Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68438293A= | CA1140725761 | RPE65 | c.1022T= (p.Leu341=) c.746T= (p.Leu249=) | |
1 | g.68438293A>C | CA340744389 | RPE65 | c.1022T>G (p.Leu341Ter) c.746T>G (p.Leu249Ter) | |
1 | g.68438293A>G | CA226472 | RPE65 | c.1022T>C (p.Leu341Ser) c.746T>C (p.Leu249Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.68438293A>T | CA340744392 | RPE65 | c.1022T>A (p.Leu341Ter) c.746T>A (p.Leu249Ter) | COSMIC |
1 | g.68438294A>C | CA340744393 | RPE65 | c.1021T>G (p.Leu341Val) c.745T>G (p.Leu249Val) | |
1 | g.68438294A>G | CA418279234 | RPE65 | c.1021T>C (p.Leu341=) c.745T>C (p.Leu249=) | |
1 | g.68438294A>T | CA340744395 | RPE65 | c.1021T>A (p.Leu341Ile) c.745T>A (p.Leu249Ile) | |
1 | g.68438295G>A | CA418279236 | RPE65 | c.1020C>T (p.Tyr340=) c.744C>T (p.Tyr248=) | ClinVar dbSNP gnomAD v4 |
1 | g.68438295G>C | CA340744399 | RPE65 | c.1020C>G (p.Tyr340Ter) c.744C>G (p.Tyr248Ter) | |
1 | g.68438295G>T | CA340744397 | RPE65 | c.1020C>A (p.Tyr340Ter) c.744C>A (p.Tyr248Ter) | COSMIC |
1 | g.68438296T>A | CA340744402 | RPE65 | c.1019A>T (p.Tyr340Phe) c.743A>T (p.Tyr248Phe) | gnomAD v4 |
1 | g.68438296T>C | CA340744403 | RPE65 | c.1019A>G (p.Tyr340Cys) c.743A>G (p.Tyr248Cys) | |
1 | g.68438296T>G | CA340744405 | RPE65 | c.1019A>C (p.Tyr340Ser) c.743A>C (p.Tyr248Ser) | |
1 | g.68438299_68438304del | CA2744001092 | RPE65 | c.1014_1019del (p.Asn339_Tyr340del) c.738_743del (p.Asn247_Tyr248del) | |
1 | g.68438297A>C | CA340744406 | RPE65 | c.1018T>G (p.Tyr340Asp) c.742T>G (p.Tyr248Asp) | |
1 | g.68438297A>G | CA340744408 | RPE65 | c.1018T>C (p.Tyr340His) c.742T>C (p.Tyr248His) | |
1 | g.68438297A>T | CA340744410 | RPE65 | c.1018T>A (p.Tyr340Asn) c.742T>A (p.Tyr248Asn) | |
1 | g.68438298A= | CA1173560869 | RPE65 | c.1017T= (p.Asn339=) c.741T= (p.Asn247=) | |
1 | g.68438298A>C | CA340744412 | RPE65 | c.1017T>G (p.Asn339Lys) c.741T>G (p.Asn247Lys) | |
1 | g.68438298A>G | CA23569536 | RPE65 | c.1017T>C (p.Asn339=) c.741T>C (p.Asn247=) | ClinVar dbSNP gnomAD v4 |
1 | g.68438298A>T | CA340744415 | RPE65 | c.1017T>A (p.Asn339Lys) c.741T>A (p.Asn247Lys) | |
1 | g.68438299T>A | CA340744417 | RPE65 | c.1016A>T (p.Asn339Ile) c.740A>T (p.Asn247Ile) | |
1 | g.68438299T>C | CA902312 | RPE65 | c.1016A>G (p.Asn339Ser) c.740A>G (p.Asn247Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68438299T>G | CA902313 | RPE65 | c.1016A>C (p.Asn339Thr) c.740A>C (p.Asn247Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68438299T= | CA1173560870 | RPE65 | c.1016A= (p.Asn339=) c.740A= (p.Asn247=) | |
1 | g.68438300T>A | CA340744425 | RPE65 | c.1015A>T (p.Asn339Tyr) c.739A>T (p.Asn247Tyr) | |
1 | g.68438300T>C | CA340744423 | RPE65 | c.1015A>G (p.Asn339Asp) c.739A>G (p.Asn247Asp) | gnomAD v4 |
1 | g.68438300T>G | CA340744421 | RPE65 | c.1015A>C (p.Asn339His) c.739A>C (p.Asn247His) | gnomAD v4 |
1 | g.68438301A= | CA1173560871 | RPE65 | c.1014T= (p.Tyr338=) c.738T= (p.Tyr246=) | |
1 | g.68438301A>C | CA340744427 | RPE65 | c.1014T>G (p.Tyr338Ter) c.738T>G (p.Tyr246Ter) | |
1 | g.68438301A>G | CA902314 | RPE65 | c.1014T>C (p.Tyr338=) c.738T>C (p.Tyr246=) | dbSNP ExAC gnomAD v2 |
1 | g.68438301A>T | CA340744429 | RPE65 | c.1014T>A (p.Tyr338Ter) c.738T>A (p.Tyr246Ter) | |
1 | g.68438302T>A | CA340744432 | RPE65 | c.1013A>T (p.Tyr338Phe) c.737A>T (p.Tyr246Phe) | |
1 | g.68438302T>C | CA340744434 | RPE65 | c.1013A>G (p.Tyr338Cys) c.737A>G (p.Tyr246Cys) | ClinVar dbSNP gnomAD v4 |
1 | g.68438302T>G | CA340744436 | RPE65 | c.1013A>C (p.Tyr338Ser) c.737A>C (p.Tyr246Ser) | |
1 | g.68438302T= | CA1173560872 | RPE65 | c.1013A= (p.Tyr338=) c.737A= (p.Tyr246=) | |
1 | g.68438303A= | CA1173560873 | RPE65 | c.1012T= (p.Tyr338=) c.736T= (p.Tyr246=) | |
1 | g.68438303A>C | CA340744438 | RPE65 | c.1012T>G (p.Tyr338Asp) c.736T>G (p.Tyr246Asp) | dbSNP |
1 | g.68438303A>G | CA340744439 | RPE65 | c.1012T>C (p.Tyr338His) c.736T>C (p.Tyr246His) | |
1 | g.68438303A>T | CA340744441 | RPE65 | c.1012T>A (p.Tyr338Asn) c.736T>A (p.Tyr246Asn) | |
1 | g.68438304A>C | CA418279239 | RPE65 | c.1011T>G (p.Val337=) c.735T>G (p.Val245=) | |
1 | g.68438304A>G | CA418279240 | RPE65 | c.1011T>C (p.Val337=) c.735T>C (p.Val245=) | |
1 | g.68438304A>T | CA418279241 | RPE65 | c.1011T>A (p.Val337=) c.735T>A (p.Val245=) | |
1 | g.68438305A= | CA1173560874 | RPE65 | c.1010T= (p.Val337=) c.734T= (p.Val245=) | |
1 | g.68438305A>C | CA340744442 | RPE65 | c.1010T>G (p.Val337Gly) c.734T>G (p.Val245Gly) | COSMIC |
1 | g.68438305A>G | CA340744444 | RPE65 | c.1010T>C (p.Val337Ala) c.734T>C (p.Val245Ala) | dbSNP gnomAD v4 |
1 | g.68438305A>T | CA340744446 | RPE65 | c.1010T>A (p.Val337Asp) c.734T>A (p.Val245Asp) | |
1 | g.68438306C>A | CA340744448 | RPE65 | c.1009G>T (p.Val337Phe) c.733G>T (p.Val245Phe) | |
1 | g.68438306C>G | CA340744449 | RPE65 | c.1009G>C (p.Val337Leu) c.733G>C (p.Val245Leu) | |
1 | g.68438306C>T | CA340744452 | RPE65 | c.1009G>A (p.Val337Ile) c.733G>A (p.Val245Ile) |