NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)
|
rs1267970567
|
0.00001
|
NM_025114.4(CEP290):c.4029G>A (p.Lys1343=)
|
rs1057519245
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.1A>G (p.Met1Val)
|
rs2040644756
|
|
NM_025114.4(CEP290):c.2351T>A (p.Leu784Ter)
|
rs1206723575
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.2682dup (p.Ser895fs)
|
rs1555216730
|
|
NM_025114.4(CEP290):c.268A>T (p.Lys90Ter)
|
rs1057517886
|
|
NM_025114.4(CEP290):c.297+3A>G
|
|
|
NM_025114.4(CEP290):c.3012del (p.Glu1005fs)
|
rs1555213204
|
|
NM_025114.4(CEP290):c.3097A>T (p.Lys1033Ter)
|
rs1555213161
|
|
NM_025114.4(CEP290):c.3190del (p.Glu1063_Met1064insTer)
|
rs786205620
|
|
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs)
|
rs778407127
|
|
NM_025114.4(CEP290):c.3355del (p.Arg1119fs)
|
|
|
NM_025114.4(CEP290):c.3574-2A>G
|
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.3777_3778del (p.Arg1259fs)
|
rs765483163
|
|
NM_025114.4(CEP290):c.3784_3785insTT (p.His1262fs)
|
rs1064797171
|
|
NM_025114.4(CEP290):c.4029+1G>A
|
rs2036808766
|
|
NM_025114.4(CEP290):c.4636C>T (p.Gln1546Ter)
|
|
|
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
|
rs757309583
|
|
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)
|
rs1292516576
|
|
NM_025114.4(CEP290):c.5740G>T (p.Glu1914Ter)
|
rs2035405646
|
|
NM_025114.4(CEP290):c.6135+2T>A
|
rs1555200648
|
|
NM_025114.4(CEP290):c.628A>T (p.Lys210Ter)
|
rs763473957
|
|
NM_025114.4(CEP290):c.6516del (p.Lys2172fs)
|
rs1057519165
|
|
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
|
|
|
NM_025114.4(CEP290):c.6919_6920dup (p.Gln2308fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.7048C>A (p.Gln2350Lys)
|
rs375548374
|
|
NM_025114.4(CEP290):c.739_740del (p.Val247fs)
|
rs1592671618
|
|