ClinVar Miner

List of variants in gene AIPL1 studied for Leber congenital amaurosis 4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 507
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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.*606G>A rs10852881 0.63926
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.*753G>A rs62060993 0.51826
NM_014336.5(AIPL1):c.*1229C>T rs907938 0.28038
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_014336.5(AIPL1):c.*1009A>G rs4577135 0.18830
NM_014336.5(AIPL1):c.*1289G>A rs11869118 0.11250
NM_014336.5(AIPL1):c.*1391C>T rs907939 0.11187
NM_014336.5(AIPL1):c.*1202C>T rs907937 0.10002
NM_014336.5(AIPL1):c.*1018G>A rs2871287 0.08814
NM_014336.5(AIPL1):c.784+18G>A rs7222126 0.05391
NM_014336.5(AIPL1):c.*1658T>C rs78526307 0.05230
NM_014336.5(AIPL1):c.*1568G>A rs11869066 0.03125
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01974
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.01903
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_014336.5(AIPL1):c.*134G>T rs2090068 0.01001
NM_014336.5(AIPL1):c.*1237C>T rs139074266 0.00803
NM_014336.5(AIPL1):c.*1178C>T rs149460055 0.00789
NM_014336.5(AIPL1):c.*188G>A rs1317185 0.00763
NM_014336.5(AIPL1):c.277-14G>A rs117749485 0.00667
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018 0.00643
NM_014336.5(AIPL1):c.642+14G>A rs188779461 0.00635
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser) rs115681466 0.00535
NM_014336.5(AIPL1):c.*1239C>T rs78705285 0.00530
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.*873T>G rs148611105 0.00443
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.*1501G>A rs146027001 0.00351
NM_014336.5(AIPL1):c.*576G>A rs545350972 0.00336
NM_014336.5(AIPL1):c.*390G>T rs182504714 0.00334
NM_014336.5(AIPL1):c.*221G>A rs112307858 0.00295
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_014336.5(AIPL1):c.*53C>T rs151279098 0.00200
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.*1007C>T rs111456528 0.00193
NM_014336.5(AIPL1):c.318G>A (p.Gln106=) rs142208422 0.00185
NM_014336.5(AIPL1):c.*1433A>T rs571509415 0.00176
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) rs144822294 0.00138
NM_014336.5(AIPL1):c.-17C>A rs188246267 0.00132
NM_014336.5(AIPL1):c.*33A>C rs140472462 0.00126
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.234C>T (p.Ser78=) rs62635774 0.00102
NM_014336.5(AIPL1):c.756C>T (p.His252=) rs202182152 0.00102
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_014336.5(AIPL1):c.*150A>C rs886053266 0.00065
NM_014336.5(AIPL1):c.*824G>C rs145706166 0.00065
NM_014336.5(AIPL1):c.*1527T>G rs549099597 0.00058
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845 0.00054
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.834G>A (p.Trp278Ter) rs62637014 0.00037
NM_014336.5(AIPL1):c.627G>A (p.Arg209=) rs142319505 0.00033
NM_014336.5(AIPL1):c.*434C>T rs905874402 0.00031
NM_014336.5(AIPL1):c.*148A>C rs79118582 0.00023
NM_014336.5(AIPL1):c.*748C>T rs543789961 0.00023
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.*1148G>A rs187274630 0.00017
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107 0.00017
NM_014336.5(AIPL1):c.*1017C>T rs868498336 0.00013
NM_014336.5(AIPL1):c.*1534G>A rs780946014 0.00013
NM_014336.5(AIPL1):c.915G>C (p.Leu305=) rs369483430 0.00013
NM_014336.5(AIPL1):c.403G>A (p.Glu135Lys) rs187653323 0.00011
NM_014336.5(AIPL1):c.*749G>A rs574921672 0.00009
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.276+17C>T rs755111451 0.00008
NM_014336.5(AIPL1):c.*280G>A rs886053261 0.00007
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) rs181630986 0.00007
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) rs761622978 0.00007
NM_014336.5(AIPL1):c.*1288C>T rs553220927 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.868G>C (p.Val290Leu) rs375624646 0.00006
NM_014336.5(AIPL1):c.97-14G>A rs770614172 0.00006
NM_014336.5(AIPL1):c.*23C>G rs369568105 0.00005
NM_014336.5(AIPL1):c.1054_1065dup (p.Ala352_Pro355dup) rs776145713 0.00005
NM_014336.5(AIPL1):c.304C>T (p.Arg102Trp) rs151204387 0.00005
NM_014336.5(AIPL1):c.360G>A (p.Thr120=) rs372906107 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.466-7G>A rs756948838 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.*112A>T rs953523528 0.00003
NM_014336.5(AIPL1):c.*146A>C rs898046851 0.00003
NM_014336.5(AIPL1):c.*1693C>T rs117697892 0.00003
NM_014336.5(AIPL1):c.1005C>T (p.Pro335=) rs201570681 0.00003
NM_014336.5(AIPL1):c.1054G>A (p.Ala352Thr) rs751700711 0.00003
NM_014336.5(AIPL1):c.1081G>C (p.Glu361Gln) rs1278686032 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.51G>A (p.Leu17=) rs765416489 0.00003
NM_014336.5(AIPL1):c.113G>A (p.Arg38His) rs759934433 0.00002
NM_014336.5(AIPL1):c.1143G>T (p.Ser381=) rs756123820 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.277-15C>T rs774130041 0.00002
NM_014336.5(AIPL1):c.282G>A (p.Thr94=) rs367611167 0.00002
NM_014336.5(AIPL1):c.285G>A (p.Gly95=) rs1253147024 0.00002
NM_014336.5(AIPL1):c.351C>T (p.His117=) rs370312709 0.00002
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met) rs144579083 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.636G>C (p.Gln212His) rs137891232 0.00002
NM_014336.5(AIPL1):c.642+19G>A rs973387886 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.784+7G>A rs753414394 0.00002
NM_014336.5(AIPL1):c.785-11G>A rs199772097 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.*1444G>A rs886053258 0.00001
NM_014336.5(AIPL1):c.*1455G>T rs886053257 0.00001
NM_014336.5(AIPL1):c.*147A>C rs886053267 0.00001
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.1123C>T (p.Pro375Ser) rs1567634365 0.00001
NM_014336.5(AIPL1):c.1128G>A (p.Pro376=) rs1405231652 0.00001
NM_014336.5(AIPL1):c.1129T>A (p.Ser377Thr) rs757143537 0.00001
NM_014336.5(AIPL1):c.1147C>T (p.Gln383Ter) rs2543874334 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.150C>T (p.Asp50=) rs750387484 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.219G>A (p.Glu73=) rs147275133 0.00001
NM_014336.5(AIPL1):c.21G>C (p.Leu7=) rs1353650064 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.23A>G (p.Asn8Ser) rs1913053614 0.00001
NM_014336.5(AIPL1):c.241G>A (p.Val81Met) rs1329458187 0.00001
NM_014336.5(AIPL1):c.246C>A (p.His82Gln) rs758868216 0.00001
NM_014336.5(AIPL1):c.256G>A (p.Glu86Lys) rs549595673 0.00001
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214 0.00001
NM_014336.5(AIPL1):c.270C>T (p.Asp90=) rs771961624 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.276+7dup rs1425222647 0.00001
NM_014336.5(AIPL1):c.294C>T (p.Pro98=) rs780134658 0.00001
NM_014336.5(AIPL1):c.297C>G (p.Ile99Met) rs145369191 0.00001
NM_014336.5(AIPL1):c.298C>G (p.Leu100Val) rs1223856637 0.00001
NM_014336.5(AIPL1):c.330C>T (p.Gly110=) rs766195408 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.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014336.5(AIPL1):c.389A>G (p.His130Arg) rs750182458 0.00001
NM_014336.5(AIPL1):c.402C>T (p.Tyr134=) rs202187603 0.00001
NM_014336.5(AIPL1):c.420G>A (p.Leu140=) rs771211396 0.00001
NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter) rs200125117 0.00001
NM_014336.5(AIPL1):c.426G>A (p.Lys142=) rs1241901595 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+13T>A rs375300063 0.00001
NM_014336.5(AIPL1):c.465+16G>T rs550096788 0.00001
NM_014336.5(AIPL1):c.465+1G>A rs887335730 0.00001
NM_014336.5(AIPL1):c.465+20G>T rs949725885 0.00001
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091 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.477G>A (p.Pro159=) rs766533358 0.00001
NM_014336.5(AIPL1):c.48T>A (p.Ile16=) rs759542880 0.00001
NM_014336.5(AIPL1):c.515A>G (p.His172Arg) rs1285577966 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.54C>T (p.His18=) rs762071968 0.00001
NM_014336.5(AIPL1):c.559C>T (p.Arg187Trp) rs372483880 0.00001
NM_014336.5(AIPL1):c.55G>C (p.Gly19Arg) rs777056827 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.633G>T (p.Leu211=) rs1358515737 0.00001
NM_014336.5(AIPL1):c.639C>T (p.Thr213=) rs371485219 0.00001
NM_014336.5(AIPL1):c.642+3C>T rs1567636943 0.00001
NM_014336.5(AIPL1):c.643-10C>A rs1912017051 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.741T>C (p.Tyr247=) rs1224103737 0.00001
NM_014336.5(AIPL1):c.746T>C (p.Val249Ala) rs760491360 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+20C>T rs760277261 0.00001
NM_014336.5(AIPL1):c.784+6C>T rs761471244 0.00001
NM_014336.5(AIPL1):c.785G>T (p.Gly262Val) rs201428885 0.00001
NM_014336.5(AIPL1):c.804C>T (p.Tyr268=) rs1911891024 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.843C>G (p.Ala281=) rs1475585636 0.00001
NM_014336.5(AIPL1):c.855G>A (p.Ala285=) rs371635123 0.00001
NM_014336.5(AIPL1):c.917G>A (p.Arg306Lys) rs1307386356 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.95G>A (p.Arg32Gln) rs1377279163 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
NM_014336.5(AIPL1):c.995C>T (p.Thr332Met) rs770159814 0.00001
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
NC_000017.11:g.6436899del rs1913249761
NM_001285403.4(AIPL1):c.466-24_466-21del rs1362798167
NM_014336.5(AIPL1):c.*1165C>T rs528789571
NM_014336.5(AIPL1):c.*1335A>C rs886053260
NM_014336.5(AIPL1):c.*1459G>T rs886053256
NM_014336.5(AIPL1):c.*1537C>A rs886053255
NM_014336.5(AIPL1):c.*1550A>C rs181055698
NM_014336.5(AIPL1):c.*164G>A rs1166950496
NM_014336.5(AIPL1):c.*1679G>C rs886053254
NM_014336.5(AIPL1):c.*486G>T rs1230088097
NM_014336.5(AIPL1):c.*564G>A rs1567633310
NM_014336.5(AIPL1):c.1002T>G (p.Pro334=) rs2543876118
NM_014336.5(AIPL1):c.1004C>T (p.Pro335Leu) rs863223363
NM_014336.5(AIPL1):c.1005del (p.Ala336fs) rs1356057652
NM_014336.5(AIPL1):c.1006_1017del (p.Ala336_Pro339del) rs753988167
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs) rs62637016
NM_014336.5(AIPL1):c.1024C>T (p.Pro342Ser) rs750182531
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=) rs2543875614
NM_014336.5(AIPL1):c.104_105insG (p.Phe35fs) rs1912920081
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.105_106insGTGATCTT (p.His36fs) rs1912919808
NM_014336.5(AIPL1):c.1061C>T (p.Pro354Leu) rs766639726
NM_014336.5(AIPL1):c.1074A>G (p.Pro358=) rs2150673928
NM_014336.5(AIPL1):c.1080A>C (p.Ala360=) rs1597325043
NM_014336.5(AIPL1):c.1081G>A (p.Glu361Lys) rs1278686032
NM_014336.5(AIPL1):c.1084C>T (p.Leu362=) rs2543875186
NM_014336.5(AIPL1):c.1089C>G (p.Ser363=)
NM_014336.5(AIPL1):c.1090G>A (p.Ala364Thr) rs201875142
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=) rs1489599567
NM_014336.5(AIPL1):c.1123C>A (p.Pro375Thr) rs1567634365
NM_014336.5(AIPL1):c.1132C>T (p.Pro378Ser) rs2543874571
NM_014336.5(AIPL1):c.1135G>C (p.Gly379Arg) rs915044721
NM_014336.5(AIPL1):c.1136G>C (p.Gly379Ala) rs1911819341
NM_014336.5(AIPL1):c.1143G>A (p.Ser381=) rs756123820
NM_014336.5(AIPL1):c.1143G>C (p.Ser381=) rs756123820
NM_014336.5(AIPL1):c.1145T>A (p.Leu382Gln) rs751647463
NM_014336.5(AIPL1):c.119T>A (p.Met40Lys) rs1912918119
NM_014336.5(AIPL1):c.119T>C (p.Met40Thr) rs1912918119
NM_014336.5(AIPL1):c.129T>C (p.Asp43=) rs2543916854
NM_014336.5(AIPL1):c.136C>A (p.Arg46=) rs769362312
NM_014336.5(AIPL1):c.136C>T (p.Arg46Trp) rs769362312
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) rs2543916709
NM_014336.5(AIPL1):c.144C>G (p.Val48=) rs2543916721
NM_014336.5(AIPL1):c.146T>C (p.Ile49Thr) rs1172466966
NM_014336.5(AIPL1):c.147T>C (p.Ile49=) rs758342878
NM_014336.5(AIPL1):c.152A>G (p.Asp51Gly) rs1336690304
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=) rs2543916429
NM_014336.5(AIPL1):c.176T>C (p.Met59Thr) rs545384558
NM_014336.5(AIPL1):c.178_179delinsAC (p.His60Thr) rs2543916366
NM_014336.5(AIPL1):c.197T>C (p.Met66Thr) rs1912903681
NM_014336.5(AIPL1):c.1A>G (p.Met1Val) rs757900399
NM_014336.5(AIPL1):c.207C>A (p.Leu69=) rs1273588614
NM_014336.5(AIPL1):c.207C>G (p.Leu69=) rs1273588614
NM_014336.5(AIPL1):c.207C>T (p.Leu69=) rs1273588614
NM_014336.5(AIPL1):c.20T>G (p.Leu7Arg) rs2543922109
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.238C>A (p.Arg80=) rs748210823
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
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=) rs373283640
NM_014336.5(AIPL1):c.255C>T (p.Ala85=) rs373283640
NM_014336.5(AIPL1):c.256G>C (p.Glu86Gln)
NM_014336.5(AIPL1):c.268G>A (p.Asp90Asn) rs12449580
NM_014336.5(AIPL1):c.273C>G (p.Thr91=) rs1057399415
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 rs749188935
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+6T>C rs1567644165
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 rs1303374732
NM_014336.5(AIPL1):c.277-8C>T
NM_014336.5(AIPL1):c.286G>T (p.Val96Phe) rs62619924
NM_014336.5(AIPL1):c.288C>G (p.Val96=) rs2543894019
NM_014336.5(AIPL1):c.289_292del (p.Tyr97fs) rs2543893959
NM_014336.5(AIPL1):c.294del (p.Ile99fs) rs1597331616
NM_014336.5(AIPL1):c.299T>G (p.Leu100Arg)
NM_014336.5(AIPL1):c.2T>C (p.Met1Thr) rs2543922227
NM_014336.5(AIPL1):c.304C>G (p.Arg102Gly) rs151204387
NM_014336.5(AIPL1):c.306G>A (p.Arg102=) rs2543893735
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.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=) rs2543893226
NM_014336.5(AIPL1):c.360G>T (p.Thr120=) rs372906107
NM_014336.5(AIPL1):c.364G>A (p.Gly122Arg) rs201883601
NM_014336.5(AIPL1):c.381C>A (p.Phe127Leu) rs147264906
NM_014336.5(AIPL1):c.381C>T (p.Phe127=) rs147264906
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) rs2543892689
NM_014336.5(AIPL1):c.40A>G (p.Lys14Glu) rs2543921956
NM_014336.5(AIPL1):c.412G>C (p.Asp138His) rs1912211534
NM_014336.5(AIPL1):c.418C>T (p.Leu140=) rs2543892523
NM_014336.5(AIPL1):c.454G>T (p.Glu152Ter) rs150886208
NM_014336.5(AIPL1):c.459G>A (p.Leu153=) rs2543892184
NM_014336.5(AIPL1):c.462G>A (p.Leu154=) rs1185936296
NM_014336.5(AIPL1):c.465+11G>C rs1047778179
NM_014336.5(AIPL1):c.465+19G>A rs1283180629
NM_014336.5(AIPL1):c.465+19G>T rs1283180629
NM_014336.5(AIPL1):c.465+20G>C rs949725885
NM_014336.5(AIPL1):c.465+4G>A rs1447302639
NM_014336.5(AIPL1):c.465+9G>C rs2543892079
NM_014336.5(AIPL1):c.466-10C>T rs2543886889
NM_014336.5(AIPL1):c.466-1G>C rs1567637467
NM_014336.5(AIPL1):c.466-20_466-16del rs1434655295
NM_014336.5(AIPL1):c.476C>G (p.Pro159Arg) rs141575827
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.49C>T (p.Leu17=) rs2543921862
NM_014336.5(AIPL1):c.507G>A (p.Leu169=) rs2543886564
NM_014336.5(AIPL1):c.510C>T (p.Ser170=) rs1198423967
NM_014336.5(AIPL1):c.512dup (p.Asn171fs) rs1912058703
NM_014336.5(AIPL1):c.519G>C (p.Glu173Asp) rs2543886428
NM_014336.5(AIPL1):c.525G>A (p.Met175Ile) rs933903266
NM_014336.5(AIPL1):c.537C>T (p.Pro179=) rs769116975
NM_014336.5(AIPL1):c.540C>A (p.Val180=) rs1912050318
NM_014336.5(AIPL1):c.546C>T (p.His182=) rs745326012
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.561G>C (p.Arg187=) rs1235982401
NM_014336.5(AIPL1):c.567C>T (p.Phe189=) rs755976438
NM_014336.5(AIPL1):c.572T>C (p.Leu191Pro) rs1567637144
NM_014336.5(AIPL1):c.575G>T (p.Gly192Val) rs2543885950
NM_014336.5(AIPL1):c.577C>T (p.Arg193Cys) rs765435117
NM_014336.5(AIPL1):c.582C>G (p.Tyr194Ter) rs368845643
NM_014336.5(AIPL1):c.582C>T (p.Tyr194=) rs368845643
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.589G>C (p.Ala197Pro) rs62637010
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) rs1281214893
NM_014336.5(AIPL1):c.600G>A (p.Lys200=) rs2150677591
NM_014336.5(AIPL1):c.601T>A (p.Tyr201Asn)
NM_014336.5(AIPL1):c.617T>A (p.Ile206Asn) rs62637011
NM_014336.5(AIPL1):c.621C>A (p.Cys207Ter) rs2543885495
NM_014336.5(AIPL1):c.623T>C (p.Leu208Pro) rs2543885473
NM_014336.5(AIPL1):c.642+11G>T rs369625399
NM_014336.5(AIPL1):c.642+20G>A rs778831030
NM_014336.5(AIPL1):c.642+20G>C rs778831030
NM_014336.5(AIPL1):c.642+8G>A rs781135512
NM_014336.5(AIPL1):c.642+8G>T rs781135512
NM_014336.5(AIPL1):c.643-16C>G rs2543884557
NM_014336.5(AIPL1):c.643-16C>T rs2543884557
NM_014336.5(AIPL1):c.643-18G>A
NM_014336.5(AIPL1):c.643-2A>T rs2150677132
NM_014336.5(AIPL1):c.643-4G>A rs756280502
NM_014336.5(AIPL1):c.643-7T>C rs2543884465
NM_014336.5(AIPL1):c.651A>T (p.Pro217=) rs2292546
NM_014336.5(AIPL1):c.657G>A (p.Glu219=) rs2543884352
NM_014336.5(AIPL1):c.663G>A (p.Gln221=) rs2543884281
NM_014336.5(AIPL1):c.665G>A (p.Trp222Ter) rs1912011058
NM_014336.5(AIPL1):c.667C>T (p.Leu223=) rs2543884241
NM_014336.5(AIPL1):c.676_678del (p.Glu226del)
NM_014336.5(AIPL1):c.67G>A (p.Glu23Lys) rs2543921655
NM_014336.5(AIPL1):c.699C>A (p.Ile233=) rs910533562
NM_014336.5(AIPL1):c.699C>T (p.Ile233=) rs910533562
NM_014336.5(AIPL1):c.714G>C (p.Gln238His) rs2543883989
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014336.5(AIPL1):c.717C>T (p.Cys239=) rs1912003045
NM_014336.5(AIPL1):c.720G>A (p.Leu240=) rs2150676960
NM_014336.5(AIPL1):c.721C>T (p.Leu241=) rs1912002347
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=) rs1912000268
NM_014336.5(AIPL1):c.72C>T (p.Leu24=) rs2543921630
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.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=) rs540875983
NM_014336.5(AIPL1):c.772C>T (p.Arg258Trp) rs540875983
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) rs2543883456
NM_014336.5(AIPL1):c.784+10G>C rs2543883251
NM_014336.5(AIPL1):c.784+17G>A rs1911983627
NM_014336.5(AIPL1):c.784+20C>A rs760277261
NM_014336.5(AIPL1):c.784+2T>A
NM_014336.5(AIPL1):c.784+7G>C rs753414394
NM_014336.5(AIPL1):c.785-10_786del rs1911894399
NM_014336.5(AIPL1):c.785-12T>C rs2543878643
NM_014336.5(AIPL1):c.785-14C>T rs1333899057
NM_014336.5(AIPL1):c.785-1_787del rs1392534956
NM_014336.5(AIPL1):c.785-4A>G rs1362966770
NM_014336.5(AIPL1):c.78C>T (p.Asn26=) rs1403472603
NM_014336.5(AIPL1):c.797C>T (p.Ala266Val) rs1447545940
NM_014336.5(AIPL1):c.805G>T (p.Val269Leu) rs774143285
NM_014336.5(AIPL1):c.807G>A (p.Val269=) rs1911890317
NM_014336.5(AIPL1):c.809G>A (p.Arg270His) rs2543878362
NM_014336.5(AIPL1):c.814del (p.Arg272fs) rs2150675032
NM_014336.5(AIPL1):c.817G>T (p.Ala273Ser) rs1911886614
NM_014336.5(AIPL1):c.822C>T (p.His274=) rs775636207
NM_014336.5(AIPL1):c.826G>T (p.Glu276Ter) rs2150674982
NM_014336.5(AIPL1):c.843C>T (p.Ala281=) rs1475585636
NM_014336.5(AIPL1):c.853_854delinsAA (p.Ala285Lys) rs2150674893
NM_014336.5(AIPL1):c.857A>T (p.Asp286Val) rs1567635290
NM_014336.5(AIPL1):c.867A>G (p.Lys289=) rs752381433
NM_014336.5(AIPL1):c.867dup (p.Val290fs) rs2543877681
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) rs1911872542
NM_014336.5(AIPL1):c.885G>A (p.Pro295=) rs1276719586
NM_014336.5(AIPL1):c.88G>T (p.Gly30Ter) rs145112457
NM_014336.5(AIPL1):c.900G>A (p.Ala300=) rs373590751
NM_014336.5(AIPL1):c.905_906del (p.Arg302fs)
NM_014336.5(AIPL1):c.917G>C (p.Arg306Thr) rs1307386356
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) rs115681466
NM_014336.5(AIPL1):c.939G>C (p.Ala313=) rs200401166
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>C (p.Arg32Pro) rs1377279163
NM_014336.5(AIPL1):c.96+10G>A rs1369522704
NM_014336.5(AIPL1):c.96+10G>T rs1369522704
NM_014336.5(AIPL1):c.96+14del rs2543921344
NM_014336.5(AIPL1):c.96+15T>A rs1189742015
NM_014336.5(AIPL1):c.96+4A>T rs772417830
NM_014336.5(AIPL1):c.96+7G>T rs370025894
NM_014336.5(AIPL1):c.963G>A (p.Leu321=) rs1010625543
NM_014336.5(AIPL1):c.963_993dup (p.Thr332fs) rs2150674258
NM_014336.5(AIPL1):c.965G>C (p.Arg322Pro) rs537788083
NM_014336.5(AIPL1):c.969C>T (p.Cys323=) rs752673533
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 rs1357624737
NM_014336.5(AIPL1):c.97-1G>A rs939660584
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=) rs1483744948
NM_014336.5(AIPL1):c.97G>C (p.Val33Leu) rs1201292222
NM_014336.5(AIPL1):c.981G>A (p.Leu327=) rs1911852129
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.996G>A (p.Thr332=) rs748707693
NM_014336.5(AIPL1):c.996G>T (p.Thr332=) rs748707693
NM_014336.5(AIPL1):c.9C>A (p.Ala3=) rs144074523

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