NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_019098.5(CNGB3):c.886_890del (p.Thr296fs)
|
rs759748892
|
0.00014
|
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)
|
rs373862340
|
0.00007
|
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)
|
rs139207764
|
0.00005
|
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)
|
rs267606739
|
0.00003
|
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.646C>T (p.Arg216Ter)
|
rs768345097
|
0.00002
|
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)
|
rs764742792
|
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.1579-2del
|
rs1243555074
|
0.00001
|
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)
|
rs200805087
|
0.00001
|
NM_019098.5(CNGB3):c.2011G>T (p.Glu671Ter)
|
rs761969118
|
0.00001
|
NM_019098.5(CNGB3):c.298del (p.Glu100fs)
|
rs1358283016
|
0.00001
|
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr)
|
rs1554619514
|
0.00001
|
NM_019098.5(CNGB3):c.644-1G>C
|
rs201794629
|
0.00001
|
NM_019098.5(CNGB3):c.756C>G (p.Tyr252Ter)
|
rs371318766
|
0.00001
|
NM_019098.5(CNGB3):c.852+1G>C
|
rs1201521544
|
0.00001
|
NC_000008.10:g.(?_87588022)_(87591490_?)del
|
|
|
NC_000008.10:g.(?_87588022)_(87755865_?)del
|
|
|
NC_000008.10:g.(?_87616301)_(87755855_?)del
|
|
|
NC_000008.10:g.(?_87616311)_(87641316_?)del
|
|
|
NC_000008.10:g.(?_87638201)_(87645131_?)del
|
|
|
NC_000008.10:g.(?_87666220)_(87683346_?)dup
|
|
|
NC_000008.10:g.(?_87666240)_(87683326_?)dup
|
|
|
NC_000008.10:g.(?_87679332)_(87687741_?)del
|
|
|
NC_000008.10:g.(?_87738739)_(87738905_?)del
|
|
|
NC_000008.10:g.(?_87738749)_(87755865_?)del
|
|
|
NC_000008.11:g.(?_86604083)_(86604221_?)del
|
|
|
NC_000008.11:g.(?_86654002)_(86654072_?)dup
|
|
|
NC_000008.11:g.(?_86739645)_(86743637_?)del
|
|
|
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter)
|
rs1554611860
|
|
NM_019098.5(CNGB3):c.1050_1051del (p.Tyr351fs)
|
|
|
NM_019098.5(CNGB3):c.1056-1G>A
|
|
|
NM_019098.5(CNGB3):c.1056-1G>C
|
rs2131594360
|
|
NM_019098.5(CNGB3):c.1056-2A>C
|
rs1385347376
|
|
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs)
|
rs1586047969
|
|
NM_019098.5(CNGB3):c.1098_1101dup (p.Ala368Ter)
|
rs1057518098
|
|
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.1168G>T (p.Glu390Ter)
|
rs1823236911
|
|
NM_019098.5(CNGB3):c.1197T>G (p.Tyr399Ter)
|
rs1822989898
|
|
NM_019098.5(CNGB3):c.1198del (p.Trp400fs)
|
|
|
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter)
|
rs376711003
|
|
NM_019098.5(CNGB3):c.1216_1219del (p.Ile406fs)
|
rs1585981514
|
|
NM_019098.5(CNGB3):c.1216dup (p.Ile406fs)
|
|
|
NM_019098.5(CNGB3):c.1249_1250del (p.Leu417fs)
|
|
|
NM_019098.5(CNGB3):c.1250del (p.Leu417fs)
|
rs759746961
|
|
NM_019098.5(CNGB3):c.1258_1277del (p.Ile420fs)
|
|
|
NM_019098.5(CNGB3):c.1260del (p.Ile420fs)
|
rs1057516866
|
|
NM_019098.5(CNGB3):c.126del (p.Gln43fs)
|
|
|
NM_019098.5(CNGB3):c.1285del (p.Ser429fs)
|
rs776896038
|
|
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs)
|
rs776896038
|
|
NM_019098.5(CNGB3):c.129+1del
|
|
|
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe)
|
rs121918344
|
|
NM_019098.5(CNGB3):c.1310T>G (p.Leu437Ter)
|
rs2131585371
|
|
NM_019098.5(CNGB3):c.1366del (p.Arg456fs)
|
rs1057516878
|
|
NM_019098.5(CNGB3):c.1370_1371del (p.Ala457fs)
|
rs2131582838
|
|
NM_019098.5(CNGB3):c.139A>T (p.Lys47Ter)
|
|
|
NM_019098.5(CNGB3):c.1426C>T (p.Gln476Ter)
|
rs1554610284
|
|
NM_019098.5(CNGB3):c.1440_1480+10del
|
|
|
NM_019098.5(CNGB3):c.1461G>A (p.Trp487Ter)
|
rs1822903424
|
|
NM_019098.5(CNGB3):c.1482del (p.Asp494fs)
|
|
|
NM_019098.5(CNGB3):c.1493del (p.Leu498fs)
|
rs773381712
|
|
NM_019098.5(CNGB3):c.1516del (p.Val506fs)
|
rs768735888
|
|
NM_019098.5(CNGB3):c.1519C>T (p.Gln507Ter)
|
|
|
NM_019098.5(CNGB3):c.1574_1575del (p.Leu524_Phe525insTer)
|
|
|
NM_019098.5(CNGB3):c.1576A>T (p.Lys526Ter)
|
rs2131580291
|
|
NM_019098.5(CNGB3):c.1578+1G>T
|
rs372006750
|
|
NM_019098.5(CNGB3):c.1579-1G>A
|
rs1057516504
|
|
NM_019098.5(CNGB3):c.1599_1600dup (p.Tyr534fs)
|
rs2131565806
|
|
NM_019098.5(CNGB3):c.1637T>A (p.Leu546Ter)
|
rs2131565717
|
|
NM_019098.5(CNGB3):c.1652_1655del (p.Val551fs)
|
|
|
NM_019098.5(CNGB3):c.1666G>T (p.Glu556Ter)
|
rs2131559324
|
|
NM_019098.5(CNGB3):c.1669dup (p.Ile557fs)
|
|
|
NM_019098.5(CNGB3):c.1706_1707del (p.Val569fs)
|
rs1822368895
|
|
NM_019098.5(CNGB3):c.1738del (p.Val580fs)
|
rs2131559197
|
|
NM_019098.5(CNGB3):c.1763C>A (p.Ser588Ter)
|
|
|
NM_019098.5(CNGB3):c.1774dup (p.Glu592fs)
|
rs1554607548
|
|
NM_019098.5(CNGB3):c.1781+1G>C
|
rs1375507464
|
|
NM_019098.5(CNGB3):c.1781+1del
|
rs1554607546
|
|
NM_019098.5(CNGB3):c.1815del (p.Ala606fs)
|
rs1362472371
|
|
NM_019098.5(CNGB3):c.1908del (p.Ile637fs)
|
rs1057516571
|
|
NM_019098.5(CNGB3):c.192_195dup (p.His66fs)
|
rs1825308382
|
|
NM_019098.5(CNGB3):c.1937del (p.Leu645_Leu646insTer)
|
rs745557293
|
|
NM_019098.5(CNGB3):c.1943del (p.Gln648fs)
|
|
|
NM_019098.5(CNGB3):c.2008G>T (p.Glu670Ter)
|
rs1554604775
|
|
NM_019098.5(CNGB3):c.2038del (p.Leu679_Leu680insTer)
|
|
|
NM_019098.5(CNGB3):c.208C>T (p.Gln70Ter)
|
rs1052078370
|
|
NM_019098.5(CNGB3):c.2105del (p.Lys702fs)
|
rs2131529670
|
|
NM_019098.5(CNGB3):c.2158del (p.Gln720fs)
|
|
|
NM_019098.5(CNGB3):c.2160_2163del (p.Glu722fs)
|
|
|
NM_019098.5(CNGB3):c.2168del (p.Asn723fs)
|
|
|
NM_019098.5(CNGB3):c.2179_2182del (p.Gln727fs)
|
rs1821654702
|
|
NM_019098.5(CNGB3):c.2184del (p.Glu729fs)
|
rs1302125467
|
|
NM_019098.5(CNGB3):c.220_221del (p.Ser74fs)
|
rs1057517434
|
|
NM_019098.5(CNGB3):c.223A>T (p.Lys75Ter)
|
rs1394829489
|
|
NM_019098.5(CNGB3):c.250_262del (p.Thr84fs)
|
rs2131672039
|
|
NM_019098.5(CNGB3):c.257del (p.Pro86fs)
|
rs1554618420
|
|
NM_019098.5(CNGB3):c.281_284del (p.Pro94fs)
|
rs1554618413
|
|
NM_019098.5(CNGB3):c.29dup (p.Val11fs)
|
rs1442286151
|
|
NM_019098.5(CNGB3):c.353del (p.Pro118fs)
|
|
|
NM_019098.5(CNGB3):c.357del (p.Ala120fs)
|
rs2131619089
|
|
NM_019098.5(CNGB3):c.381T>G (p.Tyr127Ter)
|
rs756986331
|
|
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)
|
rs786204492
|
|
NM_019098.5(CNGB3):c.409A>T (p.Lys137Ter)
|
|
|
NM_019098.5(CNGB3):c.412del (p.Arg138fs)
|
rs1057516791
|
|
NM_019098.5(CNGB3):c.41_42dup (p.Gly15Ter)
|
rs2131687580
|
|
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)
|
rs748993388
|
|
NM_019098.5(CNGB3):c.470C>A (p.Ser157Ter)
|
rs2131618872
|
|
NM_019098.5(CNGB3):c.552C>A (p.Tyr184Ter)
|
|
|
NM_019098.5(CNGB3):c.566G>A (p.Trp189Ter)
|
rs1458192795
|
|
NM_019098.5(CNGB3):c.567G>A (p.Trp189Ter)
|
rs1823779468
|
|
NM_019098.5(CNGB3):c.583del (p.Met195fs)
|
|
|
NM_019098.5(CNGB3):c.590T>G (p.Leu197Ter)
|
rs2131616018
|
|
NM_019098.5(CNGB3):c.595del (p.Glu199fs)
|
rs1823778696
|
|
NM_019098.5(CNGB3):c.668T>A (p.Leu223Ter)
|
rs2131615148
|
|
NM_019098.5(CNGB3):c.682dup (p.Ala228fs)
|
rs1554614038
|
|
NM_019098.5(CNGB3):c.692G>A (p.Trp231Ter)
|
|
|
NM_019098.5(CNGB3):c.701_702delinsAG (p.Cys234Ter)
|
rs1823755123
|
|
NM_019098.5(CNGB3):c.777_778del (p.Ile259fs)
|
rs1823752421
|
|
NM_019098.5(CNGB3):c.783_790dup (p.Tyr264fs)
|
|
|
NM_019098.5(CNGB3):c.787_788del (p.Ile263fs)
|
|
|
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
|
rs775796581
|
|
NM_019098.5(CNGB3):c.826C>T (p.Gln276Ter)
|
rs2131614848
|
|
NM_019098.5(CNGB3):c.839dup (p.Gly281fs)
|
rs1281085210
|
|
NM_019098.5(CNGB3):c.852+1G>T
|
rs1201521544
|
|
NM_019098.5(CNGB3):c.886A>T (p.Thr296Ser)
|
|
|
NM_019098.5(CNGB3):c.917C>A (p.Ser306Ter)
|
rs2131597459
|
|
NM_019098.5(CNGB3):c.991-3T>G
|
rs773372519
|
|