NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
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.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
NM_025114.4(CEP290):c.1190-2A>G
|
rs200818935
|
0.00001
|
NM_025114.4(CEP290):c.181-2A>G
|
rs886042359
|
0.00001
|
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
|
rs762633090
|
0.00001
|
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)
|
rs752144368
|
0.00001
|
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)
|
rs1267970567
|
0.00001
|
NM_025114.4(CEP290):c.3309+2T>C
|
rs1007902545
|
0.00001
|
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)
|
rs746305733
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)
|
rs1375836634
|
0.00001
|
NM_025114.4(CEP290):c.102+2T>A
|
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
|
|
|
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)
|
rs2138021345
|
|
NM_025114.4(CEP290):c.1169dup (p.Asn390fs)
|
|
|
NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)
|
|
|
NM_025114.4(CEP290):c.1225del (p.Ile409fs)
|
rs1287628446
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.1258dup (p.Thr420fs)
|
rs868650061
|
|
NM_025114.4(CEP290):c.1347dup (p.Asp450fs)
|
rs774490795
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)
|
rs1437841365
|
|
NM_025114.4(CEP290):c.1397_1400del (p.Lys466fs)
|
|
|
NM_025114.4(CEP290):c.1439_1450delinsG (p.Glu480fs)
|
|
|
NM_025114.4(CEP290):c.1453dup (p.Glu485fs)
|
|
|
NM_025114.4(CEP290):c.1471_1475del (p.Leu491fs)
|
|
|
NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter)
|
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1516del (p.Arg506fs)
|
|
|
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer)
|
|
|
NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)
|
|
|
NM_025114.4(CEP290):c.1668del (p.Arg557fs)
|
rs2039204524
|
|
NM_025114.4(CEP290):c.1824+1G>A
|
|
|
NM_025114.4(CEP290):c.1835_1838del (p.Leu612fs)
|
|
|
NM_025114.4(CEP290):c.1909+1G>T
|
|
|
NM_025114.4(CEP290):c.1914del (p.Glu639fs)
|
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)
|
rs1440259390
|
|
NM_025114.4(CEP290):c.2176del (p.Ala726fs)
|
|
|
NM_025114.4(CEP290):c.2217+2T>C
|
rs2038702746
|
|
NM_025114.4(CEP290):c.2217+2T>G
|
|
|
NM_025114.4(CEP290):c.2218-2A>G
|
|
|
NM_025114.4(CEP290):c.2304del (p.Gly768_Ile769insTer)
|
|
|
NM_025114.4(CEP290):c.2355dup (p.His786fs)
|
|
|
NM_025114.4(CEP290):c.2389_2390del (p.Lys797fs)
|
|
|
NM_025114.4(CEP290):c.2404_2433delinsAC (p.Glu802fs)
|
|
|
NM_025114.4(CEP290):c.2433del (p.Lys811fs)
|
rs2137663442
|
|
NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)
|
|
|
NM_025114.4(CEP290):c.2510del (p.Ser837fs)
|
|
|
NM_025114.4(CEP290):c.2586+1G>A
|
|
|
NM_025114.4(CEP290):c.2587-1G>T
|
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.2632dup (p.Ile878fs)
|
|
|
NM_025114.4(CEP290):c.2794dup (p.Ile932fs)
|
|
|
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs)
|
rs2040497202
|
|
NM_025114.4(CEP290):c.2933del (p.Asp978fs)
|
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
NM_025114.4(CEP290):c.2991+1G>A
|
|
|
NM_025114.4(CEP290):c.2992-1G>A
|
|
|
NM_025114.4(CEP290):c.3104-2A>G
|
rs773386777
|
|
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter)
|
rs1555212271
|
|
NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter)
|
|
|
NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)
|
|
|
NM_025114.4(CEP290):c.3234_3235del (p.Lys1078fs)
|
|
|
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)
|
rs2036977924
|
|
NM_025114.4(CEP290):c.3596del (p.Leu1199fs)
|
|
|
NM_025114.4(CEP290):c.3606_3615del (p.Lys1202fs)
|
|
|
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)
|
|
|
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)
|
|
|
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs)
|
rs2137276301
|
|
NM_025114.4(CEP290):c.3750_3753delinsA (p.Tyr1250_Tyr1251delinsTer)
|
|
|
NM_025114.4(CEP290):c.3783del (p.Lys1261fs)
|
rs2036833257
|
|
NM_025114.4(CEP290):c.3799del (p.Ile1267fs)
|
|
|
NM_025114.4(CEP290):c.3825_3829del (p.Gly1276fs)
|
|
|
NM_025114.4(CEP290):c.3897_3901del (p.Lys1299fs)
|
|
|
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
|
|
|
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)
|
rs2036816455
|
|
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
|
|
|
NM_025114.4(CEP290):c.4033del (p.Ile1345fs)
|
|
|
NM_025114.4(CEP290):c.4081_4084del (p.Leu1361fs)
|
|
|
NM_025114.4(CEP290):c.4348_4356delinsTC (p.Pro1450fs)
|
|
|
NM_025114.4(CEP290):c.441+1G>C
|
|
|
NM_025114.4(CEP290):c.4704+1G>T
|
rs1565835538
|
|
NM_025114.4(CEP290):c.476del (p.Asn159fs)
|
|
|
NM_025114.4(CEP290):c.4771del (p.Gln1591fs)
|
|
|
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
|
|
|
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
|
|
|
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)
|
|
|
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs)
|
rs2036306894
|
|
NM_025114.4(CEP290):c.5012+1G>A
|
|
|
NM_025114.4(CEP290):c.5012+2T>G
|
|
|
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
|
|
|
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs)
|
rs766259648
|
|
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs)
|
rs995093343
|
|
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
|
|
|
NM_025114.4(CEP290):c.5192dup (p.Ser1732fs)
|
|
|
NM_025114.4(CEP290):c.5223_5224del (p.Lys1742fs)
|
|
|
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs)
|
rs775969711
|
|
NM_025114.4(CEP290):c.5242del (p.Leu1748fs)
|
|
|
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)
|
rs748471942
|
|
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter)
|
rs2039993548
|
|
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
|
|
|
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs)
|
rs754728136
|
|
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
|
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs)
|
rs2136964385
|
|
NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter)
|
|
|
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
|
|
|
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)
|
rs886042360
|
|
NM_025114.4(CEP290):c.5822del (p.Lys1941fs)
|
|
|
NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)
|
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.5855+1G>A
|
|
|
NM_025114.4(CEP290):c.5855+2T>G
|
|
|
NM_025114.4(CEP290):c.5953del (p.Glu1985fs)
|
|
|
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)
|
rs2035358840
|
|
NM_025114.4(CEP290):c.5972del (p.Lys1991fs)
|
rs1468269366
|
|
NM_025114.4(CEP290):c.6011+2T>G
|
|
|
NM_025114.4(CEP290):c.6138_6139delinsC (p.Ser2047fs)
|
|
|
NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)
|
|
|
NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)
|
|
|
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)
|
|
|
NM_025114.4(CEP290):c.626del (p.Ser209fs)
|
|
|
NM_025114.4(CEP290):c.6270+1G>T
|
|
|
NM_025114.4(CEP290):c.6270+2T>C
|
|
|
NM_025114.4(CEP290):c.635dup (p.Asn212fs)
|
rs769091629
|
|
NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter)
|
rs1555197766
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6487dup (p.Met2163fs)
|
rs2136748724
|
|
NM_025114.4(CEP290):c.6490del (p.Ala2164fs)
|
|
|
NM_025114.4(CEP290):c.6516del (p.Lys2172fs)
|
rs1057519165
|
|
NM_025114.4(CEP290):c.6624del (p.Arg2208fs)
|
rs2136725569
|
|
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)
|
rs2034232539
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.6831del (p.Lys2278fs)
|
|
|
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
|
|
|
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)
|
rs2033937635
|
|
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)
|
rs1177923180
|
|
NM_025114.4(CEP290):c.6927del (p.Val2310fs)
|
|
|
NM_025114.4(CEP290):c.6928dup (p.Val2310fs)
|
|
|
NM_025114.4(CEP290):c.6933del (p.Asn2311fs)
|
|
|
NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)
|
|
|
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
|
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7157_7158del (p.Lys2386fs)
|
|
|
NM_025114.4(CEP290):c.7162_7163del (p.Leu2388fs)
|
|
|
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
|
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7209+1G>A
|
|
|
NM_025114.4(CEP290):c.833del (p.Asn278fs)
|
|
|
NM_025114.4(CEP290):c.853-2A>G
|
|
|
NM_025114.4(CEP290):c.942+1G>C
|
rs2039897317
|
|