ClinVar Miner

List of variants in gene PDE6B studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 968
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.1615-221A>G rs4690287 0.99959
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile) rs10902758 0.99926
NM_000283.4(PDE6B):c.1401+86T>A rs28742266 0.31333
NM_000283.4(PDE6B):c.2268+253G>A rs28583078 0.21742
NM_000283.4(PDE6B):c.1059+81C>T rs28630797 0.20703
NM_000283.4(PDE6B):c.2503+136C>T rs28568555 0.20699
NM_000283.4(PDE6B):c.1832+197G>T rs28586910 0.19913
NM_000283.4(PDE6B):c.2129+294G>T rs3891250 0.19490
NM_000283.4(PDE6B):c.1614+243A>G rs13119162 0.19421
NM_000283.4(PDE6B):c.469-291T>G rs28754797 0.18506
NM_000283.4(PDE6B):c.993-90C>A rs28742899 0.17300
NM_000283.4(PDE6B):c.2503+160G>A rs28483373 0.17169
NM_000283.4(PDE6B):c.1921-193A>G rs9985747 0.16187
NM_000283.4(PDE6B):c.1615-42C>G rs73058406 0.11552
NM_000283.4(PDE6B):c.712-138G>C rs28569875 0.11179
NM_000283.4(PDE6B):c.621+75C>T rs72613106 0.10898
NM_000283.4(PDE6B):c.1401+396C>T rs113260926 0.08770
NM_000283.4(PDE6B):c.2022-45del rs35199616 0.06332
NM_000283.4(PDE6B):c.993-132G>C rs28535694 0.06139
NM_000283.4(PDE6B):c.915G>A (p.Thr305=) rs75695239 0.05186
NM_000283.4(PDE6B):c.1467+20C>T rs74464382 0.05011
NM_000283.4(PDE6B):c.712-39G>A rs28514424 0.03763
NM_000283.4(PDE6B):c.1108-205G>A rs35621580 0.03573
NM_000283.4(PDE6B):c.*20C>A rs61760239 0.03551
NM_000283.4(PDE6B):c.1467+77G>A rs10023609 0.03097
NM_000283.4(PDE6B):c.469-179C>T rs34391278 0.02959
NM_000283.4(PDE6B):c.*191C>A rs111449765 0.02743
NM_000283.4(PDE6B):c.468+113C>T rs9995112 0.02581
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln) rs113842820 0.02573
NM_000283.4(PDE6B):c.123G>A (p.Pro41=) rs113459274 0.02570
NC_000004.12:g.625470T>C rs75749799 0.02569
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala) rs28414606 0.02568
NM_000283.4(PDE6B):c.384C>T (p.Ser128=) rs28510278 0.02567
NM_000283.4(PDE6B):c.469-210C>T rs28615478 0.02559
NM_000283.4(PDE6B):c.1107+112G>T rs76455781 0.02539
NM_000283.4(PDE6B):c.1401+110A>G rs530816505 0.02455
NM_000283.4(PDE6B):c.2504-205G>C rs35925646 0.02197
NM_000283.4(PDE6B):c.1467+41C>T rs116283697 0.02034
NM_000283.4(PDE6B):c.621+194G>A rs1212960611 0.01359
NM_000283.4(PDE6B):c.2526C>T (p.Gly842=) rs61733857 0.01240
NM_000283.4(PDE6B):c.2289G>A (p.Lys763=) rs61739716 0.01153
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=) rs35792756 0.01026
NM_000283.4(PDE6B):c.2505A>G (p.Val835=) rs61734864 0.00938
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys) rs115775983 0.00911
NM_000283.4(PDE6B):c.928-175G>A rs116353162 0.00847
NM_000283.4(PDE6B):c.873T>C (p.Ser291=) rs142597807 0.00827
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_000283.4(PDE6B):c.1467+18G>A rs140243735 0.00555
NM_000283.4(PDE6B):c.26G>A (p.Arg9Gln) rs76755568 0.00548
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_000283.4(PDE6B):c.1635C>T (p.Phe545=) rs141813304 0.00436
NM_000283.4(PDE6B):c.101C>T (p.Ala34Val) rs148829093 0.00434
NM_000283.4(PDE6B):c.1059+9C>G rs112918073 0.00427
NM_000283.4(PDE6B):c.270C>T (p.Asp90=) rs80344633 0.00422
NM_000283.4(PDE6B):c.2194-13C>A rs147952407 0.00395
NM_000283.4(PDE6B):c.1108-9C>T rs200970775 0.00373
NM_000283.4(PDE6B):c.1060-13G>A rs147482093 0.00365
NM_000283.4(PDE6B):c.852+11C>T rs148464123 0.00312
NM_000283.4(PDE6B):c.711+11G>A rs111340191 0.00257
NM_000283.4(PDE6B):c.343C>G (p.Pro115Ala) rs147382017 0.00240
NM_000283.4(PDE6B):c.711+10C>T rs201100689 0.00237
NM_000283.4(PDE6B):c.2371G>A (p.Glu791Lys) rs74411086 0.00198
NM_000283.4(PDE6B):c.1194C>T (p.Val398=) rs116784895 0.00091
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_000283.4(PDE6B):c.1625G>A (p.Arg542Gln) rs190470432 0.00087
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu) rs150000610 0.00078
NM_000283.4(PDE6B):c.1401+4C>T rs113246945 0.00077
NM_000283.4(PDE6B):c.1083C>T (p.Ser361=) rs142802752 0.00073
NM_000283.4(PDE6B):c.852+12G>A rs201676629 0.00070
NM_000283.4(PDE6B):c.1401+16A>T rs202051878 0.00068
NM_000283.4(PDE6B):c.1722+5G>A rs73058408 0.00067
NM_000283.4(PDE6B):c.1218C>T (p.Asp406=) rs148190219 0.00061
NM_000283.4(PDE6B):c.2193+15C>T rs376883350 0.00061
NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu) rs138682290 0.00056
NM_000283.4(PDE6B):c.706G>A (p.Gly236Ser) rs75543439 0.00051
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=) rs114100439 0.00048
NM_000283.4(PDE6B):c.804C>T (p.Leu268=) rs147372374 0.00047
NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys) rs144590560 0.00046
NM_000283.4(PDE6B):c.267C>T (p.Ala89=) rs147181781 0.00046
NM_000283.4(PDE6B):c.993-18C>T rs374725416 0.00046
NM_000283.4(PDE6B):c.651G>A (p.Thr217=) rs200664252 0.00041
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00041
NM_000283.4(PDE6B):c.25C>T (p.Arg9Trp) rs140441389 0.00037
NM_000283.4(PDE6B):c.2129+16G>A rs202218348 0.00034
NM_000283.4(PDE6B):c.2352+3G>A rs111504036 0.00033
NM_000283.4(PDE6B):c.1257+19G>A rs376175923 0.00032
NM_000283.4(PDE6B):c.1401+5G>A rs201623488 0.00032
NM_000283.4(PDE6B):c.966C>T (p.His322=) rs143711050 0.00032
NM_000283.4(PDE6B):c.2504-1G>C rs201870319 0.00029
NM_000283.4(PDE6B):c.292C>T (p.Arg98Cys) rs374578601 0.00024
NM_000283.4(PDE6B):c.1253T>C (p.Met418Thr) rs201691661 0.00022
NM_000283.4(PDE6B):c.1860del (p.His620fs) rs769671323 0.00021
NM_000283.4(PDE6B):c.2151C>T (p.Cys717=) rs201063091 0.00021
NM_000283.4(PDE6B):c.1833-17C>T rs773721837 0.00020
NM_000283.4(PDE6B):c.1614+19C>T rs553760477 0.00019
NM_000283.4(PDE6B):c.1805G>A (p.Arg602His) rs752846577 0.00019
NM_000283.4(PDE6B):c.1108-10G>A rs374534089 0.00018
NM_000283.4(PDE6B):c.1412C>T (p.Ala471Val) rs182071364 0.00018
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala) rs141647790 0.00018
NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys) rs143908642 0.00016
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met) rs149359860 0.00016
NM_000283.4(PDE6B):c.1942C>T (p.Leu648=) rs369528678 0.00016
NM_000283.4(PDE6B):c.423C>T (p.His141=) rs148575945 0.00016
NM_000283.4(PDE6B):c.48C>T (p.Pro16=) rs147759031 0.00016
NM_000283.4(PDE6B):c.1920+4G>A rs370313003 0.00015
NM_000283.4(PDE6B):c.1158G>A (p.Met386Ile) rs138037719 0.00014
NM_000283.4(PDE6B):c.1722+4C>T rs200389206 0.00014
NM_000283.4(PDE6B):c.1089C>T (p.Asp363=) rs150360174 0.00013
NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn) rs138423108 0.00013
NM_000283.4(PDE6B):c.2099C>T (p.Ser700Phe) rs752794968 0.00012
NM_000283.4(PDE6B):c.1540del (p.Leu514fs) rs398123298 0.00011
NM_000283.4(PDE6B):c.2293G>C (p.Ala765Pro) rs199521106 0.00011
NM_000283.4(PDE6B):c.1553A>T (p.Lys518Ile) rs369561957 0.00010
NM_000283.4(PDE6B):c.1923C>T (p.Thr641=) rs1162577076 0.00010
NM_000283.4(PDE6B):c.2352+14G>A rs752968664 0.00010
NM_000283.4(PDE6B):c.2363G>A (p.Arg788His) rs777999727 0.00010
NM_000283.4(PDE6B):c.1059+10G>A rs377101351 0.00009
NM_000283.4(PDE6B):c.126G>A (p.Pro42=) rs533513647 0.00009
NM_000283.4(PDE6B):c.1468-18C>G rs185263445 0.00009
NM_000283.4(PDE6B):c.2193+5G>A rs576895229 0.00009
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823 0.00009
NM_000283.4(PDE6B):c.726G>A (p.Ser242=) rs200975847 0.00009
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser) rs140224236 0.00009
NM_000283.4(PDE6B):c.1257+18C>T rs548482275 0.00008
NM_000283.4(PDE6B):c.2268+20C>A rs201982527 0.00008
NM_000283.4(PDE6B):c.2269-11C>T rs370169775 0.00008
NM_000283.4(PDE6B):c.2292G>A (p.Ala764=) rs758923888 0.00008
NM_000283.4(PDE6B):c.231C>T (p.Phe77=) rs774936202 0.00008
NM_000283.4(PDE6B):c.272G>A (p.Arg91His) rs142736367 0.00008
NM_000283.4(PDE6B):c.468+13G>A rs376870992 0.00008
NM_000283.4(PDE6B):c.472C>T (p.Pro158Ser) rs779281806 0.00008
NM_000283.4(PDE6B):c.564G>A (p.Ala188=) rs570324313 0.00008
NM_000283.4(PDE6B):c.700C>T (p.Arg234Cys) rs374915809 0.00008
NM_000283.4(PDE6B):c.1219G>A (p.Gly407Arg) rs60635284 0.00007
NM_000283.4(PDE6B):c.1258-10T>A rs727504074 0.00007
NM_000283.4(PDE6B):c.306C>T (p.Gly102=) rs201939549 0.00007
NM_000283.4(PDE6B):c.352G>A (p.Val118Ile) rs201253138 0.00007
NM_000283.4(PDE6B):c.459C>T (p.Asp153=) rs753452282 0.00007
NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala) rs761281062 0.00007
NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln) rs145756948 0.00007
NM_000283.4(PDE6B):c.1108-11C>T rs556100573 0.00006
NM_000283.4(PDE6B):c.1165G>A (p.Val389Ile) rs149477100 0.00006
NM_000283.4(PDE6B):c.1420G>A (p.Gly474Arg) rs375032863 0.00006
NM_000283.4(PDE6B):c.142C>T (p.Arg48Trp) rs191195745 0.00006
NM_000283.4(PDE6B):c.1449C>T (p.Asp483=) rs202073030 0.00006
NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=) rs750323428 0.00006
NM_000283.4(PDE6B):c.1540C>T (p.Leu514=) rs780830241 0.00006
NM_000283.4(PDE6B):c.1653C>T (p.Tyr551=) rs780618229 0.00006
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00006
NM_000283.4(PDE6B):c.1868C>T (p.Ser623Leu) rs368095904 0.00006
NM_000283.4(PDE6B):c.1959C>T (p.His653=) rs141521651 0.00006
NM_000283.4(PDE6B):c.2098T>A (p.Ser700Thr) rs149880099 0.00006
NM_000283.4(PDE6B):c.2282G>A (p.Arg761Gln) rs144727865 0.00006
NM_000283.4(PDE6B):c.2396G>A (p.Arg799Gln) rs546425862 0.00006
NM_000283.4(PDE6B):c.339G>A (p.Val113=) rs377564095 0.00006
NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu) rs189172362 0.00006
NM_000283.4(PDE6B):c.55G>T (p.Ala19Ser) rs201287238 0.00006
NM_000283.4(PDE6B):c.591C>T (p.Asn197=) rs200600572 0.00006
NM_000283.4(PDE6B):c.59G>A (p.Arg20His) rs781251175 0.00006
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile) rs201584824 0.00006
NM_000283.4(PDE6B):c.699G>A (p.Thr233=) rs148264146 0.00006
NM_000283.4(PDE6B):c.760G>A (p.Glu254Lys) rs146204075 0.00006
NM_000283.4(PDE6B):c.780C>T (p.Ala260=) rs759132270 0.00006
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 0.00006
NM_000283.4(PDE6B):c.852+15G>A rs371254584 0.00006
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000283.4(PDE6B):c.927+17G>A rs758233787 0.00006
NM_000283.4(PDE6B):c.114C>T (p.Asp38=) rs371572108 0.00005
NM_000283.4(PDE6B):c.1383C>T (p.Asp461=) rs1006827106 0.00005
NM_000283.4(PDE6B):c.1415G>A (p.Arg472His) rs759164479 0.00005
NM_000283.4(PDE6B):c.1606C>T (p.Pro536Ser) rs568331063 0.00005
NM_000283.4(PDE6B):c.1933_1938del (p.Tyr645_Gln646del) rs748679882 0.00005
NM_000283.4(PDE6B):c.196A>G (p.Met66Val) rs964274841 0.00005
NM_000283.4(PDE6B):c.2061G>C (p.Lys687Asn) rs149423059 0.00005
NM_000283.4(PDE6B):c.221G>A (p.Arg74His) rs370187319 0.00005
NM_000283.4(PDE6B):c.2325C>T (p.Ile775=) rs373351939 0.00005
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) rs145124626 0.00005
NM_000283.4(PDE6B):c.592G>A (p.Gly198Ser) rs199690401 0.00005
NM_000283.4(PDE6B):c.753G>A (p.Thr251=) rs149524100 0.00005
NM_000283.4(PDE6B):c.102G>A (p.Ala34=) rs142437453 0.00004
NM_000283.4(PDE6B):c.1162A>G (p.Ile388Val) rs765481943 0.00004
NM_000283.4(PDE6B):c.1195G>A (p.Ala399Thr) rs532583140 0.00004
NM_000283.4(PDE6B):c.1531T>G (p.Cys511Gly) rs746510596 0.00004
NM_000283.4(PDE6B):c.165G>C (p.Glu55Asp) rs770318126 0.00004
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp) rs774268095 0.00004
NM_000283.4(PDE6B):c.1804C>T (p.Arg602Cys) rs754298498 0.00004
NM_000283.4(PDE6B):c.1861G>A (p.Gly621Ser) rs757161177 0.00004
NM_000283.4(PDE6B):c.193G>T (p.Asp65Tyr) rs377415525 0.00004
NM_000283.4(PDE6B):c.2038C>T (p.Gln680Ter) rs146171339 0.00004
NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp) rs200079698 0.00004
NM_000283.4(PDE6B):c.2129+8C>T rs764138476 0.00004
NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr) rs142936195 0.00004
NM_000283.4(PDE6B):c.2274G>C (p.Met758Ile) rs140857147 0.00004
NM_000283.4(PDE6B):c.2281C>T (p.Arg761Trp) rs756653121 0.00004
NM_000283.4(PDE6B):c.2527G>A (p.Gly843Ser) rs367709559 0.00004
NM_000283.4(PDE6B):c.271C>T (p.Arg91Cys) rs747747667 0.00004
NM_000283.4(PDE6B):c.304G>A (p.Gly102Ser) rs750237172 0.00004
NM_000283.4(PDE6B):c.307G>A (p.Val103Met) rs751477149 0.00004
NM_000283.4(PDE6B):c.345G>A (p.Pro115=) rs780426891 0.00004
NM_000283.4(PDE6B):c.379G>A (p.Asp127Asn) rs766141814 0.00004
NM_000283.4(PDE6B):c.391G>A (p.Val131Ile) rs145863444 0.00004
NM_000283.4(PDE6B):c.401T>C (p.Leu134Pro) rs758700964 0.00004
NM_000283.4(PDE6B):c.424G>A (p.Val142Met) rs370159647 0.00004
NM_000283.4(PDE6B):c.600C>T (p.Phe200=) rs777216738 0.00004
NM_000283.4(PDE6B):c.650C>T (p.Thr217Met) rs748586554 0.00004
NM_000283.4(PDE6B):c.698C>T (p.Thr233Met) rs752852029 0.00004
NM_000283.4(PDE6B):c.701G>A (p.Arg234His) rs369318359 0.00004
NM_000283.4(PDE6B):c.711+5C>G rs771400327 0.00004
NM_000283.4(PDE6B):c.789G>A (p.Thr263=) rs138789637 0.00004
NM_000283.4(PDE6B):c.919G>A (p.Asp307Asn) rs113666063 0.00004
NM_000283.4(PDE6B):c.93T>A (p.Asn31Lys) rs770449748 0.00004
NM_000283.4(PDE6B):c.1053C>T (p.Ser351=) rs768980060 0.00003
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp) rs199974771 0.00003
NM_000283.4(PDE6B):c.1341C>T (p.Ile447=) rs180768440 0.00003
NM_000283.4(PDE6B):c.1426G>A (p.Glu476Lys) rs746783836 0.00003
NM_000283.4(PDE6B):c.1467+17C>T rs771712859 0.00003
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr) rs121918581 0.00003
NM_000283.4(PDE6B):c.1713G>A (p.Thr571=) rs148025711 0.00003
NM_000283.4(PDE6B):c.1783C>T (p.Leu595=) rs775835569 0.00003
NM_000283.4(PDE6B):c.1913C>T (p.Ser638Leu) rs767873714 0.00003
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000283.4(PDE6B):c.1960G>A (p.Glu654Lys) rs766224891 0.00003
NM_000283.4(PDE6B):c.2021+13C>T rs758945481 0.00003
NM_000283.4(PDE6B):c.2079G>C (p.Lys693Asn) rs528393303 0.00003
NM_000283.4(PDE6B):c.2100C>T (p.Ser700=) rs756145629 0.00003
NM_000283.4(PDE6B):c.2129+7G>A rs761148108 0.00003
NM_000283.4(PDE6B):c.222C>T (p.Arg74=) rs148073084 0.00003
NM_000283.4(PDE6B):c.2254G>T (p.Asp752Tyr) rs200667817 0.00003
NM_000283.4(PDE6B):c.2392G>A (p.Asp798Asn) rs746471576 0.00003
NM_000283.4(PDE6B):c.2409T>C (p.Asn803=) rs200002559 0.00003
NM_000283.4(PDE6B):c.285C>T (p.Phe95=) rs746211772 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000283.4(PDE6B):c.387G>T (p.Glu129Asp) rs752303143 0.00003
NM_000283.4(PDE6B):c.414C>T (p.Val138=) rs748297420 0.00003
NM_000283.4(PDE6B):c.460G>A (p.Val154Met) rs756889736 0.00003
NM_000283.4(PDE6B):c.558C>T (p.Val186=) rs371920663 0.00003
NM_000283.4(PDE6B):c.58C>T (p.Arg20Cys) rs558368752 0.00003
NM_000283.4(PDE6B):c.704G>A (p.Arg235His) rs757918699 0.00003
NM_000283.4(PDE6B):c.769T>G (p.Phe257Val) rs766492141 0.00003
NM_000283.4(PDE6B):c.992C>T (p.Pro331Leu) rs146116505 0.00003
NM_000283.4(PDE6B):c.1027G>A (p.Gly343Ser) rs368173258 0.00002
NM_000283.4(PDE6B):c.1235A>T (p.Glu412Val) rs776905782 0.00002
NM_000283.4(PDE6B):c.1272C>G (p.Phe424Leu) rs202194404 0.00002
NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn) rs539768252 0.00002
NM_000283.4(PDE6B):c.1342G>A (p.Ala448Thr) rs779139841 0.00002
NM_000283.4(PDE6B):c.1366G>A (p.Val456Met) rs376028657 0.00002
NM_000283.4(PDE6B):c.1375G>A (p.Asp459Asn) rs368069770 0.00002
NM_000283.4(PDE6B):c.1401+8G>A rs531652183 0.00002
NM_000283.4(PDE6B):c.1417C>A (p.Leu473Met) rs1342420559 0.00002
NM_000283.4(PDE6B):c.1467+15C>A rs745384266 0.00002
NM_000283.4(PDE6B):c.1468-15C>T rs773508753 0.00002
NM_000283.4(PDE6B):c.1521T>C (p.Ser507=) rs1372632173 0.00002
NM_000283.4(PDE6B):c.1575C>T (p.Tyr525=) rs373724992 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.1591C>T (p.Arg531Ter) rs121918580 0.00002
NM_000283.4(PDE6B):c.1614+12C>T rs370003763 0.00002
NM_000283.4(PDE6B):c.1615-4C>A rs1273923720 0.00002
NM_000283.4(PDE6B):c.1654C>T (p.Arg552Trp) rs1201231261 0.00002
NM_000283.4(PDE6B):c.1655G>A (p.Arg552Gln) rs751859807 0.00002
NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met) rs369980987 0.00002
NM_000283.4(PDE6B):c.171G>A (p.Thr57=) rs763391072 0.00002
NM_000283.4(PDE6B):c.173C>T (p.Ala58Val) rs200898108 0.00002
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=) rs769147926 0.00002
NM_000283.4(PDE6B):c.1827G>A (p.Gln609=) rs748138553 0.00002
NM_000283.4(PDE6B):c.1832+16C>T rs1454338239 0.00002
NM_000283.4(PDE6B):c.1833-11C>T rs1001332582 0.00002
NM_000283.4(PDE6B):c.1879C>G (p.Arg627Gly) rs371911345 0.00002
NM_000283.4(PDE6B):c.1911C>A (p.Leu637=) rs369781800 0.00002
NM_000283.4(PDE6B):c.1921-5C>T rs780649581 0.00002
NM_000283.4(PDE6B):c.2075A>G (p.Lys692Arg) rs1305642045 0.00002
NM_000283.4(PDE6B):c.2089G>C (p.Glu697Gln) rs766706231 0.00002
NM_000283.4(PDE6B):c.208A>G (p.Ile70Val) rs757030384 0.00002
NM_000283.4(PDE6B):c.2138T>C (p.Met713Thr) rs371322951 0.00002
NM_000283.4(PDE6B):c.214A>G (p.Met72Val) rs745722843 0.00002
NM_000283.4(PDE6B):c.2194-16C>T rs561411676 0.00002
NM_000283.4(PDE6B):c.2206G>A (p.Val736Met) rs779518964 0.00002
NM_000283.4(PDE6B):c.223G>A (p.Val75Met) rs376238566 0.00002
NM_000283.4(PDE6B):c.2269-14G>T rs769796615 0.00002
NM_000283.4(PDE6B):c.2287A>G (p.Lys763Glu) rs757656130 0.00002
NM_000283.4(PDE6B):c.2332G>A (p.Val778Met) rs775321796 0.00002
NM_000283.4(PDE6B):c.2352+13C>T rs374527841 0.00002
NM_000283.4(PDE6B):c.2352+2C>T rs751661904 0.00002
NM_000283.4(PDE6B):c.2361T>C (p.Ser787=) rs756300513 0.00002
NM_000283.4(PDE6B):c.2387T>C (p.Met796Thr) rs745856717 0.00002
NM_000283.4(PDE6B):c.2401C>T (p.Gln801Ter) rs559964930 0.00002
NM_000283.4(PDE6B):c.242G>A (p.Arg81Gln) rs370894310 0.00002
NM_000283.4(PDE6B):c.2476G>A (p.Glu826Lys) rs368110918 0.00002
NM_000283.4(PDE6B):c.251G>A (p.Cys84Tyr) rs750393714 0.00002
NM_000283.4(PDE6B):c.297G>A (p.Gln99=) rs768652560 0.00002
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys) rs398123299 0.00002
NM_000283.4(PDE6B):c.316C>T (p.Leu106=) rs752429712 0.00002
NM_000283.4(PDE6B):c.375C>T (p.Pro125=) rs776796063 0.00002
NM_000283.4(PDE6B):c.441G>C (p.Lys147Asn) rs374446899 0.00002
NM_000283.4(PDE6B):c.450C>T (p.Asn150=) rs144512155 0.00002
NM_000283.4(PDE6B):c.468+12C>T rs781668266 0.00002
NM_000283.4(PDE6B):c.469-5G>A rs530695084 0.00002
NM_000283.4(PDE6B):c.491C>T (p.Ala164Val) rs746748194 0.00002
NM_000283.4(PDE6B):c.670C>G (p.His224Asp) rs899890736 0.00002
NM_000283.4(PDE6B):c.694G>A (p.Glu232Lys) rs201593198 0.00002
NM_000283.4(PDE6B):c.703C>T (p.Arg235Cys) rs749955507 0.00002
NM_000283.4(PDE6B):c.711+6C>G rs759541024 0.00002
NM_000283.4(PDE6B):c.712-13C>A rs1383604116 0.00002
NM_000283.4(PDE6B):c.712-14G>C rs1046476636 0.00002
NM_000283.4(PDE6B):c.788C>T (p.Thr263Met) rs755828989 0.00002
NM_000283.4(PDE6B):c.814C>T (p.Arg272Trp) rs150497650 0.00002
NM_000283.4(PDE6B):c.928-9G>C rs776124623 0.00002
NM_000283.4(PDE6B):c.992+1G>A rs898144119 0.00002
NM_000283.4(PDE6B):c.993-8G>T rs775708541 0.00002
NM_000283.4(PDE6B):c.1049A>C (p.Glu350Ala) rs201953373 0.00001
NM_000283.4(PDE6B):c.1054G>A (p.Gly352Ser) rs781265218 0.00001
NM_000283.4(PDE6B):c.1059+14T>C rs775861441 0.00001
NM_000283.4(PDE6B):c.109G>A (p.Glu37Lys) rs376908835 0.00001
NM_000283.4(PDE6B):c.1107+8T>G rs778929443 0.00001
NM_000283.4(PDE6B):c.1108-19C>G rs1400430773 0.00001
NM_000283.4(PDE6B):c.1108-4G>A rs560147292 0.00001
NM_000283.4(PDE6B):c.1128C>T (p.Ser376=) rs527322755 0.00001
NM_000283.4(PDE6B):c.1129G>A (p.Gly377Arg) rs373742526 0.00001
NM_000283.4(PDE6B):c.1133G>A (p.Trp378Ter) rs367889201 0.00001
NM_000283.4(PDE6B):c.1134G>A (p.Trp378Ter) rs1360000258 0.00001
NM_000283.4(PDE6B):c.1143G>C (p.Lys381Asn) rs1191669298 0.00001
NM_000283.4(PDE6B):c.115G>A (p.Gly39Arg) rs151334566 0.00001
NM_000283.4(PDE6B):c.1243G>A (p.Glu415Lys) rs750599200 0.00001
NM_000283.4(PDE6B):c.1273C>G (p.Leu425Val) rs1736405182 0.00001
NM_000283.4(PDE6B):c.1286T>A (p.Val429Glu) rs1304399193 0.00001
NM_000283.4(PDE6B):c.1287G>A (p.Val429=) rs759351497 0.00001
NM_000283.4(PDE6B):c.1295C>T (p.Thr432Ile) rs775120495 0.00001
NM_000283.4(PDE6B):c.1305C>T (p.Tyr435=) rs764993920 0.00001
NM_000283.4(PDE6B):c.1330C>T (p.Arg444Cys) rs189094454 0.00001
NM_000283.4(PDE6B):c.1351A>G (p.Met451Val) rs375564041 0.00001
NM_000283.4(PDE6B):c.1370A>G (p.Lys457Arg) rs574676553 0.00001
NM_000283.4(PDE6B):c.1373G>A (p.Cys458Tyr) rs761428338 0.00001
NM_000283.4(PDE6B):c.1374C>T (p.Cys458=) rs541985727 0.00001
NM_000283.4(PDE6B):c.1384G>A (p.Glu462Lys) rs560334464 0.00001
NM_000283.4(PDE6B):c.1401+6_1401+7insT rs776540118 0.00001
NM_000283.4(PDE6B):c.1424A>T (p.Lys475Met) rs1736701038 0.00001
NM_000283.4(PDE6B):c.1459G>A (p.Glu487Lys) rs139369984 0.00001
NM_000283.4(PDE6B):c.1509A>C (p.Glu503Asp) rs1270538372 0.00001
NM_000283.4(PDE6B):c.1536C>T (p.Thr512=) rs1428297472 0.00001
NM_000283.4(PDE6B):c.1537G>C (p.Glu513Gln) rs768260906 0.00001
NM_000283.4(PDE6B):c.1541T>G (p.Leu514Arg) rs771286479 0.00001
NM_000283.4(PDE6B):c.1590C>T (p.Val530=) rs202244041 0.00001
NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn) rs527236088 0.00001
NM_000283.4(PDE6B):c.1614+13G>A rs373070989 0.00001
NM_000283.4(PDE6B):c.1615-11G>A rs934976363 0.00001
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp) rs760042062 0.00001
NM_000283.4(PDE6B):c.1632G>A (p.Leu544=) rs753504550 0.00001
NM_000283.4(PDE6B):c.1671C>T (p.His557=) rs919002816 0.00001
NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131 0.00001
NM_000283.4(PDE6B):c.1679G>A (p.Arg560His) rs777799273 0.00001
NM_000283.4(PDE6B):c.1682A>G (p.His561Arg) rs1305333312 0.00001
NM_000283.4(PDE6B):c.1692C>T (p.Asn564=) rs1226622625 0.00001
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter) rs772057239 0.00001
NM_000283.4(PDE6B):c.1704G>A (p.Thr568=) rs143615664 0.00001
NM_000283.4(PDE6B):c.1712C>T (p.Thr571Met) rs761619791 0.00001
NM_000283.4(PDE6B):c.1719C>T (p.Leu573=) rs751960878 0.00001
NM_000283.4(PDE6B):c.1726G>A (p.Gly576Ser) rs753925314 0.00001
NM_000283.4(PDE6B):c.174G>A (p.Ala58=) rs1183580191 0.00001
NM_000283.4(PDE6B):c.1761C>T (p.Ala587=) rs768721197 0.00001
NM_000283.4(PDE6B):c.1780G>A (p.Gly594Ser) rs536681553 0.00001
NM_000283.4(PDE6B):c.1806C>T (p.Arg602=) rs140849790 0.00001
NM_000283.4(PDE6B):c.1811C>T (p.Thr604Ile) rs752738349 0.00001
NM_000283.4(PDE6B):c.181G>T (p.Glu61Ter) rs767438881 0.00001
NM_000283.4(PDE6B):c.1832+17G>A rs769044865 0.00001
NM_000283.4(PDE6B):c.1832+4G>A rs770501384 0.00001
NM_000283.4(PDE6B):c.1832+9C>G rs1157614814 0.00001
NM_000283.4(PDE6B):c.1833-9G>A rs766606835 0.00001
NM_000283.4(PDE6B):c.183G>A (p.Glu61=) rs752986583 0.00001
NM_000283.4(PDE6B):c.1852A>C (p.Lys618Gln) rs1169477125 0.00001
NM_000283.4(PDE6B):c.1854G>A (p.Lys618=) rs755888988 0.00001
NM_000283.4(PDE6B):c.1860C>G (p.His620Gln) rs371908618 0.00001
NM_000283.4(PDE6B):c.1865C>G (p.Ser622Cys) rs373925141 0.00001
NM_000283.4(PDE6B):c.1895T>C (p.Phe632Ser) rs773420808 0.00001
NM_000283.4(PDE6B):c.1910T>C (p.Leu637Pro) rs774575442 0.00001
NM_000283.4(PDE6B):c.1920+2T>C rs763996159 0.00001
NM_000283.4(PDE6B):c.1920+8T>A rs1737329728 0.00001
NM_000283.4(PDE6B):c.1921-8C>T rs1374835946 0.00001
NM_000283.4(PDE6B):c.192G>C (p.Gln64His) rs1340296893 0.00001
NM_000283.4(PDE6B):c.1949G>A (p.Arg650Gln) rs1182502700 0.00001
NM_000283.4(PDE6B):c.1992C>T (p.Ile664=) rs1194769039 0.00001
NM_000283.4(PDE6B):c.1995C>G (p.Ile665Met) rs752437687 0.00001
NM_000283.4(PDE6B):c.1996G>A (p.Ala666Thr) rs779474710 0.00001
NM_000283.4(PDE6B):c.2004C>T (p.Asp668=) rs1251819750 0.00001
NM_000283.4(PDE6B):c.2019C>T (p.Phe673=) rs959265084 0.00001
NM_000283.4(PDE6B):c.2039A>G (p.Gln680Arg) rs1432322807 0.00001
NM_000283.4(PDE6B):c.2069A>C (p.Gln690Pro) rs1560135667 0.00001
NM_000283.4(PDE6B):c.2106G>A (p.Glu702=) rs749521240 0.00001
NM_000283.4(PDE6B):c.2107A>G (p.Thr703Ala) rs757484823 0.00001
NM_000283.4(PDE6B):c.2114G>A (p.Arg705Gln) rs200397909 0.00001
NM_000283.4(PDE6B):c.2124C>T (p.Ile708=) rs144847778 0.00001
NM_000283.4(PDE6B):c.2129+3G>A rs753240857 0.00001
NM_000283.4(PDE6B):c.2130-15G>A rs765410161 0.00001
NM_000283.4(PDE6B):c.2130-1G>A rs148555862 0.00001
NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu) rs751413984 0.00001
NM_000283.4(PDE6B):c.217G>A (p.Glu73Lys) rs779379143 0.00001
NM_000283.4(PDE6B):c.2193+14G>A rs763070500 0.00001
NM_000283.4(PDE6B):c.2352G>A (p.Lys784=) rs766851759 0.00001
NM_000283.4(PDE6B):c.2413A>G (p.Lys805Glu) rs767951010 0.00001
NM_000283.4(PDE6B):c.2419T>C (p.Trp807Arg) rs121918583 0.00001
NM_000283.4(PDE6B):c.241C>T (p.Arg81Trp) rs775472684 0.00001
NM_000283.4(PDE6B):c.244C>T (p.Arg82Cys) rs754051319 0.00001
NM_000283.4(PDE6B):c.2454G>A (p.Val818=) rs746531876 0.00001
NM_000283.4(PDE6B):c.2503+5G>C rs772596728 0.00001
NM_000283.4(PDE6B):c.2504-19C>T rs555949349 0.00001
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter) rs970768801 0.00001
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718 0.00001
NM_000283.4(PDE6B):c.293G>A (p.Arg98His) rs776050413 0.00001
NM_000283.4(PDE6B):c.296A>G (p.Gln99Arg) rs576548604 0.00001
NM_000283.4(PDE6B):c.303C>T (p.Asn101=) rs747505315 0.00001
NM_000283.4(PDE6B):c.308T>C (p.Val103Ala) rs769212020 0.00001
NM_000283.4(PDE6B):c.309G>A (p.Val103=) rs921170968 0.00001
NM_000283.4(PDE6B):c.312C>G (p.Ala104=) rs754551261 0.00001
NM_000283.4(PDE6B):c.350G>A (p.Ser117Asn) rs1463082566 0.00001
NM_000283.4(PDE6B):c.351C>T (p.Ser117=) rs747455507 0.00001
NM_000283.4(PDE6B):c.354C>T (p.Val118=) rs1465909388 0.00001
NM_000283.4(PDE6B):c.365G>A (p.Cys122Tyr) rs1313437038 0.00001
NM_000283.4(PDE6B):c.378C>T (p.Pro126=) rs762663455 0.00001
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) rs749657417 0.00001
NM_000283.4(PDE6B):c.390C>T (p.Ile130=) rs755636741 0.00001
NM_000283.4(PDE6B):c.3G>T (p.Met1Ile) rs1734048235 0.00001
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg) rs781658083 0.00001
NM_000283.4(PDE6B):c.442A>T (p.Met148Leu) rs775561306 0.00001
NM_000283.4(PDE6B):c.465C>T (p.Ala155=) rs764834408 0.00001
NM_000283.4(PDE6B):c.466G>A (p.Glu156Lys) rs751982910 0.00001
NM_000283.4(PDE6B):c.46C>G (p.Pro16Ala) rs1360629462 0.00001
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn) rs574098823 0.00001
NM_000283.4(PDE6B):c.485C>T (p.Ser162Leu) rs772012465 0.00001
NM_000283.4(PDE6B):c.49G>A (p.Asp17Asn) rs866891056 0.00001
NM_000283.4(PDE6B):c.502A>T (p.Thr168Ser) rs1734559404 0.00001
NM_000283.4(PDE6B):c.525G>A (p.Met175Ile) rs772876974 0.00001
NM_000283.4(PDE6B):c.574G>A (p.Ala192Thr) rs368548274 0.00001
NM_000283.4(PDE6B):c.610G>T (p.Glu204Ter) rs765804881 0.00001
NM_000283.4(PDE6B):c.622-20T>C rs756813982 0.00001
NM_000283.4(PDE6B):c.71G>C (p.Gly24Ala) rs1339216331 0.00001
NM_000283.4(PDE6B):c.723G>T (p.Trp241Cys) rs1064796921 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000283.4(PDE6B):c.752C>T (p.Thr251Met) rs747155909 0.00001
NM_000283.4(PDE6B):c.756del (p.Asp252fs) rs1360639709 0.00001
NM_000283.4(PDE6B):c.759C>T (p.Ile253=) rs776166987 0.00001
NM_000283.4(PDE6B):c.764G>C (p.Arg255Thr) rs1735846674 0.00001
NM_000283.4(PDE6B):c.793C>T (p.Arg265Trp) rs750845388 0.00001
NM_000283.4(PDE6B):c.800A>T (p.Tyr267Phe) rs190999087 0.00001
NM_000283.4(PDE6B):c.815G>A (p.Arg272Gln) rs760089278 0.00001
NM_000283.4(PDE6B):c.822C>T (p.Ser274=) rs763317989 0.00001
NM_000283.4(PDE6B):c.837del (p.Asp279fs) rs746141070 0.00001
NM_000283.4(PDE6B):c.838A>G (p.Met280Val) rs368480280 0.00001
NM_000283.4(PDE6B):c.903G>A (p.Ser301=) rs768183931 0.00001
NM_000283.4(PDE6B):c.914C>T (p.Thr305Met) rs776099625 0.00001
NM_000283.4(PDE6B):c.925C>T (p.Arg309Trp) rs764673374 0.00001
NM_000283.4(PDE6B):c.927+5G>A rs920662600 0.00001
NM_000283.4(PDE6B):c.932T>C (p.Ile311Thr) rs886059543 0.00001
NM_000283.4(PDE6B):c.968G>A (p.Gly323Asp) rs151029036 0.00001
NM_000283.4(PDE6B):c.990T>C (p.Ile330=) rs142350331 0.00001
NM_000283.4(PDE6B):c.992+8C>G rs1176081407 0.00001
NM_000283.4(PDE6B):c.993-17C>T rs772078851 0.00001
GRCh37/hg19 4p16.3(chr4:629047-642251)x1
GRCh37/hg19 4p16.3(chr4:662115-663403)x1
GRCh37/hg19 4p16.3(chr4:662301-663908)x1
NC_000004.11:g.(?_628446)_(629778_?)del
NC_000004.11:g.(?_647641)_(648677_?)del
NC_000004.11:g.(?_651219)_(652826_?)del
NC_000004.11:g.(?_652721)_(656427_?)del
NC_000004.11:g.(?_652741)_(656407_?)del
NC_000004.11:g.(?_654236)_(663896_?)dup
NC_000004.11:g.(?_663815)_(663896_?)del
NC_000004.12:g.(?_625627)_(626094_?)del
NC_000004.12:g.(?_666531)_(668006_?)del
NM_000283.3(PDE6B):c.1468_1470del rs764601732
NM_000283.3:c.+12A>G
NM_000283.4(PDE6B):c.*153dup rs374413250
NM_000283.4(PDE6B):c.1005C>G (p.Ala335=) rs370605672
NM_000283.4(PDE6B):c.1005C>T (p.Ala335=)
NM_000283.4(PDE6B):c.1006G>T (p.Asp336Tyr) rs751003798
NM_000283.4(PDE6B):c.100G>A (p.Ala34Thr)
NM_000283.4(PDE6B):c.100G>C (p.Ala34Pro) rs182545478
NM_000283.4(PDE6B):c.1010A>G (p.His337Arg) rs1736178477
NM_000283.4(PDE6B):c.1021G>A (p.Ala341Thr)
NM_000283.4(PDE6B):c.1026C>T (p.Ser342=) rs754298712
NM_000283.4(PDE6B):c.1042G>T (p.Val348Leu)
NM_000283.4(PDE6B):c.1048G>C (p.Glu350Gln) rs2109207919
NM_000283.4(PDE6B):c.1054G>T (p.Gly352Cys) rs781265218
NM_000283.4(PDE6B):c.1059+10G>C
NM_000283.4(PDE6B):c.1059+19G>A
NM_000283.4(PDE6B):c.1059+1G>C rs2109208075
NM_000283.4(PDE6B):c.1059+2_1059+3del
NM_000283.4(PDE6B):c.1060-1G>T rs863223339
NM_000283.4(PDE6B):c.1060-20T>C
NM_000283.4(PDE6B):c.1060-9C>G rs2109209673
NM_000283.4(PDE6B):c.1063T>G (p.Cys355Gly) rs1413886785
NM_000283.4(PDE6B):c.1066A>G (p.Asn356Asp) rs1736225856
NM_000283.4(PDE6B):c.1094T>C (p.Met365Thr) rs2109209965
NM_000283.4(PDE6B):c.1102T>C (p.Phe368Leu) rs2109210019
NM_000283.4(PDE6B):c.1107+13G>T
NM_000283.4(PDE6B):c.1107+15C>T
NM_000283.4(PDE6B):c.1107+19G>A
NM_000283.4(PDE6B):c.1107+6T>G rs1736232746
NM_000283.4(PDE6B):c.1107+9C>G rs2109210141
NM_000283.4(PDE6B):c.1107+9C>T
NM_000283.4(PDE6B):c.1108-5C>T
NM_000283.4(PDE6B):c.110A>G (p.Glu37Gly) rs1208473466
NM_000283.4(PDE6B):c.1110A>G (p.Glu370=)
NM_000283.4(PDE6B):c.1114del (p.Ala372fs) rs2109214218
NM_000283.4(PDE6B):c.1123G>A (p.Asp375Asn)
NM_000283.4(PDE6B):c.112G>A (p.Asp38Asn)
NM_000283.4(PDE6B):c.1135C>T (p.Leu379Phe) rs2109214383
NM_000283.4(PDE6B):c.1140C>T (p.Ile380=) rs2109214419
NM_000283.4(PDE6B):c.1143_1145del (p.Lys381del)
NM_000283.4(PDE6B):c.1146T>C (p.Asn382=)
NM_000283.4(PDE6B):c.1147G>A (p.Val383Met)
NM_000283.4(PDE6B):c.1150_1186del (p.Leu384fs) rs754453234
NM_000283.4(PDE6B):c.1151T>C (p.Leu384Pro)
NM_000283.4(PDE6B):c.1159C>T (p.Pro387Ser)
NM_000283.4(PDE6B):c.1160C>T (p.Pro387Leu) rs1392709495
NM_000283.4(PDE6B):c.1161C>T (p.Pro387=)
NM_000283.4(PDE6B):c.1164C>A (p.Ile388=) rs779243382
NM_000283.4(PDE6B):c.1171AAG[1] (p.Lys392del) rs757388131
NM_000283.4(PDE6B):c.1183A>G (p.Ile395Val) rs2109214772
NM_000283.4(PDE6B):c.1192G>A (p.Val398Ile)
NM_000283.4(PDE6B):c.1206C>G (p.Tyr402Ter) rs1553810330
NM_000283.4(PDE6B):c.1209C>T (p.Asn403=)
NM_000283.4(PDE6B):c.1210A>G (p.Arg404Gly) rs1736342067
NM_000283.4(PDE6B):c.1215A>G (p.Lys405=)
NM_000283.4(PDE6B):c.1223A>C (p.Lys408Thr) rs2109215015
NM_000283.4(PDE6B):c.122C>G (p.Pro41Arg) rs1231216242
NM_000283.4(PDE6B):c.1233C>T (p.Asp411=) rs761301106
NM_000283.4(PDE6B):c.1234G>A (p.Glu412Lys)
NM_000283.4(PDE6B):c.1235A>G (p.Glu412Gly)
NM_000283.4(PDE6B):c.123G>T (p.Pro41=) rs113459274
NM_000283.4(PDE6B):c.1242C>T (p.Asp414=)
NM_000283.4(PDE6B):c.1257+11G>A rs2109215372
NM_000283.4(PDE6B):c.1257+13G>A rs2109215402
NM_000283.4(PDE6B):c.1257+6C>A
NM_000283.4(PDE6B):c.1258-19_1259dup rs2109217636
NM_000283.4(PDE6B):c.1258-2A>G rs1736402440
NM_000283.4(PDE6B):c.1258-5T>C
NM_000283.4(PDE6B):c.1258-9C>T
NM_000283.4(PDE6B):c.1259C>A (p.Ser420Tyr)
NM_000283.4(PDE6B):c.125C>T (p.Pro42Leu)
NM_000283.4(PDE6B):c.1262T>C (p.Leu421Pro)
NM_000283.4(PDE6B):c.1267C>T (p.Gln423Ter)
NM_000283.4(PDE6B):c.1275G>A (p.Leu425=) rs2109217925
NM_000283.4(PDE6B):c.1278C>T (p.Gly426=) rs749366624
NM_000283.4(PDE6B):c.1280G>A (p.Trp427Ter) rs771148614
NM_000283.4(PDE6B):c.1281G>A (p.Trp427Ter) rs774502142
NM_000283.4(PDE6B):c.1290G>A (p.Met430Ile) rs2109218110
NM_000283.4(PDE6B):c.1293C>T (p.Asn431=) rs1257075612
NM_000283.4(PDE6B):c.1296C>G (p.Thr432=) rs114100439
NM_000283.4(PDE6B):c.1306G>A (p.Asp436Asn) rs750045921
NM_000283.4(PDE6B):c.1306G>T (p.Asp436Tyr)
NM_000283.4(PDE6B):c.1316A>G (p.Asn439Ser) rs2109218320
NM_000283.4(PDE6B):c.1331G>A (p.Arg444His)
NM_000283.4(PDE6B):c.1331G>T (p.Arg444Leu)
NM_000283.4(PDE6B):c.1365C>T (p.His455=)
NM_000283.4(PDE6B):c.1366G>T (p.Val456Leu)
NM_000283.4(PDE6B):c.1371G>C (p.Lys457Asn) rs2109218771
NM_000283.4(PDE6B):c.1387A>C (p.Ile463Leu)
NM_000283.4(PDE6B):c.139C>T (p.Leu47Phe) rs1378109538
NM_000283.4(PDE6B):c.1401+110_1401+155del
NM_000283.4(PDE6B):c.1401+17C>T
NM_000283.4(PDE6B):c.1401+18G>A
NM_000283.4(PDE6B):c.1401+18G>C rs370241561
NM_000283.4(PDE6B):c.1401+19T>C
NM_000283.4(PDE6B):c.1401+20C>T rs1736434131
NM_000283.4(PDE6B):c.1401+40_1401+85del
NM_000283.4(PDE6B):c.1401+49_1401+140del rs1736433555
NM_000283.4(PDE6B):c.1401+4_1401+48del rs768567008
NM_000283.4(PDE6B):c.1401+5_1401+52del rs2109219043
NM_000283.4(PDE6B):c.1401+7C>G rs905040350
NM_000283.4(PDE6B):c.1401+7C>T rs905040350
NM_000283.4(PDE6B):c.1401G>A (p.Leu467=)
NM_000283.4(PDE6B):c.1402-1G>C
NM_000283.4(PDE6B):c.1402-20A>G rs747157289
NM_000283.4(PDE6B):c.1402-5T>C
NM_000283.4(PDE6B):c.1403C>T (p.Pro468Leu) rs1420482878
NM_000283.4(PDE6B):c.1407C>A (p.Thr469=)
NM_000283.4(PDE6B):c.1430C>G (p.Pro477Arg) rs765743401
NM_000283.4(PDE6B):c.1432G>A (p.Ala478Thr)
NM_000283.4(PDE6B):c.1440C>T (p.Cys480=) rs755308738
NM_000283.4(PDE6B):c.1441G>T (p.Asp481Tyr)
NM_000283.4(PDE6B):c.1450G>A (p.Glu484Lys)
NM_000283.4(PDE6B):c.1458C>T (p.Gly486=)
NM_000283.4(PDE6B):c.1467+12G>C
NM_000283.4(PDE6B):c.1467+1G>T rs527236089
NM_000283.4(PDE6B):c.1467+8C>A
NM_000283.4(PDE6B):c.1468-2A>G rs763371769
NM_000283.4(PDE6B):c.1471G>A (p.Glu491Lys) rs2109242332
NM_000283.4(PDE6B):c.1485dup (p.Pro496fs) rs1360937549
NM_000283.4(PDE6B):c.1488CAC[1] (p.Thr498del) rs1553812485
NM_000283.4(PDE6B):c.1488dup (p.Thr497fs) rs730880317
NM_000283.4(PDE6B):c.1498G>C (p.Asp500His) rs1287509484
NM_000283.4(PDE6B):c.1498G>T (p.Asp500Tyr) rs1287509484
NM_000283.4(PDE6B):c.1505A>G (p.Tyr502Cys) rs2109242586
NM_000283.4(PDE6B):c.1507G>C (p.Glu503Gln) rs758303497
NM_000283.4(PDE6B):c.1514A>C (p.His505Pro)
NM_000283.4(PDE6B):c.1526T>A (p.Leu509Gln)
NM_000283.4(PDE6B):c.1532G>T (p.Cys511Phe)
NM_000283.4(PDE6B):c.1538A>C (p.Glu513Ala) rs1307178553
NM_000283.4(PDE6B):c.1540C>G (p.Leu514Val) rs780830241
NM_000283.4(PDE6B):c.1559G>A (p.Gly520Asp)
NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg)
NM_000283.4(PDE6B):c.1569G>T (p.Met523Ile)
NM_000283.4(PDE6B):c.1572del (p.Tyr525fs)
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.4(PDE6B):c.1584C>A (p.Gly528=) rs145273613
NM_000283.4(PDE6B):c.1584C>T (p.Gly528=)
NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln) rs144664551
NM_000283.4(PDE6B):c.1592G>C (p.Arg531Pro) rs144664551
NM_000283.4(PDE6B):c.160GAG[1] (p.Glu55del) rs2109112982
NM_000283.4(PDE6B):c.1612G>A (p.Glu538Lys)
NM_000283.4(PDE6B):c.1614+7G>A rs1273222836
NM_000283.4(PDE6B):c.1615-10G>A
NM_000283.4(PDE6B):c.1615-11G>C rs934976363
NM_000283.4(PDE6B):c.1615-12C>T
NM_000283.4(PDE6B):c.1615-16C>A
NM_000283.4(PDE6B):c.1615-1G>C rs2109252915
NM_000283.4(PDE6B):c.1620G>A (p.Leu540=)
NM_000283.4(PDE6B):c.1621G>A (p.Val541Met)
NM_000283.4(PDE6B):c.1644C>A (p.Ser548Arg)
NM_000283.4(PDE6B):c.1660A>G (p.Ile554Val) rs1293093659
NM_000283.4(PDE6B):c.1662C>G (p.Ile554Met)
NM_000283.4(PDE6B):c.1664C>G (p.Thr555Ser)
NM_000283.4(PDE6B):c.1681C>T (p.His561Tyr)
NM_000283.4(PDE6B):c.1693G>A (p.Val565Met)
NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs) rs1553801591
NM_000283.4(PDE6B):c.1717C>T (p.Leu573Phe)
NM_000283.4(PDE6B):c.1722+14_1722+37dup rs750408903
NM_000283.4(PDE6B):c.1723-13C>T
NM_000283.4(PDE6B):c.1723-18G>T rs1737224697
NM_000283.4(PDE6B):c.1723-2A>G
NM_000283.4(PDE6B):c.1725C>T (p.Thr575=) rs764517248
NM_000283.4(PDE6B):c.1727G>A (p.Gly576Asp)
NM_000283.4(PDE6B):c.1740C>T (p.Ser580=) rs2109255059
NM_000283.4(PDE6B):c.1745A>G (p.Tyr582Cys) rs779222916
NM_000283.4(PDE6B):c.1749G>A (p.Thr583=) rs139938205
NM_000283.4(PDE6B):c.1751A>T (p.Asp584Val) rs2109255194
NM_000283.4(PDE6B):c.1752C>T (p.Asp584=) rs1737231745
NM_000283.4(PDE6B):c.1764C>T (p.Phe588=)
NM_000283.4(PDE6B):c.1765dup (p.Ala589fs) rs2109255277
NM_000283.4(PDE6B):c.1768A>G (p.Met590Val)
NM_000283.4(PDE6B):c.1769T>C (p.Met590Thr)
NM_000283.4(PDE6B):c.1779C>A (p.Ala593=) rs769147926
NM_000283.4(PDE6B):c.177G>A (p.Leu59=)
NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val) rs766049601
NM_000283.4(PDE6B):c.1804C>G (p.Arg602Gly) rs754298498
NM_000283.4(PDE6B):c.1810A>T (p.Thr604Ser) rs1737239664
NM_000283.4(PDE6B):c.1831A>G (p.Lys611Glu)
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
NM_000283.4(PDE6B):c.1832+237_1832+238del rs36093261
NM_000283.4(PDE6B):c.1832+238del rs36093261
NM_000283.4(PDE6B):c.1832+238dup rs36093261
NM_000283.4(PDE6B):c.1833-15C>G
NM_000283.4(PDE6B):c.1833-1G>C rs1737312210
NM_000283.4(PDE6B):c.1833-53G>T
NM_000283.4(PDE6B):c.1833G>A (p.Lys611=)
NM_000283.4(PDE6B):c.1833G>C (p.Lys611Asn)
NM_000283.4(PDE6B):c.1841del (p.Asn614fs)
NM_000283.4(PDE6B):c.1841dup (p.Asn614fs) rs747970185
NM_000283.4(PDE6B):c.1844C>T (p.Pro615Leu)
NM_000283.4(PDE6B):c.1860C>T (p.His620=)
NM_000283.4(PDE6B):c.1862G>T (p.Gly621Val)
NM_000283.4(PDE6B):c.1863CTC[1] (p.Ser623del) rs1737317313
NM_000283.4(PDE6B):c.1866C>T (p.Ser622=) rs2109258518
NM_000283.4(PDE6B):c.187G>C (p.Val63Leu)
NM_000283.4(PDE6B):c.1885C>T (p.His629Tyr)
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=) rs1737323722
NM_000283.4(PDE6B):c.1898G>A (p.Gly633Glu)
NM_000283.4(PDE6B):c.1909C>A (p.Leu637Ile)
NM_000283.4(PDE6B):c.1913C>G (p.Ser638Trp) rs767873714
NM_000283.4(PDE6B):c.1920+13A>G
NM_000283.4(PDE6B):c.1920+9del rs2109258968
NM_000283.4(PDE6B):c.1921-13A>G
NM_000283.4(PDE6B):c.1921-15G>C
NM_000283.4(PDE6B):c.1921-1G>A
NM_000283.4(PDE6B):c.1921-2A>G rs1469569680
NM_000283.4(PDE6B):c.1921-4G>A rs1231048243
NM_000283.4(PDE6B):c.1921-9C>G rs1577301137
NM_000283.4(PDE6B):c.1922C>G (p.Thr641Ser) rs1422340072
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.1927_1967del (p.Asn643fs) rs1296042817
NM_000283.4(PDE6B):c.1927_1969delinsGG (p.Asn643fs) rs1737428529
NM_000283.4(PDE6B):c.1930A>G (p.Ile644Val) rs746421870
NM_000283.4(PDE6B):c.1935C>A (p.Tyr645Ter) rs1737429976
NM_000283.4(PDE6B):c.1936C>T (p.Gln646Ter)
NM_000283.4(PDE6B):c.1944G>A (p.Leu648=)
NM_000283.4(PDE6B):c.1949G>T (p.Arg650Leu)
NM_000283.4(PDE6B):c.1951C>G (p.Arg651Gly)
NM_000283.4(PDE6B):c.1952G>A (p.Arg651Gln)
NM_000283.4(PDE6B):c.1957C>T (p.His653Tyr) rs2109262633
NM_000283.4(PDE6B):c.1964A>T (p.His655Leu)
NM_000283.4(PDE6B):c.1965C>T (p.His655=) rs2109262734
NM_000283.4(PDE6B):c.1972C>T (p.His658Tyr) rs2109262780
NM_000283.4(PDE6B):c.1973A>C (p.His658Pro) rs1330095073
NM_000283.4(PDE6B):c.1991T>G (p.Ile664Ser) rs1737440165
NM_000283.4(PDE6B):c.2001G>A (p.Thr667=) rs1003542272
NM_000283.4(PDE6B):c.2001G>C (p.Thr667=)
NM_000283.4(PDE6B):c.2005C>T (p.Leu669=)
NM_000283.4(PDE6B):c.200A>G (p.Gln67Arg)
NM_000283.4(PDE6B):c.2021+14G>A
NM_000283.4(PDE6B):c.2021+2T>G rs1577301589
NM_000283.4(PDE6B):c.2022-11C>T
NM_000283.4(PDE6B):c.2028A>G (p.Arg676=)
NM_000283.4(PDE6B):c.202G>A (p.Glu68Lys) rs1258894644
NM_000283.4(PDE6B):c.2051A>T (p.Asp684Val)
NM_000283.4(PDE6B):c.2055G>C (p.Glu685Asp) rs199531882
NM_000283.4(PDE6B):c.2072A>T (p.Asp691Val)
NM_000283.4(PDE6B):c.2082C>T (p.Ser694=)
NM_000283.4(PDE6B):c.2095C>A (p.Leu699Met)
NM_000283.4(PDE6B):c.2095C>T (p.Leu699=)
NM_000283.4(PDE6B):c.2096T>G (p.Leu699Arg) rs1737497878
NM_000283.4(PDE6B):c.2097G>C (p.Leu699=)
NM_000283.4(PDE6B):c.2098_2103del (p.Ser700_Leu701del)
NM_000283.4(PDE6B):c.2110A>G (p.Thr704Ala)
NM_000283.4(PDE6B):c.2115G>A (p.Arg705=)
NM_000283.4(PDE6B):c.2115_2116delinsAT (p.Lys706Ter) rs1737503567
NM_000283.4(PDE6B):c.2116A>G (p.Lys706Glu)
NM_000283.4(PDE6B):c.2117A>G (p.Lys706Arg)
NM_000283.4(PDE6B):c.2119G>A (p.Glu707Lys)
NM_000283.4(PDE6B):c.2125G>A (p.Val709Ile) rs1737505080
NM_000283.4(PDE6B):c.2129+19G>A rs1426463863
NM_000283.4(PDE6B):c.2129+5G>A
NM_000283.4(PDE6B):c.2129+9G>A
NM_000283.4(PDE6B):c.2130-16C>A rs377216301
NM_000283.4(PDE6B):c.2130-16C>T
NM_000283.4(PDE6B):c.2138T>A (p.Met713Lys) rs371322951
NM_000283.4(PDE6B):c.2139G>A (p.Met713Ile)
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000283.4(PDE6B):c.2152G>T (p.Asp718Tyr) rs150639487
NM_000283.4(PDE6B):c.2154C>A (p.Asp718Glu) rs748726198
NM_000283.4(PDE6B):c.2184C>T (p.Val728=)
NM_000283.4(PDE6B):c.2186A>C (p.Gln729Pro)
NM_000283.4(PDE6B):c.2189G>A (p.Ser730Asn)
NM_000283.4(PDE6B):c.2191A>G (p.Lys731Glu)
NM_000283.4(PDE6B):c.2193+15C>G
NM_000283.4(PDE6B):c.2193+18T>C
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.2193+1G>T
NM_000283.4(PDE6B):c.2193+2T>G
NM_000283.4(PDE6B):c.2194-14T>C
NM_000283.4(PDE6B):c.2194-20C>G
NM_000283.4(PDE6B):c.2196C>T (p.Val732=)
NM_000283.4(PDE6B):c.2197G>A (p.Ala733Thr)
NM_000283.4(PDE6B):c.2197G>C (p.Ala733Pro) rs367879245
NM_000283.4(PDE6B):c.2197G>T (p.Ala733Ser) rs367879245
NM_000283.4(PDE6B):c.2200C>T (p.Leu734Phe)
NM_000283.4(PDE6B):c.2210C>G (p.Ala737Gly) rs574529843
NM_000283.4(PDE6B):c.2210C>T (p.Ala737Val)
NM_000283.4(PDE6B):c.2214T>C (p.Ala738=)
NM_000283.4(PDE6B):c.2226G>C (p.Glu742Asp) rs1477762818
NM_000283.4(PDE6B):c.2227C>A (p.Gln743Lys) rs1171957489
NM_000283.4(PDE6B):c.2243G>A (p.Arg748Lys) rs749866009
NM_000283.4(PDE6B):c.2254G>C (p.Asp752His)
NM_000283.4(PDE6B):c.2257C>T (p.Gln753Ter) rs779052095
NM_000283.4(PDE6B):c.2268+13_2268+14delinsAT rs2109271734
NM_000283.4(PDE6B):c.2268+20C>G rs201982527
NM_000283.4(PDE6B):c.2268+26A>T rs76590730
NM_000283.4(PDE6B):c.2268+8C>T
NM_000283.4(PDE6B):c.2269-3C>T
NM_000283.4(PDE6B):c.2276T>A (p.Met759Lys) rs1440621071
NM_000283.4(PDE6B):c.2291C>T (p.Ala764Val)
NM_000283.4(PDE6B):c.2296G>A (p.Glu766Lys)
NM_000283.4(PDE6B):c.2298G>T (p.Glu766Asp)
NM_000283.4(PDE6B):c.2323A>G (p.Ile775Val)
NM_000283.4(PDE6B):c.2331C>A (p.Phe777Leu) rs35792756
NM_000283.4(PDE6B):c.2334G>C (p.Val778=)
NM_000283.4(PDE6B):c.2340A>C (p.Thr780=)
NM_000283.4(PDE6B):c.2352+2C>A rs751661904
NM_000283.4(PDE6B):c.2353-13C>T rs369466418
NM_000283.4(PDE6B):c.2353-18_2354del rs1174120641
NM_000283.4(PDE6B):c.2353G>A (p.Glu785Lys) rs1211131572
NM_000283.4(PDE6B):c.2353G>C (p.Glu785Gln)
NM_000283.4(PDE6B):c.2354A>T (p.Glu785Val) rs1737975912
NM_000283.4(PDE6B):c.2362C>T (p.Arg788Cys) rs954562282
NM_000283.4(PDE6B):c.2363G>T (p.Arg788Leu)
NM_000283.4(PDE6B):c.2370C>G (p.His790Gln)
NM_000283.4(PDE6B):c.2370C>T (p.His790=)
NM_000283.4(PDE6B):c.2391C>A (p.Phe797Leu) rs143154045
NM_000283.4(PDE6B):c.2391C>T (p.Phe797=) rs143154045
NM_000283.4(PDE6B):c.2396G>C (p.Arg799Pro) rs546425862
NM_000283.4(PDE6B):c.2399T>C (p.Leu800Pro)
NM_000283.4(PDE6B):c.23C>T (p.Ala8Val)
NM_000283.4(PDE6B):c.2407A>G (p.Asn803Asp) rs771338607
NM_000283.4(PDE6B):c.2412G>A (p.Arg804=) rs1560141047
NM_000283.4(PDE6B):c.2427G>A (p.Ala809=)
NM_000283.4(PDE6B):c.2430G>A (p.Leu810=)
NM_000283.4(PDE6B):c.2439G>A (p.Glu813=) rs1033900253
NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter) rs1577311264
NM_000283.4(PDE6B):c.2449A>G (p.Lys817Glu) rs1737991897
NM_000283.4(PDE6B):c.2455A>T (p.Lys819Ter) rs754557819
NM_000283.4(PDE6B):c.2457G>A (p.Lys819=)
NM_000283.4(PDE6B):c.2469G>A (p.Glu823=)
NM_000283.4(PDE6B):c.2470_2472del (p.Lys824del)
NM_000283.4(PDE6B):c.2470_2478del (p.Lys824_Glu826del) rs752433299
NM_000283.4(PDE6B):c.2473GAG[3] (p.Glu828del) rs777568669
NM_000283.4(PDE6B):c.2473GAG[5] (p.Glu828dup) rs777568669
NM_000283.4(PDE6B):c.2476G>C (p.Glu826Gln) rs368110918
NM_000283.4(PDE6B):c.247C>G (p.Leu83Val)
NM_000283.4(PDE6B):c.2492C>A (p.Ala831Glu)
NM_000283.4(PDE6B):c.2492C>T (p.Ala831Val)
NM_000283.4(PDE6B):c.2503+1G>T
NM_000283.4(PDE6B):c.2504-16C>T
NM_000283.4(PDE6B):c.250T>C (p.Cys84Arg) rs1487940556
NM_000283.4(PDE6B):c.2514A>C (p.Glu838Asp) rs2109297210
NM_000283.4(PDE6B):c.2517T>A (p.Ile839=) rs2109297216
NM_000283.4(PDE6B):c.2526C>G (p.Gly842=)
NM_000283.4(PDE6B):c.2534C>A (p.Ala845Glu)
NM_000283.4(PDE6B):c.2537C>A (p.Pro846His) rs540571001
NM_000283.4(PDE6B):c.2547A>G (p.Ser849=)
NM_000283.4(PDE6B):c.2550C>T (p.Thr850=)
NM_000283.4(PDE6B):c.255C>T (p.Thr85=)
NM_000283.4(PDE6B):c.2562G>A (p.Leu854=) rs2109297456
NM_000283.4(PDE6B):c.2563T>A (p.Ter855Arg)
NM_000283.4(PDE6B):c.2563T>C (p.Ter855Arg) rs1738347357
NM_000283.4(PDE6B):c.2565A>C (p.Ter855Cys) rs2109297480
NM_000283.4(PDE6B):c.25del (p.Arg9fs) rs2109112564
NM_000283.4(PDE6B):c.267C>G (p.Ala89=) rs147181781
NM_000283.4(PDE6B):c.268G>A (p.Asp90Asn)
NM_000283.4(PDE6B):c.273C>T (p.Arg91=)
NM_000283.4(PDE6B):c.278G>C (p.Ser93Thr) rs1331925035
NM_000283.4(PDE6B):c.284T>C (p.Phe95Ser) rs1734071567
NM_000283.4(PDE6B):c.286A>G (p.Met96Val)
NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys) rs537263212
NM_000283.4(PDE6B):c.299G>T (p.Arg100Leu) rs555600300
NM_000283.4(PDE6B):c.304G>T (p.Gly102Cys)
NM_000283.4(PDE6B):c.305G>A (p.Gly102Asp) rs762799836
NM_000283.4(PDE6B):c.30C>T (p.Ser10=)
NM_000283.4(PDE6B):c.312C>T (p.Ala104=) rs754551261
NM_000283.4(PDE6B):c.319G>A (p.Ala107Thr)
NM_000283.4(PDE6B):c.348C>T (p.Asp116=)
NM_000283.4(PDE6B):c.363C>A (p.Asp121Glu)
NM_000283.4(PDE6B):c.376C>T (p.Pro126Ser) rs1200186277
NM_000283.4(PDE6B):c.377C>G (p.Pro126Arg)
NM_000283.4(PDE6B):c.378del (p.Asp127fs)
NM_000283.4(PDE6B):c.387G>A (p.Glu129=)
NM_000283.4(PDE6B):c.415G>A (p.Val139Met)
NM_000283.4(PDE6B):c.415G>T (p.Val139Leu) rs545001524
NM_000283.4(PDE6B):c.417G>C (p.Val139=) rs1262548046
NM_000283.4(PDE6B):c.420C>T (p.Gly140=) rs749479647
NM_000283.4(PDE6B):c.424G>T (p.Val142Leu)
NM_000283.4(PDE6B):c.427del (p.Ala143fs)
NM_000283.4(PDE6B):c.428C>A (p.Ala143Asp) rs759382635
NM_000283.4(PDE6B):c.431A>C (p.Gln144Pro) rs2109113960
NM_000283.4(PDE6B):c.451G>A (p.Val151Ile)
NM_000283.4(PDE6B):c.453C>T (p.Val151=)
NM_000283.4(PDE6B):c.454G>A (p.Glu152Lys)
NM_000283.4(PDE6B):c.462G>A (p.Val154=)
NM_000283.4(PDE6B):c.468+12_468+15dup rs2109114110
NM_000283.4(PDE6B):c.468+1G>A
NM_000283.4(PDE6B):c.468+5G>A
NM_000283.4(PDE6B):c.469-12C>G
NM_000283.4(PDE6B):c.469-15C>A rs2109132958
NM_000283.4(PDE6B):c.469-6C>A
NM_000283.4(PDE6B):c.469-6C>T rs555822869
NM_000283.4(PDE6B):c.469T>C (p.Cys157Arg) rs757406419
NM_000283.4(PDE6B):c.477C>T (p.His159=) rs2109133035
NM_000283.4(PDE6B):c.491C>G (p.Ala164Gly) rs746748194
NM_000283.4(PDE6B):c.495C>T (p.Asp165=)
NM_000283.4(PDE6B):c.498G>C (p.Glu166Asp)
NM_000283.4(PDE6B):c.49G>T (p.Asp17Tyr)
NM_000283.4(PDE6B):c.508T>C (p.Tyr170His) rs2109133162
NM_000283.4(PDE6B):c.515C>A (p.Thr172Lys)
NM_000283.4(PDE6B):c.530C>T (p.Ala177Val)
NM_000283.4(PDE6B):c.540C>A (p.Ile180=)
NM_000283.4(PDE6B):c.543G>A (p.Met181Ile) rs2109133232
NM_000283.4(PDE6B):c.549C>T (p.Gly183=)
NM_000283.4(PDE6B):c.551A>G (p.Lys184Arg)
NM_000283.4(PDE6B):c.555C>G (p.Asp185Glu)
NM_000283.4(PDE6B):c.555C>T (p.Asp185=) rs757424904
NM_000283.4(PDE6B):c.555CGT[1] (p.Val187del) rs2109133264
NM_000283.4(PDE6B):c.556G>A (p.Val186Ile)
NM_000283.4(PDE6B):c.556G>T (p.Val186Phe) rs779085612
NM_000283.4(PDE6B):c.563C>T (p.Ala188Val)
NM_000283.4(PDE6B):c.570C>G (p.Ile190Met)
NM_000283.4(PDE6B):c.578T>C (p.Val193Ala)
NM_000283.4(PDE6B):c.582C>T (p.Asn194=)
NM_000283.4(PDE6B):c.594C>G (p.Gly198=) rs201222077
NM_000283.4(PDE6B):c.609CGAAGA[1] (p.204ED[1]) rs2109133427
NM_000283.4(PDE6B):c.610G>A (p.Glu204Lys) rs765804881
NM_000283.4(PDE6B):c.617A>G (p.Glu206Gly) rs913609037
NM_000283.4(PDE6B):c.621+10G>T
NM_000283.4(PDE6B):c.621+14dup rs756539666
NM_000283.4(PDE6B):c.621+16_621+29del rs778367434
NM_000283.4(PDE6B):c.621+17C>G rs374771421
NM_000283.4(PDE6B):c.621+1G>A
NM_000283.4(PDE6B):c.621+9G>A
NM_000283.4(PDE6B):c.621+9G>T rs1360878639
NM_000283.4(PDE6B):c.622-15C>T rs2109137085
NM_000283.4(PDE6B):c.622-1G>T
NM_000283.4(PDE6B):c.622-8T>C
NM_000283.4(PDE6B):c.632A>C (p.Lys211Thr)
NM_000283.4(PDE6B):c.634T>C (p.Tyr212His)
NM_000283.4(PDE6B):c.664A>T (p.Ile222Phe)
NM_000283.4(PDE6B):c.682C>T (p.Leu228Phe) rs201584824
NM_000283.4(PDE6B):c.698C>A (p.Thr233Lys)
NM_000283.4(PDE6B):c.703_704insT (p.Arg235fs) rs2109137293
NM_000283.4(PDE6B):c.704G>C (p.Arg235Pro) rs757918699
NM_000283.4(PDE6B):c.705C>T (p.Arg235=) rs760596729
NM_000283.4(PDE6B):c.710A>G (p.Gln237Arg)
NM_000283.4(PDE6B):c.712-10del
NM_000283.4(PDE6B):c.712-135A>G rs9992641
NM_000283.4(PDE6B):c.718C>T (p.Leu240=)
NM_000283.4(PDE6B):c.725C>G (p.Ser242Trp) rs757587074
NM_000283.4(PDE6B):c.726G>T (p.Ser242=)
NM_000283.4(PDE6B):c.74A>G (p.Lys25Arg)
NM_000283.4(PDE6B):c.754G>C (p.Asp252His)
NM_000283.4(PDE6B):c.754G>T (p.Asp252Tyr) rs1210313417
NM_000283.4(PDE6B):c.778G>T (p.Ala260Ser)
NM_000283.4(PDE6B):c.786C>T (p.Tyr262=) rs767006704
NM_000283.4(PDE6B):c.788C>A (p.Thr263Lys) rs755828989
NM_000283.4(PDE6B):c.78A>G (p.Lys26=) rs2109112708
NM_000283.4(PDE6B):c.797C>T (p.Ala266Val)
NM_000283.4(PDE6B):c.798C>G (p.Ala266=)
NM_000283.4(PDE6B):c.801C>A (p.Tyr267Ter)
NM_000283.4(PDE6B):c.801C>T (p.Tyr267=) rs781375358
NM_000283.4(PDE6B):c.807C>T (p.Asn269=)
NM_000283.4(PDE6B):c.80_81del (p.Leu27fs) rs1734053435
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter) rs145605739
NM_000283.4(PDE6B):c.810C>T (p.Cys270=) rs145605739
NM_000283.4(PDE6B):c.811G>C (p.Glu271Gln) rs374156343
NM_000283.4(PDE6B):c.812A>C (p.Glu271Ala) rs1365261261
NM_000283.4(PDE6B):c.812A>G (p.Glu271Gly) rs1365261261
NM_000283.4(PDE6B):c.816G>A (p.Arg272=)
NM_000283.4(PDE6B):c.821C>T (p.Ser274Phe)
NM_000283.4(PDE6B):c.827G>A (p.Gly276Asp) rs1735860141
NM_000283.4(PDE6B):c.842C>G (p.Thr281Ser)
NM_000283.4(PDE6B):c.847G>A (p.Glu283Lys)
NM_000283.4(PDE6B):c.851A>T (p.Lys284Met) rs2109193002
NM_000283.4(PDE6B):c.852+1G>A
NM_000283.4(PDE6B):c.852+6G>T rs1416587355
NM_000283.4(PDE6B):c.863_864del (p.Asp288fs) rs1412122281
NM_000283.4(PDE6B):c.864C>T (p.Asp288=)
NM_000283.4(PDE6B):c.865G>A (p.Val289Met)
NM_000283.4(PDE6B):c.865G>C (p.Val289Leu) rs377200859
NM_000283.4(PDE6B):c.86C>G (p.Pro29Arg)
NM_000283.4(PDE6B):c.876G>A (p.Val292=)
NM_000283.4(PDE6B):c.879G>C (p.Leu293=)
NM_000283.4(PDE6B):c.87T>G (p.Pro29=) rs1456167355
NM_000283.4(PDE6B):c.881T>C (p.Met294Thr) rs2109193857
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000283.4(PDE6B):c.892C>A (p.Gln298Lys) rs121918579
NM_000283.4(PDE6B):c.896C>T (p.Pro299Leu)
NM_000283.4(PDE6B):c.897G>A (p.Pro299=)
NM_000283.4(PDE6B):c.910C>T (p.Arg304Cys)
NM_000283.4(PDE6B):c.927+11G>A
NM_000283.4(PDE6B):c.927+18G>A
NM_000283.4(PDE6B):c.927+4A>C
NM_000283.4(PDE6B):c.927+7C>G
NM_000283.4(PDE6B):c.927+7C>T
NM_000283.4(PDE6B):c.927+9T>C rs2109194409
NM_000283.4(PDE6B):c.928-19_928-18insAGCAGAA rs750057276
NM_000283.4(PDE6B):c.928-9_940dup rs539992414
NM_000283.4(PDE6B):c.933T>C (p.Ile311=) rs2109199700
NM_000283.4(PDE6B):c.936C>T (p.Val312=)
NM_000283.4(PDE6B):c.940T>C (p.Tyr314His)
NM_000283.4(PDE6B):c.946G>A (p.Val316Met)
NM_000283.4(PDE6B):c.951C>T (p.Ile317=)
NM_000283.4(PDE6B):c.957_958delinsTA (p.Val320Ile)
NM_000283.4(PDE6B):c.958= (p.Val320=)
NM_000283.4(PDE6B):c.95T>A (p.Val32Glu)
NM_000283.4(PDE6B):c.973GAG[1] (p.Glu326del) rs913866737
NM_000283.4(PDE6B):c.976G>A (p.Glu326Lys)
NM_000283.4(PDE6B):c.978G>A (p.Glu326=) rs1045501559
NM_000283.4(PDE6B):c.981C>A (p.Ile327=) rs2109200115
NM_000283.4(PDE6B):c.992+1G>C rs898144119
NM_000283.4(PDE6B):c.992+32G>C rs10027549
NM_000283.4(PDE6B):c.993-49G>C rs115328178
NM_000283.4(PDE6B):c.993-4A>G rs1449054137
NM_000283.4(PDE6B):c.9C>T (p.Leu3=)

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