ClinVar Miner

List of variants studied for Leber congenital amaurosis 4 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 415
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HGVS dbSNP gnomAD frequency
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.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.(?_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.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>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.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+12C>G
NM_014336.5(AIPL1):c.276+12del rs1443673396
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.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.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.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.643-4G>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.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.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.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.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.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>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=)

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