NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
|
rs35365413
|
0.00248
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_019098.5(CNGB3):c.886_890del (p.Thr296fs)
|
rs759748892
|
0.00014
|
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter)
|
rs192448853
|
0.00009
|
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.1578+1G>A
|
rs372006750
|
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.1306A>C (p.Ser436Arg)
|
rs748354081
|
0.00001
|
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp)
|
rs373270306
|
0.00001
|
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)
|
rs200805087
|
0.00001
|
NM_019098.5(CNGB3):c.1929-1G>A
|
rs750257554
|
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.782A>G (p.Asp261Gly)
|
rs1233466909
|
0.00001
|
NM_019098.5(CNGB3):c.903+1G>A
|
rs1440619177
|
0.00001
|
NM_019098.5(CNGB3):c.990+1G>T
|
rs763151392
|
0.00001
|
NC_000008.10:g.(?_87644970)_(87660125_?)del
|
|
|
NM_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del
|
|
|
NM_019098.4(CNGB3):c.(990+1_991-1)_(1178+1_1179-1)del
|
|
|
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.1055+2T>A
|
|
|
NM_019098.5(CNGB3):c.1098_1101dup (p.Ala368Ter)
|
rs1057518098
|
|
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.1179-2A>T
|
rs1057517167
|
|
NM_019098.5(CNGB3):c.1197T>G (p.Tyr399Ter)
|
rs1822989898
|
|
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter)
|
rs376711003
|
|
NM_019098.5(CNGB3):c.1260del (p.Ile420fs)
|
rs1057516866
|
|
NM_019098.5(CNGB3):c.1285del (p.Ser429fs)
|
rs776896038
|
|
NM_019098.5(CNGB3):c.129+1G>A
|
|
|
NM_019098.5(CNGB3):c.130-1G>A
|
rs1554619303
|
|
NM_019098.5(CNGB3):c.130-1G>T
|
rs1554619303
|
|
NM_019098.5(CNGB3):c.1320+1G>A
|
|
|
NM_019098.5(CNGB3):c.1366del (p.Arg456fs)
|
rs1057516878
|
|
NM_019098.5(CNGB3):c.1397T>A (p.Met466Lys)
|
rs35010099
|
|
NM_019098.5(CNGB3):c.1405del (p.Tyr469fs)
|
|
|
NM_019098.5(CNGB3):c.1480+1G>A
|
rs1057516825
|
|
NM_019098.5(CNGB3):c.1480+2T>C
|
|
|
NM_019098.5(CNGB3):c.1481-2A>C
|
rs1554609978
|
|
NM_019098.5(CNGB3):c.1496_1497del (p.Leu499fs)
|
|
|
NM_019098.5(CNGB3):c.1578+2C>G
|
rs1554609943
|
|
NM_019098.5(CNGB3):c.1579-1G>A
|
rs1057516504
|
|
NM_019098.5(CNGB3):c.1619T>A (p.Leu540Ter)
|
|
|
NM_019098.5(CNGB3):c.163dup (p.Thr55fs)
|
rs1057516782
|
|
NM_019098.5(CNGB3):c.1662+1G>A
|
rs1064796793
|
|
NM_019098.5(CNGB3):c.1662+2T>C
|
|
|
NM_019098.5(CNGB3):c.1663-2137C>T
|
rs998703203
|
|
NM_019098.5(CNGB3):c.1663-5T>G
|
rs964530890
|
|
NM_019098.5(CNGB3):c.1700G>A (p.Gly567Glu)
|
rs267602029
|
|
NM_019098.5(CNGB3):c.1751T>C (p.Leu584Pro)
|
rs1554607553
|
|
NM_019098.5(CNGB3):c.1774dup (p.Glu592fs)
|
rs1554607548
|
|
NM_019098.5(CNGB3):c.1781+1del
|
rs1554607546
|
|
NM_019098.5(CNGB3):c.1782-2A>C
|
rs1554604851
|
|
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.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.2008G>T (p.Glu670Ter)
|
rs1554604775
|
|
NM_019098.5(CNGB3):c.2085del (p.Lys695fs)
|
rs1585942791
|
|
NM_019098.5(CNGB3):c.2103+1G>A
|
rs1554604767
|
|
NM_019098.5(CNGB3):c.2103+1G>T
|
|
|
NM_019098.5(CNGB3):c.2103+2T>C
|
|
|
NM_019098.5(CNGB3):c.212-1G>C
|
rs1825065987
|
|
NM_019098.5(CNGB3):c.212-2A>G
|
|
|
NM_019098.5(CNGB3):c.2124del (p.Gly709fs)
|
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
NM_019098.5(CNGB3):c.2181_2184del (p.Glu729fs)
|
rs1302125467
|
|
NM_019098.5(CNGB3):c.220_221del (p.Ser74fs)
|
rs1057517434
|
|
NM_019098.5(CNGB3):c.269del (p.Asn90fs)
|
|
|
NM_019098.5(CNGB3):c.2T>A (p.Met1Lys)
|
rs1554619514
|
|
NM_019098.5(CNGB3):c.338+1G>A
|
|
|
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.445_447delinsT (p.Lys149fs)
|
rs1554614402
|
|
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)
|
rs748993388
|
|
NM_019098.5(CNGB3):c.493+1G>A
|
|
|
NM_019098.5(CNGB3):c.493+1G>C
|
rs2131618846
|
|
NM_019098.5(CNGB3):c.493+1G>T
|
|
|
NM_019098.5(CNGB3):c.556_559del (p.Arg186fs)
|
rs1057517053
|
|
NM_019098.5(CNGB3):c.567del (p.Trp189fs)
|
rs1057517052
|
|
NM_019098.5(CNGB3):c.59_61delinsCTGTCTCTTGTTCTCAT (p.Asn20fs)
|
|
|
NM_019098.5(CNGB3):c.639_643+42del
|
|
|
NM_019098.5(CNGB3):c.643+1G>A
|
|
|
NM_019098.5(CNGB3):c.643G>C (p.Asp215His)
|
rs1174949911
|
|
NM_019098.5(CNGB3):c.644-2del
|
|
|
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro)
|
rs1189928623
|
|
NM_019098.5(CNGB3):c.852+1G>T
|
rs1201521544
|
|
NM_019098.5(CNGB3):c.853-1G>T
|
rs1823456874
|
|
NM_019098.5(CNGB3):c.874A>T (p.Lys292Ter)
|
|
|
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs)
|
rs886063161
|
|
NM_019098.5(CNGB3):c.893_897del (p.Thr298fs)
|
|
|
NM_019098.5(CNGB3):c.903+1G>C
|
|
|
NM_019098.5(CNGB3):c.904-2A>C
|
rs1554612159
|
|
NM_019098.5(CNGB3):c.904-2A>T
|
rs1554612159
|
|
NM_019098.5(CNGB3):c.969del (p.Phe323fs)
|
|
|
NM_019098.5(CNGB3):c.991-1G>A
|
|
|
NM_019098.5(CNGB3):c.991-1_992del
|
rs755733512
|
|
NM_019098.5(CNGB3):c.991-1del
|
|
|
NM_019098.5(CNGB3):c.991-2A>G
|
|
|
NM_019098.5(CNGB3):c.991-3T>G
|
rs773372519
|
|