ClinVar Miner

List of variants in gene PDE6A studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 753
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HGVS dbSNP gnomAD frequency
NM_000440.3(PDE6A):c.*2068del rs57328066 0.42609
NM_000440.3(PDE6A):c.1408-34A>G rs2244836 0.31937
NM_000440.3(PDE6A):c.859-63A>G rs11167487 0.31090
NC_000005.10:g.149944813A>T rs2277924 0.26555
NM_000440.3(PDE6A):c.331A>C (p.Arg111=) rs2277925 0.21963
NM_000440.3(PDE6A):c.465C>T (p.Asn155=) rs2277926 0.18879
NM_000440.3(PDE6A):c.1474-59A>G rs10053292 0.12838
NM_000440.3(PDE6A):c.1113+186A>T rs58749632 0.12331
NM_000440.3(PDE6A):c.1066-62G>A rs10045697 0.11708
NM_000440.3(PDE6A):c.2359-121G>A rs55892806 0.11643
NM_000440.3(PDE6A):c.2507-37T>A rs10045293 0.09922
NM_000440.3(PDE6A):c.2136-17G>T rs6864267 0.09116
NM_000440.3(PDE6A):c.2337T>C (p.Phe779=) rs17110644 0.05660
NM_000440.3(PDE6A):c.2424G>A (p.Glu808=) rs10067462 0.04249
NM_000440.3(PDE6A):c.647A>G (p.Asn216Ser) rs10057110 0.04068
NM_000440.3(PDE6A):c.1791C>T (p.Phe597=) rs61733360 0.03204
NM_000440.3(PDE6A):c.2400C>T (p.Asp800=) rs4705390 0.03160
NM_000440.3(PDE6A):c.*2400G>A rs74771814 0.01987
NM_000440.3(PDE6A):c.998+11C>T rs75319698 0.01758
NM_000440.3(PDE6A):c.1171G>A (p.Val391Met) rs61732059 0.01720
NM_000440.3(PDE6A):c.1017T>C (p.His339=) rs61733364 0.01655
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr) rs78775072 0.01647
NM_000440.3(PDE6A):c.84C>T (p.Tyr28=) rs34230349 0.01488
NM_000440.3(PDE6A):c.433G>A (p.Ala145Thr) rs35431421 0.00972
NM_000440.3(PDE6A):c.*169T>C rs150003610 0.00783
NM_000440.3(PDE6A):c.718-18G>A rs113309832 0.00744
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594 0.00665
NM_000440.3(PDE6A):c.-42C>T rs113137904 0.00603
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363 0.00596
NM_000440.3(PDE6A):c.*178T>C rs113302481 0.00521
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966 0.00445
NM_000440.3(PDE6A):c.933+4C>T rs12109444 0.00393
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) rs61733362 0.00312
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000440.3(PDE6A):c.-11G>T rs112926956 0.00230
NM_000440.3(PDE6A):c.102C>T (p.Ser34=) rs140009042 0.00188
NM_000440.3(PDE6A):c.918G>A (p.Arg306=) rs139553131 0.00124
NM_000440.3(PDE6A):c.2568C>T (p.Ser856=) rs147000954 0.00099
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val) rs138315990 0.00098
NM_000440.3(PDE6A):c.2038A>G (p.Met680Val) rs148598583 0.00094
NM_000440.3(PDE6A):c.498G>A (p.Val166=) rs138274547 0.00092
NM_000440.3(PDE6A):c.1744C>T (p.Arg582Cys) rs148785740 0.00084
NM_000440.3(PDE6A):c.343G>A (p.Val115Ile) rs147159579 0.00081
NM_000440.3(PDE6A):c.765C>T (p.Ile255=) rs141300510 0.00080
NM_000440.3(PDE6A):c.940A>C (p.Asn314His) rs150755165 0.00071
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) rs148938083 0.00069
NM_000440.3(PDE6A):c.1408-11G>A rs201527437 0.00059
NM_000440.3(PDE6A):c.177A>G (p.Glu59=) rs146550067 0.00050
NM_000440.3(PDE6A):c.2274+11_2274+12del rs779117136 0.00050
NM_000440.3(PDE6A):c.2238T>G (p.Gly746=) rs145809648 0.00048
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser) rs145107955 0.00038
NM_000440.3(PDE6A):c.456C>T (p.Asn152=) rs149256612 0.00038
NM_000440.3(PDE6A):c.2144T>C (p.Met715Thr) rs144970068 0.00036
NM_000440.3(PDE6A):c.298C>T (p.Arg100Trp) rs200540105 0.00033
NM_000440.3(PDE6A):c.1614A>G (p.Pro538=) rs139697733 0.00032
NM_000440.3(PDE6A):c.1952A>G (p.Asn651Ser) rs149380104 0.00029
NM_000440.3(PDE6A):c.916A>G (p.Arg306Gly) rs369683948 0.00029
NM_000440.3(PDE6A):c.497T>C (p.Val166Ala) rs199887926 0.00026
NM_000440.3(PDE6A):c.282G>A (p.Met94Ile) rs150808864 0.00023
NM_000440.3(PDE6A):c.1040C>T (p.Pro347Leu) rs144824223 0.00021
NM_000440.3(PDE6A):c.1534C>T (p.Pro512Ser) rs138002814 0.00021
NM_000440.3(PDE6A):c.216A>G (p.Leu72=) rs570928102 0.00021
NM_000440.3(PDE6A):c.853C>A (p.Gln285Lys) rs201406216 0.00020
NM_000440.3(PDE6A):c.1167G>A (p.Pro389=) rs199676934 0.00019
NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val) rs147047715 0.00019
NM_000440.3(PDE6A):c.316G>A (p.Ala106Thr) rs200696413 0.00019
NM_000440.3(PDE6A):c.196C>T (p.Arg66Trp) rs149945348 0.00017
NM_000440.3(PDE6A):c.2125G>A (p.Glu709Lys) rs148637474 0.00016
NM_000440.3(PDE6A):c.2182T>C (p.Trp728Arg) rs143980724 0.00016
NM_000440.3(PDE6A):c.2275-12C>T rs369288898 0.00016
NM_000440.3(PDE6A):c.879G>A (p.Pro293=) rs137853899 0.00016
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_000440.3(PDE6A):c.2252C>T (p.Thr751Met) rs143080578 0.00015
NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys) rs199748187 0.00014
NM_000440.3(PDE6A):c.998C>T (p.Pro333Leu) rs368428076 0.00014
NM_000440.3(PDE6A):c.1066-7C>G rs370250500 0.00013
NM_000440.3(PDE6A):c.594G>A (p.Val198=) rs398123394 0.00013
NM_000440.3(PDE6A):c.1728+13C>T rs144868706 0.00011
NM_000440.3(PDE6A):c.1927-20G>A rs371677858 0.00011
NM_000440.3(PDE6A):c.2349C>T (p.Phe783=) rs202092523 0.00011
NM_000440.3(PDE6A):c.2359-17C>T rs368621811 0.00011
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln) rs199738915 0.00011
NM_000440.3(PDE6A):c.707G>T (p.Arg236Leu) rs145035471 0.00011
NM_000440.3(PDE6A):c.103G>A (p.Asp35Asn) rs374847529 0.00010
NM_000440.3(PDE6A):c.2037G>A (p.Thr679=) rs140267699 0.00010
NM_000440.3(PDE6A):c.2249G>A (p.Arg750His) rs146145709 0.00010
NM_000440.3(PDE6A):c.2275-10C>T rs148881523 0.00010
NM_000440.3(PDE6A):c.2526G>A (p.Pro842=) rs376909494 0.00010
NM_000440.3(PDE6A):c.277C>T (p.Arg93Cys) rs200297339 0.00010
NM_000440.3(PDE6A):c.1092G>A (p.Ala364=) rs774836540 0.00009
NM_000440.3(PDE6A):c.1473+12C>T rs201026028 0.00009
NM_000440.3(PDE6A):c.1745G>A (p.Arg582His) rs77760924 0.00009
NM_000440.3(PDE6A):c.1814G>A (p.Gly605Asp) rs573153907 0.00009
NM_000440.3(PDE6A):c.2005A>G (p.Thr669Ala) rs142369291 0.00009
NM_000440.3(PDE6A):c.2119C>T (p.Arg707Trp) rs142092713 0.00009
NM_000440.3(PDE6A):c.2248C>T (p.Arg750Cys) rs577146307 0.00009
NM_000440.3(PDE6A):c.2411A>G (p.Asn804Ser) rs138949704 0.00009
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn) rs199924410 0.00009
NM_000440.3(PDE6A):c.457G>A (p.Val153Ile) rs556692354 0.00009
NM_000440.3(PDE6A):c.710G>A (p.Arg237His) rs772815917 0.00009
NM_000440.3(PDE6A):c.830T>C (p.Val277Ala) rs145608358 0.00009
NM_000440.3(PDE6A):c.870T>G (p.Asp290Glu) rs140471904 0.00009
NM_000440.3(PDE6A):c.1836G>A (p.Met612Ile) rs142934552 0.00008
NM_000440.3(PDE6A):c.130G>A (p.Val44Met) rs764525413 0.00007
NM_000440.3(PDE6A):c.1434G>A (p.Glu478=) rs138205652 0.00007
NM_000440.3(PDE6A):c.1479G>A (p.Ala493=) rs772707339 0.00007
NM_000440.3(PDE6A):c.1714T>C (p.Phe572Leu) rs370091675 0.00007
NM_000440.3(PDE6A):c.1032C>T (p.Ser344=) rs121918577 0.00006
NM_000440.3(PDE6A):c.1051G>T (p.Ala351Ser) rs768196089 0.00006
NM_000440.3(PDE6A):c.1066-14T>C rs921783241 0.00006
NM_000440.3(PDE6A):c.1253C>T (p.Thr418Met) rs756518779 0.00006
NM_000440.3(PDE6A):c.1255C>T (p.Leu419Phe) rs141370975 0.00006
NM_000440.3(PDE6A):c.1468A>G (p.Ile490Val) rs150437408 0.00006
NM_000440.3(PDE6A):c.1540A>G (p.Thr514Ala) rs147653202 0.00006
NM_000440.3(PDE6A):c.1695C>T (p.Phe565=) rs555717382 0.00006
NM_000440.3(PDE6A):c.1728+7C>T rs200781025 0.00006
NM_000440.3(PDE6A):c.1755G>A (p.Thr585=) rs139011078 0.00006
NM_000440.3(PDE6A):c.1958G>A (p.Arg653Gln) rs777944622 0.00006
NM_000440.3(PDE6A):c.2053G>A (p.Val685Met) rs121909835 0.00006
NM_000440.3(PDE6A):c.2275-1G>A rs1428612396 0.00006
NM_000440.3(PDE6A):c.2479A>C (p.Lys827Gln) rs780450680 0.00006
NM_000440.3(PDE6A):c.711T>C (p.Arg237=) rs953914552 0.00006
NM_000440.3(PDE6A):c.717+5G>A rs369249828 0.00006
NM_000440.3(PDE6A):c.843C>G (p.Asp281Glu) rs779249305 0.00006
NM_000440.3(PDE6A):c.1115A>G (p.Lys372Arg) rs376605128 0.00005
NM_000440.3(PDE6A):c.1249G>C (p.Glu417Gln) rs375091822 0.00005
NM_000440.3(PDE6A):c.1296A>G (p.Leu432=) rs372161698 0.00005
NM_000440.3(PDE6A):c.1754C>T (p.Thr585Met) rs547792004 0.00005
NM_000440.3(PDE6A):c.1807C>G (p.His603Asp) rs759801201 0.00005
NM_000440.3(PDE6A):c.2131G>A (p.Val711Ile) rs764962408 0.00005
NM_000440.3(PDE6A):c.285C>T (p.Ser95=) rs765008436 0.00005
NM_000440.3(PDE6A):c.363C>T (p.Leu121=) rs767520227 0.00005
NM_000440.3(PDE6A):c.766G>A (p.Glu256Lys) rs756399357 0.00005
NM_000440.3(PDE6A):c.1033G>A (p.Gly345Ser) rs769449516 0.00004
NM_000440.3(PDE6A):c.1349T>C (p.Phe450Ser) rs185588836 0.00004
NM_000440.3(PDE6A):c.1473+13G>A rs745516870 0.00004
NM_000440.3(PDE6A):c.1473+5G>A rs376233776 0.00004
NM_000440.3(PDE6A):c.1474-10C>A rs767861672 0.00004
NM_000440.3(PDE6A):c.1474-17C>T rs376831400 0.00004
NM_000440.3(PDE6A):c.1621-9T>A rs748474348 0.00004
NM_000440.3(PDE6A):c.1824C>G (p.Asn608Lys) rs773601046 0.00004
NM_000440.3(PDE6A):c.1874C>T (p.Ser625Phe) rs201535083 0.00004
NM_000440.3(PDE6A):c.2052C>T (p.Ile684=) rs772049478 0.00004
NM_000440.3(PDE6A):c.2240A>G (p.Asp747Gly) rs766135543 0.00004
NM_000440.3(PDE6A):c.240T>C (p.Asn80=) rs776664462 0.00004
NM_000440.3(PDE6A):c.2432C>T (p.Ala811Val) rs770823436 0.00004
NM_000440.3(PDE6A):c.251A>T (p.Lys84Met) rs771965437 0.00004
NM_000440.3(PDE6A):c.305G>A (p.Arg102His) rs750539462 0.00004
NM_000440.3(PDE6A):c.363_365del (p.Glu122del) rs758028794 0.00004
NM_000440.3(PDE6A):c.384C>T (p.Pro128=) rs192618681 0.00004
NM_000440.3(PDE6A):c.397G>A (p.Val133Ile) rs768596256 0.00004
NM_000440.3(PDE6A):c.412A>G (p.Met138Val) rs746179949 0.00004
NM_000440.3(PDE6A):c.474+11C>T rs570825152 0.00004
NM_000440.3(PDE6A):c.623A>G (p.Glu208Gly) rs752916121 0.00004
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_000440.3(PDE6A):c.799C>T (p.Arg267Cys) rs368516694 0.00004
NM_000440.3(PDE6A):c.7G>A (p.Glu3Lys) rs577050700 0.00004
NM_000440.3(PDE6A):c.1503C>T (p.Tyr501=) rs780997137 0.00003
NM_000440.3(PDE6A):c.1602A>T (p.Lys534Asn) rs1352884400 0.00003
NM_000440.3(PDE6A):c.1728+8G>A rs372315011 0.00003
NM_000440.3(PDE6A):c.1928G>T (p.Ser643Ile) rs578228152 0.00003
NM_000440.3(PDE6A):c.2013C>T (p.Leu671=) rs769405151 0.00003
NM_000440.3(PDE6A):c.2253G>A (p.Thr751=) rs772097551 0.00003
NM_000440.3(PDE6A):c.2448C>T (p.Tyr816=) rs769636229 0.00003
NM_000440.3(PDE6A):c.45G>A (p.Ser15=) rs146811139 0.00003
NM_000440.3(PDE6A):c.709C>T (p.Arg237Cys) rs761022237 0.00003
NM_000440.3(PDE6A):c.758C>T (p.Thr253Met) rs778857421 0.00003
NM_000440.3(PDE6A):c.858+10C>T rs370635591 0.00003
NM_000440.3(PDE6A):c.85C>T (p.Arg29Trp) rs201025404 0.00003
NM_000440.3(PDE6A):c.998+1G>A rs748946491 0.00003
NM_000440.3(PDE6A):c.9G>A (p.Glu3=) rs770411090 0.00003
NM_000440.3(PDE6A):c.1114-4G>A rs368623577 0.00002
NM_000440.3(PDE6A):c.1310A>G (p.Tyr437Cys) rs765974352 0.00002
NM_000440.3(PDE6A):c.156G>A (p.Pro52=) rs765977242 0.00002
NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln) rs373537826 0.00002
NM_000440.3(PDE6A):c.1699G>A (p.Val567Met) rs537906487 0.00002
NM_000440.3(PDE6A):c.1723C>T (p.Leu575=) rs767206584 0.00002
NM_000440.3(PDE6A):c.1736A>G (p.Lys579Arg) rs368690470 0.00002
NM_000440.3(PDE6A):c.1927-5T>C rs772762362 0.00002
NM_000440.3(PDE6A):c.2033G>C (p.Arg678Thr) rs147636561 0.00002
NM_000440.3(PDE6A):c.2095C>A (p.Gln699Lys) rs781169571 0.00002
NM_000440.3(PDE6A):c.2130C>T (p.Ile710=) rs750000569 0.00002
NM_000440.3(PDE6A):c.2152G>A (p.Ala718Thr) rs545847713 0.00002
NM_000440.3(PDE6A):c.2325C>T (p.Gly775=) rs1243259073 0.00002
NM_000440.3(PDE6A):c.2369G>A (p.Arg790His) rs375516599 0.00002
NM_000440.3(PDE6A):c.2416C>T (p.Arg806Cys) rs771530664 0.00002
NM_000440.3(PDE6A):c.2495C>T (p.Ser832Leu) rs750503504 0.00002
NM_000440.3(PDE6A):c.2508A>T (p.Ala836=) rs893912674 0.00002
NM_000440.3(PDE6A):c.2510C>T (p.Ala837Val) rs757358359 0.00002
NM_000440.3(PDE6A):c.2525C>T (p.Pro842Leu) rs542180384 0.00002
NM_000440.3(PDE6A):c.2534A>T (p.Asn845Ile) rs765192034 0.00002
NM_000440.3(PDE6A):c.2548_2552del (p.Gly850fs) rs1240421230 0.00002
NM_000440.3(PDE6A):c.293T>C (p.Met98Thr) rs760522551 0.00002
NM_000440.3(PDE6A):c.2T>C (p.Met1Thr) rs943943635 0.00002
NM_000440.3(PDE6A):c.310G>C (p.Gly104Arg) rs1030770784 0.00002
NM_000440.3(PDE6A):c.420C>T (p.Ile140=) rs542505960 0.00002
NM_000440.3(PDE6A):c.481C>G (p.His161Asp) rs758150381 0.00002
NM_000440.3(PDE6A):c.545T>A (p.Ile182Lys) rs773613457 0.00002
NM_000440.3(PDE6A):c.549G>T (p.Met183Ile) rs770121117 0.00002
NM_000440.3(PDE6A):c.60C>G (p.Ala20=) rs765355369 0.00002
NM_000440.3(PDE6A):c.713G>A (p.Gly238Asp) rs572067661 0.00002
NM_000440.3(PDE6A):c.717+15C>T rs747210942 0.00002
NM_000440.3(PDE6A):c.763A>G (p.Ile255Val) rs757371264 0.00002
NM_000440.3(PDE6A):c.857A>G (p.Lys286Arg) rs1754018696 0.00002
NM_000440.3(PDE6A):c.981G>A (p.Glu327=) rs772714338 0.00002
NM_000440.3(PDE6A):c.1046A>T (p.Tyr349Phe) rs776115440 0.00001
NM_000440.3(PDE6A):c.1063C>T (p.Leu355=) rs780461144 0.00001
NM_000440.3(PDE6A):c.1074C>T (p.Asn358=) rs758801133 0.00001
NM_000440.3(PDE6A):c.110T>C (p.Leu37Pro) rs371269459 0.00001
NM_000440.3(PDE6A):c.1113+1G>A rs372346866 0.00001
NM_000440.3(PDE6A):c.1113+5G>A rs539563649 0.00001
NM_000440.3(PDE6A):c.1122T>G (p.Pro374=) rs1000642696 0.00001
NM_000440.3(PDE6A):c.1127A>C (p.Asp376Ala) rs752457116 0.00001
NM_000440.3(PDE6A):c.1165C>T (p.Pro389Ser) rs1305050912 0.00001
NM_000440.3(PDE6A):c.1206A>G (p.Thr402=) rs780335505 0.00001
NM_000440.3(PDE6A):c.1243A>G (p.Met415Val) rs754379939 0.00001
NM_000440.3(PDE6A):c.1263+14G>A rs1239897985 0.00001
NM_000440.3(PDE6A):c.1263+15G>C rs762978984 0.00001
NM_000440.3(PDE6A):c.1264-6T>A rs1475526153 0.00001
NM_000440.3(PDE6A):c.1275A>T (p.Gln425His) rs778351337 0.00001
NM_000440.3(PDE6A):c.1300C>T (p.Pro434Ser) rs754647492 0.00001
NM_000440.3(PDE6A):c.1355A>T (p.Asp452Val) rs763913898 0.00001
NM_000440.3(PDE6A):c.1376A>C (p.Lys459Thr) rs770935897 0.00001
NM_000440.3(PDE6A):c.1377G>C (p.Lys459Asn) rs965379528 0.00001
NM_000440.3(PDE6A):c.1407+1G>C rs781616522 0.00001
NM_000440.3(PDE6A):c.1407G>C (p.Leu469Phe) rs727504073 0.00001
NM_000440.3(PDE6A):c.1452A>G (p.Glu484=) rs1322636309 0.00001
NM_000440.3(PDE6A):c.1472T>A (p.Leu491Gln) rs1257912454 0.00001
NM_000440.3(PDE6A):c.1473+14G>A rs778440533 0.00001
NM_000440.3(PDE6A):c.1478C>T (p.Ala493Val) rs373624745 0.00001
NM_000440.3(PDE6A):c.1483C>T (p.Leu495=) rs769353417 0.00001
NM_000440.3(PDE6A):c.1488A>G (p.Pro496=) rs151252699 0.00001
NM_000440.3(PDE6A):c.1576T>C (p.Tyr526His) rs370512402 0.00001
NM_000440.3(PDE6A):c.1607A>G (p.His536Arg) rs890622058 0.00001
NM_000440.3(PDE6A):c.1620+1G>A rs781377291 0.00001
NM_000440.3(PDE6A):c.1620+2T>A rs1383907349 0.00001
NM_000440.3(PDE6A):c.1620+7T>G rs755438886 0.00001
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=) rs727504072 0.00001
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp) rs144484128 0.00001
NM_000440.3(PDE6A):c.1654G>T (p.Gly552Cys) rs1365595687 0.00001
NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp) rs759589388 0.00001
NM_000440.3(PDE6A):c.1698C>T (p.Asn566=) rs149698452 0.00001
NM_000440.3(PDE6A):c.1707G>A (p.Gln569=) rs190218524 0.00001
NM_000440.3(PDE6A):c.1729-15T>C rs367796771 0.00001
NM_000440.3(PDE6A):c.1729-4C>T rs555052906 0.00001
NM_000440.3(PDE6A):c.1730C>T (p.Thr577Met) rs765007196 0.00001
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) rs121918576 0.00001
NM_000440.3(PDE6A):c.1798G>T (p.Asp600Tyr) rs765024330 0.00001
NM_000440.3(PDE6A):c.188A>G (p.Asp63Gly) rs757427372 0.00001
NM_000440.3(PDE6A):c.1915C>G (p.Leu639Val) rs1484680858 0.00001
NM_000440.3(PDE6A):c.1955G>A (p.Arg652His) rs757363164 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000440.3(PDE6A):c.197G>A (p.Arg66Gln) rs753177050 0.00001
NM_000440.3(PDE6A):c.1997T>A (p.Ile666Asn) rs1472501176 0.00001
NM_000440.3(PDE6A):c.2028-11A>T rs751895061 0.00001
NM_000440.3(PDE6A):c.2096A>T (p.Gln699Leu) rs909565362 0.00001
NM_000440.3(PDE6A):c.2136G>A (p.Met712Ile) rs574549728 0.00001
NM_000440.3(PDE6A):c.2166A>G (p.Ser722=) rs777359709 0.00001
NM_000440.3(PDE6A):c.2170A>G (p.Ile724Val) rs755688626 0.00001
NM_000440.3(PDE6A):c.2183G>A (p.Trp728Ter) rs1561679951 0.00001
NM_000440.3(PDE6A):c.2254G>A (p.Val752Met) rs536549575 0.00001
NM_000440.3(PDE6A):c.2275-3C>G rs1760328387 0.00001
NM_000440.3(PDE6A):c.2301T>C (p.Asp767=) rs201085169 0.00001
NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter) rs759563967 0.00001
NM_000440.3(PDE6A):c.2310T>C (p.Pro770=) rs1376891006 0.00001
NM_000440.3(PDE6A):c.2350G>A (p.Val784Ile) rs746482403 0.00001
NM_000440.3(PDE6A):c.2355C>T (p.Tyr785=) rs201275090 0.00001
NM_000440.3(PDE6A):c.2376C>T (p.His792=) rs755144386 0.00001
NM_000440.3(PDE6A):c.2377G>A (p.Glu793Lys) rs141546165 0.00001
NM_000440.3(PDE6A):c.238A>G (p.Asn80Asp) rs373452105 0.00001
NM_000440.3(PDE6A):c.2392A>G (p.Met798Val) rs750914798 0.00001
NM_000440.3(PDE6A):c.2398G>T (p.Asp800Tyr) rs765819449 0.00001
NM_000440.3(PDE6A):c.2399del (p.Asp800fs) rs1261317873 0.00001
NM_000440.3(PDE6A):c.241G>A (p.Val81Ile) rs369262314 0.00001
NM_000440.3(PDE6A):c.2426G>A (p.Trp809Ter) rs979416907 0.00001
NM_000440.3(PDE6A):c.2433G>A (p.Ala811=) rs749307093 0.00001
NM_000440.3(PDE6A):c.2435T>C (p.Leu812Pro) rs777373238 0.00001
NM_000440.3(PDE6A):c.2523G>A (p.Gln841=) rs753027862 0.00001
NM_000440.3(PDE6A):c.2559A>C (p.Thr853=) rs1322756731 0.00001
NM_000440.3(PDE6A):c.2578C>T (p.Gln860Ter) rs1357199744 0.00001
NM_000440.3(PDE6A):c.279C>T (p.Arg93=) rs1158661149 0.00001
NM_000440.3(PDE6A):c.286C>T (p.Leu96=) rs148052388 0.00001
NM_000440.3(PDE6A):c.301A>G (p.Thr101Ala) rs992173173 0.00001
NM_000440.3(PDE6A):c.325G>A (p.Ala109Thr) rs954490455 0.00001
NM_000440.3(PDE6A):c.341A>G (p.Asn114Ser) rs762149775 0.00001
NM_000440.3(PDE6A):c.364G>A (p.Glu122Lys) rs899608908 0.00001
NM_000440.3(PDE6A):c.39G>A (p.Leu13=) rs752568832 0.00001
NM_000440.3(PDE6A):c.425G>A (p.Gly142Asp) rs372268962 0.00001
NM_000440.3(PDE6A):c.43T>A (p.Ser15Thr) rs1754417825 0.00001
NM_000440.3(PDE6A):c.461C>A (p.Pro154His) rs766132231 0.00001
NM_000440.3(PDE6A):c.509C>A (p.Thr170Lys) rs767680793 0.00001
NM_000440.3(PDE6A):c.513G>C (p.Glu171Asp) rs759709649 0.00001
NM_000440.3(PDE6A):c.523A>G (p.Lys175Glu) rs1754133565 0.00001
NM_000440.3(PDE6A):c.604C>G (p.His202Asp) rs374696142 0.00001
NM_000440.3(PDE6A):c.614A>G (p.Lys205Arg) rs898179811 0.00001
NM_000440.3(PDE6A):c.628-1G>C rs753687039 0.00001
NM_000440.3(PDE6A):c.628-5T>G rs757034771 0.00001
NM_000440.3(PDE6A):c.678C>T (p.His226=) rs762172422 0.00001
NM_000440.3(PDE6A):c.6C>T (p.Gly2=) rs745322421 0.00001
NM_000440.3(PDE6A):c.755T>C (p.Leu252Pro) rs1394948262 0.00001
NM_000440.3(PDE6A):c.858G>A (p.Lys286=) rs1284884737 0.00001
NM_000440.3(PDE6A):c.859-13T>C rs748579622 0.00001
NM_000440.3(PDE6A):c.880G>T (p.Val294Phe) rs980364042 0.00001
NM_000440.3(PDE6A):c.926A>G (p.Asp309Gly) rs1277469106 0.00001
NM_000440.3(PDE6A):c.934-19T>G rs1450675487 0.00001
NM_000440.3(PDE6A):c.934-9T>C rs754699776 0.00001
NM_000440.3(PDE6A):c.951G>A (p.Lys317=) rs1243383426 0.00001
NM_000440.3(PDE6A):c.95T>G (p.Leu32Arg) rs1754416153 0.00001
NM_000440.3(PDE6A):c.965T>A (p.Ile322Asn) rs1286172705 0.00001
NM_000440.3(PDE6A):c.970C>T (p.His324Tyr) rs372159495 0.00001
NM_000440.3(PDE6A):c.974G>A (p.Gly325Asp) rs1291072367 0.00001
NC_000005.10:g.(?_149860895)_(149886374_?)dup
NC_000005.9:g.(?_149240458)_(149240554_?)dup
NC_000005.9:g.(?_149240458)_(149265957_?)dup
NC_000005.9:g.(?_149245713)_(149263119_?)del
NC_000005.9:g.(?_149260346)_(149263094_?)del
NC_000005.9:g.(?_149262972)_(149276359_?)del
NC_000005.9:g.(?_149262972)_(149279107_?)dup
NC_000005.9:g.(?_149264323)_(149286961_?)dup
NC_000005.9:g.(?_149274726)_(149274873_?)del
NC_000005.9:g.(?_149277906)_(149301292_?)del
NC_000005.9:g.(?_149278079)_(149280940_?)del
NC_000005.9:g.(?_149294486)_(149294590_?)del
NC_000005.9:g.(?_149294506)_(149294570_?)del
NC_000005.9:g.(?_149301178)_(149301292_?)del
NC_000005.9:g.(?_149313473)_(149314301_?)del
NM_000440.3(PDE6A):c.*2068G>A rs251458
NM_000440.3(PDE6A):c.*2077_*2078dup rs764134058
NM_000440.3(PDE6A):c.*241del rs36043437
NM_000440.3(PDE6A):c.*241dup rs36043437
NM_000440.3(PDE6A):c.1010del (p.Pro337fs)
NM_000440.3(PDE6A):c.1012G>C (p.Asp338His) rs1159625284
NM_000440.3(PDE6A):c.1015C>A (p.His339Asn)
NM_000440.3(PDE6A):c.1016A>T (p.His339Leu) rs755174137
NM_000440.3(PDE6A):c.1033G>C (p.Gly345Arg) rs769449516
NM_000440.3(PDE6A):c.1038C>G (p.Leu346=)
NM_000440.3(PDE6A):c.1047T>C (p.Tyr349=) rs2113616211
NM_000440.3(PDE6A):c.1057A>G (p.Asn353Asp) rs1561751067
NM_000440.3(PDE6A):c.1065+1G>T
NM_000440.3(PDE6A):c.1065+2T>A rs1554090012
NM_000440.3(PDE6A):c.1066-10C>T rs1753073308
NM_000440.3(PDE6A):c.1066-148G>A rs251346
NM_000440.3(PDE6A):c.106C>T (p.Leu36Phe) rs1393711147
NM_000440.3(PDE6A):c.1075A>G (p.Ile359Val) rs1753072383
NM_000440.3(PDE6A):c.1091C>T (p.Ala364Val) rs200858325
NM_000440.3(PDE6A):c.1097del (p.Asp366fs) rs1581186849
NM_000440.3(PDE6A):c.1113+11T>A
NM_000440.3(PDE6A):c.1113+199A>G rs152951
NM_000440.3(PDE6A):c.1113+9T>C
NM_000440.3(PDE6A):c.1114-13C>A
NM_000440.3(PDE6A):c.1114-18C>A rs754220779
NM_000440.3(PDE6A):c.1114-9_1114-5del rs1561737370
NM_000440.3(PDE6A):c.1117G>T (p.Glu373Ter) rs2113595869
NM_000440.3(PDE6A):c.1121C>A (p.Pro374His) rs1054536815
NM_000440.3(PDE6A):c.1136G>A (p.Gly379Glu)
NM_000440.3(PDE6A):c.1142T>G (p.Met381Arg)
NM_000440.3(PDE6A):c.1145T>C (p.Ile382Thr)
NM_000440.3(PDE6A):c.114G>C (p.Gly38=)
NM_000440.3(PDE6A):c.1156C>T (p.Leu386Phe) rs1247715440
NM_000440.3(PDE6A):c.1161A>G (p.Ser387=)
NM_000440.3(PDE6A):c.1161_1162insCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATGTGCTTTCA (p.Met388delinsProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
NM_000440.3(PDE6A):c.1166C>G (p.Pro389Arg)
NM_000440.3(PDE6A):c.1166C>T (p.Pro389Leu)
NM_000440.3(PDE6A):c.1180A>G (p.Lys394Glu) rs771017122
NM_000440.3(PDE6A):c.1195G>C (p.Gly399Arg) rs1752884635
NM_000440.3(PDE6A):c.120G>C (p.Lys40Asn) rs1754415399
NM_000440.3(PDE6A):c.1216C>A (p.Arg406Ser) rs745976733
NM_000440.3(PDE6A):c.1216C>T (p.Arg406Cys)
NM_000440.3(PDE6A):c.1217G>A (p.Arg406His)
NM_000440.3(PDE6A):c.1219A>G (p.Lys407Glu) rs1269193144
NM_000440.3(PDE6A):c.1225G>A (p.Gly409Arg)
NM_000440.3(PDE6A):c.1237G>T (p.Asp413Tyr)
NM_000440.3(PDE6A):c.124G>T (p.Ala42Ser) rs779057640
NM_000440.3(PDE6A):c.1250A>G (p.Glu417Gly) rs1752881126
NM_000440.3(PDE6A):c.1254G>A (p.Thr418=)
NM_000440.3(PDE6A):c.1256T>A (p.Leu419His) rs1056149139
NM_000440.3(PDE6A):c.1261G>C (p.Glu421Gln)
NM_000440.3(PDE6A):c.1263+1G>A rs369896113
NM_000440.3(PDE6A):c.1263+1G>T rs369896113
NM_000440.3(PDE6A):c.1263+7C>T
NM_000440.3(PDE6A):c.1264-16T>A
NM_000440.3(PDE6A):c.1264-17CTTT[4] rs538441314
NM_000440.3(PDE6A):c.1264-18C>A
NM_000440.3(PDE6A):c.1264-3C>G rs1752843025
NM_000440.3(PDE6A):c.1264-5_1264-4del
NM_000440.3(PDE6A):c.1268del (p.Ser422_Leu423insTer) rs1456336365
NM_000440.3(PDE6A):c.1286G>A (p.Trp429Ter) rs1390479623
NM_000440.3(PDE6A):c.129C>T (p.Ala43=)
NM_000440.3(PDE6A):c.1307C>A (p.Thr436Asn) rs2113592754
NM_000440.3(PDE6A):c.1311T>A (p.Tyr437Ter)
NM_000440.3(PDE6A):c.1316C>T (p.Ser439Leu) rs2113592687
NM_000440.3(PDE6A):c.133G>A (p.Asp45Asn)
NM_000440.3(PDE6A):c.1345A>G (p.Ile449Val)
NM_000440.3(PDE6A):c.1359dup (p.Val454fs)
NM_000440.3(PDE6A):c.1361del (p.Val454fs) rs1064797315
NM_000440.3(PDE6A):c.1363A>T (p.Lys455Ter)
NM_000440.3(PDE6A):c.1380T>C (p.Cys460=)
NM_000440.3(PDE6A):c.1399A>C (p.Lys467Gln)
NM_000440.3(PDE6A):c.1407+12T>C rs2113592288
NM_000440.3(PDE6A):c.1407+18C>G rs144188232
NM_000440.3(PDE6A):c.1407+18C>T
NM_000440.3(PDE6A):c.1408-17A>G
NM_000440.3(PDE6A):c.1408-2A>G rs1060499536
NM_000440.3(PDE6A):c.1411A>C (p.Thr471Pro) rs2113588157
NM_000440.3(PDE6A):c.1419G>A (p.Glu473=)
NM_000440.3(PDE6A):c.1422G>A (p.Val474=)
NM_000440.3(PDE6A):c.1426G>A (p.Gly476Arg) rs1752768586
NM_000440.3(PDE6A):c.1432G>C (p.Glu478Gln) rs752469869
NM_000440.3(PDE6A):c.1437A>G (p.Pro479=) rs2113587986
NM_000440.3(PDE6A):c.1439G>T (p.Trp480Leu) rs962591995
NM_000440.3(PDE6A):c.1444T>C (p.Cys482Arg)
NM_000440.3(PDE6A):c.1466A>G (p.Glu489Gly) rs2113587889
NM_000440.3(PDE6A):c.1472T>C (p.Leu491Pro)
NM_000440.3(PDE6A):c.1473+15G>A
NM_000440.3(PDE6A):c.1473+18A>G
NM_000440.3(PDE6A):c.1473+20C>A
NM_000440.3(PDE6A):c.1474-15C>T
NM_000440.3(PDE6A):c.1474-1G>A
NM_000440.3(PDE6A):c.1474-5T>C rs1366454116
NM_000440.3(PDE6A):c.147C>T (p.Tyr49=)
NM_000440.3(PDE6A):c.1485G>A (p.Leu495=)
NM_000440.3(PDE6A):c.1490A>G (p.Asp497Gly)
NM_000440.3(PDE6A):c.1503C>A (p.Tyr501Ter)
NM_000440.3(PDE6A):c.1509T>A (p.Ile503=)
NM_000440.3(PDE6A):c.1520A>G (p.His507Arg)
NM_000440.3(PDE6A):c.1535C>T (p.Pro512Leu)
NM_000440.3(PDE6A):c.1538del (p.Leu513fs)
NM_000440.3(PDE6A):c.1546C>A (p.Leu516Met) rs61733362
NM_000440.3(PDE6A):c.1551G>A (p.Glu517=)
NM_000440.3(PDE6A):c.155C>G (p.Pro52Arg)
NM_000440.3(PDE6A):c.155C>T (p.Pro52Leu) rs774005137
NM_000440.3(PDE6A):c.1560A>C (p.Lys520Asn) rs772351110
NM_000440.3(PDE6A):c.1561del (p.Cys521fs) rs2113586514
NM_000440.3(PDE6A):c.1569A>G (p.Ile523Met) rs2113586489
NM_000440.3(PDE6A):c.1571A>C (p.Gln524Pro) rs2113586479
NM_000440.3(PDE6A):c.1575G>A (p.Met525Ile)
NM_000440.3(PDE6A):c.1588A>G (p.Lys530Glu)
NM_000440.3(PDE6A):c.1593G>T (p.Val531=)
NM_000440.3(PDE6A):c.159C>A (p.Ser53Arg) rs762456548
NM_000440.3(PDE6A):c.1600A>T (p.Lys534Ter)
NM_000440.3(PDE6A):c.1608C>T (p.His536=)
NM_000440.3(PDE6A):c.1610T>C (p.Ile537Thr) rs1581177868
NM_000440.3(PDE6A):c.1620+20A>G
NM_000440.3(PDE6A):c.1621-5C>T
NM_000440.3(PDE6A):c.1621-6T>C rs1239797536
NM_000440.3(PDE6A):c.1621-6T>G rs1239797536
NM_000440.3(PDE6A):c.1623C>T (p.Ala541=)
NM_000440.3(PDE6A):c.1628T>C (p.Val543Ala) rs1752697921
NM_000440.3(PDE6A):c.1630C>G (p.Arg544Gly) rs144484128
NM_000440.3(PDE6A):c.1631G>A (p.Arg544Gln)
NM_000440.3(PDE6A):c.1635C>T (p.Phe545=) rs2113582916
NM_000440.3(PDE6A):c.1637T>G (p.Met546Arg) rs758714143
NM_000440.3(PDE6A):c.163A>C (p.Met55Leu) rs1446146122
NM_000440.3(PDE6A):c.1646T>C (p.Leu549Pro) rs750763552
NM_000440.3(PDE6A):c.1647G>A (p.Leu549=) rs1016493624
NM_000440.3(PDE6A):c.1651A>G (p.Lys551Glu) rs1013117871
NM_000440.3(PDE6A):c.1651_1652insCATG (p.Lys551delinsThrTer) rs1295637847
NM_000440.3(PDE6A):c.1660C>T (p.Arg554Cys)
NM_000440.3(PDE6A):c.1664del (p.Lys555fs) rs2113582639
NM_000440.3(PDE6A):c.1671C>G (p.Thr557=) rs1334812851
NM_000440.3(PDE6A):c.1674C>T (p.Tyr558=) rs375659222
NM_000440.3(PDE6A):c.1688A>G (p.His563Arg) rs1752693727
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) rs776918069
NM_000440.3(PDE6A):c.1689C>T (p.His563=) rs776918069
NM_000440.3(PDE6A):c.1708A>G (p.Thr570Ala) rs1348047863
NM_000440.3(PDE6A):c.1712_1715delinsACGTGGGGCAGA (p.Met571fs) rs2113582262
NM_000440.3(PDE6A):c.1718C>A (p.Ser573Tyr)
NM_000440.3(PDE6A):c.1724T>C (p.Leu575Pro) rs759537984
NM_000440.3(PDE6A):c.1728+11G>A
NM_000440.3(PDE6A):c.1728+14G>A
NM_000440.3(PDE6A):c.1728+1G>A
NM_000440.3(PDE6A):c.1728+4T>C rs794727089
NM_000440.3(PDE6A):c.1728G>A (p.Val576=) rs2113582178
NM_000440.3(PDE6A):c.1729-6T>C
NM_000440.3(PDE6A):c.173G>A (p.Ser58Asn) rs769487994
NM_000440.3(PDE6A):c.1740G>A (p.Leu580=)
NM_000440.3(PDE6A):c.1747T>A (p.Tyr583Asn) rs1752305008
NM_000440.3(PDE6A):c.1747_1752del (p.Tyr583_Phe584del) rs753002443
NM_000440.3(PDE6A):c.1748A>G (p.Tyr583Cys) rs770071916
NM_000440.3(PDE6A):c.174C>A (p.Ser58Arg) rs776749815
NM_000440.3(PDE6A):c.1752C>T (p.Phe584=)
NM_000440.3(PDE6A):c.1754_1755delinsTT (p.Thr585Ile) rs1752304250
NM_000440.3(PDE6A):c.1758C>T (p.Asp586=)
NM_000440.3(PDE6A):c.1759C>T (p.Leu587=)
NM_000440.3(PDE6A):c.1776G>A (p.Met592Ile) rs1752302695
NM_000440.3(PDE6A):c.1803T>G (p.Ile601Met) rs767744053
NM_000440.3(PDE6A):c.1815C>G (p.Gly605=)
NM_000440.3(PDE6A):c.1816A>T (p.Thr606Ser)
NM_000440.3(PDE6A):c.1826T>C (p.Leu609Pro)
NM_000440.3(PDE6A):c.1830C>T (p.Tyr610=)
NM_000440.3(PDE6A):c.1838+11C>T rs781724083
NM_000440.3(PDE6A):c.1838+14C>T
NM_000440.3(PDE6A):c.1838+15C>T
NM_000440.3(PDE6A):c.1843C>T (p.Gln615Ter) rs1752223896
NM_000440.3(PDE6A):c.1855G>C (p.Ala619Pro) rs1752223184
NM_000440.3(PDE6A):c.1857C>T (p.Ala619=)
NM_000440.3(PDE6A):c.1863C>T (p.Leu621=)
NM_000440.3(PDE6A):c.1866T>G (p.His622Gln)
NM_000440.3(PDE6A):c.1867G>T (p.Gly623Trp)
NM_000440.3(PDE6A):c.1872C>G (p.Ser624=)
NM_000440.3(PDE6A):c.1874C>G (p.Ser625Cys)
NM_000440.3(PDE6A):c.187G>T (p.Asp63Tyr) rs1754413040
NM_000440.3(PDE6A):c.1897G>C (p.Glu633Gln)
NM_000440.3(PDE6A):c.1905C>T (p.Gly635=)
NM_000440.3(PDE6A):c.1920A>G (p.Arg640=)
NM_000440.3(PDE6A):c.1923C>G (p.Asp641Glu) rs758696476
NM_000440.3(PDE6A):c.1923C>T (p.Asp641=)
NM_000440.3(PDE6A):c.1926+19del
NM_000440.3(PDE6A):c.1926+1G>A rs794727139
NM_000440.3(PDE6A):c.1927-13T>C
NM_000440.3(PDE6A):c.1927-1G>T rs1761074706
NM_000440.3(PDE6A):c.1927-8T>C rs770392110
NM_000440.3(PDE6A):c.192_202del (p.Leu65fs)
NM_000440.3(PDE6A):c.1937del (p.Ile646fs)
NM_000440.3(PDE6A):c.1941T>C (p.Phe647=) rs1011297014
NM_000440.3(PDE6A):c.1942C>G (p.Gln648Glu) rs1761073879
NM_000440.3(PDE6A):c.1952A>T (p.Asn651Ile) rs149380104
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs) rs773065850
NM_000440.3(PDE6A):c.1959A>G (p.Arg653=)
NM_000440.3(PDE6A):c.1965T>C (p.His655=) rs753303277
NM_000440.3(PDE6A):c.1965T>G (p.His655Gln) rs753303277
NM_000440.3(PDE6A):c.1966G>C (p.Glu656Gln) rs199871385
NM_000440.3(PDE6A):c.1966G>T (p.Glu656Ter) rs199871385
NM_000440.3(PDE6A):c.1978C>T (p.His660Tyr) rs1445758846
NM_000440.3(PDE6A):c.1981A>T (p.Met661Leu) rs146354942
NM_000440.3(PDE6A):c.1982T>C (p.Met661Thr) rs1761070320
NM_000440.3(PDE6A):c.1989dup (p.Ile664fs) rs2113553528
NM_000440.3(PDE6A):c.1992T>A (p.Ile664=)
NM_000440.3(PDE6A):c.1997T>C (p.Ile666Thr) rs1472501176
NM_000440.3(PDE6A):c.199G>A (p.Asp67Asn) rs139198490
NM_000440.3(PDE6A):c.1A>G (p.Met1Val) rs976670244
NM_000440.3(PDE6A):c.2027+16C>T
NM_000440.3(PDE6A):c.2027+5G>A rs794727166
NM_000440.3(PDE6A):c.2027+7A>G rs2113553314
NM_000440.3(PDE6A):c.2027+9A>G
NM_000440.3(PDE6A):c.2028-10T>C
NM_000440.3(PDE6A):c.2028-10T>G rs766797276
NM_000440.3(PDE6A):c.2028-15T>C
NM_000440.3(PDE6A):c.2028-18G>A
NM_000440.3(PDE6A):c.2028-5del rs2113549585
NM_000440.3(PDE6A):c.2036C>G (p.Thr679Arg) rs147017310
NM_000440.3(PDE6A):c.2036C>T (p.Thr679Met) rs147017310
NM_000440.3(PDE6A):c.2036del (p.Thr679fs) rs2113549546
NM_000440.3(PDE6A):c.2046A>G (p.Gln682=)
NM_000440.3(PDE6A):c.2048A>C (p.Lys683Thr)
NM_000440.3(PDE6A):c.2056G>T (p.Asp686Tyr) rs1446834745
NM_000440.3(PDE6A):c.2071T>C (p.Tyr691His)
NM_000440.3(PDE6A):c.2083C>T (p.Gln695Ter) rs1161389116
NM_000440.3(PDE6A):c.2105T>C (p.Met702Thr)
NM_000440.3(PDE6A):c.2118del (p.Arg707fs) rs1761006182
NM_000440.3(PDE6A):c.2120G>A (p.Arg707Gln)
NM_000440.3(PDE6A):c.2127A>G (p.Glu709=)
NM_000440.3(PDE6A):c.2135+16G>C
NM_000440.3(PDE6A):c.2135+1G>T rs561600163
NM_000440.3(PDE6A):c.2135+5G>A rs2113549054
NM_000440.3(PDE6A):c.2136-3_2139del
NM_000440.3(PDE6A):c.2151C>T (p.Thr717=) rs756926282
NM_000440.3(PDE6A):c.2177A>T (p.Lys726Ile) rs1189428579
NM_000440.3(PDE6A):c.2181C>G (p.Pro727=) rs1760399009
NM_000440.3(PDE6A):c.218A>G (p.Gln73Arg)
NM_000440.3(PDE6A):c.2199+13G>A
NM_000440.3(PDE6A):c.2199+18C>T
NM_000440.3(PDE6A):c.2199+20C>G
NM_000440.3(PDE6A):c.2200-7G>T rs745449071
NM_000440.3(PDE6A):c.2206dup (p.Leu736fs)
NM_000440.3(PDE6A):c.221_224del (p.Thr74fs)
NM_000440.3(PDE6A):c.2223A>G (p.Glu741=)
NM_000440.3(PDE6A):c.2230G>A (p.Glu744Lys)
NM_000440.3(PDE6A):c.2239G>T (p.Asp747Tyr) rs993342286
NM_000440.3(PDE6A):c.2242C>T (p.Leu748=) rs963290822
NM_000440.3(PDE6A):c.2249G>C (p.Arg750Pro)
NM_000440.3(PDE6A):c.225G>A (p.Glu75=) rs887244543
NM_000440.3(PDE6A):c.2263C>T (p.Gln755Ter) rs2113507459
NM_000440.3(PDE6A):c.2269C>T (p.Pro757Ser)
NM_000440.3(PDE6A):c.2274+15G>T
NM_000440.3(PDE6A):c.2274+5G>A
NM_000440.3(PDE6A):c.2274+5G>C rs1760382600
NM_000440.3(PDE6A):c.2275-18_2275-17del
NM_000440.3(PDE6A):c.2275-5G>A rs2113503573
NM_000440.3(PDE6A):c.2296G>A (p.Ala766Thr)
NM_000440.3(PDE6A):c.2297C>G (p.Ala766Gly) rs752929833
NM_000440.3(PDE6A):c.2306del (p.Leu769fs) rs2113503448
NM_000440.3(PDE6A):c.2316_2317delinsAT (p.Gln773Ter) rs2113503389
NM_000440.3(PDE6A):c.231C>T (p.Cys77=)
NM_000440.3(PDE6A):c.2321T>G (p.Val774Gly) rs1760326181
NM_000440.3(PDE6A):c.2322C>T (p.Val774=) rs766767235
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.2338G>A (p.Val780Ile)
NM_000440.3(PDE6A):c.2346dup (p.Phe783fs) rs2113503234
NM_000440.3(PDE6A):c.2358+12G>C
NM_000440.3(PDE6A):c.2358+13C>T
NM_000440.3(PDE6A):c.2358+1G>A
NM_000440.3(PDE6A):c.2358+3A>G
NM_000440.3(PDE6A):c.2359-19C>A
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000440.3(PDE6A):c.2388C>A (p.Thr796=) rs2113495116
NM_000440.3(PDE6A):c.2388C>T (p.Thr796=) rs2113495116
NM_000440.3(PDE6A):c.2401G>A (p.Gly801Arg)
NM_000440.3(PDE6A):c.2404A>T (p.Ile802Phe) rs1760206848
NM_000440.3(PDE6A):c.2407A>C (p.Thr803Pro) rs764575487
NM_000440.3(PDE6A):c.2407A>G (p.Thr803Ala)
NM_000440.3(PDE6A):c.2412C>A (p.Asn804Lys) rs1028395619
NM_000440.3(PDE6A):c.2412C>T (p.Asn804=) rs1028395619
NM_000440.3(PDE6A):c.2417G>A (p.Arg806His) rs145718445
NM_000440.3(PDE6A):c.2430G>A (p.Lys810=) rs2113494891
NM_000440.3(PDE6A):c.243C>G (p.Val81=)
NM_000440.3(PDE6A):c.2473G>T (p.Glu825Ter)
NM_000440.3(PDE6A):c.2476AAG[1] (p.Lys827del) rs533737981
NM_000440.3(PDE6A):c.2478G>T (p.Lys826Asn)
NM_000440.3(PDE6A):c.2493G>C (p.Gln831His) rs1760201855
NM_000440.3(PDE6A):c.2494_2506del (p.Ser832fs) rs1760201109
NM_000440.3(PDE6A):c.2496G>A (p.Ser832=)
NM_000440.3(PDE6A):c.24G>A (p.Glu8=)
NM_000440.3(PDE6A):c.2506+12G>A rs201462717
NM_000440.3(PDE6A):c.2506+12G>T rs201462717
NM_000440.3(PDE6A):c.2506+7G>A rs1382186195
NM_000440.3(PDE6A):c.2506G>C (p.Ala836Pro) rs2113494553
NM_000440.3(PDE6A):c.2507-15C>T
NM_000440.3(PDE6A):c.2507-1G>T
NM_000440.3(PDE6A):c.2511C>T (p.Ala837=)
NM_000440.3(PDE6A):c.2512G>A (p.Ala838Thr) rs778365507
NM_000440.3(PDE6A):c.2512G>T (p.Ala838Ser)
NM_000440.3(PDE6A):c.251A>G (p.Lys84Arg) rs771965437
NM_000440.3(PDE6A):c.2524C>T (p.Pro842Ser)
NM_000440.3(PDE6A):c.2526G>C (p.Pro842=) rs376909494
NM_000440.3(PDE6A):c.2531del (p.Gly844fs) rs769569931
NM_000440.3(PDE6A):c.2531dup (p.Asn845fs)
NM_000440.3(PDE6A):c.2533A>G (p.Asn845Asp)
NM_000440.3(PDE6A):c.253C>T (p.Leu85=)
NM_000440.3(PDE6A):c.2562C>T (p.Ser854=) rs2113488146
NM_000440.3(PDE6A):c.2575A>T (p.Ile859Phe)
NM_000440.3(PDE6A):c.270G>T (p.Gln90His)
NM_000440.3(PDE6A):c.273A>G (p.Ala91=) rs2113673450
NM_000440.3(PDE6A):c.278G>A (p.Arg93His) rs780279555
NM_000440.3(PDE6A):c.278G>T (p.Arg93Leu) rs780279555
NM_000440.3(PDE6A):c.285C>A (p.Ser95Arg)
NM_000440.3(PDE6A):c.285C>G (p.Ser95Arg) rs765008436
NM_000440.3(PDE6A):c.286del (p.Leu96fs) rs1270005492
NM_000440.3(PDE6A):c.287T>A (p.Leu96Gln) rs2113673388
NM_000440.3(PDE6A):c.291del (p.Phe97fs) rs2113673375
NM_000440.3(PDE6A):c.299G>T (p.Arg100Leu) rs199738915
NM_000440.3(PDE6A):c.303C>T (p.Thr101=)
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.304C>T (p.Arg102Cys) rs141252097
NM_000440.3(PDE6A):c.321G>C (p.Glu107Asp)
NM_000440.3(PDE6A):c.331_332delinsCA (p.Arg111Gln)
NM_000440.3(PDE6A):c.345C>T (p.Val115=) rs1194504213
NM_000440.3(PDE6A):c.351G>C (p.Lys117Asn)
NM_000440.3(PDE6A):c.363C>A (p.Leu121=)
NM_000440.3(PDE6A):c.36C>T (p.Phe12=)
NM_000440.3(PDE6A):c.375G>A (p.Leu125=) rs2113673212
NM_000440.3(PDE6A):c.385G>A (p.Asp129Asn) rs577079672
NM_000440.3(PDE6A):c.396C>T (p.Ile132=)
NM_000440.3(PDE6A):c.406T>A (p.Leu136Met) rs375500044
NM_000440.3(PDE6A):c.406T>C (p.Leu136=) rs375500044
NM_000440.3(PDE6A):c.416G>T (p.Gly139Val) rs1754404616
NM_000440.3(PDE6A):c.428A>C (p.His143Pro)
NM_000440.3(PDE6A):c.429T>C (p.His143=) rs2113673098
NM_000440.3(PDE6A):c.432C>T (p.Val144=)
NM_000440.3(PDE6A):c.460C>T (p.Pro154Ser) rs1448494474
NM_000440.3(PDE6A):c.474+14C>T
NM_000440.3(PDE6A):c.474+3A>T rs2113673014
NM_000440.3(PDE6A):c.474+8C>T
NM_000440.3(PDE6A):c.475-16C>A
NM_000440.3(PDE6A):c.475-18A>G
NM_000440.3(PDE6A):c.475-1G>T rs1754135016
NM_000440.3(PDE6A):c.475-6C>T
NM_000440.3(PDE6A):c.488G>T (p.Cys163Phe) rs1248213325
NM_000440.3(PDE6A):c.499G>A (p.Asp167Asn) rs547693426
NM_000440.3(PDE6A):c.531C>G (p.Ile177Met)
NM_000440.3(PDE6A):c.570C>G (p.Ala190=) rs1754132339
NM_000440.3(PDE6A):c.586A>G (p.Asn196Asp)
NM_000440.3(PDE6A):c.587A>G (p.Asn196Ser)
NM_000440.3(PDE6A):c.59C>G (p.Ala20Gly) rs1488546964
NM_000440.3(PDE6A):c.604_609dup (p.His202_Phe203dup) rs1754131396
NM_000440.3(PDE6A):c.627+5G>A rs767879585
NM_000440.3(PDE6A):c.671T>C (p.Val224Ala)
NM_000440.3(PDE6A):c.672G>A (p.Val224=)
NM_000440.3(PDE6A):c.676del (p.His226fs)
NM_000440.3(PDE6A):c.699T>C (p.Cys233=)
NM_000440.3(PDE6A):c.715C>T (p.Gln239Ter)
NM_000440.3(PDE6A):c.717+12G>A rs917365083
NM_000440.3(PDE6A):c.717+14G>A
NM_000440.3(PDE6A):c.717+20G>A rs780162381
NM_000440.3(PDE6A):c.717+20G>T
NM_000440.3(PDE6A):c.718-9dup rs575263004
NM_000440.3(PDE6A):c.722T>G (p.Leu241Arg) rs2113656507
NM_000440.3(PDE6A):c.726G>A (p.Leu242=)
NM_000440.3(PDE6A):c.731C>T (p.Ser244Phe) rs2113656491
NM_000440.3(PDE6A):c.735G>T (p.Gly245=) rs1205889575
NM_000440.3(PDE6A):c.742G>A (p.Val248Ile) rs982107290
NM_000440.3(PDE6A):c.743T>A (p.Val248Asp) rs1581209421
NM_000440.3(PDE6A):c.756T>C (p.Leu252=)
NM_000440.3(PDE6A):c.758C>A (p.Thr253Lys) rs778857421
NM_000440.3(PDE6A):c.759G>C (p.Thr253=) rs879171832
NM_000440.3(PDE6A):c.75C>T (p.Asn25=)
NM_000440.3(PDE6A):c.760_762del (p.Asp254del) rs1754022672
NM_000440.3(PDE6A):c.778C>T (p.His260Tyr)
NM_000440.3(PDE6A):c.783A>T (p.Lys261Asn)
NM_000440.3(PDE6A):c.789G>A (p.Leu263=)
NM_000440.3(PDE6A):c.78C>T (p.Leu26=)
NM_000440.3(PDE6A):c.794C>G (p.Thr265Arg) rs1754021307
NM_000440.3(PDE6A):c.809T>C (p.Leu270Pro)
NM_000440.3(PDE6A):c.814_819delinsACAGTCCGTCTA (p.Cys272_Asp273delinsThrValArgLeu)
NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter) rs1754021035
NM_000440.3(PDE6A):c.81C>A (p.His27Gln) rs1212652682
NM_000440.3(PDE6A):c.820A>G (p.Arg274Gly) rs942365236
NM_000440.3(PDE6A):c.823_824del (p.Tyr275fs)
NM_000440.3(PDE6A):c.832G>T (p.Gly278Cys) rs2113656282
NM_000440.3(PDE6A):c.833G>A (p.Gly278Asp) rs1754020094
NM_000440.3(PDE6A):c.839T>C (p.Leu280Ser) rs1402912127
NM_000440.3(PDE6A):c.84C>G (p.Tyr28Ter)
NM_000440.3(PDE6A):c.852G>C (p.Lys284Asn) rs1754019076
NM_000440.3(PDE6A):c.854A>G (p.Gln285Arg)
NM_000440.3(PDE6A):c.858+5G>T rs1754018441
NM_000440.3(PDE6A):c.859-4C>T
NM_000440.3(PDE6A):c.859-8A>C
NM_000440.3(PDE6A):c.861A>G (p.Glu287=)
NM_000440.3(PDE6A):c.86G>A (p.Arg29Gln) rs201008270
NM_000440.3(PDE6A):c.86G>C (p.Arg29Pro) rs201008270
NM_000440.3(PDE6A):c.871G>A (p.Val291Met)
NM_000440.3(PDE6A):c.88G>A (p.Ala30Thr)
NM_000440.3(PDE6A):c.890G>A (p.Gly297Asp) rs1753726210
NM_000440.3(PDE6A):c.891T>C (p.Gly297=)
NM_000440.3(PDE6A):c.906C>T (p.Tyr302=) rs2113640830
NM_000440.3(PDE6A):c.910G>T (p.Gly304Cys) rs769712698
NM_000440.3(PDE6A):c.915C>G (p.Pro305=)
NM_000440.3(PDE6A):c.915C>T (p.Pro305=) rs1285233372
NM_000440.3(PDE6A):c.922C>A (p.Pro308Thr) rs2113640773
NM_000440.3(PDE6A):c.924G>A (p.Pro308=)
NM_000440.3(PDE6A):c.924G>C (p.Pro308=) rs369194532
NM_000440.3(PDE6A):c.927T>G (p.Asp309Glu)
NM_000440.3(PDE6A):c.929_933+14del rs2113640690
NM_000440.3(PDE6A):c.933+10C>T
NM_000440.3(PDE6A):c.933+5G>A
NM_000440.3(PDE6A):c.934-12C>T
NM_000440.3(PDE6A):c.934-13T>C
NM_000440.3(PDE6A):c.934-14CT[2] rs1753507180
NM_000440.3(PDE6A):c.934-28_934-26del rs60750624
NM_000440.3(PDE6A):c.934-47_934-46insTT rs2113628860
NM_000440.3(PDE6A):c.934-5G>A
NM_000440.3(PDE6A):c.936A>T (p.Glu312Asp) rs2113628643
NM_000440.3(PDE6A):c.942C>G (p.Asn314Lys) rs1753506772
NM_000440.3(PDE6A):c.948C>G (p.Tyr316Ter)
NM_000440.3(PDE6A):c.951G>T (p.Lys317Asn) rs1243383426
NM_000440.3(PDE6A):c.958G>A (p.Asp320Asn)
NM_000440.3(PDE6A):c.979G>A (p.Glu327Lys)
NM_000440.3(PDE6A):c.982G>A (p.Asp328Asn)
NM_000440.3(PDE6A):c.996C>T (p.Ile332=)
NM_000440.3(PDE6A):c.998+2T>G rs1753505068
NM_000440.3(PDE6A):c.999-15_999-12del rs2113616352
NM_000440.3(PDE6A):c.999-2A>G rs1753232409

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.