NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)
|
rs139444207
|
0.00015
|
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.305G>A (p.Arg102His)
|
rs750539462
|
0.00004
|
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)
|
rs146591309
|
0.00004
|
NM_000440.3(PDE6A):c.998+1G>A
|
rs748946491
|
0.00003
|
NM_000440.3(PDE6A):c.1407+1G>C
|
rs781616522
|
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.1684C>T (p.Arg562Trp)
|
rs759589388
|
0.00001
|
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)
|
rs121918576
|
0.00001
|
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)
|
rs753942596
|
0.00001
|
NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter)
|
rs759563967
|
0.00001
|
NM_000440.3(PDE6A):c.2426G>A (p.Trp809Ter)
|
rs979416907
|
0.00001
|
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.(?_149294486)_(149294590_?)del
|
|
|
NC_000005.9:g.(?_149294506)_(149294570_?)del
|
|
|
NM_000440.3(PDE6A):c.1010del (p.Pro337fs)
|
|
|
NM_000440.3(PDE6A):c.1065+1G>T
|
|
|
NM_000440.3(PDE6A):c.1065+2T>A
|
rs1554090012
|
|
NM_000440.3(PDE6A):c.1117G>T (p.Glu373Ter)
|
rs2113595869
|
|
NM_000440.3(PDE6A):c.1263+1G>A
|
rs369896113
|
|
NM_000440.3(PDE6A):c.1263+1G>T
|
rs369896113
|
|
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.1311T>A (p.Tyr437Ter)
|
|
|
NM_000440.3(PDE6A):c.1359dup (p.Val454fs)
|
|
|
NM_000440.3(PDE6A):c.1363A>T (p.Lys455Ter)
|
|
|
NM_000440.3(PDE6A):c.1538del (p.Leu513fs)
|
|
|
NM_000440.3(PDE6A):c.1561del (p.Cys521fs)
|
rs2113586514
|
|
NM_000440.3(PDE6A):c.1600A>T (p.Lys534Ter)
|
|
|
NM_000440.3(PDE6A):c.1651_1652insCATG (p.Lys551delinsThrTer)
|
rs1295637847
|
|
NM_000440.3(PDE6A):c.1664del (p.Lys555fs)
|
rs2113582639
|
|
NM_000440.3(PDE6A):c.1724T>C (p.Leu575Pro)
|
rs759537984
|
|
NM_000440.3(PDE6A):c.1843C>T (p.Gln615Ter)
|
rs1752223896
|
|
NM_000440.3(PDE6A):c.1926+1G>A
|
rs794727139
|
|
NM_000440.3(PDE6A):c.192_202del (p.Leu65fs)
|
|
|
NM_000440.3(PDE6A):c.1937del (p.Ile646fs)
|
|
|
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs)
|
rs773065850
|
|
NM_000440.3(PDE6A):c.1966G>T (p.Glu656Ter)
|
rs199871385
|
|
NM_000440.3(PDE6A):c.1989dup (p.Ile664fs)
|
rs2113553528
|
|
NM_000440.3(PDE6A):c.2036del (p.Thr679fs)
|
rs2113549546
|
|
NM_000440.3(PDE6A):c.2118del (p.Arg707fs)
|
rs1761006182
|
|
NM_000440.3(PDE6A):c.2206dup (p.Leu736fs)
|
|
|
NM_000440.3(PDE6A):c.221_224del (p.Thr74fs)
|
|
|
NM_000440.3(PDE6A):c.2263C>T (p.Gln755Ter)
|
rs2113507459
|
|
NM_000440.3(PDE6A):c.2306del (p.Leu769fs)
|
rs2113503448
|
|
NM_000440.3(PDE6A):c.2316_2317delinsAT (p.Gln773Ter)
|
rs2113503389
|
|
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)
|
rs754012367
|
|
NM_000440.3(PDE6A):c.2346dup (p.Phe783fs)
|
rs2113503234
|
|
NM_000440.3(PDE6A):c.2358+1G>A
|
|
|
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)
|
rs767540194
|
|
NM_000440.3(PDE6A):c.286del (p.Leu96fs)
|
rs1270005492
|
|
NM_000440.3(PDE6A):c.291del (p.Phe97fs)
|
rs2113673375
|
|
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.676del (p.His226fs)
|
|
|
NM_000440.3(PDE6A):c.715C>T (p.Gln239Ter)
|
|
|
NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter)
|
rs1754021035
|
|
NM_000440.3(PDE6A):c.823_824del (p.Tyr275fs)
|
|
|