NM_019098.4(CNGB3):c.*1881T>C
|
rs990193
|
0.91428
|
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp)
|
rs6471482
|
0.88912
|
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)
|
rs4961206
|
0.64246
|
NM_019098.4(CNGB3):c.*1639C>A
|
rs990192
|
0.58635
|
NM_019098.5(CNGB3):c.852+55C>T
|
rs3735967
|
0.39180
|
NM_019098.5(CNGB3):c.1481-145A>C
|
rs13258590
|
0.33289
|
NM_019098.4(CNGB3):c.*1638G>A
|
rs28471019
|
0.09998
|
NM_019098.5(CNGB3):c.*909_*910del
|
rs3217489
|
0.08432
|
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly)
|
rs3735972
|
0.08214
|
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=)
|
rs3735970
|
0.08211
|
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val)
|
rs13265557
|
0.05793
|
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=)
|
rs34839859
|
0.05572
|
NM_019098.5(CNGB3):c.1179-38T>C
|
rs3735969
|
0.05147
|
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln)
|
rs16916632
|
0.05057
|
NM_019098.5(CNGB3):c.1781+10A>T
|
rs7000747
|
0.05032
|
NM_019098.5(CNGB3):c.211+13T>G
|
rs66881636
|
0.04794
|
NM_019098.5(CNGB3):c.*778T>C
|
rs16915859
|
0.01933
|
NM_019098.5(CNGB3):c.*389A>C
|
rs16915861
|
0.01929
|
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys)
|
rs114305748
|
0.01886
|
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser)
|
rs35807406
|
0.01728
|
NM_019098.5(CNGB3):c.354G>T (p.Pro118=)
|
rs75858066
|
0.01037
|
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr)
|
rs35010099
|
0.00978
|
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=)
|
rs35903042
|
0.00786
|
NM_019098.5(CNGB3):c.*621G>A
|
rs116835980
|
0.00669
|
NM_019098.5(CNGB3):c.212-3T>C
|
rs79126074
|
0.00635
|
NM_019098.5(CNGB3):c.1179-6T>C
|
rs114127590
|
0.00352
|
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met)
|
rs115246141
|
0.00350
|
NM_019098.5(CNGB3):c.*29G>T
|
rs138432513
|
0.00309
|
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)
|
rs142846289
|
0.00300
|
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
|
rs35365413
|
0.00248
|
NM_019098.5(CNGB3):c.1439G>A (p.Arg480Gln)
|
rs77277189
|
0.00234
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_019098.5(CNGB3):c.*1459C>T
|
rs192543896
|
0.00178
|
NM_019098.5(CNGB3):c.1732A>T (p.Thr578Ser)
|
rs145247723
|
0.00145
|
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)
|
rs112573107
|
0.00124
|
NM_019098.4(CNGB3):c.-32T>C
|
rs376141938
|
0.00123
|
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg)
|
rs150260103
|
0.00122
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_019098.5(CNGB3):c.*1183T>C
|
rs78927155
|
0.00096
|
NM_019098.5(CNGB3):c.*125G>C
|
rs186370374
|
0.00087
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)
|
rs144637286
|
0.00070
|
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)
|
rs140286824
|
0.00065
|
NM_019098.5(CNGB3):c.494-11T>C
|
rs543970676
|
0.00062
|
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg)
|
rs146688972
|
0.00057
|
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)
|
rs141934736
|
0.00054
|
NM_019098.5(CNGB3):c.*51C>T
|
rs189210452
|
0.00051
|
NM_019098.5(CNGB3):c.2130G>A (p.Glu710=)
|
rs149271453
|
0.00043
|
NM_019098.5(CNGB3):c.1383C>T (p.Asp461=)
|
rs112847374
|
0.00039
|
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)
|
rs143131185
|
0.00036
|
NM_019098.5(CNGB3):c.*737T>C
|
rs146999298
|
0.00034
|
NM_019098.5(CNGB3):c.1936T>C (p.Leu646=)
|
rs149119556
|
0.00031
|
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)
|
rs78239264
|
0.00031
|
NM_019098.5(CNGB3):c.912C>T (p.Val304=)
|
rs117806701
|
0.00029
|
NM_019098.5(CNGB3):c.*1371G>T
|
rs372688369
|
0.00025
|
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)
|
rs186448979
|
0.00025
|
NM_019098.5(CNGB3):c.1117T>C (p.Trp373Arg)
|
rs145619853
|
0.00023
|
NM_019098.5(CNGB3):c.*798A>C
|
rs886063157
|
0.00019
|
NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter)
|
rs151039691
|
0.00019
|
NM_019098.5(CNGB3):c.1204G>T (p.Val402Phe)
|
rs139825253
|
0.00018
|
NM_019098.5(CNGB3):c.1178+6T>C
|
rs151236891
|
0.00017
|
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)
|
rs139337746
|
0.00017
|
NM_019098.5(CNGB3):c.*499G>C
|
rs540507221
|
0.00016
|
NM_019098.5(CNGB3):c.474C>T (p.Pro158=)
|
rs151230930
|
0.00016
|
NM_019098.5(CNGB3):c.*84C>T
|
rs372938106
|
0.00015
|
NM_019098.5(CNGB3):c.12G>A (p.Ser4=)
|
rs139284415
|
0.00015
|
NM_019098.5(CNGB3):c.*649A>G
|
rs778028865
|
0.00014
|
NM_019098.5(CNGB3):c.*997A>G
|
rs141428300
|
0.00014
|
NM_019098.5(CNGB3):c.2235G>C (p.Glu745Asp)
|
rs201770811
|
0.00014
|
NM_019098.5(CNGB3):c.886_890del (p.Thr296fs)
|
rs759748892
|
0.00014
|
NM_019098.5(CNGB3):c.*1470G>C
|
rs568808064
|
0.00013
|
NM_019098.5(CNGB3):c.*293T>C
|
rs141717983
|
0.00013
|
NM_019098.5(CNGB3):c.1833C>T (p.His611=)
|
rs368787128
|
0.00013
|
NM_019098.5(CNGB3):c.624C>T (p.Asn208=)
|
rs144347980
|
0.00013
|
NM_019098.5(CNGB3):c.715C>T (p.Arg239Cys)
|
rs200019416
|
0.00013
|
NM_019098.5(CNGB3):c.459A>C (p.Gly153=)
|
rs149945278
|
0.00012
|
NM_019098.5(CNGB3):c.*108C>T
|
rs1031324821
|
0.00011
|
NM_019098.5(CNGB3):c.1369G>A (p.Ala457Thr)
|
rs192568942
|
0.00011
|
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln)
|
rs377730576
|
0.00011
|
NM_019098.5(CNGB3):c.721G>A (p.Val241Ile)
|
rs138320784
|
0.00011
|
NM_019098.5(CNGB3):c.1811G>A (p.Arg604Gln)
|
rs369526115
|
0.00010
|
NM_019098.5(CNGB3):c.1149T>C (p.Thr383=)
|
rs554368357
|
0.00009
|
NM_019098.5(CNGB3):c.1367G>A (p.Arg456His)
|
rs150650617
|
0.00009
|
NM_019098.5(CNGB3):c.1982_1984dup (p.Asp661_Leu662insHis)
|
rs780866922
|
0.00009
|
NM_019098.5(CNGB3):c.2047A>C (p.Thr683Pro)
|
rs144474033
|
0.00009
|
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter)
|
rs192448853
|
0.00009
|
NM_019098.5(CNGB3):c.419G>A (p.Arg140His)
|
rs373216514
|
0.00009
|
NM_019098.5(CNGB3):c.503C>T (p.Thr168Met)
|
rs755130011
|
0.00009
|
NM_019098.5(CNGB3):c.1376T>C (p.Met459Thr)
|
rs375886578
|
0.00008
|
NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu)
|
rs190864281
|
0.00008
|
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)
|
rs373862340
|
0.00007
|
NM_019098.5(CNGB3):c.1110T>C (p.Val370=)
|
rs148884146
|
0.00007
|
NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys)
|
rs749413012
|
0.00007
|
NM_019098.5(CNGB3):c.613A>C (p.Lys205Gln)
|
rs760767009
|
0.00007
|
NM_019098.5(CNGB3):c.115C>A (p.Gln39Lys)
|
rs375530321
|
0.00006
|
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr)
|
rs150642676
|
0.00006
|
NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly)
|
rs781481819
|
0.00006
|
NM_019098.5(CNGB3):c.670C>T (p.Leu224Phe)
|
rs373286939
|
0.00006
|
NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn)
|
rs202240228
|
0.00006
|
NM_019098.5(CNGB3):c.720C>T (p.Leu240=)
|
rs770816095
|
0.00006
|
NM_019098.5(CNGB3):c.1924G>A (p.Ala642Thr)
|
rs371424750
|
0.00005
|
NM_019098.5(CNGB3):c.206T>C (p.Ile69Thr)
|
rs777636370
|
0.00005
|
NM_019098.5(CNGB3):c.2342G>A (p.Arg781His)
|
rs772444831
|
0.00005
|
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)
|
rs139207764
|
0.00005
|
NM_019098.5(CNGB3):c.968T>G (p.Phe323Cys)
|
rs759770735
|
0.00005
|
NM_019098.5(CNGB3):c.*206G>A
|
rs886063159
|
0.00004
|
NM_019098.5(CNGB3):c.*570T>C
|
rs965656666
|
0.00004
|
NM_019098.5(CNGB3):c.*731C>T
|
rs886063158
|
0.00004
|
NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr)
|
rs144605411
|
0.00004
|
NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser)
|
rs3735971
|
0.00004
|
NM_019098.5(CNGB3):c.2375C>T (p.Ala792Val)
|
rs140932384
|
0.00004
|
NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg)
|
rs753083465
|
0.00004
|
NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr)
|
rs375288585
|
0.00004
|
NM_019098.5(CNGB3):c.450G>T (p.Leu150Phe)
|
rs201881873
|
0.00004
|
NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr)
|
rs150490913
|
0.00004
|
NM_019098.5(CNGB3):c.*1476T>A
|
rs914165933
|
0.00003
|
NM_019098.5(CNGB3):c.129G>C (p.Gln43His)
|
rs773587353
|
0.00003
|
NM_019098.5(CNGB3):c.1566C>T (p.Val522=)
|
rs201787120
|
0.00003
|
NM_019098.5(CNGB3):c.1738G>A (p.Val580Ile)
|
rs1256886489
|
0.00003
|
NM_019098.5(CNGB3):c.1829C>T (p.Ala610Val)
|
rs201093395
|
0.00003
|
NM_019098.5(CNGB3):c.1834G>T (p.Gly612Trp)
|
rs201675902
|
0.00003
|
NM_019098.5(CNGB3):c.183G>A (p.Thr61=)
|
rs767130603
|
0.00003
|
NM_019098.5(CNGB3):c.2103G>C (p.Gln701His)
|
rs770214046
|
0.00003
|
NM_019098.5(CNGB3):c.489A>T (p.Gln163His)
|
rs752150266
|
0.00003
|
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)
|
rs267606739
|
0.00003
|
NM_019098.5(CNGB3):c.*183A>C
|
rs1199541859
|
0.00002
|
NM_019098.5(CNGB3):c.1126A>G (p.Asn376Asp)
|
rs754937899
|
0.00002
|
NM_019098.5(CNGB3):c.1320+4A>G
|
rs1026427970
|
0.00002
|
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter)
|
rs201320564
|
0.00002
|
NM_019098.5(CNGB3):c.1578+1G>A
|
rs372006750
|
0.00002
|
NM_019098.5(CNGB3):c.1663-1205G>A
|
rs1000861056
|
0.00002
|
NM_019098.5(CNGB3):c.221C>T (p.Ser74Phe)
|
rs762689312
|
0.00002
|
NM_019098.5(CNGB3):c.2267G>A (p.Cys756Tyr)
|
rs758659088
|
0.00002
|
NM_019098.5(CNGB3):c.475G>A (p.Glu159Lys)
|
rs777404947
|
0.00002
|
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter)
|
rs768345097
|
0.00002
|
NM_019098.5(CNGB3):c.995C>T (p.Thr332Ile)
|
rs1027900338
|
0.00002
|
NM_019098.4(CNGB3):c.*1701C>T
|
rs886063154
|
0.00001
|
NM_019098.5(CNGB3):c.*1218C>T
|
rs1054383456
|
0.00001
|
NM_019098.5(CNGB3):c.*1368T>C
|
rs886063155
|
0.00001
|
NM_019098.5(CNGB3):c.*1431G>A
|
rs1337904740
|
0.00001
|
NM_019098.5(CNGB3):c.1052A>G (p.Tyr351Cys)
|
rs777359145
|
0.00001
|
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)
|
rs764742792
|
0.00001
|
NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys)
|
rs886063160
|
0.00001
|
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs)
|
rs1389959147
|
0.00001
|
NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter)
|
rs770786127
|
0.00001
|
NM_019098.5(CNGB3):c.1255G>T (p.Glu419Ter)
|
rs372302139
|
0.00001
|
NM_019098.5(CNGB3):c.1422T>C (p.Leu474=)
|
rs908750016
|
0.00001
|
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp)
|
rs373270306
|
0.00001
|
NM_019098.5(CNGB3):c.1498A>G (p.Lys500Glu)
|
rs373679269
|
0.00001
|
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=)
|
rs751667290
|
0.00001
|
NM_019098.5(CNGB3):c.1607T>C (p.Met536Thr)
|
rs367652647
|
0.00001
|
NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn)
|
rs1410218983
|
0.00001
|
NM_019098.5(CNGB3):c.1775A>G (p.Glu592Gly)
|
rs566844518
|
0.00001
|
NM_019098.5(CNGB3):c.1778T>G (p.Ile593Ser)
|
rs780344162
|
0.00001
|
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)
|
rs200805087
|
0.00001
|
NM_019098.5(CNGB3):c.1856T>C (p.Leu619Pro)
|
rs1358482909
|
0.00001
|
NM_019098.5(CNGB3):c.1929-1G>A
|
rs750257554
|
0.00001
|
NM_019098.5(CNGB3):c.2050G>A (p.Gly684Arg)
|
rs1488638223
|
0.00001
|
NM_019098.5(CNGB3):c.2103+4A>G
|
rs762261801
|
0.00001
|
NM_019098.5(CNGB3):c.2180A>G (p.Gln727Arg)
|
rs758606162
|
0.00001
|
NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe)
|
rs750535143
|
0.00001
|
NM_019098.5(CNGB3):c.241G>A (p.Asp81Asn)
|
rs148834016
|
0.00001
|
NM_019098.5(CNGB3):c.260A>G (p.Asp87Gly)
|
rs1165080500
|
0.00001
|
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr)
|
rs1554619514
|
0.00001
|
NM_019098.5(CNGB3):c.441G>T (p.Lys147Asn)
|
rs769966310
|
0.00001
|
NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr)
|
rs1823848358
|
0.00001
|
NM_019098.5(CNGB3):c.468C>T (p.Ser156=)
|
rs1442224621
|
0.00001
|
NM_019098.5(CNGB3):c.644-1G>C
|
rs201794629
|
0.00001
|
NM_019098.5(CNGB3):c.680T>C (p.Leu227Pro)
|
rs752920111
|
0.00001
|
NM_019098.5(CNGB3):c.738C>T (p.Thr246=)
|
rs781628736
|
0.00001
|
NM_019098.5(CNGB3):c.756C>G (p.Tyr252Ter)
|
rs371318766
|
0.00001
|
NM_019098.5(CNGB3):c.768G>A (p.Ala256=)
|
rs767128005
|
0.00001
|
NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr)
|
rs886063162
|
0.00001
|
NM_019098.5(CNGB3):c.782A>G (p.Asp261Gly)
|
rs1233466909
|
0.00001
|
NM_019098.5(CNGB3):c.818C>T (p.Pro273Leu)
|
rs1466687341
|
0.00001
|
NM_019098.5(CNGB3):c.82G>A (p.Glu28Lys)
|
rs752910520
|
0.00001
|
NM_019098.5(CNGB3):c.831T>G (p.Phe277Leu)
|
rs1420784567
|
0.00001
|
NM_019098.5(CNGB3):c.852+1G>C
|
rs1201521544
|
0.00001
|
NM_019098.5(CNGB3):c.853G>A (p.Val285Met)
|
rs1042970165
|
0.00001
|
NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]
|
|
|
NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770]
|
|
|
NM_019098.4(CNGB3):c.(1578+1_1579-1)_(*1_?)del
|
|
|
NM_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del
|
|
|
NM_019098.4(CNGB3):c.(338+1_339-1)_(*1_?)del
|
|
|
NM_019098.4(CNGB3):c.(?_-1)_(129+1_130-1)del
|
|
|
NM_019098.4(CNGB3):c.*1654C>T
|
rs796676165
|
|
NM_019098.4(CNGB3):c.*1705A>C
|
rs982329960
|
|
NM_019098.4(CNGB3):c.*1733T>C
|
rs970889903
|
|
NM_019098.4(CNGB3):c.-36T>G
|
rs7812496
|
|
NM_019098.4(CNGB3):c.1430_1431delinsC (p.Lys477fs)
|
rs1554610279
|
|
NM_019098.4(CNGB3):c.1534delinsGT (p.Ile512fs)
|
rs1554609956
|
|
NM_019098.4(CNGB3):c.393_394delinsTCCTGGTGA (p.Gln131fs)
|
rs1554614423
|
|
NM_019098.4(CNGB3):c.702_706delinsGTTTTT (p.Cys234fs)
|
rs1554614024
|
|
NM_019098.4(CNGB3):c.706delinsTT (p.Ile236fs)
|
rs1554614022
|
|
NM_019098.4(CNGB3):c.852+4013_903+1698dup
|
|
|
NM_019098.4(CNGB3):c.873delinsCAAAC (p.Arg291fs)
|
rs1554612806
|
|
NM_019098.4(CNGB3):c.904-2824_1782-8208delins[KY923049.1:g.1_466]
|
|
|
NM_019098.5(CNGB3):c.*1093C>T
|
rs886063156
|
|
NM_019098.5(CNGB3):c.*1143T>C
|
rs1821625317
|
|
NM_019098.5(CNGB3):c.*1303G>A
|
rs17683284
|
|
NM_019098.5(CNGB3):c.*272G>T
|
rs1821641223
|
|
NM_019098.5(CNGB3):c.*291T>A
|
rs1821640855
|
|
NM_019098.5(CNGB3):c.*379T>G
|
rs188787381
|
|
NM_019098.5(CNGB3):c.*435G>A
|
rs964834349
|
|
NM_019098.5(CNGB3):c.*735A>G
|
rs73269601
|
|
NM_019098.5(CNGB3):c.*800C>G
|
rs1028298142
|
|
NM_019098.5(CNGB3):c.*915G>C
|
rs189446254
|
|
NM_019098.5(CNGB3):c.-1G>A
|
rs1825379377
|
|
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter)
|
rs1554611860
|
|
NM_019098.5(CNGB3):c.1013A>G (p.Asn338Ser)
|
rs548817727
|
|
NM_019098.5(CNGB3):c.1019_1020del (p.His340fs)
|
|
|
NM_019098.5(CNGB3):c.1025_1026del (p.Glu342fs)
|
|
|
NM_019098.5(CNGB3):c.1052del (p.Tyr351fs)
|
|
|
NM_019098.5(CNGB3):c.1055+1G>C
|
rs1823261605
|
|
NM_019098.5(CNGB3):c.1056-2A>G
|
rs1385347376
|
|
NM_019098.5(CNGB3):c.1056-3C>G
|
rs1554611763
|
|
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs)
|
rs1586047969
|
|
NM_019098.5(CNGB3):c.1107T>A (p.Cys369Ter)
|
|
|
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)
|
rs786204762
|
|
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter)
|
rs786204498
|
|
NM_019098.5(CNGB3):c.1131T>G (p.Tyr377Ter)
|
|
|
NM_019098.5(CNGB3):c.1155G>A (p.Trp385Ter)
|
|
|
NM_019098.5(CNGB3):c.1178+5G>T
|
rs1823236444
|
|
NM_019098.5(CNGB3):c.1178+9T>C
|
rs549858104
|
|
NM_019098.5(CNGB3):c.1179-2A>T
|
rs1057517167
|
|
NM_019098.5(CNGB3):c.1190_1192del (p.Cys397del)
|
rs765574129
|
|
NM_019098.5(CNGB3):c.1193A>G (p.Tyr398Cys)
|
rs564759960
|
|
NM_019098.5(CNGB3):c.1194T>G (p.Tyr398Ter)
|
rs775038513
|
|
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter)
|
rs376711003
|
|
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser)
|
rs1178528306
|
|
NM_019098.5(CNGB3):c.1243C>T (p.Gln415Ter)
|
rs1554610668
|
|
NM_019098.5(CNGB3):c.1260del (p.Ile420fs)
|
rs1057516866
|
|
NM_019098.5(CNGB3):c.1285del (p.Ser429fs)
|
rs776896038
|
|
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs)
|
rs776896038
|
|
NM_019098.5(CNGB3):c.129+2T>C
|
rs1554619498
|
|
NM_019098.5(CNGB3):c.1299_1300del (p.Phe434fs)
|
rs1554610655
|
|
NM_019098.5(CNGB3):c.130-1G>A
|
rs1554619303
|
|
NM_019098.5(CNGB3):c.130-1G>T
|
rs1554619303
|
|
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe)
|
rs121918344
|
|
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=)
|
rs768959472
|
|
NM_019098.5(CNGB3):c.1366del (p.Arg456fs)
|
rs1057516878
|
|
NM_019098.5(CNGB3):c.1378G>A (p.Asp460Asn)
|
rs148572872
|
|
NM_019098.5(CNGB3):c.1397T>A (p.Met466Lys)
|
rs35010099
|
|
NM_019098.5(CNGB3):c.1405del (p.Tyr469fs)
|
|
|
NM_019098.5(CNGB3):c.1426C>T (p.Gln476Ter)
|
rs1554610284
|
|
NM_019098.5(CNGB3):c.1460G>A (p.Trp487Ter)
|
rs999921351
|
|
NM_019098.5(CNGB3):c.1480+1G>A
|
rs1057516825
|
|
NM_019098.5(CNGB3):c.1481-2A>C
|
rs1554609978
|
|
NM_019098.5(CNGB3):c.1493del (p.Leu498fs)
|
rs773381712
|
|
NM_019098.5(CNGB3):c.1496_1497del (p.Leu499fs)
|
|
|
NM_019098.5(CNGB3):c.1516del (p.Val506fs)
|
rs768735888
|
|
NM_019098.5(CNGB3):c.1566_1569dup (p.Leu524fs)
|
rs1554609946
|
|
NM_019098.5(CNGB3):c.1578+1G>T
|
rs372006750
|
|
NM_019098.5(CNGB3):c.1578+2C>G
|
rs1554609943
|
|
NM_019098.5(CNGB3):c.1579-1G>A
|
rs1057516504
|
|
NM_019098.5(CNGB3):c.1579-2A>G
|
rs772725807
|
|
NM_019098.5(CNGB3):c.1619T>A (p.Leu540Ter)
|
|
|
NM_019098.5(CNGB3):c.1635T>A (p.Tyr545Ter)
|
rs1554608319
|
|
NM_019098.5(CNGB3):c.163dup (p.Thr55fs)
|
rs1057516782
|
|
NM_019098.5(CNGB3):c.1663-2137C>T
|
rs998703203
|
|
NM_019098.5(CNGB3):c.1663-2660_1781+5516del
|
|
|
NM_019098.5(CNGB3):c.1663-5T>G
|
rs964530890
|
|
NM_019098.5(CNGB3):c.1673G>T (p.Gly558Val)
|
rs1262707163
|
|
NM_019098.5(CNGB3):c.1700G>A (p.Gly567Glu)
|
rs267602029
|
|
NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val)
|
rs771889150
|
|
NM_019098.5(CNGB3):c.1751T>C (p.Leu584Pro)
|
rs1554607553
|
|
NM_019098.5(CNGB3):c.1773A>G (p.Gly591=)
|
rs1822365271
|
|
NM_019098.5(CNGB3):c.1774dup (p.Glu592fs)
|
rs1554607548
|
|
NM_019098.5(CNGB3):c.1781+1G>A
|
rs1375507464
|
|
NM_019098.5(CNGB3):c.1781+1G>C
|
rs1375507464
|
|
NM_019098.5(CNGB3):c.1781+1G>T
|
rs1375507464
|
|
NM_019098.5(CNGB3):c.1781+1del
|
rs1554607546
|
|
NM_019098.5(CNGB3):c.1782-2A>C
|
rs1554604851
|
|
NM_019098.5(CNGB3):c.1782-3723_2103+739del
|
|
|
NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe)
|
rs1554604849
|
|
NM_019098.5(CNGB3):c.1815del (p.Ala606fs)
|
rs1362472371
|
|
NM_019098.5(CNGB3):c.1823T>A (p.Val608Glu)
|
rs1554604833
|
|
NM_019098.5(CNGB3):c.1849_1850del (p.Leu617fs)
|
|
|
NM_019098.5(CNGB3):c.1883T>C (p.Leu628Pro)
|
|
|
NM_019098.5(CNGB3):c.1908del (p.Ile637fs)
|
rs1057516571
|
|
NM_019098.5(CNGB3):c.190del (p.Glu64fs)
|
rs1554619292
|
|
NM_019098.5(CNGB3):c.1928+2T>C
|
rs1057517454
|
|
NM_019098.5(CNGB3):c.1929-2A>G
|
rs1057517388
|
|
NM_019098.5(CNGB3):c.1937del (p.Leu645_Leu646insTer)
|
rs745557293
|
|
NM_019098.5(CNGB3):c.1956C>T (p.Thr652=)
|
rs767430685
|
|
NM_019098.5(CNGB3):c.2008G>T (p.Glu670Ter)
|
rs1554604775
|
|
NM_019098.5(CNGB3):c.2085del (p.Lys695fs)
|
rs1585942791
|
|
NM_019098.5(CNGB3):c.208C>T (p.Gln70Ter)
|
rs1052078370
|
|
NM_019098.5(CNGB3):c.2101C>T (p.Gln701Ter)
|
rs1554604769
|
|
NM_019098.5(CNGB3):c.2103+1G>A
|
rs1554604767
|
|
NM_019098.5(CNGB3):c.2107A>G (p.Lys703Glu)
|
rs748785588
|
|
NM_019098.5(CNGB3):c.212-2527_338+2854del
|
|
|
NM_019098.5(CNGB3):c.212-6del
|
rs745969238
|
|
NM_019098.5(CNGB3):c.2124A>G (p.Gly708=)
|
rs769689524
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[3] (p.720QKENEDK[3])
|
rs746549330
|
|
NM_019098.5(CNGB3):c.220_221del (p.Ser74fs)
|
rs1057517434
|
|
NM_019098.5(CNGB3):c.2217T>C (p.Asp739=)
|
rs1425570775
|
|
NM_019098.5(CNGB3):c.2221del (p.Asp741fs)
|
rs1554604552
|
|
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs)
|
rs199570140
|
|
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)
|
rs758914061
|
|
NM_019098.5(CNGB3):c.2328del (p.Arg777fs)
|
rs1585941011
|
|
NM_019098.5(CNGB3):c.2359del (p.Ser787fs)
|
rs1554604525
|
|
NM_019098.5(CNGB3):c.2419G>T (p.Ala807Ser)
|
rs375288585
|
|
NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr)
|
rs1821645749
|
|
NM_019098.5(CNGB3):c.257del (p.Pro86fs)
|
rs1554618420
|
|
NM_019098.5(CNGB3):c.265C>T (p.Gln89Ter)
|
rs1554618417
|
|
NM_019098.5(CNGB3):c.269del (p.Asn90fs)
|
|
|
NM_019098.5(CNGB3):c.281_284del (p.Pro94fs)
|
rs1554618413
|
|
NM_019098.5(CNGB3):c.29dup (p.Val11fs)
|
rs1442286151
|
|
NM_019098.5(CNGB3):c.301C>T (p.Gln101Ter)
|
rs1554618404
|
|
NM_019098.5(CNGB3):c.31dup (p.Val11fs)
|
rs1554619509
|
|
NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala)
|
rs778184687
|
|
NM_019098.5(CNGB3):c.339-10dup
|
rs200792506
|
|
NM_019098.5(CNGB3):c.353C>T (p.Pro118Leu)
|
rs755429797
|
|
NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu)
|
rs758681401
|
|
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)
|
rs786204492
|
|
NM_019098.5(CNGB3):c.3G>A (p.Met1Ile)
|
rs1554619513
|
|
NM_019098.5(CNGB3):c.412del (p.Arg138fs)
|
rs1057516791
|
|
NM_019098.5(CNGB3):c.442_446delinsGAAAAT (p.Lys148fs)
|
rs2131618938
|
|
NM_019098.5(CNGB3):c.445_446insT (p.Lys149fs)
|
rs1823849258
|
|
NM_019098.5(CNGB3):c.445_447delinsT (p.Lys149fs)
|
rs1554614402
|
|
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)
|
rs748993388
|
|
NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu)
|
rs1456633980
|
|
NM_019098.5(CNGB3):c.494-11del
|
rs36008065
|
|
NM_019098.5(CNGB3):c.494-11dup
|
rs36008065
|
|
NM_019098.5(CNGB3):c.494-2A>T
|
rs1554614157
|
|
NM_019098.5(CNGB3):c.494-8dup
|
rs763273522
|
|
NM_019098.5(CNGB3):c.504G>T (p.Thr168=)
|
rs751547136
|
|
NM_019098.5(CNGB3):c.556_559del (p.Arg186fs)
|
rs1057517053
|
|
NM_019098.5(CNGB3):c.567del (p.Trp189fs)
|
rs1057517052
|
|
NM_019098.5(CNGB3):c.589_590del (p.Leu197fs)
|
rs1554614131
|
|
NM_019098.5(CNGB3):c.595del (p.Glu199fs)
|
rs1823778696
|
|
NM_019098.5(CNGB3):c.59_61delinsCTGTCTCTTGTTCTCAT (p.Asn20fs)
|
|
|
NM_019098.5(CNGB3):c.643+2T>C
|
rs1391492794
|
|
NM_019098.5(CNGB3):c.643G>C (p.Asp215His)
|
rs1174949911
|
|
NM_019098.5(CNGB3):c.682dup (p.Ala228fs)
|
rs1554614038
|
|
NM_019098.5(CNGB3):c.701G>A (p.Cys234Tyr)
|
rs766852205
|
|
NM_019098.5(CNGB3):c.702T>A (p.Cys234Ter)
|
rs6471482
|
|
NM_019098.5(CNGB3):c.715C>A (p.Arg239Ser)
|
rs200019416
|
|
NM_019098.5(CNGB3):c.74G>A (p.Arg25His)
|
rs141098074
|
|
NM_019098.5(CNGB3):c.791_794del (p.Tyr264fs)
|
rs1554613998
|
|
NM_019098.5(CNGB3):c.803T>C (p.Met268Thr)
|
rs1440942177
|
|
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro)
|
rs1189928623
|
|
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
|
rs775796581
|
|
NM_019098.5(CNGB3):c.819del (p.Arg274fs)
|
rs1586003680
|
|
NM_019098.5(CNGB3):c.852+1G>T
|
rs1201521544
|
|
NM_019098.5(CNGB3):c.852+4010_903+1699dup
|
|
|
NM_019098.5(CNGB3):c.874A>T (p.Lys292Ter)
|
|
|
NM_019098.5(CNGB3):c.882C>G (p.Tyr294Ter)
|
rs1554612805
|
|
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs)
|
rs886063161
|
|
NM_019098.5(CNGB3):c.893_897del (p.Thr298fs)
|
|
|
NM_019098.5(CNGB3):c.904-2A>T
|
rs1554612159
|
|
NM_019098.5(CNGB3):c.910G>T (p.Val304Phe)
|
rs1454679758
|
|
NM_019098.5(CNGB3):c.926C>T (p.Pro309Leu)
|
rs1554612145
|
|
NM_019098.5(CNGB3):c.95dup (p.His32fs)
|
rs1554619500
|
|
NM_019098.5(CNGB3):c.969del (p.Phe323fs)
|
|
|
NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg)
|
rs1823317372
|
|
NM_019098.5(CNGB3):c.991-3T>G
|
rs773372519
|
|
NM_019098.5(CNGB3):c.[442A>G;446_447insT]
|
|
|