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.2549G>T (p.Gly850Val)
|
rs138315990
|
0.00098
|
NM_000440.3(PDE6A):c.2038A>G (p.Met680Val)
|
rs148598583
|
0.00094
|
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)
|
rs148938083
|
0.00069
|
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.2144T>C (p.Met715Thr)
|
rs144970068
|
0.00036
|
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.853C>A (p.Gln285Lys)
|
rs201406216
|
0.00020
|
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.1705C>A (p.Gln569Lys)
|
rs139444207
|
0.00015
|
NM_000440.3(PDE6A):c.2252C>T (p.Thr751Met)
|
rs143080578
|
0.00015
|
NM_000440.3(PDE6A):c.998C>T (p.Pro333Leu)
|
rs368428076
|
0.00014
|
NM_000440.3(PDE6A):c.594G>A (p.Val198=)
|
rs398123394
|
0.00013
|
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.2249G>A (p.Arg750His)
|
rs146145709
|
0.00010
|
NM_000440.3(PDE6A):c.277C>T (p.Arg93Cys)
|
rs200297339
|
0.00010
|
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.457G>A (p.Val153Ile)
|
rs556692354
|
0.00009
|
NM_000440.3(PDE6A):c.710G>A (p.Arg237His)
|
rs772815917
|
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.1714T>C (p.Phe572Leu)
|
rs370091675
|
0.00007
|
NM_000440.3(PDE6A):c.1051G>T (p.Ala351Ser)
|
rs768196089
|
0.00006
|
NM_000440.3(PDE6A):c.1253C>T (p.Thr418Met)
|
rs756518779
|
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.1755G>A (p.Thr585=)
|
rs139011078
|
0.00006
|
NM_000440.3(PDE6A):c.2479A>C (p.Lys827Gln)
|
rs780450680
|
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.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.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+5G>A
|
rs376233776
|
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.2240A>G (p.Asp747Gly)
|
rs766135543
|
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.363_365del (p.Glu122del)
|
rs758028794
|
0.00004
|
NM_000440.3(PDE6A):c.412A>G (p.Met138Val)
|
rs746179949
|
0.00004
|
NM_000440.3(PDE6A):c.623A>G (p.Glu208Gly)
|
rs752916121
|
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.1255C>T (p.Leu419Phe)
|
rs141370975
|
0.00003
|
NM_000440.3(PDE6A):c.1602A>T (p.Lys534Asn)
|
rs1352884400
|
0.00003
|
NM_000440.3(PDE6A):c.1928G>T (p.Ser643Ile)
|
rs578228152
|
0.00003
|
NM_000440.3(PDE6A):c.397G>A (p.Val133Ile)
|
rs768596256
|
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.85C>T (p.Arg29Trp)
|
rs201025404
|
0.00003
|
NM_000440.3(PDE6A):c.1310A>G (p.Tyr437Cys)
|
rs765974352
|
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.1736A>G (p.Lys579Arg)
|
rs368690470
|
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.2152G>A (p.Ala718Thr)
|
rs545847713
|
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.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.545T>A (p.Ile182Lys)
|
rs773613457
|
0.00002
|
NM_000440.3(PDE6A):c.549G>T (p.Met183Ile)
|
rs770121117
|
0.00002
|
NM_000440.3(PDE6A):c.713G>A (p.Gly238Asp)
|
rs572067661
|
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.1046A>T (p.Tyr349Phe)
|
rs776115440
|
0.00001
|
NM_000440.3(PDE6A):c.110T>C (p.Leu37Pro)
|
rs371269459
|
0.00001
|
NM_000440.3(PDE6A):c.1113+5G>A
|
rs539563649
|
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.1243A>G (p.Met415Val)
|
rs754379939
|
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.1407G>C (p.Leu469Phe)
|
rs727504073
|
0.00001
|
NM_000440.3(PDE6A):c.1472T>A (p.Leu491Gln)
|
rs1257912454
|
0.00001
|
NM_000440.3(PDE6A):c.1478C>T (p.Ala493Val)
|
rs373624745
|
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.1620G>A (p.Glu540=)
|
rs727504072
|
0.00001
|
NM_000440.3(PDE6A):c.1654G>T (p.Gly552Cys)
|
rs1365595687
|
0.00001
|
NM_000440.3(PDE6A):c.1730C>T (p.Thr577Met)
|
rs765007196
|
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.197G>A (p.Arg66Gln)
|
rs753177050
|
0.00001
|
NM_000440.3(PDE6A):c.1997T>A (p.Ile666Asn)
|
rs1472501176
|
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.2170A>G (p.Ile724Val)
|
rs755688626
|
0.00001
|
NM_000440.3(PDE6A):c.2254G>A (p.Val752Met)
|
rs536549575
|
0.00001
|
NM_000440.3(PDE6A):c.2350G>A (p.Val784Ile)
|
rs746482403
|
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.2435T>C (p.Leu812Pro)
|
rs777373238
|
0.00001
|
NM_000440.3(PDE6A):c.2578C>T (p.Gln860Ter)
|
rs1357199744
|
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.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.755T>C (p.Leu252Pro)
|
rs1394948262
|
0.00001
|
NM_000440.3(PDE6A):c.858G>A (p.Lys286=)
|
rs1284884737
|
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.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.(?_149277906)_(149301292_?)del
|
|
|
NC_000005.9:g.(?_149278079)_(149280940_?)del
|
|
|
NC_000005.9:g.(?_149301178)_(149301292_?)del
|
|
|
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.1057A>G (p.Asn353Asp)
|
rs1561751067
|
|
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.1114-9_1114-5del
|
rs1561737370
|
|
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.1156C>T (p.Leu386Phe)
|
rs1247715440
|
|
NM_000440.3(PDE6A):c.1166C>G (p.Pro389Arg)
|
|
|
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.1256T>A (p.Leu419His)
|
rs1056149139
|
|
NM_000440.3(PDE6A):c.1261G>C (p.Glu421Gln)
|
|
|
NM_000440.3(PDE6A):c.1264-3C>G
|
rs1752843025
|
|
NM_000440.3(PDE6A):c.1307C>A (p.Thr436Asn)
|
rs2113592754
|
|
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.1399A>C (p.Lys467Gln)
|
|
|
NM_000440.3(PDE6A):c.1411A>C (p.Thr471Pro)
|
rs2113588157
|
|
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.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.1490A>G (p.Asp497Gly)
|
|
|
NM_000440.3(PDE6A):c.1520A>G (p.His507Arg)
|
|
|
NM_000440.3(PDE6A):c.1546C>A (p.Leu516Met)
|
rs61733362
|
|
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.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.159C>A (p.Ser53Arg)
|
rs762456548
|
|
NM_000440.3(PDE6A):c.1610T>C (p.Ile537Thr)
|
rs1581177868
|
|
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.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.1651A>G (p.Lys551Glu)
|
rs1013117871
|
|
NM_000440.3(PDE6A):c.1660C>T (p.Arg554Cys)
|
|
|
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.1708A>G (p.Thr570Ala)
|
rs1348047863
|
|
NM_000440.3(PDE6A):c.1718C>A (p.Ser573Tyr)
|
|
|
NM_000440.3(PDE6A):c.1728+4T>C
|
rs794727089
|
|
NM_000440.3(PDE6A):c.1728G>A (p.Val576=)
|
rs2113582178
|
|
NM_000440.3(PDE6A):c.173G>A (p.Ser58Asn)
|
rs769487994
|
|
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.1754_1755delinsTT (p.Thr585Ile)
|
rs1752304250
|
|
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.1816A>T (p.Thr606Ser)
|
|
|
NM_000440.3(PDE6A):c.1826T>C (p.Leu609Pro)
|
|
|
NM_000440.3(PDE6A):c.1855G>C (p.Ala619Pro)
|
rs1752223184
|
|
NM_000440.3(PDE6A):c.1866T>G (p.His622Gln)
|
|
|
NM_000440.3(PDE6A):c.1867G>T (p.Gly623Trp)
|
|
|
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.1923C>G (p.Asp641Glu)
|
rs758696476
|
|
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.1965T>G (p.His655Gln)
|
rs753303277
|
|
NM_000440.3(PDE6A):c.1966G>C (p.Glu656Gln)
|
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.1997T>C (p.Ile666Thr)
|
rs1472501176
|
|
NM_000440.3(PDE6A):c.199G>A (p.Asp67Asn)
|
rs139198490
|
|
NM_000440.3(PDE6A):c.2027+5G>A
|
rs794727166
|
|
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.2036C>G (p.Thr679Arg)
|
rs147017310
|
|
NM_000440.3(PDE6A):c.2036C>T (p.Thr679Met)
|
rs147017310
|
|
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.2120G>A (p.Arg707Gln)
|
|
|
NM_000440.3(PDE6A):c.2135+5G>A
|
rs2113549054
|
|
NM_000440.3(PDE6A):c.2177A>T (p.Lys726Ile)
|
rs1189428579
|
|
NM_000440.3(PDE6A):c.218A>G (p.Gln73Arg)
|
|
|
NM_000440.3(PDE6A):c.2230G>A (p.Glu744Lys)
|
|
|
NM_000440.3(PDE6A):c.2239G>T (p.Asp747Tyr)
|
rs993342286
|
|
NM_000440.3(PDE6A):c.2249G>C (p.Arg750Pro)
|
|
|
NM_000440.3(PDE6A):c.2269C>T (p.Pro757Ser)
|
|
|
NM_000440.3(PDE6A):c.2274+5G>A
|
|
|
NM_000440.3(PDE6A):c.2274+5G>C
|
rs1760382600
|
|
NM_000440.3(PDE6A):c.2296G>A (p.Ala766Thr)
|
|
|
NM_000440.3(PDE6A):c.2297C>G (p.Ala766Gly)
|
rs752929833
|
|
NM_000440.3(PDE6A):c.2321T>G (p.Val774Gly)
|
rs1760326181
|
|
NM_000440.3(PDE6A):c.2338G>A (p.Val780Ile)
|
|
|
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.2417G>A (p.Arg806His)
|
rs145718445
|
|
NM_000440.3(PDE6A):c.2473G>T (p.Glu825Ter)
|
|
|
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.2506G>C (p.Ala836Pro)
|
rs2113494553
|
|
NM_000440.3(PDE6A):c.2507-1G>T
|
|
|
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.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.2575A>T (p.Ile859Phe)
|
|
|
NM_000440.3(PDE6A):c.270G>T (p.Gln90His)
|
|
|
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.287T>A (p.Leu96Gln)
|
rs2113673388
|
|
NM_000440.3(PDE6A):c.299G>T (p.Arg100Leu)
|
rs199738915
|
|
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
|
rs141252097
|
|
NM_000440.3(PDE6A):c.321G>C (p.Glu107Asp)
|
|
|
NM_000440.3(PDE6A):c.331_332delinsCA (p.Arg111Gln)
|
|
|
NM_000440.3(PDE6A):c.351G>C (p.Lys117Asn)
|
|
|
NM_000440.3(PDE6A):c.385G>A (p.Asp129Asn)
|
rs577079672
|
|
NM_000440.3(PDE6A):c.406T>A (p.Leu136Met)
|
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.460C>T (p.Pro154Ser)
|
rs1448494474
|
|
NM_000440.3(PDE6A):c.474+3A>T
|
rs2113673014
|
|
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.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.722T>G (p.Leu241Arg)
|
rs2113656507
|
|
NM_000440.3(PDE6A):c.731C>T (p.Ser244Phe)
|
rs2113656491
|
|
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.758C>A (p.Thr253Lys)
|
rs778857421
|
|
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.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.81C>A (p.His27Gln)
|
rs1212652682
|
|
NM_000440.3(PDE6A):c.820A>G (p.Arg274Gly)
|
rs942365236
|
|
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.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.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.910G>T (p.Gly304Cys)
|
rs769712698
|
|
NM_000440.3(PDE6A):c.922C>A (p.Pro308Thr)
|
rs2113640773
|
|
NM_000440.3(PDE6A):c.927T>G (p.Asp309Glu)
|
|
|
NM_000440.3(PDE6A):c.933+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.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)
|
|
|