rs140808549
|
0.00009
|
|
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys)
|
rs761622978
|
0.00008
|
|
NM_014336.5(AIPL1):c.403G>A (p.Glu135Lys)
|
rs187653323
|
0.00008
|
|
NM_014336.5(AIPL1):c.304C>T (p.Arg102Trp)
|
rs151204387
|
0.00006
|
|
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln)
|
rs181630986
|
0.00006
|
|
NM_014336.5(AIPL1):c.360G>A (p.Thr120=)
|
rs372906107
|
0.00006
|
|
NM_014336.5(AIPL1):c.363C>T (p.Cys121=)
|
rs765121760
|
0.00006
|
|
NM_014336.5(AIPL1):c.562C>T (p.Leu188Phe)
|
rs146153236
|
0.00006
|
|
NM_014336.5(AIPL1):c.658G>A (p.Val220Met)
|
rs751994982
|
0.00006
|
|
NM_014336.5(AIPL1):c.784+4C>T
|
rs375600133
|
0.00006
|
|
NM_014336.5(AIPL1):c.97-14G>A
|
rs770614172
|
0.00006
|
|
NM_014336.5(AIPL1):c.1054_1065dup (p.Ala352_Pro355dup)
|
rs776145713
|
0.00005
|
|
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val)
|
rs772911646
|
0.00005
|
|
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser)
|
rs142326926
|
0.00005
|
|
NM_014336.5(AIPL1):c.900G>C (p.Ala300=)
|
rs373590751
|
0.00005
|
|
NM_014336.5(AIPL1):c.1112C>G (p.Ala371Gly)
|
rs745586461
|
0.00004
|
|
NM_014336.5(AIPL1):c.281C>T (p.Thr94Met)
|
rs773203055
|
0.00004
|
|
NM_014336.5(AIPL1):c.538G>A (p.Val180Ile)
|
rs761059176
|
0.00004
|
|
NM_014336.5(AIPL1):c.62C>T (p.Thr21Met)
|
rs376242937
|
0.00004
|
|
NM_014336.5(AIPL1):c.796G>T (p.Ala266Ser)
|
rs200939019
|
0.00004
|
|
NM_014336.5(AIPL1):c.96+18G>A
|
rs756817688
|
0.00004
|
|
NM_014336.5(AIPL1):c.9C>T (p.Ala3=)
|
rs144074523
|
0.00004
|
|
NM_014336.5(AIPL1):c.1054G>A (p.Ala352Thr)
|
rs751700711
|
0.00003
|
|
NM_014336.5(AIPL1):c.112C>T (p.Arg38Cys)
|
rs200899521
|
0.00003
|
|
NM_014336.5(AIPL1):c.158G>A (p.Arg53Gln)
|
rs756283764
|
0.00003
|
|
NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg)
|
rs776024427
|
0.00003
|
|
NM_014336.5(AIPL1):c.382G>A (p.Ala128Thr)
|
rs751216669
|
0.00003
|
|
NM_014336.5(AIPL1):c.466-7G>A
|
rs756948838
|
0.00003
|
|
NM_014336.5(AIPL1):c.51G>A (p.Leu17=)
|
rs765416489
|
0.00003
|
|
NM_014336.5(AIPL1):c.785-11G>A
|
rs199772097
|
0.00003
|
|
NM_014336.5(AIPL1):c.113G>A (p.Arg38His)
|
rs759934433
|
0.00002
|
|
NM_014336.5(AIPL1):c.157C>T (p.Arg53Trp)
|
rs62637008
|
0.00002
|
|
NM_014336.5(AIPL1):c.240G>T (p.Arg80=)
|
rs917542921
|
0.00002
|
|
NM_014336.5(AIPL1):c.351C>T (p.His117=)
|
rs370312709
|
0.00002
|
|
NM_014336.5(AIPL1):c.384C>T (p.Ala128=)
|
rs758056082
|
0.00002
|
|
NM_014336.5(AIPL1):c.392C>T (p.Thr131Met)
|
rs537256728
|
0.00002
|
|
NM_014336.5(AIPL1):c.414C>T (p.Asp138=)
|
rs565896898
|
0.00002
|
|
NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter)
|
rs200125117
|
0.00002
|
|
NM_014336.5(AIPL1):c.642G>A (p.Lys214=)
|
rs747890893
|
0.00002
|
|
NM_014336.5(AIPL1):c.673C>T (p.Leu225=)
|
rs763372162
|
0.00002
|
|
NM_014336.5(AIPL1):c.813C>T (p.Ala271=)
|
rs776640481
|
0.00002
|
|
NM_014336.5(AIPL1):c.938C>T (p.Ala313Val)
|
rs139900367
|
0.00002
|
|
NM_014336.5(AIPL1):c.94C>T (p.Arg32Ter)
|
rs139305531
|
0.00002
|
|
NM_014336.5(AIPL1):c.1028C>T (p.Pro343Leu)
|
rs778794784
|
0.00001
|
|
NM_014336.5(AIPL1):c.1052C>T (p.Pro351Leu)
|
rs972017329
|
0.00001
|
|
NM_014336.5(AIPL1):c.1058A>G (p.Glu353Gly)
|
rs1452332999
|
0.00001
|
|
NM_014336.5(AIPL1):c.1061C>T (p.Pro354Leu)
|
rs766639726
|
0.00001
|
|
NM_014336.5(AIPL1):c.1123C>T (p.Pro375Ser)
|
rs1567634365
|
0.00001
|
|
NM_014336.5(AIPL1):c.131A>T (p.Glu44Val)
|
rs150831974
|
0.00001
|
|
NM_014336.5(AIPL1):c.141A>T (p.Thr47=)
|
rs780023377
|
0.00001
|
|
NM_014336.5(AIPL1):c.189C>T (p.Ile63=)
|
rs764653700
|
0.00001
|
|
NM_014336.5(AIPL1):c.203A>G (p.Lys68Arg)
|
rs1912903029
|
0.00001
|
|
NM_014336.5(AIPL1):c.208G>A (p.Glu70Lys)
|
rs746661125
|
0.00001
|
|
NM_014336.5(AIPL1):c.221T>C (p.Ile74Thr)
|
rs201336952
|
0.00001
|
|
NM_014336.5(AIPL1):c.227T>C (p.Leu76Pro)
|
rs1375384582
|
0.00001
|
|
NM_014336.5(AIPL1):c.239G>A (p.Arg80Gln)
|
rs781282752
|
0.00001
|
|
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg)
|
rs1264794214
|
0.00001
|
|
NM_014336.5(AIPL1):c.276+18G>A
|
rs369895657
|
0.00001
|
|
NM_014336.5(AIPL1):c.276+1G>A
|
rs150097891
|
0.00001
|
|
NM_014336.5(AIPL1):c.298C>G (p.Leu100Val)
|
rs1223856637
|
0.00001
|
|
NM_014336.5(AIPL1):c.333G>A (p.Lys111=)
|
rs762780829
|
0.00001
|
|
NM_014336.5(AIPL1):c.33G>C (p.Gly11=)
|
rs369223841
|
0.00001
|
|
NM_014336.5(AIPL1):c.352G>A (p.Val118Met)
|
rs1194123629
|
0.00001
|
|
NM_014336.5(AIPL1):c.358A>G (p.Thr120Ala)
|
rs200049623
|
0.00001
|
|
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met)
|
rs144579083
|
0.00001
|
|
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
|
rs201883601
|
0.00001
|
|
NM_014336.5(AIPL1):c.402C>T (p.Tyr134=)
|
rs202187603
|
0.00001
|
|
NM_014336.5(AIPL1):c.453C>T (p.Ile151=)
|
rs727503799
|
0.00001
|
|
NM_014336.5(AIPL1):c.454G>A (p.Glu152Lys)
|
rs150886208
|
0.00001
|
|
NM_014336.5(AIPL1):c.465+1G>A
|
rs887335730
|
0.00001
|
|
NM_014336.5(AIPL1):c.46A>G (p.Ile16Val)
|
rs767405804
|
0.00001
|
|
NM_014336.5(AIPL1):c.476C>T (p.Pro159Leu)
|
rs141575827
|
0.00001
|
|
NM_014336.5(AIPL1):c.515A>G (p.His172Arg)
|
rs1285577966
|
0.00001
|
|
NM_014336.5(AIPL1):c.525G>A (p.Met175Ile)
|
rs933903266
|
0.00001
|
|
NM_014336.5(AIPL1):c.531G>A (p.Ala177=)
|
rs902464819
|
0.00001
|
|
NM_014336.5(AIPL1):c.543C>A (p.Leu181=)
|
rs776046035
|
0.00001
|
|
NM_014336.5(AIPL1):c.546C>A (p.His182Gln)
|
rs745326012
|
0.00001
|
|
NM_014336.5(AIPL1):c.559C>T (p.Arg187Trp)
|
rs372483880
|
0.00001
|
|
NM_014336.5(AIPL1):c.570G>T (p.Lys190Asn)
|
rs199497823
|
0.00001
|
|
NM_014336.5(AIPL1):c.577C>A (p.Arg193Ser)
|
rs765435117
|
0.00001
|
|
NM_014336.5(AIPL1):c.578G>A (p.Arg193His)
|
rs761923853
|
0.00001
|
|
NM_014336.5(AIPL1):c.615C>G (p.Ile205Met)
|
rs374997186
|
0.00001
|
|
NM_014336.5(AIPL1):c.631C>G (p.Leu211Val)
|
rs748859830
|
0.00001
|
|
NM_014336.5(AIPL1):c.643-5G>A
|
rs375847248
|
0.00001
|
|
NM_014336.5(AIPL1):c.643-9C>T
|
rs758284298
|
0.00001
|
|
NM_014336.5(AIPL1):c.645G>A (p.Glu215=)
|
rs1297434866
|
0.00001
|
|
NM_014336.5(AIPL1):c.660G>A (p.Val220=)
|
rs974075633
|
0.00001
|
|
NM_014336.5(AIPL1):c.66C>T (p.Gly22=)
|
rs1454085955
|
0.00001
|
|
NM_014336.5(AIPL1):c.772C>G (p.Arg258Gly)
|
rs540875983
|
0.00001
|
|
NM_014336.5(AIPL1):c.773G>A (p.Arg258Gln)
|
rs751881283
|
0.00001
|
|
NM_014336.5(AIPL1):c.784+6C>T
|
rs761471244
|
0.00001
|
|
NM_014336.5(AIPL1):c.810T>C (p.Arg270=)
|
rs751671266
|
0.00001
|
|
NM_014336.5(AIPL1):c.819T>C (p.Ala273=)
|
rs747219996
|
0.00001
|
|
NM_014336.5(AIPL1):c.828G>C (p.Glu276Asp)
|
rs772357501
|
0.00001
|
|
NM_014336.5(AIPL1):c.939G>A (p.Ala313=)
|
rs200401166
|
0.00001
|
|
NM_014336.5(AIPL1):c.950A>G (p.Glu317Gly)
|
rs754534495
|
0.00001
|
|
NM_014336.5(AIPL1):c.96+13C>A
|
rs1213538509
|
0.00001
|
|
NM_014336.5(AIPL1):c.96+17C>A
|
rs552445309
|
0.00001
|
|
NM_014336.5(AIPL1):c.961C>T (p.Leu321=)
|
rs779791471
|
0.00001
|
|
NM_014336.5(AIPL1):c.97_104dup (p.Phe35delinsLeuTer)
|
rs776129172
|
0.00001
|
|
NC_000017.10:g.(?_6328760)_(6616672_?)del
|
|
|
|
NC_000017.10:g.(?_6328780)_(6428803_?)dup
|
|
|
|
NC_000017.10:g.(?_6331618)_(6338424_?)del
|
|
|
|
NC_000017.10:g.(?_6337219)_(6337438_?)del
|
|
|
|
NC_000017.10:g.(?_6338309)_(6338424_?)del
|
|
|
|
NC_000017.10:g.(?_6338309)_(6338424_?)dup
|
|
|
|
NM_001285403.4(AIPL1):c.466-24_466-21del
|
|
|
|
NM_014336.5(AIPL1):c.1002T>G (p.Pro334=)
|
|
|
|
NM_014336.5(AIPL1):c.1004C>T (p.Pro335Leu)
|
|
|
|
NM_014336.5(AIPL1):c.1005C>T (p.Pro335=)
|
|
|
|
NM_014336.5(AIPL1):c.1005del (p.Ala336fs)
|
rs1356057652
|
|
|
NM_014336.5(AIPL1):c.1006_1017del (p.Ala336_Pro339del)
|
|
|
|
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs)
|
rs62637016
|
|
|
NM_014336.5(AIPL1):c.1024C>T (p.Pro342Ser)
|
|
|
|
NM_014336.5(AIPL1):c.1029C>T (p.Pro343=)
|
rs1911839985
|
|
|
NM_014336.5(AIPL1):c.1030G>C (p.Ala344Pro)
|
rs757121467
|
|
|
NM_014336.5(AIPL1):c.1030G>T (p.Ala344Ser)
|
rs757121467
|
|
|
NM_014336.5(AIPL1):c.1036T>C (p.Ser346Pro)
|
rs753854367
|
|
|
NM_014336.5(AIPL1):c.1044A>C (p.Thr348=)
|
|
|
|
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
|
rs281865195
|
|
|
NM_014336.5(AIPL1):c.1074A>G (p.Pro358=)
|
rs2150673928
|
|
|
NM_014336.5(AIPL1):c.1080A>C (p.Ala360=)
|
|
|
|
NM_014336.5(AIPL1):c.1081G>A (p.Glu361Lys)
|
rs1278686032
|
|
|
NM_014336.5(AIPL1):c.1081G>C (p.Glu361Gln)
|
|
|
|
NM_014336.5(AIPL1):c.1084C>T (p.Leu362=)
|
|
|
|
NM_014336.5(AIPL1):c.1089C>G (p.Ser363=)
|
|
|
|
NM_014336.5(AIPL1):c.1090G>A (p.Ala364Thr)
|
|
|
|
NM_014336.5(AIPL1):c.1090G>T (p.Ala364Ser)
|
rs201875142
|
|
|
NM_014336.5(AIPL1):c.1095G>T (p.Gly365=)
|
rs1911829075
|
|
|
NM_014336.5(AIPL1):c.1096C>A (p.Pro366Thr)
|
rs1351212825
|
|
|
NM_014336.5(AIPL1):c.1099C>T (p.Pro367Ser)
|
rs1423538169
|
|
|
NM_014336.5(AIPL1):c.1100C>T (p.Pro367Leu)
|
rs1911827159
|
|
|
NM_014336.5(AIPL1):c.1111_1122dup (p.Ala371_Pro374dup)
|
rs760000705
|
|
|
NM_014336.5(AIPL1):c.1116A>C (p.Thr372=)
|
|
|
|
NM_014336.5(AIPL1):c.1123C>A (p.Pro375Thr)
|
|
|
|
NM_014336.5(AIPL1):c.1128G>A (p.Pro376=)
|
|
|
|
NM_014336.5(AIPL1):c.1129T>A (p.Ser377Thr)
|
|
|
|
NM_014336.5(AIPL1):c.1132C>T (p.Pro378Ser)
|
|
|
|
NM_014336.5(AIPL1):c.1135G>C (p.Gly379Arg)
|
|
|
|
NM_014336.5(AIPL1):c.1136G>C (p.Gly379Ala)
|
rs1911819341
|
|
|
NM_014336.5(AIPL1):c.1143G>A (p.Ser381=)
|
|
|
|
NM_014336.5(AIPL1):c.1143G>C (p.Ser381=)
|
|
|
|
NM_014336.5(AIPL1):c.1143G>T (p.Ser381=)
|
|
|
|
NM_014336.5(AIPL1):c.1145T>A (p.Leu382Gln)
|
rs751647463
|
|
|
NM_014336.5(AIPL1):c.1147C>T (p.Gln383Ter)
|
|
|
|
NM_014336.5(AIPL1):c.119T>A (p.Met40Lys)
|
rs1912918119
|
|
|
NM_014336.5(AIPL1):c.119T>C (p.Met40Thr)
|
|
|
|
NM_014336.5(AIPL1):c.129T>C (p.Asp43=)
|
|
|
|
NM_014336.5(AIPL1):c.136C>A (p.Arg46=)
|
|
|
|
NM_014336.5(AIPL1):c.136C>T (p.Arg46Trp)
|
|
|
|
NM_014336.5(AIPL1):c.137G>A (p.Arg46Gln)
|
rs755639765
|
|
|
NM_014336.5(AIPL1):c.137G>C (p.Arg46Pro)
|
rs755639765
|
|
|
NM_014336.5(AIPL1):c.140C>T (p.Thr47Ile)
|
rs150656720
|
|
|
NM_014336.5(AIPL1):c.142_145del (p.Val48fs)
|
|
|
|
NM_014336.5(AIPL1):c.144C>G (p.Val48=)
|
|
|
|
NM_014336.5(AIPL1):c.146T>C (p.Ile49Thr)
|
rs1172466966
|
|
|
NM_014336.5(AIPL1):c.147T>C (p.Ile49=)
|
|
|
|
NM_014336.5(AIPL1):c.150C>T (p.Asp50=)
|
|
|
|
NM_014336.5(AIPL1):c.152A>G (p.Asp51Gly)
|
|
|
|
NM_014336.5(AIPL1):c.172C>A (p.Pro58Thr)
|
rs1442681009
|
|
|
NM_014336.5(AIPL1):c.174C>G (p.Pro58=)
|
|
|
|
NM_014336.5(AIPL1):c.174C>T (p.Pro58=)
|
|
|
|
NM_014336.5(AIPL1):c.176T>C (p.Met59Thr)
|
rs545384558
|
|
|
NM_014336.5(AIPL1):c.178_179delinsAC (p.His60Thr)
|
|
|
|
NM_014336.5(AIPL1):c.197T>C (p.Met66Thr)
|
|
|
|
NM_014336.5(AIPL1):c.1A>G (p.Met1Val)
|
|
|
|
NM_014336.5(AIPL1):c.207C>A (p.Leu69=)
|
|
|
|
NM_014336.5(AIPL1):c.207C>G (p.Leu69=)
|
|
|
|
NM_014336.5(AIPL1):c.207C>T (p.Leu69=)
|
|
|
|
NM_014336.5(AIPL1):c.20T>G (p.Leu7Arg)
|
|
|
|
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)
|
rs775364986
|
|
|
NM_014336.5(AIPL1):c.212T>G (p.Val71Gly)
|
rs2150692149
|
|
|
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)
|
rs1468041544
|
|
|
NM_014336.5(AIPL1):c.219G>A (p.Glu73=)
|
|
|
|
NM_014336.5(AIPL1):c.21G>C (p.Leu7=)
|
|
|
|
NM_014336.5(AIPL1):c.238C>A (p.Arg80=)
|
rs748210823
|
|
|
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp)
|
rs748210823
|
|
|
NM_014336.5(AIPL1):c.23A>G (p.Asn8Ser)
|
|
|
|
NM_014336.5(AIPL1):c.241G>A (p.Val81Met)
|
|
|
|
NM_014336.5(AIPL1):c.246C>A (p.His82Gln)
|
|
|
|
NM_014336.5(AIPL1):c.246C>G (p.His82Gln)
|
rs758868216
|
|
|
NM_014336.5(AIPL1):c.254C>A (p.Ala85Asp)
|
rs1912891330
|
|
|
NM_014336.5(AIPL1):c.255C>G (p.Ala85=)
|
|
|
|
NM_014336.5(AIPL1):c.255C>T (p.Ala85=)
|
|
|
|
NM_014336.5(AIPL1):c.256G>A (p.Glu86Lys)
|
|
|
|
NM_014336.5(AIPL1):c.256G>C (p.Glu86Gln)
|
|
|
|
NM_014336.5(AIPL1):c.268G>A (p.Asp90Asn)
|
|
|
|
NM_014336.5(AIPL1):c.270C>T (p.Asp90=)
|
|
|
|
NM_014336.5(AIPL1):c.273C>G (p.Thr91=)
|
|
|
|
NM_014336.5(AIPL1):c.274A>G (p.Ile92Val)
|
rs2150691847
|
|
|
NM_014336.5(AIPL1):c.276+10C>A
|
|
|
|
NM_014336.5(AIPL1):c.276+12C>G
|
|
|
|
NM_014336.5(AIPL1):c.276+12del
|
rs1443673396
|
|
|
NM_014336.5(AIPL1):c.276+15C>A
|
|
|
|
NM_014336.5(AIPL1):c.276+15C>T
|
rs781192944
|
|
|
NM_014336.5(AIPL1):c.276+16G>A
|
rs1165122917
|
|
|
NM_014336.5(AIPL1):c.276+16_276+17delinsTT
|
rs2150691754
|
|
|
NM_014336.5(AIPL1):c.276+7dup
|
|
|
|
NM_014336.5(AIPL1):c.277-15C>T
|
|
|
|
NM_014336.5(AIPL1):c.277-16C>T
|
rs1035614640
|
|
|
NM_014336.5(AIPL1):c.277-19C>T
|
rs1912241785
|
|
|
NM_014336.5(AIPL1):c.277-6C>T
|
|
|
|
NM_014336.5(AIPL1):c.277-8C>T
|
|
|
|
NM_014336.5(AIPL1):c.282G>A (p.Thr94=)
|
|
|
|
NM_014336.5(AIPL1):c.285G>A (p.Gly95=)
|
|
|
|
NM_014336.5(AIPL1):c.286G>T (p.Val96Phe)
|
rs62619924
|
|
|
NM_014336.5(AIPL1):c.288C>G (p.Val96=)
|
|
|
|
NM_014336.5(AIPL1):c.289_292del (p.Tyr97fs)
|
|
|
|
NM_014336.5(AIPL1):c.294C>T (p.Pro98=)
|
|
|
|
NM_014336.5(AIPL1):c.294del (p.Ile99fs)
|
rs1597331616
|
|
|
NM_014336.5(AIPL1):c.297C>G (p.Ile99Met)
|
|
|
|
NM_014336.5(AIPL1):c.299T>G (p.Leu100Arg)
|
|
|
|
NM_014336.5(AIPL1):c.2T>C (p.Met1Thr)
|
|
|
|
NM_014336.5(AIPL1):c.304C>G (p.Arg102Gly)
|
rs151204387
|
|
|
NM_014336.5(AIPL1):c.306G>A (p.Arg102=)
|
|
|
|
NM_014336.5(AIPL1):c.314G>A (p.Arg105Lys)
|
rs1912230857
|
|
|
NM_014336.5(AIPL1):c.325C>T (p.Gln109Ter)
|
rs1912228419
|
|
|
NM_014336.5(AIPL1):c.327G>A (p.Gln109=)
|
rs751231254
|
|
|
NM_014336.5(AIPL1):c.330C>T (p.Gly110=)
|
|
|
|
NM_014336.5(AIPL1):c.34dup (p.Val12fs)
|
rs752193525
|
|
|
NM_014336.5(AIPL1):c.351C>G (p.His117Gln)
|
rs370312709
|
|
|
NM_014336.5(AIPL1):c.356A>G (p.His119Arg)
|
rs1912223301
|
|
|
NM_014336.5(AIPL1):c.357C>T (p.His119=)
|
|
|
|
NM_014336.5(AIPL1):c.360G>T (p.Thr120=)
|
|
|
|
NM_014336.5(AIPL1):c.364G>A (p.Gly122Arg)
|
|
|
|
NM_014336.5(AIPL1):c.381C>A (p.Phe127Leu)
|
|
|
|
NM_014336.5(AIPL1):c.381C>T (p.Phe127=)
|
|
|
|
NM_014336.5(AIPL1):c.393G>A (p.Thr131=)
|
rs1179777392
|
|
|
NM_014336.5(AIPL1):c.393G>C (p.Thr131=)
|
rs1179777392
|
|
|
NM_014336.5(AIPL1):c.406G>A (p.Asp136Asn)
|
|
|
|
NM_014336.5(AIPL1):c.412G>C (p.Asp138His)
|
rs1912211534
|
|
|
NM_014336.5(AIPL1):c.418C>T (p.Leu140=)
|
|
|
|
NM_014336.5(AIPL1):c.420G>A (p.Leu140=)
|
|
|
|
NM_014336.5(AIPL1):c.426G>A (p.Lys142=)
|
|
|
|
NM_014336.5(AIPL1):c.454G>T (p.Glu152Ter)
|
|
|
|
NM_014336.5(AIPL1):c.459G>A (p.Leu153=)
|
|
|
|
NM_014336.5(AIPL1):c.462G>A (p.Leu154=)
|
|
|
|
NM_014336.5(AIPL1):c.465+11G>C
|
|
|
|
NM_014336.5(AIPL1):c.465+13T>A
|
|
|
|
NM_014336.5(AIPL1):c.465+16G>T
|
|
|
|
NM_014336.5(AIPL1):c.465+19G>A
|
|
|
|
NM_014336.5(AIPL1):c.465+19G>T
|
|
|
|
NM_014336.5(AIPL1):c.465+20G>C
|
|
|
|
NM_014336.5(AIPL1):c.465+20G>T
|
|
|
|
NM_014336.5(AIPL1):c.465+4G>A
|
|
|
|
NM_014336.5(AIPL1):c.465+9G>C
|
|
|
|
NM_014336.5(AIPL1):c.465G>T (p.Gln155His)
|
rs758001091
|
|
|
NM_014336.5(AIPL1):c.466-10C>T
|
|
|
|
NM_014336.5(AIPL1):c.466-1G>C
|
rs1567637467
|
|
|
NM_014336.5(AIPL1):c.466-20_466-16del
|
|
|
|
NM_014336.5(AIPL1):c.476C>G (p.Pro159Arg)
|
|
|
|
NM_014336.5(AIPL1):c.477G>A (p.Pro159=)
|
|
|
|
NM_014336.5(AIPL1):c.487C>T (p.Gln163Ter)
|
rs62637009
|
|
|
NM_014336.5(AIPL1):c.488_498del (p.Gln163fs)
|
rs2150678060
|
|
|
NM_014336.5(AIPL1):c.48T>A (p.Ile16=)
|
|
|
|
NM_014336.5(AIPL1):c.49C>T (p.Leu17=)
|
|
|
|
NM_014336.5(AIPL1):c.507G>A (p.Leu169=)
|
|
|
|
NM_014336.5(AIPL1):c.510C>T (p.Ser170=)
|
|
|
|
NM_014336.5(AIPL1):c.512dup (p.Asn171fs)
|
rs1912058703
|
|
|
NM_014336.5(AIPL1):c.519G>C (p.Glu173Asp)
|
|
|
|
NM_014336.5(AIPL1):c.537C>T (p.Pro179=)
|
|
|
|
NM_014336.5(AIPL1):c.540C>A (p.Val180=)
|
|
|
|
NM_014336.5(AIPL1):c.546C>T (p.His182=)
|
|
|
|
NM_014336.5(AIPL1):c.547G>A (p.Gly183Arg)
|
rs374255033
|
|
|
NM_014336.5(AIPL1):c.547G>T (p.Gly183Ter)
|
rs374255033
|
|
|
NM_014336.5(AIPL1):c.54C>T (p.His18=)
|
|
|
|
NM_014336.5(AIPL1):c.55G>C (p.Gly19Arg)
|
|
|
|
NM_014336.5(AIPL1):c.561G>C (p.Arg187=)
|
|
|
|
NM_014336.5(AIPL1):c.567C>T (p.Phe189=)
|
|
|
|
NM_014336.5(AIPL1):c.572T>C (p.Leu191Pro)
|
|
|
|
NM_014336.5(AIPL1):c.577C>T (p.Arg193Cys)
|
rs765435117
|
|
|
NM_014336.5(AIPL1):c.582C>T (p.Tyr194=)
|
|
|
|
NM_014336.5(AIPL1):c.585G>A (p.Glu195=)
|
rs2150677666
|
|
|
NM_014336.5(AIPL1):c.586G>A (p.Glu196Lys)
|
rs2150677659
|
|
|
NM_014336.5(AIPL1):c.593C>T (p.Ser198Phe)
|
rs2150677613
|
|
|
NM_014336.5(AIPL1):c.597dup (p.Lys200fs)
|
rs1283508592
|
|
|
NM_014336.5(AIPL1):c.59G>A (p.Gly20Asp)
|
rs1036750099
|
|
|
NM_014336.5(AIPL1):c.59del (p.Gly20fs)
|
|
|
|
NM_014336.5(AIPL1):c.600G>A (p.Lys200=)
|
rs2150677591
|
|
|
NM_014336.5(AIPL1):c.621C>A (p.Cys207Ter)
|
|
|
|
NM_014336.5(AIPL1):c.633G>T (p.Leu211=)
|
|
|
|
NM_014336.5(AIPL1):c.636G>C (p.Gln212His)
|
|
|
|
NM_014336.5(AIPL1):c.642+11G>T
|
|
|
|
NM_014336.5(AIPL1):c.642+19G>A
|
|
|
|
NM_014336.5(AIPL1):c.642+20G>A
|
|
|
|
NM_014336.5(AIPL1):c.642+20G>C
|
|
|
|
NM_014336.5(AIPL1):c.642+3C>T
|
|
|
|
NM_014336.5(AIPL1):c.642+8G>A
|
|
|
|
NM_014336.5(AIPL1):c.642+8G>T
|
|
|
|
NM_014336.5(AIPL1):c.643-10C>A
|
|
|
|
NM_014336.5(AIPL1):c.643-16C>G
|
|
|
|
NM_014336.5(AIPL1):c.643-16C>T
|
|
|
|
NM_014336.5(AIPL1):c.643-18G>A
|
|
|
|
NM_014336.5(AIPL1):c.643-4G>A
|
|
|
|
NM_014336.5(AIPL1):c.643-7T>C
|
|
|
|
NM_014336.5(AIPL1):c.651A>T (p.Pro217=)
|
|
|
|
NM_014336.5(AIPL1):c.657G>A (p.Glu219=)
|
|
|
|
NM_014336.5(AIPL1):c.663G>A (p.Gln221=)
|
|
|
|
NM_014336.5(AIPL1):c.667C>T (p.Leu223=)
|
|
|
|
NM_014336.5(AIPL1):c.676_678del (p.Glu226del)
|
|
|
|
NM_014336.5(AIPL1):c.67G>A (p.Glu23Lys)
|
|
|
|
NM_014336.5(AIPL1):c.699C>A (p.Ile233=)
|
|
|
|
NM_014336.5(AIPL1):c.699C>T (p.Ile233=)
|
|
|
|
NM_014336.5(AIPL1):c.714G>C (p.Gln238His)
|
|
|
|
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg)
|
rs62637012
|
|
|
NM_014336.5(AIPL1):c.717C>T (p.Cys239=)
|
|
|
|
NM_014336.5(AIPL1):c.720G>A (p.Leu240=)
|
|
|
|
NM_014336.5(AIPL1):c.721C>T (p.Leu241=)
|
|
|
|
NM_014336.5(AIPL1):c.724AAG[1] (p.Lys243del)
|
rs765411357
|
|
|
NM_014336.5(AIPL1):c.725A>C (p.Lys242Thr)
|
rs1912002011
|
|
|
NM_014336.5(AIPL1):c.729G>A (p.Lys243=)
|
|
|
|
NM_014336.5(AIPL1):c.72C>T (p.Leu24=)
|
|
|
|
NM_014336.5(AIPL1):c.730G>C (p.Glu244Gln)
|
rs776498118
|
|
|
NM_014336.5(AIPL1):c.73C>A (p.Pro25Thr)
|
rs886053268
|
|
|
NM_014336.5(AIPL1):c.741T>C (p.Tyr247=)
|
|
|
|
NM_014336.5(AIPL1):c.746T>C (p.Val249Ala)
|
rs760491360
|
|
|
NM_014336.5(AIPL1):c.761G>A (p.Ser254Asn)
|
rs1911992920
|
|
|
NM_014336.5(AIPL1):c.763G>T (p.Asp255Tyr)
|
rs997988313
|
|
|
NM_014336.5(AIPL1):c.771C>T (p.Leu257=)
|
rs781449220
|
|
|
NM_014336.5(AIPL1):c.772C>A (p.Arg258=)
|
|
|
|
NM_014336.5(AIPL1):c.772C>T (p.Arg258Trp)
|
|
|
|
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro)
|
rs751881283
|
|
|
NM_014336.5(AIPL1):c.777C>T (p.His259=)
|
|
|
|
NM_014336.5(AIPL1):c.778dup (p.His260fs)
|
|
|
|
NM_014336.5(AIPL1):c.784+10G>C
|
|
|
|
NM_014336.5(AIPL1):c.784+17G>A
|
|
|
|
NM_014336.5(AIPL1):c.784+20C>A
|
|
|
|
NM_014336.5(AIPL1):c.784+20C>T
|
|
|
|
NM_014336.5(AIPL1):c.784+7G>A
|
|
|
|
NM_014336.5(AIPL1):c.784+7G>C
|
|
|
|
NM_014336.5(AIPL1):c.785-12T>C
|
|
|
|
NM_014336.5(AIPL1):c.785-14C>T
|
|
|
|
NM_014336.5(AIPL1):c.785-1_787del
|
rs1392534956
|
|
|
NM_014336.5(AIPL1):c.785-4A>G
|
|
|
|
NM_014336.5(AIPL1):c.78C>T (p.Asn26=)
|
rs1403472603
|
|
|
NM_014336.5(AIPL1):c.797C>T (p.Ala266Val)
|
|
|
|
NM_014336.5(AIPL1):c.804C>T (p.Tyr268=)
|
|
|
|
NM_014336.5(AIPL1):c.805G>T (p.Val269Leu)
|
|
|
|
NM_014336.5(AIPL1):c.807G>A (p.Val269=)
|
|
|
|
NM_014336.5(AIPL1):c.809G>A (p.Arg270His)
|
|
|
|
NM_014336.5(AIPL1):c.817G>T (p.Ala273Ser)
|
rs1911886614
|
|
|
NM_014336.5(AIPL1):c.822C>T (p.His274=)
|
|
|
|
NM_014336.5(AIPL1):c.826G>T (p.Glu276Ter)
|
rs2150674982
|
|
|
NM_014336.5(AIPL1):c.843C>G (p.Ala281=)
|
|
|
|
NM_014336.5(AIPL1):c.843C>T (p.Ala281=)
|
|
|
|
NM_014336.5(AIPL1):c.853_854delinsAA (p.Ala285Lys)
|
rs2150674893
|
|
|
NM_014336.5(AIPL1):c.855G>A (p.Ala285=)
|
|
|
|
NM_014336.5(AIPL1):c.867A>G (p.Lys289=)
|
|
|
|
NM_014336.5(AIPL1):c.867dup (p.Val290fs)
|
|
|
|
NM_014336.5(AIPL1):c.868G>C (p.Val290Leu)
|
|
|
|
NM_014336.5(AIPL1):c.882G>A (p.Glu294=)
|
rs2150674758
|
|
|
NM_014336.5(AIPL1):c.884C>G (p.Pro295Arg)
|
rs1911872542
|
|
|
NM_014336.5(AIPL1):c.884C>T (p.Pro295Leu)
|
|
|
|
NM_014336.5(AIPL1):c.885G>A (p.Pro295=)
|
|
|
|
NM_014336.5(AIPL1):c.88G>T (p.Gly30Ter)
|
|
|
|
NM_014336.5(AIPL1):c.900G>A (p.Ala300=)
|
|
|
|
NM_014336.5(AIPL1):c.905_906del (p.Arg302fs)
|
|
|
|
NM_014336.5(AIPL1):c.917G>A (p.Arg306Lys)
|
|
|
|
NM_014336.5(AIPL1):c.917G>C (p.Arg306Thr)
|
|
|
|
NM_014336.5(AIPL1):c.920T>C (p.Leu307Pro)
|
rs1458797810
|
|
|
NM_014336.5(AIPL1):c.92C>A (p.Ser31Tyr)
|
rs1458100796
|
|
|
NM_014336.5(AIPL1):c.932G>A (p.Arg311His)
|
rs1342076335
|
|
|
NM_014336.5(AIPL1):c.934A>C (p.Met312Leu)
|
rs2150674520
|
|
|
NM_014336.5(AIPL1):c.937G>A (p.Ala313Thr)
|
|
|
|
NM_014336.5(AIPL1):c.939G>C (p.Ala313=)
|
|
|
|
NM_014336.5(AIPL1):c.950dup (p.Glu318fs)
|
|
|
|
NM_014336.5(AIPL1):c.954G>A (p.Glu318=)
|
|
|
|
NM_014336.5(AIPL1):c.958C>T (p.Arg320Trp)
|
rs1445697118
|
|
|
NM_014336.5(AIPL1):c.95G>A (p.Arg32Gln)
|
|
|
|
NM_014336.5(AIPL1):c.95G>C (p.Arg32Pro)
|
rs1377279163
|
|
|
NM_014336.5(AIPL1):c.96+10G>A
|
|
|
|
NM_014336.5(AIPL1):c.96+10G>T
|
|
|
|
NM_014336.5(AIPL1):c.96+14del
|
|
|
|
NM_014336.5(AIPL1):c.96+15T>A
|
|
|
|
NM_014336.5(AIPL1):c.96+7G>T
|
|
|
|
NM_014336.5(AIPL1):c.963G>A (p.Leu321=)
|
rs1010625543
|
|
|
NM_014336.5(AIPL1):c.965G>C (p.Arg322Pro)
|
rs537788083
|
|
|
NM_014336.5(AIPL1):c.969C>T (p.Cys323=)
|
|
|
|
NM_014336.5(AIPL1):c.97-10C>G
|
rs758429483
|
|
|
NM_014336.5(AIPL1):c.97-10C>T
|
rs758429483
|
|
|
NM_014336.5(AIPL1):c.97-18C>T
|
|
|
|
NM_014336.5(AIPL1):c.97-1G>A
|
|
|
|
NM_014336.5(AIPL1):c.970C>A (p.Arg324=)
|
rs375096209
|
|
|
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)
|
rs150427474
|
|
|
NM_014336.5(AIPL1):c.972G>A (p.Arg324=)
|
|
|
|
NM_014336.5(AIPL1):c.972G>T (p.Arg324=)
|
|
|
|
NM_014336.5(AIPL1):c.97G>C (p.Val33Leu)
|
rs1201292222
|
|
|
NM_014336.5(AIPL1):c.981G>A (p.Leu327=)
|
|
|
|
NM_014336.5(AIPL1):c.983G>C (p.Ser328Thr)
|
rs1361890271
|
|
|
NM_014336.5(AIPL1):c.98T>C (p.Val33Ala)
|
rs16955859
|
|
|
NM_014336.5(AIPL1):c.98T>G (p.Val33Gly)
|
rs16955859
|
|
|
NM_014336.5(AIPL1):c.995C>T (p.Thr332Met)
|
rs770159814
|
|
|
NM_014336.5(AIPL1):c.996G>A (p.Thr332=)
|
|
|
|
NM_014336.5(AIPL1):c.996G>T (p.Thr332=)
|
|
|
|
NM_014336.5(AIPL1):c.9C>A (p.Ala3=)
|
|
|