NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
|
rs201162411
|
0.00116
|
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His)
|
rs137853902
|
0.00071
|
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter)
|
rs201976061
|
0.00037
|
NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg)
|
rs200963831
|
0.00011
|
NM_001297.5(CNGB1):c.413-1G>A
|
rs189234741
|
0.00010
|
NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr)
|
rs368328328
|
0.00009
|
NM_001297.5(CNGB1):c.2794+1G>A
|
rs770011113
|
0.00009
|
NM_001297.5(CNGB1):c.583+2T>C
|
rs755036276
|
0.00006
|
NM_001297.5(CNGB1):c.534+1G>A
|
rs200862689
|
0.00004
|
NM_001297.5(CNGB1):c.1210-2A>G
|
rs373232101
|
0.00003
|
NM_001297.5(CNGB1):c.1643+1G>C
|
rs1356992077
|
0.00003
|
NM_001297.5(CNGB1):c.1949C>T (p.Pro650Leu)
|
rs780961773
|
0.00003
|
NM_001297.5(CNGB1):c.2893-7G>A
|
rs749199721
|
0.00003
|
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu)
|
rs745636376
|
0.00002
|
NM_001297.5(CNGB1):c.217+5G>C
|
rs527236060
|
0.00002
|
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter)
|
rs1352458826
|
0.00002
|
NM_001297.5(CNGB1):c.1122-9G>A
|
rs750225817
|
0.00001
|
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)
|
rs760373259
|
0.00001
|
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys)
|
rs771833874
|
0.00001
|
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His)
|
rs761839551
|
0.00001
|
NM_001297.5(CNGB1):c.2438C>T (p.Ser813Leu)
|
rs747258045
|
0.00001
|
NM_001297.5(CNGB1):c.2570_2571insT (p.Glu857fs)
|
rs775887058
|
0.00001
|
NM_001297.5(CNGB1):c.2582del (p.Gln861fs)
|
rs772330738
|
0.00001
|
NM_001297.5(CNGB1):c.290+2T>C
|
rs1429797650
|
0.00001
|
NM_001297.5(CNGB1):c.2977-1G>A
|
rs865818297
|
0.00001
|
NM_001297.5(CNGB1):c.2977-2del
|
rs750373166
|
0.00001
|
NM_001297.5(CNGB1):c.3095+1G>A
|
rs758524873
|
0.00001
|
NC_000016.10:g.(?_57949353)_(57950540_?)dup
|
|
|
NC_000016.9:g.(?_57931281)_(57946918_?)dup
|
|
|
NC_000016.9:g.(?_57938618)_(57957304_?)dup
|
|
|
NM_001297.5(CNGB1):c.1120_1121+2del
|
rs778884136
|
|
NM_001297.5(CNGB1):c.1121+1G>A
|
|
|
NM_001297.5(CNGB1):c.1345del (p.Ala449fs)
|
rs1596996962
|
|
NM_001297.5(CNGB1):c.1372+2T>C
|
|
|
NM_001297.5(CNGB1):c.1431C>A (p.Cys477Ter)
|
rs1468272829
|
|
NM_001297.5(CNGB1):c.1532_1535+6del
|
rs1961353527
|
|
NM_001297.5(CNGB1):c.1658C>A (p.Ala553Glu)
|
rs374424738
|
|
NM_001297.5(CNGB1):c.1881C>A (p.Cys627Ter)
|
rs369525244
|
|
NM_001297.5(CNGB1):c.1958-1G>A
|
rs888090139
|
|
NM_001297.5(CNGB1):c.1976_1980dup (p.Phe661fs)
|
|
|
NM_001297.5(CNGB1):c.2034G>A (p.Trp678Ter)
|
rs1960899756
|
|
NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter)
|
rs1210263161
|
|
NM_001297.5(CNGB1):c.2217+1G>T
|
rs2149364126
|
|
NM_001297.5(CNGB1):c.2217+2T>C
|
rs1960862003
|
|
NM_001297.5(CNGB1):c.2225del (p.Leu742fs)
|
|
|
NM_001297.5(CNGB1):c.2256T>C (p.Tyr752=)
|
|
|
NM_001297.5(CNGB1):c.2271del (p.Asn758fs)
|
rs1596974169
|
|
NM_001297.5(CNGB1):c.2285G>T (p.Arg762Leu)
|
|
|
NM_001297.5(CNGB1):c.2305-2A>G
|
rs1213265293
|
|
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys)
|
rs1286857064
|
|
NM_001297.5(CNGB1):c.2369+1G>A
|
rs756239195
|
|
NM_001297.5(CNGB1):c.2370-87_2372del
|
|
|
NM_001297.5(CNGB1):c.2524dup (p.Thr842fs)
|
rs527236061
|
|
NM_001297.5(CNGB1):c.2542_2543insA (p.Gly848fs)
|
|
|
NM_001297.5(CNGB1):c.2544del (p.Leu849fs)
|
rs760430056
|
|
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)
|
rs760430056
|
|
NM_001297.5(CNGB1):c.2567_2568del (p.Leu855_Phe856insTer)
|
|
|
NM_001297.5(CNGB1):c.257G>C (p.Arg86Pro)
|
|
|
NM_001297.5(CNGB1):c.2603dup (p.Val869fs)
|
rs2149359033
|
|
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter)
|
rs878853394
|
|
NM_001297.5(CNGB1):c.2634+2T>C
|
rs2149359022
|
|
NM_001297.5(CNGB1):c.2635-2A>T
|
rs2149358592
|
|
NM_001297.5(CNGB1):c.2676C>A (p.Tyr892Ter)
|
rs1555488573
|
|
NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs)
|
rs1064794342
|
|
NM_001297.5(CNGB1):c.290+1G>A
|
rs1167613754
|
|
NM_001297.5(CNGB1):c.2974_2976+992delinsCCCGAGGCACATGTGTGTTGACTGCATAGAGGCGGCAAAGCCTCCTAATCCGCCCCTGCTCTTGG
|
rs2149356861
|
|
NM_001297.5(CNGB1):c.2980G>T (p.Glu994Ter)
|
rs1555488069
|
|
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs)
|
rs1365926616
|
|
NM_001297.5(CNGB1):c.3131_3149dup (p.Phe1051fs)
|
rs1365926616
|
|
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs)
|
rs756806434
|
|
NM_001297.5(CNGB1):c.3307del (p.Ala1103fs)
|
|
|
NM_001297.5(CNGB1):c.412+1G>T
|
|
|
NM_001297.5(CNGB1):c.458+1G>A
|
|
|
NM_001297.5(CNGB1):c.459-2A>G
|
|
|
NM_001297.5(CNGB1):c.60del (p.Met21fs)
|
rs1962422577
|
|
NM_001297.5(CNGB1):c.622C>T (p.Gln208Ter)
|
|
|
NM_001297.5(CNGB1):c.664C>T (p.Gln222Ter)
|
rs750620302
|
|
NM_001297.5(CNGB1):c.761+2T>A
|
rs1555493707
|
|
NM_001297.5(CNGB1):c.874+2168_970del
|
|
|
NM_001297.5(CNGB1):c.973C>T (p.Gln325Ter)
|
rs1961919100
|
|
NM_001297.5:c.1536-3071_2634+31dup
|
|
|